Townes-Brocks syndrome. (1/159)
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. (+info)Microdeletion 22q11 and oesophageal atresia. (2/159)
Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion. (+info)Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane. (3/159)
Laminins are major components of all basement membranes. They are a diverse group of alpha/beta/gamma heterotrimers formed from five alpha, three beta, and three gamma chains. Laminin alpha5 is a widely expressed chain found in many embryonic and adult basement membranes. During embryogenesis, alpha5 has a role in disparate developmental processes, including neural tube closure, digit septation, and placentation. Here, we analyzed kidney development in Lama5 mutant embryos and found a striking defect in glomerulogenesis associated with an abnormal glomerular basement membrane (GBM). This correlates with failure of the developmental switch in laminin alpha chain deposition in which alpha5 replaces alpha1 in the GBM at the capillary loop stage of glomerulogenesis. In the absence of a normal GBM, glomerular epithelial cells were in disarray, and endothelial and mesangial cells were extruded from within the constricting glomerulus, leading to a complete absence of vascularized glomeruli. In addition, a minority of Lama5 mutant mice lacked one or both kidneys, indicating that laminin alpha5 is also important in earlier kidney development. Our results demonstrate a dual role for laminin alpha5 in kidney development, illustrate a novel defect in glomerulogenesis, and indicate a heretofore unappreciated developmental role for the GBM in influencing the behavior of epithelial and endothelial cells. (+info)Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. (4/159)
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. In families 1, 2, and 3, nonsense mutations truncating the encoded protein N-terminal to or within the homeodomain produce typical limb and genitourinary abnormalities; in family 4, an expansion of an N-terminal polyalanine tract produces a similar phenotype; in family 5, a missense mutation, which alters an invariant domain, produces an exceptionally severe limb phenotype; and in family 6, in which limb abnormalities were atypical, no HOXA13 mutation could be detected. Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism. (+info)Fetuses and infants with congenital urinary system anomalies: correlation between prenatal ultrasound and postmortem findings. (5/159)
OBJECTIVE: Detection of congenital urinary system anomalies is an important part of the prenatal ultrasound examination. The present study compares prenatal ultrasonographic findings and postmortem examinations of fetuses and infants with renal and urinary tract anomalies. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (Trondheim, Norway) and autopsy performed during the period 1985-94. Results from the ultrasound examination and autopsy regarding urinary system anomalies were categorized according to the degree of concordance. RESULTS: Urinary system anomalies were found in 112 (27%) of 408 fetuses with congenital anomalies. The renal and/or urinary tract anomaly was the principal reason for induced abortion or cause of death in 50 cases (45%). In 97 (87%) of the 112 cases there was full agreement between the ultrasound observations and the autopsy findings. In five cases the autopsy revealed minor findings not mentioned in the ultrasound report. The main diagnosis was thus correct in 102 cases (91%). In four cases major autopsy findings had not been found by ultrasound examination; in another four, none of the autopsy findings were suspected by ultrasound, and in two, minor ultrasound findings were not confirmed at autopsy. CONCLUSIONS: The accordance between ultrasound diagnoses and postmortem examinations proved to be satisfactory. The close co-operation between ultrasonographers and perinatal pathologists is mutually beneficial. In addition to complementing prenatal diagnosis, postmortem examination is of vital importance for the quality control of ultrasonography in fetal diagnosis and plays an important role in genetic counseling. (+info)Autosomal dominant sacral agenesis: Currarino syndrome. (6/159)
Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information. (+info)Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. (7/159)
The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome. (+info)Prenatal diagnosis of urinary malformations: results in a series of 93 consecutive cases. (8/159)
OBJECTIVE: To evaluate the pertinence of prenatal diagnosis in cases of congenital uropathy. STUDY DESIGN: Retrospective evaluation over a period of 6.5 years. METHOD: 93 cases were involved in the comparison of prenatal ultrasonographic diagnosis with neonatal findings, autopsy results, and follow-up data. RESULTS: 33 fetuses had renal parenchymal lesions, 44 had excretory system lesions, and 6 had bladder and/or urethral lesions. Seventy-three pregnancies lead to live births. Eighteen terminations of pregnancy were performed on the parents' request for extremely severe malformations. Two intrauterine deaths were observed, and two infants died in the postnatal period. Prenatal diagnosis was obtained at an average of 27 weeks gestation. Diagnostic concordance was excellent in 82% and partial in 12% of cases with renal parenchymal lesions; the false-positive rate was 6%. For excretory system lesions, concordance was excellent in 87% and partial in 7.4% of cases, with a false-positive rate of 5.6%. Finally, concordance was excellent in 100% of cases of bladder and/or urethral lesions. The overall rate of total concordance was 86%. Partial concordance cases consisted of malformations different from those previously diagnosed, but prenatal diagnosis nevertheless lead to further investigations in the neonatal period and to proper management. The false-positive diagnoses (5.4%) never lead to termination of pregnancy. CONCLUSION: Prenatal diagnosis of congenital uropathy is effective. A third-trimester ultrasonographic examination is necessary to ensure proper neonatal management, considering that the majority of cases are diagnosed at this gestational age. (+info)Urogenital abnormalities refer to structural or functional anomalies affecting the urinary and genital systems, which can occur during fetal development and potentially impact both physiological functions and individual's quality of life.
