ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature and brachydactyly, is caused by mutations in the ß3-glucosyltransferase (B3GLCT) gene. Protein O-fucosyltransferase 2 (POFUT2) and B3GLCT work sequentially to add an O-linked glucose ß1-3fucose disaccharide to properly folded thrombospondin type 1 repeats (TSRs). Forty-nine proteins are predicted to be modified by POFUT2, and nearly half are members of the ADAMTS superfamily. Previous studies suggested that O-linked fucose is essential for folding and secretion of POFUT2-modified proteins and that B3GLCT-mediated extension to the disaccharide is essential for only a subset of targets. To test this hypothesis and gain insight into the origin of PTRPLS developmental defects, we developed and characterized two mouse B3glct knockout alleles. Using these models, we tested the role of B3GLCT in enabling function of ADAMTS9 and ADAMTS20, two highly conserved targets whose functions are well characterized in mouse development. The mouse B3glct mutants developed craniofacial and skeletal abnormalities comparable to PTRPLS. In addition, we observed highly penetrant hydrocephalus, white spotting and soft tissue syndactyly. We provide strong genetic and biochemical evidence that hydrocephalus and white spotting in B3glct mutants resulted from loss of ADAMTS20, eye abnormalities from partial reduction of ADAMTS9 and cleft palate from loss of ADAMTS20 and partially reduced ADAMTS9 function. Combined, these results provide compelling evidence that ADAMTS9 and ADAMTS20 were differentially sensitive to B3GLCT inactivation and suggest that the developmental defects in PTRPLS result from disruption of a subset of highly sensitive POFUT2/B3GLCT targets such as ADAMTS20.

Laparoscopic common bile duct exploration in elderly patients: is there still a difference?

PURPOSE: Although surgery is frequently not the first treatment option in elderly patients diagnosed with common bile duct stones (CBDS) because of the fear of high morbidity and mortality rates, there are few data about the safety and efficacy of laparoscopic common bile duct exploration (LCBDE) in the elderly. METHODS: From February 2004 to January 2012, 94 patients underwent LCBDE at our center. Data about sex, age, comorbidity, American Society of Anesthesiologists (ASA) score, conversion to open surgery and bile duct clearance rate, postoperative complications, need for reoperation, and mortality were analyzed comparing patients of age 70 or older (group A, n=38) with patients aged under 70 (group B, n=56). RESULTS: Elderly patients had significantly more preoperative risk factors. Stone extraction was equally successful in both groups (89.5% in group A vs. 96.4% in group B, P=0.176). Six patients developed medical complications (7.9% in group A vs. 5.4% in group B, P=0.621). Surgical morbidity was equivalent for both groups (13.2% in group A vs. 10.7% in group B, P=0.718). Four patients in each group experienced some grade of bile leakage. Three patients were reoperated (1 patient in group A because of a biliary peritonitis and 2 in group B after an intra-abdominal hemorrhage). There were no mortality cases directly related to surgery. CONCLUSIONS: This study reveals that LCBDE is safe in the elderly patients and results are not different from those described in the general population. Patients with choledocholithiasis should be offered to undergo an LCBDE irrespective of their age at diagnosis.

Hernia transilíaca postraumática / Post-traumatic transiliac hernia

No disponible

Sistema de cierre asistido por vacío en heridas complejas. Estudio retrospectivo / A vacuum assisted closure system in complex wounds: a retrospective study

