Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Reports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years. Adults in our study had progressive multisystem medical problems. Cardiovascular complications were common (12/13) including hypertension (8), supravalvular aortic stenosis (9), aortic hypoplasia (3), pulmonic artery stenosis (4), peripheral stenoses (3), and mitral valve prolapse (2). Joint limitation (12/13) was progressive, often accompanied by kyphoscoliosis and lordosis. Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and bladder diverticula and vesicoureteral reflux in 3. Gastrointestinal problems included obesity (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4). Hypercalcemia was documented in 5 patients, although others had hypercalcemic symptoms (abdominal pain, polyuria, and constipation). One 45-year-old man had parathyroid hyperplasia. Previous reports likewise document significant morbidity. Thus, Williams syndrome in an adult appears to dictate aggressive evaluation and monitoring. Investigation of calcium metabolism should be undertaken in each adult WS patient.
 ...
PMID:Adults with Williams syndrome. 189 83

The etiology of the alterations in calcitonin (CT) secretion and plasma calcium of genetically obese (fa/fa) rats is unknown. In this study, we tested the postulate that there is an early occurrence of abnormalities in CT biosynthesis by thyroid glands of these rodents. Male genetically obese Zucker (fa/fa) rats and their lean littermates were therefore studied from 30 days to 10 months of age. Obese animals were characterized by hypercalcemia (delta approximately equal to 1 mg/dl), already present at 30 days of age. Increased thyroidal CT stores began at 6 weeks of age in fatty rats. Plasma CT levels were decreased in obese animals from 30 days to 10 weeks of age and were not different in leans and fatties 2 weeks later, but were higher at 10 months in fatty rats. Poly A + RNA were extracted from thyroid glands and subjected to translation assays. After SDS-PAGE, specific immunoprecipitates were autoradiographed and quantified by integration. A similar translation product with an apparent mol wt of 15,000 was specifically immunoprecipitated with CT antisera in obese (fa/fa) and lean Zucker rats at different ages. In 30-day-old fatty rats, a 50% decrease in translatable CT mRNA was observed in association with decreased plasma CT levels. In 12-week-old fatty rats, the translatable CT mRNA activity was unchanged or higher when compared to lean littermates, and clearly higher in 10-month-old fatty rats. The CT mRNA levels measured by dot-blot or northern blot hybridization paralleled at each stage studied the CT mRNA activity, determined by translation. It was concluded that in basal conditions, plasma CT level variations during development reflect the biosynthetic activity of C cells in genetically obese rats. The data presented in this study strengthen the point of an early occurrence of abnormalities in CT mRNA activity and in plasma calcium of fa/fa rats.
 ...
PMID:Calcitonin mRNA activity in genetically obese rats. 379 Jul 14

In order to investigate mineral and vitamin D metabolism in obese rats with hyperinsulinemia, plasma calcium and vitamin D metabolites were measured in Zucker fa/fa rats. Body weight, plasma insulin, and calcium in fa/fa rats were significantly increased compared to their lean littermates (p less than 0.01). However, no significant difference in plasma 25-hydroxyvitamin D (25(OH)D), 24,25-dihydroxyvitamin D, 1,25-dihydroxyvitamin D (1,25(OH)2D) or the ratio of 1,25(OH)2D to 25(OH)D was observed between fa/fa rats and their lean littermates. The hypercalcemia in the rats with hyperinsulinemia, therefore, might be caused by other calcium-regulating hormones or some factors other than 1,25(OH)2D. In addition, the hyperinsulinemia associated with obesity may not produce the accelerated conversion from 25(OH)D into 1,25(OH)2D.
 ...
PMID:The role of vitamin D metabolites in hypercalcemia of Zucker fa/fa rats. 387 38

Seventy six children with documented Fanconi-type idiopathic infantile hypercalcaemia were studied and compared with 41 with the Williams-Beuren syndrome. Clinical comparison showed, as expected, very close similarities but also considerable differences, particularly in the severity of feeding problems and the degree of failure to thrive. The estimated incidence of idiopathic infantile hypercalcaemia alone has remained constant for the past 20 years, at approximately 18 cases per year in the United Kingdom (1 per 47 000 total live births). Long term morbidity in these children is mainly due to mental handicap and arteriopathy, but hypertension (29%), kyphoscoliosis (19%), hyperacusis (75%), and obesity (50%) may be added complications. In one child, hypercalcaemia recurred during adolescence but this seems to be excessively rare. More detailed investigation before treatment is required to discover the aetiology of hypercalcaemia in this condition.
 ...
PMID:Idiopathic infantile hypercalcaemia--a continuing enigma. 646 28

