Hamartoma
Hamartoma Syndrome, Multiple
Hypothalamic Diseases
Brunner Glands
Receptors, Wnt
Duodenal Diseases
Laughter
Tongue Diseases
Median Neuropathy
Splenic Diseases
Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome. (1/373)
Peutz-Jeghers syndrome was diagnosed in a 51-year-old woman presenting with iron deficiency anaemia. Upper gastrointestinal endoscopy and colonoscopy revealed several hamartomatous polyps in the stomach, duodenum and colon, which were removed. At a combined surgical-endoscopic procedure, 42 hamartomatous polyps were removed from the small intestine by snare polypectomy. This enteroscopic procedure reduces symptoms, may protect against future intestinal obstructive episodes and their associated surgery, and may reduce the risk of developing gastrointestinal malignancy. (+info)Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot. (2/373)
The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue that contains GnRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle. HH is a well recognised cause of gonadotropin dependent precocious puberty (GDPP). Long term data are presented on eight children (five boys and three girls) with GDPP due to HH. Physical signs of puberty were observed before 2 years of age in all patients. At presentation with sexual precocity, the mean height standard deviation (SD) for chronological age was +1.60 (1.27) and the mean height SD for bone age was -0.92 (1.77). Neurological symptoms were absent at presentation and follow up. The hamartoma diameter ranged from 5 to 18 mm and did not change in six patients who had magnetic resonance imaging follow up. All patients were treated clinically with GnRH agonists (GnRH-a). The duration of treatment varied from 2.66 to 8.41 years. Seven of the eight children had satisfactory responses to treatment, shown by regression of pubertal signs, suppression of hormonal levels, and improvement of height SD for bone age and predicted height. One patient had a severe local reaction to GnRH-a with failure of hormonal suppression and progression of pubertal signs. It seems that HH is benign and that GnRH-a treatment provides satisfactory and safe control for most children with GDPP due to HH. (+info)Colonic hamartoma development by anomalous duplication in Cdx2 knockout mice. (3/373)
To determine the biological role of caudal-like homeobox gene CDX2, we constructed knockout mice in which its mouse homologue Cdx2 was inactivated by homologous recombination, placing a bacterial lacZ gene under the control of the Cdx2 promoter. Although the homozygous mutants died in utero around implantation, the heterozygotes were viable and fertile and expressed lacZ in the caudal region in early embryos and in the gut tissues in adults. The heterozygotes developed cecal and colonic villi by anteriorization and formed hamartomatous polyps in the proximal colon. The hamartoma started to develop at 11.5 days of gestation as an outpocket of the gut epithelium, which ceased to express the remaining Cdx2 allele. The outpocket then expanded as a partially duplicated gut but was contained as a hamartoma after birth. In adult mice, these hamartomas grew very slowly and took a benign course. None of them progressed into invasive adenocarcinomas, even at 1.5 years of age. Whereas the cecal and colonic villi expressed lacZ, the hamartoma epithelium did not, nor did it express Cdx2 mRNA from the wild-type allele. However, genomic DNA analysis of the polyp epithelium did not show a loss of heterozygosity of the Cdx2 gene, suggesting a mechanism of biallelic Cdx2 inactivation other than loss of heterozygosity. These results indicate that the Cdx2 haploin-sufficiency caused cecal and colonic villi, whereas the biallelic inactivation of Cdx2 triggered anomalous duplications of the embryonic gut epithelium, which were contained as hamartomas after birth. (+info)Solid mesenchymal hamartoma of the liver in adult. (4/373)
This paper presents an unusual solid mesenchymal hamartoma of the liver (MHL) in adult. A well defined solid mass in the left lobe of the liver was found in a 57-year-old female. Preoperative radiologic examinations demonstrated solid mass with multifocal calcifications abutting the gallbladder. By light microscopy, the lesion was composed of dense fibrous stroma with hyalinization, bile ducts and thick-walled vessels without hepatocytes. The solid and hyalinized mesenchymal component would suggest an unusual degenerative change representing a burnt-out MHL. (+info)Midline spinal cord hamartomas: MR imaging features of two patients. (5/373)
Congenital midline spinal hamartomas are relatively rare. Patients harboring this anomaly are generally asymptomatic, but present with an overlying skin anomaly. MR imaging depicts a mass that is isointense with the spinal cord on all sequences, and may show a dermal sinus tract that tethers the cord at the level of the lesion. We report the MR features of congenital midline spinal hamartoma in two children. (+info)Pallister-Hall syndrome: clinical and MR features. (6/373)
A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. (+info)A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. (7/373)
White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and "spongy" plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have already been demonstrated to be responsible for WSN; the identification of new keratin mutations in a stratified squamous epithelia closely related to epidermis is of relevance for the understanding of the biochemistry of intermediate filaments, and for genotype phenotype correlations. In this study we investigated a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the helix initiation motif of the 1A alpha helical domain of K4. We report this new K4 gene mutation and describe an amino acid insertion, in the 1A domain, responsible for a keratin disease. (+info)Cutaneous hamartoma of the hand: MR imaging findings. (8/373)
We report two cases of magnetic resonance imaging of the cutaneous hamartoma on the hand, which is a rare benign soft tissue tumor. (+info)A hamartoma is a benign tumor-like growth that is composed of an unusual mixture of cells and tissues that are normally found in the affected area. These growths can occur anywhere in the body, but they are most commonly found in the skin, lungs, and brain. Hamartomas are typically slow growing and do not spread to other parts of the body (metastasize). They are usually harmless, but in some cases, they may cause symptoms or complications depending on their size and location. In general, hamartomas do not require treatment unless they are causing problems.
