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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey.
BMC Neurol
September 2024
Department of Neurology, Ege University Medical School Bornova, Izmir, 35100, Turkey.
Background: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), a relatively common cause of late-onset progressive ataxia, is a genetic disease characterised by biallelic pentanucleotide AAGGG repeat expansion in intron 2 of the replication factor complex subunit 1 gene. Herein, we describe the first molecularly confirmed CANVAS family with five affected siblings from Turkey.
Case Presentation: The family comprised seven siblings born from healthy non-consanguineous parents.
[PCR-confirmed late-onset Candida albicans endophthalmitis from a retinal biopsy].
Ophthalmologie
September 2022
Klinik für Augenheilkunde, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Deutschland.
Testosterone Deficiency Is a Risk Factor for Severe COVID-19.
Front Endocrinol (Lausanne)
July 2021
Department of Internal Medicine II, Innsbruck Medical University, Innsbruck, Austria.
Background: Male sex is related to increased COVID-19 severity and fatality although confirmed infections are similarly distributed between men and women. The aim of this retrospective analysis was to investigate the impact of sex hormones on disease progression and immune activation in men with COVID-19.
Patients And Methods: We studied for effects of sex hormones on disease severity and immune activation in 377 patients (230 men, 147 women) with PCR-confirmed SARS-CoV-2 infections hospitalized at the Innsbruck University Hospital between February and December 2020.
Ventilator-associated pneumonia in patients with SARS-CoV-2-associated acute respiratory distress syndrome requiring ECMO: a retrospective cohort study.
Ann Intensive Care
November 2020
Service de Médecine Intensive Réanimation, Institut de Cardiologie, ICAN, Assistance Publique-Hôpitaux de Paris (APHP), Sorbonne-Université, Groupe Hospitalier Pitié-Salpêtrière, 47-83, Boulevard de L'Hôpital, 75651, Paris Cedex 13, France.
Background: The data on incidence, clinical presentation, and outcomes of ventilator-associated pneumonia (VAP) in patients with severe coronavirus disease 2019 (COVID-19) pneumonia requiring mechanical ventilation (MV) are limited. We performed this retrospective cohort study to assess frequency, clinical characteristics, responsible pathogens, and outcomes of VAP in patients COVID-19 pneumonia requiring MV between March 12th and April 24th, 2020 (all had RT-PCR-confirmed SARS-CoV-2 infection). Patients with COVID-19-associated acute respiratory distress syndrome (ARDS) requiring ECMO were compared with an historical cohort of 45 patients with severe influenza-associated ARDS requiring ECMO admitted to the same ICU during the preceding three winter seasons.
View Article and Find Full Text PDFObjective: Preeclampsia (PE) can be sub-divided into early- and late-onset phenotypes. The pathogenesis of these two phenotypes has not been elucidated. To gain insight into the mechanisms of disease, the transcriptional profiles of whole blood from women with early- and late-onset PE were examined.
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