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1.
Am J Med Genet A ; 194(8): e63634, 2024 08.
Article in English | MEDLINE | ID: mdl-38619072

ABSTRACT

Feeding difficulties, aspiration, and failure to thrive in infancy are commonly seen in patients with Prader-Willi Syndrome (PWS) and attributed to hypotonia. Patients with PWS and laryngeal clefts were identified by review of medical records at three tertiary care children's hospitals between 2017 and 2022. We present three patients with PWS with feeding difficulties who were also found to have laryngeal clefts which likely contributed to their feeding difficulties. Additional factors such as airway anomalies should be considered in patients with PWS, especially when swallowing dysfunction, dysphagia, or abnormal swallow evaluations are present.


Subject(s)
Larynx , Muscle Hypotonia , Prader-Willi Syndrome , Humans , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Prader-Willi Syndrome/pathology , Muscle Hypotonia/genetics , Muscle Hypotonia/pathology , Female , Male , Infant , Larynx/abnormalities , Larynx/pathology , Larynx/physiopathology , Child, Preschool , Deglutition Disorders/etiology , Deglutition Disorders/diagnosis , Congenital Abnormalities
2.
Am J Med Genet A ; 194(6): e63546, 2024 06.
Article in English | MEDLINE | ID: mdl-38303141

ABSTRACT

Guidance on indications for, and types of, feeding tubes recommended in Prader-Willi syndrome (PWS) is needed. A Global PWS Registry survey was developed to investigate nasogastric (NG) and gastrostomy (G) tube use and associated complications. Of 346 participants, 242 (69.9%) had NG-tubes, 17 (4.9%) had G-tubes, and 87 (25.1%) had both NG- and G-tubes. Primary indication for placement was "feeding difficulties and/or poor weight gain" for both NG- (90.2%) and G-tubes (71.2%), while "aspiration/breathing difficulties" was the procedural indication for 6.4% of NG-tubes and 23.1% of G-tubes. NG-tubes were generally removed by age 6 months (NG Only: 82.9%; NG/G: 98.8%), while G-tubes were often removed by age 2 years (G Only: 85.7%; NG/G: 70.5%). The severe complication rate from G-tubes was 31.7% and from NG-tubes was 1.2%. Overall, caregivers indicated the presence of an NG- or G-tube had a positive effect on quality of life. Feeding difficulties in PWS are largely managed by NG-tube alone. The severe complication rate from G-tubes was about 25 times higher than from NG-tubes; yet, G-tube placement rates have generally increased. G-tube placement puts individuals with PWS at risk for anesthesia and surgery-related complications and should be considered judiciously by a multidisciplinary team.


Subject(s)
Enteral Nutrition , Intubation, Gastrointestinal , Prader-Willi Syndrome , Registries , Humans , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/epidemiology , Female , Male , Child, Preschool , Child , Infant , Intubation, Gastrointestinal/adverse effects , Enteral Nutrition/adverse effects , Adolescent , Gastrostomy/adverse effects , Adult , Young Adult
3.
Article in English | MEDLINE | ID: mdl-39282813

ABSTRACT

OBJECTIVES: Metabolic dysfunction-associated steatotic liver disease (MASLD) is common in children. We hypothesized environmental toxins could drive progression to metabolic dysfunction-associated steatohepatitis (MASH), and assayed serum toxins and metabolites in children with histologically characterized MASLD/MASH. METHODS: Environmental chemicals, common in household items, perfluoroalkyl substances (PFAS), brominated flame retardants (PBDEs), and metabolic profiles were assayed in children enrolled in the multicenter NASH Clinical Research Network Pediatric Database 2. Mixture models, using repeated holdout weighted quantile sum regression (WQSrh) were run in addition to single chemical/metabolite logistic regression. For metabolomic analyses, random subset version of WQSrh was used for the large number of predictors versus participants. Nominal and false discovery rate (FDR) p-values (two-sided) were computed. RESULTS: Four hundred and thirty-five children distributed across MASH (n = 293) and MASLD (n = 142), with 304 (69.9%) males. Mean (standard deviation) for Nonalcoholic Steatohepatitis Score (NAS) and alanine aminotransferase (ALT) for MASLD were 3.1 (1.0), 67.9 (43.4), and for MASH 4.2 (1.4), 144 (121). There was an inverse association between PFAS/PBDE mixture and MASH versus MASLD, lobular inflammation (p = 0.026), NAS (p = 0.009, FDR p = 0.04), and log-transformed ALT (p = 0.005, FDR p = 0.025) driven by perfluorohexane sulfonate (PFHxS). Metabolites from positive hydrophilic interaction liquid chromatography mode, biliverdin (p = 0.002) and 1-methylhistidine (associated with meat ingestion, p = 0.02) and reverse phase negative mode, hippuric acid (solvent exposure, p = 0.022) significantly associated with MASH. CONCLUSIONS: Significant negative PFAS/PBDE mixture effect and odds of MASH were dominated by PHFXS. Several metabolites are significantly associated with MASH which inform mechanistic pathways and could drive key therapeutic and diagnostic strategies in children.

