Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience.

Introduction: Recent literature highlights the clinical utility of genetic testing for patients with kidney disease. Genetic testing provides significant benefits for reproductive risk counseling, including the option of in vitro fertilization with preimplantation genetic testing for monogenic disease (PGT-M). PGT-M allows for a significant reduction in risk for a pregnancy affected with the familial disease.

The association of -related significant hemoglobinopathies and low fetal fraction on noninvasive prenatal screening for fetal aneuploidy.

Objectives: -related significant hemoglobinopathies have been anecdotally associated with low fetal fraction on noninvasive prenatal screening (NIPS). We sought to compare the difference in fetal fraction using NIPS in women with -related significant hemoglobinopathies (HSH) and women with normal hemoglobin.

Study Design: This is a retrospective case-control study.

Factors associated with treatment lag in infantile spasms.

Aim: the aim of this study was to evaluate the conditions in which infantile spasms are diagnosed and their possible impact on the course of the disease.

Method: we carried out a retrospective study of the reasons for delayed treatment of infantile spasms (treatment lag) in western France over the period 1990-2003. A total of 156 infants, 87 male (55%) and 69 female (45%), with infantile spasms were identified, in 45 (29%) of whom the spasms were symptomatic.

[Nosocomial infection control in France: a socio-historical approach].

This article argues that the emergence of nosocomial infections as a public health issue is the result of specific socio-cultural processes. An analysis of the French periodical Revue d'Hygiène et de Médecine Sociale over the period 1953-1988 and of the discourse of national actors in the fight against hospital-acquired infections demonstrates that the recognition of nosocomial infections as a public health issue occurred almost independently of objective criteria related to frequency or severity. It is suggested that professional and societal factors provide a better explanation of the emergence of nosocomial infections as a public health issue.

[Impact of care pathway on the delay for initiation of antituberculosis treatment in Conakry, Guinea].

Complex care pathways can result in detrimental treatment delay particularly in tuberculosis patients. The purpose of this retrospective study was to assess the care pathways followed by tuberculosis patients prior to diagnosis and to assess impact on the delay for initiation of treatment in Conakry, Guinea. A total of 112 patients were interviewed at the time of first admission for pulmonary tuberculosis with positive bacilloscopy.

[Preventing chronic back pain at the workplace: action-research at the workplace].

An intervention to prevent chronic back pain and muscular-skeletal disorder (MSD) was implemented in the second half of 2003 at an automobile factory targeting employees from the cable construction division who were redeployed internally to a another division of the plant. This action-research consisted of exploring the benefits of establishing specialized gym classes for back exercises and re-education at the workplace to help prevent chronic lower back pain. Employees who had previously reported lower back pain that was either slightly disabling to none incapacitating and those who were in-line to be redeployed to another division were all offered the opportunity to undertake a medical exam and physical therapy check-up and to respond to a self-administered questionnaire in order to assess the functional state of of each employee, his perception of pain, and the manifestation and impact of this in daily life.

Long-term survival of patients with multiple sclerosis in West France.

In France no data have been published about comparing survival in multiple sclerosis (MS) patients with the general French population. We estimated survival probabilities in MS patients from a major centre for MS in West France. We also compared MS survival with the general population and assessed prognostic parameters.

Mitoxantrone as induction treatment in aggressive relapsing remitting multiple sclerosis: treatment response factors in a 5 year follow-up observational study of 100 consecutive patients.

Background: Mitoxantrone was approved by the French health authority (AFSAPPS) in October 2003 to treat patients with aggressive multiple sclerosis (MS).

Objective: To report the long term effectiveness and safety of mitoxantrone as induction therapy in patients with aggressive relapsing-remitting MS, and to assess treatment response factors.

Material And Methods: 100 consecutive patients with aggressive relapsing-remitting MS received mitoxantrone 20 mg monthly combined with methylprednisolone 1 g for 6 months.

Results of a 12-month quality-circle prescribing improvement programme for GPs.

