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Tomonori Ishiguro Yuichiro Sugiyama Kazuto Ueda Yukako Muramatsu Hiroyuki Tsuda Tomomi Kotani Toshimi Michigami Kanako Tachikawa Tomoyuki Akiyama Masahiro Hayakawa 《Brain & development》2019,41(8):721-725
Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene. HPP is characterized by defective bone mineralization. It frequently accompanies pyridoxine-responsive seizures. Because alkaline phosphatase change pyridoxal 5′ phosphate (PLP) into pyridoxal (PL), which can cross the blood brain barrier and regulates inhibitory neurotransmitter gamma-aminobutyric acid. The female patient was born at a gestational age of 37 weeks 2 days. She presented severe respiratory disorder due to extreme thoracic hypoplasia. With the extremely low serum ALP value (14 IU/L), she was clinically diagnosed as HPP. The diagnosis was confirmed with genetic testing. On day1, the subclinical seizures were detected by aEEG. Together with enzyme replacement therapy by asfotase alfa, pyridoxine hydrochloride was administered, then the seizures were rapidly controlled. While confirming that there was no seizure by aEEG monitoring, pyridoxine hydrochloride was gradually discontinued after 1 month. Before administration of pyridoxine hydrochloride, PL was extremely low (4.7 nM) and PLP was increased (1083 nM). After the withdrawal, PL was increased to 84.9 nM only by enzyme replacement. Monitoring with aEEG enabled early intervention for pyridoxine responsive seizures. Confirming increased serum PL concentration is a prudent step in determining when to reduce or discontinue pyridoxine hydrochloride during enzyme replacement therapy. 相似文献
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The term “positional asphyxia” was originally used to describe the situation in which the upper airways becomes compromised by sharp angulation of the head or neck, or where the chest wall is splinted and the diaphragm is prevented from moving because of an unusual position of the body. The term was redefined in the early 1980s to describe sudden death during physical restraint of an individual who is in a prone position. A large percent of reported victims were overweight males. Most were in early middle age and manifesting psychotic behavior at the time of death. Most were reported to have unremarkable autopsies, save for the finding, in many cases, of cocaine or methamphetamine (more recently synthetic cannabinoids and cathinones as well). As no cause of death was apparent (other than non-specific signs such as pulmonary edema), it became common practice to attribute death to force exerted on the decedent's back. When experimental studies with human volunteers disproved this notion, the term “restraint asphyxia” was substituted for positional asphyxia, but with nearly the exact same meaning. No experimental study has ever determined the actual amount of force necessary to cause asphyxia by force applied to the back (although the range of required static force is known), nor the duration for which it must be applied.This review discusses the epidemiology and the evidence for and against the theory of “restraint/positional” asphyxia. It also considers alternative theories of causation, including the findings of studies suggesting that cardiac channelopathies/cardiomyopathies may explain many cases of ARD. 相似文献
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Karim Hajjar Iskandar Berbari Chady El Tawil Ralphe Bou Chebl Gilbert Abou Dagher 《The American journal of emergency medicine》2018,36(8):1474-1479
In the setting of cardiac arrest, refractory ventricular fibrillation (VF) is difficult to manage, and mortality rates are high. Double sequential defibrillation (DSD) has been described in the literature as a successful means to terminate this malignant rhythm, after failure of traditional Advanced Cardiac Life Support (ACLS) measures. The authors herein present a case of refractory VF in a patient with cardiac arrest, on whom DSD was successful in reversion to sinus rhythm, and provide a thorough review of similar cases in the literature. 相似文献
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Background
The benefit of therapeutic hypothermia (TH) for comatose adult patients with return of spontaneous circulation after cardiac arrest (CA) with non-shockable initial rhythms is uncertain. We evaluated whether TH reduces mortality and improves neurological outcome in comatose adults resuscitated from non-shockable CA.Methods
We searched PubMed, EMBASE, CENTRAL, and BIOSIS through March 2010, to identify studies using TH after non-shockable CA. Randomized and non-randomized studies (RS and NRS) comparing survival or neurological outcome in TH and standard care or normothermia were selected. We corresponded with authors to clarify data missing from published articles. Individual and pooled statistics were calculated as risk ratios (RRs) with 95% confidence interval (CI). Both fixed- and random-effects models were used for both meta-analyses.Findings
Two RS and twelve NRS were included in the meta-analysis and separately analyzed. The pooled RR for 6-month mortality of two RS was 0.85 (95% CI 0.65-1.11). The pooled RR for in-hospital mortality for 10 NRS was 0.84 (95% CI 0.78-0.92) and for poor neurological outcome on discharge was 0.95 (95% CI 0.90-1.01) in random-effects model. In subgroup analysis for the NRS with out-of-hospital CA, the pooled RR for in-hospital mortality was 0.86 (95% CI 0.76-0.99) and for the poor neurological outcome on discharge was 0.96 (95% CI 0.90-1.02). For the prospective NRS, the pooled RR for in-hospital mortality was 0.76 (95% CI 0.65-0.89) and for the poor neurological outcome on discharge was 0.96 (95% CI 0.90-1.02). Most of studies had substantial risks of bias and overall quality of evidence was very low.Interpretation
TH is associated with reduced in-hospital mortality for adults patients resuscitated from non-shockable CA. However, most of the studies had substantial risks of bias and quality of evidence was very low. Further high quality randomized clinical trials would confirm the actual benefit of TH in this population. 相似文献59.
Sanjiv M. Narayan Paul J. Wang James P. Daubert 《Journal of the American College of Cardiology》2019,73(1):70-88
Sudden cardiac arrest (SCA) is one of the largest causes of mortality globally, with an out-of-hospital survival below 10% despite intense research. This document outlines challenges in addressing the epidemic of SCA, along the framework of respond, understand and predict, and prevent. Response could be improved by technology-assisted orchestration of community responder systems, access to automated external defibrillators, and innovations to match resuscitation resources to victims in place and time. Efforts to understand and predict SCA may be enhanced by refining taxonomy along phenotypical and pathophysiological “axes of risk,” extending beyond cardiovascular pathology to identify less heterogeneous cohorts, facilitated by open-data platforms and analytics including machine learning to integrate discoveries across disciplines. Prevention of SCA must integrate these concepts, recognizing that all members of society are stakeholders. Ultimately, solutions to the public health challenge of SCA will require greater awareness, societal debate and focused public policy. 相似文献
60.
ETS-family genes in pancreatic development. 总被引:1,自引:0,他引:1
Sune Kobberup Pia Nyeng Kirstine Juhl John Hutton Jan Jensen 《Developmental dynamics》2007,236(11):3100-3110
ETS-family factors play major roles in development and cancer, notably as critical targets for extra-cellular signaling pathways, including MAPK-signaling. Given the presently limited knowledge on the role of ETS-factors in pancreatic development, we here sought to characterize all 26 individual members of the ETS-family in relation to pancreatic development using a combination of genomics, RT-PCR, and histological techniques. This analysis uncovers 22 ETS family genes displaying select spatial and temporal expression patterns in the developing pancreas. Highly specific expression of ETS-family components is observed in pancreatic progenitor cells or the associated embryonic mesenchyme. Other members are linked to the differentiation of more mature pancreatic cells, including exocrine and endocrine cell types. We find that two members of the Etv subfamily, Etv4 and Etv5, are expressed in cells proximal to pancreatic mesenchyme, and, furthermore, induced in FGF10-arrested pancreatic progenitors suggesting that these factors mediate mesenchymal-to-epithelial signaling. 相似文献