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101.
Dr. Dr. N. Adolphs H. Haberl L. Graul-Neumann H. Menneking B. Hoffmeister 《Der MKG-Chirurg》2013,6(1):36-39
The oculoauriculofrontonasal syndrome (OAFNS) is a rare craniofacial malformation which causes massive disturbance of physiological craniofacial development and can be associated with other malformations; however, cognitive development can be unaffected. It is characterized by vertical median facial clefting in combination with bilateral otomandibular dysplasia. Hypertelorism, orbital dystopia, mandibular and hearing deficiency are key features. The etiology remains uncertain and sporadic occurrence is likely. Interindividual variance in expression must be expected requiring highly individualized age and growth-related treatment concepts in order to achieve a less obtrusive appearance. 相似文献
102.
Antonio Nieto Ulrich Wahn Albrecht Bufe Philippe Eigenmann Susanne Halken Gunilla Hedlin Arne Høst Jonathan Hourihane Jocelyne Just Gideon Lack Susanne Lau Paolo Maria Matricardi Antonella Muraro Nikos Papadopoulos Graham Roberts Angela Simpson Erkka Valovirta Stephan Weidinger Magnus Wickman Angel Mazon 《Pediatric allergy and immunology》2014,25(6):516-533
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T. Henze W. Feneberg P. Flachenecker D. Seidel H. Albrecht M. Starck S. G. Meuth 《Der Nervenarzt》2017,88(12):1428-1434
The symptomatic treatment of multiple sclerosis (MS) nowadays is of similar importance as immunotherapy within a comprehensive concept of therapy of this chronic disease, since it contributes considerably to the reduction of disabilities in activities of daily living as well as social and occupational life. Moreover, symptomatic treatment is of great importance for amelioration of quality of life. Since our last survey of symptomatic MS treatment in 2004 and publication of the guidelines of the German Neurological Society and the Klinisches Kompetenznetz Multiple Sklerose (KKN?MS) in 2014 several developments within the topics of mobility, bladder and sexual function, vision, fatigue, cognition and rehabilitation took place. These new findings together with further aspects of disease measures and overall treatment strategies of the respective symptoms, as well as treatment goals are introduced in a series of six individual contributions. Here, the symptoms of gait disorders and spasticity will be discussed. 相似文献
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D. Opel O.N. Kramer M. Chevalier M. Bigby J. Albrecht 《The British journal of dermatology》2017,177(4):960-966
Monitoring of triglycerides for patients on isotretinoin is practised primarily to avoid hypertriglyceridaemia‐associated pancreatitis. The aim of this study was to describe clinically the published cases of hypertriglyceride‐associated pancreatitis. A comprehensive search strategy using MEDLINE, Embase and grey literature was conducted (1960 to January 2016) to identify all case reports of isotretinoin‐associated pancreatitis and all relevant studies of isotretinoin and triglycerides for any indication (≥ 20 patients). Terms related to isotretinoin, triglycerides and pancreatitis were searched with all available synonyms. Any studies that used isotretinoin and mentioned triglycerides or pancreatitis were searched in full text, where available, for cases of pancreatitis. Studies from all countries and published in any language were included, but Korean and Turkish studies could not be analysed. Two authors independently reviewed the publications to determine eligibility, and for data extraction. In total, 125 papers fulfilled the inclusion criteria and were searched for cases of pancreatitis. Eleven papers with 25 cases of pancreatitis associated with isotretinoin were identified; four of these cases were likely due to hypertriglyceridaemia. Three patients had elevated baseline triglycerides, but no monitoring. Pancreatitis occurred 6 and 7 weeks, and 6 months after initiation of therapy. For the fourth patient who was treated for glioblastoma and died, no detailed clinical information was available. Idiosyncratic pancreatitis associated with isotretinoin is the most frequent pancreatitis on isotretinoin, and patients should be warned about it. Hypertriglyceride‐associated pancreatitis is an exceedingly rare adverse event of isotretinoin therapy. Our data cannot give a frequency or risk for either adverse event. Based on the clinical information of the patients available, we conclude that for patients without elevated baseline triglycerides, or risk thereof, monitoring of triglycerides during therapy is of little value. 相似文献
110.
Nicole A. Najor Lauren Albrecht Natalia Malchin Tomer Goldsmith Meital Grafi‐Cohen Dan Vodo Gilad Fainberg Benjamin Meilik Ilan Goldberg Emily Warshauer Tova Rogers Sarah Edie Akemi Ishida‐Yamamoto Lisa Burzenski Noam Erez Steve A. Murray Alan D. Irvine Lenny Shultz Kathleen J. Green Jouni Uitto Eli Sprecher Ofer Sarig 《Experimental dermatology》2017,26(5):423-430
SVEP1 is a recently identified multidomain cell adhesion protein, homologous to the mouse polydom protein, which has been shown to mediate cell‐cell adhesion in an integrin‐dependent manner in osteogenic cells. In this study, we characterized SVEP1 function in the epidermis. SVEP1 was found by qRT‐PCR to be ubiquitously expressed in human tissues, including the skin. Confocal microscopy revealed that SVEP1 is normally mostly expressed in the cytoplasm of basal and suprabasal epidermal cells. Downregulation of SVEP1 expression in primary keratinocytes resulted in decreased expression of major epidermal differentiation markers. Similarly, SVEP1 downregulation was associated with disturbed differentiation and marked epidermal acanthosis in three‐dimensional skin equivalents. In contrast, the dispase assay failed to demonstrate significant differences in adhesion between keratinocytes expressing normal vs low levels of SVEP1. Homozygous Svep1 knockout mice were embryonic lethal. Thus, to assess the importance of SVEP1 for normal skin homoeostasis in vivo, we downregulated SVEP1 in zebrafish embryos with a Svep1‐specific splice morpholino. Scanning electron microscopy revealed a rugged epidermis with perturbed microridge formation in the centre of the keratinocytes of morphant larvae. Transmission electron microscopy analysis demonstrated abnormal epidermal cell‐cell adhesion with disadhesion between cells in Svep1‐deficient morphant larvae compared to controls. In summary, our results indicate that SVEP1 plays a critical role during epidermal differentiation. 相似文献