A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
ATP-BINDING CASSETTE PROTEINS that are highly conserved and widely expressed in nature. They form an integral part of the ATP-sensitive potassium channel complex which has two intracellular nucleotide folds that bind to sulfonylureas and their analogs.
Proteins that bind specific drugs with high affinity and trigger intracellular changes influencing the behavior of cells. Drug receptors are generally thought to be receptors for some endogenous substance not otherwise specified.
Potassium channels where the flow of K+ ions into the cell is greater than the outward flow.
A benzothiadiazine derivative that is a peripheral vasodilator used for hypertensive emergencies. It lacks diuretic effect, apparently because it lacks a sulfonamide group.
A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.
Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
An enzyme that catalyzes the conversion of L-glutamate and water to 2-oxoglutarate and NH3 in the presence of NAD+. (From Enzyme Nomenclature, 1992) EC
A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.
Surgical removal of the pancreas. (Dorland, 28th ed)
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.
Heteromultimers of Kir6 channels (the pore portion) and sulfonylurea receptor (the regulatory portion) which affect function of the HEART; PANCREATIC BETA CELLS; and KIDNEY COLLECTING DUCTS. KATP channel blockers include GLIBENCLAMIDE and mitiglinide whereas openers include CROMAKALIM and minoxidil sulfate.
Antibodies specific to INSULIN.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
Enzymes that reversibly catalyze the oxidation of a 3-hydroxyacyl CoA to 3-ketoacyl CoA in the presence of NAD. They are key enzymes in the oxidation of fatty acids and in mitochondrial fatty acid synthesis.
Cell membrane glycoproteins that are selectively permeable to potassium ions. At least eight major groups of K channels exist and they are made up of dozens of different subunits.
An infant during the first month after birth.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
A potent inhibitor of CYCLIN-DEPENDENT KINASES in G1 PHASE and S PHASE. In humans, aberrant expression of p57 is associated with various NEOPLASMS as well as with BECKWITH-WIEDEMANN SYNDROME.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Irregular microscopic structures consisting of cords of endocrine cells that are scattered throughout the PANCREAS among the exocrine acini. Each islet is surrounded by connective tissue fibers and penetrated by a network of capillaries. There are four major cell types. The most abundant beta cells (50-80%) secrete INSULIN. Alpha cells (5-20%) secrete GLUCAGON. PP cells (10-35%) secrete PANCREATIC POLYPEPTIDE. Delta cells (~5%) secrete SOMATOSTATIN.
A sulphonylurea hypoglycemic agent with actions and uses similar to those of CHLORPROPAMIDE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p290)
A type of pancreatic cell representing about 50-80% of the islet cells. Beta cells secrete INSULIN.
A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.
Glucose in blood.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A benzenesulfonamide-phthalimidine that tautomerizes to a BENZOPHENONES form. It is considered a thiazide-like diuretic.
A potent, long-acting synthetic SOMATOSTATIN octapeptide analog that inhibits secretion of GROWTH HORMONE and is used to treat hormone-secreting tumors; DIABETES MELLITUS; HYPOTENSION, ORTHOSTATIC; HYPERINSULINISM; hypergastrinemia; and small bowel fistula.
A pancreatic polypeptide of about 110 amino acids, depending on the species, that is the precursor of insulin. Proinsulin, produced by the PANCREATIC BETA CELLS, is comprised sequentially of the N-terminal B-chain, the proteolytically removable connecting C-peptide, and the C-terminal A-chain. It also contains three disulfide bonds, two between A-chain and B-chain. After cleavage at two locations, insulin and C-peptide are the secreted products. Intact proinsulin with low bioactivity also is secreted in small amounts.
A nodular organ in the ABDOMEN that contains a mixture of ENDOCRINE GLANDS and EXOCRINE GLANDS. The small endocrine portion consists of the ISLETS OF LANGERHANS secreting a number of hormones into the blood stream. The large exocrine portion (EXOCRINE PANCREAS) is a compound acinar gland that secretes several digestive enzymes into the pancreatic ductal system that empties into the DUODENUM.
A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.
The middle segment of proinsulin that is between the N-terminal B-chain and the C-terminal A-chain. It is a pancreatic peptide of about 31 residues, depending on the species. Upon proteolytic cleavage of proinsulin, equimolar INSULIN and C-peptide are released. C-peptide immunoassay has been used to assess pancreatic beta cell function in diabetic patients with circulating insulin antibodies or exogenous insulin. Half-life of C-peptide is 30 min, almost 8 times that of insulin.
An individual having different alleles at one or more loci regarding a specific character.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).
Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A characteristic symptom complex.
An adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
An individual in which both alleles at a given locus are identical.
A test to determine the ability of an individual to maintain HOMEOSTASIS of BLOOD GLUCOSE. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

Effect of hyperglycemia-hyperinsulinemia on whole body and regional fatty acid metabolism. (1/1504)

The effects of combined hyperglycemia-hyperinsulinemia on whole body, splanchnic, and leg fatty acid metabolism were determined in five volunteers. Catheters were placed in a femoral artery and vein and a hepatic vein. U-13C-labeled fatty acids were infused, once in the basal state and, on a different occasion, during infusion of dextrose (clamp; arterial glucose 8.8 +/- 0.5 mmol/l). Lipids and heparin were infused together with the dextrose to maintain plasma fatty acid concentrations at basal levels. Fatty acid availability in plasma and fatty acid uptake across the splanchnic region and the leg were similar during the basal and clamp experiments. Dextrose infusion decreased fatty acid oxidation by 51.8% (whole body), 47.4% (splanchnic), and 64.3% (leg). Similarly, the percent fatty acid uptake oxidized decreased at the whole body level (53 to 29%), across the splanchnic region (30 to 13%), and in the leg (48 to 22%) during the clamp. We conclude that, in healthy men, combined hyperglycemia-hyperinsulinemia inhibits fatty acid oxidation to a similar extent at the whole body level, across the leg, and across the splanchnic region, even when fatty acid availability is constant.  (+info)

Relative contribution of insulin and its precursors to fibrinogen and PAI-1 in a large population with different states of glucose tolerance. The Insulin Resistance Atherosclerosis Study (IRAS). (2/1504)

