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Michael Frank
French Institute of Health and Medical Research
EndocrinologyCardiologyEhlers–Danlos syndromeMedicineBlood pressure
37Publications
13H-index
556Citations
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Publications 36
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#2Salma Adham (Paris V: Paris Descartes University)H-Index: 1
Last. Xavier Jeunemaitre (Paris V: Paris Descartes University)H-Index: 69
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Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited disorder leading to arterial, digestive, and uterine complications due to pathogenic COL3A1 variants. Identification of causal variants allows family screening, provided that relatives have previously been informed, according to a 2013 French Decree. The aims of our study were to assess the communication of genetic information to at-risk relatives, the impact of diagnosis disclosure and to highlight a possible link between the experience...
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#1Michael FrankH-Index: 13
Last. Xavier JeunemaitreH-Index: 69
view all 6 authors...
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#1Anne Legrand (Paris V: Paris Descartes University)H-Index: 2
#2Magali DevrieseH-Index: 1
Last. Xavier Jeunemaitre (Paris V: Paris Descartes University)H-Index: 3
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Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental mosaicism, but its frequency is unknown. This retrospective study included a large series of COL3A1-confirmed vEDS probands with family information. The frequency of de novo cases was evaluated and the distribution of the type of variants was compared according to the mode of inherit...
1 CitationsSource
#1Michael Frank (French Institute of Health and Medical Research)H-Index: 13
#2Salma Adham (Paris V: Paris Descartes University)H-Index: 1
Last. Xavier Jeunemaitre (Paris V: Paris Descartes University)H-Index: 69
view all 4 authors...
1 CitationsSource
#1Michael Frank (French Institute of Health and Medical Research)H-Index: 13
#2Salma Adham (Paris IV: Paris-Sorbonne University)H-Index: 1
Last. Xavier JeunemaitreH-Index: 69
view all 13 authors...
Abstract Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder secondary to pathogenic variants within the COL3A1 gene, resulting in exceptional arterial and organ fragility and premature death. The only published clinical trial to date demonstrated the benefit of celiprolol on arterial morbimortality. Objectives The authors herein describe the outcomes of a large cohort of vEDS patients followed ≤17 years in a single national referral center. Methods All...
2 CitationsSource
#1Pierrick HennetonH-Index: 1
#2Juliette Albuisson (Paris V: Paris Descartes University)H-Index: 11
Last. Michael Frank (Paris V: Paris Descartes University)H-Index: 13
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Background: Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vascular Ehlers-Danlos syndrome is challenging, and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated. Methods: All patients seen at a dedicated tertiary referral center for a suspicion of vascular Ehlers-Danlos syndrome between January 2001 and March 2016 were retrospectively included in a dia...
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#1Rosa Maria Bruno (UniPi: University of Pisa)H-Index: 22
#2Louise Marais (French Institute of Health and Medical Research)H-Index: 2
Last. Michel Azizi (Paris V: Paris Descartes University)H-Index: 41
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Arterial fibromuscular dysplasia is a nonatherosclerotic, noninflammatory vascular disease, whose pathophysiology is still unknown. We performed deep image-based vascular phenotyping of nonaffected arteries to look for systemic vascular alterations in fibromuscular dysplasia. This single center cross-sectional study included 50 patients with multifocal renal fibromuscular dysplasia, 50 hypertensive patients, and 50 healthy controls, matched for age, sex, and ethnicity; hypertensive patients were...
1 CitationsSource
#1Pierrick HennetonH-Index: 1
#2Anne LegrandH-Index: 2
Last. Michael FrankH-Index: 13
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Pathogenic variants in the lysyl-hydroxylase-1 gene (PLOD1) are responsible for the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). The disease is classically responsible for severe hypotonia at birth, progressive kyphoscoliosis, generalised joint hypermobility and scleral fragility. Arterial fragility is an important feature of the disease, but its characterisation remains limited. We report the clinical history of a 41-year-old woman who presented repeated arterial accidents, which occurr...
1 CitationsSource
#1Salma Adham (Paris V: Paris Descartes University)H-Index: 1
#2Denis Trystram (Sorbonne)H-Index: 2
Last. Michael Frank (French Institute of Health and Medical Research)H-Index: 13
view all 7 authors...
Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted this study to understand the possible mechanisms of occurrence of sCCF in this subset of patients. We conducted a retrospective analysis of a monocentric vEDS cohort along with a literature review regarding sCCF in this condition. Of 133 patients regularly followed in our centre between 2000 ...
2 CitationsSource
Resume Introduction Le syndrome de Gardner-Diamond correspond a une autosensibilisation des patients a leurs propres hematies. Il touche tres majoritairement les femmes et se traduit par l’apparition d’ecchymoses douloureuses. Une comorbidite psychiatrique associee ou l’existence d’un facteur psychologique declenchant constituent un argument diagnostique majeur. Observation Nous decrivons l’histoire d’un homme de 24 ans qui presentait des ecchymoses douloureuses spontanees evoluant par poussees ...
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