Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.

Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy.

A Real-World Experience of Rituximab: A Panacea in Therapy of Multiple Sclerosis in Low- and Middle-Income Settings.

Background: Anti-CD20 monoclonal antibodies have received increasing attention in the past few years in the treatment of multiple sclerosis (MS).

Objectives: This study describes the (i) efficacy and safety of rituximab in people living with MS and (ii) assesses clinical and imaging outcomes following rituximab in MS.

Method: This is a chart review from the MS registry maintained at the institute from a University Hospital in South India.

Are monoclonals the only panacea for treatment of aquaporin-4 positive NMOSD? Experience from a low-&middle-income (LMIC) region.

Objective: A plethora of monoclonals have ushered up for NMOSD treatment. However, their limited availability and cost concerns poses a challenge for usage in developing nations. We compared relapse rates and disabilities among aquaporin-4 positive(AQP4+ve) patients on conventional immunosuppressants and rituximab in a tertiary referral center in southern India.

Outcomes of COVID-19 disease and its effect on disability in patients with multiple sclerosis and other allied demyelinating disorders.

Background: Coronavirus disease of 2019 (COVID-19) pandemic has posed challenges for clinicians with respect to questions regarding vulnerability of patients with chronic autoimmune diseases like Multiple Sclerosis (MS) and other demyelinating central nervous system (CNS) disorders.

Objectives: We assessed outcomes of COVID-19 disease among patients with CNS demyelinating disorders and its effect on neurological disability.

Methods: This was an electronic survey in which a structured questionnaire was distributed to patients registered with neuroimmunology and MS clinics at All India Institute of Medical Sciences, New Delhi, India.

Fatigue, chronic fatigue syndrome and migraine: Intersecting the lines through a cross-sectional study in patients with episodic and chronic migraine.

Objectives: Fatigue is a common symptom occurring in a variety of disorders. Chronic fatigue syndrome (CFS) is characterized by debilitating fatigue as the core symptom. The risk of CFS is nearly 1.

Impact of JME on quality of life: Does a well-controlled epilepsy also hamper the psychological wellbeing?

Purpose: Epilepsy is a stigmatizing disorder and its diagnosis can have important psychosocial consequences on individuals, severely impacting their quality of life(QOL). There are numerous studies which have seen an adverse impact on the psychosocial aspects of life in patients with intractable epilepsy. The aim of this study was to assess the QOL in adult and adolescent patients with JME, which is largely a well-controlled form of epilepsy.

COVID-19 vaccine associated demyelination & its association with MOG antibody.

Background: ChAdOx1-S (Covishield™/Vaxzervria, AstraZeneca) and BBV152 (Covaxin) SARS-CoV-2 vaccines are proven to be safe and effective, but rare complications have been reported.

Objective: To describe reports of central nervous system (CNS) demyelination following ChAdOx1-S and BBV152 vaccinations.

Methods & Results: We report 29 (17 female; mean 38 years) cases of CNS demyelination; twenty-seven occurred in temporal association with ChAdOx1-S vaccine; two in association with BBV152 vaccine.

Parkinson's disease in women: Mechanisms underlying sex differences.

Parkinson's disease is a neurodegenerative disease which is associated with different motor, cognitive and mood-related problems. Though it has been established that Parkinson's disease is less prevalent in women in comparison to men, the differences tend to diminish with the advancing age. Different genetic, hormonal, neuroendocrinal and molecular players contribute towards the differences in the Parkinson's disease pathogenesis.

Chest radiographs may assist in predicting the outcome in the early phase of Covid-19. UK district general hospital experience of Covid-19 first wave.

: Severe Acute Respiratory Syndrome coronavirus-2 (SARS-CoV-2) has caused enormous strain on health-care systems worldwide. Early recognition of prognostic markers and appropriate management of patients with coronavirus disease 2019 (Covid-19) remains a major global health concern, particularly when resources are limited. We undertook a study to see if basic tests can inform frontline clinicians of disease trajectory in individual patients with COVID-19.

Modulation of epileptiform EEG discharges in patients with JME.

Purpose: To study modulation of epileptiform EEG discharges in patients with JME.

Method: 50 subjects with JME underwent a sleep deprived EEG recording along with conventional provocative methods and testing with cognitive tasks (CTs). Both categories of tests were evaluated for their effect on occurrence of IEDs.

Preparation, characterization and evaluation of ranitidine hydrochloride-loaded mucoadhesive microspheres.

Background: Mucoadhesion enables localization of drugs to a defined region of the gastrointestinal tract through attractive interactions between polymers composing the drug delivery devices and the mucin layer of the intestinal epithelium. Thus, this approach can be used for enhancement of the oral bioavailability of the drug.

Objectives: The current communication deals with the development of ranitidine hydrochloride-loaded chitosan-based mucoadhesive microspheres.

Pre-emptive treatment for Clostridium tetani: importance of early recognition and treatment in the community.

The case of a 79-year-old woman with neurotoxin producing Clostridium tetani identified in a lower limb laceration that was promptly treated is presented; the patient developed no symptoms of tetanus. Her antibody levels were measured as 0.01 U/ml (protective levels >0.

Paralytic poliomyelitis 1976-1988: report from a Sentinel Centre.

Kalawati Saran Children's Hospital, New Delhi, is the Sentinel Centre for poliomyelitis in the Northern region and 52-76% of cases of acute poliomyelitis from the Union Territory of Delhi are registered here. In this paper, data from this hospital for the last 13 years is presented. A detailed analysis of 1874 cases seen during the year 1987 is also presented.

Spinal muscular atrophy: some easy clues to diagnosis.

Seven cases of benign form of spinal muscular atrophy were studied to evaluate the importance of detecting hand tremors, muscle fasciculation, evertion of foot and ECG tremors to distinguish these cases from muscular dystrophy. Taken in combination, diagnosis of all the seven cases was possible without the need for application of more sophisticated and invasive investigations, e.g.