Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with Prader-Willi syndrome (PWS) complicated by diabetes mellitus. PWS is a genetic disorder characterized by obesity, mental retardation and hypogonadism. Glucose intolerance in this syndrome is thought to be secondary to insulin resistance associated with morbid obesity. Therapy was directed primarily at decreasing insulin resistance and thereby improving glucose intolerance by the administration of troglitazone, which increases insulin sensitivity. Changes in glucose disposal rate assessed by euglycemic hyperinsulinemic clamp test were measured, as well as glucose and insulin responses to a 75 g-OGTT before and after troglitazone therapy. Glucose disposal rate increased by 36% and plasma glucose responses to 75 g-OGTT decreased by about 50% during 12 weeks of troglitazone therapy despite slight weight gain. Thus, troglitazone has beneficial effects on glycemic control by improving insulin sensitivity in patients with PWS complicated by diabetes mellitus.
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PMID:Troglitazone ameliorates insulin resistance in a diabetic patient with Prader-Willi syndrome. 992 52

A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe inflammation of the left limb with necrosis of the last toe (the sixth) of the left foot. Four brothers and sisters of the patient presented the same syndrome. The patient had had healthy offsprings. The review of current literature indicates that BBS is a genetic autosomal recessive disease, formerly grouped with Laurence-Moon-Biedl syndrome but today considered as a separate entity. It is characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism in males, and renal structural abnormalities or functional impairment. Extra- and intrafamilial variability of expressivity and severity of the various clinical manifestations was reported, among affected families and also in the same family. BBS is a rare but important syndrome, that should be known by the endocrinologist and the specialist in internal medicine, because it has an adverse prognosis, with early onset of blindness, insulin-resistant diabetes mellitus and severe renal impairment. Renal failure is a frequent cause of death early in life, even in the infant-juvenile years.
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PMID:[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]. 1006 26

Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis and growth retardation occur at a later age. Other frequent multisystemic manifestations include hepatic and renal dysfunction, mental retardation and cardiovascular abnormalities. On the basis of two consanguineous families, we mapped WRS to a region of less than 3 cM on chromosome 2p12, with maximal evidence of linkage and homozygosity at 4 microsatellite markers within an interval of approximately 1 cM. The gene encoding the eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3) resides in this interval; thus we explored it as a candidate. We identified distinct mutations of EIF2AK3 that segregated with the disorder in each of the families. The first mutation produces a truncated protein in which the entire catalytic domain is missing. The other changes an amino acid, located in the catalytic domain of the protein, that is highly conserved among kinases from the same subfamily. Our results provide evidence for the role of EIF2AK3 in WRS. The identification of this gene may provide insight into the understanding of the more common forms of diabetes and other pathologic manifestations of WRS.
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PMID:EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. 1093 83

Alstrom syndrome is a rare autosomal recessive disease; less than 60 cases have been reported. No Chinese patient with this disease has been reported previously in the literature. Here, we describe an 11-year-old Chinese boy with this condition. His elder sister also had Alstrom syndrome, and his father had non-insulin-dependent diabetes mellitus. Both siblings had degenerative retinopathy, obesity, mental retardation, perceptive hearing loss, short stature, non-insulin-dependent diabetes mellitus, nephropathy, hyperlipidemia, acanthosis nigricans, and hepatic dysfunction. The boy also developed acute lymphoblastic leukemia, which was confirmed by cytochemistry and immunophenotyping findings. He received chemotherapy and radiotherapy for the malignancy. The present case suggests that acute lymphoblastic leukemia may be coincident with or may be a previously undescribed systemic manifestation of Alstrom syndrome.
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PMID:Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. 1106 Oct 78

Hyperosmolar coma which is characterized by severe hyperglycemia in absence of chetosis is very rare in pediatric age with only 11 cases reported in the literature. The outcome of the condition is usually poor with mental retardation being the most common event. Here a case of hyperosmolar coma is described in a female of three months of age who was treated with peritoneal dialysis 11 hours after admittance to hospital. This female patient has been receiving insulin from three months of age and today at the age of 10 years she leads a normal life despite being on insulin therapy. A very low level of C-peptide (<0.3 ng/ml) clearly confirms she is affected by Type 1 diabetes. To our knowledge this is the first case report of hyperosmolar coma in a neonate with Type 1 diabetes who survived this condition without late neurological consequences.
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PMID:Peritoneal dialysis in an infant with type 1 diabetes and hyperosmolar coma. 1126 66

