Genetics of venous thrombosis: insights from a new genome wide association study

Background: Venous Thrombosis (VT) is a common multifactorial disease associated with a major public health burden. Genetics factors are known to contribute to the susceptibility of the disease but how many genes are involved and their contribution to VT risk still remain obscure. We aimed to identify genetic variants associated with VT risk. Methodology/Principal Findings: We conducted a genome-wide association study (GWAS) based on 551,141 SNPs genotyped in 1,542 cases and 1,110 controls. Twelve SNPs reached the genome-wide significance level of 2.0×10−8 and encompassed four known VT-associated loci, ABO, F5, F11 and FGG. By means of haplotype analyses, we also provided novel arguments in favor of a role of HIVEP1, PROCR and STAB2, three loci recently hypothesized to participate in the susceptibility to VT. However, no novel VT-associated loci came out of our GWAS. Using a recently proposed statistical methodology, we also showed that common variants could explain about 35% of the genetic variance underlying VT susceptibility among which 3% could be attributable to the main identified VT loci. This analysis additionally suggested that the common variants left to be identified are not uniformly distributed across the genome and that chromosome 20, itself, could contribute to ∼7% of the total genetic variance. Conclusions/Significance: This study might also provide a valuable source of information to expand our understanding of biological mechanisms regulating quantitative biomarkers for VT

Questions aux professeurs Daniel Van Gansbeke et Emmanuel Tiret

SCOPUS: re.jinfo:eu-repo/semantics/publishe

Brief Communication

International audienceWith the increased spectral resolution made possible at high fields, a second, smaller inorganic phosphate resonance can be resolved on $^{31}$P magnetic resonance spectra in the rat brain. Saturation transfer was used to estimate de $novo$ adenosine triphosphate synthesis reaction rate. While the main inorganic phosphate pool is used by adenosine triphos-phate synthase, the second pool is inactive for this reaction. Accounting for this new pool may not only help us understand $^{31}$P magnetic resonance spectroscopy metabolic profiles better but also better quantify adenosine triphos-phate synthesis

Emphysematous cholecystitis Colecistite enfisematosa

BACKGROUND: Emphysematous cholecystitis is life-threatening condition characterized by gas-forming infection of the gallbladder. It is mostly seems in old male patients with systemic, specially diabetes and vascular diseases. CASE REPORT: - A 30-year-old man without previous diseases was admitted because of right upper quadrant pain and nausea. On admission the patient was febrile (38.7o) with normal bilirubin levels. The white blood count was 26700/µl and reactive protein C was 470. Axial sections of single slice computed tomography imaging (section thickness 5 mm), revealed gallbladder wall enhancement after i.v. contrast, as well as dilatation of the gallbladder with intraluminal air. The patient underwent open cholecystectomy. The culture of the bile showed clostridium perfringes. The postoperative course of the patient was uneventful. CONCLUSION: This is a rare form of cholecystitis that carries a high mortality and usually present insidious clinical signs. CT is the most accurate imaging technique. Antibiotic therapy should begin quickly and include coverage of common pathogens, particularly Clostridia. Surgical intervention should take place as early as possible.<br>INTRODUÇÃO: Colecistite enfisematosa é uma condição de risco de vida caracterizada por infecção da vesícula biliar por agentes produtores de gás. Na sua apresentação mais comum atinge preferencialmente homens idosos portadores de doenças sistêmicas em especial diabetes e vasculopatias. RELATO DO CASO: Paciente do sexo masculino, 30 anos de idade e sem co-morbidades que se apresenta ao pronto-socorro com história de dor abdominal em hipocôndrio direito há cinco dias, febre (38,7o) e náuseas. Os exames laboratoriais mostravam leucocitose (26700/µl) e elevação dos marcadores de inflamação (proteína C reativa, PCR 470). A tomografia computadorizada do abdome revelou realce da parede vesicular após injeção de contraste i.v., bem como dilatação da vesícula com a presença de ar intraluminal. O paciente foi submetido à colecistectomia através de incisão subcostal direita. A cultura da bile foi positiva para Clostridium perfringes. A evolução pós-operatória do paciente foi satisfatória. CONCLUSÃO: Esta é uma rara forma de colecistite com alta mortalidade e usualmente se apresenta com sinais clínicos insidiosos.Tomografia computadorizada é a mais acurada forma de diagnóstico de imagem. Antibioticoterapia de largo espectro deve começar rapidamente incluindo proteção à Clostridia. Procedimento cirúrgico deve ser indicado tão cedo quanto possível

