Search

Background: The spectrum of neurological diseases encompasses a large number of disorders, including neuromuscular disorder (NMDs), ataxias, and muscular dystrophies. A detailed clinical examination, followed by electromyography and muscle biopsy, is a traditional diagnostic approach. However, it is never helpful in the identification of the subgroups of either neuropathies or muscular dystrophies apart from being a painful procedure. Aim: The present study was to assess the diagnostic yield of next-generation sequencing (NGS) in the diagnosis of neurological disorders. Materials and Methods: It was a cross-sectional study where consecutive neurological patients for whom NGS was done were included. These variants were classified as pathogenic/likely pathogenic, variants of uncertain significance (VUS), likely benign and benign. Results: Among the 45 cases included, 31 variants were identified in 30 genes, and in 15 patients, no variants were detected. Among 31 variants, 14 were previously reported for the causal of neurological disorder, including NMD, whereas 16 were novel variants (14 missense, 1 frameshift, and 1 splice donor). A definite molecular diagnosis was achieved in 21 cases that were either pathogenic/likely pathogenic, whereas 9 came to be VUS; however, the clinical manifestations correlated well. The phenotype-based sequencing showed a high diagnostic yield of 66% in the present study. Conclusion: NGS improves diagnostic efficiency with quicker and earlier diagnosis. In addition, it is a reliable and noninvasive technique that is effective in the detection of single nucleotide polymorphisms and small deletions.

Background: Cerebral venous sinus thrombosis (CVST) accounts for 10%–20% of strokes in young persons. In India, CVST accounts for around 30% of all strokes. The majority of CVSTs are caused by procoagulant circumstances, with pregnancy and early puerperium being well-established risk factors. The study aimed to look into the clinical profile, radiological characteristics, etiological variables, and outcome of CVST in venous stroke patients admitted to a tertiary care facility. Methods: We included individuals between the ages of 18 and 75 years who had a cerebral venous thrombosis (CVT) diagnosis confirmed by magnetic resonance imaging (MRI) + magnetic resonance venography computed tomography (CT) plus CT venography. The research included all individuals suspected of having CVST with or without particular neurological deficits and a confirmed imaging diagnosis. Patients were removed in situations of ambiguous neuroimaging, arterial strokes, space-occupying lesions, metabolic encephalopathy, and patient reluctance to participate. Results: This study included 82 patients, 21 (25.6%) males and 61 (74.4%) of whom were females. The most common presenting symptom was headache (79.2%), followed by vomiting (54.8%) and abnormal sensorium (35.3%). In this study, 34/82 (41.4%) patients had evident clinical triggers and were classified as induced CVT. Para infectious disease was recognized as a risk factor for CVT in 13/34 (38.2%) patients. A prothrombotic conditions could be established in 48 (58.5%) of these patients. Conclusion: CVST is a treatable and reversible cause of stroke in adolescents. The clinical presentation varies greatly, and symptoms may appear gradually over weeks or months. Although it is still an uncommon cause of headache and stroke, MRI has allowed for early detection.

Background: It is becoming widely understood that evaluating a patient’s quality of life (QOL) is crucial to managing their epilepsy. The study aimed to explore the impact of sociodemographic, clinical, and pharmacotherapy factors on QOL in patients with epilepsy. Methods: This was a cross-sectional study conducted over 2 years at the outpatient and inpatient Department of Medicine (Neurology Division) of SMHS Hospital, affiliated with Government Medical College, Srinagar. The patients with epilepsy with a definite diagnosis of epilepsy as per the International League Against Epilepsy (ILAE) guidelines were included. Results: Patients on polytherapy had significantly lower scores for overall QOL, energy/fatigue, medication effects, social functioning, and overall score. Patients on monotherapy scored significantly lower for the said domains, including the seizure worry domain, compared to those patients with epilepsy who were antiepileptic drugs (AEDs) naive. Conclusion: Individuals who were receiving monotherapy had greater QOL scores than those who were receiving traditional AEDs and had focal epilepsy. Furthermore, in patient with epilepsy, all QOL domains were significantly predicted by increased seizure frequency and the presence of adverse drug reactions (ADRs).

Background and Aim: The World Health Organization estimated that 15 million people throughout the world suffer stroke every year. Only 5%–10% of all acute ischemic stroke (AIS) patients presenting to emergency departments (EDs) are eligible for and receive thrombolytic therapy. This study was conducted to assess and compare the efficacy and safety profile of thrombolysis with tenecteplase (TNK) with that of alteplase among patients with AIS who were eligible for thrombolysis. Materials and Methods: This was a hospital-based prospective observational study. All the patients who presented with AIS within the time window period of ≤4.5 h to ED of Sher-i-Kashmir Institute of Medical Sciences, Soura, from September 2018 to March 2021, were screened for eligibility of thrombolysis by TNK. A total of 76 patients were enrolled; among which 42 were thrombolysed with TNK and 34 patients were thrombolysed with alteplase. These data were compared with departmental data of patients thrombolysed by alteplase during July 2015–July 2017. Inclusion and exclusion criteria used in the study were as per the American Heart Association/American Stroke Association guidelines for thrombolysis. Efficacy and safety were assessed and compared of the two drugs. Results: After 24 h of thrombolysis, early neurological improvement occurred in 62% of TNK patients compared to only 35% of patients from alteplase group, which was significant statistically (P < 0.05). An excellent functional outcome, defined as the Modified Rankin Scale (mRS) of 0–1 at 3 months of discharge, was seen in 67.6% of TNK and 48.5% of alteplase group. A poor recovery, defined as the mRS of 4–6 at 3 months of follow-up, was seen in 16% and 21% in TNK and alteplase group patients, respectively. Conclusion: TNK appears to be characterized by a better safety and efficacy profile than alteplase; however, further multicenter studies and randomized controlled trials are required to confirm our preliminary findings.

