Targeted metabolomics in children with autism spectrum disorder with and without developmental regression.

Early diagnosis and intervention in children with autism spectrum disorder (ASD) is crucial. At present, diagnosis of ASD is primarily based on subjective tools. Identifying metabolic biomarkers will aid in early diagnosis of ASD complementing the assessment tools.

Exploring the role of altered oxi-inflammasome activity in the immunobiology of inflammatory neuropathies.

Objectives: Inflammasome plays a significant role in inflammatory responses. The role of inflammasome and its interactions with oxidative stress markers has not been examined in inflammatory neuropathies like Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). This study aims to explore the roles of inflammasome and oxidative stress pathways in inflammatory neuropathies.

Exploring the role of the IL-12/IFN-γ immune axis in subacute sclerosing panencephalitis.

Background: Subacute sclerosing panencephalitis (SSPE) is a rare but fatal neurological syndrome resulting from persistent measles virus infection in the central nervous system. Despite the availability of a measles vaccine, SSPE continues to pose a significant health burden, and immunogenetic risk factors remain unclear. We aimed to study the role of the interleukin 12 (IL-12)/interferon-gamma (IFN-γ) axis, known for it's significance in antiviral defense, in the development of SSPE.

Clinical Reasoning: Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia.

A 16-year-old adolescent girl presented with progressive walking imbalance, uncoordination of her limbs, impaired proprioceptive sensation distal to her wrists and ankles, and sensorineural hearing loss. Her evaluation revealed diffuse cerebellar atrophy, a demyelinating neuropathy, and hypergonadotropic hypogonadism. In this article, we present a systematic approach to a patient with early-onset ataxia, cerebellar atrophy, and demyelinating neuropathy.

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.

Sleep in Myasthenia Gravis: A Questionnaire-Based Study.

Background: Disturbed sleep and its impact on quality of life (QoL) are underrecognized in myasthenia gravis (MG).

Aims: To evaluate the quality of sleep in MG using standard sleep questionnaires and assess factors that determine sleep.

Settings And Design: Prospective, cross-sectional, hospital-based study.

Clinicopathological Features of Amyloid Neuropathy: A Four Decade Experience.

Background: Peripheral neuropathy is one of the manifestations of primary or familial amyloidosis. Published studies from India are limited.

Materials And Methods: We reviewed the clinical and pathological features of amyloid neuropathy diagnosed at our Institute over the last 39 years.

Synergistic effects of immune checkpoints and checkpoint inhibitors in inflammatory neuropathies: Implications and mechanisms.

Immune checkpoint molecules play pivotal roles in the regulation of immune homeostasis. Disruption of the immune checkpoints causes autoimmune/inflammatory as well as malignant disorders. Over the past few years, the immune checkpoint molecules with inhibitory function emerged as potential therapeutic targets in oncological conditions.

Characterisation of Patients with Associated Neuropathy in an Indian Cohort.

Background: SH3TC2 variations lead to demyelinating recessive Charcot-Marie-Tooth (CMT) disease, which is commonly associated with early-onset scoliosis and cranial neuropathy. Data from Indian ethnicity is limited.

Objective: We aim to report the characteristics of patients with SH3TC2-associated neuropathy from an Indian cohort.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

Impact of COVID-19 on Guillain-Barre Syndrome in India: A Multicenter Ambispective Cohort Study.

Introduction/aims: Studies conducted during the coronavirus disease 2019 (COVID-19) pandemic have reported varied data regarding the incidence of Guillain-Barre syndrome (GBS). The present study investigated demographic and clinical features, management, and outcomes of patients with GBS during a specified period of the COVID-19 pandemic, and compared these features to those of GBS in the previous year.

Methods: A multicenter, ambispective cohort study including 26 centers across India was conducted.

Spectrum of Sensory Conduction Abnormalities in Guillain Barre Syndrome.

Background: Sensory nerve conduction parameters in Guillain Barre Syndrome (GBS) are underemphasized.

Objective: To describe abnormalities on sensory conduction studies in a large cohort of prospectively evaluated patients of GBS and to correlate with clinico-electrophysiological features.

Methods And Materials: Sensory conduction parameters of three nerves (median, ulnar, and sural) were analyzed using standard protocols in 238 patients (M: F 163:75, mean age: 35.

Efficacy of pulse intravenous methylprednisolone in epileptic encephalopathy: a randomised controlled trial.

Background: High-level evidence for using steroids in epileptic encephalopathy (EE), other than West syndrome (WS), is lacking. This study investigated the efficacy and safety of pulse intravenous methylprednisolone (IVMP) in EE other than WS.

Methods: This is an open-label evaluator-blinded randomised controlled study.

Rituximab in Myasthenia Gravis- Experience from a Low- and Middle-Income Country (LMIC) Setting.

Background: Myasthenia gravis (MG) is an immune-mediated disorder of the neuromuscular junction. About 10% are refractory to immunosuppressive therapy.

Aims: To analyze the response of patients with generalized MG to rituximab.