High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population.

Purpose: Recurrent Miscarriages (RM) commonly complicates the reproductive outcome where prominently chromosomal aberrations and molecular factors lead to recurrent miscarriages. We investigated couples with RM for cytogenetic abnormalities and Y chromosome microdeletions in males along with detection of aneuploidies de novo in the product of conception from a highly ethnic consanguineous population (Kashmir, North India) .

Study Design: Chromosomal analysis was done by Karyotyping on peripheral blood lymphocyte cultures and analyzed by Cytovision software Version 3.

Metastatic Breast Cancer, Organotropism and Therapeutics: A Review.

The final stage of breast cancer involves spreading breast cancer cells to the vital organs like the brain, liver lungs and bones in the process called metastasis. Once the target organ is overtaken by the metastatic breast cancer cells, its usual function is compromised causing organ dysfunction and death. Despite the significant research on breast cancer metastasis, it's still the main culprit of breast cancer-related deaths.

Association of IFN-gamma and IL-10 gene variants with the risk of extrapulmonary tuberculosis.

Tuberculosis (TB) caused by (MTB) is a chronic infectious disease. is an important cytokine imparting resistance to mycobacterial diseases. It is believed that and play divergent roles in the host immune system against infection.

Genetic Susceptibility of DCC Gene in Gallbladder Cancer in Kashmir and Meta-Analysis.

Deleted in colorectal carcinoma (rs714) is the most widely studied SNP of tumor suppressor gene found to be associated with increased risk of various cancers. Therefore, the aim of present case control study was to investigate the role of (rs714) in gallbladder cancer GBC) in Kashmir and to conduct a meta-analysis of (rs714) polymorphism to demonstrate the more accurate strength of these associations. Genotyping was done by PCR/RFLP and confirmed by sequencing in 100 GBC cases, and 150 controls.

Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women.

Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens.

Clinical Profile and Risk Factors for Severe Disease in 402 Children Hospitalized with SARS-CoV-2 from India: Collaborative Indian Pediatric COVID Study Group.

Introduction: There is a lack of large multicentric studies in children with COVID-19 from developing countries. We aimed to describe the clinical profile and risk factors for severe disease in children hospitalized with COVID-19 from India.

Methods: In this multicentric retrospective study, we retrieved data related to demographic details, clinical features, including the severity of disease, laboratory investigations and outcome.

Role of genetic variants of Vitamin D receptor, Toll-like receptor 2 and Toll-like receptor 4 in extrapulmonary tuberculosis.

Background: Tuberculosis (TB) is a chronic infectious disease caused by Mycobacterium tuberculosis (MTB). Vitamin D deficiency and vitamin D receptor (VDR) gene abnormalities confer susceptibility to tuberculosis. Toll-like receptors (TLRs), such as TLR-2, are also important mediators of inflammatory response against Mycobacterium tuberculosis.

Influence of prominent immunomodulatory cytokines TNF-α308 G>A (rs1800629) and TGFβ1 G>C (rs1800471) sequence variations as an important contributing factor in etiopathogenesis of recurrent miscarriages in Kashmiri women (North India).

Aim: We aimed to evaluate the genetic variation of tumor necrosis factor-α (TNF-α) 308 G>A (rs1800629) and transforming growth factor (TGF) β1G>C (rs1800471) to confer risk in patients with recurrent miscarriage in highly consanguineous population of Kashmir (North India).

Methods: A total of 200 women who experienced two or more recurrent miscarriages (along with 100 spouses, 60 products of conception, and 240 healthy controls) with two or more full-term pregnancies were recruited from the same geographical region and evaluated by polymerase chain reaction-restriction fragment length polymorphism method.

Results: TNF-α 308 G>A variant genotype (AA) was significantly associated with recurrent miscarriage cases (2.

Favorable role of 1/2 mutations aided with promoter gene methylation in the outcome of patients with malignant glioma.

Aim: The implications of molecular biomarkers 1/2 mutations and gene promoter methylation were evaluated for prognostic outcome of glioma patients.

Materials & Methods: Glioma cases were analyzed for 1/2 mutations and promoter methylation by DNA sequencing and methylation-specific PCR, respectively.

Results: Mutations found in 1/2 genes totaled 63.

Surgical Management of Freiberg Disease by Dorsal Closing Wedge Osteotomy.

Introduction: The purpose of the study was to assess the efficacy of the dorsal closing wedge osteotomy for the treatment of Freiburg's infraction.

Material And Methods: Twenty patients with Freiburg's infraction were admitted at our hospital over a period of six years. Patients with a normal plantar contour of the metatarsal head were included.

Modality of Radiotherapy and Overall Survival in Pediatric Diffuse Brainstem Gliomas: Implications for Resource-Constrained Settings.

Background: Childhood diffuse brainstem glioma (dBSG) is a rare tumor with a poor prognosis. Any tumor-directed surgical intervention is difficult. Magnetic resonance imaging forms the mainstay of diagnosis and radiation therapy has remained the backbone of therapy.

Extra digital glomus tumor: A very rare cause of chronic abdominal wall pain.

Introduction: Glomus tumors are very rare benign vascular tumors, constituting less than 2% of soft tissue tumors. These tumors originate from the glomus body. 75% of these tumors occur in hand however rarely can be found in any body part.

