Audrey Muller

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BACKGROUND Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical(More)
OBJECTIVE To assess the value of sperm DNA fragmentation, measured by the sperm chromatin dispersion (SCD) test, in predicting fertilization rate, embryo quality, and pregnancy outcome. DESIGN Prospective study. SETTING Four French infertility centers, from January to August 2005. PATIENT(S) Six hundred twenty-two couples participating in their first(More)
Testicular cancer (TC) risk factors remain largely unknown, except for personal history of cryptorchidism and familial history of TC. We conducted a hospital-based case-control study on familial, environmental and occupational conditions in which we compared 229 cases and 800 controls. TC was correlated with cryptorchidism (OR = 3.02; CI: 1.90-4.79), a(More)
Niemann-Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene. This observational, multicentre genetic screening study evaluated the frequency and phenotypes of NP-C in consecutive adult patients with neurological and psychiatric symptoms.(More)
BACKGROUND Although conventional peritoneal dialysis fluids (PDFs), such as Dianeal, are non-physiological in composition, new PDFs including Physioneal have a more neutral pH, are at least partially buffered with bicarbonate and, most importantly, contain low concentrations of glucose degradation products (GDPs). METHODS To evaluate the impact of new(More)
We evaluated clinical and safety outcomes in adult patients with type 1 Gaucher disease receiving miglustat in clinical practice settings. An observational, retrospective cohort study was conducted in centers across the EU and the USA. Medical chart data were collected from consecutive patients between the 20th November 2002 and 31st December 2008. A total(More)
OBJECTIVE Testis cancer is the most common cancer in young men, and its incidence continues to rise. Even if prognosis is considered as good, a group with bad prognosis still remains. Diagnostic delay (DD), defined as the time elapsing from the onset of tumour symptoms to the day of diagnosis, is a way to evaluate the rapidity of diagnosis. We assessed the(More)
In recent decades, testicular cancer incidence has considerably increased in a majority of industrialized countries. In France, short reports suggested that the testicular cancer incidence rate has also risen, especially in north-eastern regions. In Europe, geographical variation of incidence rates has been observed in Baltic countries and a clear birth(More)
INTRODUCTION Interstitial lung diseases (ILDs) form a heterogeneous group of diseases with varying degrees of inflammation and fibrosis. Epidemiological data based on the current diagnostic criteria are sparse. OBJECTIVES To characterize the incidence rate of ILDs and idiopathic pulmonary fibrosis (IPF) in Danish patients diagnosed at a referral hospital,(More)
BACKGROUND Following approval in the EU in 2002 and the USA in 2003, an Intensive Safety Surveillance Scheme (IS(3) ) was initiated to educate prescribers on the appropriate use of miglustat for the treatment of type I Gaucher disease (GD1), and to actively solicit safety-relevant information. This report summarises data from all patients enrolled in IS(3)(More)