Hepatopulmonary syndrome in biliary atresia children increased postoperative complications after liver transplantation.

Background: Hepatopulmonary syndrome (HPS) is a complication in biliary atresia (BA) children following hepatoportoenterostomy. Liver transplantation (LT) was the definitive treatment of HPS. However, little was known about the risk factors between HPS and mortalities.

The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients.

Background: Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS's extensive impact on the entire brain.

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.

Purpose: The study aimed to describe central nervous system (CNS) progression in patients with infantile-onset Pompe disease (IOPD) and explore the potential clinical impact and predictors.

Methods: Patients with IOPD treated with enzyme replacement therapy were longitudinally followed with brain magnetic resonance imaging (MRI) and evaluation for IQ scores from 2004 to 2021. Investigation of CNS involvement focused on white matter (WM) abnormalities and was quantified using a scoring system for metachromatic leukodystrophy.

Diagnostic Performance of Transient Elastography in Biliary Atresia Among Infants With Cholestasis.

Biliary atresia (BA) is a challenging liver disease in infancy. Early diagnosis of BA is important for timely hepatoportoenterostomy. We evaluated the age-specific diagnostic performance of transient elastography (TE) with a liver stiffness measurement (LSM) greater than 7.

Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency.

Objective: Children with aromatic l-amino acid decarboxylase (AADC) deficiency suffer from severe motor dysfunction. Restoration of dopamine levels in the putamen by gene therapy has led to significant improvement in motor function. This study explored brain structure changes in patients.

Disease-free survival assessment by artificial neural networks for hepatocellular carcinoma patients after radiofrequency ablation.

Background/purpose: Radiofrequency ablation (RFA) provides an effective treatment for patients who exhibit early hepatocellular carcinoma (HCC) stages or are waiting for liver transplantation. It is important to assess patients after RFA. The goal of this study was to build artificial neural network models with HCC-related variables to predict the 1-year and 2-year disease-free survival (DFS) of HCC patients receiving RFA treatments.

Outcome of early-treated type III Gaucher disease patients.

Recombinant human acid β-glucosidase GBA (rhGBA) infusion is an effective therapy for non-neuropathic (type I) Gaucher disease (GD), but its effect on subacute neuropathic (type III) GD is still controversial. The most common genotype for type III GD is homozygous c.1448T>C (p.

Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.

Background: Patients with severe osteogenesis imperfecta (OI; MIM number 259420) suffer from low bone mass, fractures, and bone pain since birth, and have poor prognosis. This study assessed the outcome of patients with severe OI who were treated with cyclic pamidronate prior to the age of 1 year.

Methods: The six patients, who had bone fractures either in utero or in their 1st month of life, were treated with cyclic pamidronate from a mean age of 2.

Spatial repolarization heterogeneity detected by magnetocardiography correlates with cardiac iron overload and adverse cardiac events in beta-thalassemia major.

Background: Patients with transfusion-dependent beta-thalassemia major (TM) are at risk for myocardial iron overload and cardiac complications. Spatial repolarization heterogeneity is known to be elevated in patients with certain cardiac diseases, but little is known in TM patients. The purpose of this study was to evaluate spatial repolarization heterogeneity in patients with TM, and to investigate the relationships between spatial repolarization heterogeneity, cardiac iron load, and adverse cardiac events.

Risk for tuberculosis in child contacts. Development and validation of a predictive score.

Rationale: Contact investigation of persons exposed to tuberculosis (TB) is resource intensive. To date, no clinical prediction rule for TB risk exists for use as a guide during contact investigation.

Objectives: We sought to develop and validate a simple and easy-to-use predictive score for TB risk, using data routinely available during contact investigation.

Clinical characteristics of central diabetes insipidus in Taiwanese children.

Background/purpose: Data on the clinical features of children with central diabetes insipidus (CDI) are lacking in Taiwan. This study investigated the clinical manifestations and etiology of CDI in Taiwanese children.

Methods: From 1983 to 2012, 62 children with permanent diabetes insipidus were enrolled in the study.

Relationship of neonatal cerebral blood flow velocity asymmetry with early motor, cognitive and language development in term infants.

The objective of this study was to examine the relationships of Doppler cerebral blood flow velocity (CBFV) asymmetry measures with developmental outcomes in term infants. Doppler CBFV parameters (peak systolic velocity [PSV] and mean velocity [MV]) of the bilateral middle cerebral arteries of 52 healthy term infants were prospectively examined on postnatal days 1-5, and then their motor, cognitive and language development was evaluated with the Bayley Scales of Infant and Toddler Development, Third Edition, at 6, 12, 18 and 24 months of age. The left CBFV asymmetry measure (PSV or MV) was calculated by subtracting the right-side value from the left-side value.

