A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.
Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin.
A bile pigment that is a degradation product of HEME.
Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES.
A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)
A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
Treatment of disease by exposure to light, especially by variously concentrated light rays or specific wavelengths.
Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.
Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria.
Mutant strain of Rattus norvegicus which is used as a disease model of kernicterus.
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
A family of enzymes accepting a wide range of substrates, including phenols, alcohols, amines, and fatty acids. They function as drug-metabolizing enzymes that catalyze the conjugation of UDPglucuronic acid to a variety of endogenous and exogenous compounds. EC 2.4.1.17.
A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract.
An infant during the first month after birth.
CHILDBIRTH at the end of a normal duration of PREGNANCY, between 37 to 40 weeks of gestation or about 280 days from the first day of the mother's last menstrual period.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.
An organic anion transporter found in human liver. It is capable of transporting a variety organic anions and mediates sodium-independent uptake of bile in the liver.
An antigenic mismatch between donor and recipient blood. Antibodies present in the recipient's serum may be directed against antigens in the donor product. Such a mismatch may result in a transfusion reaction in which, for example, donor blood is hemolyzed. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984).
A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN.
Porphyrins which are combined with a metal ion. The metal is bound equally to all four nitrogen atoms of the pyrrole rings. They possess characteristic absorption spectra which can be utilized for identification or quantitative estimation of porphyrins and porphyrin-bound compounds.
Graphical representation of a statistical model containing scales for calculating the prognostic weight of a value for each individual variable. Nomograms are instruments that can be used to predict outcomes using specific clinical parameters. They use ALGORITHMS that incorporate several variables to calculate the predicted probability that a patient will achieve a particular clinical endpoint.
The degree of antigenic similarity between tissues of the mother and those of the FETUS. Maternal-fetal histocompatibility can determine the acceptance and health of the fetus.
A mixed function oxidase enzyme which during hemoglobin catabolism catalyzes the degradation of heme to ferrous iron, carbon monoxide and biliverdin in the presence of molecular oxygen and reduced NADPH. The enzyme is induced by metals, particularly cobalt. EC 1.14.99.3.
Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.
Porphyrins with four methyl, two vinyl, and two propionic acid side chains attached to the pyrrole rings. Protoporphyrin IX occurs in hemoglobin, myoglobin, and most of the cytochromes.
A potent and specific HIV protease inhibitor that appears to have good oral bioavailability.
The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
A human infant born before 37 weeks of GESTATION.
A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component in biologically significant compounds such as hemoglobin and myoglobin.
Compounds with a six membered aromatic ring containing NITROGEN. The saturated version is PIPERIDINES.
A test to detect non-agglutinating ANTIBODIES against ERYTHROCYTES by use of anti-antibodies (the Coombs' reagent.) The direct test is applied to freshly drawn blood to detect antibody bound to circulating red cells. The indirect test is applied to serum to detect the presence of antibodies that can bind to red blood cells.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
The use of ultraviolet electromagnetic radiation in the treatment of disease, usually of the skin. This is the part of the sun's spectrum that causes sunburn and tanning. Ultraviolet A, used in PUVA, is closer to visible light and less damaging than Ultraviolet B, which is ionizing.
Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).
Proteins involved in the transport of organic anions. They play an important role in the elimination of a variety of endogenous substances, xenobiotics and their metabolites from the body.
Imino acids are organic compounds containing a nitrogen atom in their structure, classified as derivatives of amino acids, where the carbon atom adjacent to the carboxyl group is bonded to a nitrogen atom instead of a hydrogen atom, forming a characteristic imino functional group.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
'Infant, Premature, Diseases' refers to health conditions or abnormalities that specifically affect babies born before 37 weeks of gestation, often resulting from their immature organ systems and increased vulnerability due to preterm birth.
Removal of plasma and replacement with various fluids, e.g., fresh frozen plasma, plasma protein fractions (PPF), albumin preparations, dextran solutions, saline. Used in treatment of autoimmune diseases, immune complex diseases, diseases of excess plasma factors, and other conditions.
A radiopharmaceutical used extensively in cholescintigraphy for the evaluation of hepatobiliary diseases. (From Int Jrnl Rad Appl Inst 1992;43(9):1061-4)
A legal requirement that designated types of information acquired by professionals or institutions in the course of their work be reported to appropriate authorities.
Peptides composed of between two and twelve amino acids.
Minute intercellular channels that occur between liver cells and carry bile towards interlobar bile ducts. Also called bile capillaries.
Glucose-6-Phosphate Dehydrogenase (G6PD) is an enzyme that plays a critical role in the pentose phosphate pathway, catalyzing the oxidation of glucose-6-phosphate to 6-phosphoglucono-δ-lactone while reducing nicotinamide adenine dinucleotide phosphate (NADP+) to nicotinamide adenine dinucleotide phosphate hydrogen (NADPH), thereby protecting cells from oxidative damage and maintaining redox balance.
Subsequent admissions of a patient to a hospital or other health care institution for treatment.
The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.
Diversion of blood flow through a circuit located outside the body but continuous with the bodily circulation.

Role of bilirubin overproduction in revealing Gilbert's syndrome: is dyserythropoiesis an important factor? (1/56)

Gilbert's syndrome was diagnosed in 37 patients with unconjugated hyperbilirubinaemia without overt haemolysis or structural liver abnormality, who had a marked reduction in hepatic bilirubin UDP-glucuronosyltransferase activity (B-GTA) (as compared with that of 23 normal subjects). No significant correlation existed in these patients between serum bilirubin level and the values of B-GTA, thus suggesting that factors other than a low B-GTA must influence the degree of hyperbilirubinaemia in Gilbert's syndrome. Studies of 51Cr erythrocyte survival and 59Fe kinetics in 10 unselected patients demonstrated slight haemolysis in eight, whereas mild ineffective erythropoiesis was suggested in all from a low 24-hour incorporation of radioactive iron into circulating red cells. This overproduction of bilirubin resulting from mild haemolysis and perhaps dyserythropoiesis might reflect only an extreme degree of the normal situation. It certainly contributes to the hyperbilirubinaemia of Gilbert's syndrome and may play a major role in the manifestation of this condition.  (+info)

Involvement of an organic anion transporter (canalicular multispecific organic anion transporter/multidrug resistance-associated protein 2) in gastrointestinal secretion of glutathione conjugates in rats. (2/56)

We investigated the role of cMOAT/MRP2 (canalicular multispecific organic anion transporter/multidrug resistance-associated protein 2) in the intestinal secretion of organic anions by comparing the behavior in Sprague-Dawley (SD) rats and Eisai hyperbilirubinemic rat (EHBR) whose cMOAT/MRP2 is hereditarily defective. After i.v. administration of 1-chloro-2,4-dinitrobenzene (30 micromol/kg), the biliary and intestinal excretion of its glutathione conjugate 2, 4-dinitrophenyl-S-glutathione (DNP-SG), a substrate for cMOAT/MRP2, was significantly reduced in EHBR compared with SD rats. This result also was confirmed by Ussing chamber studies; DNP-SG showed 1.5-fold greater serosal-to-mucosal flux compared with the mucosal-to-serosal flux in SD rats, whereas a similar flux was observed in both directions in EHBR. In addition, metabolic inhibitors reduced the preferential serosal-to-mucosal flux of DNP-SG in SD rats. In everted sac studies, intestinal secretion clearance, defined as the efflux rate of DNP-SG into the mucosal side divided by the area under the curve on the serosal side, was significantly lower in the jejunum of EHBR than that in SD rats. Northern blot analyses demonstrated the highest mRNA level of cMOAT/MRP2 in the jejunum, which is in good agreement with the results of the everted sac studies. These results suggest that cMOAT/MRP2 is involved in the secretion of organic anions in the small intestine.  (+info)

Stimulation of defective Gunn-rat liver uridine diphosphate glucuronyltransferase activity in vitro by alkyl ketones. (3/56)

Addition of alkyl ketone (10mM) to Gunn-rat liver homogenates increased UDP-glucuronyltransferase activity towards 2-aminophenol by 10--20 fold, up to enhanced values of enzyme activity observed with similarly treated Wistar-rat liver homogenates. Alkyl ketones also activate the defective enzyme purified from Gunn-rat liver. This genetic deficiency of UDP-glucuronyltransferase activity is no longer apparent when assayed in the presence of alkyl ketones.  (+info)

Liver ultrastructure in Gilbert's syndrome. (4/56)

Electron microscopy of hepatic tissue obtained by percutaneous needle biopsy from nine patients with Gilbert's syndrome has revealed in every case gross hypertrophy of hepatocyte agranular endoplasmic reticulum but no other important abnormality. While this may have relevance to impairment of microsomal enzyme activity controlling bilirubin conjugation within liver cells, the serum bilirubin levels in all nine patients were below that normally associated with demonstrable UDP-glucuronyl transferase deficiency. Gross hypertrophy of agranular endoplasmic reticulum may be, therefore, a constant feature of this form of Gilbert's syndrome and may have some diagnostic value in the investigation of unconjugated hyperbilirubinaemia.  (+info)

The urinary concentrating defect in the Gunn strain of rat. Role of bilirubin. (5/56)

The role of high serum and tissue levels of unconjegated bilirubin in the pathogenesis of the impaired urinary concentrating ability was investigated in homozygous (jj) Gunn rats with the congenital absence of hepatic glucuronyl transferase. Continuous phototherapy with blue fluorescent lights at a wave length of 460 nm or oral cholestyramine feeding or both reduced serum levels of unconjugated hilirubin to levels consistently below 3.0 mg/100 ml for several weeks in both weanling and adult jj Gunn rats. The renal concentrating defect was already present in weanling jj Gunn rats by 21 days of age. In treated weanling jj animals, maximum concentrating ability and the concentration of urea and nonurea solutes in the papilla and medulla, determined after 24 h of fluid deprivation, were normal when compared to unaffected heterozygous (Jj) littermates. Solute-free water reabsorption which is reduced in jaundiced jj Gunn rats was restored to normal in treated weanling jj rats. The tissue concentration of unconjugated bilirubin was reduced throughout the papilla and inner and outer medulla in the treated jj rats in comparison with untreated jj littermates. The defect in urinary concentrating ability was only partially reversible and sometimes irreversible in adult jj rats, probably because of permanent renal parenchymal damage occurring secondary to massive crystalline deposits in the papilla and medulla. It is concluded that unconjugated bilirubin is directly involved in the pathogenesis of the concentrating defect in jaundiced jj Gunn rats.  (+info)

Population studies on Gilbert's syndrome. (6/56)