Urogenital abnormalities refer to structural or functional anomalies that affect the urinary and genital systems. These two systems are closely linked during embryonic development, and sometimes they may not develop properly, leading to various types of congenital defects. Urogenital abnormalities can range from minor issues like a bifid scrotum (a condition where the scrotum is split into two parts) to more severe problems such as bladder exstrophy (where the bladder develops outside the body).
These conditions may affect urination, reproduction, and sexual function. They can also increase the risk of infections and other complications. Urogenital abnormalities can be diagnosed through physical examination, imaging tests, or genetic testing. Treatment options depend on the specific condition but may include surgery, medication, or lifestyle changes.
Urogenital sinus
"Pediatric Conditions - Abnormalities - Vaginal Anomalies: Urogenital Sinus". UrologyHealth.org. 2003-04-29. Archived from the ... The female urogenital sinus also gives rise to the urethra and vestibule of the vagina. A urogenital sinus anomaly is also a ... the urogenital sinus refers to the sinus in which the openings to the female's urethra and vagina are found. The urogenital ... The urogenital sinus is a part of the human body only present in the development of the urinary and reproductive organs. It is ...
Vaginal anomalies
"Urology Care Foundation - What Are Urogenital Sinus Abnormalities?". www.urologyhealth.org. Retrieved 2018-03-09. Lensen EJ, ... Women with uterine abnormalities may have associated renal abnormalities including unilateral renal agenesis. Some congenital ... Other abnormalities of the hymen can exist including the presence of septa, displacement and a hymen that consists of ... Other organs of the reproductive system may not be affected by an abnormality of the vagina. The uterus, fallopian tubes and ...
Prostate hypoplasia
Often associated with other abnormalities of the urogenital system. Often due to abnormality in mesenchymal cells and ... Prostate hypoplasia is the congenital abnormality of a small (or absent) prostate gland. ...
Amin J. Barakat
"Urogenital Abnormalities in Genetic Disease," Journal of Urology l36: 778, 1986. "Hypokalemic Alkalosis, Hyperreninemia, ... "Occurrence of Congenital Abnormalities of Kidney and Urinary Tract in 13,775 Autopsies," Urology, Jan. 1992. "Kidney ... "Antenatal Diagnosis of Renal Abnormalities: A Review of the State of the Art," Journal of the Southern Medical Association 82: ... "The Association of Congenital Abnormalities of the Kidney and Urinary Tract with Those of Other Organ Systems in 13,775 ...
Renal agenesis
Daoub, Ahmed; Drake, Thomas M. (2014-01-01). "Congenital abnormalities of the urogenital tract: the clue is in the cord?". BMJ ... It may be associated with an increased incidence of Müllerian duct abnormalities, which are abnormalities of the development of ... Up to 40% of women with a urogenital tract anomaly also have an associated renal tract anomaly. Adults with unilateral renal ...
Malpuech facial clefting syndrome
Urogenital abnormalities, or those affecting the urinary and reproductive systems, are common with the syndrome. Malpuech et al ... These include cleft lip and palate, omphalocele, urogenital and craniofacial abnormalities, skeletal deformities such as a ... and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal ... Congenital abnormalities of the heart have also been observed with Malpuech syndrome. From a healthy Japanese couple, Chinen ...
Goldberg-Shprintzen syndrome
Developmental abnormalities shown by people with Goldberg-Shprintzen syndrome may be ocular, cardiac, urogenital, and skeletal ... and mitral regurgitation Urogenital: Hirschsprung disease and constipation Optical: megalocornea and pale optic discs with poor ... and pointed chin Anatomical abnormalities: camptodactyly and clinodactyly of the second to fourth toes, and hypotonia ...
Birth defects of diethylstilbestrol
... infertility and urogenital abnormalities in development, such as cryptorchidism and hypospadias. Research published in the U.S ... "Urogenital tract abnormalities in sons of women treated with diethylstilbestrol". Pediatrics. 58 (4): 505-7. doi:10.1542/peds. ... "Urogenital abnormalities in men exposed to diethylstilbestrol in utero: a cohort study". Environmental Health. 8: 37. doi: ... DES-exposed daughters are at an increased risk of abnormalities of the reproductive tract, including vaginal epithelial changes ...
