In this chapter we use the relatively common genetic disease cystic fibrosis (CF) to illustrate many of the concepts covered in the book. CF is inherited in a simple recessive manner. Molecular genetics isolated the CFTR gene and electrical measurements showed the CFTR protein to be a plasma ...
Case Study: Cystic Fibrosis in the Newborn Cystic fibrosis (CF) is considered one of the most commonly occurring fatal genetic disorders. This disorder is associated with pancreatic insufficiency an... PA Saravia,R Cheryl - 《Neonatal Network》 被引量: 0发表: 2018年 Case study: cystic fibrosi...
This is a case study depicting the complications of managing cystic fibrosis and cystic fibrosis-related diabetes with the challenges of biological family dysfunction. It illustrates the variability of severity within the diagnosis of cystic fibrosis, as well as the fact that, despite multiple challenge...
Cystic FibrosisAdvances in biomedical research have created significant opportunities to bring to market a new generation of therapeutics. However, early-stage assets often fadoi:10.2139/ssrn.3376673Kim, EstherLo, Andrew W.Social Science Electronic Publishing...
Nasal polyposis and cystic fibrosis: review of literature and case report The aim of this study was to address whether NP might be a predictive factor for severity of CF. The authors collected data from the literature on NP as a ... MN Feuillet-Fieux,G Lenoir,I Sermet,... - 《Journal...
Among persons with intact immune defenses, underlying lung diseases such as chronic obstructive pulmonary disease or cystic fibrosis, predispose to infection1. The most common clinical manifestation of Nocardiosis, particularly in immunocompromised hosts, is a subacute to chronic pneumonia that can wax ...
case study n. a careful study of some social unit (as a corporation or division within a corporation) that attempts to determine what factors led to its success or failure a detailed analysis of a person or group from a social or psychological or medical point of view ...
Guidelines recommend that genetic reports should be clear to nonspecialists, including patients. We investigated the feasibility of creating reports for cystic fibrosis carrier testing through a rapid user-centered design process that built on a previous
Module 7 continues our focus on case studies with a look at some cases that illustrate how personalized medicine informs treatment decisions related to specific diseases/conditions. These include cystic fibrosis, Marfan syndrome, heart failure, neuropsychiatric diseases, and diabetes. Three cases/lessons...
Cholera may even shed light on the evolution and pathophysiology of cystic fibrosis, the most commonly inherited disease among Caucasians. The goal of this paper is to review, using case studies, some of the lessons learned from cholera throughout the ages, acknowledging those pioneers whose ...