Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.

Objectives:  The proposed screening study was aimed at determining the prevalence of Gaucher disease in a selected high-risk population of patients and describing the clinical profile of diagnosed patients.

Methodology: It was a prospective observational study from January 2020 to September 2022 (two years and eight months) in the genetic clinic of the pediatric department. A total of 22 patients were suspected to be having Gaucher disease based on clinical findings of hepatosplenomegaly with bicytopenia or isolated thrombocytopenia.

Low-dose hydroxycarbamide therapy may offer similar benefit as maximum tolerated dose for children and young adults with sickle cell disease in low-middle-income settings.

The multiple clinical benefits of hydroxycarbamide in sickle cell disease are supported by a large body of evidence. The maximum tolerated dose (MTD) is the regimen recommended by guidelines from a panel of National Heart, Lung, and Blood Institute (NHLBI) experts, but other dosage regimens have been used in babies (BABY-HUG) 9 to 18 months old (20 mg/kg per day) and developing countries such as India (10 mg/kg per day); however, there has been no direct comparison of the efficacy, effectiveness, or cost-effectiveness of these different regimens. The purpose of this review was to investigate the current situation with various hydroxycarbamide regimens with particular relevance to low-middle-income countries.

Cardiac status in children with acute poststreptococcal glomerulonephritis.

Acute poststreptococcal glomerulonephritis (PSGN) is the most common type of glomerulonephritis seen in children. It can affect multiple organs with heart being frequently involved. Yet, there are very few studies on cardiac status in children with PSGN and hence this study was conducted.

Health Related Quality of Life in Patients with Transfusion-dependent Thalassemia.

Patients with transfusion-dependent thalassemia are expected to have an unfavorable quality of life due to multiple factors. We studied the quality of life in 72 patients (age 5-39 y) with transfusion-dependent thalassemia in the era of improved care, and assessed different parameters affecting it.