Hamartoma syndrome, multiple is a genetic disorder also known as Cowden syndrome. It is characterized by the growth of hamartomas, which are benign tumors made up of an overgrowth of normal cells and tissues. These hamartomas can develop in various parts of the body, including the skin, mucous membranes, gastrointestinal tract, breasts, thyroid gland, and other organs.
People with multiple hamartoma syndrome are at an increased risk of developing certain types of cancer, particularly breast, thyroid, endometrial, and colon cancers. They may also have benign growths in the skin and mucous membranes, such as trichilemmomas (benign tumors of the hair follicle) and papillomatous papules (benign growths with a wart-like appearance).
Multiple hamartoma syndrome is caused by mutations in the PTEN gene, which is a tumor suppressor gene. This means that the gene normally helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. When the PTEN gene is mutated, it can lead to the development of hamartomas and increase the risk of cancer.
The diagnosis of multiple hamartoma syndrome is typically based on a combination of clinical features, family history, and genetic testing. Treatment may involve regular cancer screening and surveillance, as well as surgical removal of benign or malignant growths as needed.
Hypothalamic diseases refer to conditions that affect the hypothalamus, a small but crucial region of the brain responsible for regulating many vital functions in the body. The hypothalamus helps control:
1. Body temperature
2. Hunger and thirst
3. Sleep cycles
4. Emotions and behavior
5. Release of hormones from the pituitary gland
Hypothalamic diseases can be caused by genetic factors, infections, tumors, trauma, or other conditions that damage the hypothalamus. Some examples of hypothalamic diseases include:
1. Hypothalamic dysfunction syndrome: A condition characterized by various symptoms such as obesity, sleep disturbances, and hormonal imbalances due to hypothalamic damage.
2. Kallmann syndrome: A genetic disorder that affects the development of the hypothalamus and results in a lack of sexual maturation and a decreased sense of smell.
3. Prader-Willi syndrome: A genetic disorder that causes obesity, developmental delays, and hormonal imbalances due to hypothalamic dysfunction.
4. Craniopharyngiomas: Tumors that develop near the pituitary gland and hypothalamus, often causing visual impairment, hormonal imbalances, and growth problems.
5. Infiltrative diseases: Conditions such as sarcoidosis or histiocytosis can infiltrate the hypothalamus, leading to various symptoms related to hormonal imbalances and neurological dysfunction.
6. Traumatic brain injury: Damage to the hypothalamus due to head trauma can result in various hormonal and neurological issues.
7. Infections: Bacterial or viral infections that affect the hypothalamus, such as encephalitis or meningitis, can cause damage and lead to hypothalamic dysfunction.
Treatment for hypothalamic diseases depends on the underlying cause and may involve medications, surgery, hormone replacement therapy, or other interventions to manage symptoms and improve quality of life.
Brunner glands, also known as submucosal glands of Brunner, are tubulo-acinar exocrine glands located in the submucosa of the duodenum, which is the first part of the small intestine. These glands secrete alkaline mucus that helps neutralize the acidic chyme (partially digested food) entering from the stomach, providing a more favorable environment for the enzymes involved in nutrient absorption and protecting the duodenal mucosa from acid-induced damage.
Wnt receptors are a group of cell surface proteins that play a crucial role in the Wnt signaling pathway. This pathway is essential for various biological processes during embryonic development and tissue regeneration in adults, including cell proliferation, differentiation, migration, and survival. The Wnt receptors can be broadly classified into two categories:
1. Frizzled (FZD) receptors: These are seven-transmembrane domain proteins that serve as the primary receptors for Wnt ligands. There are ten FZD receptor subtypes (FZD1-10) in humans, and they interact with different Wnt proteins to initiate distinct signaling cascades.
