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At least 883 records · Page 49Linked to original sources
PubMed1998

Non-insulin dependent diabetes mellitus in Mexican-American children.

To define the clinical and metabolic characteristics of children with non-insulin-dependent diabetes mellitus (NIDDM), we reviewed the medical records of 18 children and adolescents who met either or both of the following criteria for the diagnosis of the disease: evidence of continued endogenous secretion of insulin beyond that expected in insulin-dependent diabetes mellitus and satisfactory glycemic control with diet alone or in combination with an oral hypoglycemic agent more than 2 years from the time of diagnosis. Patients who met these criteria but had islet cell antibodies or insulin autoantibodies were eliminated from the study group. Patients with NIDDM constituted 8% of all patients with diabetes seen in our pediatric clinics and 19% of diabetic patients of Central or South American ancestry. Of the 18 patients, 12 (67%) were Mexican American. The mean age of onset was 12.8 years (range, 5 to 17). Obesity (n = 9) and acanthosis nigricans (n = 12) were common findings. Ketonuria was present at diagnosis in 5 (33%) of 15 patients and acidosis in 2 of 14 (14%). Challenge with a nutritional supplement (Sustacal, Mead Johnson Nutritionals) (n = 10) showed a mean fasting serum C-peptide concentration of 1.19 nmol per liter (3.6 ng per ml). A family history of NIDDM was present in 13 (87%) of 15 patients, with 7 (47%) having 3 or more generations affected. Children with NIDDM are an important subset of those with diabetes, and this disease should be suspected in diabetic children presenting without ketoacidosis and with acanthosis nigricans, obesity, and a strong family history, particularly among those of Mexican-American ethnicity. Children with these characteristics should undergo testing of endogenous insulin secretion for appropriate therapeutic intervention.

Adolescent↗
PubMed1997

Mucosal changes in the upper gastrointestinal tract in Sri Lankan patients with squamous carcinoma of the oesophagus.

BACKGROUND: Squamous carcinoma of the oesophagus, is a common tumour in Sri Lanka. A thickened and pale appearance of the oral, hypopharyngeal and oesophageal mucosa, has been observed during endoscopy. The aim of this study was to document the histological changes of the mucosa thus affected in 93 patients with squamous carcinoma of the oesophagus. METHOD: 93 patients with oesophageal carcinoma had mucosal biopsies done from the left cheek, hypopharynx and 2.5 cm. and 5 cm above the tumour, during endoscopy for biopsy of the tumour. Paraffin sections of the biopsy stained with Haematoxylin and Eosin were examined. 25 specimens of oesophageal tissue, and tissue from the mucosa and hypopharyngeal mucosa obtained at coroners' autopsies from a comparable group served as controls (15 males, 10 females). RESULTS: The tumours were squamous carcinoma of varying grades of differentiation. The mucosal biopsies showed, acanthosis, basal cell hyperplasia, intra epithelial neoplasia (IEN) grades I-III, chronic oesophagitis, koilocytosis and papillomatosis. The mucosa of the control group only showed koilocytosis and papillomatosis in two cases. CONCLUSION: Pathological changes such as acanthosis, basal cell hyperplasia, intra epithelial neoplasia, chronic oesophagitis koilocytosis and papillomatosis occur in the oral hypopharyngeal and other areas of the oesophageal squamous mucosa, in association with squamous carcinoma of the oesophagus.

Adult↗
PubMed2005

Can waist circumference identify children with the metabolic syndrome?

OBJECTIVE: To determine in children the association between waist circumference (WC) and insulin resistance determined by homeostasis modeling (HOMA-IR) and proinsulinemia and components of the metabolic syndrome, including lipid profile and blood pressure (BP). METHODS: Eighty-four students (40 boys) aged 6 to 13 years and matched for sex and age underwent anthropometric measurements; 40 were obese; 28, overweight; and 16, nonobese. Body mass index (BMI), WC, BP, and Tanner stage were determined. An oral glucose tolerance test, lipid profile, and insulin and proinsulin assays were performed. Children were classified as nonobese (BMI < 85th percentile), overweight (BMI, 85th-94th percentile), and obese (BMI > or = 95th percentile). RESULTS: There was univariate association (P < .01) between WC and height (r = 0.73), BMI (r = 0.96), Tanner stage (r = 0.67), age (r = 0.56), systolic BP (r = 0.64), diastolic BP (r = 0.61), high-density lipoprotein cholesterol level (r = 0.45), triglyceride level (r = 0.28), proinsulin level (r = 0.59), and HOMA-IR (r = 0.59). Multiple linear regression analysis using HOMA-IR as the dependent variable showed that WC (beta coefficient = 0.050 [95% confidence interval, 0.028 to 0.073]; P = .001) and systolic BP (beta coefficient = 0.033 [95% confidence interval, 0.004 to 0.062]; P = .004) were significant independent predictors for insulin resistance adjusted for diastolic BP, height, BMI, acanthosis nigricans, and high-density lipoprotein cholesterol level. CONCLUSION: Waist circumference is a predictor of insulin resistance syndrome in children and adolescents and could be included in clinical practice as a simple tool to help identify children at risk.