The impact of a quality-circle GP prescribing improvement programme, implemented in France in 2001-2002, was assessed by a controlled study. The study involved all 27 GPs of three semi-rural areas of Brittany, France. Practice data (overall prescribing cost and markers of prescribing efficiency) were collated in an intention-to-treat analysis, using the Mann-Whitney U test.

Proposal of a scoring scale as a survival predictor in intracranial oligodendrogliomas.

Introduction: Histological, clinical and radiological features, and molecular genetic analysis are among the factors that have been considered in defining the prognosis of oligodendrogliomas (OD), but they have yielded conflicting results. The purpose of this study was to test out a scoring scale based on clinical, radiological, pathological and molecular features.

Material And Method: To identify factors with prognostic significance, we analyzed 87 treated patients with a histological diagnosis of OD.

[From psychometry to neuropsychological disability in multiple sclerosis: a new brief French cognitive screening battery and cognitive risk factors].

Introduction: Cognitive deficit in multiple sclerosis (MS) is a frequent early feature in the disease course, which conditions patients' overall disability. The goals of this study were to validate a reproducible brief screening battery written in French and to examine cognitive risk profiles in patients with a mild physical disability.

Methods: Cognitive performances of 40 patients with EDSS <4.

[Factors linked to delayed diagnosis of tuberculosis in Conakry (Guinea)].

Untreated smear-positive pulmonary tuberculosis constitutes a reservoir of infection which is highly contagious. The present study was conducted in Conakry, Guinea, to determine the different options which are available when seeking treatment or care, and to ascertain the average delay in diagnosis of pulmonary tuberculosis and the main factors linked to the delay in diagnosis after the initial onset of symptoms. Through a cross-sectional study, 113 consecutive patients with smear-positive pulmonary tuberculosis were interviewed through the use of a questionnaire.

[Mitoxantrone as induction therapy in aggressive relapsing remitting multiple sclerosis: a descriptive analysis of 100 consecutive patients].

Introduction: On the basis of the French and British (FB) MS Trial, Mitoxantrone (MITOX) was approved by the AFSAPPS in October 2003 in patients with aggressive multiple sclerosis (MS), given as induction therapy monthly for 6 months (ELSEP). We report an observational study of 100 aggressive relapsing remitting (RR) MS patients treated by induction therapy with MITOX and followed up to 5 years.

Methods: One hundred patients with aggressive RR MS received an induction therapy with MITOX 20 mg monthly combined with methylprednisolone 1 g for 6 months.

Oligodendroglioma: clinical study and survival analysis correlated with chromosomal anomalies.

Object: Demonstration of the loss of chromosomes 1p and 19q in the presence of a brain neoplasm marks the emergence of genotype as a prognostic indicator. The authors report gene expression data for oligodendroglioma and correlate genotype with response to therapy. Gene expression subgroups may represent distinct types of disease.

[Clinical guidelines: what are the viewpoints of physicians and housestaff working in hospital medical departments?].

Background: Factors facilitating use of clinical guidelines by physicians working in French public hospitals are unknown. We wanted to ascertain the desires of physicians and housestaff working in medical departments.

Methods: A cross-sectional survey using a self-administered questionnaire with closed-ended questions and free comment was conducted in the two academic regional hospitals and the 20 district hospitals of Brittany.

[Consumption of hand-hygiene products in health establishments in the west of France].

Objectives: The study had for aim to investigate hand hygiene product use in French hospitals between 2000 and 2003.

Design: A questionnaire was sent in 2002 and 2 more in 2003 and 2004 (for 2000 to 2003) requiring data on type of hospital, number of beds, staff members, admissions and patient-day, litres of mild soap, antiseptic soap and alcohol-based rub used and price per litre. Indices were calculated accordingly.

[Treatment of heterotopic ossification by extracorporeal shock wave: 26 patients].

