1/12. syndrome of lipodystrophy, hyperlipidemia, insulin resistance, and diabetes in treated patients with human immunodeficiency virus infection.OBJECTIVE: To describe the syndrome of lipodystrophy, hyperlipidemia, insulin resistance, and diabetes in patients with human immunodeficiency virus (hiv) infection treated with protease inhibitor drugs. methods: This is a case series of patients referred from an infectious disease clinic to a diabetes-endocrinology clinic in an academic medical center because of severe metabolic problems that occurred during the course of otherwise-successful treatment of hiv infection. The clinical course, abnormalities on physical examination, laboratory data, and complications are described and analyzed. The pathogenesis of the syndrome is discussed and compared with that of type 2 diabetes, lipoatrophic diabetes, and mouse models of lipodystrophy. RESULTS: In six male patients receiving antiretroviral therapy for hiv infection, a syndrome of lipoatrophy of the face, legs, and buttocks, hyperlipidemia (predominantly hypertriglyceridemia), and type 2 diabetes mellitus was noted. Two patients had pronounced abdominal obesity, in contrast to their thin extremities. Five of the six patients were receiving protease inhibitor drugs, which have been thought to contribute to metabolic abnormalities. In two patients, ischemic heart disease had developed. CONCLUSION: protease inhibitors frequently cause insulin resistance and lipoatrophy in subcutaneous adipose tissue. These abnormalities are associated with visceral adiposity, hyperlipidemia, diabetes, and cardiovascular consequences and represent an important and unsolved problem in the treatment of hiv-infected patients.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/12. Ocular manifestations of Donohue's syndrome.INTRODUCTION: Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. The physical features most often associated with this condition include hypertrichosis, pachyderma, acanthosis nigricans, prominent genitalia, and elfin-like facial characteristics of prominent eyes, wide nostrils, thick lips, and large, low-set ears. Not only is this syndrome rare, but it often results in infant and early childhood mortality. The literature regarding ocular manifestations is limited. CASE REPORT: We present a case of a 29-year-old male with Donohue's syndrome and significant ocular findings including a subluxated mature cataract, retinal detachment, high myopia, and optic atrophy. DISCUSSION: These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth.- - - - - - - - - - ranking = 0.15597821264282keywords = physical (Clic here for more details about this article) |
3/12. Is this patient insulin resistant? How much does it matter?Alex was an obese 10-year-old girl with a family history of type 2 diabetes, hypertension, and perhaps polycystic ovarian syndrome. Her physical examination was significant for a central accumulation of body fat and acanthosis nigricans. Although the laboratory studies indicated that Alex was not diabetic and probably not glucose intolerant, she could be insulin resistant (IR). Should any further evaluation be done? If Alex is IR, what kind of treatment should be offered? The following discussion addresses these questions by reviewing the pathophysiology, diagnosis, and consequences of isolated IR.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/12. Managing 'metabolic syndrome' and multiple risk factors.BACKGROUND: risk factors tend to cluster and are shared across common diseases seen in general practice. The 'metabolic syndrome' is a cluster of fasting hyperglycaemia, abdominal adiposity, dyslipidaemia and hypertension. This syndrome is associated with both insulin resistance and behaviourally modifiable risk factors such as smoking, physical activity and unhealthy diet. OBJECTIVE: This article aims to provide pragmatic guidance on conditions that are lifestyle based and present as a number of disease states that require multiple interventions. Management of comorbidity and multiple risk factors is discussed using a case vignette. DISCUSSION: Metabolic disease states have common bases and their management is directed toward identifying all the risk factors, establishing absolute risk and intervening sequentially.- - - - - - - - - - ranking = 0.15597821264282keywords = physical (Clic here for more details about this article) |
5/12. Rabson-Mendenhall syndrome.Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.- - - - - - - - - - ranking = 0.15597821264282keywords = physical (Clic here for more details about this article) |
6/12. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.CONTEXT: To date, all cases of familial partial lipodystrophy type 2 (FPLD2; Mendelian Inheritance in Man 151660) result from missense mutations in LMNA, which encodes nuclear lamin A/C (Mendelian Inheritance in Man 150330). OBJECTIVE: The objective of the study was to carry out mutational analysis of LMNA in two sisters with a particularly severe FPLD2 phenotype. DESIGN: This was a descriptive case report with molecular studies. SETTING: The study was conducted at a referral center. patients: We report two sisters of South Asian origin. The first presented with acanthosis nigricans at age 5 yr, diabetes with insulin resistance, hypertension and hypertriglyceridemia at age 13 yr, and partial lipodystrophy starting at puberty. Her sister and their mother had a similar metabolic profile and physical features, and their mother died of vascular disease at age 32 yr. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES AND RESULTS: LMNA sequencing showed that the sisters were each heterozygous for a novel G>C mutation at the intron 8 consensus splice donor site, which was absent from the genomes of 300 healthy individuals. The retention of intron 8 in mRNA predicted a prematurely truncated lamin A isoform (516 instead of 664 amino acids) with 20 nonsense 3'-terminal residues. The mutant lamin A isoform failed to interact normally with emerin and failed to localize to the nuclear envelope. CONCLUSIONS: This is the first LMNA splicing mutation to be associated with FPLD2, and it causes a severe clinical and metabolic phenotype.- - - - - - - - - - ranking = 0.15597821264282keywords = physical (Clic here for more details about this article) |