4.
Am J Med Genet A ; 188(5): 1457-1463, 2022 05.
Article in English | MEDLINE | ID: mdl-35098642

ABSTRACT

Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypotonia and poor feeding in infancy which progresses to hyperphagia in early-mid childhood, as well as developmental delays, a spectrum of behavioral and psychiatric concerns, endocrinopathies, orthopedic issues, and less commonly, seizures, sleep apnea, and narcolepsy with or without cataplexy. This study used data in the Global PWS Registry (N = 893) to explore the onset and severity over time of the neuropsychiatric features reported in individuals with PWS and explored its associations with sleep disorders, seizures, and psychiatric symptoms. Results demonstrate that seizures are more common in the deletion subtype and that narcolepsy and cataplexy are more common in individuals who have sleep-related seizures. Finally, this work shows that anxiety and compulsive behaviors are persistent features of PWS that may arise early in childhood, and that anxiety is associated with higher frequency of other comorbid psychiatric diagnoses. In conclusion, this study is one of the largest to date characterizing sleep disorders and neuropsychiatric characteristics of individuals with PWS and reports on the novel association between sleep disorders and seizures. This study is also one of the first to offer details on the nature of the progression of these features in individuals with PWS.


Subject(s)
Cataplexy , Narcolepsy , Prader-Willi Syndrome , Anxiety Disorders , Cataplexy/complications , Child , Humans , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/epidemiology , Seizures/complications , Seizures/epidemiology
5.
Gastroenterology ; 159(5): 1731-1751.e10, 2020 11.
Article in English | MEDLINE | ID: mdl-32712103

ABSTRACT

BACKGROUND & AIMS: Nonalcoholic fatty liver disease (NAFLD) is the most common pediatric chronic liver disease. Little is known about outcomes in recognized youth. METHODS: We compared paired liver biopsies from 122 of 139 children with NAFLD (74% male; 64% white; 71% Hispanic; mean age, 13 ± 3 years; age range, 8-17 years) who received placebo and standard of care lifestyle advice in 2 double-blind, randomized clinical trials within the nonalcoholic steatohepatitis (NASH) clinical research network from 2005 through 2015. We analyzed histologic changes with respect to baseline and longitudinal change in clinical variables using regression analysis. RESULTS: At enrollment, 31% of the children had definite NASH, 34% had borderline zone 1 NASH, 13% had borderline zone 3 NASH, and 21% had fatty liver but not NASH. Over a mean period of 1.6 ± 0.4 years, borderline or definite NASH resolved in 29% of the children, whereas 18% of the children with fatty liver or borderline NASH developed definite NASH. Fibrosis improved in 34% of the children but worsened in 23%. Any progression to definite NASH and/or in fibrosis was associated with adolescent age, and higher waist circumference, levels of alanine or aspartate aminotransferase, total and low-density lipoprotein cholesterol at baseline (<0.05), and over follow-up time, with increasing level of alanine aminotransferase, hemoglobin A1C (P<.05), gamma-glutamyl transferase and development of type 2 diabetes (P<.01). Increasing level of gamma-glutamyl transferase was also associated with reduced odds of any improvement (P = .003). CONCLUSIONS: One-third of children with NAFLD enrolled in placebo groups of clinical trials had histologic features of progression within 2 years, in association with increasing obesity and serum levels of aminotransferases and loss of glucose homeostasis.


