Disease Spectrum of Breast Cancer Susceptibility Genes.

Background: Pathogenic variants in cancer susceptibility genes can increase the risk of a spectrum of diseases, which clinicians must manage for their patients. We evaluated the disease spectrum of breast cancer susceptibility genes (BCSGs) with the aim of developing a comprehensive resource of gene-disease associations for clinicians.

Methods: Twelve genes (, and ), all of which have been conclusively established as BCSGs by the Clinical Genome Resource (ClinGen) and/or the NCCN guidelines, were investigated.

Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India.

Familial Hypercholesterolemia (FH) is an autosomal, dominant, inherited disorder characterized by severely elevated LDL-cholesterol (LDL-C) levels with high risk for Coronary Artery Disease (CAD). There are limited genetic studies especially on genes other than Low Density Lipoprotein receptor (LDLR) conducted in Indian population. Thus, our aim was to screen the entire Proprotein Convertase Subtilisin/Kexin type 9 gene (PCSK9) gene & hotspot exons 3, 4 and 9 of LDLR gene in FH cases and controls.

Is the rise in Crohn's disease in India accompanied by a fall in intestinal tuberculosis? A single-center experience.

Introduction: The relationship between the incidence of intestinal tuberculosis (TB) and Crohn's disease (CD) is interesting, especially considering the striking similarity between the two conditions. Some studies from Asian populations suggested that the incidence of intestinal TB decreases when there is an increase in CD.

Aim: To compare the incidence trend between intestinal TB and CD over 15 years.

Use of thiopurines in inflammatory bowel disease: an update.

Inflammatory bowel disease (IBD), once considered a disease of the Western hemisphere, has emerged as a global disease. As the disease prevalence is on a steady rise, management of IBD has come under the spotlight. 5-Aminosalicylates, corticosteroids, immunosuppressive agents and biologics are the backbone of treatment of IBD.

Clinical, Serological, Whole Genome Sequence Analyses to Confirm SARS-CoV-2 Reinfection in Patients From Mumbai, India.

SARS-CoV-2 infection may not provide long lasting post-infection immunity. While hundreds of reinfections have reported only a few have been confirmed. Whole genome sequencing (WGS) of the viral isolates from the different episodes is mandatory to establish reinfection.

Disease spectrum of gastric cancer susceptibility genes.

Pathogenic variants in germline cancer susceptibility genes can increase the risk of a large number of diseases. Our study aims to assess the disease spectrum of gastric cancer susceptibility genes and to develop a comprehensive resource of gene-disease associations for clinicians. Twenty-seven potential germline gastric cancer susceptibility genes were identified from three review articles and from six commonly used genetic information resources.

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in , and genes. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population.

Ophthalmology residency trainers' perspective on standardization of residency training in India.

Purpose: The aim of this study was to study the perception of residency trainers about an optimum residency program.

Methods: A survey, using a pre-validated questionnaire, was conducted by the Academic and Research Committee of the All India Ophthalmological Society, in 2019-20 with questions directed to teachers in medical colleges and national board of examination's ophthalmology residency programs on demography, teaching experience, imparting clinical and surgical skills, ideal academic schedule and dissertation in the post-graduate residency program.

Results: The response rate in the survey was 47.

Distinctive Mobile Genetic Elements Observed in the Clonal Expansion of Carbapenem-Resistant in India.

(Kp), a common multidrug-resistant pathogen, causes a wide spectrum of nosocomial infections with high rates of morbidity and mortality. The emergence of pan drug-resistant international high-risk clones such as ST258, ST14, ST15, ST147, and ST101 is a global concern. This study was performed to investigate the carbapenemases, the plasmid profile, and the clonal relationship among Indian .

Do irradiated osteo-articular recycled tumor autografts still hold promise for biological joint reconstruction? Our experience with acetabular and proximal ulna ECRT.

Background: Joint reconstruction following resection of malignant bone tumors is challenging in itself in spite of several options in hand. Ability to restore joint anatomy, function and mobility while achieving optimal oncological outcomes are the requirement of reconstructions today. While biological reconstructions (allograft or recycled tumor autografts) following tumor bone surgery are popular for intercalary resections not involving the joint, their use for osteo-articular reconstructions are associated with concerns over cartilage and joint health.