Fryns syndrome
Other features included distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities, including shawl scrotum, ... Pierson DM, Taboada E, Butler MG (March 2004). "Eye abnormalities in Fryns syndrome". Am. J. Med. Genet. A. 125A (3): 273-7. ... Two affected fetuses in 1 family showed severe craniofacial abnormalities with bilateral cleft lip and palate and ... These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal ...
Johnson-Munson syndrome
... hemivertebrae and various urogenital and/or intestinal abnormalities. Intrafamilial variability is important as one sister had ... Aphalangy, hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome, described only in three siblings. ... Johnson VP, Munson DP (Nov 1990). "A new syndrome of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis". Clin. ... lethal abnormalities (Potter sequence and pulmonary hypoplasia), while her affected brother was in good health with normal ...
Supernumerary nipples-uropathies-Becker's nevus syndrome
The urogenital abnormalities seen with SNUB syndrome are more difficult to characterize, since very few studies have ... When Becker's nevus syndrome presents specifically with supernumerary nipples and urogenital abnormalities, it may be referred ... The most common abnormality is ipsilateral breast hypoplasia, where the breasts are asymmetrical in size, shape, or placement. ... In one case report by A. Leung, renal abnormalities were found in a Chinese father with polythelia, but no kidney/urinary tract ...
G6PC3
... have a classic form of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities. Some ...
Tarlov cyst
... they are often associated with other congenital abnormalities (teratomes, dermoïdes, lipomes, and other abnormalities(uro- ... Type III: intra-dural; these are either congenital or caused by trauma; they are rarely associated with other abnormalities and ...
HOXD8
In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. ... end of this cluster have been associated with severe limb and genital abnormalities. ... a gene strongly expressed in the adult male and female urogenital tracts". Genomics. 13 (2): 425-30. doi:10.1016/0888-7543(92) ...
ZTTK syndrome
Characteristic abnormalities include cerebral cortex malformations, vision difficulties, musculoskeletal abnormalities and ... The majority of individuals diagnosed with ZTTK syndrome display congenital malformations such as urogenital and malformations ... Whole body musculoskeletal abnormalities have been observed in ZTTK syndrome patients, including hemivertebrae, scoliosis or ... Macrocephaly and brain white matter abnormalities have also been observed. Seizures often develop between the ages of 1 and 6 ...
Rudiger syndrome
... urogenital abnormalities and facial abnormalities. It has been described in a family where an affected brother and sister died ... Rudiger syndrome is a congenital disorder characterized by the association of severe growth retardation with abnormalities of ...
Diamond-Blackfan anemia
... thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and ... September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia". Blood. 112 (5): ... The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome (TCS)/mandibulofacial dysostosis ( ... A variety of other congenital abnormalities may also occur in DBA, such as hand anomalies. Diamond-Blackfan anemia is ...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Instead of separate urethral and vaginal openings, there is an urogenital sinus that is often covered by tissue resulting from ... Therefore, different degrees of external genital abnormalities can be found, ranging from normal perineum to penile urethra. ... urogenital closure and phallic urethra) occur between 8 and 12 weeks.[citation needed] Theoretically, if enough glucocorticoid ... or sexual dysfunction created by residual body abnormalities or by the genital surgery itself. From a perspective two decades ...
Caudal duplication
In gastrointestinal abnormalities, a mechanism known as "caudal twinning" is proposed in which during the 23rd to 25th day of ... This suggests that rarely seen cases of complete duplication of the urogenital and gastrointestinal tract are often ... If an abnormality is detected early on, psychological and surgical preparation may be required to resort to a cesarean section ... Treatment is often required to correct such abnormalities according to the range of symptoms present, whilst treatment options ...
Hand-foot-genital syndrome
Urogenital abnormalities include abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in ... Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of ... and the second phalanx of the second and fifth digits Urogenital Defects Females may have the following: Vesicoureteral reflux ...
Xenohormone
When high levels of xenoestrogen are experienced shortly after birth, "urogenital tract and nervous system development" are ... The negative effects of excessive xenoestrogen involve a long list of developmental abnormalities, especially when the exposure ...
List of MeSH codes (C13)
... urogenital abnormalities MeSH C13.371.820.700.132 - bladder exstrophy MeSH C13.371.820.700.374 - epispadias MeSH C13.371. ... urogenital MeSH C13.371.820.349.940 - tuberculosis, female genital MeSH C13.371.820.349.970 - tuberculosis, renal MeSH C13.371. ... urogenital neoplasms MeSH C13.371.820.800.418 - genital neoplasms, female MeSH C13.371.820.800.418.365 - fallopian tube ...
Trans man
... because high levels of testosterone during pregnancy can cause fetal abnormalities, specifically with the urogenital system of ...
Vaginal atresia
... ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal ... Parts of the urogenital system where the effects of BBS are seen include: ectopic urethra, kidney failure, uterus duplex, ... Though the Müllerian and urogenital sinuses play a huge role in the derivation of the vagina, it is unclear how much of a role ... Vaginal atresia is found to occur when the urogenital sinus does not contribute to the formation of the lower portion of the ...