Hyperinsulinemia is associated with the development of coronary heart disease. However, the underlying mechanisms are still poorly understood. Hypercoagulability and impaired fibrinolysis are possible candidates linking hyperinsulinism with atherosclerotic disease, and it has been suggested that proinsulin rather than insulin is the crucial pathophysiological agent. The aim of this study was to investigate the relationship of insulin and its precursors to markers of coagulation and fibrinolysis in a large triethnic population. A strong and independent relationship between plasminogen activator inhibitor-1 (PAI-1) antigen and insulin and its precursors (proinsulin, 32-33 split proinsulin) was found consistently across varying states of glucose tolerance (PAI-1 versus fasting insulin [proinsulin], r=0.38 [r=0.34] in normal glucose tolerance; r=0.42 [r=0.43] in impaired glucose tolerance; and r=0.38 [r=0.26] in type 2 diabetes; all P<0.001). The relationship remained highly significant even after accounting for insulin sensitivity as measured by a frequently sampled intravenous glucose tolerance test. In a stepwise multiple regression model after adjusting for age, sex, ethnicity, and clinic, both insulin and its precursors were significantly associated with PAI-1 levels. The relationship between fibrinogen and insulin and its precursors was significant in the overall population (r=0.20 for insulin and proinsulin; each P<0.001) but showed a more inconsistent pattern in subgroup analysis and after adjustments for demographic and metabolic variables. Stepwise multiple regression analysis showed that proinsulin (split products) but not fasting insulin significantly contributed to fibrinogen levels after adjustment for age, sex, clinic, and ethnicity. Decreased insulin sensitivity was independently associated with higher PAI-1 and fibrinogen levels. In summary, we were able to demonstrate an independent relationship of 2 crucial factors of hemostasis, fibrinogen and PAI-1, to insulin and its precursors. These findings may have important clinical implications in the risk assessment and prevention of macrovascular disease, not only in patients with overt diabetes but also in nondiabetic subjects who are hyperinsulinemic.  (+info)

The contributions of oestrogen and growth factors to increased adrenal androgen secretion in polycystic ovary syndrome. (3/1504)

Adrenal hyperandrogenism is prevalent in many women with polycystic ovary syndrome (PCOS), although the expression of this enhanced secretion may be heterogeneous. Since no single factor acts in isolation, this study was performed to assess the influence of oestradiol (total and unbound), insulin, insulin-like growth factor (IGF)-I, IGF-II and the binding proteins IGFBP-I, and IGFBP-3, on basal and adrenocorticotrophic hormone (ACTH) stimulated adrenal androgen secretion in 25 women with PCOS and 10 matched ovulatory controls. Women with PCOS exhibited elevations of all androgens as well as unbound oestradiol, insulin and non-IGFBP-1 bound IGF-I. Positive correlations were noted between oestrogen and basal and ACTH stimulated delta 5 adrenal androgens. Serum IGF-I was only correlated with basal dehydroepiandrosterone sulphate (DHEA-S), while insulin exhibited a strong correlation with the delta 4 pathway and androstenedione formation in particular. This correlation was also confirmed by dividing the PCOS group into those women with and without hyperinsulinaemia. The activity of 17,20 lyase favouring androstenedione was increased in the hyperinsulinaemic women. By multivariate analyses, body mass index did not influence these findings. Although there are inherent difficulties in making major conclusions based on correlative analyses, it is suggested that oestrogen may have a greater influence on enhancing delta 5 adrenal androgen secretion, and insulin a greater effect on the delta 4 pathway. In turn, the relative importance of these influences may contribute to the heterogeneous nature of adrenal hyperandrogenism in PCOS.  (+info)

Pancreatic exocrine and endocrine function after pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy. (4/1504)

AIM: To evaluate long term detailed pancreatic endocrine and exocrine function in children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) after 85-95% pancreatectomy. METHODS: Six children with PHHI between 0.9 and 12.7 years after pancreatic resection underwent clinical and investigative follow up at 1.0 to 14.9 years of age. One child with PHHI who had not had pancreatectomy was also assessed. Standard endocrine assessment, pancreatic magnetic resonance imaging (MRI), and detailed direct and indirect tests of exocrine pancreatic function were performed. RESULTS: Pancreozymin-secretin stimulation test results were normal in only one child, borderline in two, and deficient in four, one of whom requires daily pancreatic enzyme supplements. Pancreolauryl tests performed in three children were borderline in two and abnormal in the other. Only one child had low faecal chymotrypsin values. One child developed insulin dependent diabetes at 9 years and two children at 1.0 and 13.3 years require diazoxide to maintain normoglycaemia. MRI showed no major regrowth of the pancreatic remnant after resection (n = 5). CONCLUSIONS: Clinical evidence of endocrine or exocrine dysfunction has developed in only two patients to date, but detailed pancreatic function testing suggests subclinical deficiency in all but one of our patients with PHHI. Although 95% pancreatectomy results in postoperative control of blood glucose, subclinical pancreatic insufficiency is present on long term follow up and development of diabetes mellitus and exocrine failure remain ongoing risks.  (+info)

Long-term follow up of persistent hyperinsulinaemic hypoglycaemia of infancy. (5/1504)

Twenty six children with hypoglycaemia were diagnosed and followed between 1975 and 1995. Diagnosis was confirmed by a high insulin:glucose ratio, and low free fatty acid and 3-hydroxybutyrate on fasting. All patients were treated with diazoxide at a maximum dose of 20 mg/kg/day. Requirement of a higher dose was considered as a failure of medical treatment and an indication for surgery. Sixteen children Responded to diazoxide; 10 failed to respond and underwent pancreatic resection. Six of the latter group started with symptoms in the neonatal period. Eleven of the 26 children have neurological sequelae. Head growth and neurological outcome correlated well. Additionally, non-specific electroencephalogram abnormalities (slow waves) appear to be indicative of subclinical hypoglycaemia during follow up.  (+info)

Hyperinsulinism: molecular aetiology of focal disease. (6/1504)

Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.  (+info)

The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells. (7/1504)

ATP-sensitive K+ channels (KATP channels) play important roles in many cellular functions by coupling cell metabolism to electrical activity. The KATP channels in pancreatic beta-cells are thought to be critical in the regulation of glucose-induced and sulfonylurea-induced insulin secretion. Until recently, however, the molecular structure of the KATP channel was not known. Cloning members of the novel inwardly rectifying K+ channel subfamily Kir6.0 (Kir6.1 and Kir6.2) and the sulfonylurea receptors (SUR1 and SUR2) has clarified the molecular structure of KATP channels. The pancreatic beta-cell KATP channel comprises two subunits: a Kir6.2 subunit and an SUR1 subunit. Molecular biological and molecular genetic studies have provided insights into the physiological and pathophysiological roles of the pancreatic beta-cell KATP channel in insulin secretion.  (+info)

Surgery-induced insulin resistance in human patients: relation to glucose transport and utilization. (8/1504)

To investigate the underlying molecular mechanisms for surgery-induced insulin resistance in skeletal muscle, six otherwise healthy patients undergoing total hip replacement were studied before, during, and after surgery. Patients were studied under basal conditions and during physiological hyperinsulinemia (60 microU/ml). Biopsies of vastus lateralis muscle were used to measure GLUT-4 translocation, glucose transport, and glycogen synthase activities. Surgery reduced insulin-stimulated glucose disposal (P < 0.05) without altering the insulin-stimulated increase in glucose oxidation or suppression of endogenous glucose production. Preoperatively, insulin infusion increased plasma membrane GLUT-4 in all six subjects (P < 0.05), whereas insulin-stimulated GLUT-4 translocation only occurred in three patients postoperatively (not significant). Moreover, nonoxidative glucose disposal rates and basal levels of glycogen synthase activities in muscle were reduced postoperatively (P < 0.05). These findings demonstrate that peripheral insulin resistance develops immediately postoperatively and that this condition might be associated with perturbations in insulin-stimulated GLUT-4 translocation as well as nonoxidative glucose disposal, presumably at the level of glycogen synthesis.  (+info)

Symptoms of CHI can include hypoglycemia (low blood sugar), seizures, poor feeding, and rapid breathing. If left untreated, the condition can lead to serious health problems, such as developmental delays, intellectual disability, and an increased risk of stroke or heart disease.

