0000000000692296
AUTHOR
Vijay Kumar
showing 6 related works from this author
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2019
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…
SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study
2021
SARS-CoV-2 has been associated with an increased rate of venous thromboembolism in critically ill patients. Since surgical patients are already at higher risk of venous thromboembolism than general populations, this study aimed to determine if patients with peri-operative or prior SARS-CoV-2 were at further increased risk of venous thromboembolism. We conducted a planned sub-study and analysis from an international, multicentre, prospective cohort study of elective and emergency patients undergoing surgery during October 2020. Patients from all surgical specialties were included. The primary outcome measure was venous thromboembolism (pulmonary embolism or deep vein thrombosis) within 30 da…
Nardostachys jatamansi (D.Don) DC.: An invaluable and constantly dwindling resource of the Himalayas
2020
International audience; The use of medicinal plant species for different therapeutic effects is well recognized around the globe. Nardostachys jatamansi (D.Don) DC. (Family: Caprifoliaceae Juss.), commonly known as Indian spikenard is a critically endangered medicinal plant which grows at high altitudes in the alpine and sub-alpine regions of the Himalayas. Its medicinal use is well-recognized in the Bhutanese, Chinese, Indian, Japanese, Nepalese and Tibetan medicine. Moreover, its medicinal properties are well established in traditional medicines including Ayurveda, Ben-Cao- Shi-Yi, Homer's Iliad, the Old Testament, as in conventional systems. The increasing national and international dema…
Worldwide trends in population-based survival for children, adolescents, and young adults diagnosed with leukaemia, by subtype, during 2000–14 (CONCO…
2022
BACKGROUND Leukaemias comprise a heterogenous group of haematological malignancies. In CONCORD-3, we analysed data for children (aged 0-14 years) and adults (aged 15-99 years) diagnosed with a haematological malignancy during 2000-14 in 61 countries. Here, we aimed to examine worldwide trends in survival from leukaemia, by age and morphology, in young patients (aged 0-24 years). METHODS We analysed data from 258 population-based cancer registries in 61 countries participating in CONCORD-3 that submitted data on patients diagnosed with leukaemia. We grouped patients by age as children (0-14 years), adolescents (15-19 years), and young adults (20-24 years). We categorised leukaemia subtypes a…
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
2018
AbstractPurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated mutations.ResultsThe number of rare secondary mutations in functionally intolerant genes (second-hits) correlated with the expressivity of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in probands with autism carrying gene-disruptive mutations (n=184, p=0.03) compared to …
Potential use of 68Ga-apo-transferrin as a PET imaging agent for detecting Staphylococcus aureus infection.
2010
Abstract Introduction 67 Ga citrate has been extensively used to detect infection and inflammation since 1971. However, its clinical utility is compromised due to several limitations. The present project explored whether 68 Ga- apo -transferrin ( 68 Ga-TF), when prepared in vitro, is a useful agent for positron emission tomography (PET) imaging of bacterial infection. Methods An infection was induced in male Wistar rats by injecting 5×10 5 CFU units of Staphyococcus aureus in the right thigh muscle. 68 Ga-TF was synthesized by mixing 68 GaCl 3 with apo -transferrin (TF, 2 mg) in sodium carbonate (0.1 M, pH 7.0) and incubating at 40°C for 1 h. Animals were injected with 10–15 MBq of 68 Ga-TF…