Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.

Background: Thus far, genetic analysis of patients clinically diagnosed with glycogen storage diseases (GSDs) in Thailand has not been reported.

Aim: To evaluate the clinical and biochemical profiles, molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD.

Methods: Children aged < 18 years diagnosed with hepatic GSD and followed up at King Chulalongkorn Memorial Hospital were recruited.

Progressive colonic stenosis in an infant: Successful treatment with endoscopic balloon dilation.

Acquired colonic stenosis is extremely rare in infants and surgical resection is the mainstay of treatment. Endoscopic balloon dilation has shown success in treating bowel stenosis from inflammatory bowel disease but its application in infants with colonic strictures of other origin has not been widely explored. We report a 4-week-old male infant who developed significant abdominal distension due to progressive colonic stenosis, occurring 2 weeks following balloon valvuloplasty for his severe valvular pulmonary stenosis.

Diseases of bile duct in children.

Several diseases originate from bile duct pathology. Despite studies on these diseases, certain etiologies of some of them still cannot be concluded. The most common disease of the bile duct in newborns is biliary atresia, whose prognosis varies according to the age of surgical correction.

Cranial ultrasound performance assessment tool: development and validation.

Aim: A standard assessment tool for direct evaluation of procedural skills to ensure proficiency of trainees is necessary for cranial ultrasound (US) in clinical practice. This study created and validated an assessment tool for cranial US performance by radiologists.

Material And Methods: An initial evaluation tool for cranial US using criteria was developed based on existing literature.

Cohort analysis of pediatric intussusception score to diagnose intussusception.

Background: Intussusception is a primary cause of intestinal obstruction in young children. Delayed diagnosis is associated with increased morbidity. Ultrasonography (USG) is the gold standard for diagnosis, but it is operator dependent and often unavailable in limited resource areas.

Pediatric liver transplantation outcomes from a single center in Thailand.

Background: Liver transplantation (LT) has become an acceptable curative method for children with several liver diseases, especially irreversible acute liver failure and chronic liver diseases. King Chulalongkorn Memorial Hospital is one of Thailand's largest liver transplant centers and is responsible for many pediatric cases.

Aim: To report the experience with pediatric LT and evaluate outcomes of living-related deceased-donor grafts.

Liver tumors in children with chronic liver diseases.

Liver tumors are rare in children, but the incidence may increase in some circumstances and particularly in chronic liver diseases. Most liver tumors consequent to chronic liver diseases are malignant hepatocellular carcinoma. Other liver tumors include hepatoblastoma, focal nodular hyperplasia, adenoma, pseudotumor, and nodular regenerative hyperplasia.

Factors affecting high cumulative radiation exposure from paediatric computed tomography.

Purpose: To estimate occurrence rate of high cumulative radiation exposure from paediatric computed tomography (CT), and to determine influential factors on high-dose inclination.

Material And Methods: Patients below 18 years old receiving at least 50 mSv of a cumulative dose during a 5-year period in a tertiary care centre were retrospectively enrolled. Individual patient characteristics, diagnoses, frequency of exa-minations, scanner sites, designated scans, and effective doses were recorded.

The Prevalence of Nonalcoholic Fatty Liver Disease and Its Risk Factors in Children and Young Adults with Type 1 Diabetes Mellitus.

Objectives: To determine the prevalence of nonalcoholic fatty liver disease (NAFLD) and its associated risk factors in children and young adults with type 1 diabetes (T1D).

Study Design: A cross-sectional study was conducted at a tertiary care center in children and young adults with T1D. Liver fat quantification and hepatic fibrosis were assessed by magnetic resonance imaging proton density fat fraction and magnetic resonance elastography (MRE).

Clinical significance of incidentally discovered renal cysts in pediatric patients.

Purpose: To determine the clinical significance of incidentally discovered renal cysts in pediatric patients and identify imaging predictors of autosomal dominant polycystic kidney disease (ADPKD).

Methods: A retrospective search of radiology reports from 2000 to 2016 was performed to identify patients < 18 years old with an imaging exam identifying at least one renal cyst and a ≥ 1-year follow-up renal imaging exam for cyst evaluation and/or diagnosis of ADPKD. Cysts with clear solid mass components were excluded.

Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) (OMIM 614875) is a severe chondrodysplasia combined with a urinary excretion of D-2-hydroxyglutaric acid. Here, we reported the tenth case of this disease. A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and platyspondyly.