OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056). RESULTS: The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered. CONCLUSION Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child ; Humans ; Male ; 46, XX Disorders of Sex Development/genetics* ; DNA Copy Number Variations ; Gene Duplication ; Phenotype ; SOXB1 Transcription Factors/genetics*

OBJECTIVE: To analyze the clinical and genetic characteristics of a Chinese pedigree affected with congenital Isolated growth hormone deficiency (IGHD). METHODS: A pedigree presenting with Pituitary stalk interruption syndrome (PSIS) (including the proband, his two younger sisters and both parents) who had visited the Capital Institute of Pediatrics Affiliated to Capital Medical University in September 2020 was selected as the study subject. Clinical data were collected. Peripheral blood samples were collected from the proband and his family members. Following the extraction of genomic DNA, whole-exome sequencing (WES) was carried out, and candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was classified based on guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the Institute Pediatrics of Capital Medical University (Ethics No.: SHERLL2025033). RESULTS: The proband and one younger sister (Ⅱ3) presented with growth retardation, short stature, and a doll-like facies. Another younger sister (Ⅱ2) and both parents had normal heights and appearance. Sanger sequencing confirmed that the proband and his younger sister (Ⅱ3) both harbored compound heterozygous variants of the GHRHR gene, namely c.776C>A (p.T259K) and c.1166G>A (p.R389Q). The other younger sister (Ⅱ2) and the parents were heterozygous carriers. The c.1166G>A (p.R389Q) variant was unreported previously. Based on the guidelines from the ACMG, it was classified as variant of uncertain significance (PM2_Supporting+BP4). Bioinformatics analysis indicated a deleterious effect on the protein function. CONCLUSION Variants of the GHRHR gene probably underlay the pathogenesis of IGHD in this pedigree. Above finding has provided a basis for the clinical diagnosis and genetic counseling for this family.
Child ; Female ; Humans ; Male ; China ; Dwarfism, Pituitary/genetics* ; Exome Sequencing ; Human Growth Hormone/deficiency* ; Mutation ; Pedigree ; Receptors, Neuropeptide/genetics* ; Receptors, Pituitary Hormone-Regulating Hormone/genetics* ; East Asian People/genetics*

To analyze the clinical characteristics and follow-up data of Chinese patients with calcium-sensing receptor (CaSR) signaling pathway related hypercalcemia. A retrospective analysis was conducted on six children with hypercalcemia admitted to Department of Endocrinology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to November 2022. Summarized the clinical and pathogenic variants, as well as follow-up data. The results showed that 3 were female and 3 were male of the 6 cases, aged from 2 months to 8 years at the consultation. The clinical symptoms varied from asymptomatic hypercalcemia to vomiting, dehydration, and growth retardation,as well as epilepsy and intellectual disability. Except for 1 case, which showed a significant increase in blood calcium (4.63 mmol/L), the blood calcium of other cases ranged from 2.98 to 3.17 mmol/L. Among the 6 patients, 5 had elevated parathyroid hormone, and 1 was normal. Three cases showed a significant decrease in 24-hour urinary calcium to creatinine ratio. Whole exome sequencing revealed that one patient had compound heterozygous variants and four had a heterozygous variants of CaSR gene, one patient had a heterozygous variant of AP2S1 gene. 1 case underwent total parathyroidectomy, followed by calcium supplementation, 3 cases received salmon calcitonin treatment, and 2 cases accepted low calcium diet, blood calcium levels were all controlled well. In conclusion, CaSR signaling pathway related hypercalcemia is rare. Gene detection is essential for children with hypercalcemia. Familial hypocalcemia hypercalcemia (FHH) can be effectively treated with salmon calcitonin.

Ferroptosis is regarded as a novel and regulatable form of cell death, with its main characteristics being abnormal iron metabolism and the accumulation of lipid peroxides. Although there have been breakthroughs in the research of ferroptosis in tumors and degenerative diseases, its research in skin diseases is relatively scarce. Starting from the development of the concept of ferroptosis, this article expounds the basic characteristics and regulatory mechanisms of ferroptosis. In the field of skin diseases, we emphasize the importance of ferroptosis and discuss in detail the research and application of ferroptosis in various skin diseases, aiming to provide effective guidance for the treatment and clinical practice of various skin diseases, and offer new ideas for the future research direction of skin diseases.

