Concomitant dysregulation of androgen secretion and dysfunction of adipose tissue induced insulin resistance

Hyperandrogenism and hyperinsulinemia have resulted from dysfunction of the theca cell of the ovary and adipose tissue and each one potentiates the other in patients with androgen excess disorders e.g., polycystic ovary disease and idiopathic hirsutism. Possible external and/or internal triggers can produce such cellular dysfunction. There is evidence that sodium valproate acts as a trigger of cellular dysfunction and produces both hyperinsulinemia and hyperandrogenism. Therefore, the elimination of these triggers can help the patients to recover from hyperinsulinemia, insulin resistance and hyperandrogenism.     

Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome

Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular anomalies. Ten percentage to 15% of the patients with AS have autosomal recessive (ARAS) due to mutation in either COL4A3 or COL4A4 gene. We report a novel mutation in the COL4A3 gene in an Indian family with ARAS. The above‐mentioned genetic anomaly was a missense variation in exon 26 of the COL4A3 gene (chr2:228137797G>A; c.1891G>A) that resulted in the amino acid substitution of Arginine for Glycine at codon 631 (p.Gly631Arg) that was present in the heterozygous state in the asymptomatic parents and homozygous state in the male offspring who presented with early‐onset end‐stage renal disease, lenticonus and hearing loss. The patient (male offspring) underwent successful renal transplantation with his mother as a donor.     

Blood donors with 'medium' or 'minor' risk factors for human immunodeficiency virus infection: are they eligible for donation?

BACKGROUND AND OBJECTIVES: We conducted a longitudinal prospective study to assess the eligibility to blood donation of donors with 'minor' risk factors (i.e. minor surgery, professional exposure, cohabitation with 'high risk' people, occasional use of light drugs) or 'medium' risk factors for human immuno-deficiency virus (HIV) infection (i.e. casual sexual relationship, multiple heterosexual exposure, sexual partnership with subjects at risk, regular use of light drugs). DESIGN AND METHODS: During a 4-year period we administered a psychosocial questionnaire to all donors attending our Center. In addition we determined anti-HIV, anti-hepatitis C virus (HCV), hepatitis B surface antigen (HBsAg) and syphilis serology (TPHA) at entry to the study and at 6-month intervals. RESULTS: Of 25,367 donors, 1,535 (6%) reported medium and 8,761 (34%) minor risk. At enrollment into the study, 4 medium risk donors were anti-HIV positive and there was a significantly higher rate of positivity for TPHA (0.33% vs 0.07%) and anti-HCV (1.17% vs 0.63%) in this group than in donors reporting no risk. No anti-HIV positivity was observed in minor or no risk donors. During a median follow-up of 18 months, none of 24,404 donors undergoing 106,503 visits seroconverted to HIV. The incidences of novel HCV and syphilis infections were almost one log greater in donors at medium risk (3 and 1x10-4/yr, respectively) than in no risk donors (0.4 and 0.1x10-4/yr, respectively). Medium risk donors were more frequently males (Odds Ratio=3.2, 95% confidence interval= 2.8-3.7), aged 26-35 yrs (1.52; 1.3-1.78), single (1.4; 1.2-1.6), divorced (2; 1.4-2.8), freelance workers (1.43; 1.1-1.9) and first-time donors (1.8; 1.6-2.1) than no risk donors. INTERPRETATION AND CONCLUSIONS: The only 4 HIV positive subjects of the cohort were medium risk donors picked up at enrollment. No HIV seroconversion was observed during the study. On the basis of this study we will continue to defer 'medium' risk donors.     

High frequency of anti-endomysial reactivity in candidates to heart transplant

BACKGROUND: A possible link between coeliac disease and dilated cardiomyopathy has recently been suggested. AIMS:. To assess the frequency of anti-endomysial antibodies, the marker for coeliac disease, in patients with different forms of heart failure, and to establish the clinical features of those endomysial antibody positive. SUBJECTS AND METHODS:. A total of 642 consecutive patients entering the waiting list for heart transplantation from 1995 through 1997 were studied. The prevalence of endomysial IgA antibodies, determined by indirect immunofluorescence, was compared to that observed in three surveys conducted in the Italian general population. RESULTS: Of the 642 patients, 12 (1.9%; 95% confidence interval 0.97-3.2) resulted endomysial antibody positive, versus 34/9,720 healthy controls (0.35%; 95% confidence interval, 0.23-0.47), accounting for a relative risk of 5.3 (95% confidence interval, 2.8-10.3). Anti-endomysial antibodies were found in 6/275 patients with dilated cardiomyopathy and 6/367 with other forms of heart failure (2.2% versus 1.6%; 95% confidence interval 0.8-4.7 and 0.6-3.5), with no statistical difference. The 12 endomysial antibody positive patients were leaner (body mass index, 22.0 +/- 1.9 vs 24.2 +/- 3. 1, p<0. 05) than 36 seronegative patients matched for baseline demographics and aetiology of cardiomyopathy No differences were observed as regards clinical, biochemical and echocardiographic features, mortality in waiting list and 2-year post-transplant survival. CONCLUSIONS: Patients with end-stage heart failure are at increased risk for coeliac disease as compared to the general population.