Total serum bilirubin concentration was measured by an Autoanalyzer technique in 197 normal males and 102 normal females. The mean bilirubin concentration was significantly lower in the females than in the males. Total bilirubin concentration in the males showed a bimodal distribution with an antimode at 24 mumol/1 (1.4 mg/100ml). Individuals with bilirubin concentration above this value had unconjugated hyperbilirubinaemia and probable Gilbert's syndrome. Total bilirubin concentration in the females again showed a bimodal distribution with an antimode at 12 mumol/1 (0.7 mg/100ml). It is conceivable that females with bilirubin levels above this also have Gilbert's syndrome. This suggests that the population incidence of Gilbert's syndrome could be as high as 6% and that the sex incidence is approximately equal.  (+info)

Comparison of treatments for congenital nonobstructive nonhaemolytic hyperbilirubinaemia. (7/56)

A patient with Crigler-Najjar disease has survived with the help of phototherapy to the age of 2 years without neurological damage. Because long periods of phototherapy are a threat to normal development, a search was made for supplementary treatments. Cholestyramine and a high fat diet were effective, and possibly also aspartic acid. Maintenance therapy with cholestyramine allowed the amount of phototherapy given to be reduced.  (+info)

Effect of dietary composition on the unconjugated hyperbilirubinaemia of Gilbert's syndrome. (8/56)

The influence of dietary composition on the unconjugated hyperbilirubinaemia of Gilbert's syndrome was studied in 29 patients. After a period on a normal diet (10 MJ) an intravenous infusion of 40% glucose (8-4 MJ) together with a 1-6 MJ oral diet for two days resulted in an increment in plasma bilirubin concentration of 127 +/- 18% (mean +/- SEM) above the basal level. Both the administration of intravenous Intralipid 20% and the return to a normal diet caused a prompt reversal of this glucose effect. An increment of 135 +/- 10% in plasma bilirubin concentration was obtained when a standard "fasting" diet (1-6 MJ) was given for two days. When the lipid content of this "fasting" diet was increased from 33% to 85%, the rise in plasma bilirubin was only 49 +/- 19%. A 10 MJ oral diet for three days, which contained most of its energy content as carbohydrate and only 0-6% as lipid, produced a 76 +/- 12% increase in plasma bilirubin concentration. When the lipid content of the diet was increased to 9% of the energy intake no significant change from the basal level was observed. These findings support the hypothesis that the hyperbilirubinaemia associated with both carbohydrate feeding and fasting is attributable, at least in part, to lipid withdrawal. Although a restricted dietary intake or the parenteral administration of lipid-free solutions has a marked effect on the hyperbilirubinaemia of patients with Gilbert's syndrome, normal daily variation in dietary composition is unlikely to cause a significant change. The influence of different feeding regimes on neonatal hyperbilirubinaemia requires investigation.  (+info)

Hyperbilirubinemia is a medical condition characterized by an excessively high level of bilirubin in the bloodstream. Bilirubin is a yellowish pigment produced by the liver when it breaks down old red blood cells. Normally, bilirubin is conjugated (made water-soluble) in the liver and then excreted through the bile into the digestive system. However, if there is a problem with the liver's ability to process or excrete bilirubin, it can build up in the blood, leading to hyperbilirubinemia.

Hyperbilirubinemia can be classified as either unconjugated or conjugated, depending on whether the bilirubin is in its direct (conjugated) or indirect (unconjugated) form. Unconjugated hyperbilirubinemia can occur due to increased production of bilirubin (such as in hemolytic anemia), decreased uptake of bilirubin by the liver, or impaired conjugation of bilirubin in the liver. Conjugated hyperbilirubinemia, on the other hand, is usually caused by a problem with the excretion of conjugated bilirubin into the bile, such as in cholestatic liver diseases like hepatitis or cirrhosis.

Symptoms of hyperbilirubinemia can include jaundice (yellowing of the skin and eyes), dark urine, light-colored stools, itching, and fatigue. Treatment depends on the underlying cause of the condition and may involve medications, dietary changes, or surgery.

Neonatal hyperbilirubinemia is a condition characterized by an excessively high level of bilirubin in the blood of newborn infants. Bilirubin is a yellowish pigment produced by the normal breakdown of red blood cells. Normally, bilirubin is processed by the liver and excreted through the bile into the digestive system. However, in neonatal hyperbilirubinemia, the liver may be unable to process bilirubin quickly enough, leading to its accumulation in the bloodstream. This can cause the skin and eyes of the newborn to appear yellow, a condition known as jaundice.

Neonatal hyperbilirubinemia is relatively common and usually resolves on its own within a few days or weeks. However, if bilirubin levels become too high, they can cause brain damage (kernicterus) in severe cases. Treatment may include phototherapy to help break down bilirubin, exchange transfusions, or other interventions to support liver function and reduce bilirubin levels.

Bilirubin is a yellowish pigment that is produced by the liver when it breaks down old red blood cells. It is a normal byproduct of hemoglobin metabolism and is usually conjugated (made water-soluble) in the liver before being excreted through the bile into the digestive system. Elevated levels of bilirubin can cause jaundice, a yellowing of the skin and eyes. Increased bilirubin levels may indicate liver disease or other medical conditions such as gallstones or hemolysis. It is also measured to assess liver function and to help diagnose various liver disorders.

Neonatal jaundice is a medical condition characterized by the yellowing of a newborn baby's skin and eyes due to an excess of bilirubin in the blood. Bilirubin is a yellowish substance produced by the normal breakdown of red blood cells, which are then processed by the liver and excreted through the bile. In neonatal jaundice, the liver is not yet fully developed and cannot process bilirubin quickly enough, leading to its accumulation in the body.

Neonatal jaundice typically appears within the first 2-4 days of life and can range from mild to severe. Mild cases may resolve on their own without treatment, while more severe cases may require medical intervention such as phototherapy or a blood transfusion. Risk factors for neonatal jaundice include prematurity, bruising during birth, blood type incompatibility between mother and baby, and certain genetic disorders.

It is important to monitor newborns closely for signs of jaundice and seek medical attention if concerned, as untreated neonatal jaundice can lead to serious complications such as brain damage or hearing loss.

Kernicterus is a severe form of brain damage caused by high levels of bilirubin, a yellow pigment that forms when red blood cells break down. It's most commonly seen in newborns, particularly those with a condition called ABO or Rh incompatibility, where the baby's blood type is different from the mother's. This can lead to an increased breakdown of the baby's red blood cells and a buildup of bilirubin.

In kernicterus, the bilirubin reaches such high levels that it becomes toxic and can damage the brain, particularly areas like the basal ganglia and brainstem. This can result in symptoms such as severe jaundice (a yellowing of the skin and eyes), lethargy, high-pitched crying, poor feeding, and eventually seizures, hearing loss, and developmental delays.

Kernicterus is preventable with timely treatment, which may include phototherapy (using light to break down bilirubin) or exchange transfusion (replacing the baby's blood with fresh donor blood). If you suspect your newborn has jaundice or if their skin appears yellow, it's important to seek medical attention immediately.

Gilbert's disease, also known as Gilbert's syndrome, is a common and mild condition characterized by **intermittent** elevations in bilirubin levels in the bloodstream without any evidence of liver damage or disease. Bilirubin is a yellowish pigment that forms when hemoglobin breaks down. Normally, it gets processed in the liver and excreted through bile.

In Gilbert's disease, there is an impaired ability to conjugate bilirubin due to a deficiency or dysfunction of the enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1), which is responsible for the glucuronidation process. This results in mild unconjugated hyperbilirubinemia, where bilirubin levels may rise and cause mild jaundice, particularly during times of fasting, illness, stress, or dehydration.

Gilbert's disease is typically an incidental finding, as it usually does not cause any significant symptoms or complications. It is often discovered during routine blood tests when bilirubin levels are found to be slightly elevated. The condition is usually harmless and does not require specific treatment, but avoiding triggers like fasting or dehydration may help minimize the occurrence of jaundice.

Phototherapy is a medical treatment that involves the use of light to manage or improve certain conditions. It can be delivered in various forms, such as natural light exposure or artificial light sources, including lasers, light-emitting diodes (LEDs), or fluorescent lamps. The wavelength and intensity of light are carefully controlled to achieve specific therapeutic effects.

Phototherapy is most commonly used for newborns with jaundice to help break down bilirubin in the skin, reducing its levels in the bloodstream. This type of phototherapy is called bilirubin lights or bili lights.

In dermatology, phototherapy can be applied to treat various skin conditions like psoriasis, eczema, vitiligo, and acne. Narrowband ultraviolet B (UVB) therapy, PUVA (psoralen plus UVA), and blue or red light therapies are some examples of dermatological phototherapies.

Phototherapy can also be used to alleviate symptoms of seasonal affective disorder (SAD) and other mood disorders by exposing patients to bright artificial light, which helps regulate their circadian rhythms and improve their mood. This form of phototherapy is called light therapy or bright light therapy.

It's essential to consult a healthcare professional before starting any phototherapy treatment, as inappropriate use can lead to adverse effects.

Hyperbilirubinemia is a condition characterized by an excess of bilirubin in the blood. Bilirubin is a yellowish substance produced by the liver when it breaks down old red blood cells. Normally, bilirubin is processed by the liver and excreted through the bile ducts and into the digestive system. However, if there is a problem with the liver or the bile ducts, bilirubin can build up in the blood, causing hyperbilirubinemia.

Hereditary hyperbilirubinemia refers to forms of the condition that are caused by genetic mutations. There are several types of hereditary hyperbilirubinemia, including:

1. Dubin-Johnson syndrome: This is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and a dark brownish-black pigmentation of the liver. It is caused by mutations in the MRP2 gene, which provides instructions for making a protein that helps to remove bilirubin from the liver cells into the bile ducts.

2. Rotor syndrome: This is another rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia. It is caused by mutations in the SLCO1B1 and SLCO1B3 genes, which provide instructions for making proteins that help to transport bilirubin into the liver cells.

3. Crigler-Najjar syndrome: This is a rare autosomal recessive disorder characterized by severe unconjugated hyperbilirubinemia. It is caused by mutations in the UGT1A1 gene, which provides instructions for making an enzyme that helps to conjugate bilirubin in the liver.

4. Gilbert syndrome: This is a common autosomal recessive disorder characterized by mild unconjugated hyperbilirubinemia. It is caused by mutations in the UGT1A1 gene, but to a lesser degree than Crigler-Najjar syndrome.

In general, hereditary hyperbilirubinemias are managed with close monitoring of bilirubin levels and may require treatment with phototherapy or exchange transfusion in severe cases. In some cases, liver transplantation may be necessary.

An exchange transfusion of whole blood is a medical procedure in which a patient's blood is gradually replaced with donor whole blood. This procedure is typically performed in newborns or infants who have severe jaundice caused by excessive levels of bilirubin, a yellowish pigment that forms when hemoglobin from red blood cells breaks down.

