Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.

Hereditary tyrosinemia type 1 (HT1) is a genetic disorder of the tyrosine degradation pathway (TIMD) with unmet therapeutic needs. HT1 patients are unable to fully break down the amino acid tyrosine due to a deficient fumarylacetoacetate hydrolase (FAH) enzyme and, therefore, accumulate toxic tyrosine intermediates. If left untreated, they experience hepatic failure with comorbidities involving the renal and neurological system and the development of hepatocellular carcinoma (HCC).

A simple parasitological technique to increase detection of Strongyloides stercoralis in Bolivian primary health care system.

Background: Strongyloides stercoralis is widespread; however, there is limited information on its prevalence owing to laboratory underestimation and low clinical manifestations. The Baermann method and agar culture stand out among the parasitological techniques. Strongyloides stercoralis is present in Bolivia, but its prevalence in children remains unknown.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients.

Geographic differences in the distribution of parasitic infections in children of Bolivia.

Background: A high percentage of the population in Latin America lives with intestinal parasitic infections, a neglected tropical disease frequently not treated. Intestinal parasitism is associated with other disorders, but information about the epidemiological situation in countries like Bolivia is scarce. Environmental conditions play a role in the prevalence of certain parasites.

Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.

Hereditary tyrosinemia type 1 (HT1) is an inherited condition in which the body is unable to break down the amino acid tyrosine due to mutations in the fumarylacetoacetate hydrolase (FAH) gene, coding for the final enzyme of the tyrosine degradation pathway. As a consequence, HT1 patients accumulate toxic tyrosine derivatives causing severe liver damage. Since its introduction, the drug nitisinone (NTBC) has offered a life-saving treatment that inhibits the upstream enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD), thereby preventing production of downstream toxic metabolites.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

Background: Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.

Is a semi-elemental diet better than a polymeric diet after congenital heart surgery?

A retrospective observational study has been set up in order to compare feeding tolerance and energy delivery in children fed with a semi-elemental diet or a polymeric diet after congenital heart surgery. The study took place in the intensive care unit of a tertiary children's hospital. One hundred children were included: 56 received a semi-elemental diet and 44 received a polymeric diet.

Evaluation of nutritional care of hospitalized children in a tertiary pediatric hospital.

Background And Aims: Hospitalized children are at risk of malnutrition. The aim of the present study was to evaluate a clinical practice in a tertiary hospital. The nutritional team developed a specific software for screening of malnutrition and risk of malnutrition (Evalnut) that provides also recommendations for the nutritional management of the patient.

Interest of Anorectal Manometry During Long-term Follow-up of Patients Operated on for Hirschsprung's Disease.

Background/aims: Although many advances in the management of Hirschsprung's disease have recently been achieved, postoperative outcomes of these patients remain difficult in a non-negligible number of cases. Therefore, this study aims at investigating characteristics of anorectal manometry and its relationship with postoperative outcomes during long-term follow-up in Hirschsprung patients.

Methods: Patients over 4 years of age operated on for Hirschsprung's disease were interviewed to complete detailed questionnaires on bowel function.

Misuse of antenatal care and its association with adverse outcomes of pregnancy in a Southern rural area of Vietnam.

Researchers in Vietnam reported a high percentage of pregnant women attending ANC at least once, but an insufficient utilization of ANC services remains. The evidence demonstrating how the utilization of these services affect pregnancy outcome is not documented in Vietnam. We investigated the association between the misuse of ANC services and pregnancy outcome, and assessed other determinants associated with ANC services utilization.

Long-Term Outcomes and Quality of Life in Patients after Soave Pull-Through Operation for Hirschsprung's Disease: An Observational Retrospective Study.

Introduction:  Patients after pull-through operation for Hirschsprung's disease (HD) are at high risk of defecation disorders. This study aimed at investigating their long-term outcomes and quality of life (QoL) in comparison with controls.

Patients And Methods:  Patients older than 5 years operated on for HD were interviewed to complete detailed questionnaires on bowel function.

Rectal suction biopsy with calretinin immunohistochemistry in patients suspected with residual aganglionosis after operation for Hirschsprung disease.

Introduction: This study investigates the use of rectal suction biopsy (RSB) with calretinin immunohistochemical staining (CIS) in patients suspected of having abnormally innervated bowel after pull through operation for Hirschsprung disease (HD).

Method: This study was conducted in Children's Hospital 2, Ho Chi Minh City from January 2015 through June 2016. Patients suspected with abnormally innervated bowel after pull through operation for HD were submitted for a RSB with CIS.

Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung's disease.

Background: The study investigates the diagnostic value of calretinin immunohistochemical staining (CIS) on rectal suction biopsies (RSB) in Hirschsprung's disease (HD).

Methods: A prospective study was conducted at Children's Hospital 2 in Ho Chi Minh City, Vietnam, from January through December 2015. Patients suspected of HD during this period underwent RSB and were followed in order to assess the accuracy of the diagnostic test with CIS compared with conventional histology (H&E).

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.

Background: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems, but recent data indicate that HT1 patients have neurocognitive problems.

Effect of calcium and vitamin D on growth, rickets and Kashin-Beck disease in 0- to 5-year-old children in a rural area of central Tibet.

Objective: To evaluate the effect of calcium (15 mmol/day) and vitamin D (625 μg/month), as single supplement or in combination, vs. no supplement on growth, clinical signs of rickets and Kashin-Beck disease (KBD) and dental health.

Methods: Prospective controlled trial involving children aged 0-5 years living in four groups of villages in a KBD-endemic rural area of central Tibet who received either calcium and/or vitamin D or no supplement.

Current status and actual need for pediatric liver transplantation in Southern Vietnam.

Liver transplantation (LT) has considerably improved the outcome of patients with end-stage liver disease, especially in children. The first pediatric LT in Vietnam was performed in 2004. To assess the current need for pediatric LT in Southern Vietnam, a total of 280 patients with chronic liver disease followed at Children's Hospital 2 (Ho Chi Minh City), the only pediatric LT center in this region, were evaluated from January 2009 to June 2014.

Effects of thirty elements on bone metabolism.

The human skeleton, made of 206 bones, plays vital roles including supporting the body, protecting organs, enabling movement, and storing minerals. Bones are made of organic structures, intimately connected with an inorganic matrix produced by bone cells. Many elements are ubiquitous in our environment, and many impact bone metabolism.

Key features and clinical variability of COG6-CDG.

The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable severity. So far, 3 families with a total of 10 individuals with biallelic COG6 mutations have been described, showing a broad clinical spectrum.

More training and awareness are needed to improve the recognition of undernutrition in hospitalised children.

Aim: Reports suggest that 10% of hospitalised children in Europe are undernourished. We investigated whether nutritional screening tools (NST) were used in Belgian secondary-level hospitals, examined strategies for detecting undernutrition and identified barriers preventing the systematic management of undernutrition.

Methods: A nationwide questionnaire-based survey of paediatric departments in Belgian secondary-level hospitals was carried out from September 2013 to February 2014.

Nutritional status of children hospitalized for parapneumonic effusion.

Background & Aims: Among children hospitalized for pneumonia, those with parapneumonic effusion (PPE) are at particular risk for nutritional deterioration. This study aimed to 1) investigate the evolution of the nutritional status during hospitalization and at outpatient follow-up; 2) determine clinical risk factors for weight loss during hospitalization; 3) describe the nutritional interventions for these children.

Methods: Retrospective chart review (January '07 - September '12) of 56 children with pneumonia, complicated by PPE in two Belgian hospitals for data on body weight and height at admission (t0) and discharge (t1), and two weeks (t2) and one month (t3) after discharge.

Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.

Acute hyperammonemia has a variety of etiologies and clinical manifestations. If not treated early in neonates, it leads to irreversible brain damage or death. We present a 7-day-old female patient who was brought to the emergency department with drownsiness and vomiting.

Associations of IGF-1 gene variants and milk protein intake with IGF-I concentrations in infants at age 6 months - results from a randomized clinical trial.

Objective: The interplay of genetic and nutritional regulation of the insulin-like growth factor-I axis in children is unclear. Therefore, potential gene-nutrient effects on serum levels of the IGF-I axis in a formula feeding trial were studied.

Design: European multicenter randomized clinical trial of 1090 term, formula-fed infants assigned to receive cow's milk-based infant and follow-on formulae with lower (LP: 1.

Does insulin-like growth factor-1 mediate protein-induced kidney growth in infants? A secondary analysis from a randomized controlled trial.

Background: Animal models have shown that insulin-like growth factor I (IGF-I) may mediate protein-induced kidney growth. Our aim was to analyze the effect of IGF-I on protein-induced kidney growth in healthy infants.

Methods: This is a secondary analysis of a randomized trial that compared growth of infants fed with a higher-protein (HP) (n = 169) vs.

Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease.

Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild liver dysfunction.