Subject(s)
Healthy Lifestyle , Non-alcoholic Fatty Liver Disease/therapy , Risk Reduction Behavior , Adolescent , Age Factors , Alanine Transaminase/blood , Aspartate Aminotransferases/blood , Biomarkers/blood , Biopsy , Blood Glucose/metabolism , Child , Diabetes Mellitus, Type 2/epidemiology , Disease Progression , Female , Humans , Male , Non-alcoholic Fatty Liver Disease/diagnosis , Non-alcoholic Fatty Liver Disease/epidemiology , Pediatric Obesity/epidemiology , Prospective Studies , Randomized Controlled Trials as Topic , Risk Assessment , Risk Factors , Severity of Illness Index , Time Factors , Treatment Outcome
6.
J Viral Hepat ; 28(4): 672-681, 2021 04.
Article in English | MEDLINE | ID: mdl-33306246

ABSTRACT

Hepatitis E is considered rare in the United States (US) despite its widespread occurrence in Asian and African countries. The objective of this study was to describe the characteristics of hepatitis E-related pregnancies and acute-on-chronic liver failure and analyse trends for hepatitis E diagnosis among hospitalized patients in the US. We examined data from the 2010-2017 National Inpatient Sample from Healthcare Cost and Utilization Project to determine mortality, morbidity, pregnancy diagnoses, chronic liver disease diagnoses, and other conditions during hospitalization. Data were extracted for hospitalizations with hepatitis E as defined by ICD-9 codes 070.43 and 070.53 and ICD-10 code B17.2. Of 208,462,242 hospitalizations from 2010-2015, we identified 960 hepatitis E hospitalizations. The hospitalization rate of hepatitis E was 3.7 per 10 million in 2010 and 6.4 per 10 million in 2015 (ß = 0.60, p = 0.011). From 2015 to 2017, the hospitalization appeared to increase with slope (ß) of 0.50. Among those hospitalizations, 34 (4%) died and 85 (9%) had acute-on-chronic liver failure. Ninety-five (10%) had a diagnosis of pregnancy, there were no reports of maternal or foetus/neonate deaths, but there was a high proportion of adverse events for both during hospitalization. Having a chronic liver disease was associated with hepatic coma diagnosis (OR = 10.94, p = 0.002). Although the hospitalization rate of hepatitis E in the US is low, it appears to be increasing over time. Further studies are necessary in order to conclude a causal association of hepatitis E with adverse events and mortalities in pregnancy and chronic liver disease in the US.


Subject(s)
Hepatic Encephalopathy , Hepatitis E , Female , Health Care Costs , Hepatitis E/epidemiology , Hospitalization , Humans , Infant, Newborn , Inpatients , Pregnancy , United States/epidemiology
7.
J Pediatr Gastroenterol Nutr ; 73(1): 86-92, 2021 07 01.
Article in English | MEDLINE | ID: mdl-33633084

ABSTRACT

OBJECTIVES: Ascites is a pathologic buildup of fluid in the peritoneal cavity. Knowledge is lacking in clinical outcome in pediatric patients with ascites. We aim to identify and assess clinical variables, associated with morbidity and mortality in pediatric patients who are hospitalized with ascites. METHODS: A retrospective cohort study was performed on patients ages 0 to 21 hospitalized at Johns Hopkins Hospital between 1983 and 2010 with an ICD-9 discharge diagnosis of ascites (789.5, 789.51, 789.59). A total of 518 pediatric patients were studied, all with a diagnosis of ascites during hospitalization. Study outcomes included hospital length of stay (LOS) as a proxy for morbidity and death at hospital discharge for mortality. Variables analyzed included demographic data, ascites etiology and grade, comorbidities, and laboratory markers. Variables were analyzed by log-linear regression and competing risk model. RESULTS: Among the 3 age groups (0-5, 6-12, and 13-21), the 0 to 5 age group experienced significantly increased LOS (P < 0.001) and mortality (P = 0.027). Ascites etiology of veno-occlusive disease (VOD) and the presence of hydrothorax or thrombocytopenia was also significantly associated with increased LOS. Ascites with the etiology of congestive hepatopathy and the presence of grade 3 ascites, hepatic encephalopathy, hepatorenal syndrome, hydrothorax, hyponatremia, and thrombocytopenia were associated with increased mortality. Additionally, black pediatric patients have an increased risk of mortality (P = 0.027). Other factors including sex, leukopenia, portal vein thrombosis, and splenomegaly were not associated with LOS or mortality. CONCLUSIONS: Morbidity and mortality in pediatric patients hospitalized with ascites are associated with specific demographic and clinical factors. Further studies are required to apply this knowledge to predict the clinical outcomes.


