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71.
Virginia H. Black 《Developmental dynamics》1971,131(4):415-425
In fetal testes of non-inbred guinea pigs, virus-like particles were seen in the primordial germ cells, but not in the somatic cells. Using the particles as a marker for the gonocytes it was possible to trace the phagocytosis of degenerating gonocytes by the Sertoli cells in the fetal testis. 相似文献
72.
John Timothy Wright Mary Fete Holm Schneider Madelaine Zinser Maranke I. Koster Angus J. Clarke Smail Hadj‐Rabia Gianluca Tadini Nina Pagnan Atila F. Visinoni Birgitta Bergendal Becky Abbott Timothy Fete Clark Stanford Clayton Butcher Rena N. D'Souza Virginia P. Sybert Maria I. Morasso 《American journal of medical genetics. Part A》2019,179(3):442-447
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins). 相似文献
73.
Virginia P. Johnson Willis C. Sutliff 《American journal of medical genetics. Part A》1994,52(2):184-187
Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) wiht verification using DNA in situ hybridization. © 1994 Wiley-Liss, Inc. 相似文献
74.
Flor-Alemany Marta Baena-García Laura Migueles Jairo H. Henriksson Pontus Löf Marie Aparicio Virginia A. 《Quality of life research》2022,31(9):2705-2716
Quality of Life Research - The relation between diet and maternal mental health during pregnancy might be relevant to prevent adverse materno-foetal outcomes. This study examined the association of... 相似文献
75.
Robyn M. Mullins Bridget E. Kelly Patrick Spike Chiappalone Virginia J. Lewis 《Health expectations》2021,24(3):930
BackgroundDespite policies and programmes aimed at housing people who are homeless, there are still people who live and sleep rough. This project used the skills and knowledge of people in this situation to identify a strategy to mitigate some of the risks.ObjectiveTo describe the development and conduct of a co‐design project involving people who are homeless.Setting/Group MembersA Working Group of 11 was formed following a careful recruitment process from people who had volunteered after consultation by the project team. The co‐design approach was guided by a set of principles.MethodsEight members of the Working Group were interviewed by an external researcher (RM). The approach was primarily deductive, with the principles adopted by the project team used as a framework for data collection and analysis. The co‐design process was captured by the project leaders (BK, PC) supplemented with documentation review and team discussions.ResultsThe group met weekly for 12 weeks, with 8‐10 members present on average. They reviewed information from the survey, contributed ideas for solutions and ultimately decided to provide information via print, a website and an event. Important factors in on‐going involvement were carefully selecting group members and making participation rewarding for them.Discussion/ConclusionsVulnerable people such as those experiencing homelessness can be excluded from decision‐making processes affecting them, as they can be perceived as hard to reach and unable to make a meaningful contribution. This project demonstrated that a carefully managed project, with sufficient resources and commitment, it was possible to involve people who are homeless and maintain involvement over an extended time period.Public ContributionThe Working Group reviewed survey findings and developed an intervention to minimize the health, social and legal harms of sleeping rough. Several members reviewe this paper. 相似文献
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Marie Hudson Cybele Ghossein Virginia Steen 《Presse medicale (Paris, France : 1983)》2021,50(1):104063
Scleroderma renal crisis (SRC) is a rare but life-threatening complication of systemic sclerosis (SSc) characterized by malignant hypertension and acute kidney injury. Historically, SRC was the leading cause of death in SSc. However, with the advent of angiotensin converting enzyme (ACE) inhibitors, mortality rates have decreased significantly. Nevertheless, one-year outcomes remain poor, with over 30% mortality and 25% of patients remaining dialysis-dependent. There is an urgent need to improve early recognition and treatment, and to identify novel treatments to improve outcomes of SRC. In this chapter, the clinical features, classification, pathophysiology, differential diagnosis, management and outcomes of SRC are presented. Specific issues relating to pregnancy, prophylactic ACE inhibition and management of essential hypertension are also discussed. 相似文献
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Daniel López-Padilla Francisco García-Río Adolfo Alonso-Arroyo Nuria Arenas Valls Alicia Cerezo Lajas Marta Corral Blanco Virginia Gallo González Milagros Llanos Flores María Martínez Redondo Natalia Martos Gisbert Elena Ojeda Castillejo Marta Padilla Bernáldez Marta Pérez Gallán Vania Prudencio Ribera Luis Puente Maestu Beatriz Recio Moreno Elena Rodríguez Jimeno Ana Sánchez Azofra José Ignacio de Granda-Orive 《Archivos de bronconeumologia》2021,57(2):146-147