7/12. Benign symmetric lipomatosis associated with alcoholism.A 46-year-old man was diagnosed as having benign symmetric lipomatosis (BSL) based on the grotesque physical examination findings and subcutaneous fat tissue biopsy. Although markedly overweight, the glucose tolerance was normal and insulin levels indicated no remarkable insulin resistance on the 75 g oral glucose tolerance test. Furthermore his visceral fat tissue was very slight and the circulating adiponectin concentration was high those which suggesting a high insulin sensitivity. In addition, the relevance of alcohol in the onset of BSL is strongly suggested based on alcoholic hepatopathy and the history of the development of grotesque physical appearance associated with increased alcohol consumption.- - - - - - - - - - ranking = 1.1559782126428keywords = physical examination, physical (Clic here for more details about this article) |
8/12. insulin resistance and acanthosis nigricans, type A: case report.A 9-year-old Somali girl was referred to the Paediatric Diabetic Clinic, Al-Amiri Hospital for control of her diabetes. On physical examination, she was found to have several somatic abnormalities and acanthosis nigricans. Biochemical and hormonal investigations revealed no major abnormalities apart from that of glucose metabolism. insulin resistance was detected early on initiating treatment and, even with high doses, it was impossible to achieve normoglycaemia. This case is similar to other cases described in the literature with insulin resistance and acanthosis nigricans type A.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
9/12. Leprechaunism: in vitro insulin action despite genetic insulin resistance.We recently identified a female leprechaun infant with marked hyperinsulinemia [as high as 10,975 microU/ml (78,746 pmol/liter)], presumably secondary to insulin resistance. She had two physical findings suggestive of possible insulin action: cystic ovarian enlargement with gonadotropin-independent steroid secretion and persistent, severe myocardial hypertrophy. To examine the pathophysiology of this disorder we measured the in vitro sensitivity to insulin and other growth factors of erythroid progenitors and a T-lymphoblast cell line derived from her peripheral blood. Resistance to insulin was demonstrated by failure of her circulating erythroid progenitor cells to augment proliferation in response to physiologic concentrations of insulin (1-10 ng/ml). An immortalized T lymphoblast cell line was established by transforming the cells with the human retrovirus human T cell leukemia virus II. This cell line showed little or no response to physiologic concentrations of insulin contrary to consistently observed stimulation of colony formation by cell lines similarly derived from normals. The patient's T lymphoblasts, however, showed normal sensitivity to insulin-like growth factor i. In response to supraphysiologic insulin concentrations (25-1000 ng/ml), leprechaun T lymphoblasts showed significant augmentation of colony formation (peak 189% above baseline at 50 ng/ml); normal T lymphoblasts also showed responsiveness at these high insulin concentrations. Preincubation with a monoclonal antibody against the insulin-like growth factor i receptor (alpha IR-3 at 5000 ng/ml) blocked the in vitro effect of physiologic concentrations of insulin-like growth factor and supraphysiologic concentrations of insulin on leprechaun and control T lymphoblast colony formation, but had no clear effect upon the response to physiologic insulin concentrations.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 0.15597821264282keywords = physical (Clic here for more details about this article) |
10/12. Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor.We describe three siblings with a mild diabetes mellitus in combination with acanthosis nigricans and multiple minor physical abnormalities. fasting plasma insulin was elevated up to 100-fold as compared with normal values, and the diabetes was classified as insulin resistant. Insulin-binding studies on erythrocytes, monocytes, and cultured fibroblasts disclosed an abnormally reduced binding capacity, as compared with that of healthy controls, which was most prominent at low concentrations of insulin. Scatchard analysis on erythrocytes of the three patients revealed a normal number of total insulin-binding sites per cell, but a complete lack of insulin binding to the high-affinity receptor component. The findings are consistent with the assumption of two genetically distinct types of insulin receptors.- - - - - - - - - - ranking = 0.15597821264282keywords = physical (Clic here for more details about this article) |
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