Background: A stroke is defined by the rapid emergence of clinical symptoms and focuses on evidence (applicable to individuals in a deep coma and those with subarachnoid hemorrhage) or widespread brain damage. The study aimed to evaluate the clinical characteristics of patients with acute ischemic stroke in a tertiary care hospital in North India. Methods: By analyzing case files and conducting patient interviews, information on the patients was gathered and evaluated. The study's inclusion and exclusion criteria were based on the 2018 American Heart Association and American Stroke Association (AHA/ASA) thrombolysis guidelines for acute ischemic stroke. Recent major trauma or major surgery within 14 days not involving the head, seizure at the onset of stroke, systemic malignancy, and pregnancy were excluded. Results: The study enlisted the participation of 76 patients who were divided into two groups. Patients in the one group were given tenecteplase, whereas the other group were given alteplase. Patients in the tenecteplase and alteplase groups were of different ages and had various other risk factors for hypertension, atrial fibrillation, diabetes, smoking, and previous stroke or transient ischemic attack. The risk factor distribution in both the groups was statistically significant for variables such as hypertension and diastolic blood pressure (P < 0.05). Stroke in internal carotid artery territory was present in 3 out of 42 in the tenecteplase group and 2 out of 32 in the alteplase group. Most patients in both the groups had a stroke of undetermined cause. Small vessel and large vessel strokes were found in 9.5% and 14.7%, respectively. Conclusion: In the development of stroke, there is a definite relationship between age and gender. A sedentary lifestyle, food, and obesity are risk factors for stroke. According to an AHA/ASA drug utilization analysis, most medicines were appropriate for stroke patients.

Objectives: The objective of the study was to assess the mechanical and nonmechanical complications in patients with end-stage renal disease (ESRD) undergoing continuous ambulatory peritoneal dialysis (CAPD) and to access the contributing factors to improve the patient's survival and reduce morbidity and mortality. Materials and Methods: This observational study was carried out on 121 patients with ESRD undergoing CAPD at the Nephrology Unit of SKIMS, Srinagar, Jammu and Kashmir, India. We retrospectively reviewed the medical records of 121 CAPD patients, in which a double-cuffed straight Tenckhoff catheter was inserted using surgical technique from July 2012 to July 2016. Results: The mean age of the study patients was 45 ± 11.5 years. Males outnumbered female, with a ratio of 1.42:1. The most common etiology for ESRD was diabetes mellitus (38.84%), followed by hypertension (30.57%) and chronic glomerulonephritis (18.18%). About three-fourth of the study patients (77.19%) were on CAPD therapy for more than 6 months showing better acceptability of CAPD therapy. Peritonitis was the most common nonmechanical complication and was seen in 45.45% patients. 14.04% patients had recurrent episodes of peritonitis. Catheter-related complications are early encountered and are mostly due to faulty technique. Conclusion: The complications associated with CAPD are diverse and most of the mechanical complications are catheter related and often result from errors made during catheter implantation. Furthermore, the presence of comorbid factors plays a provital role in exacerbating these complications. Proper evaluation of the patient, care during catheter insertion, and postoperative period can markedly reduce most of these complications and reduce mortality and morbidity associated with CAPD.

Introduction: Limited data is available on prevalence of extrapancreatic infection, its influence on outcome of pancreatitis. Objectives: To assess the prevalence of extra-pancreatic infections in acute pancreatitis, identify risk factors for development of such infections and influence of extrapancreatic infections on outcome of pancreatitis. Methodology: Patients of acute pancreatitis admitted from June 2013 to July 2015 were recruited in the study. The patients who developed extra-pancreatic infection formed the study group while patients who didn’t develop infections were included in the control group. Both groups were followed and their final outcome was compared. Results: A total of 350 patients comprising of 158 cases and 192 controls were studied. Prevalence of extra pancreatic infections was found in 41.5% with Urinary tract infections (UTI)(14.4 followed by Biliary (10.0%), pulmonary (8.4%), Pulmonary and UTI (3.7%),Injection site infections (2.1%). Predisposing factors for development of extra pancreatic infections and subsequent outcome of acute pancreatitis was found to be influenced by duration of hospital stay (p