Treatment for CHI typically involves a combination of dietary changes, medications, and surgery. The goal of treatment is to manage hypoglycemia and prevent long-term complications. In some cases, a pancreatectomy (removal of the pancreas) may be necessary.

Early detection and intervention are critical for managing CHI and preventing long-term complications. Newborn screening for CHI is becoming increasingly common, allowing for earlier diagnosis and treatment. With appropriate management, many individuals with CHI can lead normal, healthy lives.

In hyperinsulinism, the body produces too much insulin, leading to a range of symptoms including:

1. Hypoglycemia (low blood sugar): Excessive insulin can cause blood sugar levels to drop too low, leading to hypoglycemic symptoms such as shakiness, dizziness, confusion, and rapid heartbeat.
2. Weight gain: Hyperinsulinism can lead to weight gain due to the body's inability to effectively use glucose for energy production.
3. Fatigue: Excessive insulin can cause fatigue, as the body's cells are not able to effectively use glucose for energy production.
4. Mood changes: Hyperinsulinism can lead to mood changes such as irritability, anxiety, and depression.
5. Polycystic ovary syndrome (PCOS): Women with PCOS are at a higher risk of developing hyperinsulinism due to insulin resistance.
6. Gestational diabetes: Hyperinsulinism can occur during pregnancy, leading to gestational diabetes.
7. Acanthosis nigricans: A condition characterized by dark, velvety patches on the skin, often found in the armpits, neck, and groin area.
8. Cancer: Hyperinsulinism has been linked to an increased risk of certain types of cancer, such as breast, colon, and pancreatic cancer.
9. Cardiovascular disease: Excessive insulin can increase the risk of cardiovascular disease, including high blood pressure, heart disease, and stroke.
10. Cognitive impairment: Hyperinsulinism has been linked to cognitive impairment and an increased risk of dementia.

There are several causes of hyperinsulinism, including:

1. Insulin-producing tumors: Tumors that produce excessive amounts of insulin can lead to hyperinsulinism.
2. Familial hyperinsulinism: A genetic disorder that affects the regulation of insulin secretion and action.
3. Pancreatic beta-cell dysfunction: Dysfunction in the pancreatic beta cells, which produce insulin, can lead to hyperinsulinism.
4. Medications: Certain medications such as steroids and certain psychiatric drugs can cause hyperinsulinism.
5. Pituitary tumors: Tumors in the pituitary gland can lead to excessive secretion of growth hormone, which can stimulate insulin production.
6. Maternal diabetes during pregnancy: Women with diabetes during pregnancy may experience hyperinsulinism due to increased insulin resistance and higher insulin levels.
7. Gestational diabetes: High blood sugar during pregnancy can lead to hyperinsulinism.
8. Polycystic ovary syndrome (PCOS): Women with PCOS may experience hyperinsulinism due to insulin resistance and high insulin levels.
9. Cushing's syndrome: An endocrine disorder caused by excessive cortisol production can lead to hyperinsulinism.
10. Other medical conditions: Certain medical conditions such as thyroid disorders, adrenal gland disorders, and pituitary gland disorders can also cause hyperinsulinism.

It's important to note that some individuals with hyperinsulinism may not experience any symptoms, while others may experience a range of symptoms, including:

1. Weight gain
2. Fatigue
3. Headaches
4. Numbness or tingling in the hands and feet
5. Memory loss and difficulty concentrating
6. Mood changes, such as anxiety and depression
7. Skin problems, such as acne and thinning skin
8. Increased risk of heart disease and stroke
9. Growth retardation in children
10. Increased risk of developing type 2 diabetes

If you suspect that you or your child may have hyperinsulinism, it's important to consult with a healthcare professional for proper diagnosis and treatment. A doctor may perform a physical examination, take a medical history, and order blood tests to determine if hyperinsulinism is present and what may be causing it. Treatment options for hyperinsulinism will depend on the underlying cause of the condition. In some cases, medications such as metformin or other anti-diabetic drugs may be prescribed to help regulate blood sugar levels and reduce insulin production. In other cases, surgery or lifestyle changes may be necessary. With proper diagnosis and treatment, it is possible to manage hyperinsulinism and prevent or manage related health complications.

In extreme cases, hypoglycemia can lead to seizures, loss of consciousness, and even coma. It is important to recognize the symptoms of hypoglycemia early on and seek medical attention if they persist or worsen over time. Treatment typically involves raising blood sugar levels through the consumption of quick-acting carbohydrates such as glucose tablets, fruit juice, or hard candy.

If left untreated, hypoglycemia can have serious consequences, including long-term damage to the brain, heart, and other organs. It is important for individuals with diabetes to monitor their blood sugar levels regularly and work with their healthcare provider to manage their condition effectively.

Causes of Hyperammonemia:

1. Liver disease or failure: The liver is responsible for filtering out ammonia, so if it is not functioning properly, ammonia levels can rise.
2. Urea cycle disorders: These are genetic conditions that affect the body's ability to break down protein and produce urea. As a result, ammonia can build up in the bloodstream.
3. Inborn errors of metabolism: Certain inherited disorders can lead to hyperammonemia by affecting the body's ability to process ammonia.
4. Sepsis: Severe infections can cause inflammation in the body, which can lead to hyperammonemia.
5. Kidney disease or failure: If the kidneys are not functioning properly, they may be unable to remove excess ammonia from the bloodstream, leading to hyperammonemia.

Symptoms of Hyperammonemia:

1. Lethargy and confusion
2. Seizures
3. Coma
4. Vomiting
5. Diarrhea
6. Decreased appetite
7. Weight loss
8. Fatigue
9. Headache
10. Nausea and vomiting

Diagnosis of Hyperammonemia:

1. Blood tests: Measurement of ammonia levels in the blood is the most common method used to diagnose hyperammonemia.
2. Urine tests: Measurement of urea levels in the urine can help determine if the body is able to produce and excrete urea normally.
3. Imaging tests: Imaging tests such as CT or MRI scans may be ordered to look for any underlying liver or kidney damage.
4. Genetic testing: If the cause of hyperammonemia is suspected to be a genetic disorder, genetic testing may be ordered to confirm the diagnosis.

