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21.
Piérard-Franchimont C Goffin V Arrese JE Martalo O Braham C Slachmuylders P Piérard GE 《Skin pharmacology and applied skin physiology》2002,15(2):112-119
BACKGROUND: Some antibiotics represent a mainstay in acne treatment. However, studies comparing their efficacies are rare. AIM: To evaluate the clinical and in vivo antibacterial effect of lymecycline and minocycline at different dosages. METHOD: Eighty-six patients with moderate to severe acne were enrolled in a randomized, double-blind, intent-to-treat study comparing in three parallel groups the effect of (1) lymecycline 300 mg daily for 12 weeks, (2) minocycline 50 mg daily for 12 weeks and (3) minocycline 100 mg daily for 4 weeks followed by 50 mg daily for 8 weeks. Evaluations were made at the screening visit and at five on-treatment visits. They consisted of clinical counts of acne lesions and evaluations of bacterial viability using dual flow cytometry performed on microorganisms collected from sebaceous infundibula by cyanoacrylate strippings. RESULTS: Patients receiving minocycline 100/50 mg had the best clinical outcome, particularly in the reduction of the number of papules. By the end of the trial, the microbial response to minocycline 100/ 50 mg was also superior to either of the other two treatments. There were less live and more dead bacteria. CONCLUSION: In this trial, minocycline 100/50 mg was superior for the treatment of inflammatory acne when compared to lymecycline 300 mg and minocycline 50 mg. 相似文献
22.
Boisseau-Garsaud AM Desbois N Guillermin ML Ossondo M Gueho E Cales-Quist D 《Dermatology (Basel, Switzerland)》2002,204(2):150-152
BACKGROUND: Exophiala jeanselmei is a dematiaceous fungus that may cause invasive diseases, particularly among immunocompromised hosts. Most reports mention cutaneous or subcutaneous lesions, but no case of nail involvement due to this fungus has been reported until now. CASE REPORT: A 60-year-old man presented with hyperkeratosis and black coloration of the nails of the two thumbs and the two big toes of 4 years' duration. He was a renal transplant recipient and had been treated with prednisone and azathioprine. E. jeanselmei was present on direct examination, then isolated in cultures on repeated samplings from all pathologic nails. He was cured after 6 months of treatment with itraconazole. COMMENTARY: We describe the first case of nail infection due to E. jeanselmei. Itraconazole, which provides a broad spectrum of action on fungal species and achieves high levels of active substance in many tissues, including the nails, appeared to be efficient upon such a nail localization of E. jeanselmei. 相似文献
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24.
Depienne C Trouillard O Bouteiller D Gourfinkel-An I Poirier K Rivier F Berquin P Nabbout R Chaigne D Steschenko D Gautier A Hoffman-Zacharska D Lannuzel A Lackmy-Port-Lis M Maurey H Dusser A Bru M Gilbert-Dussardier B Roubertie A Kaminska A Whalen S Mignot C Baulac S Lesca G Arzimanoglou A LeGuern E 《Human mutation》2011,32(1):E1959-E1975
Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated with PCDH19, we screened 150 unrelated patients (113 females) with febrile and afebrile seizures for mutations or rearrangements in the gene. Fifteen novel point mutations were identified in 15 female patients (6 sporadic and 9 familial cases). In addition, qPCR revealed two whole gene deletions and one partial deletion in 3 sporadic female patients. Clinical features were highly variable but included almost constantly a high sensitivity to fever and clusters of brief seizures. Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of Generalized Epilepsy with Febrile Seizures Plus (GEFS+) whereas all three affected females had partial cryptogenic epilepsy. These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. 相似文献
25.
Oriane Hanssen Laurent Weekers Pierre Lovinfosse Alexandre Jadoul Catherine Bonvoisin Antoine Bouquegneau Stphanie Grosch Alexandre Huynen Dany Anglicheau Roland Hustinx Francois Jouret 《American journal of transplantation》2020,20(5):1402-1409
Subclinical kidney allograft acute rejection (SCR) corresponds to “the unexpected histological evidence of acute rejection in a stable patient.” SCR detection relies on surveillance biopsy. Noninvasive approaches may help avoid biopsy‐associated complications. From November 2015 to January 2018, we prospectively performed positron emission tomography/computed tomography (PET/CT) after injection of F18‐fluorodeoxyglucose (18F‐FDG) in adult kidney transplant recipients with surveillance biopsy at ~3 months posttransplantation. The Banff‐2017 classification was used. The ratio of the mean standard uptake value (mSUVR) between kidney cortex and psoas muscle was measured. Urinary levels of CXCL‐9 were concomitantly quantified. Our 92‐patient cohort was categorized upon histology: normal (n = 70), borderline (n = 16), and SCR (n = 6). No clinical or biological difference was observed between groups. The mSUVR reached 1.87 ± 0.55, 1.94 ± 0.35, and 2.41 ± 0.54 in normal, borderline, and SCR groups, respectively. A significant difference in mSUVR was found among groups. Furthermore, mSUVR was significantly higher in the SCR vs normal group. The area under the receiver operating characteristic curve (AUC) was 0.79, with 83% sensitivity using an mSUVR threshold of 2.4. The AUC of urinary CXCL‐9/creatinine ratios comparatively reached 0.79. The mSUVR positively correlated with ti and acute composite Banff scores. 18F‐FDG‐PET/CT helps noninvasively exclude SCR, with a negative predictive value of 98%. External validations are required. 相似文献
26.