To analyze the clinical characteristics and follow-up data of Chinese patients with calcium-sensing receptor (CaSR) signaling pathway related hypercalcemia. A retrospective analysis was conducted on six children with hypercalcemia admitted to Department of Endocrinology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to November 2022. Summarized the clinical and pathogenic variants, as well as follow-up data. The results showed that 3 were female and 3 were male of the 6 cases, aged from 2 months to 8 years at the consultation. The clinical symptoms varied from asymptomatic hypercalcemia to vomiting, dehydration, and growth retardation,as well as epilepsy and intellectual disability. Except for 1 case, which showed a significant increase in blood calcium (4.63 mmol/L), the blood calcium of other cases ranged from 2.98 to 3.17 mmol/L. Among the 6 patients, 5 had elevated parathyroid hormone, and 1 was normal. Three cases showed a significant decrease in 24-hour urinary calcium to creatinine ratio. Whole exome sequencing revealed that one patient had compound heterozygous variants and four had a heterozygous variants of CaSR gene, one patient had a heterozygous variant of AP2S1 gene. 1 case underwent total parathyroidectomy, followed by calcium supplementation, 3 cases received salmon calcitonin treatment, and 2 cases accepted low calcium diet, blood calcium levels were all controlled well. In conclusion, CaSR signaling pathway related hypercalcemia is rare. Gene detection is essential for children with hypercalcemia. Familial hypocalcemia hypercalcemia (FHH) can be effectively treated with salmon calcitonin.

Objective To construct a theoretical model of venous thromboembolism(VTE)risk perception in pregnant women,so as to provide a scientific basis for promoting pregnant women to form a correct risk perception of VTE and actively take preventive behaviors.Methods A qualitative research approach guided by the procedural grounded theoiy was adopted.Data were collected by a semi-structured deep interview on 18 pregnant women who received prenatal examination in the outpatient department of a tertiary A obstetrics and gynecology hospital in Nanjing from June to July 2023,and the data were analyzed by three-level coding and continuous comparison method.Results The VTE risk perception of pregnant women was affected by 6 factors including social coupling system,self health status,life behavior habits,knowledge on disease,compliance behavior and emotional stimulation.Pregnant women perceived VTE risk from 3 aspects:threats to maternal and child safety,increased family economic burden and increased time cost,impact on social roles.Thus,3 health behavior decisions were formed,including taking preventive behaviors,overcoming implementation barriers,and seeking knowledge behaviors,in order to reduce their own risk of VTE,and prevent the occurrence of VTE.Conclusion The theoretical model of VTE risk perception of pregnant women can guide medical staff to comprehensively consider the influencing factors of VTE risk perception of pregnant women,optimize the form and content of VTE health education,give pregnant women individualized and sustainable VTE prevention guidance,and strengthen pregnant women's perception of VTE risk and the benefits of preventive behavior,so as to actively take the correct health behavior decisions.

Objective To explore the dyad coping experience of stress in pregnant women with undifferentiated connective tissue disease and their spouses,providing a basis for developing dyadic coping intervention measures.Methods By purposive sampling,15 pairs of pregnant women and their spouses who visited the outpatient clinic for pregnancy complicated with immune diseases in a matemity hospital in Jiangsu Province from April to August 2023 were selected as the research subjects for semi-structured interviews.Content analysis was conducted using the Colaizzi 7-step method,and an interview outline and integrated themes were developed based on the Developmental Contextual Coping Model.Results 3 themes(coexistence of positive and negative stress experiences;diverse approaches to dyadic coping with stress;growth and challenges following stress adaptation)and 11 subthemes were identified.Conclusion Healthcare professionals should attach importance to the stress coping issues of pregnant women with undifferentiated connective tissue disease and their spouses,take measures to regulate the negative emotions of couples,ensure multi-faceted support,help the couple adopt positive coping strategies,and promote good stress adaptation.

Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is an extremely rare, indolent skin malignancy that can be difficult to distinguish from autoimmune disease-associated panniculitides. Here, we describe a 12-year-old boy who was diagnosed at age 7 years with dermatomyositis with classical manifestations, including poikiloderma, Gottron’s sign, and symmetric muscle weakness. Recently, the boy presented multiple subcutaneous nodules and fever. Histopathological examination and immunohistochemical staining revealed coexistence of SPTL. To our knowledge, this is the first case of dermatomyositis accompanied with SPTL. This case alert clinical physicians of the possibility of SPTL should be considered when a patient with dermatomyositis has new lesions presenting as nodules and unknown fever.

Objective:To develop an inquiry learning community centered on learning experience in the course of Nursing Clinical Comprehensive Experiment to verify the influence of this teaching mode on the learning gains and practical ability of nursing students. Methods:A total of 132 undergraduate nursing students form grade 3 in Chongqing Medical University were enrolled. The participants were randomly assigned to a learning community group ( n = 69) and a control group ( n = 63) using Minitab 14.0 software. The students in the learning community group adopted the inquiry learning community mode in accordance with the curriculum map for online self-learning, group discussion and skills practice, while the control group received the teacher-led teaching mode for offline theory teaching, operation teaching and skills practice. After the teaching intervention, both groups of students received the assessment questionnaire of learning gains and the comprehensive experimental ability evaluation. Chi-square test or paired t-test was performed using SPSS 23.0. Results:Compared with the control group, students in the learning community group reported that their sense of learning gain was enhanced ( P<0.001, Cohen d=0.97); sub-items showed that the effect size for the understanding of learning content ( P<0.001, Cohen d=1.22), the overall course situation ( P<0.001, Cohen d=0.90), the course activities ( P=0.000, Cohen d=0.83), and the information obtained ( P<0.001, Cohen d=1.16) was significantly different. The total score of practical ability of comprehensive experiment was significantly improved ( P = 0.005, Cohen d=0.51), in which the experimental situation displays ( P=0.002, Cohen d=0.55) and experimental effect ( P=0.006, Cohen d=0.49) were better than the control group. There was no significant difference in the performance of experimental preparation and case analysis between the two groups. Conclusion:Developing an inquiry learning community in nursing clinical comprehensive experiment can effectively enhance student' sense of learning gains and promote the improvement of clinical practical ability.

Objective:To investigate the epidemiology of pathogens of acute respiratory tract infection (ARTI) in children in Guangzhou area.Methods:A total of 13 610 hospitalized children with ARTI in Guangzhou Women and Children′s Medical Center from January 2018 to December 2021 were enrolled. Throat swab specimens were collected, and fluorescent quantitative polymerase chain reaction (PCR) was performed to detect 11 respiratory pathogens, including respiratory syncytial virus (RSV), adenovirus (ADV), parainfluenza virus (PIV), human rhinovirus (HRV), human bocavirus (HBoV), human metapneumovirus (HMPV), enterovirus (EV), influenza A virus (IFA), influenza B virus (IFB), Mycoplasma pneumoniae (MP) and Chlamydia pneumoniae (CP). Grouping according to age (< one year group, one to < three years group, three to < six years group, six to 14 years group) and season. Chi-square test was used for statistical analysis. Results:At least one pathogen was detected in 6 331 cases among 13 610 patients, and the overall positive rate was 46.52%. The detection rates from high to low were as follows: RSV (13.75%(1 872/13 610)), ADV (4.82%(656/13 610)), PIV (4.82%(656/13 610)), MP (4.54%(618/13 610)), HRV (3.39%(462/13 610)), HBoV (2.64%(359/13 610)), HMPV (2.59%(352/13 610)), EV (1.76%(239/13 610)), IFA (1.29%(176/13 610)), IFB (0.90%(122/13 610)) and CP (0.30%(41/13 610)). The positive rate of viral detection showed significant differences among different age groups ( χ2=49.91, P<0.001), and the highest positive rate was in the age group of one to