Treatment of Hyperammonemia:

1. Dietary changes: A low-protein diet and avoiding high-aminogram foods can help reduce ammonia production in the body.
2. Medications: Medications such as sodium benzoate, sodium phenylbutyrate, and ribavirin may be used to reduce ammonia production or increase urea production.
3. Dialysis: In severe cases of hyperammonemia, dialysis may be necessary to remove excess ammonia from the blood.
4. Liver transplantation: In cases where the cause of hyperammonemia is liver disease, a liver transplant may be necessary.
5. Nutritional support: Providing adequate nutrition and hydration can help support the body's metabolic processes and prevent complications of hyperammonemia.

Complications of Hyperammonemia:

1. Brain damage: Prolonged elevated ammonia levels in the blood can cause brain damage, leading to cognitive impairment, seizures, and coma.
2. Respiratory failure: Severe hyperammonemia can lead to respiratory failure, which can be life-threatening.
3. Cardiac complications: Hyperammonemia can cause cardiac complications such as arrhythmias and heart failure.
4. Kidney damage: Prolonged elevated ammonia levels in the blood can cause kidney damage and failure.
5. Infections: People with hyperammonemia may be more susceptible to infections due to impaired immune function.

In conclusion, hyperammonemia is a serious condition that can have severe consequences if left untreated. It is essential to identify the underlying cause of hyperammonemia and provide appropriate treatment to prevent complications. Early detection and management of hyperammonemia can improve outcomes and reduce the risk of long-term sequelae.

Insulinoma is a rare type of pancreatic tumor that produces excess insulin, leading to low blood sugar levels. These tumors are typically benign and can be treated with surgery or medication.

Insulinomas account for only about 5% of all pancreatic neuroendocrine tumors. They usually occur in the head of the pancreas and can cause a variety of symptoms, including:

1. Hypoglycemia (low blood sugar): The excess insulin produced by the tumor can cause blood sugar levels to drop too low, leading to symptoms such as shakiness, dizziness, confusion, and rapid heartbeat.
2. Hyperinsulinism (elevated insulin levels): In addition to hypoglycemia, insulinomas can also cause elevated insulin levels in the blood.
3. Abdominal pain: Insulinomas can cause abdominal pain and discomfort.
4. Weight loss: Patients with insulinomas may experience unexplained weight loss.
5. Nausea and vomiting: Some patients may experience nausea and vomiting due to the hypoglycemia or other symptoms caused by the tumor.

Insulinomas are usually diagnosed through a combination of imaging tests such as CT scans, MRI scans, and PET scans, and by measuring insulin and C-peptide levels in the blood. Treatment options for insulinomas include surgery to remove the tumor, medications to control hypoglycemia and hyperinsulinism, and somatostatin analogs to reduce hormone secretion.

Insulinoma is a rare and complex condition that requires careful management by a multidisciplinary team of healthcare professionals, including endocrinologists, surgeons, and radiologists. With appropriate treatment, most patients with insulinomas can experience long-term remission and improved quality of life.

The main features of BWS include:

1. Macroglossia (enlarged tongue): This is the most common feature of BWS, and it can cause difficulty with speaking and breathing.
2. Protruding ears: Children with BWS often have large ears that stick out from their head.
3. Omphalocele: This is a birth defect in which the intestines or other organs protrude through the navel.
4. Hydrocephalus: This is a build-up of fluid in the brain, which can cause increased pressure and enlargement of the head.
5. Polyhydramnios: This is a condition in which there is too much amniotic fluid surrounding the fetus during pregnancy.
6. Imperforate anus: This is a birth defect in which the anus is not properly formed, leading to difficulty with bowel movements.
7. Developmental delays: Children with BWS may experience delays in reaching developmental milestones, such as sitting, standing, and walking.
8. Intellectual disability: Some individuals with BWS may have mild to moderate intellectual disability.
9. Increased risk of cancer: Individuals with BWS have an increased risk of developing certain types of cancer, particularly Wilms tumor (a type of kidney cancer) and hepatoblastoma (a type of liver cancer).

There is no cure for Beckwith-Wiedemann Syndrome, but various treatments can be used to manage the associated symptoms and prevent complications. These may include surgery, physical therapy, speech therapy, and medication. With appropriate medical care and support, individuals with BWS can lead fulfilling lives.

CDGs are caused by mutations in genes that code for enzymes involved in glycosylation, a process that adds sugars to proteins and lipids to form glycoproteins and glycolipids. These molecules play important roles in cell signaling, protein folding, and the immune response. Without proper glycosylation, these molecules cannot function properly, leading to a wide range of symptoms and complications.

Symptoms of CDGs can vary depending on the specific disorder and the organs affected. Common symptoms include developmental delays, intellectual disability, seizures, poor muscle tone, and liver problems. Some children with CDGs may also experience failure to thrive, diarrhea, and vomiting.

There is currently no cure for CDGs, but various treatments are available to manage the symptoms and prevent complications. These may include enzyme replacement therapy, nutritional supplements, and medications to control seizures and other symptoms. In some cases, a bone marrow transplant may be necessary to replace the defective cells with healthy ones.

The diagnosis of CDG is based on a combination of clinical symptoms, laboratory tests, and genetic analysis. Newborn screening is increasingly being used to identify CDGs in infants, allowing for early intervention and treatment.

Overall, congenital disorders of glycosylation are rare and complex conditions that require specialized care and management. With advances in medical technology and research, there is hope for improved treatments and outcomes for individuals with CDGs.

There are several possible causes of hyperandrogenism, including:

1. Congenital adrenal hyperplasia (CAH): A genetic disorder that affects the production of cortisol and aldosterone hormones by the adrenal glands.
2. Polycystic ovary syndrome (PCOS): A hormonal disorder that affects women of reproductive age and is characterized by cysts on the ovaries, irregular menstrual cycles, and high levels of androgens.
3. Adrenal tumors: Tumors in the adrenal glands can cause excessive production of androgens.
4. Familial hyperandrogenism: A rare inherited condition that causes an overproduction of androgens.
5. Obesity: Excess body fat can lead to increased production of androgens.

The symptoms of hyperandrogenism can vary depending on the cause, but may include:

1. Acne
2. Hirsutism (excessive hair growth)
3. Virilization (male-like physical characteristics, such as deepening of the voice and clitoral enlargement in women)
4. Male pattern baldness
5. Increased muscle mass and strength
6. Irregular menstrual cycles or cessation of menstruation
7. Infertility
8. Elevated blood pressure
9. Elevated cholesterol levels

Treatment options for hyperandrogenism depend on the underlying cause, but may include:

1. Medications to reduce androgen production or block their effects
2. Hormone replacement therapy (HRT) to restore normal hormone balance
3. Surgery to remove tumors or cysts
4. Weight loss programs to reduce excess body fat
5. Lifestyle changes, such as exercise and dietary modifications, to improve overall health.

