Гранитоиды обрамления Криворожской структуры. Проблемы корреляции геологических тел и комплексов

Current population genetic models fail to cope with genetic differentiation for species with large, contiguous and heterogeneous distribution. We show that in such a case, genetic differentiation can be predicted at equilibrium by circuit theory, where conductance corresponds to abundance in species distribution models (SDM). Circuit-SDM approach was used for the phylogeographic study of the lepidopteran cereal stemborer Busseola fusca Füller (Noctuidae) across sub-Saharan Africa. Species abundance was surveyed across its distribution range. SDM models were optimized and selected by cross validation. Relationship between observed matrices of genetic differentiation between individuals, and matrices of resistance distance was assessed through Mantel tests and redundancy discriminant analyses (RDA). A total of 628 individuals from 130 localities in 17 countries were genotyped at 7 microsatellite loci. Six population clusters were found based on a Bayesian analysis. The eastern margin of Dahomey Gap between East and West Africa was the main factor of genetic differentiation. The SDM projections at present, last interglacial and last glacial maximum periods were used for estimation of circuit resistance between locations of genotyped individuals. For all periods of time, when using either all individuals or only East-African individuals, partial Mantel r and RDA analyses conditioning on geographic distance were found significant. Under future projections (year 2080), partial r and RDA significance were different. From this study, it is concluded that analytical solutions provided by circuit theory are useful for the evolutionary management of populations and for phylogeographic analysis when coalescence times are not accessible by approximate Bayesian simulations

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype

Laparoscopic surgery in hepatic, biliary and hematologic diseases : advantages, limits and complications

Organ transplantation and laparoscopic surgery are clearly the two most recent revolutions in actual surgical practice. Laparoscopic surgery really started in 1987, when Philippe MOURET performed the first laparoscopic cholecystectomy (LC) in France. The concept of laparoscopic surgery is to create o working space by insufflating an inert gas (CO2) within the peritoneal cavity. The surgical procedure is performed though a variable number of “key-holes” by using special introduction tubes (trocars) and instruments. The operation is assessed on a video-screen via a camera connected to a rigid fiberoptic (the laparoscope). This procedure is performed on a “closed abdomen” in comparison to open surgery through a laparotomy, and for this reason has at times been called “Nintendo surgery”. Several advantages have been advocated, such as reduced postoperative pain and pulmonary dysfunction, lower stress response to surgery, shorter postoperative hospital stay, earlier return to normal activities and esthetic benefit (3-5). Based on the suggestion than laparoscopic surgery is “minimally-invasive surgery”, LC had a rapid wide spread diffusion among general surgeons all over the world and the approach has been applied to an increasing number of pathologies. According to MEDLINE, 256 publications were dedicated to laparoscopic surgery in 1990. This number rose to 1,064 in 1992, 1,954 in 1994, and 1,415 from January to November 1996n thereby confirming the exposure enthusiasm for the techniques. Almost all types of gastro-intestinal operations have been performed laparoscopically : appendectomy, inguinal hernia repair, antireflux procedures, cardiomyotomy for esophageal achalasia, vagotomies, Billroth II gastrectomy, gastroenterostomy, esophagectomy, treatment of perforated peptic ulcer and small bowel obstruction, gastroplasty for morbid obesity, all types of colorectal resections, small bowel resection for Crohn’s disease … etc. In urology, nephrectomy, adrenalectomy, ureterolithotomy, lymph nodes staging for pelvic cancer, and lymphocele drainage procedure after kidney transplantation have been reported to be feasible laparoscopically. In cardiovascular surgery, new developments include laparoscopically-assisted abdominal aortic aneurysm repair, retroperitoneal approach for aorto-illiac reconstructions, and more recently coronary artery bypass. In hepato-bilio-pancreatic, diseases, laparoscopy has also been applied to various procedures: staging of liver or pancreatic cancers, pancreatic resections, cyst-drainage operation for pancreatic pseudocysts, drainage procedures for acute necrotizing pancreatitis, partial hepatic resections, bilio-digestive anastomosis and gastro-enterostomy for unresectable pancreatic cancer. However, besides the initial data demonstrating the feasibility of the techniques, specific complications related to the techniques less commonly or not observed in open procedures have been increasingly reported : severe hypercarbia or lethal gas embolism due to CO2 insufflation; trocar injuries to the viscus or the major vessels; biliary tract injuries during LC; endobiliary migration of clips used ti secure the cystic duct during LC; intraperitoneal abscesses due to spilled gallstones; and entrapment neuropathy and small bowel entrapment after laparoscopic herniorrhaphy. Some concerns also exist regarding the potential occurrence of tumor cells seeding and trocar site implantation of malignant cells during laparoscopic procedures for malignant diseases due ti the pneumoperitoneum. Among the various procedures performed laparoscopiccaly, cholecystectomy has been the most commonly evaluates. Several consensus conferences have recognized LC as the “gold standard” for removal of the gallbladder. Additionally, prospective randomized controlled studies have proved the safety and the superiority of LC over open procedures. However, a recent controlled trial published nine years after the first LC does not show any significant advantage over open cholecystectomy in terms of hospital stay or postoperative recovery and demonstrates that LC takes longer to perform and is more expensive. Except for appendectomy and inguinal herniorrhaphy, which have been evaluated by controlled trials, most procedures performed laparoscopically have not been scientifically compared to comparable open approaches. Most multicenter evaluations demonstrate that this new approach requires adequate technology, proper and careful use and appropriate training. Moreover, senseless, inadequate, or obsolete procedures have been described in laparoscopic surgery, such as treatment of indirect inguinal hernia by laparoscopic closure of the neck of the sac, thoracoscopic vagotomy without drainage procedure for peptic ulcer disease, laparoscopic intraluminal (intragastric) surgery for early gastric cancer, laparoscopic drainage of liver hydatid in the literature have stressed the need for scientific validation, appropriate patient selection and training. We propose in this thesis to evaluate the role of laparoscopic approach in the management of a selection of patients suffering from being liver diseases (congenital liver cysts and polycystic liver disease), biliary pathologies (gallstones and common bile duct stones, focusing on the problem of biliary tract injury during laparoscopic cholecystectomy), and hematologic disorders requiring splenectomy. The main of this review is first to make a critical analysis of the current management strategies of the abovementioned pathologies, including nonsurgical and conventional surgical approaches, in order to define the exact place of laparoscopic surgery in the management of these patients. On the other hand the purpose of this work is also to define the advantages, the limitations and the complications of laparoscopic surgery using our own experience, the multicenter experience of the Belgian Group for Endoscopic Surgery (B.G.E.S.) and a review of the literatureThèse d'agrégation de l'enseignement supérieur (Faculté de médecine) -- UCL, 199

