Comparative efficacy of S2-alar-iliac versus iliac screw techniques in treating adult spinal deformity: a meta-analysis of postoperative outcomes and complications.

Pelvic fixation has become increasingly important in treating spinal deformities that affect the lumbosacral junction. The sacral 2 alariliac screw (S2AI) and iliac screw (IS) fixations are two commonly used techniques. This meta-analysis aimed to systematically compare the clinical outcomes of S2AI and IS techniques in adult spinal deformity.

Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?

Spinocerebellar ataxia (SCA27B), due to an intronic GAA repeat expansion in the FGF14 gene, has been described recently. We screened DNA samples for expanded FGF14 GAA repeats in individuals with movement disorder (N = 526) in our laboratory at NIMHANS, Bengaluru, India. Clinically pathogenic repeat expansions of FGF14 (GAA) were detected in 14 of 526 patients (2.

Reliability of Digital Palpation to Perineometeric Scoring for Assessment of Pelvic Floor Muscle Strength: A Comparative Study.

Objectives: This study aimed to assess the level of agreement between digital palpation and perineometeric scoring in measuring the strength of PFM. The objective was to ascertain the worth of digital assessment, enabling healthcare professionals to utilize it as a convenient screening and evaluation tool without the requirement of acquiring specialized equipment.

Materials And Methods: This study included 435 Indian women between the ages of 18 and 55 years.

A Rare Case of Primary Small Cell Carcinoma of the Esophagus.

Small cell carcinoma of the esophagus is a rare and aggressive variant of esophageal cancer. We report a case of a 69-year-old female who presented with dysphagia to solid food for 6 months and underwent esophagogastroduodenoscopy, which revealed an ulcerated mass in the proximal esophagus. Biopsy findings were consistent with esophageal small cell cancer.

Profile of female homeless individuals with intellectual developmental disorder admitted to a government-run shelter home: An observational study.

Background: Homeless Individuals with Intellectual Developmental Disabilities (IDDs) are living in institutional settings. Understanding the prevalence of physical and mental health conditions and daily life abilities is essential for developing informed service strategies.

Aims: The study aims to examine the prevalence and pattern of neuropsychiatric comorbidities and their association with the severity of IDD.

The DNA methyltransferase complex conundrum: novel DNA methyltransferase 1 mutation in an Indian patient with dementia and sensory neural hearing loss on a background of long-standing psychosis.

Epigenetic alterations, like DNA methylation, are increasingly recognised as integral to the development of both neurological and psychiatric disorders. Mutations in the DNA methyltransferase 1 (DNMT1) gene have also been linked to specific neurodegenerative syndromes. Despite these advances, when and how these alterations influence disease expression remains to be understood.

Allelic Diversity, De Novo CAG Expansions and Intergenerational Instability at the HTT Locus in a Sample from India.

Background: Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the expansion of an unstable CAG repeat sequence in the Huntingtin (HTT) gene. The prevalence of HD, allelic diversity, rate of novel expansions and the clinical correlates vary across populations.

Objective: We analyzed the diversity of alleles and their clinical correlates and examined the inheritance patterns and the pattern of instability of CAG repeats in a few families.

Metabolic and endocrine dysfunctions in traumatic brain injury: Implications for cognitive recovery and therapeutic strategies.

Traumatic brain injury (TBI) triggers a chain reaction of intricate metabolic abnormalities, sometimes leading to ongoing cognitive deficits. These abnormalities comprise dysregulation in trace element homeostasis, disrupted neurotransmitter modulation, increased lipid peroxidation, compromised glucose metabolism, and organ-specific metabolic changes. Most recent studies suggest that metabolic abnormalities are the root cause of cognitive decline in post-traumatic stress disorder.

Diversifying Psychiatric Genomics: Globally Inclusive Strategies Toward Health Equity.

The underrepresentation of non-European researchers, participants, and datasets in psychiatric genetics hinders the understanding of mental health conditions and perpetuates health inequities. Ancestral diversity in research is crucial for advancing insights into disease etiology and achieving equity in precision medicine. Key strategies include optimizing data use, fostering global collaboration for capacity building, and adopting best practices in research methods.

Spatial and functional profiles distinguish target sets of Parkinson's disease and antipsychotic drugs with different clinical effects.

Several studies have examined the genetic factors shared between Parkinson's disease (PD) and schizophrenia (SZ), but the biological themes underlying their clinical relationships remain less explored. We employed systematic transcriptomic and network analyses to examine the genes targeted by two sets of antipsychotic drugs (APDs) - first-generation APDs inducing Parkinsonism and second-generation APDs typically effective against psychotic symptoms in PD - and two sets of PD drugs, one at risk of psychosis and the other with a lower risk of psychosis. Although global brain expression patterns did not effectively differentiate between the targets of the two sets of APDs, they did differentiate the targets of the two PD drug sets.

CAG Repeat Instability and Region-Specific Gene Expression Changes in the SCA12 Brain.

