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1.
Rev Med Interne ; 42(10): 714-721, 2021 Oct.
Article in French | MEDLINE | ID: mdl-33836894

ABSTRACT

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. These proteins form a complex that constitutively inhibits the mammalian target of rapamycin (mTOR) signaling pathway, leading to permanent activation of mTOR signaling within all TSC-associated lesions. Major features of TSC include tumors of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. These disorders are usually diagnosed in children and adults. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Several randomized controlled trials led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas, refractory epilepsy and pulmonary lymphangioleiomyomatosis.


Subject(s)
Autism Spectrum Disorder , Lymphangioleiomyomatosis , Tuberous Sclerosis , Humans , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/epidemiology , Tuberous Sclerosis Complex 2 Protein/genetics , Tumor Suppressor Proteins/genetics
2.
Rev Med Interne ; 38(10): 656-662, 2017 Oct.
Article in French | MEDLINE | ID: mdl-28690094

ABSTRACT

INTRODUCTION: During year 2013, 5943 tests for antineutrophil cytoplasmic antibodies (ANCA) detection were performed in Bordeaux hospital, France. This seemed disproportionate, with regard to the low prevalence of ANCA-associated vasculitis (AAV). Our purpose was to evaluate the relevance of these requests. METHODS: Requests for detection of ANCA during 2013 were recorded, with their results. A sample of 501 requests was secondarily established. Relevance of requests was assessed independently by two reviewers. During year 2014, we developed strategies of information, in order to reduce the number of requests and increase their relevance. RESULTS: Only 17.8 % of the 5943 requests for detection of ANCA resulted in a positive test using indirect immunofluorescence (including 10.6 % of the requests with titles above 1/50). Using Luminex©, 9.7 % of the test of detection against antimyeloperoxidase or antiproteinase 3 antibodies were positive. Within the sample of 501 patients, only 28.7 % of the requests were relevant. A percentage of 40.2 of them weren't justified by a clinical affection typically associated with AAV. Exactly 15.9 of the requests were performed during systematic autoimmune screening. None of these requests could lead to the diagnosis of AAV. Combination of information procedures and use of a request form enabled a 19 % decrease of the number of requests. The percentage of requests without clinical justification also reduced from 40.2 % to 17.1 %. The reduction of the number of requests led to a 46,865 € saving. CONCLUSION: The majority of the requests for detection of ANCA was not relevant and could not lead to the diagnosis of AAV. Simple solutions enabled a partial but significant improvement of their relevance.


Subject(s)
Antibodies, Antineutrophil Cytoplasmic/analysis , Serologic Tests/methods , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/blood , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/diagnosis , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/economics , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/epidemiology , Antibodies, Antineutrophil Cytoplasmic/blood , Cost-Benefit Analysis , False Positive Reactions , Fluorescent Antibody Technique, Indirect/economics , Fluorescent Antibody Technique, Indirect/statistics & numerical data , France/epidemiology , Hospitals, University/statistics & numerical data , Humans , Intestinal Diseases/blood , Intestinal Diseases/diagnosis , Intestinal Diseases/epidemiology , Intestinal Diseases/etiology , Predictive Value of Tests , Retrospective Studies , Serologic Tests/economics , Serologic Tests/statistics & numerical data
3.
Diabetes Metab ; 37(5): 359-66, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21680218

ABSTRACT

Diabetes is the leading cause of chronic kidney disease (CKD), which makes estimation of renal function crucial. Serum creatinine is not an ideal marker of glomerular filtration rate (GFR), which also depends on digestive absorption, and the production of creatinine in muscle and its tubular secretion. Formulas have been devised to estimate GFR from serum creatinine but, given the wide range of GFR, proteinuria, body mass index and specific influence of glycaemia on GFR, the uncertainty of these estimations is a particular concern for patients with diabetes. The most popular recommended formulas are the simple Cockcroft-Gault equation, which is inaccurate and biased, as it calculates clearance of creatinine in proportion to body weight, and the MDRD equation, which is more accurate, but systematically underestimates normal and high GFR, being established by a statistical analysis of results from renal-insufficient patients. This underestimation explains why the MDRD equation is repeatedly found to give a poor estimation of GFR in patients with recently diagnosed diabetes and is a poor tool for reflecting GFR decline when started from normal, as well as the source of unexpected results when applied to epidemiological studies with a 60mL/min/1.73m(2) threshold as the definition of CKD. The more recent creatinine-based formula, the Mayo Clinic Quadratic (MCQ) equation, and the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) improve such underestimation, as both were derived from populations that included subjects with normal renal function. Determination of cystatin C is also promising, but needs standardisation.


Subject(s)
Diabetic Nephropathies/diagnosis , Diabetic Nephropathies/physiopathology , Kidney Function Tests/methods , Models, Biological , Biomarkers/metabolism , Diabetic Nephropathies/metabolism , Humans
4.
Arch Pediatr ; 18(5): 522-8, 2011 May.
Article in French | MEDLINE | ID: mdl-21458969

ABSTRACT

AIMS: To estimate the incidence and describe the clinical presentation and outcome (steroid responsiveness, clinical course, complications) of idiopathic nephrotic syndrome in children in a population-based retrospective study. METHODS: Using local registries and the hospital discharge diagnosis system from two centers, all new cases of idiopathic nephrotic syndrome were identified in Gironde (France) between January 1992 and May 2008. To estimate incidence, population-based denominators were obtained from the National Institute for Statistics and Economic Studies (INSEE). Clinical data were collected from medical charts. RESULTS: Ninety-nine cases of idiopathic nephrotic syndrome were reported (66 boys, 18 non-Caucasians) with an incidence of 2.3/100,000 (CI, 1.8-3.0) children less than 15 years. Ninety patients (91%) had steroid-sensitive nephrotic syndrome (SSNS) and nine (9%) were steroid-resistant (SRNS). The median time to remission in SSNS was 11 days. Relapses occurred in 75 (83%) children with SSNS with a median of four relapses (range, 1-32). The cumulative relapse-free incidence was 60% at 10 years after diagnosis in SSNS and 13% of patients aged 18 years old or over still had active disease. In SSNS, the only significant factor associated with steroid dependency or use of non steroid drugs was the time to initial response to steroids greater than 14 days. Nineteen children (19%) experienced severe complications of nephrotic syndrome including 11 bacterial infections and two thromboembolic complications. Two children with SRNS, of whom one was initially steroid-responsive, developed end-stage renal failure. CONCLUSION: The incidence and outcome of idiopathic nephrotic syndrome in Gironde are comparable to the rates found in other studies. The disease may have a long course and the time for response to steroids at disease onset is the main predictor of steroid dependency and of use of non steroid agents.


Subject(s)
Nephrotic Syndrome , Adolescent , Child , Child, Preschool , Female , France/epidemiology , Humans , Incidence , Infant , Male , Nephrotic Syndrome/complications , Nephrotic Syndrome/diagnosis , Nephrotic Syndrome/epidemiology , Nephrotic Syndrome/therapy , Prevalence , Prognosis , Recurrence , Retrospective Studies
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