Novel Mutation in the SLC5A1 Gene Causing Glucose-Galactose Malabsorption: First Confirmed Case From Central America.

Congenital glucose-galactose malabsorption is a rare cause of life-threatening diet-induced diarrhea in infants. Mutations in the SLC5A1 gene, which encodes for the sodium-dependent glucose transporter, result in large-volume diarrhea due to aberrant glucose and galactose transport across the intestinal brush border. The diagnosis can be made clinically based on the presence of diarrhea soon after birth, evidence of carbohydrate malabsorption in the stool, and resolution of diarrhea with dietary elimination of glucose and galactose. Genetic testing can confirm the diagnosis. Here we report the first confirmed case of glucose-galactose malabsorption in an infant from Central America due to a novel mutation in the SLC5A1 gene. The patient began growing and thriving after being diagnosed and with the correct dietary interventions.

Physician and Parent Perceptions on Plant-Based Beverages as Substitutes for Cow's Milk: A Single City Survey.

This study assessed physician and parent perceptions regarding plant-based beverage consumption in children. We surveyed 128 physicians and 215 parents of patients at University of Miami and Jackson Memorial Hospital. Among physicians, 52% recommended plant-based beverages, typically soy (33%), for cow's milk allergy (32%). Only 40% of physicians knew the typical protein content of plant-based beverages compared to cow's milk. Most physicians (54%) did not discuss potential health risks of plant-based beverages with patients. Among parents, 48% had children <2 years old, and 22% purchased a plant-based beverage, most commonly almond beverage (39%), due to perceived health benefits (54%). In total, 85% of parents believed that plant-based beverages are nutritionally superior or equivalent to cow's milk. Most parents (52%) depended on physicians for information on plant-based beverages. Overall, less than one third of physicians and parents believed that plant-based beverages should be called milk. There is a lack of knowledge among physicians and parents regarding plant-based beverage use as a dairy substitute in children. Despite parents relying on physicians for health information, physicians are not routinely counseling parents. Removing the label "milk" from plant-based beverages may improve consumer awareness of their nutritional differences and circumvent potential associated health risks in children.

Assessment of Liver Fibrosis by Transient Elastography in Children and Young Adults With Sickle Cell Disease With and Without Iron Overload.

Transfusion-associated iron overload may cause liver fibrosis. We compared transient elastography (TE) and aspartate aminotransferase-platelet ratio index (APRI), noninvasive markers for hepatic fibrosis, to liver histology in children and young adults with sickle cell disease (SCD) who were iron overloaded (cohort 1). Age-matched subjects with SCD but without iron overload (cohort 2) were enrolled for APRI and TE assessments. Nineteen subjects ages 10 to 21 years were transfused for a mean of 9.67 years, had a mean serum ferritin of 4899±2849 ng/mL, and a liver iron concentration of 15.56±10.12 mg/g dry liver weight by R2-magnetic resonance imaging. Mean APRI was 0.33±0.13 in cohort 1 and 0.27±0.10 in cohort 2. The mean liver stiffness measures (LSM) in cohort 1, assessed by TE, was 8.46±3.95 kPa, ranging from 3.5 to 14.6 kPa (expected normal <7 kPa). Cohort 2 had a mean LSM of 5.72±1.74 kPa (4.6 to 8.7 kPa). There was a good correlation between LSM and histologic fibrosis (t value 6.94, P<0.0001). There was no significant correlation between APRI and histologic fibrosis and between APRI and LSM. A high LSM suggests liver fibrosis in children and adults with SCD with iron overload and may merit histologic confirmation especially if persistent.

Endoscopic Evaluation for Stricture Formation Post Button Battery Ingestion.

Every year, there are over 3300 ingestions of button batteries, mostly by young children. Initial presentation of button battery ingestion may be nonspecific, with a delay in diagnosis and removal resulting in increased risk of complications. We present the case of a five-year-old female who presented with vomiting following unwitnessed button battery ingestion. The battery was impacted in the middle esophagus for at least six hours. Endoscopy was performed for immediate removal and showed a Grade 2B erosion, warranting nasogastric tube placement. The patient remained asymptomatic following discharge and had a barium swallow that was read as normal. However, a repeat endoscopy one month later visualized stricture formation at the previous battery injury site. This case highlights the importance of both clinician and parent awareness of button battery ingestion and demonstrates that endoscopy provides the most accurate assessment of esophageal injury and complication development, even in asymptomatic patients.

