OBJECTIVE: To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS). METHODS: For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes. RESULTS: The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls. CONCLUSION The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.
Biomarkers ; Bone and Bones ; Child ; Collagen Type I/genetics* ; Genotype ; Gitelman Syndrome ; Humans ; Osteocalcin/genetics* ; Peptide Fragments ; Solute Carrier Family 12, Member 3

OBJECTIVE: To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation. METHODS: The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father. CONCLUSION The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.
Child ; Disorder of Sex Development, 46,XY/genetics* ; Disorders of Sex Development/genetics* ; Exons/genetics* ; Female ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Steroidogenic Factor 1/genetics*

Objective:To investigate the current situation and influencing factors of humanistic care needs of family members of pregnant women in maternal intensive care unit, and to explore the relationship between humanistic care needs of family members of pregnant women in maternal intensive care unit, relocation stress level and perceived social support ability, so as to provide a basis for clinical nursing staff to implement targeted humanistic care for family members of pregnant women in maternal intensive care unit.Methods:From July to December 2022, 267 family members of pregnant women who were observed in the Maternal Intensive Care Unit of Maternity Hospital Affiliated to Nanjing Medical University/Nanjing Maternal and Child Health Hospital were selected as the research objects by the convenient sampling method. The general information questionnaire, Humanistic Care Needs Scale for Family Members of Pregnant Women in the Obstetric Intensive Care Unit, Family Relocation Stress Scale for Intensive Care Unit Patients and Perceived Social Support Scale were used to carry out a cross sectional investigation.Results:The scores of humanistic care needs, relocation stress scale and perceived social support scale were (175.32 ± 16.04), (35.12 ± 8.11), (57.30 ± 15.43) points, respectively. The length of maternal intensive care unit stay ( B=1.301, P<0.05), the family′s role changed for the first time ( B=2.328, P<0.05), the delivery mode doesn′t match the family′s expectations ( B=-2.407, P<0.05), maternal admission to maternal intensive care unit due to childbirth complications ( B=3.228, P<0.05), relocation stress level of intensive care unit patients′ family members ( B=0.891, P<0.05), and family members′ perceived social support ability ( B=0.461, P<0.05) were the influencing factors of humanistic care needs of maternal family members in maternal intensive care unit factors, which explained 83.2% of the total variation. Conclusions:The humanistic care needs of family members of pregnant women in maternal intensive care unit are at a high level. Medical staff should pay more attention to the family members of pregnant women who stay in maternal intensive care unit for a long time, undergo role change for the first time, have unexpected delivery mode and stay in maternal intensive care unit due to childbirth complications, so as to provide them with more comprehensive humanistic care and establish multiple support system, in order to improve the level of humanistic care for the family members of maternal intensive care unit.

We investigated the prevalence and genetic variation of porcine pseudorabies virus(PRV)in Hunan Province.A total of 18 861 serum samples and 1 725 suspected PRV-infected tissue sam-ples were collected from Hunan Province from 2021 to 2022.ELISA and qPCR assays were used to detect PRV-gE antibodies in serum samples and the PRV-gE nucleic acids in tissue samples.The positive rates of samples in different years and seasons were analyzed correspondingly.Moreover,the gC gene sequences of 15 PRV-positive samples were amplified,sequenced,and analyzed.The results showed that 2 004 serum and 56 tissue samples tested positive,with an average positive rate of 10.74％and 3.25％,respectively.The sequence analysis showed that the nucleotide and ami-no acid sequence identities of the gC gene among 15 PRV-positive samples were 98.4％-100.0％and 98.8％-100.0％,respectively.Further genetic evolution analysis showed that 13 PRV strains belonged to the same branch with the PRV variants,while two strains were clustered into the same branch with the classical PRV strains.The above results indicate that PRV remains widely prevalent in different regions of Hunan Province,and the variant strain is the dominant epi-demic subtype,which provided a scientific basis for exploring the epidemiological characteristics of PRV and the development of vaccines against PR in Hunan Province.