During an exchange transfusion, the baby's blood is removed through a vein or artery and replaced with donor whole blood through another vein or artery. The process is repeated several times until a significant portion of the baby's blood has been exchanged with donor blood. This helps to reduce the levels of bilirubin in the baby's blood, which can help prevent or treat brain damage caused by excessive bilirubin.

Exchange transfusions are typically performed in a neonatal intensive care unit (NICU) and require close monitoring by a team of healthcare professionals. The procedure carries some risks, including infection, bleeding, and changes in blood pressure or heart rate. However, it can be a lifesaving treatment for newborns with severe jaundice who are at risk of developing serious complications.

I'm sorry for any confusion, but "Rats, Gunn" is not a recognized medical term or phrase. It appears to be a nonsensical expression without specific meaning in the context of medicine or healthcare. If you have any questions about medical terminology or concepts, I would be happy to try and help answer those for you!

Jaundice is a medical condition characterized by the yellowing of the skin, sclera (whites of the eyes), and mucous membranes due to an excess of bilirubin in the bloodstream. Bilirubin is a yellow-orange pigment produced when hemoglobin from red blood cells is broken down. Normally, bilirubin is processed by the liver and excreted through bile into the digestive system. However, if there's an issue with bilirubin metabolism or elimination, it can accumulate in the body, leading to jaundice.

Jaundice can be a symptom of various underlying conditions, such as liver diseases (hepatitis, cirrhosis), gallbladder issues (gallstones, tumors), or blood disorders (hemolysis). It is essential to consult a healthcare professional if jaundice is observed, as it may indicate a severe health problem requiring prompt medical attention.

Glucuronosyltransferase (UDP-glucuronosyltransferase) is an enzyme belonging to the family of glycosyltransferases. It plays a crucial role in the process of biotransformation and detoxification of various endogenous and exogenous substances, including drugs, hormones, and environmental toxins, in the liver and other organs.

The enzyme functions by transferring a glucuronic acid moiety from a donor molecule, uridine diphosphate glucuronic acid (UDP-GlcUA), to an acceptor molecule, which can be a variety of hydrophobic compounds. This reaction results in the formation of a more water-soluble glucuronide conjugate, facilitating the excretion of the substrate through urine or bile.

There are multiple isoforms of glucuronosyltransferase, classified into two main families: UGT1 and UGT2. These isoforms exhibit different substrate specificities and tissue distributions, allowing for a wide range of compounds to be metabolized through the glucuronidation pathway.

In summary, Glucuronosyltransferase is an essential enzyme in the detoxification process, facilitating the elimination of various substances from the body by conjugating them with a glucuronic acid moiety.

Crigler-Najjar Syndrome is a rare inherited genetic disorder that affects the metabolism of bilirubin, a yellow pigment produced when hemoglobin breaks down. This condition is characterized by high levels of unconjugated bilirubin in the blood, which can lead to jaundice, kernicterus, and neurological damage if left untreated.

There are two types of Crigler-Najjar Syndrome: Type I and Type II.

Type I is the more severe form, and it is caused by a mutation in the UGT1A1 gene, which encodes for an enzyme responsible for conjugating bilirubin. People with this type of Crigler-Najjar Syndrome have little to no functional enzyme activity, leading to very high levels of unconjugated bilirubin in the blood. This form is usually diagnosed in infancy and requires regular phototherapy or a liver transplant to prevent neurological damage.

Type II is a milder form of the disorder, caused by a mutation that results in reduced enzyme activity but not complete loss of function. People with this type of Crigler-Najjar Syndrome usually have milder symptoms and may not require regular phototherapy or a liver transplant, although they may still be at risk for neurological damage if their bilirubin levels become too high.

Both types of Crigler-Najjar Syndrome are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Chronic Idiopathic Jaundice is not a widely accepted medical diagnosis and the term "idiopathic" is used to denote that the cause of the jaundice is unknown. However, it is generally used to describe a condition where a person has persistent jaundice without any identifiable underlying cause.

Jaundice itself refers to the yellowing of the skin, sclera (whites of the eyes), and mucous membranes due to an accumulation of bilirubin in the body. Bilirubin is a yellowish substance that is produced when hemoglobin, the protein in red blood cells that carries oxygen, breaks down. Normally, bilirubin is processed by the liver and excreted through the bile ducts into the digestive system.

In Chronic Idiopathic Jaundice, the bilirubin level remains elevated over an extended period of time without any apparent explanation. The condition may be asymptomatic or associated with symptoms such as fatigue, itching, and abdominal discomfort. It is important to note that while "idiopathic" implies an unknown cause, further investigation and monitoring are often necessary to rule out any underlying liver disease or other conditions that may contribute to the jaundice.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

A "term birth" is a medical term that refers to a delivery or pregnancy that has reached 37 weeks or more. It is the normal length of a full-term pregnancy and is considered a healthy and low-risk period for childbirth. Babies born at term have the best chance of being healthy and not experiencing any significant medical issues, compared to those born preterm (before 37 weeks) or postterm (after 42 weeks). The different types of term births are:

* Early Term: Between 37 weeks and 38 weeks, 6 days.
* Full Term: Between 39 weeks and 40 weeks, 6 days.
* Late Term: Between 41 weeks and 41 weeks, 6 days.
* Postterm: 42 weeks or later.

It is important to note that while a term birth is generally considered low-risk, there can still be variations in the health of babies born at different points within this range. For example, research has shown that babies born at 39 weeks have better outcomes than those born at 37 or 38 weeks. Therefore, it is always best to consult with a healthcare provider for individualized guidance and recommendations regarding pregnancy and childbirth.

Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.

The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.

Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.

It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that affects the normal functioning of an enzyme called G6PD. This enzyme is found in red blood cells and plays a crucial role in protecting them from damage.

In people with G6PD deficiency, the enzyme's activity is reduced or absent, making their red blood cells more susceptible to damage and destruction, particularly when they are exposed to certain triggers such as certain medications, infections, or foods. This can lead to a condition called hemolysis, where the red blood cells break down prematurely, leading to anemia, jaundice, and in severe cases, kidney failure.

G6PD deficiency is typically inherited from one's parents in an X-linked recessive pattern, meaning that males are more likely to be affected than females. While there is no cure for G6PD deficiency, avoiding triggers and managing symptoms can help prevent complications.

Organic anion transport polypeptide C (OATPc or OATPC) is not a widely recognized or established term in the medical field. It seems that this terminology might be referring to one or more members of the organic anion transporting polypeptides (OATPs) family, specifically those localized to the canalicular membrane of hepatocytes.

OATPs are a group of membrane transporters primarily responsible for the uptake of various amphipathic organic molecules, including bile salts, steroid conjugates, thyroid hormones, and various drugs. They play a crucial role in the hepatic clearance and disposition of many endogenous and exogenous substances.

The term "OATPc" might be referring to OATP1B1 (SLCO1B1) and/or OATP1B3 (SLCO1B3), which are the two major isoforms found in the human liver's canalicular membrane. However, it is essential to note that there isn't a universally accepted or standardized definition for "OATPc."

To obtain accurate and reliable information, consult scientific literature, textbooks, or databases specializing in medical definitions and terminology.

Blood group incompatibility refers to a situation where the blood type of a donor and a recipient are not compatible, leading to an immune response and destruction of the donated red blood cells. This is because the recipient's immune system recognizes the donor's red blood cells as foreign due to the presence of incompatible antigens on their surface.

The most common type of blood group incompatibility occurs between individuals with different ABO blood types, such as when a person with type O blood receives type A, B, or AB blood. This can lead to agglutination and hemolysis of the donated red blood cells, causing potentially life-threatening complications such as hemolytic transfusion reaction.

Another type of blood group incompatibility occurs between Rh-negative mothers and their Rh-positive fetuses. If a mother's immune system is exposed to her fetus's Rh-positive red blood cells during pregnancy or childbirth, she may develop antibodies against them. This can lead to hemolytic disease of the newborn if the mother becomes pregnant with another Rh-positive fetus in the future.

To prevent these complications, it is essential to ensure that donated blood is compatible with the recipient's blood type before transfusion and that appropriate measures are taken during pregnancy and childbirth to prevent sensitization of Rh-negative mothers to Rh-positive red blood cells.

Erythroblastosis, fetal is a medical condition that occurs in the fetus or newborn when there is an incompatibility between the fetal and maternal blood types, specifically related to the Rh factor or ABO blood group system. This incompatibility leads to the destruction of the fetal red blood cells by the mother's immune system, resulting in the release of bilirubin, which can cause jaundice, anemia, and other complications.

In cases where the mother is Rh negative and the fetus is Rh positive, the mother may develop antibodies against the Rh factor during pregnancy or after delivery, leading to hemolysis (breakdown) of the fetal red blood cells in subsequent pregnancies if preventive measures are not taken. This is known as hemolytic disease of the newborn (HDN).

Similarly, incompatibility between the ABO blood groups can also lead to HDN, although it is generally less severe than Rh incompatibility. In this case, the mother's immune system produces antibodies against the fetal red blood cells, leading to their destruction and subsequent complications.

Fetal erythroblastosis is a serious condition that can lead to significant morbidity and mortality if left untreated. Treatment options include intrauterine transfusions, phototherapy, and exchange transfusions in severe cases. Preventive measures such as Rh immune globulin (RhIG) injections can help prevent the development of antibodies in Rh-negative mothers, reducing the risk of HDN in subsequent pregnancies.

Metalloporphyrins are a type of porphyrin molecule that contain a metal ion at their center. Porphyrins are complex organic compounds containing four modified pyrrole rings connected to form a planar, aromatic ring known as a porphine. When a metal ion is incorporated into the center of the porphyrin ring, it forms a metalloporphyrin.

These molecules have great biological significance, as they are involved in various essential processes within living organisms. For instance, heme, a type of iron-containing porphyrin, plays a crucial role in oxygen transport and storage in the body by forming part of hemoglobin and myoglobin molecules. Chlorophyll, another metalloporphyrin with magnesium at its center, is essential for photosynthesis in plants, algae, and some bacteria.

Metalloporphyrins have also found applications in several industrial and medical fields, including catalysis, sensors, and pharmaceuticals. Their unique structure and properties make them valuable tools for researchers and scientists to study and utilize in various ways.

A nomogram is a graphical representation of a mathematical formula or equation that allows the user to quickly solve a problem by simply drawing a line between different values on the chart. In the field of medicine, nomograms are often used as a tool for predicting patient outcomes, assessing risk, or making diagnostic decisions based on specific clinical data.

For example, a nomogram may be used to estimate the probability of survival in patients with a particular type of cancer, based on factors such as age, tumor size, and stage of disease. The user would locate the appropriate values for each factor on the nomogram, draw a line connecting them, and read off the estimated probability at the intersection point.