NCAPG2
... ocular abnormalities, and defects in urogenital and limb morphogenesis. GRCh38: Ensembl release 89: ENSG00000146918 - Ensembl, ...
Congenital nephrotic syndrome
Depending on the specific syndrome, patients are at risk for Wilms' and other tumors, genital abnormalities, and nephrotic ... tumor suppressor gene regulates the expression of many genes involved in kidney and urogenital development. Mutations lead to ... Patients with Pierson syndrome have eye abnormalities, including nonreactive narrowing of the pupils (microcoria), and ... genitourinary abnormalities, and intellectual disability), and isolated nephrotic syndrome in infants. ...
List of diseases (U)
... nevus Unna's seborrhoeic eczema Unverricht-Lundborg disease Upington disease Upper limb defect eye and ear abnormalities Upton- ... synthetase deficiency Urinary calculi Urinary tract neoplasm Urioste-Martinez-Frias syndrome Urocanase deficiency Urogenital ...
Coloboma
... genital and/or urinary abnormalities, and ear abnormalities and deafness. Although these features are no longer used in making ... October 1998). "The prevalence of PAX2 mutations in patients with isolated coloboma or colobomata associated with urogenital ... Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome. Typically a coloboma appears ... Patau syndrome (trisomy 13), a chromosomal abnormality that can cause a number of deformities, some of which include structural ...
Schistosomiasis
Ultrasound may be used to look for abnormalities in the liver and spleen in hepatosplenic schistosomiasis, and CT scan of the ... CT scan can also be used to assess damages from the schistosomiasis infection in the intestinal, urogenital, and central ... Because of praziquantel's lower cost per treatment, and oxaminiquine's lack of efficacy against the urogenital form of the ... S. haematobium, the infectious agent responsible for urogenital schistosomiasis, infects over 112 million people annually in ...
Hypospermia
Abnormalities or absence of these structures can lead to low volume of semen and infertility in males. This condition can also ... Imaging the urogenital system via an ultrasound is the first-line imaging test for hypospermia. This assessment looks out for ... Hormonal abnormalities caused by either primary or secondary hypogonadism can be treated with off-label use of oral clomiphene ... Abnormalities in the seminal vesicle and vas deferens usually don't respond well to surgeries or medications. In such ...
Urogenital Abnormalities | Profiles RNS
"Urogenital Abnormalities" by people in this website by year, and whether "Urogenital Abnormalities" was a major or minor topic ... "Urogenital Abnormalities" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. ... Below are the most recent publications written about "Urogenital Abnormalities" by people in Profiles. ...
Urogenital Abnormalities | Profiles RNS
"Urogenital Abnormalities" by people in this website by year, and whether "Urogenital Abnormalities" was a major or minor topic ... "Urogenital Abnormalities" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. ... Below are the most recent publications written about "Urogenital Abnormalities" by people in Profiles. ...
May 1977 - Volume 59 - Issue 5 : Plastic and Reconstructive Surgery
Rescriptor: Package Insert - Drugs.com
Urogenital System: Acute kidney failure.. Laboratory Abnormalities:. Marked laboratory abnormalities observed in at least 2% of ... Marked laboratory abnormalities are defined as any Grade 3 or 4 abnormality found in patients at any time during study. ... Marked Laboratory Abnormalities Reported by ≥2% of Patients N/A = not applicable because no predose values were obtained for ... One infant was born HIV-positive but was otherwise healthy and with no congenital abnormalities detected, and 1 infant was born ...
RTECS:MP1400000 - 2-Hexanone - The Registry of Toxic Effects of Chemical Substances | CDC/NIOSH
Urogenital sinus - Wikipedia
"Pediatric Conditions - Abnormalities - Vaginal Anomalies: Urogenital Sinus". UrologyHealth.org. 2003-04-29. Archived from the ... The female urogenital sinus also gives rise to the urethra and vestibule of the vagina. A urogenital sinus anomaly is also a ... the urogenital sinus refers to the sinus in which the openings to the females urethra and vagina are found. The urogenital ... The urogenital sinus is a part of the human body only present in the development of the urinary and reproductive organs. It is ...
DailyMed - ACYCLOVIR injection, solution
Special Senses: Visual abnormalities.. Urogenital: Renal failure, elevated blood urea nitrogen, elevated creatinine (see ... No testicular abnormalities were seen in dogs given 50 mg/kg/day IV for 1 month (1 to 3 times human levels) or in dogs given 60 ... The following hematologic abnormalities occurred at a frequency of less than 1%: anemia, neutropenia, thrombocytopenia, ... Acyclovir should be used with caution in those patients who have underlying neurologic abnormalities and those with serious ...