It's important to note that hyperandrogenism can also be caused by other factors, such as congenital adrenal hyperplasia or ovarian tumors, so it's important to consult a healthcare professional for proper diagnosis and treatment.

Example sentences:

1. The patient was diagnosed with a hamartoma on his skin, which was causing a painful lump on his arm.
2. The doctor recommended removing the hamartoma from the patient's pancreas to alleviate her symptoms of abdominal pain and nausea.
3. After undergoing surgery to remove the hamartoma, the patient experienced significant improvement in their quality of life.

Pancreatic adenocarcinoma is the most common type of malignant pancreatic neoplasm and accounts for approximately 85% of all pancreatic cancers. It originates in the glandular tissue of the pancreas and has a poor prognosis, with a five-year survival rate of less than 10%.

Pancreatic neuroendocrine tumors (PNETs) are less common but more treatable than pancreatic adenocarcinoma. These tumors originate in the hormone-producing cells of the pancreas and can produce excess hormones that cause a variety of symptoms, such as diabetes or high blood sugar. PNETs are classified into two main types: functional and non-functional. Functional PNETs produce excess hormones and are more aggressive than non-functional tumors.

Other rare types of pancreatic neoplasms include acinar cell carcinoma, ampullary cancer, and oncocytic pancreatic neuroendocrine tumors. These tumors are less common than pancreatic adenocarcinoma and PNETs but can be equally aggressive and difficult to treat.

The symptoms of pancreatic neoplasms vary depending on the type and location of the tumor, but they often include abdominal pain, weight loss, jaundice, and fatigue. Diagnosis is typically made through a combination of imaging tests such as CT scans, endoscopic ultrasound, and biopsy. Treatment options for pancreatic neoplasms depend on the type and stage of the tumor but may include surgery, chemotherapy, radiation therapy, or a combination of these.

Prognosis for patients with pancreatic neoplasms is generally poor, especially for those with advanced stages of disease. However, early detection and treatment can improve survival rates. Research into the causes and mechanisms of pancreatic neoplasms is ongoing, with a focus on developing new and more effective treatments for these devastating diseases.

The symptoms of hypopituitarism can vary depending on the specific hormone deficiency and can include:

1. Growth hormone deficiency: Short stature, delayed puberty, and decreased muscle mass.
2. Adrenocorticotropic hormone (ACTH) deficiency: Weakness, fatigue, weight loss, and low blood pressure.
3. Thyroid-stimulating hormone (TSH) deficiency: Hypothyroidism, decreased metabolism, dry skin, and constipation.
4. Prolactin deficiency: Lack of milk production in lactating women, erectile dysfunction, and infertility.
5. Vasopressin (ADH) deficiency: Increased thirst and urination.
6. Oxytocin deficiency: Difficulty breastfeeding, low milk supply, and uterine atony.

Hypopituitarism can be caused by a variety of factors such as:

1. Traumatic brain injury or surgery
2. Tumors, cysts, or inflammation in the pituitary gland or hypothalamus
3. Radiation therapy
4. Infections such as meningitis or encephalitis
5. Autoimmune disorders such as hypophyseal lymphocytic infiltration
6. Genetic mutations

Diagnosis of hypopituitarism involves a series of tests to assess the levels of hormones in the blood and urine, as well as imaging studies such as MRI or CT scans to evaluate the pituitary gland. Treatment depends on the specific hormone deficiency and can include hormone replacement therapy, surgery, or radiation therapy. In some cases, hypopituitarism may be a temporary condition that resolves once the underlying cause is treated. However, in other cases, it may be a lifelong condition requiring ongoing management.

In conclusion, hypopituitarism is a rare but potentially debilitating disorder that can affect various aspects of human physiology. It is important to be aware of the signs and symptoms of hypopituitarism and seek medical attention if they persist or worsen over time. With proper diagnosis and treatment, individuals with hypopituitarism can lead relatively normal lives.

There are many different types of seizures, each with its own unique set of symptoms. Some common types of seizures include:

1. Generalized seizures: These seizures affect both sides of the brain and can cause a range of symptoms, including convulsions, loss of consciousness, and muscle stiffness.
2. Focal seizures: These seizures affect only one part of the brain and can cause more specific symptoms, such as weakness or numbness in a limb, or changes in sensation or vision.
3. Tonic-clonic seizures: These seizures are also known as grand mal seizures and can cause convulsions, loss of consciousness, and muscle stiffness.
4. Absence seizures: These seizures are also known as petit mal seizures and can cause a brief loss of consciousness or staring spell.
5. Myoclonic seizures: These seizures can cause sudden, brief muscle jerks or twitches.
6. Atonic seizures: These seizures can cause a sudden loss of muscle tone, which can lead to falls or drops.
7. Lennox-Gastaut syndrome: This is a rare and severe form of epilepsy that can cause multiple types of seizures, including tonic, atonic, and myoclonic seizures.

Seizures can be diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electroencephalography (EEG) or imaging studies. Treatment for seizures usually involves anticonvulsant medications, but in some cases, surgery or other interventions may be necessary.

Overall, seizures are a complex and multifaceted symptom that can have a significant impact on an individual's quality of life. It is important to seek medical attention if you or someone you know is experiencing seizures, as early diagnosis and treatment can help to improve outcomes and reduce the risk of complications.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

