Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Purpose: Multiple Endocrine Neoplasia (MEN) is a group of familial cancer syndromes that encompasses several types of endocrine tumors differentiated by genetic mutations in RET, MEN1 and CDKN1B genes. Accurate diagnosis of MEN subtypes can thus be performed through genetic testing. However, MEN variants remain largely understudied in Indian populations.

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Background: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG-AMP) have issued a set of guidelines for variant classification. However, given the vast number of variants associated with any disorder, it is impossible to manually apply these guidelines to all known variants.

Understanding the roles and regulation of mitochondrial microRNAs (MitomiRs) in neurodegenerative diseases: Current status and advances.

MicroRNAs (miRNA) are a class of small non-coding RNA, roughly 21-22 nucleotides in length, which are master gene regulators. These miRNAs bind to the mRNA's 3' - untranslated region and regulate post-transcriptional gene regulation, thereby influencing various physiological and cellular processes. Another class of miRNAs known as mitochondrial miRNA (MitomiRs) has been found to either originate from the mitochondrial genome or be translocated directly into the mitochondria.

ICU Admissions and Outcomes of Childhood Cancer Patients in Single Tertiary Hospital in the Private Sector in India.

Ramandeep Singh Arora  Modern-day treatment of childhood cancer is punctuated by the necessary need for intensive care. This study was performed to understand the intensive care unit (ICU) admission rates and factors associated with ICU admission in a cohort of newly diagnosed childhood cancer patients in India.  All childhood (age <18 years) patients in the hospital-based cancer registry who had registered between March 1, 2013, and May 31, 2018, formed the cohort.

Paroxysmal Cold Hemoglobinuria in a 4-year-old Child.

Paroxysmal Cold Hemoglobinuria is a rare cause of intravascular hemolysis presenting in children following an acute viral illness. It is usually self-limiting in nature. We present the details of a 4-year-old boy who presented with rapid onset intravascular hemolysis.

Guillain-Barre syndrome masquerading as acute respiratory failure in an infant.

Guillain-Barré syndrome (GBS) is a rare entity in infants. We report a case of GBS in a 5-month-old girl. The child presented with cough, loose stools, breathing difficulty, and listlessness.

Interaction of tobacco smoking and chewing with Angiotensin converting enzyme (insertion/deletion) gene polymorphisms and risk of lung cancer in a high risk area from northeast India.

Background: Association of angiotensin converting enzyme (ACE) gene polymorphisms with lung cancer susceptibility remains uncertain and varies with ethnicity. Northeast India represents a geographically, culturally, and ethnically isolated population. The area reports an especially high rate of tobacco usage in a variety of ways of consumption, compared with the rest of the Indian population.

Association of a p53 codon 72 gene polymorphism with environmental factors and risk of lung cancer: a case control study in Mizoram and Manipur, a high incidence region in North East India.

Background: A very high incidence of lung cancer is observed in Mizoram and Manipur, North East India. We conducted a population based case control study to establish associations of p53 codon 72 polymorphisms and interactions with environmental factors for this high incidence.

Material And Methods: A total of 272 lung cancer cases and 544 controls matched for age (±5 years), sex and ethnicity were collected and p53 codon 72 polymorphism genotypes were analyzed using a polymerase chain based restriction fragment length polymorphism assay.

Promoter methylation of MGMT gene in serum of patients with esophageal squamous cell carcinoma in North East India.

Background: Promoter hypermethylation is a common event in human cancer. O6-methylguanine-DNA methyltransferase (MGMT) is a gene involved in DNA repair, which is methylated in a variety of cancers. We aimed to explore the methylation status of MGMT gene among the North Eastern population where esophageal cancer incidence and exposure to carcinogens like nitrosamines is high.

p16 hypermethylation: a biomarker for increased esophageal cancer susceptibility in high incidence region of North East India.

Esophageal cancer is one of the most common cancers in North East India. The molecular mechanisms of esophageal cancer susceptibility in North East India have not been fully understood. There is a need for identification of biomarkers to identify people at risk of esophageal cancer.

Orbitocranial complications of acute sinusitis in children.

Background: Orbitocranial complications (OCCs) of sinusitis are uncommon but potentially life threatening. OCCs carry high morbidity, mortality, and significant long-term sequelae. Late recognition leads to even worse outcomes.

Role of household exposure, dietary habits and glutathione S-Transferases M1, T1 polymorphisms in susceptibility to lung cancer among women in Mizoram India.

Background: A case-control study was conducted to evaluate the effect of household exposure, dietary habits, smoking and Glutathione S-Transferases M1, T1 polymorphisms on lung cancer among women in Mizoram, India.

Materials And Methods: We selected 230 newly diagnosed primary lung cases and 460 controls from women in Mizoram. Multivariate logistic regression analysis was performed to estimate adjusted odds ratio (OR).

Interaction of XRCC1 and XPD gene polymorphisms with lifestyle and environmental factors regarding susceptibility to lung cancer in a high incidence population in North East India.

Background: This study aimed to explore the role of XRCC1 (Arg399Gln) and XPD (Lys751Gln) gene polymorphisms, lifestyle and environmental factors as well as their possible interactions in propensity to develop lung cancer in a population with high incidence from North East India.

Materials And Methods: A total of 272 lung cancer cases and 544 controls were collected and XRCC1 (Arg399Gln) and XPD (Lys751Gln) genotypes were analyzed using a polymerase chain reaction based restriction fragment length polymorphism assay. Conditional multiple logistic regression analysis was used to calculate adjusted odds ratios and 95% confidence intervals after adjusting for confounding factors.

Genetic analysis in Bartter syndrome from India.

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population.

Pachymeningitis in a young child responded to antitubercular therapy: a case report.

Pachymeningitis is a rare disease of diverse etiology mainly affecting the adult population. Only 4 pediatric cases have been reported till now. We report the youngest child with pachymeningitis from India.

Ventriculo-peritoneal shunt: A rare cause of basal ganglia and thalamic abscess.

We report an 18-month-old female child with ventriculo-peritoneal shunt related thalamic abscess treated with stereotactic aspiration. Deep seated abscesses are complex due to difficult access and are associated with an increased risk of intra-ventricular rupture as well as antibiotic resistance, a fact which justifies a more aggressive and immediate neurosurgical management.

Isolated severe bilateral bronchomalacia.

Airway malacia is uncommon condition having symptoms similar to common respiratory illnesses. Any child having persistent wheeze during infancy should be evaluated for airway malacia. The authors report a case of isolated severe bilateral bronchomalacia managed with tracheostomy and continuous positive pressure ventilation.