DailyMed - CLOZAPINE tablet
Urogenital System Acute interstitial nephritis, nocturnal enuresis, priapism, renal failure, and retrograde ejaculation. Skin ... Correct electrolyte abnormalities. Discontinue clozapine if the QTc interval exceeds 500 msec. If patients experience symptoms ... Assessment of the relationship between atypical antipsychotic use and glucose abnormalities is complicated by the possibility ... and electrolyte abnormalities. Prior to initiating treatment with clozapine, perform a careful physical examination, medical ...
Glatopa (glatiramer acetate Injection): Uses, Dosage, Side Effects, Interactions, Warning
Urogenital System: urogenital neoplasm; urine abnormality; ovarian carcinoma; nephrosis; kidney failure; breast carcinoma; ... Hepatobiliary Disorders: cholelithiasis; liver function abnormality; cirrhosis of the liver; hepatitis; hepatic injury [see ... Urogenital. Frequent: Amenorrhea, hematuria, impotence, menorrhagia, suspicious papanicolaou smear, urinary frequency, and ...
Urogenital Squamous Cell Carcinoma: Practice Essentials, Pathophysiology of Penile SCC, Pathophysiology of Prostatic SCC
Little is known of the molecular genetic abnormalities in these neoplasms. DNA content can be diploid or aneuploid. [66, 67] ... encoded search term (Urogenital Squamous Cell Carcinoma) and Urogenital Squamous Cell Carcinoma What to Read Next on Medscape ... Urogenital Squamous Cell Carcinoma Updated: Feb 23, 2022 * Author: Giuseppe Micali, MD; Chief Editor: Dirk M Elston, MD more... ... Diagnosis of Urogenital SCC. The differential diagnosis for penile squamous cell carcinoma (SCC) includes the following:. * ...
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
Advanced Search Results - Public Health Image Library(PHIL)
Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf
... and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or ... Postaxial polydactyly, hypotonia, cerebral malformations, & urogenital abnormalities. (TOPORS is also assoc w/retinitis ... Postaxial polydactyly, hypotonia, cerebral malformations, hydronephrosis, & urogenital abnormalities. (CEP164 is also assoc w/ ... Dental & tongue abnormalities, aberrant oral frenulae, bifid uvula. Facial features 60%-80%. Dysmorphisms, frontal bossing, ...
Guidelines for Canadian Drinking Water Quality: Guideline Technical Document - Sulphide (as H2S) - Canada.ca
Link to research
Understanding functional mechanisms leading to the BILU syndrome | DecipherBILU | Project | Fact sheet | H2020 | CORDIS |...
Portal Regional da BVS
Side Effects of Remeron (mirtazapine): Interactions & Warnings
Courtney A. Plattner, MD
Registration Dossier - ECHA
Abnormalities:. no effects observed. Key result. Developmental effects observed:. no. Dose Formulation Analyses ... Furthermore, common variations mainly involving urogenital morphology and other findings were recorded in all the groups ... Abnormalities:. no effects observed. Key result. Developmental effects observed:. no. Conclusions:. The test material ... No other macroscopic abnormalities were observed. Abortions are occasionally observed in rabbit studies of this type, and in ...
Urogenital Tuberculosis in a Patient With AIDS
The case of a 38-year-old man with AIDS and urogenital tuberculosis is reviewed in detail. ... Diagnosis: Urogenital tuberculosis.. Management: The patients symptoms and radiological abnormalities persisted despite ... Urogenital Tuberculosis in a Patient With AIDS: An Unusual Presentation. Authors: André A Figueiredo, MD, PhD ; Antonio M Lucon ...
Frontiers | From Flies to Men: ROS and the NADPH Oxidase in Phagocytes
... urogenital tract, and eyes. In addition, liver abnormalities including nodular regenerative hyperplasia and non-cirrhotic ... 2007). Hepatic abnormalities in patients with chronic granulomatous disease. Hepatology 45, 675-683. doi: 10.1002/hep.21524 ... Absence of respiratory burst in X-linked chronic granulomatous disease mice leads to abnormalities in both host defense and ...
Lupron, Eligard (leuprolide) dosing, indications, interactions, adverse effects, and more
Reproductive/ urogenital: Testicular soreness/pain, impotence, decreased libido, gynecomastia, breast soreness/tenderness, ... Laboratory abnormalities: Decreased albumin, decreased hemoglobin/hematocrit, decreased prostatic acid phosphatase, decreased ... Urogenital system: Cervix disorder/neoplasm, dysmenorrhea, gynecomastia/breast disorders, menstrual disorder, urinary ... Laboratory abnormalities: Increased BUN, hyperglycemia, hyperlipidemia, hyperphosphatemia, abnormal liver function tests, ...
Mary A. McLoughlin<...