Results of salvage abdominoperineal resection for anal cancer after radiotherapy

PURPOSE: Nonsurgical treatment of anal cancer by radiotherapy alone or combined with chemotherapy is the standard therapy for epidermoid carcinoma of the anal canal Surgery is only recommended for treatment failures. Very few studies have been devoted to the outcome of this salvage surgery The aim of this study is to evaluate these results METHODS: A retrospective review from 1986 to 1995 revealed 21 patients with residual or recurrent anal canal carcinoma after initial radiotherapy, operated on by abdominoperineal resection. Patients were reviewed as to age, gender, initial treatment, any symptoms of recurrence, duration until recurrence, any diagnosis imaging, treatment, and outcome. RESULTS: None of these 21 patients had known lymph node involvement or metastases at radiotherapy or at salvage abdominoperineal resection Eleven patients had residual disease (positive biopsy less than 6 months after the end of radiotherapy) and 10 had tumor recurrence (more than 6 months after cessation of treatment) Recurrence occurred at a mean of 15 (range, 9-41) months after radiotherapy. All 21 patients underwent an abdominoperineal resection. Pathologic examination of the 21 specimens showed complete excision in all cases except one and lymph node metastases in two cases. There was no perioperative mortality. The mean follow-up after surgery was 40 months, no patients were lost to follow-up Of the 21 patients, 10 died and 11 lived, of whom 9 are disease free. The overall survival rate at three years after salvage abdominoperineal resection was 58 percent The overall survival rate for patients with residual disease (vs. recurrence) at three years was 72 percent (vs. 29 percent) and at five years was 60 percent (vs 0 percent, P = 0.06) CONCLUSIONS: Salvage abdominoperineal resection for anal cancer can be expected to yield a number of survivors from residual disease, but the low rate of survival after abdominoperineal resection for recurrent disease suggests the need for additional postoperative treatment if salvage abdominoperineal resection is performed.</p

Management of postoperative bladder emptying after proctectomy in men for rectal cancer. A retrospective study of 190 consecutive patients

International audiencePurposeEvaluation of urinary drainage after rectal resection and identification of criteria associated with postoperative urinary dysfunction (UD). UD remains a clinical problem for up to two thirds of patients after rectal resection. Currently, there are no guidelines concerning duration or type of drainage.MethodsOne hundred ninety consecutive rectal resections (abdomino-perineal resection (APR = 47), mechanical coloanal anastomosis (MechCAA = 48), manual coloanal anastomosis (ManCAA = 47), colorectal anastomosis (CRA = 48)) in male patients were included. In patients with a transurethral catheterization (TUC), the drainage was removed at day 5. Patients with a suprapubic catheterization (SPC) underwent drainage removal according to the results of a clamping test at day 5. UD was defined as drainage removal after day 6 and/or acute urinary retention (AUR).ResultsDrainage types were SPC (n = 136, 72 %) and TUC (n = 54, 28 %). SPC was used more frequently after total mesorectal excision (TME) (APR, ManCAA, MechCAA) (83–92 %). Complications rates of SPC and TUC were 20 and 9 %. The clamping test was positive for 61 patients (48 %), and SPC was removed before/on POD6 without any episode of AUR. After TUC removal, two patients (4 %) had AUR. Seventy-two (38 %) patients had UD: 11 (6 %) were discharged with an indwelling catheter, and in 61 (32 %), the catheter was removed after day6. Three independent factors were associated with UD: diabetes (OR = 2.9 (1.2–7.7)), urological history (OR = 2.9 (1.2–7.6)), and TME (OR = 5.2 (2.3–13.5)).ConclusionThe UD rate after surgery for rectal cancer was 38 %. The clamping test is accurate to prevent AUR after SPC removal. The three risk factors may serve to select good candidates for early catheter removal

Disease activity and cancer risk in inflammatory bowel disease associated with primary sclerosing cholangitis

AIM: To investigate the phenotype of inflammatory bowel disease associated with primary sclerosing cholangitis (PSC-IBD)