Objectives: To evaluate the effects of extracorporeal shockwave therapy (ESWT) on heterotopic ossification leading to functional limitations in the short and medium term.

Methods: Twenty-six patients with heterotopic ossification received sessions of ESTW (4000 shocks, 3/s), with an energy ranging from 0.54 to 1.

[Mortality rates in rural and urban areas of Brittany].

Relative differences in environment, behaviour, social composition as well as access to health care tend to suggest that levels of health may vary between urban and rural areas. The aim of this study was to identify rural-urban variations in mortality risks in the region of Brittany for the period from 1988 to 1992. The definition of urban and rural areas used adhered to that of the zoning of urban areas established by the INSEE (the National Statistical Office).

Surgery for aortic stenosis in octogenarians: influence of coronary disease and other comorbidities on hospital mortality.

Background And Aim Of The Study: Increasing life expectancy in industrialized countries and the high incidence of aortic stenosis (AS) in higher-age groups have led to wider indications for surgery in the elderly. The study aim was to re analyze operative risk factors, considering especially coronary status, for better patient selection and decreased risk.

Methods: Between 1978 and 2003, 771 patients (319 men, 452 women) aged > or =80 years (mean 82.

Health data management and strategic management in Brittany: some practical problems.

Recent changes in the organisation of the French health system include 1996's ordinances, and more recently (4th Law march 2002). The general tendency of all these reforms is the management of the health system at the regional level in France. In This paper we try to find how health data management systems could be concerned by this changes.

[Return to work after cardiac valvular surgery. Retrospective study of a series of 105 patients].

This was a retrospective study realised by a mailed questionnaire of the medical and socio-professional conditions of return to work in patients with valvular heart disease aged 20 to 59 and operated in the cardiac surgery department of Rennes University Hospital in 1998. The results concern 105 patients of whom 78 were working before surgery and 27 were unemployed, and 53 were professionally active after surgery. The average age was 48 +/- 9 years and the male/female ratio was 2.

Base deficit in immediate postoperative period of coronary surgery with cardiopulmonary bypass and length of stay in intensive care unit.

Objective: To assess the relationship between the base deficit value in the immediate postoperative period of coronary surgery for cardiopulmonary bypass and the length of stay in the ICU.

Design And Setting: Prospective descriptive study in the department of anesthesia and cardiovascular surgery of a university hospital.

Patients: 185 consecutive patients.

Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people.

Most features of C282Y-linked haemochromatosis support the implementation of population screening of the disorder in Caucasians. However, the penetrance of C282Y homozygosity is poorly documented and the strategy for population screening remains debated. Nine thousand three hundred and ninety-six subjects (3367 men, aged 25-40 years, and 6029 women, aged 35-50 years), attending three Health Appraisal Centres, were genotyped and assessed with respect to clinical and biochemical signs of haemochromatosis.

[The French and English health systems: compared evolution after the mid-1990s].

In the recent past, the British and French health care systems have both undergone significant reforms, enveloped in a state of Urgency, resulting primarily in France from the increasing rate of growth in health expenditure and in England from malfunctioning procedures such as waiting lists. After describing current features of the National Health Service (NHS), this study extracts and considers the points of convergence and divergence in the respective policies of the two countries: similarities in the choice of priorities, decentralisation of decision-making, negotiation between actors at the local level, development of the quality concept, and the differences in formulating objectives and involving the system's users. The considerations provided here should allow for a better understanding of the developments of these respective health policies and their future evolution.

[Evaluation of the immediate transfusion reaction incident reporting system at the Brest University Hospital Center].

The Haemovigilance Unit of Brest University Hospital has had a reporting system of transfusion reactions since october 1994. Reporting "any unexpected or undesirable effect due or likely to be due to the administering of blood cell components" must be done on an answering machine immediately or in the next eight hours. The main goal of the evaluation of this epidemiological surveillance system was to assess its sensitivity, its positive predictive value, its acceptability, its timeliness and its simplicity, according to the Centers for Disease Control criteria.