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

Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism.
 ...
PMID:X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. 0 50

A newborn infant with severe hypoglycaemia and nesidioblastosis was subjected to subtotal pancreatectomy without any sign of improvement. In spite of very low plasma levels of glucose (i.e. less than 1 mmol/l) plasma insulin concentrations were high (i.e. greater than 700 pmol/l). Plasma proinsulin was considerably enhanced comprising 43% of the total insulin immunoreactivity. Plasma glucagon concentrations were normal. Postoperatively normal to subnormal plasma glucose levels could only be maintained by treatment with frequent meals, diazoxide and intramuscular injections of a long-acting glucagon preparation. With time, signs of mental retardation became obvious.
 ...
PMID:Elevated serum proinsulin in beta cell nesidioblastosis. Report of a case in a newborn. 22 88

Despite a greater awareness of hyperinsulinaemic hypoglycaemia, one in three patients has some degree of mental retardation by the time the diagnosis is made. The diagnosis is established by demonstrating high plasma insulin concentrations during an episode of hypoglycaemia. Twenty one hyperinsulinaemic infants and children were referred for surgical treatment after failing to respond to medical management. The surgical procedure of choice is a 95% pancreatectomy. Recurrence of the hypoglycaemia may develop after less radical resections as occurred in one patient who then underwent an extended resection 72 hours postoperatively. Patients who fail to respond to optimal medical treatment should be referred for surgery early and not as a last resort if permanent neurological damage is to be avoided.
 ...
PMID:Surgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood. 151 69

Two new cases of diffuse hyperplasia of the pancreas are reported. This infrequent condition is caused by intermittent and variable insulin hypersecretion. The hyperinsulinism is responsible for severe, lasting and intractable hypoglycemia that causes seizures and mental retardation. Onset usually occurs in the neonatal period. The diagnosis of hyperinsulinism rests on four criteria: the presence of increased insulin levels in the face of hypoglycemia, the low urinary excretion of ketone bodies during hypoglycemic episodes, the need for more than 15/mg/kg/min glucose to maintain the serum glucose level above 2 mmol/l, and a positive response to glucagon. The topographic diagnosis is often disappointing. Medical treatment of the hypoglycemia with diazoxide is a transient measure. Subtotal pancreatectomy is indispensable. Postoperative results are variable. Insulin deficiency diabetes mellitus is common and unusual in that insulin induces an exaggerated response. Recovery can be observed. If hypoglycemia recurs, diazoxide is often effective.
 ...
PMID:[Nesidioblastosis. Apropos of 12 new cases]. 229 91

Children with Prader-Willi syndrome (PWS) are characterized by obesity, hyperphagia, hypogonadism, and mental retardation with underlying hypothalamic dysfunction and are known to have blunted or absent pancreatic polypeptide (PP) secretion in response to protein meals. In this communication, adults (26 +/- 3 years of age) with PWS were compared with age-matched normal obese and normal weight controls in regards to plasma glucose, insulin, PP, cholecystokinin (CCK), cholesterol, and triglyceride after a high protein meal. Compared with normal weight controls, adults with PWS showed a smaller and delayed rise in plasma insulin, and relatively smaller and delayed PP elevation whereas obese controls revealed hyperglycemia, markedly higher insulin, and moderately higher PP, cholesterol, and triglyceride levels than those with PWS. There was a small increment of CCK levels after a protein meal in all groups of adults. After a protein meal, the molar ratio of PP to CCK doubled in normal weight and PWS groups, and this ratio tripled in the normal obese group, suggesting no reduced PP secretion in PWS in response to CCK stimulation. PP hyposecretion in PWS thus appears to be a part of multiple endocrinopathy associated with hypothalamic dysfunction.
 ...
PMID:Protein meal-stimulated pancreatic polypeptide secretion in Prader-Willi syndrome of adults. 266 31

