Real time-PCR a diagnostic tool for reporting copy number variation and relative gene-expression changes in pediatric B-cell acute lymphoblastic leukemia-a pilot study.

Real time-polymerase chain reaction (RT-PCR) is used routinely in clinical practice as a cost-effective method for molecular diagnostics. Research in pediatric B-cell Acute Lymphoblastic Leukemia (ped B-ALL) suggests that apart from cytogenetics and clinical features, there is a need to include Copy number variation (CNV) in select genes at diagnosis, for upfront stratification of patients. Using ped B-ALL as a model, we have developed a RT-PCR-based iterative probability scoring method for reporting CNVs, and relative gene-expression changes.

Nutritional Status and Body Composition at Diagnosis, of South Indian Children with Acute Lymphoblastic Leukaemia (ALL).

Background: Accurate estimation of body composition, particularly, Body Cell Mass (BCM), which is independent of hydration status is important in children with cancer. This study aimed to accurately measure the anthropometry and body composition of children with Acute Lymphoblastic Leukaemia (ALL) at diagnosis and compare them with healthy children from South India.

Methods: This was a cross-sectional study in children aged 2 to 8 y with ALL from St.

Dapsone for paediatric chronic immune thrombocytopenia: Short report from a tertiary centre in South India.

Immune thrombocytopenia (ITP) resolves in most children within 3-12 months of diagnosis. Chronic ITP affects 10%-20% of patients, some of whom require treatment. Several second-line agents are efficacious in this group of patients.

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Background: Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). Phenotypic characteristics include reduced pigmentation, absent platelet dense granule secretion, neutropenia and reduced cytotoxic T lymphocyte (CTL) and natural killer (NK) cell function. To date HPS2 has been associated with non-synonymous, stop-gain or deletion-insertion nucleotide variations within the coding region of AP3B1.