Most patients with hypertension in the United States have essential (primary) hypertension (95%), the cause of which is unknown. The remaining 5% of adults with hypertension have the secondary form of hypertension, the cause and pathophysiologic process of which are known. Internists and other primary care physicians refer to this as treatable or curable hypertension, because the hypertension can be managed or even controlled with medications. Similarly, the condition is called surgical hypertension by surgeons in the belief that once the cause is determined and identified, surgical intervention will result in cure of hypertension. Secondary causes of hypertension include renal parenchymal disease, renovascular diseases, coarctation of the aorta, Cushing's syndrome, primary hyperaldosteronism, pheochromocytoma, hyperthyroidism, and hyperparathyroidism. Occasionally included in this category are alcohol- and oral contraceptive-induced hypertension and hypothyroidism, but these conditions are not discussed herein. The evaluation of secondary hypertension is of interest and can bring together different facets of anatomy, physiology, pharmacology, and radiology in the medical and surgical treatment of these disorders. Despite enthusiasm that can be generated in the evaluation of these conditions, evaluation can be expensive and should not be conducted for all patients with hypertension. Features that aid in the diagnosis of secondary hypertension include the following: 1. Onset of hypertension before the age of 20 or after the age of 50 years. The presence of hypertension at a young age may suggest coarctation of the aorta, fibromuscular dysplasia, or an endocrine disorder. Hypertension found for the first time after the age of 50 years may suggest the presence of renovascular hypertension caused by atherosclerosis. 2. Markedly elevated blood pressure or hypertension with severe end-organ damage, as in grade III or IV retinopathy. These findings suggest the presence of renovascular hypertension or pheochromocytoma. 3. Specific body habitus and ancillary physical findings. For example, truncal obesity and purple striae occur with hypercortisolism, and exophthalmos is associated with hyperthyroidism. 4. Resistant or refractory hypertension (poor response to medical therapy usually necessitating use of more than three antihypertensive medications from three different classes). 5. Specific biochemical test that suggest the existence of certain disorders, such as hypercalcemia in hyperparathyroidism, hyperglycemia in Cushing's syndrome and pheochromocytoma, and unprovoked hypokalemia with renin-producing tumors, primary hyperaldosteronism, or renin-mediated renovascular hypertension. 6. Other characteristics that may suggest secondary hypertension such as abdominal diastolic bruits (renovascular hypertension), decreased femoral pulses (coarctation of the aorta), or bitemporal hemianopias (Cushing's disease). A combination of a good history and physical examination, astute observation, and accurate interpretation of available data usually are helpful in the diagnosis of a specific causation.
 ...
PMID:Secondary hypertension: evaluation and treatment. 894 19

In a brief review of advances in endocrinology in the last two years the author discusses above all the vain expectations of a drug against obesity-the adipose tissue hormone leptin. Its elevated blood level in human obesity indicates that its secretion depends on the mass of adipose tissue and it is not certain whether leptin reduces the food intake in humans. Perhaps resistance to leptin is involved. New receptor diseases were revealed: mutation of LH receptors leads in both sexes to hypogonadism. Mutation of the calcium receptor in parathyroid cells leads to familial hypocalciuric hypercalcaemia or autosomal dominant hypocalcaemia. The complex regulation of the tonus of the vascular wall by endothelins is still the object of interest. Aquaporin is a renal protein which mediates the action of vasopressin. In the sphere of stress evidence is emerging on the participation of CRH in brain activity and the possibility to influence autoimmune inflammations and perhaps even AIDS by interference with the CRH-proopiomelanocortin-ACTH-cortisol system.
 ...
PMID:[Endocrinology 1995-1996]. 926 67

