Functional variant rs9344 at 11q13.3 regulates CCND1 expression in multiple myeloma with t(11;14).

Multiple myeloma (MM) is a plasma cell (PC) malignancy characterized by cytogenetic abnormalities, such as t(11;14)(q13;q32), resulting in CCND1 overexpression. The rs9344 G allele within CCND1 is the most significant susceptibility allele for t(11;14). Sequencing data from 2 independent cohorts, CoMMpass (n = 698) and Mayo Clinic (n = 661), confirm the positive association between the G allele and t(11;14).

Superficial Cerebellar Siderosis and Spontaneous Intracranial Hypotension Secondary to Dural Tear.

Spinal dural tears are being increasingly recongnized to cause superficial siderosis and intracranial hypotension. We report a patient with chronic headache who was detected to have cerebellar superficial siderosis and subtle signs of intracranial hypotension on imaging. Spinal imaging showed an upper thoracic dural tear secondary to a paradiscal osteophyte.

Disparity in the detection of chromosome 15 centromere in patients of African ancestry with a plasma cell neoplasm.

Purpose: Fluorescence in situ hybridization (FISH) is the current gold standard assay that provides information related to risk stratification and therapeutic selection for individuals with plasma cell neoplasms. The differential hybridization of FISH probe sets in association with individuals' genetic ancestry has not been previously reported.

Methods: This retrospective study included 1224 bone marrow samples from individuals who had an abnormal plasma cell proliferative disorder FISH result and a concurrent conventional G-banded chromosome 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.

Cytochrome P450 Transcriptional Regulation by Testis-Specific Y-Encoded-Like Protein: Identification of Novel Upstream Transcription Factors.

Cytochrome P450s () display significant inter-individual variation in expression, much of which remains unexplained by known single-nucleotide polymorphisms (SNPs). Testis-specific Y-encoded-like proteins (s) are transcriptional regulators for several drug-metabolizing including However, transcription factors (TFs) that might influence expression through an effect on expression are unknown. Therefore, we studied regulators of expression in hepatic cell lines and their possible SNP-dependent variation.

Spontaneous Downbeat Nystagmus in Anti-GAD-Antibody-Associated Paraneoplastic Syndrome.

Spontaneous downbeat nystagmus and ocular flutter are rare clinical signs. Such findings are commonly related to cerebellar pathology, predominantly ischemia. In a significant percentage of patients, the cause may not be found.

Inflammatory Myositis in a Child due to Anti-NXP2 Antibody, First Case Report from India.

We present a case of a 10-year-old boy with 1-month history of proximal more than the distal weakness of all four limbs with myalgias, contractures, and bulbar symptoms on a background history of exertional myalgias for 2 years. His power was grade two-three. Investigations showed elevated creatine phosphokinase (CPK).

TRAF4 hyperactivates HER2 signaling and contributes to Trastuzumab resistance in HER2-positive breast cancer.

The HER2 receptor modulates downstream signaling by forming homodimers and heterodimers with other members of the HER family. For patients with HER2-positive breast cancer, Trastuzumab, an anti-HER2 monoclonal antibody as first-line therapy has shown significant survival benefits. However, the development of acquired resistance to Trastuzumab continues to be a significant obstacle.

Novel insights into the genetic profile of hereditary spastic paraplegia in India.

The Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by length dependent degeneration of the corticospinal tracts. Genetic data related to HSPs are limited from India. We aimed to comprehensively analyse the phenotypic characteristics and genetic basis of a large cohort of HSP from India.

Role of altered IL-33/ST2 immune axis in the immunobiology of Guillain-Barré syndrome.

Background: The IL-33/ST2 immune axis plays crucial roles in infection and immunity. A dysregulated IL-33/ST2 axis can induce autoimmune reaction and inflammatory responses. Guillain-Barré syndrome (GBS) is an acute peripheral neuropathy, mostly caused by post-infection autoimmunity.

Leukodystrophy Due to Mutations in Adults.

Vanishing white matter disease (VWMD) due to mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings.

Vogt-Koyanagi-Harada Syndrome - A Neurologist's Perspective.

Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations usually precede the involvement of other sites. Patients may manifest with "complete" or "incomplete" syndrome.

Clinical Profile and Treatment Response in Patients with CASPR2 Antibody-Associated Neurological Disease.

Background: The clinical spectrum of contactin-associated protein-like 2 (CASPR2) antibody-associated disease is wide and includes Morvan syndrome. Studies describing treatment and long-term outcome are limited.

Aims: We report the clinical profile and emphasize response to treatment and long-term outcome in eight patients with CASPR2-antibody-associated disease.

Electrical stimulation of co-woven nerve conduit for peripheral neurite differentiation.

Electrically stimulable nerve conduits are implants that could potentially be utilized in patients with nerve injury for restoring function and limb mobility. Such conduits need to be developed from specialized scaffolds that are both electrically conductive and allow neuronal attachment and differentiation. In this study, we investigate neural cell attachment and axonal differentiation on scaffolds co-woven with poly-(L-lactic acid) (PLLA) yarns and conducting threads.

Withania somnifera (Indian ginseng) in diabetes mellitus: A systematic review and meta-analysis of scientific evidence from experimental research to clinical application.

Withania somnifera Dunal, also known as Indian ginseng, has been in use since ancient times in the management of diabetes mellitus (DM). This systematic review and meta-analysis evaluated the efficacy/effectiveness, safety and tolerability of W. somnifera in managing DM.

Withania somnifera (Indian ginseng) in male infertility: An evidence-based systematic review and meta-analysis.

Background: Withania somnifera Dunal, commonly known as Indian ginseng, has been in use since ancient times as anti-stress agent, aphrodisiac, for impotence and infertility treatment.

Purpose: To evaluate the efficacy and safety of W. somnifera treatment in infertile men.