Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Meconium ileus, intestinal obstruction in the newborn, is caused in most cases by CFTR mutations modulated by yet-unidentified modifier genes. We now show that in two unrelated consanguineous Bedouin kindreds, an autosomal-recessive phenotype of meconium ileus that is not associated with cystic fibrosis (CF) is caused by different homozygous mutations in GUCY2C, leading to a dramatic reduction or fully abrogating the enzymatic activity of the encoded guanlyl cyclase 2C. GUCY2C is a transmembrane receptor whose extracellular domain is activated by either the endogenous ligands, guanylin and related peptide uroguanylin, or by an external ligand, Escherichia coli (E. coli) heat-stable enterotoxin STa. GUCY2C is expressed in the human intestine, and the encoded protein activates the CFTR protein through local generation of cGMP. Thus, GUCY2C is a likely candidate modifier of the meconium ileus phenotype in CF. Because GUCY2C heterozygous and homozygous mutant mice are resistant to E. coli STa enterotoxin-induced diarrhea, it is plausible that GUCY2C mutations in the desert-dwelling Bedouin kindred are of selective advantage.

Post-Bariatric Surgery Care in Israeli Adolescents: A Qualitative Study.

Undergoing bariatric surgery is a life-changing experience for adolescents. However, little is known about post-bariatric surgery management among Israeli adolescents. We aimed to identify the post-operative needs and support from a qualitative aspect. Seventeen adolescents who underwent bariatric surgery were interviewed by semi-structure telephone interview. The interview guide was validated by 10 content experts from different hospitals across the country. Data were collected in 2018. Analysis of the interviews revealed three major themes: "multi-disciplinary team management," "patient satisfaction," and "follow-up." The "multi-disciplinary team management" theme was further divided into three major categories: "pain management," "physiotherapy," and "nutrition." "Patient satisfaction" was further divided into "guidance" and "team handling" categories. The "follow-up" theme included recommendations for improvement. The analysis provides novel information about adolescents' needs after bariatric surgery. Healthcare professionals' awareness of the adolescents' perspective could contribute to providing optimal post-operative care to this population.

Congenital diaphragmatic hernia: short-term outcome.

BACKGROUND: Despite progress in medical and surgical care the mortality rate of congenital diaphragmatic hernia remains high. Assessment of short-term outcome is important for comparison between different medical centers. OBJECTIVES: To evaluate the short-term outcome of infants born with symptomatic CDH and to correlate demographic and clinical parameters with short-term outcome. METHODS: We performed a retrospective cohort study in which demographic, obstetric and perinatal characteristics were extracted from infants' files. For comparison of categorical variables chi-square test and Fisher's exact test were used and for comparison of continuous variables with categorical variables the Mann-Whitney test was used. Sensitivity and specificity were estimated by receiver operator curve. RESULTS: The study group comprised 54 infants with CDH, of whom 20 (37%) survived the neonatal period. Demographic characteristics were not associated with survival. Regarding antenatal characteristics, absence of polyhydramnion and postnatal diagnosis were correlated with better survival. Apgar scores (above 5 at 1 minute and 7 at 5 minutes), first arterial pH after delivery (above 7.135) and presence of pulmonary hypertension were significantly correlated with survival. Also, infants surviving up to 6 days were 10.71 times more likely to survive the neonatal period. CONCLUSIONS: The survival rate of symptomatic newborns with CDH at our center was 37% for the period 1988-2006. Prenatal diagnosis, Apgar score at 5 minutes and first pH after delivery were found to be the most significant predictors of survival. Prospective work is needed to evaluate the long-term outcome of infants with CDH.

[Minimally invasive surgery approach for diaphragmatic morgagni hernia in children].

BACKGROUND: Morgagni hernia is the rarest form of diaphragmatic hernia and accounts for less than 6% of all surgically treated congenital diaphragmatic hernias. In recent years, laparoscopic repair is considered to be a suitable and safe procedure for the treatment of Morgagni hernia. MATERIAL AND METHODS: During the last 8 years, 7 patients with Morgagni hernia underwent laparoscopic hernia repair. All patients were male and the age range was between 2.5 to 10 years. All patients were asymptomatic and the hernia was incidentally diagnosed on a routine chest X-ray conducted for unrelated cause. RESULTS: All patients successfully underwent laparoscopic repair of Morgagni hernia. The postoperative course was uneventful in all patients. The children were discharged between 2 to 4 days following surgery. Long term follow-up was uneventful with no recurrency. CONCLUSION: On the basis of our experience as well as others, we consider laparoscopic repair as the procedure of choice for the surgical treatment of Morgagni hernia.