Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families.

Patterns of quadrupedal locomotion in a vertical clinging and leaping primate (Propithecus coquereli) with implications for understanding the functional demands of primate quadrupedal locomotion.

Objectives: Many primates exhibit a suite of characteristics that distinguish their quadrupedal gaits from non-primate mammals including the use of a diagonal sequence gait, a relatively protracted humerus at touchdown, and relatively high peak vertical forces on the hindlimbs compared to the forelimbs. These characteristics are thought to have evolved together in early, small-bodied primates possibly in response to the mechanical demands of navigating and foraging in a complex arboreal environment. It remains unclear, however, whether primates that employ quadrupedalism only rarely demonstrate the common primate pattern of quadrupedalism or instead use the common non-primate pattern or an entirely different mechanical pattern from either group.

Jinx or Not?: There Is Nothing Like a "Black Cloud" Syndrome.

Objective: The aim of this study was to ascertain the validity of the widespread belief in the existence of jinxed physicians during night duty in emergency department (ED).

Methods: We conducted a retrospective study involving 13 pediatricians with more than 12 spells of night duty (8 PM to 8.30 AM) in the ED at the "La Timone" Medical School Hospital in Marseilles, France, during the inclusion period (from November 1, 2010, to October 31, 2011) and 8 night nurses in the same ED.

Successful Treatment of Persistent Postcholecystectomy Bile Leak Using Percutaneous Cystic Duct Coiling.

Laparoscopic cholecystectomy is one of the most commonly performed operations worldwide. Cystic duct is the most common site of bile leak after cholecystectomy. The treatment of choice is usually conservative.

Altered Expression of Bone Morphogenetic Protein Accessory Proteins in Murine and Human Pulmonary Fibrosis.

Idiopathic pulmonary fibrosis is a chronic, progressive fibrotic disease with a poor prognosis. The balance between transforming growth factor β1 and bone morphogenetic protein (BMP) signaling plays an important role in tissue homeostasis, and alterations can result in pulmonary fibrosis. We hypothesized that multiple BMP accessory proteins may be responsible for maintaining this balance in the lung.

[Tissue-specific membrane effects of estrogen receptor alpha].

Estrogen receptors (ER) are used as therapeutic targets, either for contraception or for the hormonal replacement therapy in menopausal women, but also in physiopathology for breast cancer treatment. It is therefore important to understand the tissue-specificity of the actions of ERα to optimize the benefits/risks ratio in each tissue. Besides the conventional nuclear ERα acting as a transcription factor, many studies have demonstrated that ERα is also able to mediate extra nuclear signaling, enabling rapid actions of estrogen.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing.

Tools for quantitative form description; an evaluation of different software packages for semi-landmark analysis.

The challenging complexity of biological structures has led to the development of several methods for quantitative analyses of form. Bones are shaped by the interaction of historical (phylogenetic), structural, and functional constrains. Consequently, bone shape has been investigated intensively in an evolutionary context.

Epidemiological study of soft-tissue sarcomas in Ireland.

Soft-tissue sarcomas (STS) account for 1% of adult and 7% of pediatric malignancies. Histopathology and classification of these rare tumors requires further refinements. The aim of this paper is to describe the current incidence and survival of STS from 1994 to 2012 in Ireland and compare these with comparably coded international published reports.

Opportunistic Pulmonary Bordetella hinzii Infection after Avian Exposure.

We report 2 cases of pulmonary Bordetella hinzii infection in immunodeficient patients. One of these rare cases demonstrated the potential transmission of the bacteria from an avian reservoir through occupational exposure and its persistence in humans. We establish bacteriologic management of these infections and suggest therapeutic options if needed.

Pulmonary Nodular Lymphoid Hyperplasia presenting cavitating pulmonary nodules.