Acanthosis Nigricans↗
PubMed1997

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with normal cholesterol levels were observed in most affected individuals tested. Non-insulin dependent diabetes mellitus and growth retardation appear to be age-related manifestations that occur post-adolescence. Younger affected children are not overtly hyperglycemic and are normal or above average height for age. Although the AS patients in kindred 1 presumably carry the same mutation, many manifestations of the disease are variable. For example, of the 8 children in the Acadian kindred, 4 have scoliosis, 2 have had infantile cardiomyopathy, 2 are hypothyroid, 1 has had hepatic dysfunction and is hypertensive, and 4 have developed asthma. Seven subjects described in this kindred exhibit developmental delay. One additional manifestation not described widely in the literature, advanced bone age, was observed in all subjects tested. The clinical data from this large Acadian kindred, together with information obtained from 4 additional AS patients in 3 unrelated kindreds, confirm and extend clinical observations previously described. In addition, the Acadian kindred with multiple affected individuals, probably arising from a common founder, should allow for identification of the chromosomal localization of a gene causing AS.

Abnormalities, Multiple↗
PubMed1991

Hepatic dysfunction in Alström disease.

Alström disease is a rare disorder; less than 20 cases have been reported. An 11-year-old girl is described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be a further, previously undescribed systemic manifestation of Alström disease.

Acanthosis Nigricans↗
PubMed1992

Autosomal dominant insulin resistance syndrome due to postbinding defect.

We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated RNA synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.

Acanthosis Nigricans↗
PubMed2003

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia. By means of Denaturing High Performance Liquid Chromatography (DHPLC), we determined that 25% of her lymphocytes are heterozygous for this particular missense mutation in FGFR3, and that 12.5% of her lymphocyte-derived genomic DNA encodes a cysteine residue at this position. The proposita has disproportionate short stature, radial head dislocation, coxa vara, and bowing of some of the long bones, associated with an S-shaped deformity of the humerus, accompanied by widespread acanthosis nigricans in the integument. These features do not match any previously described skeletal dysplasia. Further, the proposita's only pregnancy ended in the delivery of a fetus manifesting a lethal short-limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed thanatophoric dysplasia. These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI).

Acanthosis Nigricans↗
PubMed1983

Cutaneous signs of internal malignancies.

The more common paraneoplastic skin changes associated with internal malignancies (acanthosis nigricans, dermatomyositis, secondary ichthyosis) are discussed. The rare glucagonoma syndrome, consisting of alpha cell tumor of the pancreas, migratory necrolytic erythema, and diabetes mellitus, is described. The importance of recognition of these skin lesions may lead to early detection of the underlying cancer with possible cure.

Acanthosis Nigricans↗
PubMed2001

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings.

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow-up are presented.

Abnormalities, Multiple↗
PubMed1983

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.

Acanthosis Nigricans↗
PubMed1978

Congenital generalized lipodystrophy with insulin-resistant diabetes.

Hyperglycemia, glucose intolerance, hyperinsulinemia and resistance to exogenous insulin were found in a 10-year-old Japanese boy diagnosed as having congenital generalized lipodystrophy. Studies on insulin receptors of circulating mononuclear leucocytes indicated that insulin-resistant diabetes combined with congenital generalized lipodystrophy may be due to disturbance of insulin binding to membrane receptors. No insulin-binding antibody or antibody that impairs insulin-receptor binding was found. Plasma glucagon showed an exaggerated response to L-arginine before treatment. After treatment with a controlled diet and an oral sulfonylurea (500 mg/day) for 4 weeks, there was improvement in the plasma glucagon response to L-arginine. Improvement in the hyperglycemia, hyperinsulinemia and acanthosis nigricans was also observed. On the other hand, on completion of a 7-day high-fat diet, a marked increase in serum free fatty acids, triglycerides and beta-lipoproteins was observed. The total plasma post-heparin lipolytic activity during the high fat diet was within the normal range. However, the level of protamine-inactivated activity was 3 times that of the control.

Acanthosis Nigricans↗
PubMed1990

A patient with features of both Bardet-Biedl and Alström syndromes.

We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posterior columnar involvement. He had normal mental function, normal hearing and no hexadactyly. The patient had symptoms of both Bardet-Biedl and Alström syndromes, but did not manifest all the main features of either syndrome. This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes.

Acanthosis Nigricans↗
PubMed1991

The relative contribution of androgens and insulin in determining abdominal body fat distribution in premenopausal women.

