DAT1 3'-UTR 9R allele: preferential transmission in Indian children with attention deficit hyperactivity disorder.

Genetic alterations in the dopaminergic system are frequently observed in association with attention deficit hyperactivity disorder (ADHD) and a 40 bp variable number of tandem repeats (VNTR) in the 3'-untranslated region (3'-UTR) of the dopamine transporter gene (DAT1) has been investigated in different populations. Both significant association and lack of association with the10 repeat allele (10R) of DAT1 VNTR have been reported. Objective of the present investigation was to examine association of this polymorphism with ADHD in Indian children. Genotypic data obtained from ADHD probands (n = 79), their parents (n = 148) and control individuals (n = 153) were analyzed for haplotype-based haplotype relative risk analysis (HHRR), transmission disequilibrium test (TDT), and family-based association test (FBAT). HHRR analysis revealed significant (P = 0.009) transmission of shorter alleles (< or =9R). TDT analysis of informative ADHD families (n = 32) also exhibited highly significant transmission of the shorter alleles (P = 0.002). Further analysis by FBAT showed preferential transmission (P = 0.019) of the 9R allele from parents to ADHD probands. It can be inferred from the data obtained that the DAT1 3'-UTR 9R allele may confer risk of ADHD in the Indian population.     

Schwannoma of the nose and paranasal sinuses

Sckhwannoma is a benign tumor arising from the Schwann cells of nerve sheath.Through they arise more commonly in the head and neck than other regions, a through search in the liturature including medline revealed only about 47 reported cases of schwannoma in the paranasal sinuses of which the maxillary sinus involvement is more common. We report three cases of schwannoma arising from unusual sites in the paranasal sinuses with different modes of presttation each requiring a specific approach for surgical excision Transnasal endoscopic approach in combination with vonventional approaches is of immense value in the surgical management of these benign lessions of the paranasal sinuses.     

Endoscopic KTP-532 laser assisted diverticulotomy for Zenker's diverticulum

Zenker's diverticulum, though counnon in western countries is uncommon in India. This diverticuham is an extension of umcosa through Killian's dehiscence. Various surgical methods have been described for the treatment of this condition including the use of lasers but none in Indian Journals. In this paper we describe a case of Zenker's diverticulum where diverticulotomy using KTP532 laser was successfully performed. Its advantages over other techniques are mentioned.     

Isoniazid Mediates the CYP2B6*6 Genotype-Dependent Interaction between Efavirenz and Antituberculosis Drug Therapy through Mechanism-Based Inactivation of CYP2A6

Efavirenz is commonly used to treat patients coinfected with human immunodeficiency virus and tuberculosis. Previous clinical studies have observed paradoxically elevated efavirenz plasma concentrations in patients with the CYP2B6*6/*6 genotype (but not the CYP2B6*1/*1 genotype) during coadministration with the commonly used four-drug antituberculosis therapy. This study sought to elucidate the mechanism underlying this genotype-dependent drug-drug interaction. In vitro studies were conducted to determine whether one or more of the antituberculosis drugs (rifampin, isoniazid, pyrazinamide, or ethambutol) potently inhibit efavirenz 8-hydroxylation by CYP2B6 or efavirenz 7-hydroxylation by CYP2A6, the main mechanisms of efavirenz clearance. Time- and concentration-dependent kinetics of inhibition by the antituberculosis drugs were determined using genotyped human liver microsomes (HLMs) and recombinant CYP2A6, CYP2B6.1, and CYP2B6.6 enzymes. Although none of the antituberculosis drugs evaluated at up to 10 times clinical plasma concentrations were found to inhibit efavirenz 8-hydroxylation by HLMs, both rifampin (apparent inhibition constant [K_i] = 368 μM) and pyrazinamide (K_i = 637 μM) showed relatively weak inhibition of efavirenz 7-hydroxylation. Importantly, isoniazid demonstrated potent time-dependent inhibition of efavirenz 7-hydroxylation in both HLMs (inhibitor concentration required for half-maximal inactivation [K_I] = 30 μM; maximal rate constant of inactivation [k_inact] = 0.023 min⁻¹) and recombinant CYP2A6 (K_I = 15 μM; k_inact = 0.024 min⁻¹) and also formed a metabolite intermediate complex consistent with mechanism-based inhibition. Selective inhibition of the CYP2B6.6 allozyme could not be demonstrated for any of the antituberculosis drugs using either recombinant enzymes or CYP2B6*6 genotype HLMs. In conclusion, the results of this study identify isoniazid as the most likely perpetrator of this clinically important drug-drug interaction through mechanism-based inactivation of CYP2A6.     

