Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Background And Objectives: Next-generation sequencing (NGS) has expedited the diagnostic process and unearthed many rare disorders in leukodystrophy (LD) and genetic leukoencephalopathy (gLE). Despite the progress in genomics, there is a paucity of data on the distribution of genetic white matter disorders (WMDs) and the diagnostic utility of NGS-based assays in a clinical setting. This study was initiated to explore the clinical, radiologic, and genetic spectrum of LD and gLE in the Indian population and also to estimate the diagnostic yield of clinical exome sequencing (CES).

SIRT6 in Regulation of Mitochondrial Damage and Associated Cardiac Dysfunctions: A Possible Therapeutic Target for CVDs.

Cardiovascular diseases (CVDs) can be described as a global health emergency imploring possible prevention strategies. Although the pathogenesis of CVDs has been extensively studied, the role of mitochondrial dysfunction in CVD development has yet to be investigated. Diabetic cardiomyopathy, ischemic-reperfusion injury, and heart failure are some of the CVDs resulting from mitochondrial dysfunction Recent evidence from the research states that any dysfunction of mitochondria has an impact on metabolic alteration, eventually causes the death of a healthy cell and therefore, progressively directing to the predisposition of disease.

Quantifying abnormal writing kinematics in writer's cramp using a novel software platform.

Background: Writer's cramp is a task-specific focal hand dystonia, which is diagnosed clinically. Quantification of defect in WC is done using clinical scales, while digitized platforms are lacking.

Objective: To design and test a platform that can differentiate and quantify the abnormal kinematics of writing using a software interface and to validate it in adult-onset isolated writer's cramp (WC).

Familial adult myoclonus epilepsy: a pragmatic approach.

Familial Adult Myoclonus Epilepsy (FAME), with a prevalence of < 1/35 000, is known under different acronyms. The disease is transmitted in an autosomal dominant manner and is characterized by the occurrence of cortical myoclonic tremor, overt myoclonus, and rare bilateral tonic-clonic seizures. FAME is considered neurodegenerative, although it is relatively slow in progression.

Mechanisms Behind the Pharmacological Application of Biochanin-A: A review.

This review was aimed at summarizing the cellular and molecular mechanisms behind the various pharmacological actions of biochanin-A. Many studies have been reported claiming its application in cancers, metabolic disorders, airway hyperresponsiveness, cardiac disorders, neurological disorders, etc. With regard to hormone-dependent cancers like breast, prostate, and other malignancies like pancreatic, colon, lung, osteosarcoma, glioma that has limited treatment options, biochanin-A revealed agreeable results in arresting cancer development.

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin.

Objective: To provide new insight into the occurrence of SACS mutations in South India.

Methods: Patients with three cardinal features of ARSACS-peripheral neuropathy, cerebellar ataxia, and pyramidal tract signs were included.

A clinical comparative study of thyroid surgeries with and without drain.

Most of the thyroid surgeries are accompanied by drain placement. The possibility of hematoma or seroma formation postoperatively is of concern to surgeons, as, thyroid is a highly vascular structure and a minor hemorrhage might also turn out to be life threatening, despite actual incidence of it being only 0.3-1%.

Parkinson's disease - genetic cause.

Purpose Of Review: Our knowledge of the genetic architecture underlying Parkinson's disease has vastly improved in the past quarter century. About 5-10% of all patients suffer from a monogenic form of Parkinson's disease.

Recent Findings: Mutations in autosomal dominant genes (e.

MXene supported biomimetic bilayer lipid membrane biosensor for zeptomole detection of BRCA1 gene.

A biomimetic bilayer lipid membrane supported MXene based biosensor is reported for electrochemical hybridization detection of the most prevalent and potential BC biomarker BRCA1. 2D MXene nanosheet-anchored gold nanoparticle-decorated biomimetic bilayer lipid membrane (AuNP@BLM) biosensor is used for the attachment of thiolated single-stranded DNA (HS-ssDNA) targeting hybridization detection. The interaction of biomimetic bilayer lipid membrane with 2D MXene nanosheets is explored in this work for the first time.

