1/71. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown. A semi-automated genome-wide scan with a set of highly polymorphic short tandem repeats (STR) was carried out in 17 well-characterized pedigrees and identified a locus for CGL to chromosome 9q34. The maximum two-point lod score obtained was 3.6 at D9S1818 (theta(max) = 0.05). There was evidence for genetic heterogeneity (alpha = 0.73) and 2 of the pedigrees were unlinked. Multipoint linkage analysis excluding the 2 unlinked families yielded a peak lod score of 5.4 between loci D9S1818 and D9S1826. The CGL1 critical region harbors a plausible candidate gene encoding the retinoid x receptor alpha (RXRA) that plays a central role in adipocyte differentiation. Identification of the CGL gene(s) will contribute to our understanding of the adipocyte differentiation and elucidation of the mechanisms of insulin resistance in disorders of adipose tissue.- - - - - - - - - - ranking = 1keywords = adipose (Clic here for more details about this article) |
2/71. diagnosis of diabetes mellitus at the hospital of Venice in 1863.In 1674 Thomas Willis reported that the presence of urine 'as sweet as honey' was the pathognomonic sign of diabetes mellitus. In the 19th Century several reactions for the detection of glucose in urine were proposed and glucose measurement became common in the laboratories that were being set up in europe. A case of diabetes mellitus, diagnosed by Namias, the head of the women's Section of the medicine Department of Venice Hospital, was reported in 1863 in the 'Giornale Veneto di Scienze Mediche' which contains clinical and laboratory information. A 34-year-old woman was admitted to the hospital for polydypsia, polyuria, bulimia and fatigue. urine was weighed for 2 months (2-10 kgday(-1)) and the relative density ranged from 1.045 to 1.038. Glucose was measured in the urine using Moore, Trommer and Fehling reagents. A few days after admission a urine sample showed 7.69 parts/100 parts of urine and a blood sample showed 547 mg of glucose/100 g of serum. The assays were carried out in the Clinical Laboratory of Venice Hospital, founded in 1863, directed by Giovanni Bizio, one of the first chemists who graduated at Padua University. In 1863 chemical analyses were commonly carried out in Venice as in the other parts of Habsburg empire.- - - - - - - - - - ranking = 0.030704275215191keywords = fat (Clic here for more details about this article) |
3/71. insulinoma occurring in association with fatty replacement of unknown etiology in the pancreas: report of a case.A 66-year-old woman with a 10-year-history of diabetes mellitus was admitted to our hospital for investigation of several recent attacks of hypoglycemia. Her fasting blood glucose level was very low, at 30-40 mg/dl, and abdominal ultrasonography and computed tomography revealed a tumor in the pancreatic tail with fatty changes. Endoscopic retrograde cholangiopancreatography revealed absence of the main pancreatic duct from the body to tail of the pancreas. Abdominal angiography showed a hypervascular tumor stain in the pancreas, and percutaneous transhepatic portal vein sampling demonstrated a step-up of immunoreactive insulin levels in the splenic vein. Based on these clinical findings, we made a preoperative diagnosis of an insulinoma accompanied by fatty changes in the pancreatic body and tail. During laparotomy for the insulinoma, fat tissue was identified in the anatomic location of the pancreatic body and tail, and resected. Pathological examination of the resected specimen revealed a number of Langerhans islets in the adipose tissue, and an islet cell tumor with fatty replacement of the pancreatic tissue around the tumor. The insulinoma was found not to have caused obstruction of the main pancreatic duct. We present herein a rare case of an insulinoma that developed in the pancreas, and was associated with fatty replacement of unknown etiology.- - - - - - - - - - ranking = 0.77633847693672keywords = adipose, fat (Clic here for more details about this article) |
4/71. diabetes mellitus and life-style--for the primary prevention of diabetes mellitus: the role of diet.Diet treatment for diabetes requires restriction of the food amount (energy intake). It is desirable that patients have a proper relative consumption of the three main nutrients (proteins, carbohydrates, fats) and also habitually take low-energy foods such as vegetables, mushrooms and seaweeds, etc. as often as possible in each meal. Therefore, we can replace the expression 'a diet for diabetes' with 'a diet for healthy living'. By showing a clinical case of an obese diabetic patient, who succeeded to reduce their body weight, HbA1c and oral agents through diet treatment, and finally could go on diet treatment only, the importance of diet therapy can be emphasized. Furthermore, the estimation index was examined to evaluate how accurately diabetic patients could estimate food energy. According to this study, a large amount of food on the plate leads most patients to underestimate the amount of real energy, and patients are apt to eat too much compared with having smaller amounts of food on the plate. By analyzing questionnaires on the diet therapy of approximately 3000 diabetics, it has been shown that the majority of patients at our hospital recognize that diet therapy is the most important factor in the treatment of diabetes. Interestingly, patients who ate all the food served showed a significantly higher body mass index compared with those who left served food.- - - - - - - - - - ranking = 0.030704275215191keywords = fat (Clic here for more details about this article) |
