Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy.

BACKGROUND: Cognitive impairment is commonly seen in patients with Duchenne muscular dystrophy (DMD). Few studies have shown a correlation between loss of different isoforms of the DMD gene and cognitive impairment. OBJECTIVE: The objective of the study was to determine whether correlation exists in the location of mutation in DMD gene or loss of different isoforms and cognitive impairment in children with DMD in the Indian population. MATERIALS AND METHODS: Ten children were evaluated. Gene mutation analysis was done by multiplex ligation-dependent probe amplification method. The isoforms affected were inferred from mutation location in each of these patients. Binet Kamat Intelligence Test (BKT) and Bender Gestalt test (BGT) were administered. RESULTS: All male patients were aged between 4 and 9 years. Genetic analysis showed deletion in all patients, with seven having deletion in "hotspot" regions (exon 43-52). Psychometric analysis by BGT and BKT showed mean score of 8.6 and mean IQ score of 85.5, respectively. Comparison between patients with hotspot mutations and mutations in other regions, for mean IQ score and BGT score, was statistically significant (P = 0.132 and P = 0.005, respectively). The difference in the IQ score between patients with isolated Dp427 loss (n = 3) and cumulative Dp427/Dp260/Dp140utr loss (n = 6) was statistically significant (P = 0.011). Visuomotor functioning was more impaired in patients with isolated Dp427 loss. CONCLUSION: The role of cumulative loss of isoforms along with importance of loss of Dp140pc isoform was seen in our study. One patient with loss of Dp140utr isoform had intellectual impairment which is not commonly seen. Visuomotor functioning is more affected in more upstream mutations as shown in our study.

Children living in the slums of Bangladesh face risks from unsafe food and water and stunted growth is common.

AIM: This study investigated the microbial quality of food and water consumed by children in four slums in Dhaka, the capital of Bangladesh, together with the associated risk factors. METHODS: This cross-sectional study took place from December 2015 to May 2016 and focused on 360 children under the age of five. We recorded household food security, namely adequate food for a healthy life, socio-economic and nutritional status, hygiene and feeding practices. Food and water samples were analysed. RESULTS: We found that 63% of the children were malnourished and 58% were stunted. Yeast and moulds were detected in 86% of the food samples and coliforms in 73%. All the water samples were contaminated with faecal coliforms, yeasts and moulds and Staphylococcus. Food insecurity affected 83% of households. Children were twice as likely to be malnourished if they were born with a perceived low birthweight or their mothers did not wash their hands with soap after cleaning the child's bottom following defecation. Exclusively breastfed children were less likely to develop malnutrition. CONCLUSION: Children from the Dhaka slums were frequently stunted and malnourished and contaminated food and water was common. Integrated efforts are essential to create public awareness about hygiene.

Quadriparesis due to Gitelman's syndrome diagnosed with thiazide diuretic test response.

Gitelman's syndrome is characterized by hypocalciuria, severe hypomagnesemia, and prominent muscular involvements such as fatigue, weakness, cramps, and tetany. It is due to mutations in the thiazide sensitive NaCl co-transporter in the distal convoluted tubule. The administration of thiazide diuretics may induce a subnormal increase of urinary Cl(-) excretion in patients with Gitelman's syndrome, consistent with the hypothesis that less than normal Cl(-) is reabsorbed by the thiazide-inhibitable transporter in Gitelman's syndrome. Thus, we report a case of Gitelman's syndrome presenting with quadriparesis diagnosed by using thiazide clearance test.

An uncommon initial presentation of snake bite-subarachnoid hemorrhage: A case report with literature review.

Snake bites are very common in India, particularly in West Bengal. Snake bite can cause various hematological, neuromyopathical complications. It can be very fatal if not detected and treated early. Timely intervention can save the patient. We are reporting a case of hematotoxic Russell viper snake bite presented with subarachnoid hemorrhage. Patient was successfully treated with antivenom serum (AVS) along with other conservative management. Subarachnoid hemorrhage as an initial presentation in viper bite is very rare and we discuss the case with proper literature review.