Subject(s)
Ascites , Hospitalization , Adolescent , Adult , Ascites/epidemiology , Ascites/etiology , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Length of Stay , Morbidity , Retrospective Studies , Young Adult
8.
BMC Gastroenterol ; 20(1): 331, 2020 Oct 09.
Article in English | MEDLINE | ID: mdl-33036568

ABSTRACT

BACKGROUND: Disaccharides such as lactose and sucrose are sugars commonly found in human diet. They are broken down by mucosal disaccharidases in the duodenum. Previous small studies found no associations between gastrointestinal (GI) symptoms and combined low disaccharidase activity. We aim to explore the associations of low activity of disaccharidase and combinations of low activity of different disaccharidases with general GI symptom presentations in a large cohort of pediatric patients. METHODS: We examined a cohort (0-21 yrs.) who have undergone esophagogastroduodenoscopy and received disaccharidase activity assay from duodenal biopsy in the time period 2010 to 2012. Disaccharidase assays tested for activity of lactase, sucrase, maltase, and palatinase. GI symptoms were grouped into four categories, abdominal pain, diarrhea, weight loss, and gastroesophageal reflux. RESULTS: Of the 347 subjects, we found an association between low lactase activity and abdominal pain (OR = 1.78; 95% CI = 1.07-2.97; p < 0.05). Subjects with a lactase/sucrase ratio < 0.2 were found to be associated with abdominal pain (OR = 2.25; 95% CI = 1.25-4.04; p < 0.05), Subjects with low pandisaccharidase may be correlated with abdominal pain and have a unique frequency of GI symptoms due to low frequency of diarrhea and weight loss, but they were not statistically significant. CONCLUSIONS: Low activities of certain disaccharidase combinations may be associated with GI symptoms in subjects; a prospective study may be needed to investigate further.


Subject(s)
Disaccharidases , Lactase , Child , Duodenum , Humans , Prospective Studies , Retrospective Studies
9.
J Pediatr Gastroenterol Nutr ; 71(2): e68-e71, 2020 08.
Article in English | MEDLINE | ID: mdl-32732789

ABSTRACT

The North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) developed NASPGHAN Nutrition University (N2U) in 2012 to improve nutrition education for pediatric gastroenterology providers. A total of 543 providers (physicians, registered dietitians, and advanced practice nurses) have applied to N2U and 285 have attended this 2-day course. We used survey methodology to compare attendees to applicants who did not attend. Course attendees reported more confidence than nonattendees in the nutritional management of patients with short bowel syndrome, feeding disorders, and gastrointestinal allergies, even though they were seen at similar frequency in both groups. Eighty-eight percent of attendees disseminated the information they learned at N2U through venues such as grand rounds or guideline/policy development. These results demonstrate the benefit of N2U in enhancing nutrition education for pediatric gastroenterology practitioners.


Subject(s)
Gastroenterology , Child , Gastroenterology/education , Health Education , Humans , Nutritional Status , Societies, Medical , Surveys and Questionnaires , United States , Universities
10.
J Pediatr Gastroenterol Nutr ; 67(1): 59-63, 2018 07.
Article in English | MEDLINE | ID: mdl-29470292

ABSTRACT

Prader-Willi syndrome (PWS) is a genetic syndrome in which individuals have multisystem medical challenges. Gastroenterological difficulties in the syndrome include decreased vomiting, constipation, delayed gastric emptying, delayed colonic transit, dysphagia, increased choking, and increased risk of gastric dilation and rupture. In addition, self-injurious behavior such as rectal picking may be present and severe enough to lead to rectal ulceration and bleeding. Many patients have extensive gastroenterological workup and treatment before their ultimate diagnosis of severe rectal picking. We describe 4 new cases of rectal picking in individuals with PWS leading to rectal bleeding and ulceration as well as a review of the literature of prior cases of severe rectal picking in PWS and potential treatment options. It is important to recognize these cases early in order to prevent unnecessary treatments and implement appropriate behavioral interventions.


Subject(s)
Prader-Willi Syndrome/psychology , Rectum/injuries , Self-Injurious Behavior/diagnosis , Adolescent , Child , Diagnosis, Differential , Female , Humans , Inflammatory Bowel Diseases/diagnosis , Prader-Willi Syndrome/complications , Self-Injurious Behavior/complications , Self-Injurious Behavior/therapy
11.
Diabetes Obes Metab ; 19(12): 1751-1761, 2017 12.
Article in English | MEDLINE | ID: mdl-28556449

