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991.
992.
Yline Capri Lucas Bourmance Céline Dupont Marie-Hélène Saint-Frison Fabien Guimiot Sarah Grotto Yvon Chitrit Annie Laquerrière Judith Melki 《Clinical genetics》2023,104(5):587-592
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through whole-exome sequencing combined with arrayCGH from DNA of a fetus presenting with early onset AMC, we identified biallelic loss of function variants in Dystonin (DST): a stop gain variant (NM_001144769.5:c.12208G > T:p.(Glu4070Ter)) on the neuronal isoform and a 175 kb microdeletion including exons 25–96 of this isoform on the other allele [NC_000006.11:g.(56212278_56323554)_(56499398_56507586)del]. Transmission electron microscopy of the sciatic nerve revealed abnormal morphology of the peripheral nerve with severe hypomyelination associated with dramatic reduction of fiber density which highlights the critical role of DST in peripheral nerve axonogenesis during development in human. Variants in the neuronal isoforms of DST cause hereditary sensory and autonomic neuropathy which has been reported in several unrelated families with highly variable age of onset from fetal to adult onset. Our data enlarge the disease mechanisms of neurogenic AMC. 相似文献
993.
Marie-Christine J Plat Monique HW Frings-Dresen Judith K Sluiter 《BMC health services research》2010,10(1):32
Background
Clinimetric data for the fire fighting simulation test (FFST), a new test proposed for the Workers' Health Surveillance (WHS) of Dutch fire fighters, were evaluated. 相似文献994.
995.
Objective
to investigate factors important to women receiving midwife-led care with regard to their expectations for management of labour pain.Design
semi-structured ante partum interviews and analyses using constant comparison method.Participants
fifteen pregnant women between 36 and 40 weeks gestation receiving midwife-led care.Setting
five midwifery practices across the Netherlands between June 2009 and July 2010.Main outcome
women's expectations regarding management of labour pain.Results
we found three major themes to be important in women's expectations for management of labour pain: preparation, support and control and decision-making. In regards to all these themes, three distinct approaches towards women's planning for pain management in labour were identified: the ‘pragmatic natural’, the ‘deliberately uninformed’ and the ‘planned pain relief’ approach.Conclusion
midwives need to recognise that women take different approaches to pain management in labour in order to adapt care to the individual woman. 相似文献996.
This article posits that infection of the peripheral ganglia causes at least some cases of Chronic Fatigue Syndrome (CFS), with a neurotropic herpesvirus, particularly varicella-zoster virus (VZV), as the most likely cause of the infection. Virtually all CFS symptoms could be produced by an infection of the peripheral ganglia, with infection of the autonomic ganglia causing fatigue, postural hypotension, and sleep disturbances, and infection of the sensory ganglia causing sensory symptoms such as chronic pain. Furthermore, infections of the peripheral ganglia are known to cause long-term nerve dysfunction, which would help explain the chronic course of CFS. Herpesviruses have long been suspected as the cause of CFS; this theory has recently been supported by studies showing that administering antiherpes agents causes substantial improvement in some CFS patients. VZV is known to frequently reactivate in the peripheral ganglia of previously healthy adults and cause sudden, debilitating illness, making it a likely candidate as a cause of CFS. Moreover, many of the symptoms of CFS overlap with those of herpes zoster (shingles), with the exception that painful rash is not one of the symptoms of CFS. A model is therefore proposed in which CFS is one of the many manifestations of zoster sine herpete; that is, herpes zoster without rash. Furthermore, re-exposure to VZV in the form of chickenpox has become less common in the past few decades; without such re-exposure, immunity to VZV drops, which could explain the increased incidence of CFS. Co-infection with multiple herpesviruses is a possibility, as some CFS patients show signs of infection with other herpesviruses including Epstein-Barr, Cytomegalovirus, and HHV6. These three herpesviruses can attack immune cells, and may therefore promote neurotropic herpesvirus reactivation in the ganglia. The possibility of VZV as the causal agent in CFS has previously received almost no attention; the possibility that CFS involves infection of the peripheral ganglia has likewise been largely overlooked. This suggests that the search for a viral cause of CFS has been far from exhaustive. Several antiherpes drugs are available, as is a vaccine for VZV; more research into such agents as possible treatments for CFS is urgently needed. 相似文献
997.
998.
Judith B. Cornelius Janet S. St. Lawrence 《Journal for specialists in pediatric nursing》2009,14(2):123-131
PURPOSE. This study assessed African American adolescents' receptivity to an HIV-prevention curriculum enhanced by text messaging.
DESIGN AND METHODS. Two focus groups were conducted with 14 African American adolescents regarding how an HIV-prevention curriculum could be enhanced for text messaging delivery.
RESULTS. The adolescents were receptive to the idea of text messaging HIV-prevention information but wanted to receive a maximum of three messages per day during the hours of 4:00–6:00 p.m.
PRACTICE IMPLICATIONS. By taking the findings of this study, nurses, other healthcare providers, and community-based organizations can adapt evidence-based interventions for text messaging delivery to individuals at high risk for HIV infection. 相似文献
DESIGN AND METHODS. Two focus groups were conducted with 14 African American adolescents regarding how an HIV-prevention curriculum could be enhanced for text messaging delivery.
RESULTS. The adolescents were receptive to the idea of text messaging HIV-prevention information but wanted to receive a maximum of three messages per day during the hours of 4:00–6:00 p.m.
PRACTICE IMPLICATIONS. By taking the findings of this study, nurses, other healthcare providers, and community-based organizations can adapt evidence-based interventions for text messaging delivery to individuals at high risk for HIV infection. 相似文献
999.
Oxytocin is the drug most commonly associated with preventable adverse perinatal outcomes. In 2007 it was added to the Institute for Safe Medication Practices short list of medications “bearing a heightened risk of harm,” which may “require special safeguards to reduce the risk of error.” In January 2009 the American Journal of Obstetrics and Gynecology published a Clinical Opinion paper about oxytocin's inclusion on the list and how the obstetrics profession in the United States should respond. The authors call for the development of specific evidence‐based guidelines to reduce the likelihood of patient harm by limiting elective use of oxytocin, decreasing the need for indicated use, reducing dosages during necessary use, giving more responsibility and authority for the patient's safety to the professional who is “at the bedside administering and monitoring the oxytocin infusion” (i.e., the nurse), and accepting that “more time rather than more oxytocin is generally preferable” once adequate uterine activity has been achieved. It is unfortunate that this important paper discounted the risk of harm from cesarean sections and did not mention the strong linkage between epidural analgesia and use of oxytocin. Physicians, midwives, nurses, and others should examine and discuss these issues further in view of increased alertness to the risk of harm from unsafe use of oxytocin. 相似文献
1000.
Jan N. M. Schieveld Judith A. van der Valk Inge Smeets Eline Berghmans Renske Wassenberg Piet L. M. N. Leroy Gijs D. Vos Jim van Os 《Intensive care medicine》2009,35(11):1843-1849