... refers to an above normal level of insulin in the blood of a person or animal. Normal insulin secretion and ... Hyperinsulinism can be associated with several types of medical problems, which can be roughly divided into two broad and ... Hyperinsulinism due to reduced insulin sensitivity is usually asymptomatic. In contrast, hyperinsulinemic hypoglycemia can ...
A GIR above 8 mg/kg/minute in infancy suggests hyperinsulinism. A third form of evidence suggesting hyperinsulinism is a rise ... Diffuse hyperinsulinism FHI-KATP FHI-HADH FHI-UCP2 FHI-HNF4A Glucokinase mutation Hyperammonemic hyperinsulinism (glutamate ... Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by ... The cause of congenital hyperinsulinism has been linked to anomalies in nine genes. The diffuse form of this condition is ...
... (HI/HA) is an autosomal dominant disorder that results in the excess production of ... "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...
Ferry, R.J. (2010). Hyperinsulinism "Medscape". "Hyperinsulinemia means that the amount of insulin in the blood is higher than ... It can also occur in congenital hyperinsulinism, including nesidioblastosis. Hyperinsulinemia is associated with hypertension, ... Demirbilek, Hüseyin; Hussain, Khalid (2017-12-30). "Congenital Hyperinsulinism: Diagnosis and Treatment Update". Journal of ... "Congenital hyperinsulinism: current trends in diagnosis and therapy". Orphanet Journal of Rare Diseases. 6: 63. doi:10.1186/ ...
This creates hypoglycemia of varying patterns, including transient or persistent congenital hyperinsulinism, or fasting or ... Glaser B (2013-01-24). "Familial Hyperinsulinism". GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301549. ...
SLC16A1 Hyperinsulinism-hyperammonemia syndrome; 606762; GLUD1 Hyperkalemic periodic paralysis, type 2; 613345; SCN4A ...
Hyperinsulinism Perry, Julian C.; Bourne, Blanche; Lester Henry, W. (January 1957). "Idiopathic Hypoglycemia in Childhood: ...
Conclusions 1. Hyperinsulinism is a condition, perhaps a disease entity, with definite symptoms; i.e. those described as being ... His research on hyperinsulinism and its control brought international recognition to Harris, including the Distinguished ... 1924: "Hyperinsulinism and Dysinsulinism", Journal of the American Medical Association 83(10): 729-33. 1928: The Sugar Fed ... Harris, Seale (1924). "Hyperinsulinism and disinsulinism" (PDF). Journal of the American Medical Association. 83 (10): 729-33. ...
Fournet JC, Junien C (2004). "Genetics of congenital hyperinsulinism". Endocrine Pathology. 15 (3): 233-40. doi:10.1385/EP:15:3 ... SUR2A and SUR2B The SUR1 protein is coded by the ABCC8 gene and is associated with congenital hyperinsulinism and ...
The same signs may be caused by hyperinsulinism not caused by insulinoma. The criteria date back to the 1930s, when a few ... Hyperinsulinism Hypoglycemia Causes of hypoglycemia Melmed, Shlomo (2016). Williams textbook of endocrinology (13 ed.). ... Whipple, Allen O (1938). "The surgical therapy of hyperinsulinism". International Journal of Surgery. 3: 237-276 - via Scopus ...
Nov 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nat Genet. 7 (2): ... 1997). "Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews". Hum. Mol. ... 1999). "Genetic heterogeneity in familial hyperinsulinism". Hum. Mol. Genet. 7 (7): 1119-28. doi:10.1093/hmg/7.7.1119. PMID ... Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. ...
1998). "Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene". N. Engl. ... 2001). "Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate- ... 2000). "Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome ... "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. Mutat. 13 (5): 351-61. doi:10.1002/(SICI)1098- ...
Hyperammonemia/hyperinsulinism (HA/HI) is associated with mild-to-moderate hyperammonemia and with relatively mild, late-onset ... Familial hyperinsulinism, linked to mutations in GLUD1, is characterized by hypoglycemia that ranges from severe neonatal-onset ... Individuals with autosomal recessive familial hyperinsulinism, caused by mutations in either ABCC8 or KCNJ11 (FHI-KATP), tend ... GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism Glutamate+dehydrogenase at the US National Library of Medicine ...
The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism. It is ... GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus ... Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. ... in diabetes mellitus and hyperinsulinism". Hum. Mutat. 27 (3): 220-31. doi:10.1002/humu.20292. PMID 16416420. S2CID 38053792. ...
... due to causes other than hyperinsulinism; in various inborn errors of metabolism, and intentionally induced via a ketogenic ...
September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies ... "Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin ... "Hyperinsulinism in Infancy: From Basic Science to Clinical Disease". Physiological Reviews. 84 (1): 239-275. doi:10.1152/ ... "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C ...
GDM results in maternal hyperglycemia, fetal hyperinsulinism, and fetal overnutrition. DNA methylation can act as the mechanism ...
Hyperinsulinism Too high a level of insulin in the blood. This often involves a condition in which the body produces too much ...
Congenital hyperinsulinism Hyperinsulinemic hypoglycemia Wong's nursing care of infants and children. Hockenberry, Marilyn J ...
... in mouse pancreatic β-cells leads to relative hyperinsulinism during exercise". Diabetes. 61 (7): 1719-25. doi:10.2337/db11- ... Overexpression of MCT1 in pancreatic beta cells leads to hyperinsulinism during exercise. ENSG00000281917 GRCh38: Ensembl ...
Ricquier has demonstrated that mutations in the UCP2 protein induce congenital hyperinsulinism in children at birth. He also ... "Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion". PLOS ONE. 3 (12): e3850. ...
"Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism". The Journal of ...
Mutations that occur in ABCC8 are associated with congential hyperinsulinism and PNDM or TNDM. Patients that have mutations in ...
Due to Diabetogenic Hyperinsulinism: Observations on 131 Patients". Journal of the American Geriatrics Society. 13 (7): 602-38 ...
The first case of hyperinsulinism due to a tumor of this type was reported in 1927. Recognition of a non-insulin-secreting type ...
In the 1920s, after the discovery of insulin and its use in the treatment of diabetics, hyperinsulinism was suspected to be a ... A pioneering description of hyperinsulinism as a cause of hypoglycemia was published by Seale Harris in 1924. The first report ...
Most congenital hyperinsulinism is now known to be caused by different mechanisms than excessive proliferation of beta cells in ... Clancy T, Moore F, Zinner M (2006). "Post-gastric bypass hyperinsulinism with nesidioblastosis: subtotal or total ... Congenital hyperinsulinism Neonatal hypoglycemia Raffel A, Krausch MM, Anlauf M, Wieben D, Braunstein S, Klöppel G, Röher H, ... the term has been revived to describe a form of acquired hyperinsulinism with beta cell hyperplasia found in adults, especially ...
September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies ... September 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies ...
... hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene". European Journal of Human Genetics. 22 (11): 1327-9 ...
Harris' most celebrated accomplishments were his 1924 hypothesis of hyperinsulinism as a cause of spontaneous hypoglycemia. He ...
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone ... Genetic Testing Registry: Hyperinsulinism due to glucokinase deficiency *Genetic Testing Registry: Hyperinsulinism- ... Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a ... Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced ...