... and excretory urography for diagnosis of ectopic ureter in female dogs and identify concurrent urogenital abnormalities. ... Other congenital abnormalities were identified in 16 (571%) dogs and 7 (23.3%) cats (most commonly umbilical hernias, abdominal ... Abnormalities of the vestibule were identified in all examinations available for review (24/25). The paramesonephric septal ... Hydroureter and renal abnormalities were associated with distal urethral ectopic ureters on radiographic evaluations. ...
Radiography of Birds and Exotic Animals - WSAVA2004 - VIN
Egg binding and neoplastic enlargement of the gonads and kidneys are abnormalities of the urogenital tract. Celomic spilling of ... Most of the abnormalities of the musculoskeletal, circulatory, respiratory, digestive, and urogenital tract that are routinely ... Many abnormalities can be diagnosed by radiographic studies. Abnormalities of the musculoskeletal system include fractures and ... Abnormalities that can be radiographed are listed with the chelonians. Differences include the low radiographic opacity of the ...
Patients without Indwelling Urinary Catheters | Urine Culture Stewardship | HAI | CDC
Pediatric Nephrology | SIU School of Medicine
Ear Infection Remedies for Pets
Pregnant animals in the Gentian Violet studies showed fetal abnormalities including those to the musculoskeletal and urogenital ... The fetal death and abnormality studies suggest that it is not advisable to use this product on a pregnant or lactating bitch. ... The risks of fetal abnormality are just too high. Colloidal silver preparations and non-staining iodine compounds work almost ...
ATRX gene: MedlinePlus GeneticsCongenitalMalformationsRenalChromosomalReproductiveDisordersStructuralInfectionsDescriptorPenileDefectsManifestEvidenceDischargeCommonPatientsFemaleMajorDataProblemsUnknownPublicationsAnomaliesCongenitalDiseasesGenitalGonadal DysgenesisSkeletal abnormalitiesDifferentiationSyndromeUrethraAnatomicalHypoplasiaSinusPelvicGeneticGastrointestinalSystemHereditaryCognitiveCHROMOSOMEDiagnosisAnalGeneIncludeFemaleHistory
Congenital6
- Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. (ctsicn.org)
- Other congenital abnormalities were identified in 16 (571%) dogs and 7 (23.3%) cats (most commonly umbilical hernias, abdominal wall hernias cranial to the umbilicus, or sternal anomalies). (avma.org)
- ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
- Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
- The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
- 22q11.2 deletion syndrome, formerly known as DiGeorge or velocardiofacial syndrome, is a multisystem disorder with variable severity and number of associated features, classically including developmental delay, learning difficulties, congenital cardiac anomalies, palatal abnormalities, especially velopharyngeal insufficiency, hypocalcemia, and subtle facial dysmorphism. (unboundmedicine.com)
Malformations1
- The BILU syndrome is an autosomal dominant primary immunodeficiency that combines B cells Immunodeficiency, Limb abnormalities and Urogenital malformations. (europa.eu)
Renal1
- They also see acute emergencies related to electrolyte abnormality, renal failure, hypertension, CKD from urogenital abnormality in ICU, NICU and general admissions. (siumed.edu)
Chromosomal1
- Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. (elsevierpure.com)
Reproductive2
- The urogenital sinus is a part of the human body only present in the development of the urinary and reproductive organs. (wikipedia.org)
- The urogenital system includes the urinary and reproductive organs. (sanfrananimal.com)
Disorders1
- Birth defects can be defined as structural or functional abnormalities, including metabolic disorders, which are present from birth. (who.int)
Structural1
- Researchers now believe that some DES Sons were born with a small structural abnormality, such as a minor obstruction that could explain what appears to be their greater risk for testicular inflammation and infection. (desaction.org)
Infections1
- Patients were treated with a single dose of 1 g azithromycin, the consensus treatment for uncomplicated urogenital C. trachomatis infections at that time. (cdc.gov)
Descriptor1
- Urogenital Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ctsicn.org)
Penile2
- The penile part of the urethra originates from urogenital fold. (wikipedia.org)
- Genital tract abnormalities in stallions may manifest as: discharge, odor, straining to urinate, scrotal/penile swellings, and lethargy. (sanfrananimal.com)
Defects1
- In this study, we report that loss of the orphan receptor Ror1 results in a variety of phenotypic defects within the skeletal and urogenital systems and that Ror1 mutant mice display a postnatal growth retardation phenotype. (huji.ac.il)
Manifest1
- More invasive than disease caused by the urogenital serovars (D-K), LGV can manifest as 1) an inguinal syndrome, with genital ulceration and inguinal lymphadenopathy (buboes) and subsequent suppuration, and 2) an anogenitorectal syndrome, with proctocolitis and hyperplasia of intestinal and perirectal lymphatic tissue. (cdc.gov)
Evidence1
- The visceral examination revealed some abnormalities, however there was no evidence of a test-related increase in their occurrence. (europa.eu)
Discharge1
