Statement Of The Problem: Oral squamous cell carcinoma (OSCC) is the most common type of oral cancer. During the invasion, tumour cells break through the basement membrane and penetrate the connective tissue to interact with the extracellular matrix. An attempt was made to evaluate the connective tissue changes in different grades of OSCCs, oral submucous fibrosis (OSMF) and Oral Epithelial Dysplasias.
View Article and Find Full Text PDFAutoimmune hepatitis (AIH) is a distinct clinical entity with variable presentations and diverse clinical outcomes, characterized by autoimmune-mediated injury to the liver. The detection of autoantibodies and histological features consistent with autoimmune injury is crucial for diagnosing AIH. Early identification and treatment are essential to prevent progression to cirrhosis.
View Article and Find Full Text PDFMitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFBackground And Objectives: Psychosis is one of the major neuropsychiatric non-motor symptoms of Parkinson's disease (PD). Prolonged latency and decreased amplitude of the P300 event-related potential (ERP) is a potential neurophysiologic biomarker of deeper neurocognitive deficits in PD. We aimed to characterize electroencephalogram (EEG)/ERP parameters in PD patients with and without psychosis (PDP and PDNP, respectively), and to determine if such measures could act as endophenotypes for PD-associated psychosis (PDP).
View Article and Find Full Text PDFThe molecular mechanisms underpinning the formation of the large, ellipsoidal starch granules of potato tuber are poorly understood. Here, we demonstrate the distinct effects of PROTEIN TARGETING TO STARCH2b (PTST2b) and MYOSIN RESEMBLING CHLOROPLAST PROTEIN (MRC) on tuber starch granule morphology. A gene duplication event in the Solanaceae resulted in two PTST2 paralogs (PTST2a and PTST2b).
View Article and Find Full Text PDFBackground: A key factor in the propagation of α-synuclein pathology is the compromised protein quality control system. Variations in membrane association and astrocytic uptake between different α-synuclein forms suggest differences in exocytosis or membrane cleavage, potentially impacting the secretome's influence on dopaminergic neurons. We aimed to understand differences in protein degradation mechanisms of astrocytes for both wild-type (WT) and mutant forms of α-synuclein, specifically during periods of reduced degradation efficiency.
View Article and Find Full Text PDFSeed vigour and longevity are intricate yet indispensable physiological traits for agricultural crops, as they play a crucial role in facilitating the successful emergence of seedlings and exert a substantial influence on crop productivity. Transcriptional regulation plays an important role in seed development, maturation, and desiccation tolerance, which are important attributes for seed vigour and longevity. Here, we have investigated the regulatory role of the seed-specific DNA-binding with One Finger (DOF) transcription factor and the rice prolamin box binding factor (RPBF) in seed vigour.
View Article and Find Full Text PDFObjective: To explore sleep patterns in individuals with Essential Tremor (ET) and Essential Tremor Plus (ET-Plus), compared to healthy controls, and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods: We conducted a prospective cross-sectional study at NIMHANS, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using TETRAS and FTMTRS, and sleep symptoms with ESS, PSQI, Mayo Sleep Questionnaire, RLS-Q, BQ, GAD-7 and PHQ-9.
Parkinsonism Relat Disord
December 2024
World J Clin Pediatr
September 2024
Background: The neonatal intensive care unit (NICU) is vital for preterm infants but is often plagued by harmful noise levels. Excessive noise, ranging from medical equipment to conversations, poses significant health risks, including hearing impairment and neurodevelopmental issues. The American Academy of Pediatrics recommends strict sound limits to safeguard neonatal well-being.
View Article and Find Full Text PDFBACKGROUND: Wilson disease (WD) is a rare disease characterized by impaired copper metabolism. It is usually diagnosed in children and has several distinct attributes that can make the caregiving experience different. The advanced stage of the illness is quite challenging, and caregiver experiences during this phase of the disease are underexplored.
View Article and Find Full Text PDFBackground Multiple system atrophy (MSA) is a rare, adult-onset neurodegenerative disorder marked by autonomic failure, parkinsonism, and cerebellar ataxia, with subtypes classified as parkinsonian (MSA-P), cerebellar (MSA-C), and autonomic (MSA-A). This study aims to identify MRI biomarkers for MSA and their correlation with disease severity. Methodology A total of 30 patients with probable MSA (20 MSA-C, 10 MSA-P) aged 45-65 years were studied.
View Article and Find Full Text PDFParkinsonism Relat Disord
December 2024
Objective: Recessive variants in the PINK1 gene are known causes of early-onset Parkinson's disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson's disease (PARK-PINK1) mutations.
Methods: We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.
Mov Disord Clin Pract
November 2024
Objective: In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Methods: We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.
Tremor Other Hyperkinet Mov (N Y)
August 2024
Background: Despite being the second most common type of neurodegeneration with brain iron accumulation, there is limited literature on -associated neurodegeneration (PLAN) within the Asian ethnicity, particularly in the Indian context.
Methods: We conducted a retrospective observational study on patients with pathogenic/likely pathogenic variants based on exome sequencing.
Results: We identified 26 patients (22 families, 15 males) of genetically-confirmed PLAN with a median age of 22.