Effectiveness of Disease-Specific Cognitive Behavioral Therapy on Anxiety, Depression, and Quality of Life in Youth With Inflammatory Bowel Disease: A Randomized Controlled Trial.

Objective: To evaluate the effectiveness of a disease-specific cognitive behavioral therapy (CBT) protocol on anxiety and depressive symptoms and health-related quality of life (HRQOL) in adolescents and young adults with inflammatory bowel disease (IBD). Method: A parallel group randomized controlled trial was conducted in 6 centers of (pediatric) gastroenterology. Included were 70 patients and young adults (10-25 years) with IBD and subclinical anxiety and/or depressive symptoms. Patients were randomized into 2 groups, stratified by center: (a) standard medical care (care-as-usual [CAU]) plus disease-specific manualized CBT (Primary and Secondary Control Enhancement Training for Physical Illness; PASCET-PI), with 10 weekly sessions, 3 parent sessions, and 3 booster sessions (n = 37), or (b) CAU only (n = 33). Primary analysis concerned the reliable change in anxiety and depressive symptoms after 3 months (immediate posttreatment assessment). Exploratory analyses concerned (1) the course of anxiety and depressive symptoms and HRQOL in subgroups based on age, and (2) the influence of age, gender, and disease type on the effect of the PASCET-PI. Results: Overall, all participants improved significantly in their anxiety and depressive symptoms and HRQOL, regardless of group, age, gender, and disease type. Primary chi-square tests and exploratory linear mixed models showed no difference in outcomes between the PASCET-PI (n = 35) and the CAU group (n = 33). Conclusions: In youth with IBD and subclinical anxiety and/or depressive symptoms, preliminary results of immediate post-treatment assessment indicated that a disease-specific CBT added to standard medical care did not perform better than standard medical care in improving psychological symptoms or HRQOL. ClinicalTrials.gov: NCT02265588.

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Mutations in FLNA (Filamin A, OMIM 300017) cause X-linked periventricular nodular heterotopia (XL-PNH). XL-PNH-associated mutations are considered lethal in hemizygous males. However, a few males with unusual mutations (including distal truncating and hypomorphic missense mutations), and somatic mosaicism have been reported to survive past infancy. Two brothers had an atypical presentation with failure to thrive and distinct facial appearance including hypertelorism. Evaluations of these brothers and their affected cousin showed systemic involvement including severe intestinal malfunction, malrotation, congenital short bowel, PNH, pyloric stenosis, wandering spleen, patent ductus arteriosus, atrial septal defect, inguinal hernia, and vesicoureteral reflux. The unanticipated finding of PNH led to FLNA testing and subsequent identification of a novel no-stop FLNA mutation (c.7941_7942delCT, p.(*2648Serext*100)). Western blotting and qRT-PCR of patients' fibroblasts showed diminished levels of protein and mRNA. This FLNA mutation, the most distal reported so far, causes in females classical XL-PNH, but in males an unusual, multi-organ phenotype, providing a unique insight into the FLNA-associated phenotypes.

The incidence of negative intraoperative findings after unsuccessful hydrostatic reduction of ileocolic intussusception in children: A retrospective analysis.

BACKGROUND: There is a lack of studies addressing the occurrence of negative intraoperative findings (that is the absence of intussusception) after an unsuccessful hydrostatic reduction of an ileocolic intussusception. The aim of this study is to determine the incidence of negative intraoperative findings after unsuccessful hydrostatic reduction of ileocolic intussusception. METHODS: We conducted a multicentre retrospective study of all children aged 0-18 years treated for ileocolic intussusception from January 1, 2010 to December 31, 2015 in 9 Dutch hospitals. Primary outcome measure was the percentage of children without an intussusception during surgical exploration after unsuccessful hydrostatic reduction. RESULTS: In the study period 436 patients were diagnosed with an ileocolic intussusception. Of these, 408 patients underwent hydrostatic reduction of an ileocolic intussusception. 112 patients (27.5%) underwent surgery after an unsuccessful hydrostatic reduction. In 13 (11.6%) patients no intraoperative evidence of intussusception was found. Patients who underwent surgical intervention after unsuccessful hydrostatic reduction were significantly younger than patients who had a successful hydrostatic reduction; there was no gender difference. CONCLUSION: A substantial number of children (11.6%) underwent a laparotomy after unsuccessful hydrostatic reduction in whom no intussusception was found intraoperatively. We suggest initiating laparoscopy instead of laparotomy when surgery is necessary. LEVEL OF EVIDENCE: Level II.

Effect of Cognitive Behavioral Therapy on Clinical Disease Course in Adolescents and Young Adults With Inflammatory Bowel Disease and Subclinical Anxiety and/or Depression: Results of a Randomized Trial.

BACKGROUND: Anxiety and depressive symptoms are prevalent in patients with inflammatory bowel disease (IBD) and may negatively influence disease course. Disease activity could be affected positively by treatment of psychological symptoms. We investigated the effect of cognitive behavioral therapy (CBT) on clinical disease course in 10-25-year-old IBD patients experiencing subclinical anxiety and/or depression. METHODS: In this multicenter parallel group randomized controlled trial, IBD patients were randomized to disease-specific CBT in addition to standard medical care (CBT + care us usual [CAU]) or CAU only. The primary outcome was time to first relapse in the first 12 months. Secondary outcomes were clinical disease activity, fecal calprotectin, and C-reactive protein (CRP). Survival analyses and linear mixed models were performed to compare groups. RESULTS: Seventy patients were randomized (CBT+CAU = 37, CAU = 33), with a mean age of 18.3 years (±50% < 18 y, 31.4% male, 51.4% Crohn's disease, 93% in remission). Time to first relapse did not differ between patients in the CBT+CAU group vs the CAU group (n = 65, P = 0.915). Furthermore, clinical disease activity, fecal calprotectin, and CRP did not significantly change over time between/within both groups. Exploratory analyses in 10-18-year-old patients showed a 9% increase per month of fecal calprotectin and a 7% increase per month of serum CRP in the CAU group, which was not seen in the CAU+CBT group. CONCLUSIONS: CBT did not influence time to relapse in young IBD patients with subclinical anxiety and/or depression. However, exploratory analyses may suggest a beneficial effect of CBT on inflammatory markers in children.

[An infant without nails]. / Een neonaat zonder nagels.

A 2-week-old boy, born after an uncomplicated pregnancy of consanguineous parents, was seen with congenital absence of all nails on fingers and toes. After 6 weeks marginal nail growth was seen. Because there were no other congenital abnormalities, this was considered to be anonychia congenita; probably caused by a recessive defect of the R-spondin 4-coding gene.