Whole exome sequencing reveals novel and rare variants in nonsyndromic hearing loss-related genes: A focus on compound heterozygosity.

Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder affecting millions worldwide. Recent advances in genetic technologies have expanded our understanding of its molecular basis, but challenges remain in identifying and interpreting causative variants. This study aimed to investigate the genetic etiology of NSHL using comprehensive genetic screening, with a focus on identifying rare and potentially pathogenic variants.

Impact of Xmn1 polymorphism on hydroxyurea therapy in children with HbE-β non-transfusion dependent thalassemia: a cohort study.

Background: Fetal hemoglobin (HbF) inducers, among which hydroxyurea is the most extensively used, have shifted the paradigm toward the treatment of non-transfusion-dependent thalassemia (NTDT). Xmn1 polymorphism (rs7482144) is characterized by substitution (C>T) at -158 position of the γ-globin gene, which leads to CC, CT, or TT genotype. Recently, the role of the Xmn1 polymorphism as a modifier of hydroxyurea therapy has attracted immense research interest.

Variable expressivity of Malan syndrome.

We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.

Spectrum of Rare and Novel Indel Mutations Responsible for β Thalassemia in Eastern India.

Unlabelled: There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based screening compared to the inclusion of genetic confirmation as a second-tier test and its implications in terms of genotype-phenotype correlation. A prospective, institution-based, observational study was conducted at the Department of Paediatric Medicine, including 103 children aged up to 12 years.

Comparative Evaluation of Serum Lithium Estimation Using Plain Glass Vial and Serum Clot Activator Vacutainer by Reflectance Photometry.

 The collection of blood samples in different vacutainers can affect the result of serum lithium estimation due to the presence of distinct additives in the blood collection vacutainer for enhancing the clot formation process. Due to the low therapeutic index and threat of toxicity of lithium, it is imperative to correctly report the test result. Thus, it has become a challenge for the laboratory physician to estimate lithium in any clinical laboratory setup.

Developing a Blueprint for Theoretical Assessment of Biochemistry of Phase I MBBS Students.

Here, we have systematically developed a blueprint for the biochemistry theory assessment of phase I MBBS students in India which we have been using for both formative and summative assessments for the past 2 academic years. The blueprint has ensured the content validity and construct reliability and fairness of the assessment.

Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.

Background: Ataxia-Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder. It is caused by mutations in the Ataxia-Telangiectasia mutated (ATM) gene, which codes for protein ATM serine/threonine kinase.

Objective: We aim to describe the clinical and radiological findings in children and adolescents of 20 molecularly confirmed cases of AT.

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutational inactivation of a developmental pathway responsible for generation of tissues of ectodermal origin. The X-linked form accounts for the majority of HED cases and is caused by Ectodysplasin (EDA) pathogenic variants. We performed a combined analysis of 29 X-linked hypohidrotic ectodermal dysplasia (XLHED) families (including 12 from our previous studies).

Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.

Introduction: Wilson disease (WD) is characterized by a wide variety of clinical manifestations. Our study aimed to correlate genotype with clinical and radiological features in Indian WD patients.

Methods: We conducted a descriptive observational study in a tertiary care neurology referral center of eastern India over a period of 2 years.

Evaluation of e-OSPE as compared to traditional OSPE: A pilot study.

Objectively Structured Clinical/Practical Examination (OSCE/OSPE) has been the backbone of the assessment system of graduate medical education for over three decades. We have developed an electronic Objectively Structured Practical Examination (e-OSPE) in Medical Biochemistry using the freely available Google forms to mitigate the academic disruption posed by COVID-19 pandemic in our resource-poor setting. Ten e-OSPE stations created, interlinked, and time-restricted.

Host genomics of COVID-19: Evidence point towards Alpha 1 antitrypsin deficiency as a putative risk factor for higher mortality rate.

Corona Virus Disease 2019 (COVID-19) has emerged as a pandemic leading to unprecedented disruption of global health and economy. Transmembrane protease serine 2 (TMPRSS2) has been found to be critical in priming the viral spike protein and the host ACE2 receptor before the virus enters into the host cell. Recent studies have experimentally demonstrated that Alpha 1 antitrypsin (encoded by SERPINA1 gene) is an inhibitor of TMPRSS2 and provided support to the already approved therapy as a candidate for COVID-19.

Zinc and COVID-19: Basis of Current Clinical Trials.

Coronavirus disease-2019 (COVID-19) pandemic continues to threaten patients, societies, and economic and healthcare systems around the world. Like many other diseases, the host immune system determines the progress of COVID-19 and fatality. Modulation of inflammatory response and cytokine production using immunonutrition is a novel concept that has been applied to other diseases as well.

Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.

Charcot-Marie-Tooth (CMT) disease is mainly a disease of peripheral nervous system and patients typically present with features of demyelinating neuropathy or axonal neuropathy or both. Rarely patients present with features of central nervous system involvement. Parkinsonism, aphemia and familial epilepsy syndrome have previously come up as case reports in association with CMT type 4 J.

The transition from objectively structured practical examination (OSPE) to electronic OSPE in the era of COVID-19.

The coronavirus (COVID-19) pandemic is forcing the medical educators to innovate and embrace online education and assessment platform. One of the most significant challenges we are facing is the formative assessment of practical skills in the undergraduate medical biochemistry education. We have designed the electronic objectively structured practical examination to facilitate the formative assessment.

Schuurs-Hoeijmakers syndrome in a patient from India.

Schuurs-Hoeijmakers syndrome (SHMS), or Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) is a rare form of intellectual disability with distinct facial features. A recurrent de novo heterozygous c.607C>T, p.

Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.

Molybdenum cofactor deficiency is a rare metabolic disorder manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. In this report, we describe a three-month-old infant with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadriparesis and visual insufficiency. Magnetic resonance imaging of brain had shown cystic encephalomalacia involving bilateral parieto-occipital lobe and elevated lactate in magnetic resonance spectroscopy.

Genetic analysis of consanguineous families presenting with congenital ocular defects.

Anophthalmia and microphthalmia (A/M) are a group of rare developmental disorders that affect the size of the ocular globe. A/M may present as the sole clinical feature, but are also frequently found in a variety of syndromes. A/M is genetically heterogeneous and can be caused by chromosomal aberrations, copy number variations and single gene mutations.

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.

Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis. We report two Indian families from different regions of India who underwent molecular testing of CYP27A1.