Chylous ascites and lymphangiectasia in focal segmental glomerulosclerosis--a rare coexistence: a case report.

INTRODUCTION: Nephrotic syndrome is considered a rare cause of chylous ascites. Intestinal lymphangiectasia in a background of chylous ascites and without any lymphatic obstruction has been reported in association with yellow nail syndrome, which is a rare clinical occurrence in itself. The existence of chylous ascites, duodenal and splenic lymphangiectasia (without any lymphatic obstruction) and nephrotic syndrome in the form of focal segmental glomerulosclerosis in the same patient makes this case the first of its kind to be reported in the literature. CASE PRESENTATION: Here we report the case of a 54-year-old Asian man who presented with recurrent episodes of anasarca for approximately 25 years. He was subsequently found to have chylous ascites, lymphangiectasia and persistent proteinuria. A renal biopsy revealed focal segmental glomerulosclerosis, not otherwise specified. A lymphangiogram, which was performed with the purpose of addressing the intestinal lymphangiectasia, failed to demonstrate any abnormality of lymphatic channels. He was put on oral steroids with consequent remission of his oedema and proteinuria. CONCLUSIONS: This case highlights the fact that duodenal and splenic lymphangiectasia can exist in a scenario of chylous ascites without any obvious obstruction of lymphatic channels and in the absence of yellow nail syndrome. This case also signifies that chylous ascites may be a rare presenting feature of nephrotic syndrome and hence this aspect should be considered while in diagnostic dilemma regarding such a clinical presentation.

Digital Gangrene an Unusual Presentation of Takayasu's Arteritis.

CONTEXT: Takayasu arteritis (TA) is a chronic inflammatory disease involving large vessels like aorta and its major branches. It presents to clinician with features of arm claudication, stroke, asymmetrical pulse, or asymmetrical blood pressure in both limbs. Digital gangrene may be occurred secondary to various systemic diseases like diabetes, thrombophilic states, vascular embolism, and medium and small vessel vasculitis or infections. Through evaluation to diagnose the exact etiology and timely intervention is needed to prevent progression of the gangrene which at the time can be life-threatening. Digital gangrene as an initial presentation in TA is very rare. In medical literature, there are only few case reports have been reported. CASE REPORT: We are reporting a case of a 26-year-old female patient presented with right little finger and index finger gangrene, ultimately diagnosed as TA and responded dramatically to treatment. CONCLUSION: Though rare, TA should be taken in the differential diagnosis for work up in a case of digital gangrene and it necessitates more studies in this field to uncover the exact pathophysiology for such presentation.

A rare cause of seizures, parkinsonian, and cerebellar signs: brain calcinosis secondary to thyroidectomy.

CONTEXT: Post-thyroidectomy hypoparathyroidism presenting with Parkinsonian features and seizures with extensive intracranial calcifications is uncommon. Acquired intracranial calcification that affects structures other than the basal ganglia is rare. CASE REPORT: We report a case of a 45-year-old woman with a history of total thyroidectomy who presented with Parkinsonian features, cerebellar signs, and seizures. Brain imaging revealed extensive intracranial calcifications secondary to long-standing hypoparathyroidism. The patient was treated with intravenous (IV) calcium gluconate therapy and shifted to oral calcium and calcitriol therapy. Her symptoms improved markedly. At four months of follow up, the patient had not suffered another episode of seizure and was being gradually weaned off anti-Parkinsonian therapy. CONCLUSION: This case describes the rare finding of extensive intracranial calcifications in a case of iatrogenic hypoparathyroidism secondary to thyroidectomy with its wide array of features and its remarkable response to restoration of calcium levels to normal limits.

Microwave-induced enzyme-catalyzed chemoselective reduction of organic azides.

A lipase enzyme, suspended in organic media along with organic azides and irradiated under microwaves, enhances the reaction rate over thermal heating and affords the corresponding amines in high yields. The present biocatalytic method employing lipase is a significant development with remarkable regio- and chemoselectivity under microwave irradiation in organic media with excellent yields for the reduction of azide functionality.