Profound hypothermia (core temperature of less than 28 degrees C) is a life threatening state and a medical emergency associated with a high mortality rate. The prognosis depends on underlying diseases, advanced or very early age, the duration prior to treatment, the degree of hemodynamic deterioration, and especially, the methods of treatment, including active external or internal rewarming. This is a case study of an 80-year-old female patient with severe accidental hypothermia (core temperature 27 degrees C). She was found in her home lying immobile on the cold floor after a fall. The patient was in a profound coma with cardiocirculatory collapse, and the medical staff treating her was inclined to pronounce her deceased. On her arrival at the hospital, she was resuscitated, put on a respirator and actively warmed. Very severe metabolic disorders were found, including a marked metabolic acidosis composed of diabetic ketoacidosis (she had suffered from insulin treated type 2 diabetes mellitus) and lactic acidosis with a very high anion gap (42) and a hyperosmotic state (blood glucose 1202 mg/dl). There were pathognomonic electrocardiographic abnormalities, J-wave of Osborn and prolonged repolarization. Slow atrial fibrillation with a ventricular response of 30 bpm followed by a nodal rhythm of 12 bpm and reversible cardiac arrest were recorded. The pulse and blood pressure were unobtainable. Despite the successful resuscitation and hemodynamic and cognitive improvement, rhabdomyolysis (CKP 6580 u/L), renal failure and hepatic damage developed. She was extubated and treated with intravenous fluids containing dopamine, bicarbonate, insulin and antibiotics. Her medical condition gradually improved, and she was discharged clear minded, functioning very well and independent. Renal and liver tests returned eventually to normal limits. Progressive bradycardia, hypotension and death due to ventricular fibrillation or asystole commonly occur during severe hypothermia. Respiratory and metabolic, sometimes lactic, acidosis, lethargy and coma, hypercoagulopathy, hyperosmolar state, acute pancreatitis and renal and hepatic failure are frequent complications of hypothermia. Underlying predisposing causes of hypothermia are diabetic ketoacidosis, cerebrovascular disease, mental retardation, hypothyroidism, pituitary and adrenal insufficiency, malnutrition, acute alcoholism, liver damage, hypoglycemia, sepsis, hypothalamic dysfunction, sepsis and polypharmacy, and especially, the use of sedative and narcotic drugs. Our case demonstrates once again that CPR once begun should continue until the successful rewarming because "no one is dead until warm and dead".
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PMID:[Severe accidental hypothermia in an elderly woman]. 1175 73

Hyperinsulinism is a rare cause of severe persistent hypoglycaemia in the neonatal period. It is associated with a high incidence of brain damage and mental retardation as a consequence of repeated episodes of hypoglycaemia. Subtotal to near total pancreatectomy is indicated as a matter of urgency to decrease the amount of circulating insulin. The perioperative management of a 45-day-old, 5 kg male infant with hyperinsulinaemia (nesidioblastosis) is described. He had a history of generalized tonic clonic seizures 4 h after birth. The blood sugar at that time was 0.66 mmol x l(-1) (12 mg x dl(-1)) and serum calcium was 2.4 mmol x l(-1) (9.82 mg x dl(-1)). The insulin : glucose ratio was 1.6 (normal < 0.4). Occasional episodes of hypoglycaemia persisted in spite of medical line of management with intravenous dextrose 12%, 2 h gastric tube feeds, hydrocortisone (5 mg x kg(-1) x day(-1) i.v.) and oral diazoxide 10 mg x kg(-1), 8 h for 3 weeks. A CT scan and USG did not reveal any abnormality of the pancreas. However, the EEG varied from one of abnormally low amplitude to an isoelectric record. Renal, liver function tests and coagulation profile were normal. The patient was scheduled for elective subtotal pancreatectomy. The anaesthetic management with emphasis on glucose homeostasis and fluid balance is discussed.
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PMID:Anaesthetic management of a case of nesidioblastosis for subtotal pancreatectomy. 1184 82

A reduced expression of the insulin resistance syndrome, a common neuroendocrine disorder underlying atherosclerosis, may play a role in reduced atherosclerosis in adults with Down syndrome. We compared selected components of the insulin resistance syndrome between 75 adults with Down syndrome and 70 with mental retardation due to other causes. After adjusting for age differences, residence, cigarette smoking, and medication use, women with Down syndrome had lower fasting plasma glucose and lower systolic blood pressure than comparison women. Men with Down syndrome had lower systolic and diastolic blood pressure than comparison men. Results suggest that women with Down syndrome may be less likely to express the insulin resistance syndrome, and men and women with Down syndrome may possess fewer atherosclerotic risk factors than the comparison groups.
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PMID:Differences in cardiovascular disease risk between nondiabetic adults with mental retardation with and without Down syndrome. 1196 33

Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).
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PMID:A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. 1212 Apr 19

The association between physical activity, dietary behaviors, and elevated cardiovascular disease risk factor components of the insulin resistance syndrome in adults with mental retardation was identified. Established clinical cutoff points were used to identify 145 participants with mild mental retardation and hyperinsulinemia, borderline high triglycerides, low high-density lipoprotein cholesterol, hypertension, and abdominal obesity. Odds ratios were calculated from logistic regression analysis. Those who participated in more frequent bouts of physical activity or who consumed lower dietary fat intakes were approximately one third as likely to have hyperinsulinemia and abdominal obesity compared to those who participated in less frequent physical activity or who consumed higher fat intakes, suggesting that these behaviors are protective against elevated components of the insulin resistance syndrome.
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PMID:Physical activity, dietary intake, and the insulin resistance syndrome in nondiabetic adults with mental retardation. 1218 77


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