Is Celiac Disease Testing Necessary in Functional Abdominal Disorders? A Study in Predominantly Latino Children.

BACKGROUND: Functional abdominal pain disorders (FAPDs) are among the most common causes of consultation in general pediatrics and pediatric gastroenterology. The Rome IV criteria recommend testing for celiac disease (CD) in children with irritable bowel syndrome-diarrhea (IBS-D) and leaves testing in cases of other FAPDs to the practitioner's discretion. These recommendations were based on a single study that showed a 4-fold increase of CD among patients with IBS in Italy. It is unclear if these findings can be extrapolated to other populations. Understanding whether those results are reproducible in areas with different racial/ethnic backgrounds can optimize patient care. AIM: The aim of the study was to assess the prevalence of CD in a sample of children consulting for FAPDs to a tertiary care center in Miami. METHODS: The charts of all pediatric patients consulting for FAPDs from January 2016 to November 2019 at the University of Miami were reviewed. Demographics, diagnosis, and CD testing for each child were analyzed. RESULTS: One hundred eighty-one children with FAPDs and celiac testing were seen. Mean age of 12.89 years, girls 61.34%. 84 (46.40%) had a diagnosis of IBS and 97 (53.59%) had a diagnosis of other FAPD. One of 181 children with FAPDs (0/84 with IBS and 1/97 with other FAPDs) had positive CD serological testing and EGD confirmation. CONCLUSIONS: Our study suggests that the prevalence of CD among children with FAPDs is similar to the community prevalence. This data questions the benefit of testing all children FAPDS (including IBS) for CD. Studies with larger sample size and various racial/ethnic makeup should be done to confirm our findings.

Food in Chronic Pain: Friend or Foe?

While many still consider food to be innocuous, ongoing research demonstrates food's role, both harmful and protective, in chronic pain [...].

Functional Abdominal Pain and Nutritional Status of Children. A School-Based Study.

Functional abdominal pain disorders (FAPD) are the most common chronic pain conditions in pediatric gastroenterology. They account for 50% of all pediatric gastroenterology clinic visits. The pathophysiology of FAPDs is poorly understood, but there is growing understanding of the role of food and the patient's nutritional state in both their treatment and prognosis. Clinic-based studies have shown a higher prevalence of FAPDs, and worse prognosis among obese children with FAPDs. We aimed to assess the nutritional status of children with FAPD to determine if there is increased prevalence of FAPDs in obese or underweight patients. We conducted a cross sectional study of schoolchildren in Colombia. We enrolled 1030 patients from five schools and screened them for FAPDs using Rome IV criteria. Data on weight, height, abdominal circumference and BMI were collected for each child. Cases (FAPDs) were compared with a control group of enrolled children who did not meet diagnostic criteria for any functional gastrointestinal disorders (FGID). We diagnosed 58 (5.8%) children with FAPDs based on Rome IV criteria. When we compared to participants who were not diagnosed with FGIDs by screening, there was no statistically significant difference in children who were obese (OR 0.34 CI: 0.03-1.34, p = 0.124) or overweight (OR 1.00 CI: 0.46-2.02, p = 0.984) or those with increased abdominal circumference (OR 0.94, CI: 0.10-3.90, p = 0.943). FAPDs are not more common among obese children compared with healthy controls at a community level. Obese children may have been overrepresented in previous studies which were done at a clinical level due to comorbidities and a more severe phenotype that makes them more likely to consult. Nutritional status is not a useful predictor for the occurrence of FAPDs in children in the general population.

Celiac Disease in Children with Functional Constipation: A School-Based Multicity Study.

