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Baller–Gerold syndrome (BGS, OMIM: 218600), RAPADILINO syndrome (OMIM 266280), and Rothmund–Thomson syndrome (RTS, OMIM 266280), which are caused in some cases by RECQL4 pathogenic variants, show autosomal recessive inheritance. Some refer to them collectively as RECQL4 syndromes. Most cases have been reported during infancy and childhood periods. However, there have been no reports of phenotypes resulting in a lethal course in the perinatal period. We identified two fetuses with biallelic RECQL4 pathogenic variants during the perinatal period. The two fetuses with RECQL4 syndrome showed structural abnormalities, including severely hypoplastic forearms and lower legs. One fetus also had severe pulmonary hypoplasia. One case resulted in neonatal death because of respiratory failure, and the other was artificially terminated during pregnancy. The RECQL4 pathogenic variants were identified by exome sequencing followed by Sanger sequencing. The biallelic RECQL4 pathogenic variants can induce a lethal skeletal disorder. [ABSTRACT FROM AUTHOR]

A 27‐year‐old multiparous woman conceived her fetus naturally. Early second‐trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole‐exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in IFT122. The phenotype of this case was severer than of other types of cranioectodermal dysplasia. [ABSTRACT FROM AUTHOR]

Purpose: Psychological violence and harassment have been reported to be associated with mental health problems and turnover intention among nurses. Cyberbullying, a hidden form of harassment using information and communication technology, is attracting attention as a factor that threatens the mental health of nurses. This study aimed to add coping characteristics, social support, and workplace social capital to psychological violence, harassment, and cyberbullying in female nurses and determine their association with depression and turnover intention., Participants and Methods: An anonymous, self-administered questionnaire survey was conducted, targeting 2,158 female nurses working in four domestic hospitals, excluding those in management positions. The analysis included 1,151 nurses who responded (valid response rate: 53.3%). Multiple regression analysis was performed with depression and turnover intention as dependent variables and psychological violence and harassment, cyberbullying, the brief scales for coping profile (BSCP) and social support scale scores, and social capital (SC) as independent variables., Results: Depression was positively correlated with psychological violence and harassment, cyberbullying, and the BSCP subscale "avoidance and suppression" and negatively correlated with the BSCP subscale "changing the point of view" and social support subscales "support from supervisors" and "support from co-workers." Turnover intention was positively correlated with psychological violence and harassment and the BSCP subscale "avoidance and suppression" and negatively correlated with the BSCP subscale "changing the point of view," social support subscale "support from supervisors," and vertical SC., Discussion and Conclusion: The results suggest that work environments should prevent psychological violence and harassment in nurses to promote a sense of security and eliminate mental health problems. Cyberbullying was inferred as a factor that could lead to mental health problems among nurses. Therefore, each nurse should raise their awareness of information literacy, besides attending more to their words and attitudes.

The need for improved nutrition in older adults requiring care has been acknowledged, but, to the best of our knowledge, there is a lack of systematic review and integration of nutritional care studies with older adults in nursing homes. This scoping review aimed to examine the scope and nature of nutritional care research for older adults in nursing homes and to identify research gaps, following the guidelines of the Joanna Briggs Institute. We found varied nutritional care for older adults living in nursing homes, including individualized sessions, such as nutrition counseling, the addition of foods and preparations for increased nutritional intake, and the maintenance of an eating environment, such as feeding assistance and calling. The nutritional care identified in this scoping review also included studies that have improved the nutritional status of older adults in nursing homes by implementing educational programs for care staff. For future research on effective nutritional care for older adults in nursing homes, we suggest evaluating both short- and long-term intervention effects with an adequate sample size.