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by excess insulin secretion, which results in ... Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. *Dongsheng Guo1,2 ... Yorifuji, T. Congenital hyperinsulinism: current status and future perspectives. Annals of pediatric endocrinology & metabolism ... Guo, D., Liu, H., Ruzi, A. et al. Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated ...
Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by ... Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by ... Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. * ... Salomon-Estebanez, M., Flanagan, S.E., Ellard, S. et al. Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP ...
At the conclusion of this session, participants will understand an overview of hyperinsulinism (HI), the differences between ... "Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia" on September 5, 2019. ...
Introduction by Julie Raskin, followed by host Tony Dokoupil interviewing Dr. David Fajgenbaum.. ...
Join Congenital Hyperinsulinism International during their Sugar Shindig this Saturday, October 8th 2016. This years event ... Join Congenital Hyperinsulinism International for the Sugar Shindig, 10/8. October 4, 2016 ... guidelines for infants and children and the Medical Director and Endowed Chair of the Cook Childrens Hyperinsulinism Center, ...
Hadji-Georgopoulos, A, Schmidt, MI, Margolis, S & Kowarski, AA 1980, Elevated hypoglycemic index and late hyperinsulinism in ... Elevated hypoglycemic index and late hyperinsulinism in symptomatic postprandial hypoglycemia. In: Journal of Clinical ... Elevated hypoglycemic index and late hyperinsulinism in symptomatic postprandial hypoglycemia. Angeliki Hadji-Georgopoulos, ... Dive into the research topics of Elevated hypoglycemic index and late hyperinsulinism in symptomatic postprandial hypoglycemia ...
Congenital Hyperinsulinism and Maple Syrup Urine Disease A Challenging Combination. Azza Al Shidhani1, Abdulhamid Al Hinai2, ... Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease ...
Relationship to fetal hyperinsulinism. Diabetes Care. May 1995. 18(5):611-7. [QxMD MEDLINE Link]. ...
Suspected Hyperinsulinism *HI Diagnostic criteria when glucose < 50 mg/dL *Detectable insulin > 2 mIU/mL *Low beta- ... Hyperinsulinism in the Neonate *Glucose Profiles in Healthy Term Infants in the First 5 Days: The Glucose in Well Babies (GLOW ...
Congenital hyperinsulinism in a newborn presenting with poor feeding. Mazloom K, Sanchez-Lara PA, Langston S, Grand K, ...
Stanley, C.A. Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders. J. Clin. Endocrinol. Metab. ...
... indicating that insulin resistance and hyperinsulinism may have an important role in the pathophysiology of PCOS. Therefore, ... Correlation of hyperandrogenism with hyperinsulinism in polycystic ovarian disease. The Journal of Clinical Endocrinology and ... indicating that insulin resistance and hyperinsulinism may have an important role in the pathophysiology of PCOS. Therefore, ...
The Use of Fluorodopa 18F Positron Emission Tomography Combined with Computed Tomography in Congenital Hyperinsulinism ... An Open-Label Multiple Dose Study of RZ358 in Patients With Congenital Hyperinsulinism ... for the Treatment of Children with Congenital Hyperinsulinism? ... Hyperinsulinism Center Registry for Research and Quality Data ... Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children with Congenital Hyperinsulinism ...
This increased glucose flux between mother and fetus causes fetal hyperinsulinism, which contributes to fetal and neonatal ...
Relationship to fetal hyperinsulinism. Diabetes Care. May 1995. 18(5):611-7. [QxMD MEDLINE Link]. ...
Endogenous hyperinsulinism in adults is almost always due to pancreatic beta-cell tumors or insulinomas, which can occur ... Fasting hypoglycemia in patients with the various forms of hyperinsulinism and in those with tumors secreting insulin-like ... The common denominator of pancreatic beta-cell disorders that produce endogenous hyperinsulinism is the failure to suppress ... Most infants with persistent hyperinsulinism do not have insulinomas or other detectable pathologic lesions. A genetic defect ...
Congenital Hyperinsulinism, Hypoglycemic Agents, Technological Development, Biomedical Technology, Public Health Laboratory ... Congenital Hyperinsulinism, Meningitis, Brain Injury, Chronic, Echocardiography, Persistent Fetal Circulation Syndrome, ...
... while estrogens may create a state of hyperinsulinism.14-18 Oral contraceptives have been shown to increase blood pressure ...
Congenital hyperinsulinism. Dillon, Patrick A. Curr Opin Pediatr ; 25(3): 357-61, 2013 Jun. ...
Dive into the research topics of Laparoscopic greater curvature plication in morbidly obese women with type 2 diabetes: effects on glucose homeostasis, postprandial triglyceridemia and selected gut hormones. Together they form a unique fingerprint. ...
Congenital hyperinsulinism (CHI) is a condition where the bodys pancreas produces too much insulin - rather than too little as ... The study was led by the University of Manchester and carried out at the two referral centres for hyperinsulinism in the UK, ... The clinical and academic teams work closely together within NorCHI (Northern Congenital Hyperinsulinism in Infancy service) to ...
Diabetes must be treated vigorously and a balanced diet is of utmost importance to prevent hyperinsulinism, which can cause ...
Silverman BL, Landsberg L, Metzger BE: Fetal hyperinsulinism in offspring of diabetic mothers: association with the subsequent ...
Familial Hyperinsulinism (ABCC8-Related). *Familial Mediterranean Fever. *Fanconi Anemia Group C. *GRACILE Syndrome ...
  • Hyperinsulinism (HI) is the most common cause of severe, persistent hypoglycemia in infants and children. (medscape.com)
  • Conversely, hypoglycemia associated with ketonuria makes hyperinsulinism less likely. (medscape.com)
  • Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating. (medlineplus.gov)
  • A lack of glucose in the blood results in frequent states of hypoglycemia in people with congenital hyperinsulinism. (medlineplus.gov)
  • Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by excess insulin secretion, which results in hypoglycemia. (nature.com)
  • Hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. (nih.gov)
  • This seminar focuses on endocrinology and was delivered at Children's Hospital of Philadelphia during a live event titled, "Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia" on September 5, 2019. (chop.edu)
  • Congenital hyperinsulinism due to mutations in the KATP channel (KATPHI) is characterized by severe hypoglycemia unresponsive to available medical therapy. (nih.gov)
  • Our preliminary data demonstrate that exendin-(9-39) inhibits insulin secretion and corrects fasting hypoglycemia in a mouse model of congenital hyperinsulinism (SUR-1−/− mice). (nih.gov)
  • Furthermore, the outcomes of this translational research project may have implications for treatment of other forms of hyperinsulinism and other forms of hypoglycemia in which GLP-1 may play a role, including post-prandial hypoglycemia after Nissen fundoplication and gastric bypass surgery. (nih.gov)
  • Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease , in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. (bvsalud.org)
  • During the Sugar Shindig program, lead author of the recently published hypoglycemia guidelines for infants and children and the Medical Director and Endowed Chair of the Cook Children's Hyperinsulinism Center, Dr. Paul Thornton (below right) will speak on the importance of adopting guidelines for the management and evaluation of prolonged hypoglycemia. (globalgenes.org)
  • Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. (jcrpe.org)
  • Spontaneous hypoglycemia due to hyperinsulinism in a child. (nih.gov)