5/71. Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.We describe an unusual family with a fatal genetic syndrome of neonatal diabetes mellitus (DM), enteropathy, endocrinopathy, and severe infections with variable thrombocytopenia. All affected individuals are male; X-linked inheritance is likely. The most common clinical features are neonatal DM, inanition, and enteropathy; a variety of other autoimmune phenomena are less frequent. Clinical variability within and among families is common, including lack of one or more cardinal features. The syndrome is usually fatal, but survival is sometimes possible with immunosuppressive therapy. Clinical variability and frequent new mutations may contribute to poor recognition and underreporting of similar cases.- - - - - - - - - - ranking = 0.061408550430381keywords = fat (Clic here for more details about this article) |
6/71. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.- - - - - - - - - - ranking = 0.061408550430381keywords = fat (Clic here for more details about this article) |
7/71. Familial erythromelanosis follicularis and chromosomal instability.We report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a polyaetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.- - - - - - - - - - ranking = 0.030704275215191keywords = fat (Clic here for more details about this article) |
8/71. Evaluation of insulin resistant diabetes mellitus in alstrom syndrome: a long-term prospective follow-up of three siblings.alstrom syndrome is a rare cause of diabetes mellitus. We studied two generations of a Turkish family in whom four members were affected by alstrom syndrome. The natural course of the syndrome in three sisters was followed for 13 yr. The three sisters had short stature and truncal obesity, and developed complete blindness due to retinitis pigmentosa at 10, 5 and 13 yr of age. Two had sensorineural hearing loss and mild mental retardation, while the other developed diabetic ketoacidosis (DKA) at 14 yr and was treated with insulin from onset of diabetes. In the second case, diagnosis of diabetes was made by an OGTT at age 20 yr, and controlled with diet alone for 11 yr, then with a sulphonylurea for 2.5 yr, then with insulin. The third case developed acute hyperglycaemia at 20 yr, and required insulin from onset. Moreover, transitional features of impaired carbohydrate and fat metabolism (severe hyperinsulinaemia and insulin resistance progressing to islet beta cell failure, and hypertriglyceridaemia with fatty liver) were demonstrated, in accord with the literature. Previously unreported findings characteristic of nephro-uropathy with early-onset hypertension were also detected, and included in all cases proteinuria, glomerulopathy, and abnormal locations of the kidneys, narrowed uretero-renal junctions and dilated ureters.- - - - - - - - - - ranking = 0.061408550430381keywords = fat (Clic here for more details about this article) |
9/71. cholesterol embolization syndrome: cutaneous histopathological features and the variable onset of symptoms in patients with different risk factors.cholesterol embolization syndrome (CES) may not only be due to direct dislodgement of cholesterol crystals from atherosclerotic plaques on the walls of arteries by surgery, angiogram or trauma, but may occur after anticoagulant and thrombolytic therapy. The latter two therapies both weaken the fibrin clot that stabilizes the atheromas in place; however, these two therapies commonly have different onsets of CES after their institution. We present three patients with different risk factors for CES who all presented with the pathognomonic triad of leg and/or foot pain, livedo reticularis and good peripheral pulses. In all three patients cholesterol emboli were demonstrated in cutaneous biopsy sections. In two patients there was associated renal involvement, which was fatal in one case. These cases illustrate that cutaneous biopsy may be diagnostic in patients with livedo reticularis, which progresses to necrosis and gangrene. In addition, they illustrate the problems and contradictions involved in treating patients with CES.- - - - - - - - - - ranking = 0.030704275215191keywords = fat (Clic here for more details about this article) |
10/71. Serial body composition by bioimpedance analysis in a diabetic subject with rapid insulin-induced weight gain--a case report.Insulin treatment is well known to induce progressive body weight gain. However, rapid weight increase due to transient fluid accumulation is rare. Bioelectrical impedance analysis (BIA) is a convenient method for determining body composition and water content. We report an 18-year-old diabetic female with rapid insulin-induced weight gain due to excessive body water retention, found by serial BIA measurement. The patient was admitted to our hospital due to uncontrolled diabetes. She had an initial body weight of 55 kg and height of 165 cm. However, a weight gain of 6.5 kg was noted one week after starting insulin injections and further increased to 8 kg after the second week. Finally a net weight increase of 4 kg from fat and lean mass was attained after two months. The weekly BIA data showed that most of the initial weight gain came from water retention, peaking on day 14 and recovering afterwards. Rapid weight gain shortly after insulin therapy may be due to excessive but reversible water retention, detected by repeated BIA measurements.- - - - - - - - - - ranking = 0.030704275215191keywords = fat (Clic here for more details about this article) |
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