Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

Partial monosomy of the long arm of chromosome 7 has been characterized by wide phenotypic manifestations, but holoprosencephaly (HPE) and sacral agenesis have frequently been associated with this chromosomal deletion. A clear relationship between genotype and phenotype remains to be defined in the 7q deletion syndrome. Three patients (1, 2, and 3) were investigated with 7q terminal deletion and compared with similar deletion cases in the literature in order to stratify the phenotypes associated with 7q35 and 7q36 terminal deletion patients.

Perinatal exposure to chlordecone, thyroid hormone status and neurodevelopment in infants: the Timoun cohort study in Guadeloupe (French West Indies).

Background: Perinatal exposure to endocrine-disrupting chemicals may affect thyroid hormones homeostasis and impair brain development. Chlordecone, an organochlorine insecticide widely used in the French West Indies has known estrogenic and progestin properties, but no data is available, human or animal, on its action on thyroid hormone system.

Objectives: Our aim was to evaluate the impact of perinatal exposure to chlordecone on the thyroid hormone system of a sample of infants from the Timoun mother-child cohort in Guadeloupe and their further neurodevelopment.

Heterogeneity in skeletal load adaptation points to a role for modeling in the pathogenesis of osteoporotic fracture.

Genetic, environmental, or hormonal factors may cause heterogeneity in skeletal load response. Individuals with reduced sensitivity to load should require higher strains to generate an adaptive response, consequently have weaker bones and fracture more frequently. The purpose of our study was to determine if stresses (proportional to strains) at the femoral neck under equivalent loads were higher in women with a history of fractures compared with women without fractures.

Interventions to enhance adherence to dietary advice for preventing and managing chronic diseases in adults.

Background: It has been recognized that poor adherence can be a serious risk to the health and wellbeing of patients, and greater adherence to dietary advice is a critical component in preventing and managing chronic diseases.

Objectives: To assess the effects of interventions for enhancing adherence to dietary advice for preventing and managing chronic diseases in adults.

Search Methods: We searched the following electronic databases up to 29 September 2010: The Cochrane Library (issue 9 2010), PubMed, EMBASE (Embase.

Exposure to an organochlorine pesticide (chlordecone) and development of 18-month-old infants.

Chlordecone is a persistent organochlorine pesticide that was used in the French West Indies until the early 1990s for banana weevil borer control. Human exposure to this chemical in this area still occurs nowadays due to consumption of contaminated food. Although adverse effects on neurodevelopment, including tremors and memory deficits, have been documented in experimental studies conducted with rodents exposed during the gestational and neonatal periods, no study has been conducted yet to determine if chlordecone alters child development.

Introducing the patient's perspective in hospital health technology assessment (HTA): the views of HTA producers, hospital managers and patients.

Background: The recent establishment of health technology assessment (HTA) units in University hospitals in the Province of Quebec (Canada) provides a unique opportunity to foster increased participation of patients in decisions regarding health technologies and interventions at the local level. However, little is known about factors that influence whether the patient's perspective is taken into consideration when such decisions are made.

Objective: To explore the practices, perceptions and views of the various HTA stakeholders concerning patient involvement in HTA at the local level.

Interventions for improving the adoption of shared decision making by healthcare professionals.

Background: Shared decision making (SDM) is a process by which a healthcare choice is made jointly by the practitioner and the patient and is said to be the crux of patient-centred care. Policy makers perceive SDM as desirable because of its potential to a) reduce overuse of options not clearly associated with benefits for all (e.g.

Implementing shared decision-making in nutrition clinical practice: a theory-based approach and feasibility study.

Background: There are a growing number of dietary treatment options to choose from for the management of many chronic diseases. Shared decision making represents a promising approach to improve the quality of the decision making process needed for dietary choices that are informed by the best evidence and value-based. However, there are no studies reporting on theory-based approaches that foster the implementation of shared decision making in health professions allied to medicine.

Frequency and patterns of early recanalization after vasectomy.

Background: Our understanding of early post-vasectomy recanalization is limited to histopathological studies. The objective of this study was to estimate the frequency and to describe semen analysis patterns of early recanalization after vasectomy.

Methods: Charts displaying serial post-vasectomy semen analyses were created using the semen analysis results from 826 and 389 men participating in a randomized trial of fascial interposition (FI) and an observational study of cautery, respectively.

Expression of phospholipases A2 and C in human corneal epithelial cells.

Purpose: To achieve a better understanding of the involvement of phospholipases in the inflammation and wound-healing processes in human corneal epithelial cells (HCECs), expression of phospholipase A2s (PLA2s) and phospholipase Cs (PLCs) was examined in the human corneal epithelium.

Methods: Specific primers were designed for RT-PCR amplification of the known secreted (s)PLA2, cytosolic (c)PLA2, and PLC mRNAs. Corresponding PCR products were cloned and the DNA sequenced.

Modulation of human neutrophil responses to CD32 cross-linking by serine/threonine phosphatase inhibitors: cross-talk between serine/threonine and tyrosine phosphorylation.

The interplay between serine/threonine and tyrosine phosphorylation was studied in human neutrophils. The direct effects of calyculin and okadaic acid, potent inhibitors of PP1 and PP2A serine/threonine phosphatases, on the patterns of neutrophil phosphorylation, and their effects on the responses of neutrophils to CD32 cross-linking were monitored. After a 2-min incubation with 10-6 M calyculin, a transient tyrosine phosphorylation of a subset of proteins, among which Cbl and Syk, was observed.