OBJECTIVE: To determine whether children in the community with functional constipation have increased prevalence of celiac disease. STUDY DESIGN: Between April 4, 2015, and April 25, 2017, we enrolled 1809 children from 5 schools in Colombia and screened them for functional gastrointestinal disorders (FGIDs), including functional constipation, using questionnaires recommended in the Rome III/IV criteria. We matched children with functional constipation with healthy controls without a FGID and tested them for celiac disease with tissue transglutaminase (tTG)-Immunoglobulin A (IgA) and total IgA screening. In those who tested positive for tTG-IgA, we performed HLA genotyping and endoscopy to obtain 4 duodenal biopsy specimens for classification of celiac disease using the Marsh criteria. Analysis of statistical significance between groups of children with and without functional constipation was done using a 2-tailed Fisher exact test. RESULTS: Patients diagnosed with functional constipation (n = 203) were matched with 419 healthy controls without FGIDs. The overall prevalence of celiac disease in the entire cohort was 0.6%. Of those with functional constipation, 1 (0.5%) was diagnosed with celiac disease, and 3 (0.7%) of the control patients without FGIDs had celiac disease (P = .743). CONCLUSIONS: The prevalence of celiac disease in our cohort was similar to worldwide estimates. The prevalence of celiac disease in schoolchildren with functional constipation in Colombia is similar to those without FGIDs. Thus, routine testing of schoolchildren with functional constipation for celiac disease is not indicated.

Prevalence of Bloodstream Infections in Children With Short-Bowel Syndrome With a Central Line Presenting to Emergency Department With Fever.

BACKGROUND: Children with short-bowel syndrome (SBS) have significant morbidity and mortality from bloodstream infections (BSIs). We studied the prevalence of BSI in children with SBS and identified possible predictors of BSI. METHODS: This retrospective cohort study included patients with SBS who presented to Holtz Children's Hospital from April 1, 2009, to June 30, 2014, with fever or reported fever. Data including vital signs, white blood cell (WBC) count, C-reactive protein (CRP) levels, and blood and urine cultures were reviewed. We calculated the prevalence of BSI and its confidence level. We also assessed the odds of BSI with increases in WBC and CRP values. RESULTS: A total of 246 encounters were evaluated. The adjusted calculated prevalence rate for BSI in children with SBS and fever was 55% (95% CI, 42.3%-65.4%). There were 114 gram-negative infections (72.6%), 46 gram-positive infections (29.3%), and 17 fungal infections (10.8%). Using the regression model, each additional 10 units above 20 mg/L CRP increased the odds of BSI by 26%. There was no association between WBC count and the presence of BSI. CONCLUSION: Children with fever and SBS are at high risk for BSI with gram-positive and gram-negative organisms as well as fungus. WBC count at presentation is a poor predictor of BSI. Though elevated CRP increased the odds of BSI, its low negative predictive value made it a poor predictor of BSI in these patients. Children with SBS and fever should be treated urgently with broad-spectrum antibiotics.

Diet and Functional Gastrointestinal Disorders in Children. Is the Focus on Food Exaggerated?

Almost all children (93%) who consult for irritable bowel syndrome (IBS) report food intolerances [...].

The Role of Disaccharidase Deficiencies in Functional Abdominal Pain Disorders-A Narrative Review.

Disaccharidase deficiencies are reportedly underdiagnosed in pediatric populations. Though typically thought to cause diarrheal disease, they can also be a cause of abdominal pain and dyspepsia, and patients diagnosed with these functional disorders may actually have associated enzyme deficiencies. While the effects of lactose deficiency have been widely studied, sucrase, maltase, and isomaltase are less frequently considered when approaching a patient with an apparent functional abdominal pain disorder. This review seeks to provide an up-to-date narrative on the current scientific literature on the possible role of sucrase, maltase, and isomaltase deficiency in pediatric functional gastrointestinal disorders.

Herbs and Spices in the Treatment of Functional Gastrointestinal Disorders: A Review of Clinical Trials.

More than fifty percent of all new patient visits to pediatric gastroenterology clinics consult for functional abdominal pain disorders (FAPDs). In 2005, a technical report of the American Academy of Pediatrics and the North American Pediatric Gastroenterology, Hepatology and Nutrition society (NASPGHAN) found limited or inconclusive evidence for most therapeutic interventions for this group of disorders. The report did not include studies on herbs and spices. Since then, there has been an increasing interest in the use of complementary and alternative medicine (CAM) for the treatment of chronic pain disorders in children. About 40% of parents of pediatric gastroenterology patients have utilized CAM. This review evaluated the published literature on the effectiveness of CAM, specifically the use of herbs and spices, for the treatment of FAPDs. We found little evidence for most of the commonly used herbs and spices. Despite its common use, research on the efficacy, safety, and optimal dosage remains limited. There is evidence to suggest the benefit of peppermint oil and STW 5 for the treatment of FAPDs in children. The paucity of data on most therapies underscores the need for large clinical trials to assess their efficacy.