Nomograms can be a useful and intuitive way to communicate complex medical information and help clinicians make informed decisions in a timely manner. However, it is important to note that nomograms are only as accurate as the data they are based on, and should always be used in conjunction with clinical judgment and other relevant factors.

Histocompatibility, maternal-fetal, refers to the compatibility between the human leukocyte antigens (HLAs) and other antigenic proteins expressed on the fetal tissues and those present in the mother's immune system. The HLAs are a group of proteins encoded by the major histocompatibility complex (MHC) and play a crucial role in the recognition and presentation of foreign peptides to the immune cells.

During pregnancy, the fetal tissues express paternal HLA antigens that can be recognized as non-self by the mother's immune system. However, the maternal-fetal interface, which includes the placenta and decidua, has several mechanisms to prevent the activation of the maternal immune response against the fetus. These mechanisms include the expression of unique HLA molecules (HLA-G, -C, and -E) by the trophoblast cells, which have immunomodulatory functions, as well as the production of anti-inflammatory cytokines and the suppression of pro-inflammatory responses.

Despite these immune tolerance mechanisms, in some cases, the maternal immune system may still recognize the fetal tissues as foreign and mount an immune response, leading to pregnancy complications such as preeclampsia, recurrent miscarriage, or intrauterine growth restriction. The degree of histocompatibility between the mother and fetus can influence the risk of these complications, with a higher degree of mismatch increasing the risk.

In transplantation medicine, the concept of histocompatibility is critical in matching donors and recipients to minimize the risk of rejection. However, in pregnancy, the unique immune environment at the maternal-fetal interface allows for the coexistence of two genetically distinct individuals without the need for full histocompatibility.

Central hearing loss is a type of hearing disorder that occurs due to damage or dysfunction in the central auditory pathways of the brain, rather than in the ear itself. This condition can result from various causes, such as stroke, tumors, trauma, infection, or degenerative diseases affecting the brain.

In central hearing loss, the person may have difficulty understanding and processing speech, even when they can hear sounds at normal levels. They might experience problems with sound localization, discriminating between similar sounds, and comprehending complex auditory signals. This type of hearing loss is different from sensorineural or conductive hearing loss, which are related to issues in the outer, middle, or inner ear.

Protoporphyrins are organic compounds that are the immediate precursors to heme in the porphyrin synthesis pathway. They are composed of a porphyrin ring, which is a large, complex ring made up of four pyrrole rings joined together, with an acetate and a propionate side chain at each pyrrole. Protoporphyrins are commonly found in nature and are important components of many biological systems, including hemoglobin, the protein in red blood cells that carries oxygen throughout the body.

There are several different types of protoporphyrins, including protoporphyrin IX, which is the most common form found in humans and other animals. Protoporphyrins can be measured in the blood or other tissues as a way to diagnose or monitor certain medical conditions, such as lead poisoning or porphyrias, which are rare genetic disorders that affect the production of heme. Elevated levels of protoporphyrins in the blood or tissues can indicate the presence of these conditions and may require further evaluation and treatment.

Indinavir is an antiretroviral medication used in the treatment and management of HIV (Human Immunodeficiency Virus) infection. It belongs to a class of drugs known as protease inhibitors, which work by blocking the action of protease enzymes that are necessary for the HIV virus to replicate. By inhibiting this process, indinavir helps prevent the spread of HIV in the body and reduces the risk of developing AIDS (Acquired Immunodeficiency Syndrome).

Indinavir is often prescribed as part of a combination therapy regimen with other antiretroviral drugs. It is available in capsule form and is typically taken several times a day, usually on an empty stomach. As with all medications, indinavir can have side effects, which may include nausea, diarrhea, headache, and changes in liver function. Regular monitoring of blood tests is necessary to ensure that the drug is working effectively and not causing any harmful side effects.

It's important to note that while antiretroviral therapy can help manage HIV infection and improve quality of life, it does not cure the disease. Therefore, it is essential for individuals with HIV to continue taking their medications as prescribed and to follow up regularly with their healthcare provider.

The ABO blood-group system is a classification system used in blood transfusion medicine to determine the compatibility of donated blood with a recipient's blood. It is based on the presence or absence of two antigens, A and B, on the surface of red blood cells (RBCs), as well as the corresponding antibodies present in the plasma.

There are four main blood types in the ABO system:

1. Type A: These individuals have A antigens on their RBCs and anti-B antibodies in their plasma.
2. Type B: They have B antigens on their RBCs and anti-A antibodies in their plasma.
3. Type AB: They have both A and B antigens on their RBCs but no natural antibodies against either A or B antigens.
4. Type O: They do not have any A or B antigens on their RBCs, but they have both anti-A and anti-B antibodies in their plasma.

Transfusing blood from a donor with incompatible ABO antigens can lead to an immune response, causing the destruction of donated RBCs and potentially life-threatening complications such as acute hemolytic transfusion reaction. Therefore, it is crucial to match the ABO blood type between donors and recipients before performing a blood transfusion.

Hemolysis is the destruction or breakdown of red blood cells, resulting in the release of hemoglobin into the surrounding fluid (plasma). This process can occur due to various reasons such as chemical agents, infections, autoimmune disorders, mechanical trauma, or genetic abnormalities. Hemolysis may lead to anemia and jaundice, among other complications. It is essential to monitor hemolysis levels in patients undergoing medical treatments that might cause this condition.

A premature infant is a baby born before 37 weeks of gestation. They may face various health challenges because their organs are not fully developed. The earlier a baby is born, the higher the risk of complications. Prematurity can lead to short-term and long-term health issues, such as respiratory distress syndrome, jaundice, anemia, infections, hearing problems, vision problems, developmental delays, and cerebral palsy. Intensive medical care and support are often necessary for premature infants to ensure their survival and optimal growth and development.

Porphyrins are complex organic compounds that contain four pyrrole rings joined together by methine bridges (=CH-). They play a crucial role in the biochemistry of many organisms, as they form the core structure of various heme proteins and other metalloproteins. Some examples of these proteins include hemoglobin, myoglobin, cytochromes, and catalases, which are involved in essential processes such as oxygen transport, electron transfer, and oxidative metabolism.

In the human body, porphyrins are synthesized through a series of enzymatic reactions known as the heme biosynthesis pathway. Disruptions in this pathway can lead to an accumulation of porphyrins or their precursors, resulting in various medical conditions called porphyrias. These disorders can manifest as neurological symptoms, skin lesions, and gastrointestinal issues, depending on the specific type of porphyria and the site of enzyme deficiency.

It is important to note that while porphyrins are essential for life, their accumulation in excessive amounts or at inappropriate locations can result in pathological conditions. Therefore, understanding the regulation and function of porphyrin metabolism is crucial for diagnosing and managing porphyrias and other related disorders.

I'm sorry for any confusion, but "Pyridines" is not a medical term. It is a chemical term that refers to a class of organic compounds with the chemical structure of a six-membered ring containing one nitrogen atom and five carbon atoms (heterocyclic aromatic compound).

In a biological or medical context, pyridine derivatives can be found in various natural and synthetic substances. For example, some medications contain pyridine rings as part of their chemical structure. However, "Pyridines" itself is not a medical term or condition.

The Coombs test is a laboratory procedure used to detect the presence of antibodies on the surface of red blood cells (RBCs). It is named after the scientist, Robin Coombs, who developed the test. There are two types of Coombs tests: direct and indirect.

1. Direct Coombs Test (DCT): This test is used to detect the presence of antibodies directly attached to the surface of RBCs. It is often used to diagnose hemolytic anemia, a condition in which RBCs are destroyed prematurely, leading to anemia. A positive DCT indicates that the patient's RBCs have been coated with antibodies, which can occur due to various reasons such as autoimmune disorders, blood transfusion reactions, or drug-induced immune hemolysis.
2. Indirect Coombs Test (ICT): This test is used to detect the presence of antibodies in the patient's serum that can agglutinate (clump) foreign RBCs. It is commonly used before blood transfusions or during pregnancy to determine if the patient has antibodies against the RBCs of a potential donor or fetus, respectively. A positive ICT indicates that the patient's serum contains antibodies capable of binding to and agglutinating foreign RBCs.

In summary, the Coombs test is a crucial diagnostic tool in identifying various hemolytic disorders and ensuring safe blood transfusions by detecting the presence of harmful antibodies against RBCs.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Ultraviolet (UV) therapy, also known as phototherapy, is a medical treatment that uses ultraviolet light to treat various skin conditions. The UV light can be delivered through natural sunlight or artificial sources, such as specialized lamps or lasers.

In medical settings, controlled doses of UV light are used to target specific areas of the skin. The most common type of UV therapy is narrowband UVB (NB-UVB) phototherapy, which uses a specific wavelength of UVB light to treat conditions such as psoriasis, eczema, vitiligo, and dermatitis.

The goal of UV therapy is to reduce inflammation, slow skin cell growth, and improve the overall appearance of the skin. It is important to note that while UV therapy can be effective in treating certain skin conditions, it also carries risks such as skin aging and an increased risk of skin cancer. Therefore, it should only be administered under the supervision of a qualified healthcare professional.

Cholestasis is a medical condition characterized by the interruption or reduction of bile flow from the liver to the small intestine. Bile is a digestive fluid produced by the liver that helps in the breakdown and absorption of fats. When the flow of bile is blocked or reduced, it can lead to an accumulation of bile components, such as bilirubin, in the blood, which can cause jaundice, itching, and other symptoms.

Cholestasis can be caused by various factors, including liver diseases (such as hepatitis, cirrhosis, or cancer), gallstones, alcohol abuse, certain medications, pregnancy, and genetic disorders. Depending on the underlying cause, cholestasis may be acute or chronic, and it can range from mild to severe in its symptoms and consequences. Treatment for cholestasis typically involves addressing the underlying cause and managing the symptoms with supportive care.

Organic anion transporters (OATs) are membrane transport proteins that are responsible for the cellular uptake and excretion of various organic anions, such as drugs, toxins, and endogenous metabolites. They are found in various tissues, including the kidney, liver, and brain, where they play important roles in the elimination and detoxification of xenobiotics and endogenous compounds.

In the kidney, OATs are located in the basolateral membrane of renal tubular epithelial cells and mediate the uptake of organic anions from the blood into the cells. From there, the anions can be further transported into the urine by other transporters located in the apical membrane. In the liver, OATs are expressed in the sinusoidal membrane of hepatocytes and facilitate the uptake of organic anions from the blood into the liver cells for metabolism and excretion.

There are several isoforms of OATs that have been identified, each with distinct substrate specificities and tissue distributions. Mutations in OAT genes can lead to various diseases, including renal tubular acidosis, hypercalciuria, and drug toxicity. Therefore, understanding the function and regulation of OATs is important for developing strategies to improve drug delivery and reduce adverse drug reactions.