Electrochemical impedimetric immunosensor based on stabilized lipid bilayer-tethered WS@MWCNT for the sensitive detection of carcinoembryonic antigen.

An innovative and ultrasensitive electrochemical impedimetric immunosensor was developed for the quantitative detection towards carcinoembryonic antigen (CEA). CEA is a widely utilized tumour biomarker that is generated in a wide variety of cancers and it is a frequently used biomarker for clinical research and early detection of cancer. Novelty of the present work is the utilization of biomimetic membrane comprising gold nanoparticle-stabilized lipid bilayer (SLB) containing DOPE (1,2-dioleoyl-sn-glycero-3-phosphoethanolamine) and DOTAP (N-[1-(2,3-Dioleoyloxy)propyl]-N,N,N-trimethyl ammonium Propane) for easy protein insertion, bio-affinity, and bio-functionalization towards the detection of CEA.

Pearls & Oy-sters: SCA21 Due to Variation Presenting as Myoclonus Dystonia Syndrome.

Spinocerebellar ataxia 21 due to disease-associated variation characteristically presents insidiously with a delay in language, motor, and social skill acquisition. The condition typically progresses to severe cognitive impairment. We report a patient with SCA21 who presented with myoclonus dystonia (M-D) syndrome and whose dystonia showed a modest response to levodopa.

Sirtuins as therapeutic targets for improving delayed wound healing in diabetes.

Sirtuins are a vast family of histone deacetylases, which are NAD dependent enzymes, consisting of seven members, namely SIRT 1, SIRT 6 and SIRT 7 located within the nucleus, SIRT 2 in the cytoplasm and SIRT 3, SIRT 4 and SIRT 5 in the mitochondria. They have vital roles in regulating various biological functions such as age-related metabolic disorders, inflammation, stress response, cardiovascular and neuronal functions. Delayed wound healing is one of the complication of diabetes, which can lead to lower limb amputation if not treated timely.

Oromandibular Dystonia - A Systematic Review.

Oromandibular dystonia (OMD) is a clinical problem which is commonly encountered in the practice of movement disorders. OMD results from a variety of genetic and acquired etiologies and can occur as an isolated manifestation, or as part of an isolated generalized or a combined dystonia syndrome. There are only very few systematic reviews on this condition which often causes significant disability.

Pearls & Oy-sters: Grisel Syndrome Presenting as Pseudodystonia: A Twist in the Neck.

Pseudodystonia is a term that describes abnormal postures, repetitive movements, or both, where clinical analysis, imaging, laboratory, or electrophysiologic investigations indicate that these movements are not consistent with dystonia. Grisel syndrome (GS), characterized by rotatory subluxation of the atlantoaxial joint (AAJ) due to nontraumatic causes, is a cause of pseudodystonia. GS is seen in children less than 12 years of age and should be suspected in patients with acute onset of painful torticollis.

"Cock-walk" gait and "horseshoe moustache" sign on MRI in inherited hypermanganesemia.

Exogenous manganese (Mn) intoxication leads only to neurotoxicity, whereas inherited hypermanganesemia additionally can cause cirrhosis and polycythemia. We report two affected siblings in a family from South India with severe dysarthria, without dysphagia, generalized dystonia, and characteristic "cock-walk" gait which are clinical clues. Genetic study showed homozygous mutation in the first exon of solute carrier family 30 member 10 (SLC30A10) gene (c.

Effect of Moringa oleifera leaf extract on exercise and dexamethasone-induced functional impairment in skeletal muscles.

Background: Chronic administration of steroids like dexamethasone produces symptoms including weight loss and skeletal muscle dysfunction. Similar events are reported in chronic or high-intensity exercises, that can lead to fatigue and muscle damage.

Objective: In the present study, the effect of Moringa oleifera leaf extract was evaluated against dexamethasone (Dex) and exercise (Exe)-induced muscle changes in rats.