Pulmonary Nodular Lymphoid Hyperplasia (PNLH) is a rare benign pulmonary disorder characterized by a localized, reactive polyclonal lymphoproliferation. Although the radiological features of this disease have not been clearly defined, they usually consist of a solitary non-cavitatory pulmonary nodule. In this report, we describe two cases of histologically confirmed PNLH presenting as multiple bilateral cavitatory lesions on CT Thorax.

Tissue-Specific Regulation of Drosophila NF-x03BA;B Pathway Activation by Peptidoglycan Recognition Protein SC.

In Drosophila, peptidoglycan (PGN) is detected by PGN recognition proteins (PGRPs) that act as pattern recognition receptors. Some PGRPs such as PGRP-LB or PGRP-SCs are able to cleave PGN, therefore reducing the amount of immune elicitors and dampening immune deficiency (IMD) pathway activation. The precise role of PGRP-SC is less well defined because the PGRP-SC genes (PGRP-SC1a, PGRP-SC1b and PGRP-SC2) lie very close on the chromosome and have been studied using a deletion encompassing the three genes.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant conditions characterized by skeletal dysplasia, short stature, and sensorial defects. An early diagnosis is critical to providing relevant patient care and follow-up, and genetic counseling to affected families. There are no recent exhaustive descriptions of the causal mutations in the literature.

Familial hematological malignancies: ASXL1 gene investigation.

Purpose: Familial aggregation among patients with several hematological malignancies has been revealed. This emphasizes the importance of genetic factors. Only few genes predisposing to familial hematological malignancies have been reported until now due to the low occurrence.

CXCL9 Regulates TGF-β1-Induced Epithelial to Mesenchymal Transition in Human Alveolar Epithelial Cells.

Epithelial to mesenchymal cell transition (EMT), whereby fully differentiated epithelial cells transition to a mesenchymal phenotype, has been implicated in the pathogenesis of idiopathic pulmonary fibrosis (IPF). CXCR3 and its ligands are recognized to play a protective role in pulmonary fibrosis. In this study, we investigated the presence and extent of EMT and CXCR3 expression in human IPF surgical lung biopsies and assessed whether CXCR3 and its ligand CXCL9 modulate EMT in alveolar epithelial cells.

Relationship between serum response factor and androgen receptor in prostate cancer.

Background: Serum response factor (SRF) is an important transcription factor in castrate-resistant prostate cancer (CRPC). Since CRPC is associated with androgen receptor (AR) hypersensitivity, we investigated the relationship between SRF and AR.

Materials And Methods: Transcriptional activity was assessed by luciferase assay.

Combining immunolabeling and catalyzed reporter deposition to detect intracellular saxitoxin in a cyanobacterium.

We combined the use of polyclonal antibodies against saxitoxin with catalyzed reporter deposition to detect production of saxitoxin by the cyanobacterium Cylindrospermopsis raciborskii. The procedure is simple, allows detection of intracellular saxitoxin in cyanobacteria filaments by confocal laser microscopy and is a promising tool to study toxin production and metabolism.

Post mortem study of the depth and circumferential location of sympathetic nerves in human renal arteries--implications for renal denervation catheter design.

Objectives: The aims of this study were to examine human renal arteries and to accurately characterize their sympathetic innervation and location using CD-56 immunohistochemistry stains to highlight Neural Cell Adhesion Molecules (N-CAM).

Background: Porcine models have often formed the basis for design of denervation technology, with only a limited number of human studies available to detail the complex microarray of renal sympathetic nerves.

Methods: Post-mortem renal arteries (N = 14) were harvested and prepared into three sections (proximal, mid, and distal), and then stained using Hematoxylin and Eosin, followed by immunohistochemistry to characterize the expression of CD-56 renal neural tissue.

Do constraints associated with the locomotor habitat drive the evolution of forelimb shape? A case study in musteloid carnivorans.

Convergence in morphology can result from evolutionary adaptations in species living in environments with similar selective pressures. Here, we investigate whether the shape of the forelimb long bones has converged in environments imposing similar functional constraints, using musteloid carnivores as a model. The limbs of quadrupeds are subjected to many factors that may influence their shape.