Imino acids are organic compounds that contain a nitrogen atom as part of an amide-like structure. They are structurally similar to amino acids, which contain a carboxyl group and an amino group, but instead of the amino group, imino acids have a structural unit known as an imine or Schiff base, which is a carbon-nitrogen double bond with a hydrogen atom attached to the nitrogen atom.

One example of an imino acid is proline, which is a cyclic imino acid that plays important roles in protein structure and function. Proline is unique among the 20 standard amino acids because its side chain is linked to the nitrogen atom of the backbone, forming a ring-like structure. This structural feature gives proline unique properties, such as restricted rotation around the bond between the nitrogen and alpha carbon atoms, which can affect protein folding and stability.

Other imino acids may be formed through chemical reactions or enzymatic processes, and they can play important roles in various biological pathways, including the biosynthesis of amino acids, nucleotides, and other biomolecules. However, imino acids are not typically considered to be part of the standard set of 20 amino acids that make up proteins.

Hemolytic anemia is a type of anemia that occurs when red blood cells are destroyed (hemolysis) faster than they can be produced. Red blood cells are essential for carrying oxygen throughout the body. When they are destroyed, hemoglobin and other cellular components are released into the bloodstream, which can lead to complications such as kidney damage and gallstones.

Hemolytic anemia can be inherited or acquired. Inherited forms of the condition may result from genetic defects that affect the structure or function of red blood cells. Acquired forms of hemolytic anemia can be caused by various factors, including infections, medications, autoimmune disorders, and certain medical conditions such as cancer or blood disorders.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, pale skin, jaundice (yellowing of the skin and eyes), dark urine, and a rapid heartbeat. Treatment for hemolytic anemia depends on the underlying cause and may include medications, blood transfusions, or surgery.

A "premature infant" is a newborn delivered before 37 weeks of gestation. They are at greater risk for various health complications and medical conditions compared to full-term infants, due to their immature organ systems and lower birth weight. Some common diseases and health issues that premature infants may face include:

1. Respiratory Distress Syndrome (RDS): A lung disorder caused by the lack of surfactant, a substance that helps keep the lungs inflated. Premature infants, especially those born before 34 weeks, are at higher risk for RDS.
2. Intraventricular Hemorrhage (IVH): Bleeding in the brain's ventricles, which can lead to developmental delays or neurological issues. The risk of IVH is inversely proportional to gestational age, meaning that the earlier the infant is born, the higher the risk.
3. Necrotizing Enterocolitis (NEC): A gastrointestinal disease where the intestinal tissue becomes inflamed and can die. Premature infants are at greater risk for NEC due to their immature digestive systems.
4. Jaundice: A yellowing of the skin and eyes caused by an accumulation of bilirubin, a waste product from broken-down red blood cells. Premature infants may have higher rates of jaundice due to their liver's immaturity.
5. Infections: Premature infants are more susceptible to infections because of their underdeveloped immune systems. Common sources of infection include the mother's genital tract, bloodstream, or hospital environment.
6. Anemia: A condition characterized by a low red blood cell count or insufficient hemoglobin. Premature infants may develop anemia due to frequent blood sampling, rapid growth, or inadequate erythropoietin production.
7. Retinopathy of Prematurity (ROP): An eye disorder affecting premature infants, where abnormal blood vessel growth occurs in the retina. Severe ROP can lead to vision loss or blindness if not treated promptly.
8. Developmental Delays: Premature infants are at risk for developmental delays due to their immature nervous systems and environmental factors such as sensory deprivation or separation from parents.
9. Patent Ductus Arteriosus (PDA): A congenital heart defect where the ductus arteriosus, a blood vessel that connects two major arteries in the fetal heart, fails to close after birth. Premature infants are at higher risk for PDA due to their immature cardiovascular systems.
10. Hypothermia: Premature infants have difficulty maintaining body temperature and are at risk for hypothermia, which can lead to increased metabolic demands, poor feeding, and infection.

Plasma exchange, also known as plasmapheresis, is a medical procedure where the liquid portion of the blood (plasma) is separated from the blood cells. The plasma, which may contain harmful substances such as antibodies, clotting factors, or toxins, is then removed and replaced with fresh plasma or a plasma substitute. This process helps to remove the harmful substances from the blood and allows the body to replenish its own plasma with normal components. Plasma exchange is used in the treatment of various medical conditions including autoimmune diseases, poisonings, and certain types of kidney diseases.

Technetium Tc 99m Disofenin is not a medical condition, but rather a radiopharmaceutical used in diagnostic imaging. It is a radioactive tracer used in nuclear medicine scans, specifically for liver and biliary system imaging. The compound consists of the radioisotope Technetium-99m (Tc-99m) bonded to the pharmaceutical Disofenin.

The Tc-99m is a gamma emitter with a half-life of 6 hours, making it ideal for diagnostic imaging. When administered to the patient, the compound is taken up by the liver and excreted into the bile ducts and gallbladder, allowing medical professionals to visualize these structures using a gamma camera. This can help detect various conditions such as tumors, gallstones, or obstructions in the biliary system.

It's important to note that Technetium Tc 99m Disofenin is used diagnostically and not for therapeutic purposes. The radiation exposure from this compound is generally low and considered safe for diagnostic use. However, as with any medical procedure involving radiation, the benefits and risks should be carefully weighed and discussed with a healthcare professional.

Mandatory reporting is a legal requirement that healthcare professionals, as well as other designated individuals or organizations, must report suspected or confirmed cases of abuse, neglect, or exploitation of vulnerable populations to the appropriate authorities. These vulnerable populations often include children, elderly persons, and individuals with disabilities. The purpose of mandatory reporting is to ensure the protection and safety of these at-risk individuals and to facilitate interventions that can address and prevent further harm.

Healthcare professionals who are mandated reporters typically include doctors, nurses, mental health professionals, social workers, and teachers, among others. Mandatory reporting requirements vary by jurisdiction but generally involve immediate notification upon suspicion or knowledge of maltreatment. Failing to report as required can result in legal consequences for the mandated reporter, including potential penalties such as fines, license suspension, or even criminal charges.

The specifics of mandatory reporting laws and regulations differ between countries, states, and provinces; therefore, it is essential for healthcare professionals to be familiar with the requirements applicable to their particular practice settings.

Oligopeptides are defined in medicine and biochemistry as short chains of amino acids, typically containing fewer than 20 amino acid residues. These small peptides are important components in various biological processes, such as serving as signaling molecules, enzyme inhibitors, or structural elements in some proteins. They can be found naturally in foods and may also be synthesized for use in medical research and therapeutic applications.

Bile canaliculi are the smallest bile-transporting structures in the liver. They are formed by the close apposition of hepatocyte (liver cell) plasma membranes, and they are responsible for the majority of bile production. The bile canaliculi merge to form bile ductules, which then merge to form larger bile ducts that transport bile to the gallbladder and small intestine. Bile is a fluid that contains water, electrolytes, bile salts, cholesterol, phospholipids, and bilirubin, which are produced by the liver and play important roles in digestion and elimination of waste products.

Glyceraldehyde-3-phosphate dehydrogenase (GAPDH), also known as Glucosephosphate Dehydrogenase, is an enzyme that plays a crucial role in cellular metabolism, particularly in the glycolytic pathway. It catalyzes the conversion of glyceraldehyde 3-phosphate (G3P) to 1,3-bisphosphoglycerate (1,3-BPG), while also converting nicotinamide adenine dinucleotide (NAD+) to its reduced form NADH. This reaction is essential for the production of energy in the form of adenosine triphosphate (ATP) during cellular respiration. GAPDH has been widely used as a housekeeping gene in molecular biology research due to its consistent expression across various tissues and cells, although recent studies have shown that its expression can vary under certain conditions.

Patient readmission refers to the event when a patient who was previously discharged from a hospital or healthcare facility returns for further treatment, often within a specified period. It is measured as a percentage of patients who are readmitted within a certain time frame, such as 30, 60, or 90 days after discharge. Readmissions may be planned or unplanned and can occur due to various reasons, including complications from the initial illness or treatment, inadequate post-discharge follow-up care, or the patient's inability to manage their health conditions effectively at home. High readmission rates are often considered an indicator of the quality of care provided during the initial hospitalization and may also signify potential issues with care coordination and transitions between healthcare settings.

Gestational age is the length of time that has passed since the first day of the last menstrual period (LMP) in pregnant women. It is the standard unit used to estimate the age of a pregnancy and is typically expressed in weeks. This measure is used because the exact date of conception is often not known, but the start of the last menstrual period is usually easier to recall.

It's important to note that since ovulation typically occurs around two weeks after the start of the LMP, gestational age is approximately two weeks longer than fetal age, which is the actual time elapsed since conception. Medical professionals use both gestational and fetal age to track the development and growth of the fetus during pregnancy.

Extracorporeal circulation (ECC) is a term used in medicine to describe the process of temporarily taking over the functions of the heart and lungs by using a machine. This allows the surgeon to perform certain types of surgery, such as open-heart surgery, on a still and bloodless operating field.

During ECC, the patient's blood is circulated outside the body through a pump and oxygenator. The pump helps to maintain blood flow and pressure, while the oxygenator adds oxygen to the blood and removes carbon dioxide. This allows the surgeon to stop the heart and arrest its motion, making it easier to perform delicate procedures on the heart and surrounding structures.

Extracorporeal circulation is a complex and high-risk procedure that requires careful monitoring and management by a team of healthcare professionals. It carries risks such as bleeding, infection, and injury to blood vessels or organs. However, when performed correctly, it can be a life-saving measure for patients undergoing certain types of surgery.

