Carrier frequency of spinal muscular atrophy in Thailand.

Spinal muscular atrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Patients diagnosed with SMA develop symmetrical progressive muscle weakness and atrophy from degeneration of alpha motor neurons. Approximately 95% of patients have a homozygous deletion of survival motor neuron 1 (SMN1) gene in exon 7 and inherited in autosomal recessive pattern. Considering the high prevalence of SMA carrier in many population, it is possible that SMA is one of the most common autosomal recessive disorders in Thailand and Southeast Asia. In this study, we analyzed DNA from peripheral blood of 505 healthy Thai adults using quantitative PCR-based for SMN1 gene exon 7 copy number analysis. Individual samples with heterozygous deletion of SMN1 gene were confirmed with MLPA. The result identified 9 samples (1.78%) with heterozygous deletion and 39 samples as more than 2 copies of SMN1. No homozygous deletion was detected in the samples. In conclusion, we established carrier frequency of SMA in selected Thai population at 1.8% from 505 participants. The prevalence coincides with prevalence in East Asia and Caucasian population. The result could be implemented for SMA carrier screening in couples at risk in the region.

Genetic Risk Surveillance for Invasive Aspergillosis in Hematology Patients: A Prospective Observational Study.

INTRODUCTION: The association between genetic background and the risk of invasive aspergillosis (IA) has not been addressed in Thailand. We conducted genetic risk surveillance for IA among Thai hematologic patients. METHODS: We conducted a prospective observational cohort study including moderate- to high-risk hematology patients at Ramathibodi Hospital. IA occurrence, relevant clinical data, and genetic analyses were assessed. Odds ratios (ORs) of IA were assessed for the presence of the selected single nucleotide polymorphism genotype using logistic regression. RESULTS: A total of 357 patients were enrolled. The most common hematologic disease was non-Hodgkin lymphoma (45.1%). IA was diagnosed in 36 patients (10.10%). The C allele of IL10rs1800896 was associated with an increased risk of IA (adjusted OR 5.297; 95% confidence interval [CI] 2.032-13.809, p = 0.001). In multivariate Cox regression analysis, prolonged neutropenia and the C allele of IL10rs1800896 were associated with IA (hazard ratio [HR] 12.585; 95% CI 3.866-40.967, p < 0.001 and HR 2.449; 95% CI 1.097-5.468, p = 0.042, respectively). CONCLUSIONS: Carrying the C allele of IL10rs1800896 was associated with an increased risk of IA among moderate- to high-risk Thai patients with hematologic diseases. This finding can potentially lead to a novel risk stratification scheme to further prevent IA in resource-limited settings.

Luteinizing Hormone Receptor Gene and Regulator of G-protein Signaling 2 Gene Expression Level and Association with Oocyte Maturity in In vitro Fertilization/Intracytoplasmic Sperm Injection Cycle.

AIMS: The aim is to study the relation and distribution in gene expression level of the luteinizing hormone receptor (LHR) gene and regulator of G-protein signaling 2 (RGS2) gene expression with oocyte maturation. SETTING AND DESIGN: This cross-sectional study was undertaken in an instruction-based tertiary care infertility unit, department of obstetrics and gynecology. MATERIALS AND METHODS: After controlled ovarian hyperstimulation, cumulus granulosa cells (CCs) from 59 oocytes among 18 women being treated by in vitro fertilization/intracytoplasmic sperm injection cycle technique from November 2015 to January 2016 were collected on the day of oocyte retrieval. Total RNA was extracted and converted to cDNA in individual oocytes. LHR and RGS2 gene levels were measured and analyzed using digital droplet polymerase chain reaction. STATISTICAL ANALYSIS: Gene expression level was analyzed using software STATA, version 14.0 (College Station, TX: StataCorp LP, USA). RESULTS: CCs were obtained from 59 cumulus-oocyte complexes (COC), 46 COC from metaphase II (CCMII), 13 COC from metaphase I, and GV oocyte (CCMI + GV). The RGS2 gene expression level, when compared with the housekeeping gene in CCMII and CCMI + GV, was 0.15 (0.05-0.52) and 0.08 (0.02-0.27), respectively. The LHR gene expression when compared with the housekeeping gene in CCMII and CCMI + GV did not differ and was quite in the same value that was 0.02 (0.00-0.11) and 0.02 (0.00-0.06), respectively. CONCLUSION: This study showed that LHR gene expression did not differ in between oocyte groups. Even though the median of RGS2 gene expression was more in the mature oocyte group, the result was inconclusive due to scattering and overlapping of gene expression data between oocyte groups.

A rapid serologic test and immunoblotting for the detection of Helicobacter pylori infection in children.

The gold standard for the diagnosis of Helicobacter pylori infection requires an endoscopic biopsy of gastric mucosa for histological examination, urease test and culture. Noninvasive serological tests are useful as a screening test for H. pylori infection. The aim of this study was to evaluate the performance of a rapid office-based serologic test, using immunochromatography ICM, and the immunoblotting for the diagnosis of H. pylori infection in Thai children. Eighty-two symptomatic children, 30 boys and 52 girls (mean age 9.2+/-3.8 years; range, 1.2-16.0 years) who had no previous treatment for H. pylori underwent upper endoscopy. Biopsies were obtained from the gastric body and antrum for histopathology and rapid urease test. Serum samples collected from all patients were tested for H. pylori IgG antibodies using ICM (Assure H. pylori Rapid Test, Genelabs Diagnostics, Singapore). Immunoblotting (HelicoBlot 2.1, Genelabs Diagnostics, Singapore) was tested in sera of 75 patients to detect antibodies to specific antigens of H. pylori. Positive H. pylori status was defined as positive for both histology and rapid urease test. Of 82 patients, 25 (30.5%) were H. pylori positive, 56 (68.3%) were H. pylori negative and one was equivocal. ICM assay yielded a positive result in 24 of the 25 H. pylori-positive patients (96.0%) and 3 of the 56 H. pylori-negative patients (5.4%). The immunoblotting yielded a positive result in all of 22 H. pylori-positive patients (100%) and in 2 of the 52 H. pylori-negative patients (3.8%). Obtained ICM's sensitivity, specificity, positive predictive value, negative predictive value and accuracy were 96.0, 94.6, 88.9, 98.1 and 95.1%, with immunoblotting 100.0, 96.2, 91.6, 100.0, and 97.3%, respectively. The immunochromatographic and immunoblot tests are non-invasive, reliable and useful for the diagnosis of H. pylori infection in Thai children.