Objective: To explore the correlation between depression severity and neurocognitive function in patients with late-onset depression . Methods: The patients with late-onset depression treated in Jinhua Second hospital from February 2015 to December 2017 were assigned into the mild,moderate and severe groups according to the severity of depression assessed by the Hamilton Depression Scale-17（HAMD-17）. At the same time,some healthy persons were selected as the control group. Wisconsin Card Sorting Test（WCST）,Verbal Fluency Test（VFT）and Stroop Test were carried out,and the scores of these tests were compared in the four groups. The correlations of WCST, VFT, Stroop Test and HAMD-17 scores were analyzed . Results: There were 32,28,35 and 35 subjects involved in the mild,moderate,severe and control group,respectively. The subjects of the mild group,moderate group and severe group had more total errors,perseverative responses and perseverative errors than the control group,and less percent conceptual level responses than the control group （all P<0.05）. The total errors,perseverative responses,perseverative errors and percent perseverative errors increased and the percent conceptual level responses decreased gradually with the severity of depression（all P<0.05）. The correct numbers of Stroop-consistent group and VFT in the severe group were less than those in the control,mild and moderate group（all P<0.05）,which was significantly different between the mild,moderate and control group （P>0.05）. The HAMD-17 scores were negatively correlated with the correct numbers of Stroop congruent group（r=-0.448,P<0.001）and VFT（r=-0.401,P<0.001）,and were positively correlated with perseverative responses in the WCST（r=0.784,P<0.001） . Conclusion The neurocognitive impairment in patients with late-onset depression aggravated with the severity of depression.

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.
Humans ; Fetus/abnormalities* ; Chromosomes, Human, Pair 8 ; Female ; Pregnancy ; Karyotyping

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.

Objective: To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia. Methods: Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing. Results: The proband was found to carry a heterozygous c. 2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines. Conclusion The heterozygous variant of c. 2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.