mBAT: a newly developed mobile application for self-screening of pediatric bleeding disorders - a multi-center study.

Bleeding assessment tools (BATs) are used by trained medical personnel for screening bleeding disorders on a one-to-one basis with patients; hence, they are time-consuming and limited in use for large-population screening. The aims of the study were to develop, validate, and demonstrate a Thai BAT mobile application (mBAT) for self-screening of bleeding disorders. mBAT was developed and validated using the paper-based Thai version of pediatric bleeding questionnaire (TPBQ).

The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for α-Thalassemia-1 Chiang Rai (--) Type Deletion with Hb Constant Spring.

Hemoglobin (Hb) H disease presents a wide range of clinical phenotypes, from asymptomatic to severe forms, depending on significant genetic heterogeneity. This is the first report of clinical and hematological features of the nondeletional HbH disease caused by --/αα. A baby was born to a father and a mother with -- and αα carriers, respectively.

Establishment of human induced pluripotent stem cell line MURAi001-A from skin fibroblasts of a patient carrying a c.4404A > G mutation in the TET1 gene.

Ten-Eleven Translocation methylcytosine dioxygenase 1 (TET1) is known to play a broad tumor suppressor role through demethylating and activating tumor suppressor genes. TET1 missense mutations are previously reported in many types of leukemia. Here, the human induced pluripotent stem cell line MURAi001-A was generated from skin fibroblasts derived from a 56-year-old female patient carrying the TET1 gene mutation c.

Comparison between natural rubber knee support and sponge knee support on the protection of knee joint: A crossover randomized controlled study among patients with bleeding disorders.

Background And Aims: Knee support, frequently made from sponge, is used to reduce injury. Sponge has less elasticity and durability compared with natural rubber. To our knowledge, there was no study that demonstrated the effectiveness of natural rubber and sponge in prevention of injury in children with bleeding disorders.

Considerations for instituting pediatric pulmonary embolism response teams: A tool kit.

The incidence of pediatric pulmonary embolism (PE) has increased by 200 % in the last decade, but at a single center, it is still infrequent. Given the unique epidemiologic features of pediatric PE, diagnosis is often delayed, and the management is empiric, based on individual physician experience or preference. Thus, there is a strong need for center-specific uniform management of pediatric PE patients.

Site-directed mutagenesis of tissue factor pathway inhibitor-binding exosite D60A on factor VII results in a new factor VII variant with lower coagulant activity.

Background: Recombinant factor (F)VIIa (rFVIIa) has been approved by the US Food and Drug Administration for the treatment of hemophilia A and B with inhibitors and congenital FVII deficiency. Moreover, the investigational uses of rFVIIa are becoming of interest since it can be used to treat various clinical bleeding conditions. However, there is evidence showing that rFVIIa is a potent procoagulant agent that potentially leads to an increased risk of thrombotic complications.

Clinical prediction tool to identify children at risk of pulmonary embolism.

Introduction: The diagnosis of pediatric pulmonary embolism (PE) is often delayed due to non-specific symptoms, and clinical prediction tools designed for adults are unsuitable for children. This study aimed to create a PE predictive model and to evaluate the reported tools in the Thai pediatric population.

Materials And Methods: A multi-center retrospective study from 4 university hospitals included children ≤18 years of age undergoing computed tomography pulmonary angiogram from 2000 to 2020 with the suspicion of PE.

National strategic advocacy to manage patients with inherited bleeding disorders in low and lower-middle income countries.

Introduction: Inherited bleeding disorders (IBDs) including hemophilia, von Willebrand disease, platelet disorders, mucocutaneous bleeding disorders and coagulation factor deficiencies are rarely found and under-recognized in low and lower-middle-income countries. Some patients succumbed to serious bleeding without diagnosis and treatment during childhood.

Area Covered: Diagnosis, management, and prevention should be integrated into the existing health care system.

Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations.

Background: Hemophilia cannot be diagnosed in most laboratories of economically less-developed countries leading to high mortality and morbidity rates.

Aim: A diagnostic tool was established ranging from bleeding assessment and a simple bedside test of mixing venous clotting time (VCT) to comprehensive DNA analysis for patients with hemophilia.

Methods: Patients with known (n=80) and suspected hemophilia (n=14) were included.

Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.

Aims: Von Willebrand disease (VWD) is an inherited haemostatic disorder with a wide range of bleeding phenotypes based on von Willebrand factor (VWF) levels. Multiple assays including gene analysis are employed to correctly diagnose VWD and its subtypes. However, data on mutations among Southeast Asian populations are lacking.

Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.

Red blood cell (RBC) membrane disorders represent a significant category of hereditary hemolytic anemia; however, information from Southeast Asia is limited. We established a national registry aiming to characterize RBC membrane disorders and their molecular features in Thailand. A total of 100 patients (99 kindreds) diagnosed with RBC membrane disorders between 2011 and 2020 from seven university hospitals were enrolled.

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.

Background: Congenital neutropenia is a rare disease. Recurrent infections since young age are the presentation. The most common mutation causing severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) is the ELANE gene.

Severity scoring system to guide transfusion management in pediatric non-deletional HbH.

Background: Hemoglobin (Hb) H is generally recognized as mild thalassemia, despite its actual phenotypic diversity. A disease severity scoring system to guide initiation of regular transfusion among severely affected pediatric patients has not previously been reported.

Methods: Patients with HbH were classified into transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) as a surrogate for disease severity.

Practices and challenges for hemophilia management under resource constraints in Thailand.

Hemophilia is an inherited bleeding disorder caused by deficiency of a specific coagulation factor. Factor VIII deficiency is responsible for hemophilia A while factor IX deficiency is responsible for hemophilia B. As per the 2020 annual global survey by the World Federation of Hemophilia, only 1828 Thai hemophiliacs have been registered to the national healthcare system.

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature.

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. We reported a 4-year-old girl who presented with a 1-year history of iron deficiency anemia. Her hemoglobin level increased from 6.

Long-term treatment outcomes of pediatric low-grade gliomas treated at a university-based hospital.

Purpose: A multimodality approach is generally considered for pediatric low-grade gliomas (LGG); however, the optimal management remains uncertain. The objective of the study was to evaluate treatment outcomes of pediatric LGG, focusing on long-term survival and factors related to outcomes.

Methods: A retrospective review of 77 pediatric LGG cases treated at Ramathibodi Hospital, Thailand between 2000 and 2018 was performed.

Effective T-cell replete haploidentical stem cell transplantation for pediatric patients with high-risk hematologic disorders.

Objectives: Patients with high-risk hematologic diseases require intensive modalities, including high-dose chemotherapy and allogeneic hematopoietic stem cell transplantation (allo-HSCT). Haploidentical T-cell-replete transplantation is a logical choice because of the limited availability of matched sibling donors and the prolonged time needed to identify matched unrelated donors in Thailand.

Methods: The clinical outcomes data of 43 patients undergoing allo-HSCT were reviewed.