Atanu Kumar Dutta
YOU?
Author Swipe
View article: Managing a child with cherubism with functional consequences: a case report
Managing a child with cherubism with functional consequences: a case report Open
Cherubism is a rare begin, self-limiting autosomal dominant disorder characterized by bilateral and symmetric fibro-osseous lesions affecting the mandible and maxilla. The child with this disorder requires conservative management. Surgical…
View article: A hospital-based registry of children with intellectual disability
A hospital-based registry of children with intellectual disability Open
Approximately 2% of the Indian population experiences some degree of intellectual disability (ID). In terms of disability-adjusted life-years, ID accounts for 10.8% of the burden of mental disorders in India, ranking third after depressive…
View article: A novel study to assess knowledge, attitude, and practices of housekeeping and sanitation workers for infection control in clinical service laboratories of a tertiary care hospital
A novel study to assess knowledge, attitude, and practices of housekeeping and sanitation workers for infection control in clinical service laboratories of a tertiary care hospital Open
Objectives This study aimed to assess the knowledge, attitudes, and practices (KAP) of health and sanitation workers (HSWs) regarding safe housekeeping and sanitary practices. Materials and Methods A cross-sectional study was conducted fro…
View article: Impact of Xmn1 polymorphism on hydroxyurea therapy in children with HbE-β non-transfusion dependent thalassemia: a cohort study
Impact of Xmn1 polymorphism on hydroxyurea therapy in children with HbE-β non-transfusion dependent thalassemia: a cohort study Open
Background: Fetal hemoglobin (HbF) inducers, among which hydroxyurea is the most extensively used, have shifted the paradigm toward the treatment of non–transfusion-dependent thalassemia (NTDT). Xmn1 polymorphism (rs7482144) is characteriz…
View article: Cinemeducation improves early clinical exposure to inborn errors of metabolism
Cinemeducation improves early clinical exposure to inborn errors of metabolism Open
Cinemeducation is an effective tool to help students develop humanistic skills. However, there was a need for more studies to find out if this can also be utilized to improve the interest and satisfaction of students learning about rare di…
View article: Exome re-analysis increases the diagnostic yield of monogenic diseases in children
Exome re-analysis increases the diagnostic yield of monogenic diseases in children Open
View article: Pharmacogenomics-assisted treatment versus standard of care in schizophrenia: a systematic review and meta-analysis
Pharmacogenomics-assisted treatment versus standard of care in schizophrenia: a systematic review and meta-analysis Open
Background Pharmacogenomic (PGx) factors significantly influence how patients respond to antipsychotic medications This systematic review was performed to synthesize the clinical utility of PGx-assisted treatment versus standard of care in…
View article: Homozygous hemoglobin Lepore disease in a child: A case report
Homozygous hemoglobin Lepore disease in a child: A case report Open
Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare. We describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented with a thalassemia interm…
View article: Pharmacogenomics-assisted schizophrenia management: A hybrid type 2 effectiveness-implementation study protocol to compare the clinical utility, cost-effectiveness, and barriers
Pharmacogenomics-assisted schizophrenia management: A hybrid type 2 effectiveness-implementation study protocol to compare the clinical utility, cost-effectiveness, and barriers Open
Objectives The response to antipsychotic therapy is highly variable. Pharmacogenomic (PGx) factors play a major role in deciding the effectiveness and safety of antipsychotic drugs. A hybrid type 2 effectiveness-implementation research wil…
View article: A second update on mapping the human genetic architecture of COVID-19
A second update on mapping the human genetic architecture of COVID-19 Open
View article: Serum triacylglycerol: A putative early biomarker of disease severity of Type 2 diabetes mellitus compared to microalbuminuria
Serum triacylglycerol: A putative early biomarker of disease severity of Type 2 diabetes mellitus compared to microalbuminuria Open
Poorly controlled type 2 diabetes mellitus progresses to several complications including nephropathy. While glycated hemoglobin demarcates severity, urinary microalbumin indicates renal involvement. Considering nephropathy is a late manife…
View article: Feasibility of Including Hands-On Microteaching in the Medical Faculty Development Program in India: A Mixed-Methods Study
Feasibility of Including Hands-On Microteaching in the Medical Faculty Development Program in India: A Mixed-Methods Study Open
Background Medical faculty development programs (FDPs) often lack hands-on training in teaching skills. Microteaching, a short, focused teaching practice, could be a feasible way to bridge this gap. This study aimed to explore the feasibil…
View article: Comparative Evaluation of Serum Lithium Estimation Using Plain Glass Vial and Serum Clot Activator Vacutainer by Reflectance Photometry
Comparative Evaluation of Serum Lithium Estimation Using Plain Glass Vial and Serum Clot Activator Vacutainer by Reflectance Photometry Open
Introduction The collection of blood samples in different vacutainers can affect the result of serum lithium estimation due to the presence of distinct additives in the blood collection vacutainer for enhancing the clot formation process. …
