Rimjhim Sonowal
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View article: Unraveling the diagnostic puzzle: Trio of lymphadenopathy, organomegaly, and lung nodules in cSLE
Unraveling the diagnostic puzzle: Trio of lymphadenopathy, organomegaly, and lung nodules in cSLE Open
Background: Generalized lymphadenopathy with fever, pulmonary involvement, and organomegaly in children can be caused by infections, malignancies, or autoimmune disorders, with infections being the most frequent. However, childhood-onset s…
View article: Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome: Difficult to find or treat? Open
Satoyoshi Syndrome, also known as Komuragaeri disease, is a rare multisystemic autoimmune disorder characterised by alopecia, intermittent painful muscle spasms, diarrhoea, endocrinopathies, skeletal deformities, and positivity for antinuc…
View article: Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism—A Case Report
Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism—A Case Report Open
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: 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: Pseudomonas UTI Masquerading as Neonatal Jaundice: A Case Report
Pseudomonas UTI Masquerading as Neonatal Jaundice: A Case Report Open
The pathological jaundice in neonates develops due to hematological, infectious, surgical causes. We present an interesting case of persistent neonatal hyperbilirubinemia, who was diagnosed to have urinary tract infection (UTI) and effecti…
View article: Growth Pattern in Very Low Birth Weight Infants in a Tertiary Care Center
Growth Pattern in Very Low Birth Weight Infants in a Tertiary Care Center Open
View article: Early Onset Hypocalcaemia in Sick Newborns: A Prospective Observational Study
Early Onset Hypocalcaemia in Sick Newborns: A Prospective Observational Study Open
Introduction: Calcium physiology is in transitional state after birth and may be deranged by various neonatal disorders leading to hypocalcaemia. Coexisting hypocalcaemia can further worsen underlying condition and increase mortality. This…
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: Neonatal Thyrotoxicosis Co-existing With Early Onset Sepsis
Neonatal Thyrotoxicosis Co-existing With Early Onset Sepsis Open
View article: Profile of renal diseases in North-East Indian children
Profile of renal diseases in North-East Indian children Open
The pattern of kidney diseases varies in different places due to differences in genetic status, socioeconomic status, access to health care, and presence of background infection. In spite of nephrology as a specialty since 1970s, there are…
View article: Study of bone mineral metabolism in children with acute lymphoblastic leukemia
Study of bone mineral metabolism in children with acute lymphoblastic leukemia Open
View article: Risk factors for relapse in children with Hodgkin lymphoma treated with chemotherapy alone protocols
Risk factors for relapse in children with Hodgkin lymphoma treated with chemotherapy alone protocols Open
View article: Role of cardiac biomarkers in detection of myocardial damage in children with hematological malignancies treated with anthracyclines
Role of cardiac biomarkers in detection of myocardial damage in children with hematological malignancies treated with anthracyclines Open
View article: Salvage therapy for refractory high-risk Langerhans Cell Histiocytosis – A case report
Salvage therapy for refractory high-risk Langerhans Cell Histiocytosis – A case report Open