Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, everted lower eyelids, downslanting palpebral fissures, large ears, high arched palate, long arm span, arachnodactyly, advanced bone age, joint laxity, pectus excavatum, inguinal hernia, and myopia, suggestive of a new subtype of connective tissue disorder (Megarbane et al. AJMG, 2012; 158(A)5: 1185-1189). On clinical follow-up, both patients had multiple inguinal, crural, and abdominal herniae, intestinal occlusions, several huge diverticula throughout the gut and the bladder, and rectal prolapse. In addition, the girl had a mild hearing impairment, and the boy a left diaphragmatic hernia. Here we describe the molecular characterization of this disorder using Whole Exome Sequencing, revealing, in both siblings, a novel homozygous missense variant in the EFEMP1 gene, c.163T > C; p.(Cys55Arg) whose homozygous by descent, autosomal recessive transmission was confirmed through segregation analysis by Sanger sequencing. In addition, the girl exhibited a homozygous mutation in the MYO3A gene, c.1370_1371delGA; p.(Arg457Asnfs*25), associated with non-syndromic deafness. The siblings were also found to harbor a homozygous nonsense variant in the VCPKMT gene. We review the literature and discuss our updated clinical and molecular findings that suggest EFEMP1 to be the probable candidate gene implicated in this novel connective tissue disease.

Single-Incision Laparoscopy Could Be Better than Standard Laparoscopy in Right Colectomy for Cancer.

BACKGROUND: Human natural orifice transluminal endoscopic surgery (NOTES) is slowed down by technical hurdles. Concomitantly, single-incision laparoscopy has been increasingly reported as an alternative. By reducing the invasiveness of standard laparoscopy, we may further reduce postoperative pain, decrease morbidity, preserve abdominal wall, and enhance cosmesis. Such techniques have been widely applied, including in colorectal surgery. The aim of this multicenter study is to compare the results of single-incision right colectomy (SIRC) with the results of the standard laparoscopic right colectomy (SLRC) in patients with colon cancer. METHODS: The files of patients who underwent right colectomy for cancer in five hospitals between January 2010 and December 2013 have been reviewed. Exclusion criteria were open surgery, emergency setting, and American Society of Anesthesiologists (ASA) score >3. Patients were distributed in Groups A (SIRC) or B (SLRC). RESULTS: Five hundred ninety-two patients were included in this study, 336 in Group A and 256 in Group B. Mean operative time was 129.0 minutes (range 65-245) in Group A and 168.1 minutes in the Group B (range 70-290), respectively (P < .001). No mortality occurred in either group. The overall 30-day morbidity rates were 21.4% in Group A and 25% in Group B, respectively (P = .64). The median length of hospital stay was 4.95 days (range 3-14) in Group A and 5.5 days in Group B (range 3-12), respectively (P = .28). Conversion to laparotomy occurred in four patients in each group (P = 1). Length of skin incision was significantly shorter in Group A than in Group B (2.99 ± 0.63 cm versus 4.94 ± 0.65 cm, P < .001). Histological analysis of the operative specimens showed no significant differences. CONCLUSION: SIRC is feasible and sure for patients with colon cancer. As compared with SLRC, SIRC may offer some advantages, including lower operative morbidity, shorter hospital stay, and better cosmoses, without compromising the oncological quality of the resected specimen.

Roux-en-Y fistulo-jejunostomy as a salvage procedure in patients with post-sleeve gastrectomy fistula: mid-term results.

BACKGROUND: Sleeve gastrectomy (SG) is currently the most commonly performed bariatric procedure in France. It achieves both adequate excess weight loss and significant reduction in comorbidities. However, fistula is still the most common complication after SG, occurring in more than 3 % of cases, even in specialized centers (Gagner and Buchwald in Surg Obes Relat Dis 10:713-723. doi: 10.1016/j.soard.2014.01.016 , 2014). Its management is not standardized, long, and challenging. We have already reported the short-term results of Roux-en-Y fistulo-jejunostomy (RYFJ) as a salvage procedure in patients with post-SG fistula (Chouillard et al. in Surg Endosc 28:1954-1960 doi: 10.1007/s00464-014-3424-y , 2014). In this study, we analyzed the mid-term results of the RYFJ emphasizing its endoscopic, radiologic, and safety outcome. METHODS: Between January 2007 and December 2013, we treated 75 patients with post-SG fistula, mainly referred from other centers. Immediate management principles included computerized tomography (CT) scan-guided drainage of collections or surgical peritoneal lavage, nutritional support, and endoscopic stenting. Ultimately, this approach achieved fistula control in nearly two-thirds of the patients. In the remaining third, RYFJ was proposed, eventually leading to fistula control in all cases. The mid-term results (i.e., more than 1 year after surgery) were assessed using anamnesis, clinical evaluation, biology tests, upper digestive tract endoscopy, and IV-enhanced CT scan with contrast upper series. RESULTS: Thirty patients (22 women and 8 men) had RYFJ for post-SG fistula. Mean age was 40 years (range 22-59). Procedures were performed laparoscopically in all but 3 cases (90 %). Three patients (10 %) were lost to follow-up. Mean follow-up period was 22 months (18-90). Mean body mass index (BMI) was 27.4 kg/m(2) (22-41). Endoscopic and radiologic assessment revealed no persistent fistula and no residual collections. CONCLUSIONS: Despite the lack of long-term follow-up, RYFJ could be a safe and feasible salvage option for the treatment of patients with post-SG fistula, especially those who failed conservative management. Mid-term outcome analysis confirms that fistula control is durable. Weight loss panel is satisfactory.

Roux-En-Y Fistulo-Jejunostomy as a salvage procedure in patients with post-sleeve gastrectomy fistula.

BACKGROUND: Sleeve gastrectomy (SG) is currently the most common bariatric procedure in France. It achieves both adequate excess weight loss and significant reduction of comorbidities. However, leak is still the most common complication after SG. Nevertheless, its risk of occurrence is <3% in specialized centers. Its management is difficult, long, and challenging. Although the procedure is commonly endoscopic and nonoperative, the management of post-SG fistulas could sometimes be surgical, including peritoneal lavage, abscess drainage, disrupted staple line suturing, resleeve, gastric bypass, or total gastrectomy. Roux-en-Y fistulojejunostomy (RYFJ) has been described as a salvage option. In this study, we report the early results of RYFJ for post-SG fistula, emphasizing indications, operative technique, and short-term outcome. METHODS: Between January 2007 and December 2012, we treated 62 patients with post-SG fistula. Before surgery, intra-abdominal or thoracic abscesses or collections were either excluded or treated by computed tomographic scan-guided drainage or even surgery. Endoscopic stenting was then attempted. After optimization of the nutritional status in case of failure of endoscopic measures, some of the patients underwent RYFJ. RESULTS: Between January 2007 and December 2012, a total of 21 patients (16 women and 5 men) had RYFJ for post-SG fistula. Mean age was 47 years (range, 22-59 years). Procedures were performed laparoscopically in all but 3 cases. The rate of secondary conversion to laparotomy was 11.1%. The was no mortality. The postoperative morbidity rate was less than 5%. The rate of fistula control was eventually 100%. CONCLUSIONS: RYFJ is a safe and feasible salvage procedure for the treatment of patients with post-SG fistula. Longer outcome analysis is, however, needed especially regarding the physiological and metabolic behavior of the procedure.