Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.

Hereditary spherocytosis (HS) is the most prevalent form of congenital hemolytic anemia, being caused by genetic mutations in genes encoding red blood cell cytoskeletal proteins. Mutations in the ANK1 and SPTB genes are the most common causes of HS.; however, pathogenicity analyses of these mutations remain limited.

The Association between Hepcidin and Iron Status in Children and Adolescents with Obesity.

Introduction: Iron deficiency (ID) is the most common nutritional deficiency found in pediatric practice. A higher prevalence of ID may be found in children with obesity. Obesity is a chronic low-grade inflammatory condition.

Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population.

Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study.

Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited.

Evaluating the performance of automated UV enzymatic assay for screening of glucose 6-phosphate dehydrogenase deficiency.

Introduction: A precise and reliable screening assay for glucose 6-phosphate dehydrogenase (G6PD) deficiency would greatly help avoiding unwanted outcomes due to bilirubin neurotoxicity in neonatal jaundice and antimalarial-induced haemolytic anaemia in malaria patients. Currently, available assays are laborious and require sophisticated laboratory expertise. This study aimed to evaluate the performance of a recently introduced automated screening assay for G6PD deficiency by comparing with a routine spectrophotometric assay.

An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on Parasitemia.

Background: The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against . Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of in Southeast Asian malaria patients in Thailand.

G6PD testing in support of treatment and elimination of malaria: recommendations for evaluation of G6PD tests.

Malaria elimination will be possible only with serious attempts to address asymptomatic infection and chronic infection by both Plasmodium falciparum and Plasmodium vivax. Currently available drugs that can completely clear a human of P. vivax (known as "radical cure"), and that can reduce transmission of malaria parasites, are those in the 8-aminoquinoline drug family, such as primaquine.

Deferiprone (GPO-L-ONE(®) ) monotherapy reduces iron overload in transfusion-dependent thalassemias: 1-year results from a multicenter prospective, single arm, open label, dose escalating phase III pediatric study (GPO-L-ONE; A001) from Thailand.

Accessibility to iron chelators including deferoxamine and deferasirox remains obscured in many developing countries. To provide an alternative, the government pharmaceutical organization of Thailand (GPO) manufactured deferiprone which has similar bioequivalent to the standard product. Seventy-three pediatric patients with severe β thalassemias, age range 3.

Obstructive sleep apnea among children with severe beta-thalassemia.

The aim of this study was to determine the prevalence and associated factors for obstructive sleep apnea (OSA) among children with severe beta-thalassemia. Children with severe beta-thalassemia without a history of bone marrow transplantation were studied. Polysomnography (PSG) was performed in those who habitually snored to identify OSA.

Gas exchange abnormality during sleep in non-snoring severe thalassemia children.

Objective: To study the prevalence and associated factors of gas exchange abnormality during sleep in non-snoring severe thalassemia children.

Material And Method: Non-snoring severe thalassemia children aged 6 to 15 years who had been followed up at King Chulalongkorn Memorial Hospital between June 2009 and March 2010 were studied. Overnight pulse oximetry and end-tidal carbon dioxide tension (P(ET)CO2) monitoring as well as pulmonary function tests were evaluated.

Childhood cancer incidence and survival 2003-2005, Thailand: study from the Thai Pediatric Oncology Group.

Background: Previous population-based incidences of childhood cancer in Thailand were achieved by extrapolating from data limited to a small number of cancer registries, not from the whole country. In addition, survival of childhood cancer patients is often described in specialized hospitals and/or institutions, but not in the general population.

Methods: All children aged 0-15 years who were newly diagnosed as having cancer were registered from 18 treatment centers during 2003-5 and classified into 12 diagnostic groups according to the International Classification of Childhood Cancer.

Natural course of low risk neuroblastoma.

Background: Neuroblastoma is characterized by heterogeneity of histology, biology, and clinical behavior. Most epidemiology studies are based on Western and Japanese populations; there are very few studies on neuroblastoma from Southeast Asia.

Procedure: Cases of Thai children with neuroblastoma were retrospectively reviewed to determine if the epidemiology of the disease differs from Western populations.

Phylogenetic analysis of serine proteases from Russell's viper (Daboia russelli siamensis) and Agkistrodon piscivorus leucostoma venom.

Serine proteases are widely found in snake venoms. They have variety of functions including contributions to hemostasis. In this study, five serine proteases were cloned and characterized from two different cDNA libraries: factor V activator (RVV-V), alpha fibrinogenase (RVAF) and beta fibrinogenase (RVBF) from Russell's viper (Daboia russelli siamensis), and plasminogen activator (APL-PA) and protein C activator (APL-C) from Agkistrodon piscivorus leucostoma.

Outcome of medulloblastoma in children treated with reduced-dose radiation therapy plus adjuvant chemotherapy.

Medulloblastoma is the most common malignant brain tumor in children. Post-surgical craniospinal irradiation (CSI; 30-36 Gy) plus local boost radiation therapy (RT; 54-56 Gy) is a standard treatment for children with medulloblastoma who are over 3 years old, resulting in a 5-year overall survival (OS) rate of 46% to 65% in average-risk patients and 50% in high-risk patients. The addition of chemotherapy has the benefit of reducing complications from radiation and improving the OS rate.