A Comparison of Microdebrider Assisted Endoscopic Sinus Surgery and Conventional Endoscopic Sinus Surgery for Nasal Polypi

Nasal polyposis is often encountered in rhinology practice. Those who fail conservative management, a definitive surgery is essential to achieve sufficient ventilation and drainage of the affected sinuses by using either microdebrider or conventional instruments for functional endoscopic sinus surgery (FESS). A prospective study was conducted on 40 cases of nasal polypi in a tertiary care hospital. 20 cases were operated by conventional endoscopic instruments and 20 using the microdebrider. The study aimed at comparing the intra operative (blood loss, duration of surgery) and post operative results (crusting, scarring, discharge, symptoms, recurrence) between the two groups using Lund–Mackay scoring system and the data was statistically analysed. There was no statistically significant difference in surgical outcome for patients when either conventional endoscopic instruments or microdebrider was used. However, there was a significant symptomatic improvement in cases undergoing microdebrider FESS. Microdebrider assisted polypectomy is precise, relatively bloodless surgery though the precision depends on the surgeon’s anatomical knowledge and operative skills. Study substantiates that these instruments are helpful but not a prerequisite for successful outcomes in FESS. The study re-emphasises the utility of the microdebrider to young learning FESS surgeons.     

Prevalence of malnutrition in a tertiary care hospital in India

Introduction:

Malnutrition adversely affects clinical outcome of hospitalized patients. This observational prospective study was done to assess the prevalence of malnutrition and its grade among patients admitted in a mixed intensive care unit (ICU) of a tertiary care hospital in order to help devise a comprehensive nutrition program for the malnourished.

Materials and Methods:

A total of 500 sequential patients admitted to the ICU were screened on admission over a year period for malnutrition using the Subjective Global Nutritional Assessment (SGNA) score. Distribution of the degree of malnutrition according to co-morbidities was also documented.

Results:

Of the total, 198 (39.6%) patients were malnourished, including one patient qualifying as severely malnourished; 68% patients were male, however, there was no statistically significant difference between nutrition status between sexes. Hypertension, diabetes, and cancer were the three most commonly encountered co-morbidities among the malnourished. A total of 86% of all cancer patients admitted were malnourished against only 12% of trauma patients.

Conclusion:

This study showed that almost two-fifth of the patients admitted were malnourished in this tertiary care hospital and that there is an urgent need to develop a comprehensive nutritional care program in many such Indian ICUs.     

Quantifying the Effects of Aging on Morphological and Cellular Properties of Human Female Pelvic Floor Muscles

Annals of Biomedical Engineering - Age-related pelvic floor muscle (PFM) dysfunction is a critical defect in the progression to pelvic floor disorders (PFDs). Despite dramatic prevalence of PFDs in...     

Breast carcinoma with metastasis to the gallbladder:an unusual case report with a short review of literature

Gallbladder metastases are very rare and usually arise from malignant melanoma, renal cell carcinoma and cervical carcinoma. Breast carcinoma tnetastatic to the gallbladder is extremely rare and only 4 cases have been reported in the English literature. We hereby report a 54-year-old lady who was diagnosed as having breast carcinoma and underwent modified radical mastectomy. One month after the operation, she developed acute abdomenal pain and underwent cholecystectomy after clinical investigation. Histopathological examination revealed metastasis to the gallbladder. Being considered a patient with tnetastatic breast carcinoma she was subjected to taxane and anthracycline-based palliative chemotherapy. Later she had CNS involvement and died of the progressive disease soon after few months.