Seksit Osatakul

Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome, an inborn error of metabolism, is an inherited syndrome caused by loss-of-function mutations in the SLC25A15, resulting in ornithine translocase1 (ORNT1) deficiency. Disrupted ornithine transportation in an affected individual usually manifests with the accumulation of intermediate metabolites, leading to neurological impairment, hepatitis, and/or protein intolerance at various ages of onset. In this paper, we report a compound heterozygous mutation in SLC25A15 from a 2-year-old girl who presented with neurological alterations and hepatic failure. Before developing neurological sequelae, she had signs of globally delayed development. The accumulation of toxic metabolites may explain these neurological consequences. After biochemical confirmation of HHH, whole-exome sequencing (WES) was performed, which identified mutations at codons 21 and 179 of SLC25A15 that are predicted to result in the loss of function of ORNT1. Each of the mutations was found to be inherited from one of her parents. After therapy, her toxic metabolites decreased significantly. In conclusion, HHH syndrome frequently manifests with nonspecific symptoms and unapparent biochemical profiles, which may lead to delayed diagnosis. Correction of the accumulating metabolites is necessary to prevent irreversible neurological impairment. Furthermore, performing a WES provides a shortcut for accurate diagnosis.

Background and Aim: There have been no large‐scale epidemiological study of functional constipation of pediatric gastroenterology services. This survey was undertaken to investigate the prevalence of functional constipation and magnitude of related problems in hospital settings of various countries as well as the practice of pediatric gastroenterologists in management of these conditions.Methods: The survey was conducted by sending questionnaires to members of Societies for Pediatric Gastroenterology Hepatology and Nutrition of various continents.Results: A total of 274 pediatric gastroenterologists from 41 countries participated in this study. Functional constipation accounted for overall 30% of patients attending pediatric gastroenterology outpatient clinics. In comparison with non‐western countries, respondents from western countries reported significantly higher median annual numbers of new patients with intractable functional constipation (10 [4,25] vs 5 [2,10], P < 0.001), dyssynergic defecation (3 [0,15] vs 1 [0,4], P < 0.001), and colonic inertia (2 [0,5] vs 0 [0,1], P < 0.001). The use of high dose polyethylene glycol for fecal disimpaction was significantly more commonly among respondents from western countries, whereas rectal enema was significantly more favored in non‐western countries. Respondents from different continents reported significant discrepancies in choices of investigations and management of patients with dyssynergic defecation and colonic inertia.Conclusions: Functional constipation is a major problem for pediatric gastroenterology outpatient services worldwide. There were significant variations in the investigations of choice and therapeutic management of functional constipation, intractable functional constipation, and related problems among pediatric gastroenterologists of different geographic regions.

Background: There has been no study to evaluate the use of the Rome III criteria for diagnosis of constipation in the unselected young pediatric population. The aim of this study was to evaluate and compare the use of the Rome II and Rome III criteria for diagnosis of constipation in a group of unselected young Thai children.Methods: This cross‐sectional study was conducted in 3010 healthy children aged 4 months–5 years who attended a well‐baby clinic. Data concerning bowel habits and behavioral components of defecation of the children were obtained by interviewing the parents. Presence of a large fecal mass in the rectum of children with possible constipation was evaluated by abdominal palpation.Results: Seventy‐one children (2.4%) were found to have constipation, based on at least one of the two sets of criteria, at the time of interview. The prevalence of constipation as defined according to the Rome II and Rome III criteria for functional constipation (FC) was 1.9% and 1.6%, respectively. The majority of constipated children (47.9%) met the diagnostic criteria of both the Rome II and Rome III for FC, followed by the Rome II criteria for FC alone (32.4%) and the Rome III criteria for FC alone (18.3%). Twenty‐one children (0.7%) whose parents reported defecation difficulties did not fulfill any diagnostic criteria for constipation.Conclusions: The prevalence of FC in young Thai children is low. For unselected young children, the Rome II criteria for FC are still appropriate for diagnosis of FC.

Visceral leishmaniasis (VL) caused by Leishmania siamensis is an emerging disease continuously reported in six southern provinces of Thailand. To date, the phylogenetic relationships among Leishmania isolates from Thai patients and other Leishmania species are still unclear and the taxonomic diversity needs to be established. In this study, the phylogenetic inference trees were constructed based on four genetic loci (i.e., SSU-rRNA, ITS1, hsp70, and cyt b), using DNA sequences obtained from autochthonous VL patients from southern Thailand and reference sequences of reported Leishmania isolates from other studies deposited in GenBank.

Although treatment with empirical antibiotics is recommended for dysenteric or invasive bacterial diarrhoea, overuse is common in clinical practice worldwide. Recent information on the use of antibiotics in Thai children with acute diarrhoea is lacking. To survey the appropriate use of empirical antibiotics in children with acute diarrhoea in hospitals in southern Thailand and evaluate the association between their use and clinical features. Outpatient medical records of children aged 2 months to 5 years with acute diarrhoea seen at ten hospitals in southern Thailand (five community and five general hospitals) during January to December 2004 were reviewed. Children with diarrhoeal symptoms lasting >7 days, who were immunocompromised, who had an underlying disease or whose medical records were inadequate were excluded. Appropriate use of empirical antibiotics was defined as: use of an antibiotic in a child with a history of bloody-mucous diarrhoea, who had a faecal WBC count of >10 cells/HPF, or no prescription of antibiotics in watery, non-bloody diarrhoea. There were 2882 patient encounters, 70% of which were children under 2 years of age. Invasive bacterial diarrhoea comprised 6.9% of the total number of cases. Of the 2882 patient encounters, 50.3%, 36.4% and 13.3% were seen by general practitioners, paediatricians or other medical personnel, respectively. Antibiotics had been used appropriately in 44.1% of cases. Of the 55.9% of cases identified as inappropriate use, 55.2% involved unnecessary antibiotic prescriptions in non-indicated cases. The prevalence of appropriate use was significantly higher in general hospitals than in community hospitals (51% vs 37.1%, p<0.05). Medical trainees were more likely to prescribe antibiotics more appropriately than staff physicians (76.9% vs 44.2%, p<0.05). Multivariate analysis showed that a history of fever (OR 1.25, 95% CI 1.04-1.50), watery-mucous stool (OR 2.54, 95% CI 1.94-3.32), mushy-mucous stool (OR 2.62, 95% CI 1.28-5.35), bloody-mucous stool (OR 6.97, 95% CI 4.17-11.64), stool frequency of 5-10 times/day (OR 1.41, 95% CI 1.16-1.70), body temperature 38.6-39.5 degrees C (OR 1.86, 95% CI 1.17-2.98) and a faecal WBC count of even 1-10 cells/HPF (OR 3.24, 95% CI 1.55-6.77) were associated with antibiotic use. Overuse of antibiotics in the treatment of acute diarrhoea in children is common. The prevalence differs between different levels of hospitals and different types of medical personnel. Physicians might mistake some patients' clinical features of diarrhoea as features of dysentery, leading to unnecessary prescription of antibiotics.