Clinical phenotype and genetic analysis of a fetus with recombinant chromosome 8 syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome.@*METHODS@#A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis.@*RESULTS@#Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal.@*CONCLUSION@#The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.

The current situation of risk assessment and scale applicating of neonatal pressure injury / 中国实用护理杂志

Objective@#To investigate the current situation of risk assessment of neonatal pressure injury (PI) and using of the assessment scale from 8 hospitals in Zhejiang Province,providing reference for further improvement of the scale.@*Methods@#A cross-sectional study was used to investigate 184 nurses in the department of neonatal intensive care unit admitted to 8 hospitals in Zhejiang Province by using a self-made questionnaire.@*Results@#Three of the eight hospitals did not use scale for neonatal PI assessment routinely. Of the remaining five hospitals, three hospitals used Neonatal Skin Risk Assessment Scale (NSRAS), one hospital used Braden Q Pediatric Skin Risk Assessment Scale (Pediatric Braden Q Scale) and one hospital used Neonatal/Infant Braden Q scale (Neonatal/Infant Braden Q Scale). 129 nurses from 5 hospitals evaluated the scales routinely used by the department.Nearly 93.80% (121/129) of the nurses thought the scales were easy to understand, 76.74% (99/129) of the nurses thought the scales were easy to measure, 76.74% (99/129) of the nurses thought the scales were good at predicting, 75.19% (97/129) of the nurses thought the scales were suitable for newborns, 37.21% (48/129) of the nurses thought the scales did not adequately assess the severity of the condition, 34.11% (44/129) of the nurses thought the scales did not adequately assess the medical device factors, 24.81% (32/129) of the nurses thought the scales scores were not clearly defined.@*Conclusion@#The use of risk assessment scale for neonatal PI has not been unified yet, and the three scales need to be improved. The department should pay attention to the risk assessment of newborn PI and strengthen the awareness of PI prevention.

The current situation of risk assessment and scale applicating of neonatal pressure injury / 中国实用护理杂志

Objective To investigate the current situation of risk assessment of neonatal pressure injury (PI) and using of the assessment scale from 8 hospitals in Zhejiang Province,providing reference for further improvement of the scale. Methods A cross-sectional study was used to investigate 184 nurses in the department of neonatal intensive care unit admitted to 8 hospitals in Zhejiang Province by using a self-made questionnaire. Results Three of the eight hospitals did not use scale for neonatal PI assessment routinely. Of the remaining five hospitals, three hospitals used Neonatal Skin Risk Assessment Scale (NSRAS), one hospital used Braden Q Pediatric Skin Risk Assessment Scale (Pediatric Braden Q Scale) and one hospital used Neonatal/Infant Braden Q scale (Neonatal/Infant Braden Q Scale). 129 nurses from 5 hospitals evaluated the scales routinely used by the department.Nearly 93.80% (121/129) of the nurses thought the scales were easy to understand, 76.74% (99/129) of the nurses thought the scales were easy to measure, 76.74% (99/129) of the nurses thought the scales were good at predicting, 75.19% (97/129) of the nurses thought the scales were suitable for newborns, 37.21%(48/129)of the nurses thought the scales did not adequately assess the severity of the condition, 34.11%(44/129)of the nurses thought the scales did not adequately assess the medical device factors, 24.81% (32/129) of the nurses thought the scales scores were not clearly defined. Conclusion The use of risk assessment scale for neonatal PI has not been unified yet, and the three scales need to be improved. The department should pay attention to the risk assessment of newborn PI and strengthen the awareness of PI prevention.