View article: Developing a Blueprint for Theoretical Assessment of Biochemistry of Phase I MBBS Students
Developing a Blueprint for Theoretical Assessment of Biochemistry of Phase I MBBS Students Open
View article: A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations
A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations Open
Background Non-syndromic hearing loss (NSHL) is characterized by congenital mild-to-profound sensorineural hearing impairment. It affects 1 in 1000 neonates in India. While we have a large genetically deaf population in India, our knowledg…
View article: Comparative evaluation of serum lithium estimation in serum samples using plain glass vial and serum clot activator vacutainer by reflectance photometry principle
Comparative evaluation of serum lithium estimation in serum samples using plain glass vial and serum clot activator vacutainer by reflectance photometry principle Open
Background The collection of blood samples in different vacutainers can affect the result of serum lithium estimation due to the presence of distinct additives added in the blood collection vacutainer for enhancing the clot formation proce…
View article: Significance of Serial formative assessment on the teaching learning process
Significance of Serial formative assessment on the teaching learning process Open
Introduction Assessment is an important driving force behind an effective teaching-learning process; since assessment measures the outcome as per the objective of the education, hence it determines the entire lesson plan for apposite align…
View article: Developing a blueprint for theoretical assessment of Biochemistry of phase I MBBS students
Developing a blueprint for theoretical assessment of Biochemistry of phase I MBBS students Open
Here we have systematically developed a blueprint for Biochemistry theory assessment of phase I MBBS students in India which we have been using for both formative and summative assessments for the past two academic years. The blueprint has…
View article: Exome re-analysis driven by deep phenotyping increases diagnostic yield
Exome re-analysis driven by deep phenotyping increases diagnostic yield Open
Objective To explore if clinician driven systematic reanalysis of “negative” exome sequencing data of patients with a strong suspicion of a Mendelian disease by a Clinical Geneticist using deep phenotyping can increase the diagnostic yield…
View article: Cinemeducation improves early clinical exposure to Inborn Errors of Metabolism
Cinemeducation improves early clinical exposure to Inborn Errors of Metabolism Open
Background Cinemeducation has been shown to be an effective tool to help the students develop humanistic skills. However, there is a dearth of studies to find out if this can also be utilized to improve the interest and satisfaction of stu…
View article: The spectrum of rare and novel indel mutations responsible for β Thalassemia in eastern India
The spectrum of rare and novel indel mutations responsible for β Thalassemia in eastern India Open
Purpose There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based…
View article: Congenital chloride diarrhea presenting as dilated fetal bowel loops
Congenital chloride diarrhea presenting as dilated fetal bowel loops Open
A ten-month-old female, born out of second-degree consanguineous marriage, presented with complaints of 15–20 daily episodes of watery diarrhea since birth associated with poor weight gain and delayed motor developmental milestones. Antena…
View article: Editorial: Monogenic vs. Oligogenic Reclassification
Editorial: Monogenic vs. Oligogenic Reclassification Open
EDITORIAL article Front. Genet., 13 December 2021Sec. Genetics of Common and Rare Diseases Volume 12 - 2021 | https://doi.org/10.3389/fgene.2021.821591
View article: Mapping the human genetic architecture of COVID-19
Mapping the human genetic architecture of COVID-19 Open
View article: Host genomics of COVID-19: Evidence point towards Alpha 1 antitrypsin deficiency as a putative risk factor for higher mortality rate
Host genomics of COVID-19: Evidence point towards Alpha 1 antitrypsin deficiency as a putative risk factor for higher mortality rate Open
View article: Zinc and COVID-19: Basis of Current Clinical Trials
Zinc and COVID-19: Basis of Current Clinical Trials Open
View article: The transition from objectively structured practical examination (OSPE) to <scp>electronic OSPE</scp> in the era of <scp>COVID</scp>‐19
The transition from objectively structured practical examination (OSPE) to <span>electronic OSPE</span> in the era of <span>COVID</span>‐19 Open
The coronavirus (COVID‐19) pandemic is forcing the medical educators to innovate and embrace online education and assessment platform. One of the most significant challenges we are facing is the formative assessment of practical skills in …
View article: Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. Open
Molybdenum cofactor deficiency is a rare metabolic disorder manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. In this report, we describe a three-month-old infant with neonatal onset, poorly controll…
View article: Restrictive Dermopathy
Restrictive Dermopathy Open
A girl neonate was admitted to a neonatal intensive care unit with tight skin all over the body, multiple joint contractures, and breathing difficulty. She was third born to third degree consanguineous parentage and delivered at 33 weeks o…
View article: Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population Open
Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xantho…