FCGR3A V(176) polymorphism for systemic lupus erythematosus susceptibility in Mexican population

The objective of this study is to establish whether there is an association between the presence of FCGR3A V(176) polymorphism with SLE or its manifestations. We included 94 patients according to the 1982 ACR criteria as well as 98 controls matched by age and gender. The 11 ACR diagnostic criteria were analyzed on the clinical files. The polymorphism FCGR3A V(176) was determined by direct sequencing. There was not an association between the polymorphism FCGR3A V(176) with SLE or its main manifestations. The allelic frequency for F(176) was: 0.80 and 0.72 in cases and controls, respectively (P?=?0.09, IC95%: 0.42?C1.07); and the genotypic frequency in the group of cases was: 0.65 for homozygotes F(176)/F(176), 0.30 for heterozygotes and 0.05 for the homozygotes V(176)/V(176), while for the control group it was 0.53, 0.39 and 0.08, respectively. The polymorphism FCGR3A V(176) is not associated with SLE or any of its manifestations in patients with SLE from the West of Mexico.     

Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family

Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.     

Immunfluoreszenz

The existence of autoantibodies is characteristic of several rheumatic diseases and indicates impaired self-tolerance. The analysis and detection of these autoantibodies represent an important factor in the diagnosis of rheumatic diseases. Immunofluorescence is an important technique in basic science and also one of the most commonly used techniques for the characterization of autoantibodies in clinical medicine thus facilitating the diagnosis and evaluation of rheumatic diseases. Addition of serum samples from individual patients to an antigen substrate (present in fixed cells or tissue) results in a specific reaction between the autoantibodies and the respective antigens. Incubation with a second, fluorescence-linked, anti-human antibody which binds to the primary antigen-bound autoantibodies from patient serum results in fluorescence patterns which are characteristic of certain rheumatic diseases.     

Is proliferative colonic disease presentation changing?

AIM: To compare the site, age and gender of cases of colorectal cancer (CRC) and polyps in a single referral center in Rome, Italy, during two periods.METHODS: CRC data were collected from surgery/pathology registers, and polyp data from colonoscopy reports. Patients who met the criteria for familial adenomatous polyposis, hereditary non-polyposis colorectal cancer syndrome or inflammatory bowel disease were excluded from the study. Overlap of patients between the two groups (cancers and polyps) was carefully avoided. The χ² statistical test and a regression analysis were performed.RESULTS: Data from a total of 768 patients (352 and 416 patients, respectively, in periods A and B) who underwent surgery for cancer were collected. During the same time periods, a total of 1693 polyps were analyzed from 978 patients with complete colonoscopies (428 polyps from 273 patients during period A and 1265 polyps from 705 patients during period B). A proximal shift in cancer occurred during the latter years for both sexes, but particularly in males. Proximal cancer increased > 3-fold in period B compared to period A in males [odds ratio (OR) 3.31, 95%CI: 2.00-5.47; P < 0.0001). A similar proximal shift was observed for polyps, particularly in males (OR 1.87, 95%CI: 1.23-2.87; P < 0.0038), but also in females (OR 1.62, 95%CI: 0.96-2.73; P < 0.07).CONCLUSION: The prevalence of proximal proliferative colonic lesions seems to have increased over the last decade, particularly in males.     

A curious lobe

A case of azygos lobe is presented. An azygos lobe is an accessory lobe of the lung that may occasionally be confused with a pathological process such as a bulla, lung abscess or neoplasm. Its pathogenesis is discussed, as are the characteristic x-ray features that enable an accurate diagnosis.     

Peritonealkarzinose

Cytoreductive surgery followed by hyperthermic intraperitoneal chemotherapy (HIPEC) is now an established therapy with a curative option for patients with gastrointestinal and gynecological peritoneal carcinomatosis as well as for primary peritoneal carcinomatous tumors. Decisive for the prognosis is a complete cytoreduction, which in most cases necessitates multi-organ resection in addition to a partial or subtotal parietal peritonectomy (PE). The highest priority is given to maintain an adequate quality of life for the patient while performing maximum tumor resection. The morbidity following PE and HIPEC in experienced centers lies between 25% and 35% with a mortality risk of <5%. Consideration must be given not only to the technical surgical aspects and the intraoperative decision-making but also to the intraoperative management, intensive care therapy, pain therapy, management of complications, physiotherapy and many more. The greatest challenge in the management of peritoneal carcinomatosis is still patient selection. Computed tomography imaging together with ¹⁸fluorodeoxyglucose positron emission tomography (FDG-PET) plays an important role in the assessment of operability.     

Statistical connectivity provides a sufficient foundation for specific functional connectivity in neocortical neural microcircuits

It is well-established that synapse formation involves highly selective chemospecific mechanisms, but how neuron arbors are positioned before synapse formation remains unclear. Using 3D reconstructions of 298 neocortical cells of different types (including nest basket, small basket, large basket, bitufted, pyramidal, and Martinotti cells), we constructed a structural model of a cortical microcircuit, in which cells of different types were independently and randomly placed. We compared the positions of physical appositions resulting from the incidental overlap of axonal and dendritic arbors in the model (statistical structural connectivity) with the positions of putative functional synapses (functional synaptic connectivity) in 90 synaptic connections reconstructed from cortical slice preparations. Overall, we found that statistical connectivity predicted an average of 74 ± 2.7% (mean ± SEM) synapse location distributions for nine types of cortical connections. This finding suggests that chemospecific attractive and repulsive mechanisms generally do not result in pairwise-specific connectivity. In some cases, however, the predicted distributions do not match precisely, indicating that chemospecific steering and aligning of the arbors may occur for some types of connections. This finding suggests that random alignment of axonal and dendritic arbors provides a sufficient foundation for specific functional connectivity to emerge in local neural microcircuits.