Fabry nephropathy and membranous lupus nephritis-an unexplored link.

Fabry disease (FD) is an inherited X-linked lysosomal disorder resulting in the deficiency of the enzyme alpha-galactosidase-A. This leads to the accumulation of glycoproteins and glycolipids in various organs. It classically presents in males in the first decade with neuropathic pain, with or without renal involvement.

Serum IgA/C3 ratio as a diagnostic and prognostic biomarker for IgA nephropathy.

IgA nephropathy (IgAN) is a common glomerular disease in adults with a smoldering course and high risk of progression to end-stage kidney disease (ESKD) in South Asians. We investigated serum IgA/C3 ratio as a potential biomarker for IgAN. We measured serum levels of IgA and C3 in 258 patients with IgAN and 90 controls with non-IgAN primary glomerular disease and examined if serum IgA/C3 ratio differentiates IgAN from other glomerular diseases and if it predicts renal survival in IgAN.

What's new in medical renal pathology 2025: Updates on podocytopathy and immunofluorescence staining in medical kidney.

Diffuse podocytopathy, including minimal change disease and primary focal segmental glomerulosclerosis, is a common cause of nephrotic syndrome in adults and children. It is increasingly recognized to be autoimmune-mediated associated with anti-nephrin and other emerging anti-slit diaphragm antibodies, and can recur in the kidney allograft. Immunofluorescence is routinely used in evaluation of kidney biopsies, and updates include those on fibrillar diseases, monoclonal staining, lupus-like staining, and use of antibody KM55 in IgA-dominant glomerulonephritis.

Renal Pathology Society/International Kidney and Monoclonal Gammopathy Research Group consensus on pathologic definitions and terminology of monoclonal gammopathy-associated kidney lesions.

The spectrum of kidney lesions associated with monoclonal gammopathy has significantly expanded over the past 2 decades, with description of new entities and variants of old entities. Pathologic diagnosis is challenging because of lesional complexity, heterogeneity, and reliance on electron microscopy and ancillary techniques. A lack of precise pathologic definitions and uniform terminology has hampered diagnostic accuracy.

Designing a summative assessment blueprint in community medicine: an expert consensus approach at All India Institute of Medical Sciences.

Background: Despite the increasing integration of competency-based education in medicine, there remains a significant gap in effectively assessing educational outcomes, underscoring the urgent need for designed assessment blueprints that accurately reflect both curriculum content and competency standards in Community Medicine for undergraduate students. This study, conducted across the All-India Institute of Medical Sciences (AIIMS) network, develops a summative assessment blueprint aimed at standardizing evaluations in medical education across diverse geographic locations in India.

Methods: Twenty-five experts from 10 All India Institutes of Medical Science were invited via email and contributed for summative assessment for a theory paper.

Studies on the Stereoselective Synthesis of Sacubitril via a Chiral Amine Transfer Approach.

We present a comprehensive account of our efforts directed towards the synthesis of sacubitril, a neprilysin inhibitor used in combination with valsartan and marketed as Entresto™. Our initial approach to the formal synthesis of sacubitril employed a chiral pool strategy, utilizing (S)-pyroglutamic acid as a key building block and Cu(I)-mediated Csp-Csp cross-coupling as a key transformation. Further investigations led to the development of chiral amine transfer (CAT) reagents-based stereoselective synthesis.

Spectrum of Alport syndrome in an Indian cohort.

Background: Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease in clinical settings other than the typical presentation of Alport syndrome (AS).

Methods: We reviewed the clinical and histological records of children diagnosed with Alport syndrome based on next-generation sequencing. Variants on clinical exome sequencing were categorized using ACMG 2015 criteria.

Burden of Chronic Kidney Disease of Undetermined Aetiology (CKDu) in a Tertiary Care Public Hospital in North India.

Introduction: Chronic kidney disease of undetermined aetiology (CKDu) is an important public health problem. Indian data are mostly based on studies from rural regions in south and east India. We examined the burden and profile of CKDu in patients attending a tertiary care hospital in north India.

Assessment of ownership of smart devices and the acceptability of digital health data sharing.

Smart portable devices- smartphones and smartwatches- are rapidly being adopted by the general population, which has brought forward an opportunity to use the large volumes of physiological, behavioral, and activity data continuously being collected by these devices in naturalistic settings to perform research, monitor health, and track disease. While these data can serve to revolutionize health monitoring in research and clinical care, minimal research has been conducted to understand what motivates people to use these devices and their interest and comfort in sharing the data. In this study, we aimed to characterize the ownership and usage of smart devices among patients from an expansive academic health system in the southeastern US and understand their willingness to share data collected by the smart devices.

Determinants of menstrual hygiene among adolescent school girls in a rural area of Patna, Bihar, India: A cross-sectional study.

Background: Adolescence is a transitional phase marked by the onset of menarche. Most adolescent girls have incomplete or inaccurate information about menstrual physiology and hygiene. There are several misconceptions and taboos linked with it, resulting in adverse health outcomes.

NOVEL RETINAL IMAGING ABNORMALITIES IN ALPORT SYNDROME.

Purpose: The purpose of this study was to report a novel observation during retinal screening of a child with Alport syndrome.

Methods: This was a review of case record and imaging files.

Results: Clinical examination of the retina and standard color fundus photography revealed no abnormality.

Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.

