Development of a TaqMan-based dosage analysis PCR assay for the molecular diagnosis of 22q11.2 deletion syndrome.

A 1.5 to 3 Mb microdeletion of chromosome 22q11.2 with loss of multiple genes including histone cell cycle regulator (HIRA) causes 22q11.

Deferoxamine, deferasirox, and deferiprone triple iron chelator combination therapy for transfusion-dependent β-thalassaemia with very high iron overload: a randomised clinical trial.

Background: Many patients with β-thalassaemia die prematurely due to iron overload. In this study, we aim to evaluate the efficacy and safety of the triple combination of deferoxamine, deferasirox and deferiprone on iron chelation in patients with transfusion-dependent β-thalassaemia with very high iron overload.

Methods: This open-label, randomised, controlled clinical trial was conducted at Colombo North Teaching Hospital, Sri Lanka.

NKT cells promote Th1 immune bias to dengue virus that governs long-term protective antibody dynamics.

NKT cells are innate-like T cells, recruited to the skin during viral infection, yet their contributions to long-term immune memory to viruses are unclear. We identified granzyme K, a product made by cytotoxic cells including NKT cells, as linked to induction of Th1-associated antibodies during primary dengue virus (DENV) infection in humans. We examined the role of NKT cells in vivo using DENV-infected mice lacking CD1d-dependent (CD1ddep) NKT cells.

A large pericardial cystic lymphangioma presenting as acute-onset respiratory distress in a child: a case report.

Background: Lymphangiomas are rare benign malformations of the lymphatics that occur due to blockage of the lymphatic system during fetal development. They commonly occur in the neck and axilla, while involvement of the pericardium is rare. We report herein the case of a 16-month-old Sri Lankan child with a large pericardial cystic lymphangioma presenting with sudden-onset shortness of breath.

A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.

Background: Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location.

Case Presentation: A Sri Lankan boy with developmental delay and failure to thrive first presented at three years of age with hypovolaemia, hyperpigmentation and drowsiness.

Protocol for the Sri Lankan Cerebral Palsy Register pilot study.

Introduction: Cerebral palsy (CP) describes a heterogeneous group of motor disorders resulting from disturbance in the developing brain. CP occurs in approximately 2.1 per 1000 live births in high-income countries, but in low- and middle-income countries (LMICs) the prevalence and severity of CP may be greater and aetiological risk factors different.

Serum chymase levels correlate with severe dengue warning signs and clinical fluid accumulation in hospitalized pediatric patients.

Dengue induces a spectrum of severity in humans from the milder dengue fever to severe disease, or dengue hemorrhagic fever (DHF). Chymase is a candidate biomarker that may aid dengue prognosis. This prospective study aimed to identify whether warning signs of severe dengue, including hypovolemia and fluid accumulation, were associated with elevated chymase.

Descriptive Epidemiology of Congenital Clubfoot Deformity in Sri Lanka.

A retrospective descriptive study was conducted, based on database of Sri Lanka Clubfoot Program, under theInternational Clubfoot Registry. Patients with Clubfoot deformity treated at Orthopaedic unit of Lady Ridgeway Children's Hospital (LRCH), Sri Lanka were evaluated from June 2012 to March 2015. There were a total of 354 patients with male: female ratio of 2.

Acute meningoencephalitis associated with echovirus 9 infection in Sri Lanka, 2009.

The aetiology of acute meningoencephalitis in Sri Lankan children and adults is poorly understood. This study was carried out to determine pathogens responsible for meningoencephalitis in Sri Lanka. A hospital-based cross-sectional study was performed using cerebrospinal fluid samples (22 adult and 17 pediatric) collected from August to December 2009 from patients clinically diagnosed with acute meningoencephalitis at two tertiary care hospitals in Sri Lanka.

Burden of invasive pneumococcal disease (IPD) in Sri-Lanka: Deriving a reasonable measure for vaccine introduction decision making.

Purpose: The lack of evidence on the disease burden has been an obstacle for decision-making on introducing pneumococcal vaccines in Sri-Lanka. Hence, the purpose of this study is to determine the incidence of invasive pneumococcal disease among children under five-years of age in Sri-Lanka's Colombo district.

Methods: In a community-based study, using a sample of 2310 children, we identified syndromes associated with pneumococcal disease (pneumonia, meningitis, sepsis).