Cystic fibrosis: experience in one institution.

Cystic fibrosis (CF) is one of the most common autosomal recessive inherited disorders among Caucasians. Comparatively, it is considered to be a rare disease among Asians. To date, only a few cases of Taiwanese CF have been published.

Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton's disease.

Background And Objective: X-linked agammaglobulinemia (XLA, also called Bruton's disease) is is an X-linked recessive disorder characterized by recurrent bacterial infections, usually occurring in the first few years of life. Here, we report the results of a BTK gene mutation screening study that was performed in Taiwanese families with the BTK gene defect to further understand the inheritance patterns of XLA patients in Taiwan and to avoid new cases of XLA within families.

Materials And Methods: In this study, 52 members of 4 unrelated Taiwanese families with the BTK gene defect were enrolled.

Juvenile scleroderma: experience in one institution.

Background: Scleroderma is a chronic connective tissue disease characterized by hardened or scaly skin and widespread abnormalities of the viscera, which is rare in the pediatric age group.

Objective: In this study, we retrospectively reviewed 23 pediatric patients suffering systemic (SSc) and localized (LS) scleroderma.

Methods: Twenty-three patients were enrolled and were diagnosed with SSc or LS from March 1993 to September 2009 in the Department of Pediatrics at Mackay Memorial Hospital in Taipei, Taiwan.

Factors for high-risk asthma in Taiwanese children.

Background: Asthma is one of the major causes of death in otherwise healthy young individuals. However, many of these deaths may have been prevented by more aggressive treatment. To determine factors correlated with a high risk of death in Taiwanese children with atopic asthma.