Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy

Pediatric epilepsy comprises chronic neurological disorders characterized by recurrent seizures. Sodium valproate is one of the common antiseizure medications used for treatment. Glucuronide conjugation is the major metabolic pathway of sodium valproate, carried out by the enzyme uridine 5′-diphosphate (UDP) glucuronosyl transferase (UGT) whose gene polymorphisms may alter the clinical outcome. The objective of this study was to assess the association between UGT1A6 genetic polymorphism and clinical outcome in terms of efficacy and tolerability in pediatric epileptic patients on sodium valproate monotherapy. Pediatric epileptic patients (n=65) aged 2-18 years receiving sodium valproate monotherapy for the past one month were included. Genetic polymorphism patterns of UGT1A6 (T19G, A541G, A552C) were evaluated by PCR-RFLP. Clinical outcome was seizure control during the 6 months observation period. Tolerability was measured by estimating the hepatic, renal, and other lab parameters. Out of 65 patients, TT (40%), TG (57%), and GG (3%) patterns were observed in UGT1A6 (T19G) gene, AA (51%), AG (40%), and GG (9%) in (A541G) gene, and AA (43%), AC (43%), and CC (14%) in (A552C) gene. No statistical difference in clinical outcome was found for different UGT1A6 genetic polymorphism patterns. We concluded that different patterns of UGT1A6 genetic polymorphism were not associated with the clinical outcome of sodium valproate in terms of efficacy and tolerability. Sodium valproate was well-tolerated among pediatric patients with epilepsy and can be used as an effective antiseizure medication.     

Sleep disorders in children with cerebral palsy and its correlation with sleep disturbance in primary caregivers and other associated factors

Aims:

To observe prevalence of sleep disturbance (SD) in cerebral palsy (CP) children in a specific age-group and its correlation with SD in primary caregivers and other associated factors.

Materials and Methods:

This was a prospective cross-sectional study. SD assessed using Sleep Disturbance Scale for Children (SDSC) in CP children and Pittsburgh Sleep Quality Index (PSQI) in caregivers. Fifty cases of clinically diagnosed CP [27 females, mean age: 107.9 ΁ 29.5 months (range: 78-180 months)] fulfilling criteria were included.

Results:

Eighteen (36%) children had pathological sleep total score (TS) and Disorders of Initiating and Maintaining Sleep (DIMS) was the commonest SD (n = 25, 50%). All primary caregivers were mothers. Twenty-five (50%) mothers had SD on PSQI scale. DIMS, Disorders of Excessive Somnolence (DES), and TS had significant correlation with PSQI (P < 0.05). Disorders of Arousal (DA) and TS had significant correlation with seizures (P < 0.05) in CP children. Bed-sharing had significant correlation with SD in caregivers (P < 0.001) but not with CP children. No significant correlation was observed between SD in CP and gross motor function (Gross Motor Function Classification System), use of orthoses, and dental caries.

Interpretation:

Children with CP have underreported significant SD, which negatively impacts caregiver''s sleep also. Seizure disorders and medications contribute significantly to SD.     

Detection of Multi Drug Resistant Bacteria in Retail Fish Market Water Samples of Vashi,Navi Mumbai

Proceedings of the National Academy of Sciences, India Section B: Biological Sciences - Occurrence of faecal indicator bacteria (FIB) is being reported regularly by various researchers. But there...     

Gastrostomy, esophagitis, and gastrointestinal bleeding in older adults

INTRODUCTION: Percutaneous endoscopic gastrostomy tubes (PEG) are commonly used in older adults with dysphagia and poor nutrition. The association of PEG with upper gastrointestinal bleeding (UGIB) and role of gastroesophageal reflux disease (GERD) in relation to UGIB in patients with PEG are not well known. METHODS: We conducted a retrospective analysis of older patients with PEG, hospitalized for UGIB, during a 1-year period between 1997 and 1998. The study was performed in a university teaching hospital involving residents from long-term care facilities (LTCF) of the Bronx. RESULTS: A total of 38 patients with PEG were admitted for UGIB; 28 were evaluated with upper endoscopy. The mean age of the group who underwent endoscopy was 83.4 +/- 9.2 years, with 18 females and 10 males. In the same group, 13 patients were on H2 blockers and 4 patients used nonsteroidal antiinflammatory drugs before hospitalization. None of the residents were on proton pump inhibitors. The most common upper endoscopic findings were esophagitis, either alone (11 patients) or in association with other lesions (10 patients). Esophagitis predominantly involved the lower third of the esophagus. Other significant findings on endoscopy were gastric and duodenal ulcers, gastritis, and gastric erosions either alone or in combinations. CONCLUSIONS: Esophagitis is a common occurrence and a significant contributor for UGIB in patients with PEG. Use of H2 blockers does not appear to be an effective preventive measure for UGIB in these patients.