- Upon proctoscopic examination by 1 medical practitioner, patients were designated into 2 groups: 1 group with mucous membrane abnormalities (MMA+, n = 44) when mucopurulent anal discharge or bloody, ulcerative rectal lesions were found, and 1 group without MMA (MMA-, n = 30) when those symptoms were not found. (cdc.gov)
Common4
- A urogenital sinus anomaly is also a rare birth defect in women where the urethra and vagina both open into a common channel. (wikipedia.org)
- Furthermore, common variations mainly involving urogenital morphology and other findings were recorded in all the groups including Control. (europa.eu)
- The prevalence of asymptomatic bacteriuria (ASB) in patients without indwelling urinary catheters varies widely among groups and is more common in women, the elderly, those with urogenital abnormalities, institutionalized patients, and certain comorbidities. (cdc.gov)
- Epididymal cysts are the most common abnormality in DES Sons. (desaction.org)
Patients1
- Here we report 32 patients with, and 13 patients without, mucous membrane abnormalities in MSM with confirmed LGV in 2002-2003. (cdc.gov)
Female1
- The female urogenital sinus also gives rise to the urethra and vestibule of the vagina. (wikipedia.org)
Major1
- This graph shows the total number of publications written about "Urogenital Abnormalities" by people in this website by year, and whether "Urogenital Abnormalities" was a major or minor topic of these publications. (ctsicn.org)
Data1
- These genital abnormality and they represent 30% data were reconfirmed by the data available of all admissions in hospitals [ 1-4 ]. (who.int)
Problems1
- It has been suggested that these hormone changes can, in turn, lead to a variety of health problems including cancer, decreased fertility, and abnormalities in newborns. (benjaminbarber.org)
Unknown1
- Consider varicella zoster immune globulin in a patient with either unknown humoral immunity status or definitive humoral abnormalities and a history of exposure. (unboundmedicine.com)
Publications1
- Below are the most recent publications written about "Urogenital Abnormalities" by people in Profiles. (ctsicn.org)
Anomalies4
- Congenital urogenital anomalies are birth defects and inherited conditions that affect the urinary tract (kidneys, ureters, and bladder) or the genital tract (reproductive organs) also called the genitourinary system. (umiamihealth.org)
- Congenital urogenital anomalies can affect urine flow and cause kidney damage that may lead to nephrotic syndrome , acute kidney failure, or chronic kidney failure . (umiamihealth.org)
- Hydronephrosis and various urogenital anomalies are common and may be important in establishing a clinical diagnosis. (thefetus.net)
- Colonic duplication is often associated with anomalies of the urogenital system. (msdmanuals.com)
Congenital8
- Conclusion We observed a statistically significant but modest increase in the risk of major congenital abnormalities among offspring of males with a history of cancer, independent of the mode of conception. (medscape.com)
- Previous studies of adverse pregnancy outcomes, congenital abnormalities, genetic disease, and childhood cancer in children born to men with a history of cancer have in general been reassuring, both in terms of pregnancy outcome and rate of congenital malformations. (medscape.com)
- There is an increasing awareness of the importance of events occurring during fetal development for not only the risk of congenital abnormalities and pathologies occurring early in life but also for morbidity later in life. (medscape.com)
- Estimating the effects of relatively rare exposures such as paternal cancer and ARTs on pregnancy outcomes requires large cohorts, particularly when the outcomes of interest occur infrequently in the general population (eg, congenital abnormalities). (medscape.com)
- ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
- Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
- The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
- Fanconi anemia (FA) is a rare autosomal recessive disease characterized by congenital abnormalities, progressive bone marrow failure, and cancer susceptibility. (ashpublications.org)
Diseases2
- Abnormalities in many cornification components result in enhanced transepidermal water loss, compromise the defence against infections, and underlie the development of several skin diseases. (nature.com)
- Male urogenital diseases encompass a variety of conditions affecting the male reproductive and urinary systems. (genet.ca)
Genital3
- These genital abnormality and they represent 30% data were reconfirmed by the data available of all admissions in hospitals [ 1-4 ]. (who.int)
- More invasive than disease caused by the urogenital serovars (D-K), LGV can manifest as 1) an inguinal syndrome, with genital ulceration and inguinal lymphadenopathy (buboes) and subsequent suppuration, and 2) an anogenitorectal syndrome, with proctocolitis and hyperplasia of intestinal and perirectal lymphatic tissue. (cdc.gov)
- Clinical Correlations 16.1 and 16.2 , later in this chapter, discuss abnormalities of the urinary and genital systems, respectively. (clinicalgate.com)
Gonadal Dysgenesis1
- An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination. (sdsu.edu)
Skeletal abnormalities2
- Schinzel Giedion syndrome (SGS) is a rare genetic disorder with characteristic facial features, skeletal abnormalities, and ureteral obstruction which may lead to hydronephrosis. (thefetus.net)
