The use of rapid DNA sequencing technology in severely ill children in developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome of Thai children and adults with unknown etiologies of critical illnesses with the deployment of rapid whole exome sequencing (rWES) in Thailand. We recruited 54 unrelated patients from 11 hospitals throughout Thailand. The median age was 3 months (range, 2 days–55 years) including 47 children and 7 adults with 52% males. The median time from obtaining blood samples to issuing the rWES report was 12 days (range, 5–27 days). A molecular diagnosis was established in 25 patients (46%), resulting in a change in clinical management for 24 patients (44%) resulting in improved clinical outcomes in 16 patients (30%). Four out of seven adult patients (57%) received the molecular diagnosis which led to a change in management. The 25 diagnoses comprised 23 different diseases. Of the 34 identified variants, 15 had never been previously reported. This study suggests that use of rWES as a first‐tier investigation tool can provide tremendous benefits in critically ill patients with unknown etiology across age groups in Thailand.

Background: Classic galactosemia is an inherited disorder of galactose metabolism that is caused by a deficiency of galactose-1-phosphate uridyl transferase (GALT). As in other Asians, the prevalence of galactosemia in Thai people is very low. An accumulation of its toxic metabolites leads to acute neonatal toxicity and long-term complications.Objective: To present the fourth known published case of classical galactosemia in a Thai infant and review the English language literature. Method: A 4-month-old boy who was born into a Thai family with no history of consanguinity developed persistent jaundice, hepatosplenomegaly, and lethargy, since introduction to breast-feeding. Result: Urine gas chromatography-mass spectrometry demonstrated a high level of galactose, galactitol, and galactonate. Liver biopsy confirmed severe hepatocellular damage and fibrosis. Breast-feeding was immediately replaced by a lactose-free diet and soy milk. His clinical features and subsequent laboratory measurements improved. Developmental delays and defects on speech presented at the last followed up. Conclusion: Long-term complications are diet-independent and inevitable. However early recognition and immediate withdraw of galactose from the diet can prevent serious morbidity and mortality.

Background: Daily evaluation of peak expiratory flow rate (PEFR) is quite useful for monitoring and adjusting an asthmatic patient's treatment. Many factors including geography, ethnicity, socio-economic conditions, gender, and anthropometric play a role in lung function differences studies have found. The aim of this study is to present normal PEFR and to establish a PEFR equation for Thai children living in a suburban environment. Methods: This study includes a cross-section of healthy children aged 6 to 18. It was conducted in Phitsanulok Province in the lower north of Thailand. The children were chosen to participate from five primary and secondary schools over the period from February 2014 to January 2015. The children were instructed on how to use the Wright peak flow meter (Clement Clarke International Ltd.). All of the participants performed PEFR 3 times and the highest value was recorded. Results: A total of 2,000 students were initially examined; 80 students were excluded from the study. A total of 1,920 healthy children were recruited between the ages of 6 and18 years. Among them, 719 (37.4%) were males and 1,201 (62.6%) were females. The median age was 18 [12][13][14][15][16][17][18] years old, mean height, weight, body mass index (BMI) and PEFR were 155.98±14.99 cm, 51.38±16.95 kg, 20.62±4.79 kg/m 2 and 339.31±113.55 L/min, respectively. PEFR has a linear relationship in regards age, weight, height and BMI. For males, age was the strongest factor associated with PEFR (r=0.838, P<0.001). Females had a highly significant correlation between height and PEFR (r=0.532, P<0.001). The regression equations are PEFR = (1.34 × height) + (1.41 × weight) + (16.56 × age) -137.88 for males (R 2 =0.751, P<0.001) and PEFR = (1.31 × height) + (0.94 × weight) + (7.30 × age) -55.27 for females (R 2 =0.507, P<0.001).Conclusions: This research study has provided the normal range of PEFR for Thai children aged from 6 to 18 years in Phitsanulok. The data was obtained using the Wright peak flow meter. Height, weight, and age were the significant determiners of the PEFR for each sex in the regression equation.

Salmonella enterica serovar Apeyeme is a rare pathogen that primarily affects poultry. However, there are limited data about this infection in humans. In this case, a 7-month-old infant presented with high-grade fever without diarrhea for 12 hours prior to admission. Upon admission, he developed seizures and was referred for further intervention. He was diagnosed with meningoencephalitis with complications of subdural effusion, empyema, and abscesses. Salmonella Apeyeme was found in cerebrospinal fluid culture, but no growth was detected in either blood or stool cultures. He was given meropenem, vancomycin, and ciprofloxacin, but later developed disseminated intravascular coagulation. His clinical condition deteriorated over time, and he died 18 days after admission. To conclude, Salmonella Apeyeme infection should be considered if a patient is diagnosed with meningoencephalitis and has a history of poultry exposure.

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