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41.
The American College of Emergency Physicians (ACEP) published guidelines in July 2019 on the diagnosis and management of acute nontraumatic headaches in the emergency department, focusing predominantly on the diagnosis of subarachnoid hemorrhage and the role of imaging and lumbar puncture in diagnosis. The ACEP Clinical Policies document is intended to aide Emergency Physicians in their approach to patients presenting with acute headache and to improve the accuracy of diagnosis, while promoting safe patient care practices. The Clinical Policies document also highlights the need for future research into best practices to distinguish primary from secondary headaches and the efficacy and safety of current treatment options for acute headaches. The following commentary on these guidelines is intended to support and expand on these guidelines from the Headache specialists’ perspective, written on behalf of the Refractory, Inpatient, Emergency Care section of the American Headache Society (AHS). The commentary have been reviewed and approved by Board of Directors of the AHS. 相似文献
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Raffaele Ferrari Mia Kero Kin Mok Anders Paetau Pentti J. Tienari Olli Tynninen John Hardy Parastoo Momeni Auli Verkkoniemi-Ahola Liisa Myllykangas 《Neurobiology of aging》2014
A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic gangliocytoma (Lhermitte-Duclos disease), a rare hamartoma/overgrowth syndrome of cerebellar granule cells associated with mutations in the phosphatase and tensin homolog gene. In addition to the dysplastic gangliocytoma, the patient showed typical transactive response DNA-binding protein with Mr 43 kD (TDP-43) pathology mainly in the cortex and the substantia nigra and numerous p62-positive/TDP-43-negative inclusions in the cerebellar granule cells. His sister carried the same gene defect and showed a similar type of TDP-43/p62 pathology in her brain. Our findings confirm that the clinical and pathologic picture of C9orf72 mutation carriers is more heterogeneous than originally thought and warrants further studies on the possible involvement of phosphatase and tensin homolog gene pathway in the specific cerebellar granule cell pathology associated with C9orf72 expansion. 相似文献
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Lena Sharp Hemming Johansson Thomas Hatschek Mia Bergenmar 《Breast (Edinburgh, Scotland)》2013,22(5):634-638
Risk factors for severe acute radiation skin reactions (ARSR) have been described with conflicting results. The aim of this study was to identify risk factors for the development of severe ARSR in women undergoing adjuvant radiotherapy (RT) for breast cancer.390 women were assessed at the first and final RT sessions and at followup. ARSR were measured by the Radiation Therapy Oncology Group/The Organization for Research and Treatment of Cancer, Acute Radiation Morbidity Scoring Criteria (RTOG/EORTC scale). Patients reported symptoms using visual analogue scale (VAS). Health related quality of life was assessed by EORTC QLQ-C30 and sleep disturbances by the MOS-Sleep questionnaire. Clinical data included smoking status (carbon monoxide in expired air), body mass index (BMI) and treatment data.RT dose, ≥50 Gy (mean difference 1.9 CI: 1.0 to 3.5, p = 0.040), high BMI (mean difference 4.3 CI: 2.2 to 8.3, p < 0.001) and smoking (mean difference 2.5 CI. 1.1 to 5.7, p = 0.027) were the factors strongest related to severe ARSR. Patients' with severe ARSR reported higher levels of pain and increased sleeping problems.To stop smoking during RT is the best decision patients can make to reduce the risk for severe ARSR since smoking is an independent risk factor. 相似文献
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Non‐keratinocyte SNAP29 influences epidermal differentiation and hair follicle formation in mice 下载免费PDF全文
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Targeted sequencing using a 47 gene multiple myeloma mutation panel (M3P) in ‐17p high risk disease 下载免费PDF全文
Klaus M. Kortüm Christian Langer Jorge Monge Laura Bruins Jan B. Egan Yuan X. Zhu Chang Xin Shi Patrick Jedlowski Jessica Schmidt Juhi Ojha Lars Bullinger Peter Liebisch Miriam Kull Mia D. Champion Scott Van Wier Gregory Ahmann Leo Rasche Stefan Knop Rafael Fonseca Hermann Einsele A Keith Stewart Esteban Braggio 《British journal of haematology》2015,168(4):507-510
We constructed a multiple myeloma (MM)‐specific gene panel for targeted sequencing and investigated 72 untreated high‐risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high‐risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM. 相似文献
50.
Pharmacokinetics and pharmacodynamics of pravastatin in children with familial hypercholesterolemia 总被引:1,自引:0,他引:1
Hedman M Neuvonen PJ Neuvonen M Antikainen M 《Clinical pharmacology and therapeutics》2003,74(2):178-185
BACKGROUND: Pravastatin is a widely used statin in adults, but its pharmacokinetics in children is not known. Our aim was to determine the single-dose pharmacokinetics and the lipid-lowering effect and safety of short-term administration of pravastatin in children. METHODS: Twenty children (age range, 4.9-15.6 years) with heterozygous familial hypercholesterolemia ingested a single dose of 10 mg pravastatin. Plasma concentrations of pravastatin were measured for up to 10 hours. The patients then took 10 mg pravastatin orally once daily for 8 weeks. The concentration of serum lipids and safety laboratory parameters were measured before and after 8 weeks of treatment. RESULTS: The mean peak plasma concentration (C(max)) of pravastatin was 15.7 ng/mL (range, 1.6-55.0 ng/mL), and the mean time to reach C(max) was 1.4 hours (range, 0.5-4 hours). The mean elimination half-life of pravastatin was 1.6 hours (range, 0.85-4.2 hours). The area under the plasma concentration-time curve of pravastatin ranged from 5.7 to 58.9 ng. h/mL (mean value, 26.6 ng. h/mL). By 8 weeks of treatment, the serum concentration of total cholesterol had decreased 18% (P <.0001); low-density lipoprotein cholesterol, 21% (P <.0001); and triglycerides, 18% (not significant, P =.18). The concentration of high-density lipoprotein cholesterol had increased 8% (not significant, P =.13). Few transient adverse events occurred. No increases in serum alanine aminotransferase, creatine kinase, or creatinine level were observed. CONCLUSIONS: The pharmacokinetic and pharmacodynamic profile of pravastatin in children is similar to that reported for adults. In the short term, the daily dose of 10 mg pravastatin was well tolerated and moderately effective in decreasing the serum cholesterol concentration. However, further studies are needed on the long-term safety and efficacy of pravastatin in children. 相似文献