No abstract

Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by SPINT2 mutations. While we recently described four cases of the non-syndromic form of CSD that were caused by dominant activating mutations in intestinal receptor guanylate cyclase C (GC-C), the genetic cause for the majority of CSD is still unknown. Therefore, we aimed to determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated families applying whole-exome sequencing and/or chromosomal microarray analyses and/or direct Sanger sequencing. SLC9A3 missense, splicing and truncation mutations, including an instance of uniparental disomy, and whole-gene deletion were identified in nine patients from eight families with CSD. Two of these nine patients developed inflammatory bowel disease (IBD) at 4 and 16 years of age. SLC9A3 encodes Na(+)/H(+) antiporter 3 (NHE3), which is the major intestinal brush-border Na(+)/H(+) exchanger. All mutations were in the NHE3 N-terminal transport domain, and all missense mutations were in the putative membrane-spanning domains. Identified SLC9A3 missense mutations were functionally characterized in plasma membrane NHE null fibroblasts. SLC9A3 missense mutations compromised NHE3 activity by reducing basal surface expression and/or loss of basal transport function of NHE3 molecules, whereas acute regulation was normal. This study identifies recessive mutations in NHE3, a downstream target of GC-C, as a cause of CSD and implies primary basal NHE3 malfunction as a predisposition for IBD in a subset of patients.

Many children underestimated their degree of overweight. Their parents and even their attending physicians shared this misperception. This study demonstrates the need to further educate physicians to recognize obesity and overweight so that they can counsel children and their families.

Background Identifying children at malnutrition risk on admission to hospital is considered best practice; however, nutrition screening in pediatric populations is not common. The aim of this study was to determine which screening tool is able to identify children with malnutrition on admission to hospital. Methods A nurse administered 2 pediatric nutrition screening tools, Screening Tool for Risk on Nutritional Status and Growth (STRONGkids) and Pediatric Nutrition Screening Tool (PNST) to patients admitted to medicine and surgery units (n = 165). The Subjective Global Nutritional Assessment (SGNA) was then completed by a dietitian, blinded to the results of the screens. Sensitivity, specificity, and κ were calculated for both screening tools against the SGNA. A receiver operating characteristic (ROC) curve assessed alternate cutoffs for each tool. Length of hospital stay (LOS) was used to assess prospective validity. Results Using the recommended cutoffs, the sensitivity of STRONGkids was 89%, specificity 35%, and κ 0.483. The sensitivity of PNST was 58%, specificity 88%, and κ 0.601. Using adjusted cutoffs, PNST's sensitivity improved to 87%, specificity 71%, and κ 0.681, and STRONGkids specificity improved to 61%, sensitivity 80%, and κ 0.5. Children identified at nutrition risk had significantly longer LOS (P < 0.05). Conclusion This study showed neither tool was appropriate for clinical use based on published cutoffs. By adjusting the cutoffs using ROC curve analysis, both tools improved overall agreement with the SGNA without significantly impacting the prospective validity. PNST with adjusted cutoffs is the most appropriate for clinical use in this population.

No abstract

Children with CD had high intakes of fibre, GI, and GL and lower intakes of folate. This has implications for dietary counselling in this population.

Child-parent perceptions of HRQOL in a multiethnic population with CD are comparable to healthy reference populations, but significantly higher than in parent/child GI-CON. Adherence to the GFD in ethnically diverse youth with CD was related to GI symptoms, age of the child, and ethnicity of the parent-child.

Hematoxylin and eosin with or without acetylcholinesterase remains the criterion standard according to our PRISMA-based data. In our opinion, the number of false-positive results with potential overtreatment may limit the increasing advocacy for calretinin staining. Both the "primum non nocere" dictum and the "loss aversion heuristic" need to be satisfied harmoniously by preventing harm from unnecessary surgery.