The cause of autism is unknown. Recently, it has been suggested that it involves metabolic disorders of serotonin and/or dopamine. On the other hand, there is a close relationship between hormone secretion and monoamines. The aim of this study was to analyze the secretion of GH, PRL, TSH, cortisol, LH and FSH. The subjects were 30 children with autism, 25 males and 5 females, aged from 1 10/12 to 9 10/12 years. Their IQs (DQs) ranged from 34 to 123. Pituitary hormone secretion was measured during provocation with insulin (0.1 unit/kg), TRH (10 micrograms/kg) and/or LH-RH (100 micrograms/m2) in 26 of 30 cases. Control subjects included 16 age-matched children with attention deficit disorder (ADD) and 18 age-matched children with mental retardation (MR) without autistic and organic central nervous diseases. The 24-hour secretion rhythm of GH, PRL and cortisol for 14 cases with autism and of LH and FSH for 9 cases was also investigated. In insulin provocation test, the peak values of GH and delta GH (peak GH level minus baseline GH level) in ADD were significantly higher than those in MR (p less than 0.05). In TRH provocation test, the peak values of TSH and delta TSH in autism were significantly lower than those in MR. Five cases of autistic children revealed borderline responses for TSH, while the only one each of ADDs and MRs revealed borderline responses for TSH. In a study of the 24-hour hormone secretion rhythm, eleven of the 14 autistic children showed an abnormal secretion rhythm.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Neuroendocrinologic studies on autism]. 271 59

We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary retinopathy and insulin-dependent diabetes mellitus. The 16-year-old sister, who died in a diabetic coma during the course of the investigation, had polydactyly, hypogenitalism, obesity, mental retardation, and pigmentary retinopathy. The 8-year-old brother had all the features of the syndrome, but no overt diabetes mellitus. Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism.
 ...
PMID:A family with the Bardet-Biedl syndrome and diabetes mellitus. 273 Apr 6

Severe neonatal hypoglycemia due to nesidioblastosis demands prompt diagnosis and treatment to prevent mental retardation. Early central venous catheter placement is essential for a constant glucose infusion. At surgery, near-total (95%) pancreatectomy is done, starting at the tail and preserving the spleen. Bipolar electrocoagulation is very useful for the tiny vessels. The uncinate process is removed leaving a small amount of pancreas adjacent to the preserved common bile duct. Three patients, diagnosed shortly after birth, had surgery at 34 days, 2 years, and 17 days of life. Two patients developed staphylococcal infections, one of whom exhibited the "scalded baby" syndrome and required reoperation for evisceration. Insulin was required for one to seven days in two and for three months in one. Diazoxide was needed for 18 months in the initial patient, who did not have uncinate resection. All patients are healthy and off medication with a postoperative follow-up period of 11, 12, and 65 months.
 ...
PMID:The surgical management of hyperinsulinism in infancy due to nesidioblastosis. 283 63

Hypoglycemia of infancy and childhood represents a treatable cause of mental retardation and seizures. Most neonates with hypoglycemia have transient disorders, but with persistent hypoglycemia one must consider hyperinsulinism, hypopituitarism, or hereditary hepatic enzyme deficiencies. Outside of the neonatal period, ketotic hypoglycemia is the most common cause of hypoglycemia in childhood. One cannot overemphasize the value of obtaining certain diagnostic tests at the presentation of spontaneous hypoglycemia, including blood for insulin, cortisol, growth hormone, and urine for ketone bodies. Supportive treatment with intravenous glucose to maintain the blood glucose greater than 50 mg/dl is important until a diagnosis is established allowing specific therapy aimed at the underlying disorder.
 ...
PMID:Hypoglycemia of infancy and childhood. 330 1

Persistent, severe hypoglycemia due to inappropriate or excessive insulin secretion is an infrequent but devastating metabolic emergency in infancy and childhood. The primary therapeutic goal is to normalize blood glucose levels and to prevent the catastrophic sequelae of permanent brain damage and mental retardation due to refractory hypoglycemia. Overall, the use of diazoxide, the mainstay of medical treatment, has proved disappointing and has led to the reevaluation of aggressive, early surgical intervention. Currently, subtotal (80% to 90%) pancreatectomy is the most widely used operative procedure in the treatment of hyperinsulinism. It is, however, still associated with a relatively high failure rate, particularly in neonates or during early infancy when either nesidioblastosis or islet cell hyperplasia-both diffuse proliferative beta-cell disorders-is the most common cause of inappropriate insulin secretion. In these cases, "total" or "near-total" pancreatectomy may be necessary to control the hypoglycemic crisis.
 ...
PMID:Hypoglycemic syndrome in infancy and childhood. A surgeon's perspective. 359 Jul 59


1 2 3 4 5 6 7 8 Next >>