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.932C>G,p.Ser311Ter) and an exon 5 deletion in ASCC1 segregating with phenotypes was detected, both variants are novel and pathogenic. Since ASCC1 is a relatively new disease gene, we performed the gene curation by ClinGen SOP. The existing evidence is sufficient to support a "Definitive" level of disease-gene relationship. CONCLUSION: This case report expended the mutation spectrum of ASCC1 and support the notion that this novel disease also occurs in outbreed populations and this is a rare disease but may still be underdiagnosed due to its perinatal lethal outcomes.

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. A family with two hemophilia B patients was recruited in this study. Coagulation assays, activities of FVIII (FVIII:C) and FIX (FIX:C) were evaluated. All of the exons and intron exon boundaries of the F9 gene were amplified by PCR and analyzed by direct sequencing. The proband, 12-year-old boy with moderate bleeding history, had manifest prolonged activated partial thromboplastin time (98.1 s) and markedly decreased FIX activity (1%). His maternal uncle presented slightly prolonged activated partial thromboplastin time (48.2 s) and mildly decreased FIX activity (15.2%). Molecular genetic analysis of F9 revealed that they were hemizygous for a novel missense mutation, c.157G>C (p.Glu53Gln). Our study widens the mutation spectrum of the FIX gene. In addition, this report provides a specific case associated with genotype and phenotype heterogeneity of hemophilia B.

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. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China. CASE PRESENTATION: A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order. CONCLUSION: Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

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. Content validity, construct validity, internal consistency and stability reliability were assessed. The Content Validity Index of the Chinese version of CARE-Q was 0.90. Cronbach's alpha indicated good internal consistency reliability. Stability reliabilities for the six subscales ranged from 0.83 to 0.92. The results reveal that the Chinese version of the CARE-Q scale for the measurement of patients' perceptions on nurses' caring behaviours indicates high reliability (internal consistency and stability) and good content validity.

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. DESIGN: The study was a cross-sectional study with purposive sampling. METHOD: The instrument was developed through 20 semi-structured interviews of caregivers of mentally ill patients. A comparative method was used to analyse the text and field notes. According to the results, 29 items were designed and 318 caregivers of mentally ill patients were recruited from a psychiatric outpatient department in central Taiwan. Content and back direct content validity tests were conducted. Internal consistency, Chronbach's alpha, was used to examine the reliability, and exploratory factor analysis was used to examine the construct validity. RESULTS: Twenty items were kept after exploratory factor analysis. They represent four factors: the benefits of care-giving, a belief in Karma, personal responsibility and a reflection on life. Cronbach's alpha value for a subscale increased from 0·68-0·84, and the total scale was 0·84. A sixty per cent (59·55%) cumulative variance can be explained by four factors. CONCLUSION: A Taiwanese caregiver meaning can be considered a useful scale for assessing the meaning of care-giving for Taiwanese caregivers of mentally ill patients. A good scale and instrument take years to develop. This study takes the first step to examine the structure of the scale, and it is worth continued testing, modification and improvements. RELEVANCE TO CLINICAL PRACTICE: The scale of Taiwanese caregiver meaning was developed based on certain aspects of contemporary Taiwanese culture. It can be used to provide mental health professionals new counselling knowledge to assist caregivers of mentally ill patients to adjust to their circumstances.

[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. As globalization continues it will pose substantial problems for nursing education. Nursing is a service-oriented activity which has to develop constantly to meet the changing demands of the public as people start to live longer, society becomes more multi-cultural, the nature of diseases and other health problems changes and public policy, such as that on National Health Insurance, is modified. This article outlines the problems currently facing nursing education (i.e., the complexity of the educational system, shortcomings in the learning environment, curriculum design, the quality of faculty, evaluation methods, and the quality of students' English and Mathematics) to predict likely difficulties (i.e. student recruitment, the running of schools and the quality of clinical nurses) and trends in nursing education. (i.e. changes in the way schools are run in line with the impact of globalization, new teaching methods; faculty training and development, lifelong learning, and the internationalization of education.) The article should be of interest to nursing educators.

[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.g., children growing up and leaving home). In addition to facing these changes and their impacts, adults must also take on challenges in terms of self-concept, body image, life goals, and life meaning. Illnesses that commonly occur during this life stage include menopausal depression, substance abuse, and anxiety. Traditional treatment models are medical-oriented, but curative effects are limited and hospital visits still occur at high frequencies, resulting in increased medical expenses and disruptions in family life. The authors review the current literature on curative models in this area, and discuss the potential of a combination of physical therapy, cognitive, and existential-humanistic therapy to improve patients' physical strength, self-concept, self-esteem, and self-confidence in an effort to overcome physio-psycho-social disorders and to increase vitality.