Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to contain many ID-related genes and males show a marked predominance for intellectual disability. Here we report two females with syndromic intellectual disability. The first individual was relatively mild in her presentation with mild-moderate intellectual disability, hydronephrosis and altered pigmentation along the lines of Blaschko without additional congenital anomalies. A second female presented shortly after birth with dysmorphic facial features, post-axial polydactyly and, on follow-up assessment, demonstrated moderate intellectual disability. Chromosomal studies for Individual 1 identified an X-chromosome deletion due to a de novo pericentric inversion; the inversion breakpoint was associated with deletion of the 5′UTR of the USP9X, a gene which has been implicated in a syndromic intellectual disability affecting females. The second individual had a de novo frameshift mutation detected by whole-exome sequencing that was predicted to be deleterious, NM_001039590.2 (USP9X): c.4104_4105del (p.(Arg1368Serfs*2)). Haploinsufficiency of USP9X in females has been associated with ID and congenital malformations that include heart defects, scoliosis, dental abnormalities, anal atresia, polydactyly, Dandy Walker malformation and hypoplastic corpus callosum. The extent of the congenital malformations observed in Individual 1 was less striking than Individual 2 and other individuals previously reported in the literature, and suggests that USP9X mutations in females can have a wider spectrum of presentation than previously appreciated

Colostomy closure: how to avoid complications

Purpose: Colostomy is an operation frequently performed in pediatric surgery. Despite its benefits, it can produce significant morbidity. In a previous publication we presented our experience with the errors and complications that occurred during cases of colostomy creation. We now have focused in the morbidity related to the colostomy closure. The technical details that might have contributed to the minimal morbidity we experienced are described. Methods: The medical records of 649 patients who underwent colostomy closure over a 28-year period were retrospectively reviewed looking for complications following these procedures. Our perioperative protocol for colostomy closure consisted in: clear fluids by mouth and repeated proximal stoma irrigations 24 h prior to the operation. Administration of IV antibiotics during anesthesia induction and continued for 48 h. Meticulous surgical technique that included: packing of the proximal stoma, plastic drape to immobilize the surgical field, careful hemostasis, emphasis in avoiding contamination, cleaning the edge of the stomas to allow a good 2-layer, end-to-end anastomosis with separated long-term absorbable sutures, generous irrigation of the peritoneal cavity and subsequent layers with saline solution, closure by layers to avoid dead space, and avoidance of hematomas. No drains and no nasogastric tubes were used. Oral fluids were started the day after surgery and patients were discharged 48-72 h after the operation. Results: The original diagnoses of the patients were: anorectal malformation (583), Hirschsprung\u27s disease (53), and others (13). 10 patients (1.5%) had complications: 6 had intestinal obstruction (5 due to small bowel adhesions, 1 had temporary delay of the function of the anastomosis due to a severe size discrepancy between proximal and distal stoma with a distal microcolon) and 4 incisional hernias. There were no anastomotic dehiscences or wound infection. There was no bleeding, no anastomotic stricture and no mortality. Conclusion: Based on this experience we believe that colostomy closure can be performed with minimal morbidity provided a meticulous technique is observed. © 2010 The Author(s)

Single- versus two- layer intestinal anastomosis: a meta-analysis of randomized controlled trials

BACKGROUND: To compare single- with two- layer intestinal anastomosis after intestinal resection: a meta-analysis of randomized controlled trials. METHODS: Randomized controlled trials comparing single- with two-layer intestinal anastomosis were identified using a systematic search of Medline, Embase and the Cochrane Library Databases covering articles published from 1966 to 2004. Outcome of primary interest was postoperative leak. A risk ratio for trial outcomes and weighted pooled estimates for data were calculated. A fixed-effect model weighted using Mantel-Haenszel methods and a random-effect model using DerSimonian-Laird methods were employed. RESULTS: Six trials were analyzed, comprising 670 participants (single-layer group, n = 299; two-layer group, n = 371). Data on leaks were available from all included studies. Combined risk ratio using DerSimonian-Laird methods was 0.91 (95% CI = 0.49 to 1.69), and indicated no significant difference. Inter-study heterogeneity was significant (χ(2 )= 10.5, d.f. = 5, p = 0.06). CONCLUSION: No evidence was found that two-layer intestinal anastomosis leads to fewer post-operative leaks than single layer. Considering duration of the anastomosis procedure and medical expenses, single-layer intestinal anastomosis appears to represent the optimal choice for most surgical situations

Strategies to Enhance Communication With Telemental Health Measurement-Based Care (tMBC)

Telehealth has always held great promise to increase access to mental health care, never more so than in the age of COVID-19, when clients cannot or will not come to the clinician's physical location. A feasible and effective alternative to traditional in-person care, telemental health requires that clinicians adopt new strategies to build and maintain communication and the therapeutic relationship. This can be particularly troublesome for clinicians new to the modality, who may feel the loss of the "in-session" experience more acutely. As an evidence-based practice that is transtheoretical and transdiagnostic, telemental health measurement-based care (tMBC) is the ideal complement to enhance systematic ongoing monitoring, treatment engagement, and therapeutic alliance in the context of the virtual encounter. While tMBC mechanisms of actions are still being explored, there is promising evidence that tMBC improves clinician responsivity to acute client concerns. By using client-reported measures, tMBC provides an important pathway for clients to systematically communicate with their clinicians, which can guide therapeutic actions and contribute to shared understanding. This brief report summarizes the evidence for tMBC as a patient-centered communication tool and provides recommendations for evidence-based and practice-informed strategies to integrate tMBC into telehealth solutions, with suggestions for monitoring new concerns related to the COVID-19 crisis. Clinical Impact Statement This brief report suggests practical strategies to integrate measurement-based care into telemental health services. With a focus on feasibility, recommendations address clinical workflow and considerations for measures selection. COVID-19 specific information related to reimbursement and measures is provided

Umbilical one-puncture laparoscopic-assisted appendectomy in children

info:eu-repo/semantics/publishe