  • Hypoglycemia secondary to hyperinsulinism and hypertrophic cardiomyopathy is a less frequent feature [ 9 , 10 ]. (hindawi.com)
  • problems, low blood glucose (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). (nih.gov)
  • Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. (medlineplus.gov)
  • Join Congenital Hyperinsulinism International during their Sugar Shindig this Saturday, October 8th 2016. (globalgenes.org)
  • The Fund's aim is to raise funds for research into Congenital Hyperinsulinism (CHI), also previously known as Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI) and as Nesidioblastosis. (gosh.nhs.uk)
  • Congenital Hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy due to excessive, dysregulated insulin secretion. (biomedcentral.com)
  • 14. [Congenital hyperinsulinism of infancy: surgical treatment in 60 cases of focal form]. (nih.gov)
  • An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM . (nih.gov)
  • Congenital hyperinsulinism (CHI) refers to a group of rare genetic disorders that are characterized by excess insulin secretion by pancreatic β-cells. (nature.com)
  • Gene mutations that cause congenital hyperinsulinism lead to over-secretion of insulin from beta cells. (medlineplus.gov)
  • Mutations in at least nine genes have been found to cause congenital hyperinsulinism. (medlineplus.gov)
  • Less frequently, mutations in the KCNJ11 gene have been found in people with congenital hyperinsulinism. (medlineplus.gov)
  • Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. (biomedcentral.com)
  • Mutations in the KATP channel genes, ABCC8 and KCNJ11 , are the most common cause of congenital hyperinsulinism. (bioscientifica.com)
  • Four types of congenital hyperinsulinism are known, caused by different genetic mutations. (nih.gov)
  • Although congenital hyperinsulinism due to mutations in the KATP channel is a rare disease affecting approximately 1:20,000 to 1:50,000 children in this country, this devastating disease and its current treatment (near-total pancreatectomy) are associated with severe, life-threatening complications that could be prevented with effective medical therapy. (nih.gov)
  • Currently, there is no effective medical therapy for subjects with congenital hyperinsulinism due to mutations in the KATP channel. (nih.gov)
  • Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene . (bvsalud.org)
  • Activating mutations in this gene are a common cause of congenital hyperinsulinism. (nih.gov)
  • The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin. (medlineplus.gov)
  • The inheritance of the focal form of congenital hyperinsulinism is more complex. (medlineplus.gov)
  • At the conclusion of this session, participants will understand an overview of hyperinsulinism (HI), the differences between diffuse and focal HI, and learn potential surgical interventions and outcomes relating to these diseases. (chop.edu)
  • A case of hyperinsulinism without demonstrable pancreatic changes in an 11-year-old child. (nih.gov)
  • 49]. Two overnight fasts performed preoperatively and 8 performed postoperatively during the period from 1966 to 1989 confirmed continuing hyperinsulinism causing fasting hypoglycaemia, the need for continuing postoperative therapy, and the ongoing effectiveness of diazoxide and trichlormethiazide. (elsevier.com)
  • Hyperinsulinism and associated hypoglycaemia have remained well controlled with these agents. (elsevier.com)
  • 8. Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon. (nih.gov)
  • This paper reports the case of a 79-year-old woman who has been treated for 25 years with diazoxide and trichlormethiazide for continuing hyperinsulinism after an unsuccessful operation for a probable insulinoma. (elsevier.com)
  • Higher birth weight, diazoxide unresponsiveness and diagnosis in the first week of life were independently associated with KATP-hyperinsulinism (adjusted odds ratio: 4.5 (95% CI: 3.4-5.9), 0.09 (0.06-0.13) and 3.3 (2.0-5.0) respectively). (bioscientifica.com)
  • Birth weight and diazoxide unresponsiveness were additive and highly discriminatory for identifying KATP-hyperinsulinism (ROC area under the curve for birth weight 0.80, diazoxide responsiveness 0.77, and together 0.88, 95% CI: 0.85-0.90). (bioscientifica.com)
  • In this study, 86% born large for gestation and 78% born appropriate for gestation and who did not respond to diazoxide treatment had KATP-hyperinsulinism. (bioscientifica.com)
  • In contrast, of those individuals born small for gestation, none who were diazoxide responsive and only 4% of those who were diazoxide unresponsive had KATP-hyperinsulinism. (bioscientifica.com)
  • Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. (bioscientifica.com)
  • These researchers are working on a drug to treat one type of congenital hyperinsulinism that does not respond to any current medication and is typically treated by near-total removal of the infant's pancreas. (nih.gov)
  • The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. (bioscientifica.com)
  • We aimed to determine the clinical features that help to identify KATP-hyperinsulinism at diagnosis. (bioscientifica.com)
  • Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment. (bvsalud.org)
  • 1. Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy. (nih.gov)
  • However, in people with congenital hyperinsulinism, insulin is secreted from beta cells regardless of the amount of glucose present in the blood. (medlineplus.gov)
  • The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. (medlineplus.gov)
  • This treatment can be used effectively and safely for prolonged periods without loss of efficacy and without significant side effects in individuals with persistent hyperinsulinism as a result of benign insulinoma. (elsevier.com)
  • Our long-term objective is to develop exendin-(9-39) as a new therapy for the treatment of congenital hyperinsulinism. (nih.gov)
  • A Randomized Trial in 2 parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children with Congenital Hyperinsulinism? (cookchildrens.org)
  • PCOS manifests as defective ovarian steroid biosynthesis and hyperandrogenemia, and 50-70% of women with PCOS exhibit insulin resistance and are hyperinsulinemic, indicating that insulin resistance and hyperinsulinism may have an important role in the pathophysiology of PCOS. (intechopen.com)
  • We studied 761 individuals with KATP-hyperinsulinism and 862 probands with hyperinsulinism of unknown aetiology diagnosed before 6 months of age. (bioscientifica.com)
  • The Congenital Hyperinsulinism Center at the Children's Hospital of Philadelphia is working on a research study to better understand how people with hyperinsulinism may have different blood sugar responses to certain tests (like fasting or drinking a high-protein shake) when compared to people without hyperinsulinism. (chop.edu)
  • An elevated hypoglycemic index is associated with symptoms and reflects late hyperinsulinism. (johnshopkins.edu)
  • E ditor -We enjoyed the article on practical management of hyperinsulinism by Aynsley-Green et al . (bmj.com)
  • We compared the clinical features of KATP-hyperinsulinism and unknown hyperinsulinism cases. (bioscientifica.com)
  • Congenital hyperinsulinism is a rare, inherited disease affecting about 1 in 25,000 to 1 in 50,000 infants. (nih.gov)
  • The Children's Hyperinsulinism Fund helps children in the UK and around the world who suffer from Congenital Hyperinsulinism. (gosh.nhs.uk)
  • The Children's Hyperinsulinism Fund is a Fund within the Special Trustees Charity of Great Ormond Street Hospital for Children. (gosh.nhs.uk)
  • Giving monthly by direct debit will help to provide children with Congenital Hyperinsulinism with the best care and enable us to do further research to find new treatments. (gosh.nhs.uk)
  • The Fund was set up to carry out research in Congenital Hyperinsulinism. (gosh.nhs.uk)