ABSTRACT

AIMS: There are no treatments for the extreme hyperphagia and obesity in Prader-Willi syndrome (PWS). The bestPWS clinical trial assessed the efficacy, safety and tolerability of the methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib. MATERIALS AND METHODS: Participants with PWS (12-65 years old) were randomly assigned (1:1:1) to biweekly placebo, 1.8 mg beloranib or 2.4 mg beloranib injection for 26 weeks at 15 US sites. Co-primary endpoints were the changes in hyperphagia [measured by Hyperphagia Questionnaire for Clinical Trials (HQ-CT); possible score 0-36] and weight by intention-to-treat. ClinicalTrials.gov registration: NCT02179151. RESULTS: One-hundred and seven participants were included in the intention-to-treat analysis: placebo (n = 34); 1.8 mg beloranib (n = 36); or 2.4 mg beloranib (n = 37). Improvement (reduction) in HQ-CT total score was greater in the 1.8 mg (mean difference -6.3, 95% CI -9.6 to -3.0; P = .0003) and 2.4 mg beloranib groups (-7.0, 95% CI -10.5 to -3.6; P = .0001) vs placebo. Compared with placebo, weight change was greater with 1.8 mg (mean difference - 8.2%, 95% CI -10.8 to -5.6; P < .0001) and 2.4 mg beloranib (-9.5%, 95% CI -12.1 to -6.8; P < .0001). Injection site bruising was the most frequent adverse event with beloranib. Dosing was stopped early due to an imbalance in venous thrombotic events in beloranib-treated participants (2 fatal events of pulmonary embolism and 2 events of deep vein thrombosis) compared with placebo. CONCLUSIONS: MetAP2 inhibition with beloranib produced statistically significant and clinically meaningful improvements in hyperphagia-related behaviours and weight loss in participants with PWS. Although investigation of beloranib has ceased, inhibition of MetAP2 is a novel mechanism for treating hyperphagia and obesity.


Subject(s)
Aminopeptidases/antagonists & inhibitors , Appetite Depressants/therapeutic use , Cinnamates/therapeutic use , Cyclohexanes/therapeutic use , Epoxy Compounds/therapeutic use , Glycoproteins/antagonists & inhibitors , Hyperphagia/prevention & control , Obesity/prevention & control , Prader-Willi Syndrome/drug therapy , Protease Inhibitors/therapeutic use , Sesquiterpenes/therapeutic use , Adolescent , Adult , Aminopeptidases/metabolism , Appetite Depressants/administration & dosage , Appetite Depressants/adverse effects , Body Mass Index , Cinnamates/administration & dosage , Cinnamates/adverse effects , Cyclohexanes/administration & dosage , Cyclohexanes/adverse effects , Dose-Response Relationship, Drug , Double-Blind Method , Early Termination of Clinical Trials , Epoxy Compounds/administration & dosage , Epoxy Compounds/adverse effects , Female , Glycoproteins/metabolism , Humans , Hyperphagia/etiology , Hyperphagia/physiopathology , Intention to Treat Analysis , Male , Methionyl Aminopeptidases , Obesity/etiology , Prader-Willi Syndrome/physiopathology , Protease Inhibitors/administration & dosage , Protease Inhibitors/adverse effects , Sesquiterpenes/administration & dosage , Sesquiterpenes/adverse effects , Severity of Illness Index , Venous Thrombosis/chemically induced , Venous Thrombosis/physiopathology , Weight Loss/drug effects , Young Adult
12.
J Pediatr Gastroenterol Nutr ; 64(1): 83-88, 2017 01.
Article in English | MEDLINE | ID: mdl-27050055

ABSTRACT

OBJECTIVES: The aim of our study was to describe the changing prevalence, demographic features, etiologies, and treatment of ascites in children hospitalized during a 27-year period at the Johns Hopkins Hospital (Baltimore, MD). METHODS: We retrospectively reviewed discharges from 1983 to 2010 to select patients whose records included a diagnosis of ascites. We assessed the etiologies and degrees of ascites (ascites grade 1 detectable only by radiologic tests; ascites grades 2 and 3 recognized by moderate and marked abdominal distension by physical examinations). RESULTS: We classified 518 children into 9 etiology groups: intrahepatic disease (IH) (105), hepatic vein outflow obstruction (HVOO) (45), congestive heart disease (CH) (33), nephrotic syndrome (NS) (36), pancreatitis (26), inflammatory and infectious diseases (77), malignancy (49), idiopathic (71), and miscellaneous (76). IH and CH were predominant in the younger age group (0-5 years) versus HVOO, pancreatitis, and malignancy in the older age group (13-21 years) (P < 0.001). The prevalence of ascites increased over time from 1983 to 2006 and declined thereafter. Ascites grade 1 was more common than ascites grades 2 and 3 in all the groups (P = 0.048). IH and NS were more likely to have ascites grade 2 and 3 (P = 0.02). Although spironolactone was more frequently used in the IH group versus other etiologies, furosemide was used more frequently in NS and CH versus other etiologies (P < 0.001). CONCLUSIONS: The increased prevalence of ascites during the initial study period could reflect improved detection radiologic detection. The proportion of severe ascites and the various medical treatments differed among the etiologic groups.