Yann Guillermin Charles Herbaux Fabien Subtil Thérèse Aurran‐Schleinitz Florence Cymbalista Remi Letestu Stéphane Leprêtre Sandrine Vaudaux Kamel Laribi Véronique Leblond Yasmina Defoi Raouf Benchikh Gilles Salles Pascal Godmer Henry Jardel Fréderic Vallais Pierre Feugier Frédérique Orsini Brigitte Pegourié Vincent Lévy Anne‐Sophie Michallet 《American journal of hematology》2018,93(1):E24-E27
27.
Sarah Kendroud Ali A. Bohra Philipp A. Kuert Bao Nguyen Oriane Guillermin Simon G. Sprecher Heinrich Reichert Krishnaswamy VijayRaghavan Volker Hartenstein 《The Journal of comparative neurology》2018,526(1):33-58
The subesophageal zone (SEZ) of the Drosophila brain processes mechanosensory and gustatory sensory input from sensilla located on the head, mouth cavity and trunk. Motor output from the SEZ directly controls the movements involved in feeding behavior. In an accompanying paper (Hartenstein et al., 2017 ), we analyzed the systems of fiber tracts and secondary lineages to establish reliable criteria for defining boundaries between the four neuromeres of the SEZ, as well as discrete longitudinal neuropil domains within each SEZ neuromere. Here we use this anatomical framework to systematically map the sensory projections entering the SEZ throughout development. Our findings show continuity between larval and adult sensory neuropils. Gustatory axons from internal and external taste sensilla of the larva and adult form two closely related sensory projections, (a) the anterior central sensory center located deep in the ventromedial neuropil of the tritocerebrum and mandibular neuromere, and (b) the anterior ventral sensory center (AVSC), occupying a superficial layer within the ventromedial tritocerebrum. Additional, presumed mechanosensory terminal axons entering via the labial nerve define the ventromedial sensory center (VMSC) in the maxilla and labium. Mechanosensory afferents of the massive array of chordotonal organs (Johnston's organ) of the adult antenna project into the centrolateral neuropil column of the anterior SEZ, creating the antenno‐mechanosensory and motor center (AMMC). Dendritic projections of dye back‐filled motor neurons extend throughout a ventral layer of the SEZ, overlapping widely with the AVSC and VMSC. Our findings elucidate fundamental structural aspects of the developing sensory systems in Drosophila. 相似文献
28.
Oriane Marmontel Pierre Antoine Rollat-Farnier Anne-Sophie Wozny Sybil Charrière Xavier Vanhoye Thomas Simonet Nicolas Chatron Delphine Collin-Chavagnac Séverine Nony Sabrina Dumont Muriel Mahl Chantal Jacobs Alexandre Janin Cyrielle Caussy Pierre Poinsot Igor Tauveron Claire Bardel Gilles Millat Noël Peretti Philippe Moulin Christophe Marçais Mathilde Di Filippo 《Clinical genetics》2020,98(6):589-594
The aim of this study was to provide an efficient tool: reliable, able to increase the molecular diagnosis performance, to facilitate the detection of copy number variants (CNV), to assess genetic risk scores (wGRS) and to offer the opportunity to explore candidate genes. Custom SeqCap EZ libraries, NextSeq500 sequencing and a homemade pipeline enable the analysis of 311 dyslipidemia-related genes. In the training group (48 DNA from patients with a well-established molecular diagnosis), this next-generation sequencing (NGS) workflow showed an analytical sensitivity >99% (n = 532 variants) without any false negative including a partial deletion of one exon. In the prospective group, from 25 DNA from patients without prior molecular analyses, 18 rare variants were identified in the first intention panel genes, allowing the diagnosis of monogenic dyslipidemia in 11 patients. In six other patients, the analysis of minor genes and wGRS determination provided a hypothesis to explain the dyslipidemia. Remaining data from the whole NGS workflow identified four patients with potentially deleterious variants. This NGS process gives a major opportunity to accede to an enhanced understanding of the genetic of dyslipidemia by simultaneous assessment of multiple genetic determinants. 相似文献
29.
Ashley P. L. Marsh Timothy J. Edwards Charles Galea Helen M. Cooper Elizabeth C. Engle Saumya S. Jamuar Aurélie Méneret Marie‐Laure Moutard Caroline Nava Agnès Rastetter Gail Robinson Guy Rouleau Emmanuel Roze Megan Spencer‐Smith Oriane Trouillard Thierry Billette de Villemeur Christopher A. Walsh Timothy W. Yu Delphine Heron Elliott H. Sherr Linda J. Richards Christel Depienne Richard J. Leventer Paul J. Lockhart 《Human mutation》2018,39(1):23-39
The deleted in colorectal cancer (DCC) gene encodes the netrin‐1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss‐of‐function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss‐of‐function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss‐of‐function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype–phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus‐specific LOVD ( https://databases.lovd.nl/shared/genes/DCC ). 相似文献
30.