Promising outcomes in glutaric aciduria type I patients detected by newborn screening.

Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of patients detected through newborn screening.

A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.

Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, Fanconi syndrome, lactic acidosis, and acute encephalopathy.

Computed tomography indices and criteria for the prediction of esophageal variceal bleeding in survivors of biliary atresia awaiting liver transplantation.

Background/objective: About 20% of biliary atresia (BA) survivors have attacks of esophageal variceal bleeding. We propose a method to evaluate the risk of esophageal variceal bleeding (EVB) using noninvasive indices by multislice computed tomography (CT).

Methods: We reviewed 31 potential living-related liver recipients aged 99-5314 days (mean, 1474 days) who underwent CT examinations using a 64-slice multislice CT scanner.

Effects of propranolol on the left ventricular volume of normal subjects during CT coronary angiography.

Objective: The purpose of this study is to determine the effects of propranolol on the left ventricular (LV) volume during CT coronary angiography.

Materials And Methods: The LV volume of 252 normal Chinese subjects (126 subjects with propranolol medication and 126 age- and gender-matched Chinese subjects without medication) was estimated using 64 slices multi-detector CT (MDCT). The heart rate difference was analyzed by the logistic linear regression model with variables that included gender, age, body height, body weight, systolic blood pressure (SBP), diastolic blood pressure (DBP) and the dosage of propranolol.

Congenital hypopituitarism due to POU1F1 gene mutation.

POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin deficiency and various degree of hypothyroidism. We report here a patient who presented with growth failure and central hypothyroidism since early infancy. However, treatment with thyroxine gave no effect and he subsequently developed calf muscle pseudohypertrophy (Kocher-Debre-Semelaigne syndrome), elevation of creatinine kinase, dilated cardiomyopathy and pericardial effusion.

Neonate with severe heart failure related to vein of Galen malformation.

We report a full-term female neonate who presented with respiratory distress and severe heart failure soon after birth. Heart failure secondary to perinatal infection was initially suspected. Subsequent echocardiography revealed aortic runoff, which led to consideration of an intracranial vascular abnormality.

Implication of early-onset biliary atresia and extrahepatic congenital anomalies.

Background: The aim of the present study was to determine the rate of early-onset biliary atresia (BA) and its implications, for embryonic-type BA in Taiwan, a high-prevalence area for BA. The relationship between the timing of disease onset and congenital extrahepatic anomalies was also identified.

Methods: Medical records of 130 infants born in Taiwan with biliary atresia between January 1996 and December 2005 were reviewed retrospectively.

Schizencephaly in LEOPARD syndrome.

We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y279G mutation in exon 7 of the PTPN11 gene. The presence of LEOPARD syndrome was confirmed by a genetic study and clinical phenotypes.

Neuroimaging findings in children with paediatric neurotransmitter diseases.

Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to gamma-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for paediatricians and child neurologists. In addition to clinical manifestations and CSF neurotransmitter measurement, neuroimaging findings can also be very informative for the diagnosis and evaluation of the patients.

Brain damage by mild metabolic derangements in methylmalonic acidemia.

Methylmalonic acidemia caused by an l-methylmalonyl-CoA mutase deficiency. The mut(0) type is associated with significant mortality and morbidity, but tandem mass spectrometry has made early detection possible. Five patients were identified through newborn screening for elevated propionylcarnitine (C3-carnitine) levels.

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

The primary manifestations of Pompe disease are muscle weakness and cardiomyopathy. Although accumulation of glycogen has also been seen in the nervous system in patients, the significance of brain involvement in infantile-onset Pompe disease is not clear. In this study, brain development in five cases of infantile-onset Pompe disease, whose survivals have been prolonged by enzyme replacement therapy (ERT), were studied by brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS).

Acremonium pyomyositis in a pediatric patient with acute leukemia.

Invasive Acremonium infection in humans is rare. We report a patient with leukemia who developed pyomyositis due to Acremonium species. Painful cutaneous nodules and severe myalgia were the first clinical manifestations during the neutropenic stage after chemotherapy.

Childhood severe acute respiratory syndrome in Taiwan and how to differentiate it from childhood influenza infection.

Objective: To investigate clinical features and outcomes of children in Taiwan with laboratory-confirmed severe acute respiratory syndrome (SARS) vs those of children with influenza to differentiate the 2 diseases.

Design, Setting, And Participants: Patients 20 years or younger with clinical, epidemiological, and laboratory evidence of SARS from March to July 2003 vs children with virus culture-confirmed influenza in a 1:1 age- and sex-matched control group.

Main Outcome Measures: Rates of symptoms, abnormal laboratory data, and outcomes of recovery, sequelae, or death.