As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely been limited by the lack of resources providing harmonized data especially at a population-scale.
View Article and Find Full Text PDFBackground: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.
Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.
Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.
Background Fundus examination is an integral part of the clinical evaluation of patients with medical emergencies. It is done at the bedside using a portable direct ophthalmoscope. Smartphone fundus photography (SFP) is a novel technique of retinal imaging.
View Article and Find Full Text PDFObjectives: Stroke is a medical emergency, the leading cause of death, and a significant cause of disability in developing countries. The primary goals of stroke management focus on reducing disability, which needs prompt treatment in time. Fever, sugar-hyperglycemia, and swallowing (FeSS) bundle are a promising nurse-led composite for reducing disability and death.
View Article and Find Full Text PDFWoodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries.
View Article and Find Full Text PDFIntroduction: Melioidosis is an under-recognized but important infection with high mortality and morbidity. It is endemic along the coastal regions of the Southern part of India. The present study focuses on the varied clinical manifestations, associated risk factors, and outcomes in patients from the Southeastern part of India.
View Article and Find Full Text PDFObjective: The aim of this study was to detect the presence of IgM antibodies against dengue (DEN), chikungunya (CHIK) and Japanese encephalitis (JE) in the serum and CSF of patients with Guillaine-Barre syndrome (GBS).
Methods: GBS patients (>12 years of age) were included after informed consent. Data on history, clinical manifestations, treatment details, and outcome were collected.
Background: Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in . The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical WS. In the remaining nine cases, only one heterozygous pathogenic variant has been identified.
View Article and Find Full Text PDFLiver abscess is one of the conditions having multiple etiological agents. It can be parasitic or can be due to bacterial among other causes. is one of the common protozoan parasites causing amoebic liver abscess.
View Article and Find Full Text PDFPrimary nocardiosis of the lymph node is a rare presentation even in an immunocompromised individual, with few case reports in the literature. In addition, Nocardia farcinica as observed in our case, is rarely documented, making it an interesting report. This paper clearly illustrates the subtle morphological clues that can be used to diagnose nocardial infection.
View Article and Find Full Text PDFCavities of the lung are considered to be an atypical and rare finding in COVID pneumonia. In this retrospective study, we report a series of 22 patients who developed large cavities, 2 to 4 weeks from the onset of symptoms. None of them were mechanical ventilated and 18 died within a few days of detection of the cavities.
View Article and Find Full Text PDFObjective: The aim of the study is to do a clinicopathologic study of post mortem kidney biopsies with significant deposition of bilirubin pigment within tubular epithelial cells and in the lumen of distal tubules as a bile cast.
Material And Method: All post mortem specimens with acute tubular necrosis, with the presence of bile casts in tubules or bile pigment deposition in the tubular epithelium during the period 2015-2018 were examined for gross and histopathology along with biochemical parameters and viral markers.
Results: Bile casts with sloughed renal tubular epithelial cells and occasional macrophages were present in the distal convoluted tubule in 78.
Plasmablastic lymphoma (PBL) is a rare, aggressive non-Hodgkin lymphoma which shows blastic morphology and an immunophenotype of plasma cell differentiation while chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma is an indolent B-cell lymphoma and has a variable clinical course. A CLL transforming into a PBL and the coexistence of CLL with PBL are both extremely rare findings. We report an unusual case of a 72-year-old HIV-negative male who presented with a gingival swelling which was diagnosed as PBL with simultaneous CLL in the blood and bone marrow.
View Article and Find Full Text PDFImmunosuppressive therapy (IST), consisting of anti thymocyte globulin and cyclosporine, is the standard of care for elderly patients and in younger patients without matched donor for stem cell transplant. In this retrospective study of 60 patients, most had non severe AA (51.6%) followed by very severe AA (26.
View Article and Find Full Text PDFBackground: In India the data on paraquat (PQ) poisoning are limited to case reports and small case series. Hence, this study was carried out to understand the clinical features and outcomes of PQ poisoning. We also briefly report the relevant Indian studies on PQ poisoning.
View Article and Find Full Text PDFThe SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integrin-binding sialoprotein (IBSP) also called bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), and dentin sialophosphoprotein (DSPP)]. Each SIBLING has at least one "acidic, serine- and aspartic acid-rich motif" (ASARM) and multiple Ser-x-Glu/pSer sequences that when phosphorylated promote binding of the protein to hydroxyapatite for regulation of biomineralization. Mendelian disorders from loss-of-function mutation(s) of the genes that encode the SIBLINGs thus far involve DSPP causing various autosomal dominant dysplasias of dentin but without skeletal disease, and DMP1 causing autosomal recessive hypophosphatemic rickets, type 1 (ARHR1).
View Article and Find Full Text PDFBackground: The objective of this article was to study the presence of antibodies against Zika virus (ZIKV), Campylobacter jejuni, and gangliosides in patients with Guillain-Barre syndrome (GBS).
Materials And Methods: Ninety consecutive patients (age more than 12 years) with GBS admitted to a tertiary care center in southern India were included in this study. Data on clinical manifestations, nerve conduction studies, and response to therapy were collected.
Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4).
View Article and Find Full Text PDFIndian J Gastroenterol
July 2017
Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome.
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