Alström syndrome is a rare ciliopathy affecting about 1 in 1,000,000 individuals. It is characterised by cone-rod dystrophy, insulin resistance, diabetes mellitus, cardiomyopathy, renal failure and hypogonadism. Progressive multi-organ dysfunction eventually leads to death. Only about 800 patients with this disorder have been identified so far. The diagnosis of Alström syndrome is critical as it can easily be overlooked because of the many features it shares with metabolic syndrome. The gene affected in this autosomal recessive disease is ALMS1, the protein product of which is involved in intracellular trafficking and ciliary function. Alström syndrome is being studied as a model which would potentially shed light on the pathophysiology of diabetes mellitus. In this report, we describe a patient with features of Alström syndrome and a clinical picture suggestive of a recurrent, severe, steroid responsive myopathy which, to the best of our knowledge, has not been reported so far.
The results in this study in Indian patients with stage 2 essential hypertension suggest that the FDC of T + R controlled BP more effectively compared with the FDC of L + R over 8 weeks. The response rates were similar between the 2 groups. Both treatments were well tolerated.
Background: In individuals with type 2 diabetes mellitus (T2DM) the presence of Cardiac autonomic neuropathy (CAN) increases the risk of severe hypoglycaemia, cardiac arrhythmias, silent myocardial ischemia and stroke. It is also associated with increased perioperative morbidity and mortality, even with minor surgeries in these patients. The present study was conducted to assess the prevalence of CAN in T2DM patients and to investigate any possible association between CAN and micro vascular complications.Methods: 102 T2DM patients between the age of 30 years and 70 years, who attended outpatient department of Institute of Diabetology, Rajiv Gandhi Government General Hospital and Madras Medical College, Chennai, Tamil Nadu were included. All the selected patients underwent laboratory investigations, biothesiometry, fundus examination, and CAN assessment by CANS analyser.Results: A slight female preponderance was noted in the study, though it was statistically insignificant. Out of 102 patients, prevalence of CAN dysfunction was found in 82 (80.39%) of T2DM patients. No significant association of CAN was noted with duration of diabetes (p=0.772), HbA1c (p=0.827) and nephropathy (p=0.524). However, peripheral neuropathy (p=0.006) and retinopathy (p=0.03) were found to be significantly associated with CAN in T2DM patients.Conclusions: Prevalence of CAN in asymptomatic South Indian T2DM population was found to be 80.39%, with equal sex distribution and was most common in the 51- 60 years age group. Diabetic neuropathy and retinopathy were the most significant microvascular complications predictive of the incidence of CAN in T2DM patients.
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