Louis Pfeiffer

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The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation,(More)
Bei einer 35-jährigen IV-Gravida, II.Para wurde nach Einleitung der Geburt eine Notsectio wegen fetaler Bradykardie erforderlich. Intraoperative Komplikationen in Form von Uterusatonie, disseminierter intravasaler Gerinnung (DIC),schwerer Blutung und Schock wurden mittels Massivtransfusion, Hysterektomie (einschließlich packing des kleinen Beckens) und(More)
Huntington's disease (HD) is a neurodegenerative disorder for which no causal therapy is currently available. It is inherited as an autosomal dominant trait and the responsible gene was localized 10 years ago to chromosome 4. Recently the gene has been identified. This discovery now allows a definitive diagnosis to be made in most cases. Preclinical(More)
BACKGROUND Both the effect of the mutation and the pathogenesis of Huntington's disease are unknown and a lack of biological markers for the natural history of the disease impedes the evaluation of novel therapeutic approaches. METHODS Proton magnetic resonance spectroscopy was carried out on a frontal region of the cortex in 17 patients with clinically(More)
Prognosis and outcome of polytraumatized patients are determined by the possible development of multiple organ failure (MOF). Among the direct traumatic organ damage, it is caused by a systemic inflammatory reaction. This might be triggered by an activation of the inflammatory mediator cascade following hemorrhagic-traumatic shock as well as by(More)
A 35-years old gravida IV and para II underwent caesarean section because of fetal distress following induction of labour. During operation the patient developed disseminated intravascular coagulation (DIC), severe haemorrhage and shock necessitating massive blood transfusion,hysterectomy with pelvic packing, and high-dose catecholamines. Ultimately,(More)
We describe the possible difficulties in getting the diagnosis "ataxia telangiectasia" using the example of a 16 years old girl. If cases of cerebellar ataxia in childhood present without classical symptoms, the diagnosis of ataxia telangiectasia should not be excluded before chromosome analysis. In our case, first signs of cerebellar ataxia were observed(More)
Serum concentrations of alpha 1-fetoprotein (AFP) during PUVA treatment have been analyzed in 12 patients suffering from severe psoriasis or psoriatic arthritis. The results have been compared with AFP levels in psoriatics without PUVA treatment (group II), patients with psoriatic arthritis treated with methotrexate (group III), as well as dermatological(More)
Despite successful management of early complications in polytraumatized patients and obvious reduction of early death, lethality in the late course of the disease--frequently as a result of multiple organ failure (MOF)--remains generally unaffected. Concerning the pathogenesis of sepsis and MOF, there is some evidence that a central role is played by(More)
Genetic Loci Associated With Nonobstructive Coronary Artery Disease in 1 Caucasian Women 2 3 Liming Weng, Kent D. Taylor, Yii-Der Ida Chen, George Sopko, Sheryl F. Kelsey, C. 4 Noel Bairey Merz, Carl J. Pepine, Virginia M. Miller, Jerome I. Rotter, Martha Gulati, 5 Mark O. Goodarzi, and Rhonda M. Cooper-DeHoff 6 7 Department of Pharmacotherapy and(More)
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