An audit of specimens received for superficial fungal studies to the Department of Microbiology, University of Ruhuna

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Chikungunya as a cause of acute febrile illness in southern Sri Lanka

10.1371/journal.pone.0082259PLoS ONE812-POLN

The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.

Infant acute lymphoblastic leukemia (ALL) with MLL rearrangements (MLL-R) represents a distinct leukemia with a poor prognosis. To define its mutational landscape, we performed whole-genome, exome, RNA and targeted DNA sequencing on 65 infants (47 MLL-R and 18 non-MLL-R cases) and 20 older children (MLL-R cases) with leukemia. Our data show that infant MLL-R ALL has one of the lowest frequencies of somatic mutations of any sequenced cancer, with the predominant leukemic clone carrying a mean of 1.3 non-silent mutations. Despite this paucity of mutations, we detected activating mutations in kinase-PI3K-RAS signaling pathway components in 47% of cases. Surprisingly, these mutations were often subclonal and were frequently lost at relapse. In contrast to infant cases, MLL-R leukemia in older children had more somatic mutations (mean of 6.5 mutations/case versus 1.3 mutations/case, P = 7.15 × 10(-5)) and had frequent mutations (45%) in epigenetic regulators, a category of genes that, with the exception of MLL, was rarely mutated in infant MLL-R ALL

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are a hallmark of B cell precursor acute lymphoblastic leukemia (B-ALL)1–3, but inherited mutations of PAX5 have not previously been described. Here we report a new heterozygous germline variant, c.547G>A (p.Gly183Ser), affecting the octapeptide domain of PAX5 that was found to segregate with disease in two unrelated kindreds with autosomal dominant B-ALL. Leukemic cells from all affected individuals in both families exhibited 9p deletion, with loss of heterozygosity and retention of the mutant PAX5 allele at 9p13. Two additional sporadic ALL cases with 9p loss harbored somatic PAX5 substitutions affecting Gly183. Functional and gene expression analysis of the PAX5 mutation demonstrated that it had significantly reduced transcriptional activity. These data extend the role of PAX5 alterations in the pathogenesis of pre-B cell ALL and implicate PAX5 in a new syndrome of susceptibility to pre-B cell neoplasia

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia

BACKGROUN

Proportion of lower limb fungal foot infections in patients with type 2 diabetes at a tertiary care hospital in Sri Lanka

Background: Superficial fungal foot infection (SFFI) in diabetic patients increases the risk of developing diabetic foot syndrome. Sixteen percent of urban population is suffering from diabetes in Sri Lanka. As the diabetes patients are more prone to get fungal foot infections, early intervention is advisable owing to the progressive nature of the infection. There is no data on the prevalence of SFFIs in diabetic patients in Sri Lanka. Objective: To determine the etiological agents causing SFFI in patients with type 2 diabetes. Materials and Methods : Three hundred eighty five diabetic patients were included. Nail clippings and swabs were collected from the infected sites using the standard protocol. Laboratory identification was done and pathogens were identified to the species level by morpho physiological methods. Results: Clinically 295 patients showed SFFI, of which 255 (86%) were mycologically confirmed for infection. Out of 236 direct microscopy (KOH) positives, 227 (96%) were culture positive. Two hundred and fifty one patients (98%) with SFFI had diabetes for more than 10 years. Of the patients with SFFIs 92% had >100 mg/dl FBS and 81% had >140 mg/dl PPBS levels and 80% had both elevated FBS and PPBS. Non-dermatophyte fungal species were the commonest pathogens followed by yeast and dermatophytes. Conclusion: Aspergillus niger was the commonest pathogen followed by Candida albicans. SFFIs were seen significantly with the increasing age, gender, duration of diabetes and with less controlled glycaemic level

Correction: Outcomes among children and adults at risk of severe dengue in Sri Lanka: Opportunity for outpatient case management in countries with high disease burden.

[This corrects the article DOI: 10.1371/journal.pntd.0010091.]

Emergence of Epidemic Dengue-1 Virus in the Southern Province of Sri Lanka

10.1371/journal.pntd.0004995PLoS Neglected Tropical Diseases1010e000499

Evaluation of the WHO 2009 classification for diagnosis of acute dengue in a large cohort of adults and children in Sri Lanka during a dengue-1 epidemic

10.1371/journal.pntd.0006258PLoS Neglected Tropical Diseases122e000625