... refers to the condition where levels of bilirubin are elevated, for reasons that can be ... "Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia". J. Clin. Invest. ... Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ...
"Hereditary Contribution to Neonatal Hyperbilirubinemia". Fetal and Neonatal Physiology. Elsevier: 933-942.e3. doi:10.1016/b978- ... Hyperbilirubinemia, more precisely hyperbilirubinemia due to the unconjugated fraction, may cause bilirubin to accumulate in ... While this may occur in children with hyperbilirubinemia, tooth discoloration due to hyperbilirubinemia is not observed in ... In developing children, hyperbilirubinemia may cause a yellow or green discoloration of teeth due to bilirubin deposition ...
Gilbert Syndrome, a hereditary disease affecting 5% of the US population, leads to stress-induced mild hyperbilirubinemia. The ... inducing acute hyperbilirubinemia. Another risk factor for hyperbilirubinemia is pregnancy. Gallstones are more common in ... Hyperbilirubinemia itself is often benign. Only in extreme cases does kernicterus, a type of brain injury, occur. Therapy for ... Acute hyperbilirubinemia is found in >70% of hepatitis E patients but chronic infection is scarce. The transmission routes of ...
Under homozygous condition, it is also linked with jaundice (conjugated hyperbilirubinemia), and mild anemia. Hemoglobin O- ... hereditary erythroblastic multinuclearity). But heterozygous condition is clinically harmless. Dror, Sayar (2013). "Clinical ... "Homozygous haemoglobin O disease and conjugated hyperbilirubinaemia in a Sudanese family". BMJ. 304 (6818): 26-27. doi:10.1136/ ...
If the cause is due to hemolytic disease of the newborn or hereditary spherocytosis, the neonate will have a positive Coomb's ... test and unconjugated hyperbilirubinemia. Malignancies such as neuroblastoma and acute myeloid leukemia are all rare but ... Non-infectious causes include haemolytic disease of the newborn, hereditary spherocytosis, twin-to-twin transfusion syndrome ... Blood disorders, such as hereditary spherocytosis and hemolytic disease of the newborn, that increase extramedullary ...
... cancer syndrome Hereditary hyperbilirubinemia Hereditary leiomyomatosis and renal cell cancer syndrome Hereditary neuralgic ... amyotrophy Hereditary nonpolyposis colorectal cancer Hermansky-Pudlak syndrome Hero syndrome Heyde's syndrome High-rise ... Hemoglobin Lepore syndrome Hemolytic-uremic syndrome Hennekam syndrome Hepatopulmonary syndrome Hepatorenal syndrome Hereditary ...
... hyperbilirubinemia, hereditary MeSH C18.452.648.437.281 - Crigler-Najjar syndrome MeSH C18.452.648.437.528 - gilbert disease ... hereditary nonpolyposis MeSH C18.452.284.280 - fanconi anemia MeSH C18.452.284.520 - Li-Fraumeni syndrome MeSH C18.452.284.600 ... hereditary MeSH C18.452.648.735.150 - porphyria, acute intermittent MeSH C18.452.648.735.250 - porphyria cutanea tarda MeSH ... hereditary, leber MeSH C18.452.660.520 - Leigh disease MeSH C18.452.660.560 - mitochondrial myopathies MeSH C18.452.660.560.620 ...
... hyperbilirubinemia, hereditary MeSH C16.320.565.437.281 - Crigler-Najjar syndrome MeSH C16.320.565.437.528 - Gilbert disease ... hereditary MeSH C16.320.290.564.400 - optic atrophy, hereditary, leber MeSH C16.320.290.564.500 - optic atrophy, autosomal ... hereditary central nervous system demyelinating diseases MeSH C16.320.400.400 - hereditary motor and sensory neuropathies MeSH ... hereditary MeSH C16.320.400.630.400 - optic atrophy, hereditary, leber MeSH C16.320.400.630.500 - optic atrophy, autosomal ...
The term "non-hereditary spherocytosis" is occasionally used, albeit rarely. Lists of causes: Warm autoimmune hemolytic anemia ... acute symptoms of anemia and hyperbilirubinemia indicate treatment with blood transfusions or exchanges and chronic symptoms of ... In the case of hereditary spherocytosis, although research is ongoing, at this point there is no cure for the genetic defect ... Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Spherocytes are found in ...
... hyperbilirubinemia, hepatosplenomegaly and skin lesions upon exposure to ultraviolet light. HCP is a rare disease, but the ... Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by ... 121300 COPROPORPHYRIA, HEREDITARY; HCP". Johns Hopkins University. Retrieved 2012-05-27. Tortorelli, Silvia; Kloke, Karen M.; ... "Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic ...
... and metabolism 271.0 Glycogenosis Von Gierke's disease McArdle's disease Pompe's disease 271.1 Galactosemia 271.2 Hereditary ... Purine nucleoside phosphorylase deficiency Xanthinuria 277.3 Amyloidosis Familial Mediterranean fever 277.4 Hyperbilirubinemia ... syndrome 277.6 Other deficiencies of circulating enzymes Alpha 1-antitrypsin deficiency Biotinidase deficiency Hereditary ...
Hereditary m Hereditary amyloidosis Hereditary angioedema Hereditary ataxia Hereditary carnitine deficiency myopathy Hereditary ... Hyperbilirubinemia transient familial neonatal Hyperbilirubinemia type 1 Hyperbilirubinemia type 2 Hyperbilirubinemia ... Hereditary t Hereditary nodular heterotopia Hereditary non-spherocytic hemolytic anemia Hereditary pancreatitis Hereditary ... Hereditary coproporphyria Hereditary deafness Hereditary elliptocytosis Hereditary fibrinogen Aα-Chain amyloidosis Hereditary ...
MCHC can be elevated ("hyperchromic") in hereditary spherocytosis, sickle cell disease and homozygous hemoglobin C disease, ... Causes of plasma opacification that can falsely increase the MCHC include hyperbilirubinemia, hypertriglyceridemia, and free ... in hereditary spherocytosis, among other causes) Red blood cell indices Mean corpuscular volume Mean corpuscular hemoglobin ...
Hyperbilirubinemia may be observed when hemolysis produces too much bilirubin through the excessive breakdown of red blood ... "Hereditary spherocytosis , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ... For infants with hemolytic jaundice, severe and prolonged cases of hyperbilirubinemia, or high serum bilirubin that does not ... Watson RL (March 2009). "Hyperbilirubinemia". Critical Care Nursing Clinics of North America. The High-Risk Neonate: Part I. 21 ...
Liver failure and hepatitis are the most etiological in liver-genesis hyperbilirubinemia. In case of hyperbilirubinemia due to ... "Hereditary Jaundice and Disorders of Bilirubin Metabolism - The Online Metabolic and Molecular Bases of Inherited Disease - ... Moreover, the unconjugated hyperbilirubinemia arises in case the components of liver transfer the indirect bilirubin into ... "Diseases Associated with Hyperbilirubinemia". library.med.utah.edu. 1995-01-05. Archived from the original on 2019-05-06. ...
American Academy of Pediatrics Subcommittee on Hyperbilirubinemia (July 2004). "Management of hyperbilirubinemia in the newborn ... They can be grouped into the following categories: Membrane conditions Spherocytosis Hereditary elliptocytosis Enzyme ... "Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation". Pediatrics. doi:10.1542/peds.2022-058859 ... This pattern of hyperbilirubinemia has been classified into two functionally distinct periods. Phase one Term infants - ...
"Safety and efficacy of lactoferrin versus ferrous sulphate in curing iron deficiency and iron deficiency anaemia in hereditary ... "Effect of induction of meconium evacuation using per rectal laxatives on neonatal hyperbilirubinemia in term infants: a ...
The Hyperbilirubinemias Chapter 332: Acute Viral Hepatitis Chapter 333: Toxic and Drug-Induced Hepatitis Chapter 334: Chronic ... Familial Mediterranean Fever and Other Hereditary Autoinflammatory Diseases Section 3: Disorders of the Joints and Adjacent ...
... is a hereditary disease affecting hemoglobin. As with about half of all hereditary diseases, an inherited ... due to hyperbilirubinemia from peripheral hemolysis). These complications are mostly found in thalassemia major and intermedia ... Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. It ... or hereditary persistence of fetal hemoglobin syndromes. Mutations are characterized as (βo) if they prevent any formation of β ...
... as in hereditary spherocytosis and hereditary elliptocytosis) Defects in hemoglobin production (as in thalassemia, sickle-cell ... leading to hemoglobinemia and increasing the risk of ensuing hyperbilirubinemia. Intravascular hemolysis may occur when red ... Pulmonary hypertension has been gaining recognition as a complication of chronic hereditary and acquired hemolysis. Free ...
The syndrome cannot cause severe indirect hyperbilirubinemia in neonates by itself, but it may have a summative effect on ... "Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis". ... J L Gollan; C Bateman; B H Billing (1976). "Effect of dietary composition on the unconjugated hyperbilirubinaemia of Gilbert's ... This substance then accumulates in the body, causing mild hyperbilirubinemia. Gilbert syndrome is a phenotypic effect, mostly ...
Hereditary (inherited) hemolytic anemia can be due to : Defects of red blood cell membrane production (as in hereditary ... leading to hemoglobinemia and increasing the risk of ensuing hyperbilirubinemia. Intravascular hemolysis may occur when red ... Sometimes splenectomy can be helpful where extravascular hemolysis, or hereditary spherocytosis, is predominant (i.e., most of ... "Red blood cell vesiculation in hereditary hemolytic anemia". Frontiers in Physiology. 4: 365. doi:10.3389/fphys.2013.00365. ...
These two types, along with Gilbert's syndrome, Dubin-Johnson syndrome, and Rotor syndrome, make up the five known hereditary ... neonatal period 12 hours/day phototherapy heme oxygenase inhibitors to reduce transient worsening of hyperbilirubinemia ( ...
From a genetic standpoint, this accounts for the other 70% of cases and represents the majority of hereditary hearing loss. ... hyperbilirubinaemia, ototoxic medication, and infection as well as noise exposure in the neonatal units. The risk of hearing ... Rehm H. "The Genetics of Deafness; A Guide for Patients and Families" (PDF). Harvard Medical School Center For Hereditary ...
This is exemplified in the early diagnosis of hereditary pyropoikilocytosis in the Sicilian girl. Deterioration with fever is ... This shortened erythrocyte life-span and increased destruction links to hyperbilirubinemia which often presents as jaundice in ... The Sicilian girl's mother had benign hereditary elliptocytosis, a dominant condition resulting in elongated erythrocytes, ... hereditary elliptocytosis, speculatively also relating to ATP depletion. Characterised as a recessive disorder, symptomatic ...
The main accumulation targets of hyperbilirubinemia are the basal ganglia, ocular movement nucleus, and acoustic nucleus of the ... and Hereditary Metabolic Disorders: Prevention, Assessment, and Treatment. Oxford Scholarship Online. doi:10.1093/acprof:oso/ ... encephalopathy leading to cerebral palsy has been greatly reduced by effective monitoring and treatment for hyperbilirubinemia ...
Birth weight less than 1,500g (3.3 lbs). Hyperbilirubinemia at levels quiring exchange transfusion. Bacterial meningitis. ... genetic or hereditary hearing loss) and requiring amplification. List of Developing Countries as of January 1, 2013: *"Occupied ...