Les plaies biliaires des cholécystectomies par laparoscopie : [Bile duct injury during laparoscopic cholecystectomy]

Il s'agit d'un éditorial qui concerne une description de deux séries françaises sur les plaies biliaires qui ont été publiées dans Journal de Chirurgie : Puche (P.), Jacquet (E.), Borie (F.) et al., Traitement des complications biliaires après cholécystectomie par coelioscopie : Étude rétrospective de 27 patients. J Chir 2007 ; 144 et Ortega-Deballon (P.), Cheynel (N.), Benoit (L.), di Giacomo (G.), Favre (J.-P.), Rat (P.), Lésions iatrogènes des voies biliaires lors des cholécystectomies. J Chir 2007;144

Actual management of common bile duct stones: a continuous evolving approach.

The management of common bile duct stones (CBDS) has recently changed regarding either a more precise diagnosis of patients at high-risk to harbor CBDS and either the development of new therapeutic modalities. In patients with preoperative predictive suspicion of CBDS, new non-invasive radiologic and endoscopic investigations are now available, namely 3-D spiral CT-cholangiography and magnetic resonance cholangio-pancreatography on one hand, and endoscopic ultrasonography on the other hand. With the development of laparoscopic surgery, two strategies have emerged in order to maintain the minimally invasive nature of the procedure: perioperative endoscopic sphincterotomy or laparoscopic common bile duct exploration. However, considerable laparoscopic expertise, advanced and expansive technologies are required to achieve successful laparoscopic treatment of CBDS. An appropriate intraoperative strategy is mandatory during laparoscopic common bile duct exploration, with specific indications for the transcystic route and for laparoscopic choledochotomy, according to patient's biliary anatomy and stone's characteristics. A preliminary controlled trial has proved the safety, efficacy and excellent postoperative results of such approach. However, the best option of management for patients with CBDS remains open to discussion and the therapeutic choice should depend on the local hospital availability of technical expertise