This is a case report of a 23 year old female. She had earlier been diagnosed to have Cushing's syndrome due to macronodular adrenal hyperplasia, for which bilateral adrenalectomy was performed three years before. The initial full recovery was sustained for about one and a half years, following which there was progressive recurrence of obesity, hypertension and hypercalcaemia. Plasma cortisol concentrations were markedly elevated and a diagnosis of recurrent Cushing's syndrome was made. Pre-operative localisation of the source of hypercortisolism through intravenous urogram, abdominal ultrasonogram and computerised tomogram was unfruitful, thus an exploratory laparatomy was undertaken. At surgery, extensive and dense adhesions were seen which caused difficult dissection and accidental injury to the patient's liver and kidney, necessitating massive intra-operative blood transfusions. The patient died within two hours of recovery from anaesthesia of acute massive pulmonary embolism. We postulate that the recurrent Cushing's syndrome in this patient could have been due autografting of remnants of adrenal tissue within the abdominal cavity. A pre-operative localisation with radio-labelled cholesterol scanning may have made reoperation of the patient easier.
 ...
PMID:A follow up report: recurrent Cushing's syndrome after bilateral adrenalectomy. 1150 90

Patients with primary hyperparathyroidism (PHPT) have an increased cardiovascular morbidity and mortality. Elevated serum calcium and/or PTH may directly contribute to vascular tissue damage, but the role of classic factors for atherosclerosis has not fully been evaluated in this disease. The aim of our study was to dissect the potential effect of hypercalcemia and/or high PTH from that of major cardiovascular risk factors (i.e. diabetes mellitus, hyperlipidemia, hypertension, obesity, smoking habit) on the carotid artery structure of patients with PHPT. Twenty-six consecutive patients with PHPT [subdivided into two groups according to the absence (n = 10) or the presence (n = 16) of one or more risk factors] and 15 normocalcemic healthy subjects as controls were studied. At ultrasonography, a significant increase (P < 0.001) of carotid mean and maximum intima-media thickness, as well as a significant reduction of lumen diameter (P < 0.05) were found in the PHPT group with risk factors, compared with the other two groups. This suggests that hypercalcemia and/or PTH elevation per se are not determinant of carotid atherosclerosis in PHPT, and that increased cardiovascular mortality and morbility in this disease is attributable to the combined presence of classic cardiovascular risk factors.
 ...
PMID:Ultrasound evaluation of carotid artery in primary hyperparathyroidism. 1272 60

Nutrition support in the critically ill patient is challenging but is even more difficult in a morbidly obese patient. This case report chronicles the care of a 6-foot-tall, 256-kg male (body mass index 76.5 kg/m(2)) who spent over a month in the intensive care unit for respiratory failure, sepsis, and acute renal failure. Parenteral nutrition was provided throughout his critical care course. One of the major difficulties encountered was determining his nutritional needs. A hypocaloric nutritional regimen was used, along with moderate protein provisions. Numerous electrolyte imbalances occurred, including hypercalcemia that did not resolve by eliminating calcium from the parenteral nutrition solution. Enteral nutrition was desired but was not used initially because of a need for vasopressors, a diagnosis of pancreatitis, difficulty in documenting feeding tube placement because of diagnostic limitations secondary to the patient's large size, and concern about managing stools. Eventually, oral intake and supplemental enteral feeding were initiated. Nutrition support team members worked closely with the interdisciplinary care team to develop strategies to manage the nutritional problems related to his obesity. A discussion of the various nutritional issues encountered in the care of this patient is provided. Reasonable nutritional status was achieved, but this case reflects some of the challenges encountered in caring for the nutritional needs of select patient populations in clinical practice and the need for increased research and guidelines in this area.
 ...
PMID:Nutrition support in the morbidly obese, critically ill patient. 1621 17

Molecular diagnostic techniques provide an unsurpassed opportunity to understand the pathophysiological basis of endocrine disorders. Diseases have been associated with mutations in almost every gene known to have a role in either the production or secretion of a hormone or the mediators of hormone signalling. Even though most of these mutations are rare and account for only a small fraction of endocrine diseases, molecular diagnostics offers a valuable tool for the clinician in these cases. The most common endocrine disorders such as autoimmune thyroiditis, type 2 diabetes mellitus, osteoporosis, growth disorders, and obesity have all major genetic components, but these are mostly unknown. In this review the clinical implications of molecular diagnostics are illustrated for some endocrine diseases: congenital adrenal hyperplasia, congenital hypothyroidism, thyroid hormone resistance, familial hypocalciuric hypercalcaemia, growth hormone deficiency and resistance, and monogenic obesity. Improved diagnostic specificity has direct implications for treatment and follow up in these syndromes. Molecular diagnostics in endocrine tumours and diabetes are presented in two other articles in this series.
 ...
PMID:[Molecular diagnostics in endocrine diseases]. 1647 3


1 2 3 Next >>