... hereditary, type III; 610618; F12 Angioedema, hereditary, types I and II; 106100; C1NH Angiopathy, hereditary, with nephropathy ... CETP Hyperbilirubinemia, familial transcient neonatal; 237900; UGT1A1 Hypercarotenemia and vitamin A deficiency, autosomal ... ENG Hereditary hemorrhagic telangiectasia-2; 600376; ACVRL1 Hereditary motor and sensory neuropathy VI; 601152; MFN2 Hereditary ... distal hereditary motor, type IIB; 608634; HSPB1 Neuropathy, distal hereditary motor, type V; 600794; BSCL2 Neuropathy, distal ...
"Welcome to the Hereditary Hearing Loss Homepage , Hereditary Hearing Loss Homepage". hereditaryhearingloss.org. Retrieved 2019- ... Osteoporosis, stapedectomy surgery, pneumococcal vaccinations, mobile phone users, and hyperbilirubinemia at birth are among ...
... and jaundice/hyperbilirubinemia. These associations do not denote a causal relationship for any individual factor. There is ... studies have indicated a possible link between thimerosal and autism in individuals with a hereditary predisposition for ... this association may hold true for individuals with a hereditary predisposition for autoimmune disorders. Environmental ...
Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be ... "Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia". J. Clin. Invest. ... Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ...
Hereditary spherocytosis (HS) is a familial hemolytic disorder associated with a variety of mutations that lead to defects in ... Anemia or hyperbilirubinemia may be of such magnitude as to require exchange transfusion in the neonatal period. Anemia usually ... encoded search term (Hereditary Spherocytosis) and Hereditary Spherocytosis What to Read Next on Medscape ... Gallagher PG, Glader B. Hereditary Spherocytosis, Hereditary Elliptocytosis, and Other Disorders Associated with Abnormalities ...
A common feature of congenital nonhemolytic hyperbilirubinemias is an abnormal serum bilirubin level without other ... Congenital nonhemolytic hyperbilirubinemias (CNH) are quite rare pathology of liver. They occur most often in children, but are ... Hereditary genetics defect of enzymes taking part in metabolism of bilirubin is the cause of CNH. They are divided into two ... Congenital nonhemolytic hyperbilirubinemias Ann Univ Mariae Curie Sklodowska Med. 2004;59(1):449-52. ...
BRT and CBR were determined from studies of radiobilirubin kinetics in 14 patients undergoing splenectomy for hereditary ... Hyperbilirubinemia, Hereditary / diagnosis* * Liver / physiopathology* * Male * Middle Aged * Spherocytosis, Hereditary / ... BRT and CBR were determined from studies of radiobilirubin kinetics in 14 patients undergoing splenectomy for hereditary ... Effect of splenectomy of hepatic bilirubin clearance in patients with hereditary spherocytosis. Implications for the diagnosis ...
Christensen RD, Henry E. Hereditary spherocytosis in neonates with hyperbilirubinemia. Pediatrics. 2010 Jan. 125(1):120-5. [ ... Neonatal hyperbilirubinemia. Taeusch HW, Ballard RA, eds. Averys Diseases of The Newborn. 8th ed. Philadelphia, Pa: Elsevier ... Guideline] Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004 Jul. 114(1): ... Management of hyperbilirubinemia is a major concern in newborns with ABO incompatibility. The criteria for exchange transfusion ...
1980) Hereditary hyperbilirubinemias. Prog. Med. Genet. 4:103-134.. OpenUrlPubMed. *↵ Parman, T., Chen, G., Bray, T. M. and ... Hereditary UGT deficiencies in rats and humans have been shown to decrease the glucuronidation of the analgesic drug ... Hereditary UGT deficiencies may allow greater bioactivation to free radical reactive intermediates that can initiate the ... Gilberts syndrome, a moderate hereditary bilirubin-UGT deficiency due to UGT1*1 gene mutations, is estimated to occur in 6% to ...
Serum total bilirubin , 2.0 mg/dL (34.2 μmol/L); or , 3.0 x ULN for subjects with hereditary benign hyperbilirubinemia ...
Hereditary amyloid nephropathy Periodic familial polyserositis Recurrent polyserositis 277.39 Other amyloidosis Hereditary ... hyperbilirubinemias specific to the perinatal period (774.0-774.7) 277.5 Mucopolysaccharidosis Gargoylism Hunters syndrome ... hereditary hemolytic anemias (282.0-282.9) 273.0 Polyclonal hypergammaglobulinemia Hypergammaglobulinemic purpura: benign ... 277.09 With other manifestations 277.1 Disorders of porphyrin metabolism Hematoporphyria Hematoporphyrinuria Hereditary ...
Inborn Metabolic Disorders Causing Hyperbilirubinemia - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from ... Hereditary or inborn metabolic disorders may cause unconjugated or conjugated hyperbilirubinemia (see Overview of bilirubin ... in contrast to the unconjugated hyperbilirubinemia in Gilbert syndrome Gilbert Syndrome Hereditary or inborn metabolic ... Glucuronyl transferase activity is low, though not as low as in Crigler-Najjar syndrome Crigler-Najjar Syndrome Hereditary or ...
This rare autosomal recessive condition is characterized by conjugated hyperbilirubinemia with normal liver transaminases, a ... Hereditary hyperbilirubinemias can be divided into conjugated and unconjugated forms, and they may be caused by increased ... Zlotogora J. Hereditary disorders among Iranian Jews. Am J Med Genet. 1995 Jul 31. 58(1):32-7. [QxMD MEDLINE Link]. ... Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin ...
The hereditary herding is death which has both tissue and its human control that is dose. standard active shop національне ... The alveolar shop національне is that tissue of the hyperbilirubinemia early for including eyesight place children. shop ... hereditary standard heat white cause mellitus EL provide into two ventricular props: the wide-ranging and other others. back, ... In hereditary blood tuberculosis 1, the HIV-infected chapter is especially also provided, and the patients are antiretroviral. ...
Hereditary spherocytosis (HS) is a familial hemolytic disorder associated with a variety of mutations that lead to defects in ... Anemia or hyperbilirubinemia may be of such magnitude as to require exchange transfusion in the neonatal period. Anemia usually ... encoded search term (Hereditary Spherocytosis) and Hereditary Spherocytosis What to Read Next on Medscape ... Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. N Engl J Med. ...
Jaundice/Cholestasis • Bilirubin/Bile Formation • Pathophysiology • Neonatal Jaundice • Hereditary Hyperbilirubinemia • ... CHOLELITHIASIS • Prevalence • Risk Factors • Ethnic/Geographic • Age/Sex • Environment • Acquired • Hereditary Factors • Stones ...
ULN for patients with hereditary benign hyperbilirubinaemia.. Hematologic growth factors are not allowed at screening or during ...
Familial nonhemolytic unconjugated hyperbilirubinemia. *Hereditary unconjugated hyperbilirubinemia. *Bilirubin ... Emergent treatment during the hyperbilirubinemia crisis may be required. Most patients survive into puberty without any serious ...
Fructose aldolase B deficiency, see Hereditary fructose intolerance. *Fructose intolerance, see Hereditary fructose intolerance ... Familial nonhemolytic unconjugated hyperbilirubinemia, see Crigler-Najjar syndrome. *Familial nonpolyposis colon cancer, see ... Fructose-1-phosphate aldolase deficiency, see Hereditary fructose intolerance. *Fructosemia, see Hereditary fructose ... Familial pancreatitis, see Hereditary pancreatitis. *Familial paraganglioma syndrome, see Hereditary paraganglioma- ...
Genetic defects and hereditary diseases. Genetic defects in enamel or dentin formation include amelogenesis imperfecta (AI), ... These diseases have the potential to cause hyperbilirubinemia and the subsequent dose-dependent incorporation of biliverdin (a ... Other hereditary diseases include erythropoietic (congenital) porphyria and epidermolysis bullosa (EB). Erythropoietic ... Diseases that can cause hyperbilirubinemia and intrinsic tooth discoloration include sickle cell anemia; thalassemia; hemolytic ...
Also can have hyperbilirubinemia and jaundice. * Gold standard for diagnosis is pancreatic biopsy with histological analysis, ... Hereditary (4%). Hereditary pancreatitis is autosomal dominant condition with incomplete penetrance (about 80%) and is related ... Timing for genetic testing for hereditary pancreatitis in pediatrics - Not recommended unless AP evolves into recurrent or ... Genetic counseling, particularly in Hereditary Pancreatitis, since there is a high risk of pancreatic cancer ...
Hereditary spherocytosis in neonates with hyperbilirubinemia. For lactating cows examples are given for both a Holstein and ...
Classify works on hereditary hyperbilirubinemia in QU 265.. [WD 205.5.L5] [This number not used] ...
functional (benign) hyperbilirubinemia (including rare hereditary pigmentary hepatoses);. indicated in the history of jaundice ...
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. Rets Anton et al. International ... Hereditary hemolytic anemia in newborns: clinical significance of genetic diagnosis]. Ohga Shouichi et al. [Rinsho ketsueki] ... Iron overload in patients with rare hereditary hemolytic anemia: Evidence-based suggestion on whom and how to screen. van ... Analysis of the causes of the misdiagnosis of hereditary spherocytosis. Ma Shiyue et al. Oncology reports 2018 Jul ...
Description The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated ... People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In ... hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This ... Genetic Heterogeneity of Hyperbilirubinemia See also Crigler-Najjar syndrome type I (HBLRCN1; 218800), Crigler-Najjar syndrome ...
Diseases : Gestational Diabetes, Hyperbilirubinemia: Hereditary. Pharmacological Actions : Antioxidants, Malondialdehyde Down- ...
Hereditary Hyperbilirubinemia + Hypercalcemia, Infantile, 1 hyperphosphatemic familial tumoral calcinosis + Hypoadiponectinemia ... Alpha-Fetoprotein, Hereditary Persistence of amino acid metabolic disorder + An inherited metabolic disorder that is ...
Hereditary jaundice and hyperbilirubinemia result from defects in the metabolism of bilirubin. These include disorders ... hyperbilirubinemia (deficiency in canalicular ATP-dependent transporters: ABCC2 [OMIM 601107], ABCB11 [OMIM 603201], or ATP8B1 ... resulting in predominantly unconjugated (indirect) hyperbilirubinemia (UDP-glucuronosyltransferase 1-1 deficiency) and those ...
This rare autosomal recessive condition is characterized by conjugated hyperbilirubinemia with normal liver transaminases, a ... Hereditary hyperbilirubinemias can be divided into conjugated and unconjugated forms. Examples are as follows [7] :. * ... Zlotogora J. Hereditary disorders among Iranian Jews. Am J Med Genet. 1995 Jul 31. 58(1):32-7. [QxMD MEDLINE Link]. ... Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin ...
Physiological and Hereditary Hyperbilirubinemia in Athletes: Role in Reducing Efficiency and Correction Methodology. Gunina L. ...
Common pathologies with hyperbilirubinemia. Hemolytic hyperbilirubinemia. - Sickle cell anemia (code D57 according to ICD-10); ... Hereditary spherocytosis (D58);. Autoimmune hemolytic anemia (D59.1);. Drug-induced hemolytic anemias (D59.0);. Other non- ... Hyperbilirubinemia or jaundice is a pathological condition that occurs with an increase in the content of bilirubin in the ... Etiotropic therapy of hyperbilirubinemia. Etiotropic therapy is a treatment aimed directly at the cause of the pathology. For ...
  • Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be attributed to a metabolic disorder. (wikipedia.org)
  • A common feature of congenital nonhemolytic hyperbilirubinemias is an abnormal serum bilirubin level without other abnormalities in routine liver functional tests. (nih.gov)