2. Low-density lipoprotein receptor-related protein (LRP) co-receptors: LRP5 and LRP6 are single-pass transmembrane proteins that function as co-receptors for Wnt ligands, typically in conjunction with FZD receptors. They contribute to the stabilization of the Wnt signaling complex and help amplify downstream signals.
The binding of a Wnt ligand to a FZD receptor and an LRP co-receptor triggers various intracellular signaling pathways, such as the canonical Wnt/β-catenin pathway or non-canonical Wnt pathways (e.g., Wnt/Ca^2+^ and planar cell polarity pathways). Dysregulation of Wnt receptors and their associated signaling pathways has been implicated in several diseases, including cancer, developmental disorders, and degenerative conditions.
Duodenal diseases refer to a range of medical conditions that affect the duodenum, which is the first part of the small intestine. Here are some examples of duodenal diseases:
1. Duodenitis: This is inflammation of the duodenum, which can cause symptoms such as abdominal pain, nausea, vomiting, and bloating. Duodenitis can be caused by bacterial or viral infections, excessive use of nonsteroidal anti-inflammatory drugs (NSAIDs), or chronic inflammation due to conditions like Crohn's disease.
2. Peptic ulcers: These are sores that develop in the lining of the duodenum, usually as a result of infection with Helicobacter pylori bacteria or long-term use of NSAIDs. Symptoms can include abdominal pain, bloating, and heartburn.
3. Duodenal cancer: This is a rare type of cancer that affects the duodenum. Symptoms can include abdominal pain, weight loss, and blood in the stool.
4. Celiac disease: This is an autoimmune disorder that causes the immune system to attack the lining of the small intestine in response to gluten, a protein found in wheat, barley, and rye. This can lead to inflammation and damage to the duodenum.
5. Duodenal diverticulosis: This is a condition in which small pouches form in the lining of the duodenum. While many people with duodenal diverticulosis do not experience symptoms, some may develop complications such as inflammation or infection.
6. Duodenal atresia: This is a congenital condition in which the duodenum does not form properly, leading to blockage of the intestine. This can cause symptoms such as vomiting and difficulty feeding in newborns.
While I'm an assistant and not a doctor, I can share that laughter is not typically defined in a medical context. However, it's often studied in the field of psychology and health. Laughter is a human behavior characterized by involuntary vocalizations and facial expressions, often associated with positive emotions and humor.
From a physiological perspective, when we laugh, our bodies respond with a series of reactions. The diaphragm and abdominal muscles contract, causing us to breathe in and out rapidly, which can lead to increased heart rate and blood pressure. At the same time, the brain releases endorphins, which are chemicals associated with feelings of happiness and well-being.
In a medical context, laughter is sometimes used as a therapeutic tool. Laughter therapy, for instance, is used to promote physical and emotional health through intentional laughter exercises. It's believed that laughter can help reduce stress, improve mood, boost the immune system, and alleviate pain.
Nose diseases, also known as rhinologic disorders, refer to a wide range of conditions that affect the nose and its surrounding structures. These may include:
1. Nasal Allergies (Allergic Rhinitis): An inflammation of the inner lining of the nose caused by an allergic reaction to substances such as pollen, dust mites, or mold.
2. Sinusitis: Inflammation or infection of the sinuses, which are air-filled cavities in the skull that surround the nasal cavity.
3. Nasal Polyps: Soft, fleshy growths that develop on the lining of the nasal passages or sinuses.
4. Deviated Septum: A condition where the thin wall (septum) between the two nostrils is displaced to one side, causing difficulty breathing through the nose.
5. Rhinitis Medicamentosa: Nasal congestion caused by overuse of decongestant nasal sprays.
6. Nosebleeds (Epistaxis): Bleeding from the nostrils, which can be caused by a variety of factors including dryness, trauma, or underlying medical conditions.
7. Nasal Fractures: Breaks in the bone structure of the nose, often caused by trauma.
8. Tumors: Abnormal growths that can occur in the nasal passages or sinuses. These can be benign or malignant.
9. Choanal Atresia: A congenital condition where the back of the nasal passage is blocked, often by a thin membrane or bony partition.
10. Nasal Valve Collapse: A condition where the side walls of the nose collapse inward during breathing, causing difficulty breathing through the nose.
These are just a few examples of the many diseases that can affect the nose.
Tongue diseases refer to various medical conditions that affect the structure, function, or appearance of the tongue. These conditions can be categorized into several types, including:
1. Infections: Bacterial, viral, or fungal infections can cause tongue inflammation (glossitis), pain, and ulcers. Common causes include streptococcus, herpes simplex, and candida albicans.
