Publications by authors named "Prince Parakh"
Article Synopsis
- Inherited tubulopathies are genetic disorders affecting kidney function, and whole-exome sequencing (WES) is the best method for diagnosing these conditions in children.
- A study involving 77 children showed that WES successfully identified pathogenic variants in 70% of cases, with the highest diagnostic rates in conditions like nephrogenic diabetes insipidus and isolated hypophosphatemic rickets.
- The results of the genetic testing not only confirmed diagnoses but also led to significant changes in clinical management for about 31% of the children, helping identify co-morbidities and guiding specific treatments.
Clinical profile, aetiology and outcome of afebrile seizures in children.
JNMA J Nepal Med Assoc
April 2014
Introduction: Clinical and outcome profiles of childhood seizures can be different in resource limited settings where neurologists face lots of challenges in diagnosis and management of seizure. This study was conducted to investigate the clinical profile, causes and outcome of afebrile seizures in children in resource limited settings.
Methods: This was a prospective hospital based study.
Article Synopsis
- Urinary screening tests for asymptomatic children are crucial for detecting silent renal diseases, particularly in Nepalese school children.
- A study of 2,243 children aged 5-15 used dipstick tests, revealing that 5.5% had urinary abnormalities, with 0.71% confirmed in a second screening.
- The most common finding was glomerulonephritis, highlighting the potential of such screenings for early detection and prevention of kidney issues later on.