Association of strong risk of hTERT gene polymorphic variants to malignant glioma and its prognostic implications with respect to different histological types and survival of glioma cases.

Background: Germline genetic variants of human telomerase reverse transcriptase (hTERT) are known to predispose for various malignancies, including glioma. The present study investigated genetic variation of hTERT T/G (rs2736100) and hTERT G/A (rs2736098) with respect to glioma risk.

Methods: Confirmed cases (n = 106) were tested against 210 cancer-free healthy controls by the polymerase chain reaction-restriction fragment length polymorphism technique for genotyping.

Haloperidol Induced Sudden Cardiac Arrest-Report of a Very Rare Case and Review of Literature.

Haloperidol is a typical antipsychotic drug. This drug is still widely used in emergency medicine, psychiatry, and general medicine departments. It is mostly used for acute confusional state, psychotic disorders, agitation, delirium, and aggressive behaviour.

Endoscopic Yield, Appropriateness, and Complications of Pediatric Upper Gastrointestinal Endoscopy in an Adult Suite: A Retrospective Study of 822 Children.

Background/aims: This study aimed to study the endoscopic yield, appropriateness, and complications of pediatric endoscopy performed by adult gastroenterologists in an adult endoscopic suite.

Methods: This a retrospective study in which records of all the patients less than 18 years of age who underwent endoscopy in the last 5 years were studied. The indications of endoscopy in children were categorized as appropriate or inappropriate per the latest guidelines by American Society for Gastrointestinal Endoscopy and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.

Role of GlutathioneTransferases in Gallbladder Cancer and Cholelithiasis Susceptibility and Meta-Analysis.

Glutathionetransferase T1 (GSTT1) and glutathionetransferase M1 (GSTM1) genes are associated with increase susceptibility to developing different types of cancers. The aim of present study was to investigate the role of genetic variants of GSTM1 and GSTT1 in gallbladder cancer (GBC) and cholelithiasis in Kashmir valley. Genotyping was done by multiplex polymerase chain reaction in 100 GBC, 100 cholelithiasis, and 150 controls adjusted by age and sex.

A significant association of the CTLA4 gene variants with the risk of autoimmune Graves' disease in ethnic Kashmiri population.

Graves' disease (GD) is the commonest cause of hyperthyroidism in populations with adequate iodine intake. It results from an abnormality in the immune system, which produces unique antibodies causing over production of thyroid hormones and glandular hyperplasia in individuals with genetic susceptibility. The Cytotoxic Lymphocyte Associated Antigen-4 (CTLA4) gene product serves the important function of immunomodulation, thereby helping in maintenance of peripheral self-tolerance.

Alveolar Soft Part Sarcoma Metastasizing to the Brain: A Rare Entity Revisited with Review of Recent Literature.

A 20-year-old male patient presented with a recent history of two episodes of seizures and Glasgow Coma Scale of E3V3M6. He was drowsy at presentation with bradycardia. On further examination, he was found to be having a 10 × 6cm well-circumscribed mass in the right medial thigh whose fine needle aspiration cytology was suggestive of soft tissue sarcoma.

Hedgehog Signaling: An Achilles' Heel in Cancer.

Hedgehog signaling pathway originally identified in the fruit fly Drosophila is an evolutionarily conserved signaling mechanism with crucial roles in embryogenesis, growth and patterning. It exerts its biological effect through a signaling mechanism that terminates at glioma-associated oncogene (GLI) transcription factors which alternate between activator and repressor forms and mediate various responses. The important components of the pathway include the hedgehog ligands (SHH), the Patched (PTCH) receptor, Smoothened (SMO), Suppressor of Fused (SuFu) and GLI transcription factors.

Influenza vaccine effectiveness among Hajj pilgrims: a test-negative case-control analysis of data from different Hajj years.

: Influenza is a common respiratory infection at Hajj. Thus, influenza vaccine is recommended for Hajj pilgrims but data on its effectiveness from a large sample are unavailable. This analysis aims to assess the effectiveness of the trivalent seasonal influenza vaccine (TIV) among Hajj pilgrims.

Influenza epidemiology and influenza vaccine effectiveness during the 2015-2016 season: results from the Global Influenza Hospital Surveillance Network.

Background: The Global Influenza Hospital Surveillance Network is an international platform whose primary objective is to study severe cases of influenza requiring hospitalization.

Methods: During the 2015-2016 influenza season, 11 sites in the Global Influenza Hospital Surveillance Network in nine countries (Russian Federation, Czech Republic, Turkey, France, China, Spain, Mexico, India, and Brazil) participated in a prospective, active-surveillance, hospital-based epidemiological study. Influenza infection was confirmed by reverse transcription-polymerase chain reaction.

Influenza epidemiology and influenza vaccine effectiveness during the 2016-2017 season in the Global Influenza Hospital Surveillance Network (GIHSN).

Background: The Global Influenza Hospital Surveillance Network (GIHSN) aims to determine the burden of severe influenza disease and Influenza Vaccine Effectiveness (IVE). This is a prospective, active surveillance and hospital-based epidemiological study to collect epidemiological data in the GIHSN. In the 2016-2017 influenza season, 15 sites in 14 countries participated in the GIHSN, although the analyses could not be performed in 2 sites.