Subject(s)
Ascites/etiology , Heart Failure/complications , Infections/complications , Liver Diseases/complications , Neoplasms/complications , Nephrotic Syndrome/complications , Pancreatitis/complications , Adolescent , Adult , Ascites/diagnosis , Ascites/epidemiology , Ascites/therapy , Budd-Chiari Syndrome/complications , Child , Child, Preschool , Female , Hospitals , Humans , Infant , Infant, Newborn , Male , Maryland/epidemiology , Physical Examination , Prevalence , Radiography/methods , Retrospective Studies , Young Adult
13.
J Pediatr Gastroenterol Nutr ; 60(3): 396-404, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25710716

ABSTRACT

OBJECTIVES: In adults, vitamin D deficiency is common in patients with nonalcoholic fatty liver disease (NAFLD) and has been associated with the severity of histology. There are known differences between adult and pediatric NAFLD, with little data regarding the relation between vitamin D and pediatric NAFLD. The aim of the present study was to examine the relation between vitamin D levels and NAFLD in children. METHODS: Clinical and histological data were used from children ages 2 to 18 years with biopsy-proven NAFLD enrolled in the Nonalcoholic Steatohepatitis Clinical Research Network studies. 25(OH) vitamin D levels were measured from serum. Data examined included demographics, anthropometrics, laboratory markers, and liver histology. Data were analyzed using 3 categories of vitamin D level: deficient (≤ 20 ng/mL), insufficient (21-29 ng/mL), and sufficient (≥ 30 ng/mL). RESULTS: A total of 102 children were studied. There was a high prevalence (80/102, 78%) of vitamin D deficiency or insufficiency; however, there were no significant associations between vitamin D level and the histological characteristics or severity of NAFLD. Significantly higher levels of triglycerides were found in those with vitamin D deficiency (P = 0.004), but there was no association with other features of the metabolic syndrome. CONCLUSIONS: There is a high prevalence of vitamin D deficiency and insufficiency in children with biopsy-proven NAFLD; however, no association was found between vitamin D deficiency and the severity of disease on biopsies. This differs from adult NAFLD studies in which vitamin D deficiency correlates with histological severity, suggesting differences in the risk factors for or consequences of pediatric NAFLD.


Subject(s)
Adolescent Nutritional Physiological Phenomena , Child Nutritional Physiological Phenomena , Non-alcoholic Fatty Liver Disease/complications , Nutritional Status , Vitamin D Deficiency/complications , 25-Hydroxyvitamin D 2/blood , Adolescent , Biomarkers/blood , Biopsy , Calcifediol/blood , Child , Child, Preschool , Cross-Sectional Studies , Humans , Hypertriglyceridemia/complications , Liver/pathology , Liver Cirrhosis/etiology , Liver Cirrhosis/immunology , Non-alcoholic Fatty Liver Disease/epidemiology , Non-alcoholic Fatty Liver Disease/immunology , Non-alcoholic Fatty Liver Disease/pathology , Prevalence , Severity of Illness Index , United States/epidemiology , Vitamin D Deficiency/blood , Vitamin D Deficiency/epidemiology
14.
Ann Nutr Metab ; 67(2): 119-32, 2015.
Article in English | MEDLINE | ID: mdl-26360877

ABSTRACT

BACKGROUND: There are no internationally agreed recommendations on compositional requirements of follow-up formula for young children (FUF-YC) aged 1-3 years. AIM: The aim of the study is to propose international compositional recommendations for FUF-YC. METHODS: Compositional recommendations for FUF-YC were devised by expert consensus based on a detailed literature review of nutrient intakes and unmet needs in children aged 12-36 months. RESULTS AND CONCLUSIONS: Problematic nutrients with often inadequate intakes are the vitamins A, D, B12, C and folate, calcium, iron, iodine and zinc. If used, FUF-YC should be fed along with an age-appropriate mixed diet, usually contributing 1-2 cups (200-400 ml) of FUF-YC daily (approximately 15% of total energy intake). Protein from cow's milk-based formula should provide 1.6-2.7 g/100 kcal. Fat content should be 4.4-6.0 g/100 kcal. Carbohydrate should contribute 9-14 g/100 kcal with >50% from lactose. If other sugars are added, they should not exceed 10% of total carbohydrates. Calcium should provide 200 mg/100 kcal. Other micronutrient contents/100 kcal should reach 15% of the World Health Organization/Food and Agriculture Organization recommended nutrient intake values. A guidance upper level that was 3-5 times of the minimum level was established. Countries may adapt compositional requirements, considering recommended nutrient intakes, habitual diets, nutritional status and existence of micronutrient programs to ensure adequacy while preventing excessive intakes.