To investigate the relative contribution of insulin and sex hormones in determining the abdominal pattern of fat distribution in premenopausal women, five groups of age-matched subjects were examined: Group 1 consisted of 14 normal weight eumenorrheic women (NO); Group 2 of 9 obese eumenorrheic women (OB); Group 3 of 14 normal weight hyperandrogenic women with polycystic ovary syndrome (NO-HA); Group 4 of 10 obese hyperandrogenic women with polycystic ovary syndrome (OB-HA) and, finally, Group 5 of 10 obese hyperandrogenic women with polycystic ovary syndrome and acanthosis nigricans (OB-HA-AN). Both the two normal weight groups and the three obese groups were matched for body mass index values. Sex hormone pattern showed significantly higher LH and testosterone levels in hyperandrogenic women with respect to NO and OB women but obese hyperandrogenic groups (OB-HA and OB-HA-AN) presented significantly lower LH concentrations than NO-HA. Fasting and glucose-stimulated insulin levels were significantly higher in OB than NO, in OB-HA and OB-HA-AN than in OB and NO-HA, and in OB-HA-AN than in OB-HA, without any significant difference between OB and NO-HA. Body fat distribution, expressed by the waist to hip ratio (WHR), showed progressively higher values (p less than 0.01) from NO to OB, NO-HA, OB-HA and, particularly, OB-HA-AN women. Determination coefficients r2 obtained from simple regression analysis showed that the sum of insulin values during the glucose tolerance test and testosterone levels had a more significant power in determining WHR variability.(ABSTRACT TRUNCATED AT 250 WORDS)

Abdomen↗
PubMed2002

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

AIMS/HYPOTHESIS: We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans. METHODS: We studied IR cell biology and signalling pathways in Chinese Hamster Ovary cells overexpressing this IR(R252C). RESULTS: Our investigation showed an impairment in insulin binding to IR(R252C) related mostly to a reduced affinity of the receptor for insulin and to a reduced rate of IR(R252C) maturation; an inhibition of IR(R252C)-mediated endocytosis resulting in a decreased insulin degradation and insulin-induced receptor down-regulation; a maintenance of IR(R252C) on microvilli even in the presence of insulin; a similar autophosphorylation of mutant IR(R252C) followed by IRS 1/IRS 2 phosphorylation, p85 association with IRS 1 and IRS 2 and Akt phosphorylation similar to those observed in cells expressing wild type IR (IRwt); and finally, a reduced insulin-induced Shc phosphorylation accompanied by decreased ERK1/2 phosphorylation and activity and of thymidine incorporation into DNA in cells expressing IR(R252C) as compared to cells expressing IRwt. CONCLUSION/INTERPRETATION: These observations suggest that: parameters other than tyrosine kinase activation participate in or control the first steps of IR internalisation or both; IR-mediated IRS 1/2 phosphorylation can be achieved from the cell surface and microvilli in particular; Shc phosphorylation and its subsequent signalling pathway might require IR internalisation; defective IR endocytosis correlates with an enhancement of some biological responses to insulin and attenuation of others.

Acanthosis Nigricans↗
PubMed1985

Hyperalimentation as cause of markedly worsened metabolic control in a patient with autoantibodies to the insulin receptor.

Patients with type B insulin resistance and acanthosis nigricans have autoantibodies to their insulin receptors and usually have signs and symptoms of other autoimmune diseases. The first case demonstrating that hyperalimentation markedly disturbs blood glucose control in type B insulin-resistant patients is described. Neither prednisone, insulin (up to 240 units per hour), nor tolbutamide appeared to help this patient's metabolic control. After the addition of cyclophosphamide for one week, the anti-insulin receptor autoantibody titer dropped from greater than 1:1,000 to 1:1. Six months later, the patient had a complete remission, which is rare, with only three other reported remissions in these patients with type B insulin resistance.

Acanthosis Nigricans↗
PubMed1993

A severe case of Beare-Stevenson syndrome and associated congenital deformities.

A severe case of congenital anomalies is described, with several characteristics of Beare-Stevenson syndrome, such as cutis gyrata, acanthosis nigricans, craniofacial anomalies, ear defects, enlarged umbilical stump and anogenital anomalies. He does not have craniosynostosis or clover leaf skull, which has also been described in this syndrome. This patient also shows hands and feet anomalies, absence of skin adnexa in several locations and dental anomalies, which could suggest an associated ectodermal dysplasia.

Abnormalities, Multiple↗
PubMed1978

Cutaneous metastases from prostatic carcinoma.

A case of prostatic adenocarcinoma associated with extensive cutaneous metastases and malignant acanthosis nigricans is reported. Pertinent literature is reviewed. The pathogenesis of the possible mechanism of the development of cutaneous metastases in this as well as other related cases is discussed.

Acanthosis Nigricans↗
PubMed1991

Red blood cell insulin receptors in health and disease.

CONTENTS: Structure and characteristics of erythrocyte insulin receptor. Red blood cell age and insulin receptors. Insulin receptors in human disease states. Obesity. Chronic renal failure. Acanthosis nigricans. Miscellaneous disease states. Insulin receptors in children. Insulin receptors in women during pregnancy. Insulin binding and other hormones. Comparison of biosynthetic insulin, pancreatic human insulin and porcine insulin binding to erythrocytes. Effect of exercise on insulin binding to red blood cells of normal human volunteers. Miscellaneous insulin binding studies. Insulin internalization and degradation. Insulin and erythrocyte metabolism. Summary and conclusion.

Acanthosis Nigricans↗