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Clamart, France

The aim of this review is to provide answers to the question " How does one screen for and diagnose gestational diabetes mellitus (GDM) between 24 and 28 weeks gestation?" Two methods are currently widely used: a one-step approach (the 75g-Oral Glucose Tolerance Test, OGTT) and a two-step approach (the 50g Glucose Challenge Test, GCT, followed by 100g-OGTT). A review of the literature showed that both methods had good reproducibility (around 80%), whilst neither required preliminary diet changes. The data of the Hyperglycaemia Adverse Pregnancy Outcomes (HAPO) study on materno-foetal morbidity provided consistent support in favour of the 75g-OGTT. In addition, this one-step method presents several advantages over the two-step method, i.e. it provides a faster diagnosis time, better tolerance and it is easier to remember. We thus recommend a 75g-OGTT including three measures of the glycaemia at times 0, 1 and 2 hours for the diagnosis of GDM between 24-28 weeks of pregnancy. A discussion of alternative methods revealed that measuring Fasting Glycaemia (FG) between 24 and 28 weeks of pregnancy was unsuitable, and that measuring HbA1c, fructosamine, glycosuria, or random and postprandial plasma glucose was not advisable. This is based on the fact that too few studies have evaluated these methods, and that the studies usually involved heterogeneous populations in varying numbers, using differing criteria and sensitivity values. However, HbA1c measurements may prove useful in detecting pre-pregnancy diabetes mellitus.

Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cell. Defects in various proteins involved in linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skeleton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. The disease severity is primarily dependent on the extent of membrane surface area loss. Both these diseases can be readily diagnosed by various laboratory approaches that include red blood cell cytology, flow cytometry, ektacytometry, electrophoresis of the red cell membrane proteins, and mutational analysis of gene encoding red cell membrane proteins. Copyright © 2013 Elsevier Ltd. All rights reserved.

Low bone mineral density (BMD) is common in HIV-infected patients. Bisphosphonates such as alendronate potently inhibit bone resorption and are effective against osteoporosis. The aim of the ANRS 120 Fosivir trial was to evaluate the effect of alendronate on low BMD in HIV-infected patients. HIV-1-infected adults with a t-score≤-2.5 at the lumbar spine and/or total hip, as assessed by dual x-ray absorptiometry, and no other known risk factors for low BMD, were randomized to receive either extended-release alendronate 70 mg weekly or placebo for 96 weeks, with stratification for gender. All the patients also received daily calcium carbonate (500 mg) and vitamin D (400 U). The primary endpoint for efficacy was the percentage change in BMD at the site with a t-score≤-2.5. Forty-four antiretroviral-treated patients (42 men, 2 women) were enrolled. The median age was 45 years, the median CD4 cell count was 422/mm(3), and viral load was <400 copies/ml in 84% of patients. Baseline characteristics were well balanced between the alendronate (n=20) and placebo (n=24) groups. At baseline, 15 patients (75%) in the alendronate group and 17 patients (71%) in the placebo group had a t-score≤-2.5 at the lumbar spine. In the main analysis, BMD at the site with a t-score≤-2.5 increased by 7.1% and 1.0%, respectively, in the alendronate (n=14) and placebo (n=20) groups at week 96 [mean difference, 6.1% (95% CI 2.8 to 9.3); p=0.0003]. Alendronate 70 mg weekly for 96 weeks improves BMD in HIV-1-infected patients on antiretroviral therapy.

BACKGROUND:: In neurofibromatosis type 2 (NF2), multiple therapeutic options are available to prevent bilateral hearing loss that significantly affects the quality of life of patients. OBJECTIVE:: To evaluate the morbidity and functional results of internal auditory canal (IAC) decompression in NF2 patients with an only hearing ear. METHODS:: Twenty-one NF2 patients operated on for IAC decompression in a 3-year period with a minimum follow-up of 1 year were included in this retrospective study. They presented unilateral deafness due to previous contralateral vestibular schwannoma removal in 16 patients or contralateral hearing loss due to the tumor in 5 patients. Hearing level was of class A (American Academy of Otolaryngology–Head and Neck Surgery classification) in 7 patients, B in 8 patients, C in 1 patient, and D in 5 patients. Pure-tone average and speech discrimination score evaluations were performed at 6 days, 1 year, and during the follow-up. Eight patients had postoperative chemotherapy. RESULTS:: No case of facial nerve palsy was observed. In the early postoperative period; all patients maintained the hearing class of the preoperative period. At 1-year follow-up, all but 3 patients maintained their hearing scores; at last follow-up (mean follow-up, 23 ± 8 months; range, 12-44 months), hearing classes remained stable with only 1 patient worsening from class B to C and 1 patient improving from class D to B. CONCLUSION:: Decompression of IAC seems to be a useful procedure for hearing maintenance in NF2 patients, with very low morbidity. Ideal timing and association with chemotherapy should be evaluated in the future. ABBREVIATIONS:: FN, facial nerveIAC, internal auditory canalNF2, neurofibromatosis type 2PTA, pure tone averageSDS, speech discrimination scoreVS, vestibular schwannoma Copyright © by the Congress of Neurological Surgeons

Azoulay E.,AP HP | Azoulay E.,University Paris Diderot
European Journal of Internal Medicine | Year: 2013

Background: Knowledge about the clinical features, outcomes and predictors of short-term mortality in critically ill patients with systemic rheumatic disease (SRD) requires further characterization. Methods: Single center retrospective observational cohort study of 149 critically ill patients with SRD followed in a French medical intensive care unit over a 20-year period. Multivariate logistic regression was used to identify predictors of day-30 mortality. Results: Most patients (63%) had systemic lupus erythematosus, rheumatoid arthritis, or systemic sclerosis. The critical illness usually developed late after the diagnosis of SRD (median time to ICU admission 82 months, IQR [9-175] in the 127 patients with a previous diagnosis of SRD). Two-thirds of patients were taking immunosuppressive drugs to treat their SRD. Reasons for ICU admission were infection (47%), SRD exacerbation (48%), and iatrogenic complications (11%); the most common organ failure was acute renal failure. Thirty-day mortality was 16%. Predictors of 30-day mortality were the LODS score on day 1 (OR 1.3 (1.06-1.48)), bacterial pneumonia (OR 3.8 (1.03-14.25)), need for vasoactive drugs (OR 7.1 (1.83-27.68)), SRD exacerbation (OR 4.3 (1.15-16.53)), and dermatomyositis (OR 9.2 (1.05-80.78)) as the underlying disease. Year of ICU admission was not significantly associated with 30-day survival. Conclusion: Patients with SRD are mostly admitted in the ICU with infection or SRD exacerbation, and can be treated with immunosuppressive therapy and life-sustaining interventions with acceptable 30-day mortality. Death is associated with both the severity of the acute medical condition and the characteristics of the underlying SRD. © 2012 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

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