Background: Thrombotic microangiopathy (TMA) is usually caused due to dysregulation of the alternative complement pathway. Rarely, thrombotic microangiopathy is caused by non-complement mediated mutations in diacylglycerol kinase epsilon (DGKE); information about therapy and outcome of these patients is limited.

Methods: Medical records of patients, younger than 18 years, diagnosed with TMA and variants in DGKE were reviewed to include 12 patients from seven centers.

Monoclonal Gammopathy of Renal Significance: Histomorphological Spectrum at a Tertiary Care Center.

Introduction: The term monoclonal gammopathy of renal significance (MGRS) has been described to include patients with renal manifestations associated with circulating monoclonal proteins with or without a clonal lymphoproliferation (B-cell or plasma cell) and not meeting diagnostic criteria for an overt hematological malignancy. A host of MGRS-associated lesions have been described that involve various renal compartments. Our study describes the histomorphological spectrum of MGRS cases at our center in the last 5 years and description as per the classification system of the International Kidney and Monoclonal Gammopathy Research Group (IKMG).

Identifying Risk Factors for Blindness From Glaucoma at First Presentation to a Tertiary Clinic.

Purpose: Glaucoma is the leading cause of irreversible blindness, a crippling disability resulting in higher risks of chronic health conditions. To better understand disparities in blindness risk, we identified risk factors of blindness on first presentation to a glaucoma clinic using a large clinical database.

Design: Retrospective cross-sectional study.

Association of vitamin D status with disease severity and outcome in Indian patients with IgA nephropathy.

Background: Vitamin D deficiency has been examined as a risk factor for severity and progression of kidney disease due to its immunomodulatory effects. There is paucity of data about its impact in IgA nephropathy (IgAN).

Methods: In a retrospective cohort study, 25 (OH) vitamin D assay was performed in bio-banked baseline serum samples collected during kidney biopsy of 105 adult patients with primary IgAN diagnosed between 2015 and 2019.

A study on the morbid histopathological changes in COVID-19 patients with or without comorbidities using minimally invasive tissue sampling.

COVID-19 causes morbid pathological changes in different organs including lungs, kidneys, liver, and so on, especially in those who succumb. Though clinical outcomes in those with comorbidities are known to be different from those without-not much is known about the differences at the histopathological level. To compare the morbid histopathological changes in COVID-19 patients between those who were immunocompromised (Gr 1), had a malignancy (Gr 2), or had cardiometabolic conditions (hypertension, diabetes, or coronary artery disease) (Gr 3), postmortem tissue sampling (minimally invasive tissue sampling [MITS]) was done from the lungs, kidney, heart, and liver using a biopsy gun within 2 hours of death.

Identification of celiac disease associated IgA nephropathy by IgA anti-tissue transglutaminase2 antibody deposits in archived formalin-fixed tissues.

Background: The causal association between IgA nephropathy (IgAN) and celiac disease (CeD) is based on their clinical coexistence. In this prospective study, we screened patients with IgAN for CeD and explored the utility of analysis of IgA anti-TG2 antibody deposits, for establishing a causal association.

Methods: Biopsy-proven patients of IgAN were screened for serum IgA anti-tissue transglutaminase antibody (IgA anti-tTG Ab) titer and thereafter were invited to undergo endoscopic duodenal biopsy.

A Systematic Review of Time Series Classification Techniques Used in Biomedical Applications.

Digital clinical measures collected via various digital sensing technologies such as smartphones, smartwatches, wearables, and ingestible and implantable sensors are increasingly used by individuals and clinicians to capture the health outcomes or behavioral and physiological characteristics of individuals. Time series classification (TSC) is very commonly used for modeling digital clinical measures. While deep learning models for TSC are very common and powerful, there exist some fundamental challenges.

Small molecule SJ572946 activates BAK to initiate apoptosis.

Poration of the outer mitochondrial membrane by the effector BCL-2 proteins BAK and BAX initiates apoptosis. BH3-only initiators BID and BIM trigger conformational changes in BAK and BAX transforming them from globular dormant proteins to oligomers of the apoptotic pores. Small molecules that can directly activate effectors are being sought for applications in cancer treatment.

Attitude and Perceived Barriers Among Highly Educated Women Towards Cervical Cancer Screening by Pap Smear: An Online Survey.

Background Cervical cancer continues to pose a heavy burden on developing countries like India. Early detection of precancerous lesions via Pap smear screening can greatly avert cervical cancer deaths. However, the uptake of cervical cancer screening is poor, and several barriers exist to adequately utilizing screening services.

The International IgA Nephropathy Network Prediction Tool Underestimates Disease Progression in Indian Patients.

Introduction: International IgA nephropathy (IgAN) network (IIgANN) prediction tool was developed to predict risk of progression in IgAN. We attempted to externally validate this tool in an Indian cohort because the original study did not include Indian patients.

Methods: Adult patients with primary IgAN were stratified to low, intermediate, higher, and highest risk groups, as per the original model.

ACE2 protein expression in lung tissues of severe COVID-19 infection.

Angiotensin-converting enzyme 2 (ACE2) is a key host protein by which severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) enters and multiplies within cells. The level of ACE2 expression in the lung is hypothesised to correlate with an increased risk of severe infection and complications in COrona VIrus Disease 2019 (COVID-19). To test this hypothesis, we compared the protein expression status of ACE2 by immunohistochemistry (IHC) in post-mortem lung samples of patients who died of severe COVID-19 and lung samples obtained from non-COVID-19 patients for other indications.