Subject(s)
Infant Formula/chemistry , Infant Formula/standards , Infant Nutritional Physiological Phenomena/standards , Academies and Institutes , Child, Preschool , Dietary Carbohydrates/analysis , Dietary Fats/analysis , Energy Intake , Follow-Up Studies , Humans , Infant , Lactose/administration & dosage , Lactose/analysis , Micronutrients/analysis , Micronutrients/deficiency , Milk Proteins/administration & dosage , Milk Proteins/analysis , Nutritional Status , Randomized Controlled Trials as Topic , Recommended Dietary Allowances/legislation & jurisprudence , Thailand
15.
J Pediatr ; 164(4): 707-713.e3, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24360992

ABSTRACT

OBJECTIVE: To investigate the histological spectrum of nonalcoholic fatty liver disease (NAFLD) in children with normal, mildly elevated (26-50 U/L boys, 23-44 U/L girls), or elevated (>50 U/L in boys, >44 U/L in girls) serum alanine aminotransferase (ALT) levels. STUDY DESIGN: The Nonalcoholic Steatohepatitis Clinical Research Network enrolls children aged 5-18 years with NAFLD. We analyzed baseline clinical and histological data from 91 children with suspected NAFLD and normal or mildly elevated ALT and liver biopsy analysis within 180 days of ALT measurement, and compared them with data from 392 children with elevated ALT. RESULTS: Seventeen of the 91 children with suspected NAFLD (19%) had a normal ALT level, and 74 (81%) had a mildly elevated ALT level. Overall, 45% of the biopsy specimens analyzed had steatosis ≥33%, 22% had grade ≥2 lobular inflammation, 81% had portal inflammation, 29% had ballooned hepatocytes, 35% had "suspicious/borderline" steatohepatitis, 8% had definite nonalcoholic steatohepatitis, 34% had an NAFLD activity score ≥4, and 46% had fibrosis (38% mild/moderate and 8% bridging/cirrhosis). Marked steatosis (50% vs 24%) and fibrosis (54% vs 12%) were significantly more common in the patients with mildly elevated ALT compared with those with normal ALT, with no difference in ballooning, inflammation, or NAFLD activity score ≥4 between the 2 groups. Fibrosis stage 3/4 was seen in none of the children with normal ALT, in 9% of those with mildly elevated ALT, and in 15% of those with elevated ALT. CONCLUSION: Liver biopsy specimens from children with NAFLD with normal or mildly elevated ALT levels show significant histological abnormalities, including advanced fibrosis in children with mildly elevated ALT. Thus, measurement of ALT may underestimate liver injury in NAFLD. The use of appropriate ALT cutoff levels can help identify children at risk for more severe disease.


Subject(s)
Alanine Transaminase/blood , Fatty Liver/blood , Fatty Liver/pathology , Child , Female , Humans , Male , Non-alcoholic Fatty Liver Disease , Prospective Studies , Reference Values
16.
J Pediatr Gastroenterol Nutr ; 58(4): 469-71, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24253364

ABSTRACT

The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Nutrition Committee developed the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Nutrition University (N2U) as an education resource designed to address the nutrition topics identified by pediatric gastroenterologists. N2U was initially designed as a series of lectures. Participants completed a precourse, immediate postcourse, and 6-month postcourse assessment. The average pretest score was 74%. Participants reported learning "a great deal" and immediate postcourse test score average was 90%. Feedback from N2U participants will shape future course design, focusing on the interactive learning sessions. N2U may serve as a model for offering topic-directed continuing medical education based on targeted physician responses and feedback.