- 3- , 5 FA patients often have skeletal abnormalities (e.g., thumb or limb abnormalities) and abnormal skin pigmentation (e.g., hypopigmentation or café au lait spots). (ashpublications.org)
Differentiation1
- A third theme comprises the dependence of differentiation and the maintenance of many structures in the urogenital system on epithelial-mesenchymal interactions. (clinicalgate.com)
Syndrome3
- Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. (wisc.edu)
- Other features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. (medlineplus.gov)
- The position of the gene at chromosome 11p13 is known through the association of WT with aniridia (lack of an iris), mental retardation and genitourinary abnormalities in the WAGR syndrome. (ed.ac.uk)
Urethra6
- Bladder cystography, also called voiding cystourethrogram (VCUG) or micturating cystourethrogram (MCUG), helps doctors diagnose urethra abnormalities or urinary dysfunction, such as bladder-control problems, blockages, or urinary tract infections (UTIs). (umiamihealth.org)
- The penile part of the urethra originates from urogenital fold. (wikipedia.org)
- The female urogenital sinus also gives rise to the urethra and vestibule of the vagina. (wikipedia.org)
- A urogenital sinus anomaly is also a rare birth defect in women where the urethra and vagina both open into a common channel. (wikipedia.org)
- Children's Hospital of Orange County 2023" In most mammals (excluding primates and species that have a cloaca), the urogenital sinus refers to the sinus in which the openings to the female's urethra and vagina are found. (wikipedia.org)
- The Urogenital Center at Cincinnati Children's provides high-quality, lifelong care for children with complex conditions that involve abnormalities of the bladder, urethra, vagina and anorectum. (cincinnatichildrens.org)
Anatomical1
- Usually associated with anatomical abnormalities and outlet obstruction. (hindawi.com)
Hypoplasia1
- Reported nervous system findings comprise a wide spectrum of inconsistent abnormalities, including mild/moderate hydrocephalus, hypoplasia or agenesis of the corpus callosum, cerebral atrophy, absence of cranial nerves with normal cranial nuclei, and abnormal gyration of the cerebral cortex. (thefetus.net)
Sinus2
- The urogenital sinus is a part of the human body only present in the development of the urinary and reproductive organs. (wikipedia.org)
- The urogenital sinus of non-primates is homologous to the vulval vestibule of primates. (wikipedia.org)
Pelvic1
- Static sequences were used to asses morphology of the supporting structures and anal sphincter complex, while dynamic ones to study abnormality of the pelvic organs by analyzing their position with reference lines. (minervamedica.it)
Genetic1
- It is now believed that idiopathic male infertility may be associated with several previously unidentified pathological factors, which include but are not limited to endocrine disruption as a result of environmental pollution, generation of reactive oxygen species (ROS)/sperm DNA damage, or genetic and epigenetic abnormalities [ 1753 ]. (uroweb.org)
Gastrointestinal1
- We describe our department experience in image analysis, measurements, grading and MRI report using a structured template based on the most recent recommendations issued by ESUR/ESGAR (European Society of Urogenital Radiology, European Society of Gastrointestinal and Abdominal Radiology). (minervamedica.it)
System2
- However, its mechanism involved in abnormalities of the male reproductive system is still unclear. (researchgate.net)
- These early forms of the kidney are later supplanted by the definitive metanephric kidneys, but as they regress, certain components are retained to be reused by other components of the urogenital system. (clinicalgate.com)
Hereditary1
- An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. (jefferson.edu)
Cognitive1
- An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. (nih.gov)
CHROMOSOME1
- FA patients also develop clonal chromosomal abnormalities in the bone marrow progenitor cells (i.e., chromosome 1 or 2 abnormalities or monosomy 7), which may evolve into myelodysplasia (MDS) or acute myeloblastic leukemia (AML). (ashpublications.org)
Diagnosis1
- Information about maternal diabetes diagnosis and abnormality of the result of a 2-h 75-g oral glucose tolerance test during pregnancy were obtained from the hospital records after delivery. (researchgate.net)
Anal1
- Upon proctoscopic examination by 1 medical practitioner, patients were designated into 2 groups: 1 group with mucous membrane abnormalities (MMA+, n = 44) when mucopurulent anal discharge or bloody, ulcerative rectal lesions were found, and 1 group without MMA (MMA-, n = 30) when those symptoms were not found. (cdc.gov)
Gene1
- Here we discuss the high resolution mapping studies to locate the position of the gene and conclude that the gonadal abnormalities in WAGR patients may be due to a defect in the WT gene itself. (ed.ac.uk)
Include1
- Theories include abnormalities in recanalization, a vascular insult, persistence of embryonic diverticula, and partial twinning. (msdmanuals.com)
Female1
- In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities. (wisc.edu)
History1
- Postnatal analysis of maternal history concerning glucose metabolism abnormalities during pregnancy among cryptorchid and healthy Finnish boys. (researchgate.net)
