Search results for "72"

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

2013

Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjogren syndrome triad (ataxia, cataracts, m…

Screening trematodes for novel intervention targets: a proteomic and immunological comparison of Schistosoma haematobium, Schistosoma bovis and Echin…

2011

SUMMARYWith the current paucity of vaccine targets for parasitic diseases, particularly those in childhood, the aim of this study was to compare protein expression and immune cross-reactivity between the trematodes Schistosoma haematobium, S. bovis and Echinostoma caproni in the hope of identifying novel intervention targets. Native adult parasite proteins were separated by 2-dimensional gel electrophoresis and identified through electrospray ionisation tandem mass spectrometry to produce a reference gel. Proteins from differential gel electrophoresis analyses of the three parasite proteomes were compared and screened against sera from hamsters infected with S. haematobium and E. caproni fo…

A case control study of statin and magnesium administration in patients after aneurysmal subarachnoid hemorrhage: incidence of delayed cerebral ische…

2008

To analyse the effect of the implementation of statin and magnesium treatment on delayed cerebral ischemia (DCI) and 14 day mortality in patients with subarachnoid hemorrhage (SAH).Retrospective, single-center, observational case control study. One hundred SAH patients received either simvastatin and magnesium, solely statin or no treatment.Eighteen percent (n=5) of patients receiving statin and magnesium treatment developed a DCI whereas 24% (n=5) in the statin group and 16% (n=8) in the control group had DCI. Dead by day 14 was registered in 18% (n=5) of patients in the statin and magnesium group, in 10% (n=2) in the statin group and in 27% (n=14) in the control group. None of the results…

A historical case of beaten-copper cranium

2007

The authors present the oldest historical case of a so-called beaten-copper cranium. The typical pattern was identified on a skull from a child, probably a boy, who died at approximately 6 years of age and was buried in a provisional cemetery used during the siege of Hanau, Germany, in 1635 and 1636. Morphological and radiological analyses of the severe digitate impressions ubiquitous on the child's endocranium support the diagnosis of chronically elevated intracranial pressure due to hydrocephalus.

Objectively measured physical activity in Finnish employees: a cross-sectional study.

2014

Objectives: To objectively measure the amount of intensity-specific physical activity by gender and age with respect to body mass index (BMI) during workdays and days off among Finnish employees. Design: A cross-sectional study. Setting: Primary care occupational healthcare units. Participants: A sample of 9554 Finnish employees (4221 men and 5333 women; age range 18–65 years; BMI range 18.5–40 kg/m2) who participated in health assessments related to occupational health promotion. Main outcome measurements: The amount of moderate-to-vigorous (MVPA) and vigorous (VPA) physical activity (≥3 and ≥6 metabolic equivalents, respectively) was assessed by estimating the minuteto-minute oxygen consu…

Different epidemiology of bloodstream infections in COVID-19 compared to non-COVID-19 critically ill patients: a descriptive analysis of the Eurobact…

2022

Funder: European society of Intensive Care Medicine

Sex-specific differences in chronic thromboembolic pulmonary hypertension. Results from the European CTEPH registry

2019

BACKGROUND: Women are more susceptible than men to several forms of pulmonary hypertension, but have better survival. Sparse data are available on chronic thromboembolic pulmonary hypertension (CTEPH). METHODS: We investigated sex-specific differences in the clinical presentation of CTEPH, performance of pulmonary endarterectomy (PEA), and survival. RESULTS: Women constituted one-half of the study population of the European CTEPH registry (N = 679) and were characterized by a lower prevalence of some cardiovascular risk factors, including prior acute coronary syndrome, smoking habit, and chronic obstructive pulmonary disease, but more prevalent obesity, cancer, and thyroid diseases. The med…

Abdominal infections in the intensive care unit: characteristics, treatment and determinants of outcome

2014

Background: Abdominal infections are frequent causes of sepsis and septic shock in the intensive care unit (ICU) and are associated with adverse outcomes. We analyzed the characteristics, treatments and outcome of ICU patients with abdominal infections using data extracted from a one-day point prevalence study, the Extended Prevalence of Infection in the ICU (EPIC) II.Methods: EPIC II included 13,796 adult patients from 1,265 ICUs in 75 countries. Infection was defined using the International Sepsis Forum criteria. Microbiological analyses were performed locally. Participating ICUs provided patient follow-up until hospital discharge or for 60 days.Results: Of the 7,087 infected patients, 1,…

Molecular evidence of HLA-B27 in a historical case of ankylosing spondylitis

2005

Venous thromboembolism in patients hospitalized for hip joint replacement surgery

2020

Venous thromboembolism (VTE) is a potentially life-threatening disease. Major transient risk factors include trauma, surgery, and immobilization. Patients undergoing hip joint replacement (HJR) are characterized by a high risk of postoperative VTE, but data on the time trends of VTE rates in this population are sparse.In an analysis of the German nationwide inpatient sample, we included all hospitalizations for elective primary HJR in Germany from 2005 to 2016. Time trends of the surgical procedure, overall death rates, and VTE rates were analysed, and predictors of VTE identified.Overall, 1,885,839 inpatients with elective primary HJR (59.1% women, 51.4% ≥70 years) were included in the ana…