Introduction:A paucity of literature exists on genotype-phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying potential disease causing variants in electro-clinical phenotypes of DEE Methods:An observational hospital-based study was undertaken on children with unexplained refractory seizure-onset ≤12 months age and developmental delay, whose families consented and underwent genetic testing during a three year time period (2016)(2017)(2018) by next-generation sequencing (NGS) or multiplex ligand protein amplification. Yield was considered based on demonstration of pathogenic/likely pathogenic variants only and variants of unknown significance (VUS) were documented. Results:Pathogenic/likely pathogenic variants were identified in 26 (31.7%) out of 82 children with DEE. These included those variants responsible for primarily DEE-21(76.7%); neuro-metabolic disorders-3(18.6%) and chromosomal deletions-2(4.7%). Of these patients, early-infantile epilepsy onset ≤ 6months age was noted in 22(84.6%). The DEE studied included Ohtahara syndrome associated with STXBP1 and SCN8A variants with yield of 50% (2/4 tested); early myoclonic encephalopathy (no yield in 2); West syndrome with CDKL5, yield of 13.3% (2/15 tested); epilepsy of infancy with migrating partial seizures due to CACNA1A and KCNT1 variants, yield of 67% (2/3 tested); DEE-unclassified with KCNQ2, AP3B2, ZEB2, metabolic variants (SUOX, ALDH7A1, GLDC) and chromosome deletions (chr 1p36, chr2q24.3); yield of 32% (8/25 tested). Patients with Dravet syndrome/Dravet-like phenotypes (N=33) had variants in SCN1A (N=10), SCN1B, CHD2; yield of 36.4% (12/33 tested; 57.1% from NGS). Eighteen patients with potential variants (SCN1A, SCN2A, SCN8A, KCNQ2, ALDH7A1 which also included VUS) could be offered targeted therapy. Conclusions:Our study confirms a good yield of genetic testing in neonatal and infantile-onset DEE provided robust phenotyping of infants is attempted with prognostic and therapeutic implications, particularly relevant to centres with resource constraints.

<b><i>Background:</i></b> The impact of gender on acute ischemic stroke, in terms of presentation, severity, etiology, and outcome, is increasingly getting recognized. Here, we analyzed the gender-related differences in etiology and outcome of ischemic stroke in South India. <b><i>Methods:</i></b> Patients with first ever ischemic stroke within 1 week of onset presenting to the Comprehensive Stroke Care Centre, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India, were included in our study. Clinical and risk factor profile was documented. The stroke severity was assessed using the National Institutes of Health Stroke Scale (NIHSS) at onset, and stroke subtype classification was done using Trial of Org 10172 in Acute Ischemic Stroke criteria. The 3-month functional outcome was assessed using the modified Rankin Scale (mRS) with excellent outcome defined as an mRS ≤2. <b><i>Results:</i></b> Of the 742 patients, 250 (33.7%) were females. The age, clinical profile, and rate of reperfusion therapies did not differ between the genders. Women suffered more severe strokes (mean NIHSS 9.5 vs. 8.4, <i>p</i> = 0.03). While large artery atherosclerosis was more common in men (21.3% vs. 14.8%, <i>p</i> = 0.03), cardioembolic strokes secondary to rheumatic heart disease were more common in women (27.2% vs. 19.7%, <i>p</i> = 0.02). Men had a better 3-month functional outcome compared to women (68.6% vs. 61.2%, <i>p</i> = 0.04), but was not statistically significant after adjusting for confounders. <b><i>Conclusion:</i></b> Our data, from a single comprehensive stroke unit from South India, suggest that stroke in women are different, yet similar in many ways to men. Guideline-based treatment can result in comparable short-term outcomes, irrespective of admission stroke severity.

Transverse myelitis is a rare neurological complication seen with varicella-zoster virus (VZV) infection, which is common among immunocompromised hosts. It can occur during the primary VZV infection or reactivation of latent infection. It is a complication that requires prompt diagnosis and treatment. The present case is that of a 28-year-old immunocompetent man, who presented with fever, rash and acute-onset spastic paraparesis with bladder involvement. Causes such as herpes simplex 1 and 2, cytomegalovirus, enterovirus and Epstein-Barr virus infection were ruled out. On evaluation, he was diagnosed with acute primary disseminated VZV infection with parainfectious transverse myelitis, based on positive cerebrospinal fluid multiplex PCR (PCR) and serum VZV IgM antibodies. He was treated with intravenous acyclovir and steroids, with which he improved significantly.

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Background: Obstructive sleep apnea (OSA) is reported in a high proportion of cardiac surgical patients, up to 73%. STOP-BANG is a validated questionnaire for screening of outpatients for OSA with high sensitivity. There is sparse literature from India regarding the prevalence of OSA in preoperative cardiovascular patients and the utility of screening tools. Aims: We sought to study the utility of the STOP-BANG questionnaire as a screening tool for OSA in cardiovascular patients validating it with ambulatory level 3 polysomnography. Materials and Methods: It was a prospective study where consecutive patients getting admitted for coronary artery bypass surgery (CABG) from August 2017–February 2019 were recruited. All the patients were screened with the STOP-BANG questionnaire. 53 patients underwent overnight level 3 polysomnography using Apnea-Link. Correlations were made between clinical symptoms, STOP-BANG score, and OSA severity, measured using Apnea hypopnea index (AHI). Results: We had 120 patients(103 males) with a mean age 60 years. Snoring was the most common sleep complaint. Our cohort had a high prevalence of vascular risk factors (DM 72.3%, hypertension 59.2%, dyslipidemia 60%) and 11.7% were obese (BMI >30). The median STOP-BANG score was 3 (IQR 2) with 83 having scores ≥3. Median AHI was 5.6 with AHI ≥5 in 28 patients and AHI 15 or above in 14 patients. Among the clinical parameters, arousals with respiratory difficulty at night, higher neck circumference, and tonsillar hypertrophy showed a significant association with PSG-proven OSA.STOP-BANG scores 3 or above had a sensitivity of 75% in predicting OSA. Conclusions: Our study shows that in cardiovascular patients less symptomatic for sleep complaints, the STOP-BANG questionnaire is a useful screening tool for OSA in outpatient settings. Among clinical parameters, airway narrowing and neck circumference can predict OSA.