Low Osmolarity Oral Rehydration Salt Solution (LORS) in Management of Dehydration in Children.

Justification: The IAP last published the guidelines "Comprehensive Management of Diarrhea" in 2006 and a review in 2016. The WHO in 2002 and the Government of India in 2004 recommended low osmolarity rehydration solution (LORS) as the universal rehydration solution for all ages and all forms of dehydration. However, the use of LORS in India continues to be unacceptably low at 51%, although awareness about ORS has increased from a mere 14% in 2005 to 69% in 2015.

Fibrotic interstitial lung disease occurring as sequelae of COVID-19 pneumonia despite concomitant steroids.

A 75-year-old female with no history of lung disease developed severe pulmonary fibrosis within 1 month of acute severe COVID-19 pneumonia. She developed dry basal crackles, hypoxia needing home oxygen, and computed tomography changes which dramatically evolved from acute ground-glass opacities to honeycombing and traction bronchiectasis. Interestingly, these changes occurred despite her being on steroids through most of her hospital stay.

Atrial tachycardia misinterpreted as ventricular high-rate event in a patient with the sick sinus disease and a DDD pacemaker.

The device misinterpreted atrial high-rate episode (AHRE) as ventricular high-rate episode (VHRE), since consecutive atrial beats fell in the postventricular atrial blanking (PVAB) period. This resulted in the failure of auto mode switch (AMS). This was corrected by decreasing the PVAB and the patient was asymptomatic on follow-up.

Non-medullary Thyroid Cancer Susceptibility Genes: Evidence and Disease Spectrum.

Background: The prevalence of non-medullary thyroid cancer (NMTC) is increasing worldwide. Although most NMTCs grow slowly, conventional therapies are less effective in advanced tumors. Approximately 5-15% of NMTCs have a significant germline genetic component.

Egg-shell calcification in Pick's disease (chronic constrictive pericarditis).

Egg-shell calcification is rare in cases with constrictive pericarditis. It leads to significant right heart failure and the only treatment is surgical excision of the pericardium. We present a case of a 22-year-old-male who was diagnosed to have severe pericardial calcification on the chest X-ray, which eventually led to a diagnosis of constrictive pericarditis and required an early surgical correction.

Does a Modified Technique to Achieve Arthrodesis of the Wrist After Resection of the Distal Radius and Translocating the Ipsilateral Ulna as a Vascularized Graft to Reconstruct the Defect Improve Grip Strength and Outcomes Scores?

Background: Ten years ago, we reported the results of a procedure in which we translocated the ipsilateral ulna as a vascularized autograft to reconstruct defects of the distal radius after tumor resection, with excellent functional results. At that time, wrist arthrodesis was achieved by aligning the translocated ulna with the scapholunate area of the carpus and usually the third metacarpal. This resulted in wrist narrowing.

Consensus and development of document for management of stabilized acute decompensated heart failure with reduced ejection fraction in India.

Aim: Ensuring adherence to guideline-directed medical therapy (GDMT) is an effective strategy to reduce mortality and readmission rates for heart failure (HF). Use of a checklist is one of the best tools to ensure GDMT. The aim was to develop a consensus document with a robust checklist for stabilized acute decompensated HF patients with reduced ejection fraction.

COVID-19 -Tuberculosis interactions: When dark forces collide.

The SARS-2 pandemic which has moved with frightening speed over the last 5 months has several synergies with another older, and far more neglected airborne disease, tuberculosis. Patients with tuberculosis are not only more likely to be infected by SARS-CoV-2 but also likely to have adverse outcomes once infected. The sequelae of more severe forms of COVID-19 in patients who have recovered from TB but have residual compromised lung function, are also likely to be devastating.

Cytomegalovirus in Indian systemic lupus erythematosus patients: troublemaker or onlooker?

Introduction: cytomegalovirus (CMV) infection has been reported to be associated with onset/exacerbation of systemic lupus erythematosus (SLE). In an attempt to verify this, we studied CMV infection in SLE patients.

Methods: forty-two SLE patients were studied at 3-time points; disease onset/flare, at peak of immunosuppression (at 6 weeks) and at low doses of immunosuppression (at 6 months).