Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Background: A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016.

Methods: A proband from a non-consanguineous Chinese family presented with neonatal severe hypotonia, respiratory distress, muscle weakness, and atrophy, as well as congenital bone fractures was performed by exome sequencing.

Results: A compound heterozygosity of a nonsense (c.

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.

: Hemophilia B is an X-linked recessive bleeding disorder caused by diverse mutations throughout the F9 gene. The same F9 mutation may result in different degrees of clotting factor deficiency. The aim of this study was to investigate the pathogenesis of two hemophilia B patients with different severity in a family.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Background: Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare.

A Chinese version of the Caring Assessment Report Evaluation Q-sort scale for measuring patients' perception on nurses' caring behaviours: reliability and validity assessment.

A reliable and valid instrument for understanding patients' perceptions of nurses' caring behaviour as well as assessing the quality of nursing care is necessary. The purpose of this study was to assess the reliability and validity of a Chinese version of the Caring Assessment Report Evaluation Q-sort (CARE-Q) Scale for the measurement of patients' perceptions of nurses' caring behaviours. The study sample comprised 250 patients from a medical centre in central Taiwan.

The development and testing of a scale of Taiwanese caregiver meaning.

Aims: The purpose of this study was to develop and test a scale of Taiwanese caregiver meaning.

Background: The meaning of care-giving is defined as the beliefs one holds about oneself and the care-giving experiences that affect adjustment to the care-giving role. An existing tool, the Meaning in Care-giving Scale, has been tested in Taiwan, but it showed that the construct validity was unreliable.

[Future trends in nursing education in Taiwan in the light of globalization].

The twenty-first century is the era of the knowledge-based economy. Its information networks developing rapidly, Taiwan has already entered an age of liberalization, diversity and globalization. Competition and change will be the norm.

[Adult health problems and coping at life turning points].

At important life turning points, middle-aged adults face many physiological changes (e.g., aging, changes in hormone levels) and alterations in family structure (e.