Comparative study of anticoagulant and procoagulant properties of 28 snake venoms from families Elapidae, Viperidae, and purified Russell's viper venom-factor X activator (RVV-X).

Snake venoms consist of numerous molecules with diverse biological functions used for capturing prey. Each component of venom has a specific target, and alters the biological function of its target. Once these molecules are identified, characterized, and cloned; they could have medical applications.

Heritability of the human infectious reservoir of malaria parasites.

Background: Studies on human genetic factors associated with malaria have hitherto concentrated on their role in susceptibility to and protection from disease. In contrast, virtually no attention has been paid to the role of human genetics in eliciting the production of parasite transmission stages, the gametocytes, and thus enhancing the spread of disease.

Methods And Findings: We analysed four longitudinal family-based cohort studies from Senegal and Thailand followed for 2-8 years and evaluated the relative impact of the human genetic and non-genetic factors on gametocyte production in infections of Plasmodium falciparum or P.

Economic burden of beta-thalassemia/Hb E and beta-thalassemia major in Thai children.

Background: Hemoglobin E beta-thalassemia (beta-thalassemia/Hb E) has a variable severity, and the cost of treatment has not been well studied. The aim of this study was to analyze the societal cost of caring for children with beta-thalassemias in Thailand. The study was designed as a prevalence-based cost-of-illness analysis in a societal perspective.

Factors affecting health-related quality of life in Thai children with thalassemia.

Background: Knowledge of the factors associated with health-related quality of life (HRQOL) among patients with thalassemia is essential in developing more suitable clinical, counseling, and social support programs to improve treatment outcomes of these patients. In light of the limited research in this area, this study aims to examine factors associated with HRQOL among children and adolescents with thalassemia in Thailand.

Methods: A cross-sectional survey was conducted in three selected hospitals in Thailand during June to November 2006.

Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency--the most common known enzymopathy--is associated with neonatal jaundice and hemolytic anemia usually after exposure to certain infections, foods, or medications. Although G6PD-deficient alleles appear to confer a protective effect against malaria, the link with clinical protection from Plasmodium infection remains unclear. We investigated the effect of a common G6PD deficiency variant in Southeast Asia--the G6PD-Mahidol(487A) variant--on human survival related to vivax and falciparum malaria.

Phospholipase A2 genes and their expressions in Thai Russell's viper venom glands.

Phospholipase A2 (PLA2) is a multi-functional enzyme found in many snake venoms and exists in several isoforms. PLA2 causes a variety of pathological effects including anticoagulant, edema, and platelet aggregation inhibition. Here, we reported the cDNA and gene sequences of PLA2 and their expressions in Thai Russell's viper (RV) Daboia russellii siamensis venom glands.

Folate pathway genetic polymorphisms and susceptibility of central nervous system tumors in Thai children.

Background: Folate is an important micronutrient molecule participating in DNA synthesis, methylation and repair mechanisms. Genetic polymorphisms in folate pathway related enzymes including methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, thymidylate synthase (TS) 28-bp tandem repeat, and reduced folate carrier (RFC) G80A have been shown to be associated with increased susceptibility for several cancers. The aim of the present study was to evaluate whether single nucleotide polymorphisms in the genes encoding enzymes of the folate pathway predispose to any CNS tumors in Thai children.

A scoring system for the classification of beta-thalassemia/Hb E disease severity.

Beta-thalassemia intermediate patients show a remarkable clinical heterogeneity. We examined the phenotypic diversity of 950 beta-thalassemia/Hb E patients in an attempt to construct a system for classifying disease severity. A novel scoring system based on six independent parameters, hemoglobin level, age at disease presentation, age at receiving first blood transfusion, requirement for transfusion, spleen size, and growth and development, was able to separate patients into three distinctive severity categories: mild, moderate, and severe courses.

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in Southeast Asians. G6PD mutations are associated with specific ethnic groups in Southeast Asia. Mon is a minority ethnic group in Myanmar, which speaks Monic, a distinct language of Mon-Khmer classification.

FlindersTechnology Associates (FTA) filter paper-based DNA extraction with polymerase chain reaction (PCR) for detection of Pneumocystis jirovecii from respiratory specimens of immunocompromised patients.

We evaluated the diagnostic value of Flinders Technology Associates (FTA) filter paper together with polymerase chain reaction (PCR) for detection of Pneumocystis jirovecii (carinii) from induced sputum (IS) and bronchoalveolar lavage fluid (BALF) samples. The study involved 162 patients with clinical diagnosis of pneumocystis pneumonia (PcP) of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) patients and other immunocompromised patients. P.

Transcutaneous bilirubin in the pre-term infants.

Objective: 1) To evaluate the accuracy of transcutaneous bilirubin (T(C)B) measurement compared to total serum bilirubin level (TSB) in the pre-term infants and 2) To establish cut-off values of T(C)B that indicated need for TSB.

Material And Method: Premature infants whose birth weight was more than 1,000 grams and gestational age less than 36 weeks had paired T(C)B-TSB assessment when jaundice was observed. T(C)B was done using JM 103 (Minolta AirShields Jaundice Meter) on the forehead.