Introducción La terapia de cierre asistido por vacío (VAC) es un sistema no invasivo y dinámico que ayuda a promover la cicatrización mediante la aplicación de presión negativa en el lugar de la herida, favoreciendo la reducción del área de la herida, eliminando el exceso de fluidos y estimulando la angiogénesis. Introducción El objetivo de este trabajo ha sido describir nuestra experiencia con la terapia VAC en heridas complejas. Material y método Analizamos de forma retrospectiva nuestra experiencia entre abril del 2007 y agosto del 2008. Empleamos 2 tipos de terapia VAC, la «suprafascial» y el dispositivo para abdomen abierto o «intraabdominal». Se aplicó estadística descriptiva con cálculo de porcentajes y medias. Resultados La terapia VAC fue empleada en un total de 20 pacientes con heridas complejas, de las cuales 16 (80%) tenían una localización abdominal y el resto 4 (20%) otras localizaciones. En 17 (85%) pacientes el dispositivo VAC empleado fue «suprafascial», mientras que en los otros 3 (15%) se utilizó el dispositivo VAC «intraabdominal». Durante la terapia VAC tuvimos 2 casos (10%) de fístula, una urinaria y otra entérica. En ambos casos, la modalidad VAC empleada fue la «intraabdominal» y las fístulas se resolvieron antes de la retirada de la terapia VAC. La estancia media hospitalaria fue de 38,3 días (7–136). No hubo mortalidad directamente relacionada con la terapia VAC. Dos pacientes (10%) fallecieron en situación de shock séptico refractario, mientras que el resto (90%) vive en la actualidad. El dispositivo VAC «suprafascial» se mantuvo una media de 29,17 días (1–77), y el «intraabdominal» 18 días (7–49). El coste por paciente se estimó en 3.197,97 € (119,1–10.780,25).Conclusiones La terapia VAC puede mejorar y acelerar la cicatrización de las heridas abdominales complicadas también en presencia de contaminación grave o fístulas intestinales (AU)

Introduction Vacuum-assisted closure (VAC) therapy is a dynamic and non-invasive system for improving wound healing. This novel therapy is based on applying air suction at a controlled sub-atmospheric pressure. The most important benefits of this therapy include, a reduction in the wound area together with induction of new granulation tissue formation, effective wound cleansing (removal of small tissue by suction), and the continuous removal of wound exudate. Introduction The aim of this study was to describe our experience with VAC therapy for complex wounds. Material and method We retrospectively evaluated our experience with VAC therapy between April 2007 and August 2008. We employed a “suprafascial” VAC system and an open abdomen VAC system. Descriptive statistical techniques were applied and percentages and means were calculated. Results VAC therapy was applied in 20 patients, of whom 16(80%) had abdominal complex wounds, and 4(20%) in other locations. We employed a “suprafascial” VAC system in 17 patients (85%) and an “intra-abdominal” VAC system in 3 patients (15%). Two patients (10%) developed fistula during “intra-abdominal” VAC therapy (urinary and enteric) but the closure was achieved before therapy was finished. Mean hospital stay was 38.3 days (7–136). No mortality was directly due to the VAC system. Two patients (10%) died due to their septic condition and the rest are still alive. Mean therapy length was 29.17 days (1–77) in the “suprafascial” group and 18 days (7–49) in the “intra-abdominal” group. Average costs were 3197.97 € (119.1–10780.25) per patient. Conclusions VAC therapy can improve and accelerate abdominal wound healing also in the presence of infection and bowel fistula (AU)

[A vacuum assisted closure system in complex wounds: a retrospective study]. / Sistema de cierre asistido por vacío en heridas complejas. Estudio retrospectivo.

INTRODUCTION: Vacuum-assisted closure (VAC) therapy is a dynamic and non-invasive system for improving wound healing. This novel therapy is based on applying air suction at a controlled sub-atmospheric pressure. The most important benefits of this therapy include, a reduction in the wound area together with induction of new granulation tissue formation, effective wound cleansing (removal of small tissue by suction), and the continuous removal of wound exudate. The aim of this study was to describe our experience with VAC therapy for complex wounds. MATERIAL AND METHOD: We retrospectively evaluated our experience with VAC therapy between April 2007 and August 2008. We employed a "suprafascial" VAC system and an open abdomen VAC system. Descriptive statistical techniques were applied and percentages and means were calculated. RESULTS: VAC therapy was applied in 20 patients, of whom 16(80%) had abdominal complex wounds, and 4(20%) in other locations. We employed a "suprafascial" VAC system in 17 patients (85%) and an "intra-abdominal" VAC system in 3 patients (15%). Two patients (10%) developed fistula during "intra-abdominal" VAC therapy (urinary and enteric) but the closure was achieved before therapy was finished. Mean hospital stay was 38.3 days (7-136). No mortality was directly due to the VAC system. Two patients (10%) died due to their septic condition and the rest are still alive. Mean therapy length was 29.17 days (1-77) in the "suprafascial" group and 18 days (7-49) in the "intra-abdominal" group. Average costs were 3197.97 euro (119.1-10780.25) per patient. CONCLUSIONS: VAC therapy can improve and accelerate abdominal wound healing also in the presence of infection and bowel fistula.