Subject(s)
Education, Medical, Continuing , Gastroenterology/education , Nutritional Sciences/education , Nutritional Support , Pediatrics/education , Program Evaluation , Attitude of Health Personnel , Cystic Fibrosis/therapy , Energy Metabolism , Humans , Nutrition Assessment , Short Bowel Syndrome/therapy
17.
Diagnostics (Basel) ; 14(15)2024 Jul 31.
Article in English | MEDLINE | ID: mdl-39125528

ABSTRACT

Pediatric MASLD (previously referred to as NAFLD) incidence has continued to rise along with the obesity pandemic. Pediatric MASLD increases the risk of liver fibrosis and cirrhosis in adulthood. Early detection and intervention can prevent and reduce complications. Liver biopsy remains the gold standard for diagnosis, although imaging modalities are increasingly being used. We performed a retrospective study of 202 children seen in a pediatric gastroenterology clinic with a complaint of abdominal pain, elevated liver enzymes or MASLD, or a combination of the three to evaluate screening methods for MASLD. A total of 134 of the 202 patients included in the study underwent laboratory testing and abdominal ultrasound. Ultrasound images were reviewed with attention to liver size and echotexture by a fellowship-trained pediatric radiologist for liver size and echotexture. Overall, 76.2% of the initial radiology reports correctly identified hepatomegaly based on age and 75.4% of the initial radiology reports correctly described hepatic echogenicity that was consistent with increased hepatic fat deposition. Use of screening ultrasound in concert with other clinical evaluations can be helpful to identify children at risk of MASLD. Utilizing ranges for liver span according to age can help to diagnose hepatomegaly, and understanding how to identify hepatic echogenicity is important for identifying possible hepatic steatosis.

18.
J Pediatr Gastroenterol Nutr ; 56(2): 137-44, 2013 Feb.
Article in English | MEDLINE | ID: mdl-22699840

ABSTRACT

BACKGROUND AND AIM: Pediatric gastroenterology is the only pediatric subspecialty with nutrition as part of its official curriculum and objective; however, pediatric gastroenterology fellows believe that their baseline knowledge in nutrition is suboptimal. The purpose of the present study was to assess the perceived effectiveness of nutrition training among pediatric gastroenterologists, identify areas of need for additional education, and determine the perceived role of the gastroenterologist in obesity management. METHODS: A survey was sent to members and fellows of the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition to assess general nutrition education as well as obesity management and educational needs. RESULTS: A total of 272 responses were received, for an overall response rate of 15.2% (272/1784). Most responders reported having average or above-average knowledge base in all nutritional topics. There was strong interest in additional resources and a continuing medical education (CME) module on several nutrition topics including nutritional requirements in specific gastrointestinal (GI) disease, failure to thrive/growth failure, and parenteral nutrition support, with the format of CME dependent on the topic. There was also a strong interest in additional CME on the management of pediatric obesity (67%), as most responders believed that the management of obesity in children requires subspecialty care. The perceived role of the pediatric gastroenterologist was, however, one of support to treat the GI and hepatic comorbidities of obesity rather than serve as the main provider of comprehensive obesity care. CONCLUSIONS: Pediatric gastroenterologists identified gaps in their nutrition knowledge base that may be attributed to the present nutrition education training during fellowship. Multiple topics were identified for additional nutrition education, including obesity management. The nutrition management challenges of today necessitate improved baseline nutrition knowledge and this focus on nutrition should begin at the fellowship level.


Subject(s)
Attitude of Health Personnel , Clinical Competence , Education, Medical, Continuing , Gastroenterology/education , Nutritional Sciences/education , Pediatrics/education , Professional Role , Curriculum , Data Collection , Humans , North America , Obesity/complications , Obesity/therapy , Practice Patterns, Physicians' , Societies, Medical
19.
J Pediatr Gastroenterol Nutr ; 56(1): 99-109, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23282941

ABSTRACT

Obesity in childhood is one of the major health issues in pediatric health care today. As expected, the prevalence of obesity-related comorbidities has risen in parallel with that of obesity. Consultation regarding these concomitant diseases and subsequent management by subspecialists, including pediatric gastroenterologists, is now common and has resulted in obesity being recognized as a chronic disease requiring coordination of care. Although medications and even surgery may provide effective, though often temporary, treatments for obesity and its comorbidities, behavioral interventions addressing healthy dietary and physical activity habits remain a mainstay in the obesity treatment paradigm. Therefore, the issue of weight management must be addressed by both general practitioner and subspecialist alike. In this report, we review select aspects of pediatric obesity and obesity-related management issues because it relates in particular to the field of pediatric gastroenterology and hepatology.


Subject(s)
Obesity/prevention & control , Pediatrics/methods , Chronic Disease , Comorbidity , Diet , Exercise , Health Behavior , Humans , Life Style , Obesity/therapy
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