2. Traumatic injuries: These can result from accidental bites, burns, or irritation caused by sharp teeth, dental appliances, or habitual habits like tongue thrusting or chewing.
3. Neoplasms: Both benign and malignant growths can occur on the tongue, such as papillomas, fibromas, and squamous cell carcinoma.
4. Congenital disorders: Some individuals may be born with abnormalities of the tongue, like ankyloglossia (tongue-tie) or macroglossia (enlarged tongue).
5. Neurological conditions: Certain neurological disorders can affect tongue movement and sensation, such as Bell's palsy, stroke, or multiple sclerosis.
6. Systemic diseases: Various systemic conditions can have symptoms that manifest on the tongue, like diabetes mellitus (which can cause dryness and furring), iron deficiency anemia (which may lead to atrophic glossitis), or Sjögren's syndrome (which can result in xerostomia).
7. Idiopathic: In some cases, the cause of tongue symptoms remains unknown, leading to a diagnosis of idiopathic glossitis or burning mouth syndrome.
Proper diagnosis and treatment of tongue diseases require a thorough examination by a healthcare professional, often involving a dental or medical specialist such as an oral pathologist, otolaryngologist, or dermatologist.
Median neuropathy, also known as Carpal Tunnel Syndrome, is a common entrapment neuropathy caused by compression of the median nerve at the wrist level. The median nerve provides sensation to the palm side of the thumb, index finger, middle finger, and half of the ring finger. It also innervates some of the muscles that control movement of the fingers and thumb.
In median neuropathy, the compression of the median nerve can cause symptoms such as numbness, tingling, and weakness in the affected hand and fingers. These symptoms may be worse at night or upon waking up in the morning, and can be exacerbated by activities that involve repetitive motion of the wrist, such as typing or using tools. If left untreated, median neuropathy can lead to permanent nerve damage and muscle wasting in the hand.
Splenic diseases refer to a range of medical conditions that affect the structure, function, or health of the spleen. The spleen is an organ located in the upper left quadrant of the abdomen, which plays a vital role in filtering the blood and fighting infections. Some common splenic diseases include:
1. Splenomegaly: Enlargement of the spleen due to various causes such as infections, liver disease, blood disorders, or cancer.
2. Hypersplenism: Overactivity of the spleen leading to excessive removal of blood cells from circulation, causing anemia, leukopenia, or thrombocytopenia.
3. Splenic infarction: Partial or complete blockage of the splenic artery or its branches, resulting in tissue death and potential organ dysfunction.
4. Splenic rupture: Traumatic or spontaneous tearing of the spleen capsule, causing internal bleeding and potentially life-threatening conditions.
5. Infections: Bacterial (e.g., sepsis, tuberculosis), viral (e.g., mononucleosis, cytomegalovirus), fungal (e.g., histoplasmosis), or parasitic (e.g., malaria) infections can affect the spleen and cause various symptoms.
6. Hematologic disorders: Conditions such as sickle cell disease, thalassemia, hemolytic anemias, lymphomas, leukemias, or myeloproliferative neoplasms can involve the spleen and lead to its enlargement or dysfunction.
7. Autoimmune diseases: Conditions like rheumatoid arthritis, systemic lupus erythematosus, or vasculitis can affect the spleen and cause various symptoms.
8. Cancers: Primary (e.g., splenic tumors) or secondary (e.g., metastatic cancer from other organs) malignancies can involve the spleen and lead to its enlargement, dysfunction, or rupture.
9. Vascular abnormalities: Conditions such as portal hypertension, Budd-Chiari syndrome, or splenic vein thrombosis can affect the spleen and cause various symptoms.
10. Trauma: Accidental or intentional injuries to the spleen can lead to bleeding, infection, or organ dysfunction.
Eccrine glands are the most numerous type of sweat glands in the human body, found in virtually all skin locations. They play a crucial role in thermoregulation by producing a watery sweat that cools the body when it evaporates on the skin surface. These glands are distributed over the entire body, with a higher concentration on the soles of the feet, palms of the hands, and forehead.
Structurally, eccrine glands consist of two main parts: the coiled secretory portion located in the dermis and the straight duct that extends through the dermis and epidermis to reach the skin surface. The secretory portion is lined with a simple cuboidal epithelium, while the duct is lined with a simple squamous or low cuboidal epithelium.
Eccrine glands are stimulated to produce sweat by the activation of the sympathetic nervous system, particularly through the release of acetylcholine at the neuro-glandular junction. The sweat produced is primarily water with small amounts of electrolytes, such as sodium, chloride, and potassium. This composition helps maintain the body's electrolyte balance while facilitating heat loss during physical exertion or in hot environments.