Spinocerebellar ataxia type 12 (SCA12), an autosomal dominant cerebellar ataxia, caused by an expansion of (CAG) in the 5' of the PPP2R2B gene on chr5q32, is common in India. The illness often manifests late in life, with diverse neurological and psychiatric symptoms, suggesting involvement of different brain regions. Prominent neuronal loss and atrophy of the cerebellum have been noted earlier.

A Novel Homozygous Variant in Gene in a Patient with Developmental Deficits.

Background: Oral-facial-digital syndrome (OFDS) type 6 is a rare subtype of Joubert syndrome characterized by orofacial anomalies and polydactyly with neurological features of Joubert syndrome. This rare syndrome is divided into thirteen subtypes, all of which demonstrate autosomal recessive inheritance, except for OFDS type 1 which demonstrates X-linked dominant inheritance.

Case Presentation: A 19-year-old man with mild developmental delay was brought to a rural community clinic, as he had become irritable and angry, in the recent past.

Shared deficits of education, marital and occupational functioning in unaffected siblings of multiple affected families with major psychiatric illness.

Background: Major psychiatric illnesses often cluster in families, and their impact on affected and unaffected members within families may reflect the consequence of both genetic and social liability.

Methods: Data was derived from 202 families with multiple affected individuals. Affected individuals (N = 259) had a diagnosis of schizophrenia, bipolar disorder, obsessive-compulsive disorder or substance use disorder.

Dysregulated Cerebrospinal Fluid Proteome of Spinocerebellar Ataxia Type 2 and its Clinical Implications.

Background: Abnormalities in ataxin-2 associated with spinocerebellar ataxia type 2 (SCA2) may lead to widespread disruptions in the proteome. This study was performed to identify dysregulated proteome in SCA2 and to explore its clinical-radiological correlations.

Methods: Cerebrospinal fluid (CSF) samples from 21 genetically confirmed SCA2 were subjected to shotgun proteome analysis using mass spectrometry (MS) and tandem mass tag (TMT)-based multiplexing.

An Unexpected Lymphoma: A Rare Case of Primary Gastric Burkitt's Lymphoma.

Primary gastric Burkitt's lymphoma is an aggressive non-Hodgkin's lymphoma that has been rarely reported in the literature. The majority of primary gastric lymphomas are diffuse large B-cell lymphomas and mucosa-associated lymphoid tissue (MALT) lymphomas. Patients with primary gastric Burkitt's lymphoma can present with abdominal pain, hematemesis, melena, perforation, and obstruction.

A cross ancestry genetic study of psychiatric disorders from India.

Genome-wide association studies across diverse populations may help validate and confirm genetic contributions to risk of disease. We estimated the extent of population stratification as well as the predictive accuracy of polygenic scores (PGS) derived from European samples to a data set from India. We analysed 2685 samples from two data sets, a population neurodevelopmental study (cVEDA) and a hospital-based sample of bipolar affective disorder (BD) and obsessive-compulsive disorder (OCD).

The Initial Epoch of Psychosurgery in India: A Retrospective Data Review from Mysore Government Mental Hospital.

Background: In the early 20 century, psychosurgery had gained worldwide popularity for treating mentally ill persons, especially in western countries. We attempt to chronicle its journey in the Mysore Government Mental Hospital (MGMH), now the National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru.

Methods: Archived case records and registers of patients admitted from 1939 to 1947 were reviewed to identify those who had undergone psychosurgery.

Parkinson's disease and schizophrenia interactomes contain temporally distinct gene clusters underlying comorbid mechanisms and unique disease processes.

Genome-wide association studies suggest significant overlaps in Parkinson's disease (PD) and schizophrenia (SZ) risks, but the underlying mechanisms remain elusive. The protein-protein interaction network ('interactome') plays a crucial role in PD and SZ and can incorporate their spatiotemporal specificities. Therefore, to study the linked biology of PD and SZ, we compiled PD- and SZ-associated genes from the DisGeNET database, and constructed their interactomes using BioGRID and HPRD.

An evolutionary perspective on complex neuropsychiatric disease.

The forces of evolution-mutation, selection, migration, and genetic drift-shape the genetic architecture of human traits, including the genetic architecture of complex neuropsychiatric illnesses. Studying these illnesses in populations that are diverse in genetic ancestry, historical demography, and cultural history can reveal how evolutionary forces have guided adaptation over time and place. A fundamental truth of shared human biology is that an allele responsible for a disease in anyone, anywhere, reveals a gene critical to the normal biology underlying that condition in everyone, everywhere.

Accuracy and Reliability of Different Approaches for the Assessment of Pelvic Floor Muscle Strength: A Systematic Review.

There had been various methods employed for the evaluation of pelvic floor muscle (PFM) strength. The aim of the study was to do a systemic review of these methods for a better understanding of these techniques and to find the best appropriate method. A systemic review of the literature was done using three databases that included: PubMed, Scopus and Web of Science using the keywords "pelvic floor anatomy" and "functional anatomy of pelvic floor muscles" from 1985 to 2022.