Scrub Typhus in Paediatric Age Group at a Tertiary Care Centre of Eastern India: Clinical, Biochemical Profile and Complications.

Background: Scrub typhus is a reemerging zoonosis, which presents as acute febrile illness. Very few paediatric prospective studies on this disease are reported from Eastern India. This prospective observational study was carried out to study the clinical presentation, diagnosis, complications and immediate outcome of Scrub typhus in paediatric population in a tertiary care hospital from Eastern India.

Chromosome 1p31.1 Deletion Syndrome: Limited Expression.

Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities. 1p31 microdeletion syndrome is one of the novel microdeletion syndromes that usually presents with developmental delay, intellectual disability, various craniofacial abnormalities, and other systemic abnormalities in a proportion of cases. NEGR1 and NFIA are few of the genes present in this locus responsible for these symptoms.

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Background: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is an extremely rare autosomal recessive disorder with variable expressivity, caused by biallelic mutations in the PTRH2 gene. Core features are global developmental delay or isolated speech delay, intellectual disability, sensorineural hearing loss, ataxia, and pancreatic insufficiency (both exocrine and endocrine). Additional features may include postnatal microcephaly, peripheral neuropathy, facial dysmorphism, and cerebellar atrophy.

Oxidative stress, antioxidant capacity, biomolecule damage, and inflammation symptoms of sickle cell disease in children.

Background: The phenotypic expression of sickle cell disease (SCD) is a complex pathophysiologic condition. However, sickle erythrocytes might be the cause for multiple sources of pro-oxidant processes with consequent linked to chronic and systemic oxidative stress. Herein, we explored the SCD phenomena could be the result in formation of oxidative stress as well as inflammation in children.