  • Hereditary genetics defect of enzymes taking part in metabolism of bilirubin is the cause of CNH. (nih.gov)
  • Effect of splenectomy of hepatic bilirubin clearance in patients with hereditary spherocytosis. (nih.gov)
  • Laboratory studies reveal conjugated hyperbilirubinemia, with total bilirubin serum levels usually in the 2- to 5-mg/dL range (but potentially as high as 25 mg/dL). (medscape.com)
  • Hyperbilirubinemia or jaundice is a pathological condition that occurs with an increase in the content of bilirubin in the blood plasma. (californiansforastrongeramerica.com)
  • Violation of this sequence at any stage leads to an increase in the concentration of blood bilirubin or hyperbilirubinemia. (californiansforastrongeramerica.com)
  • Rotor syndrome (OMIM #237450) is the simultaneous and complete deficiency of OATP1B1 and 1B3 which disrupts the hepatic reuptake of conjugated bilirubin and clinically presents as mild hyperbilirubinemia [7, 8]. (solvobiotech.com)
  • Congenital nonhemolytic hyperbilirubinemias (CNH) are quite rare pathology of liver. (nih.gov)
  • Once the diagnosis of congenital nonhemolytic hyperbilirubinemia is confirmed, patients should be informed of the disease process and its benign nature to prevent needless work-up in the future. (nih.gov)
  • Patient Experience with Congenital (Hereditary) Thrombotic Thrombocytopenic Purpura: A Conceptual Framework of Symptoms and Impacts. (cdc.gov)
  • They are divided into two groups: with unconjugated hyperbilirubinemia (Crigler-Najjar syndrome, Gilbert syndrome) and conjugated hyperbilirubinemia (Dubin-Johnson syndrome and Rotor syndrome). (nih.gov)
  • Dubin-Johnson syndrome and Rotor syndrome cause conjugated hyperbilirubinemia, but without cholestasis, causing no symptoms or sequelae other than jaundice. (merckmanuals.com)
  • Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ability of the enzyme. (wikipedia.org)
  • As result, it causes unconjugated hyperbilirubinemia and jaundice. (metabolicsupportuk.org)
  • According to this mechanism, jaundice occurs in severe malaria, hereditary diseases of the blood system. (californiansforastrongeramerica.com)
  • Decreased expression of OATP1B1 and 1B3 in cholestatic diseases correlates with jaundice [9], and chronic treatment with fusidic acid, a widely used bacteriostatic that besides OATP1B1 also inhibits NTCP and BSEP, is often accompanied by cholestasis and conjugated hyperbilirubinemia [10]. (solvobiotech.com)
  • Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination. (cdc.gov)
  • Clinical Utility of Targeted Next-Generation Sequencing Panel in Routine Diagnosis of Hereditary Hemolytic Anemia: A national reference laboratory experience. (cdc.gov)
  • Hereditary hemolytic anemia in newborns: clinical significance of genetic diagnosis]. (cdc.gov)
  • Iron overload in patients with rare hereditary hemolytic anemia: Evidence-based suggestion on whom and how to screen. (cdc.gov)
  • Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. (cdc.gov)
  • Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (biomedcentral.com)
  • He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (biomedcentral.com)
  • Hereditary spherocytosis (HS) is a familial hemolytic disorder associated with a variety of mutations that lead to defects in red blood cell (RBC) membrane proteins. (medscape.com)
  • BRT and CBR were determined from studies of radiobilirubin kinetics in 14 patients undergoing splenectomy for hereditary spherocytosis. (nih.gov)
  • Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. (cdc.gov)
  • Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis. (cdc.gov)
  • Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
  • Clinical Manifestations Nursing Management Clinical Manifestations Acute Pharyngitis Decreasing Fatigue COLORECTAL NEOPLASMS Endometrial Hyperplasia Human Immune Deficiency Virus Infection and Acquired Immune Deficiency Syndrome Medical Management Health Promotion Calcitonin Pacemaker Surveillance Acne Vulgaris Emergency Management Pathophysiology Pathophysiology Angiomas Hereditary Hyperbilirubinemia Assessment and Diagnostic Findings Medical Management Crohn's Disease (Regional Enteritis) Medical Management Unit 12: Kidney and Urinary Tract Function Complications Assessment and Diagnostic Findings Pathophysiology Otoscopic Examination Enfermería Medicoquirúrgica. (britzerdamm.de)
  • [ 1 ] This rare autosomal recessive condition is characterized by conjugated hyperbilirubinemia with normal liver transaminases, a unique pattern of urinary excretion of heme metabolites (coproporphyrins), and the deposition of a pigment that gives the liver a characteristic black color (see the image below). (medscape.com)
  • Patients with autosomal recessive type I (complete) disease have severe unconjugated hyperbilirubinemia typically beginning shortly after birth. (merckmanuals.com)
  • Patients with autosomal recessive type II (partial) disease (which has variable penetrance) often have less severe unconjugated hyperbilirubinemia ( 20 mg/dL [ 342 micromol/L]) and usually live into adulthood without neurologic damage. (merckmanuals.com)
  • Hereditary hemochromatosis and mild unconjugated hyperbilirubinemia in patient with ulcerative colitis. (krakow.pl)
  • After that diagnostic workups, such as for example determined tomography, magnetized resonance imaging, chromosomal evaluation, or any other hereditary analysis, was indeed performed because of the neonatologists as needed. (comfortdentalbd.com)
  • hereditary or acquired), and rare hereditary disorders of vitamin B12 metabolism or factors involved in hemostasis. (medilib.ir)
  • 3.0 × ULN for patients with hereditary benign hyperbilirubinaemia. (survivornet.com)
  • In addition, elevated serum AFP concentrations have been measured in patients with other noncancerous diseases, including ataxia telangiectasia, hereditary tyrosinemia, neonatal hyperbilirubinemia, acute viral hepatitis, chronic active hepatitis, and cirrhosis. (rapidtest.com)
  • If your child is suffering from neonatal hypoglycemia, hip displasia, kernicterus or hyperbilirubinemia or the after effects of these conditions, caused as a result of medical negligence by a health care provider, a UK specialist medical negligence solicitor can ensure that they get a fair deal by taking the guesswork out of selecting a lawyer. (dailyhealthscience.us)
  • Infants who required a stay in the neonatal intensive care unit are at increased risk for developing hearing loss due to hypoxia, hyperbilirubinemia, very low birth weight, and ototoxic medications. (redrosehearing.com)
  • Hereditary fructose intolerance is a metabolic disorder in which the small intestine cannot process fructose (fruit sugar) into a source of energy because of an enzyme deficiency that prevents fructose absorption. (healthofchildren.com)
  • Hereditary fructose intolerance is estimated to affect one in about 20,000 people. (healthofchildren.com)
  • Several gene mutations causing hereditary fructose intolerance have been identified. (healthofchildren.com)
  • Avoid use of PHEBURANE in patients with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase-isomaltase insufficiency. (nih.gov)
  • Hereditary hemolytic anemia (HHA) is a group of genetically and phenotypically heterogeneous disorders characterized by premature destruction of red blood cells (RBCs) with clinical manifestations ranging from asymptomatic to marked hemolytic anemia. (nih.gov)
  • [ 17 ] This technique does not differentiate between HS and autoimmune hemolytic anemia (AIHA), but it distinguishes HS from other hereditary membrane disorders. (medscape.com)
  • Osmotic gradient ektacytometry distinguishes HS from other hereditary membrane pathologies but does not differentiate HS from autoimmune hemolytic anemia. (medscape.com)
  • Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. (nature.com)
  • Several inherited disorders can also produce unconjugated hyperbilirubinemia, including Gilbert syndrome, Crigler-Najjar syndromes type I and II, and inherited disorders causing hemolytic anemia. (statpearls.com)
  • Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (beds.ac.uk)
  • Scientists have identified more than 400 different forms of hereditary hearing loss. (redrosehearing.com)
  • This because of the peculiarity of the condition itself, Gilbert's disease is hereditary in nature yet unlike other hereditary diseases it does not have any major effects on the body. (in.my)
  • The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins. (amedeo.com)
  • For this purpose, we developed a target capture sequencing (TCS) system for precise and comprehensive diagnosis of suspected hereditary red cell membrane disorders in patients 10 . (nature.com)
  • Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1: OMIM#194380) is a dominantly inherited red cell membrane disorder caused by gain-of-function mutations of PIEZO1 in most cases. (nature.com)
  • Dehydrated hereditary stomatocytosis-2 (DHS2, OMIM#616689) is caused by a heterozygous mutation in KCNN4 . (nature.com)
  • We participated in clinical research on patients with hereditary red cell membrane disorders. (nature.com)
  • Neurodegeneration with brain iron accumulation (NBIA) is a term used for a group of hereditary neurological disorders with abnormal accumulation of iron in basal ganglia. (bvsalud.org)
  • The mildest and usual Gilbert syndrome is characterized by mild hyperbilirubinemia caused by mutations that lead to reduced levels of gene expression. (ivami.com)
  • This activity describes the pathophysiology and management of unconjugated hyperbilirubinemia. (statpearls.com)
  • Explain how to differentiate unconjugated hyperbilirubinemia from conjugated hyperbilirubinemia. (statpearls.com)
  • Over 70 years ago, a disease characterized by CPH was first described in Southdown sheep flocks in New Zealand.1 Results of subsequent breeding trials revealed that the disease was caused by an inherited recessive trait.2 In the 1960s, the disease was observed in Southdown sheep in California.3 Affected sheep had hyperbilirubinemia but no discoloration of the liver and also had delayed clearance of various organic anions. (hmto-hnas.com)
  • A hepatopathy screening including viral hepatitis (hepatitis B, C, D, and E), auto-immune and hereditary liver disease was negative, except a document of remote hepatitis A infection. (biomedcentral.com)
  • Gilbert syndrome is frequently an autonomic recessive disorder and is a familiar origin of unconjugated hyperbilirubinaemia. (in.my)
  • for spherocytes and, thus, eliminates anemia and hyperbilirubinemia and lowers the high reticulocyte number to nearly normal levels. (shadowebike.com)
  • Therefore, unconjugated hyperbilirubinemia can result from dysfunction of any of these conjugation steps. (statpearls.com)
  • Such as syringe is usually idiopathic and does not increase restenosis rate remains high enough quality to allow prognostic evaluation, despite the lack of a hereditary condition. (lowerbricktown.com)
  • Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). (nih.gov)
  • The patient has been handled for about six weeks with antibiotics along with percutaneous drain pipes put into learn more the greatest abscesses and was discharged after specialized medical improvement and resolution from the hyperbilirubinemia. (tauroursodeoxycholic.com)