Publications
The molecular genetic epidemiology of cystic fibrosis
Making a diagnosis of Cystic Fibrosis (CF) is not always simple. Initially, CF was recognised as a clinical syndrome. Many diagnostic problems were resolved by the development of the sweat test in 1950. The test remains clinically reliable for most cases, but the occasional occurrence of false-negative and false-positive results has always been recognised. With the cloning of the gene for the CF transmembrane conductance regulator(CFTR) in 1989 clinicians hoped that genetic testing for CF would be both sensitive and specific. However, the more than 900 mutations so far identified in the CFTR gene have made genetic testing for CF difficult to develop, and making a definitive diagnosis in atypical cases has become sometimes more, rather than less, difficult.
Services for adults with cystic fibrosis
Cystic fibrosis is a genetic disease with significant variations in incidence, morbidity and mortality around the world. Although most often reported in white Caucasians, since discovery of the mutated gene in 1989 [4] it is also being diagnosed with increasing frequency in other populations, often with variant clinical expression.
Manual for Cystic Fibrosis Patients and their Parents
This Manual is designed to help Cystic Fibrosis patients and their parents to have a better understanding of Cystic Fibrosis as a disease. It has been produced jointly by the World Health Organization (WHO) and the International Cystic Fibrosis (Mucoviscidosis) Association (ICF(M)A), in response to requests for a simple document which is suitable for families in all countries who may have difficulty in attending a well-developed specialist CF clinic or obtaining detailed information about the disease.
Implementation Cystic Fibrosis Services in Developing Countries
Although CF is a serious genetic disease which is widespread throughout the world, there are significant variations in incidence with relative sparing of the African and Oriental races. Although recognition of CF and provision of appropriate clinical services are well developed in Western Europe, the USA and Australia, there are large populations in whom the disease is infrequently recognized and inadequately treated, with consequent avoidable death and suffering in infancy, childhood and adult life.
Guidelines for the diagnosis and management of Cystic Fibrosis
This publication is intended primarily for pediatrician, physicians and other health professionals involved in the diagnosis and care of patients with cystic fibrosis. Few diseases illustrate more vividly the inequalities in knowledge, practice and resources which exist between the health services of affluent, 'developed' countries and those at an earlier stage of 'development'.
Classification of Cystic Fibrosis and Related Disorders
Making a diagnosis of Cystic Fibrosis (CF) is not always simple.1 Initially, CF was recognized as a clinical syndrome. Many diagnostic problems were resolved by the development of the sweat test in 1950.2 The test remains clinically reliable for most cases,3 but the occasional occurrence of false-negative and false-positive results has always been recognized.
(Turkish) KİSTİK FİBROZİS HASTALARI VE EBEVEYNLERİ İÇİN EL KİTABI
Bu el kitabı, Kistik Fibrozis hastalarına ve ebeveynlerine hastalık hakkında daha iyi bir anlayış oluşturmaya yardımcı olmak amacı ile tasarlanmıştır. Bu kılavuz, iyi gelişmiş uzman bir Kistik Fibrozis kliniğine ulaşmakta ve hastalık hakkında ayrıntılı bilgi almakta zorluk yaşayabilecek ailelerin ihtiyaçlarına cevap vermek üzere, tüm ülkeler için, Dünya Sağlık Örgütü (WHO) ve Uluslararası Kistik Fibrozis (mukovisidozis) Birliği (ICF(M)A) tarafından hazırlanmıştır.
(Spanish) Manual para pacientes con fibrosis quística y sus padres
Este manual está destinado a ayudar a pacientes con Fibrosis Quística y a sus padres a comprender mejor la Fibrosis Quística como una enfermedad. Ha sido producido conjuntamente por la Organización Mundial de la Salud (OMS) y la International Cystic Fibrosis (Mucoviscidosis) Association (ICF(M)A), en respuesta a las solicitudes de una documentación simple que sea apropiada para familias en todos los países que tengan dificultad para concurrir a un especialista en FQ adecuadamente formado o para obtener información detallada sobre la enfermedad.
(Arabic) آتيب خاص بمرضى التليف الكيسي وأولياء أمورهم
This Manual is designed to help Cystic Fibrosis patients and their parents to have a better understanding of Cystic Fibrosis as a disease. It has been produced jointly by the World Health Organization (WHO) and the International Cystic Fibrosis (Mucoviscidosis) Association (ICF(M)A), in response to requests for a simple document which is suitable for families in all countries who may have difficulty in attending a well-developed specialist CF clinic or obtaining detailed information about the disease.
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