Objective:To investigate the medical narrative competence of pediatric staff, and analyze its influencing factors and correlation with psychological resilience, and to discuss strategies to improve narrative competence.Methods:From January 11 to February 25, 2022, by convenience sampling, we sampled pediatric personnel and those on refresher training at Children's Hospital, Zhejiang University School of Medicine for a questionnaire survey involving general information, the narrative competence scale, and the 14-item resilience scale. With the use of SPSS 26.0, the narrative competence of different populations was compared, and factors affecting narrative competence were determined through Pearson correlation analysis and multiple regression analysis.Results:A total of 361 valid questionnaires were included in this study, and there was significant differences in the narrative competence score between different ages, professional titles, working years, income levels, and whether they wrote parallel charts ( P<0.05). The total score of narrative competence of pediatric staffs was (147.13±18.76), and positively correlated with the total resilience score and the score of each dimension ( P≤0.001). The regression analysis showed that writing parallel charts and resilience could explain 53.10% of the variation in narrative competence ( P<0.001). Conclusions:Pediatric staff's narrative competence is at low or intermediate levels. Parallel chart writing and resilience training can improve narrative competence and promote a harmonious doctor-patient relationship.

OBJECTIVE: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS). METHODS: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2). CONCLUSION The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Child ; Family ; Female ; Humans ; Mutation ; RecQ Helicases/genetics* ; Rothmund-Thomson Syndrome/genetics* ; Whole Exome Sequencing

The growth plate (cartilage tissue) is the key to bone development and linear growth.However, as the adolescence proceeds, the proliferation capacity of the growth plate will be continuously consumed, and finally the growth plate will be closed.A variety of regulatory factors control chondrocyte proliferation and differentiation through different mechanisms.Endocrine regulators (including growth hormone, insulin-like growth factor, thyroxine, sex hormone, glucocorticoid, etc.) and transcription factors play an important role in regulating the development of growth plates through systematic modulation.In addition, such local regulatory factors as Indian hedgehog protein, parathyroid hormone-related peptide, bone morphogenetic protein and fibroblast growth factor also regulate the development of the growth plate.In this paper, the regulatory mechanism for chondrocyte proliferation and differentiation was summarized.

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder, which is characterized by adrenal insufficiency and 46, XY sex reversal. Two cases of CLAH with 46, XY karyotype exhibited male external genitalia were reported to explore the clinical and genetic features. A retrospective analysis of CLAH with relevant literatures was performed.

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Objective:To investigate the status of height and weight of 3-18-year-old children and adolescents in urban China, and to provide a basis for establishing puberty phase specific curves for age-specific height and age-specific weight.Methods:A cross-sectional survey of 218 185 children and adolescents aged 3-18 years in urban China was conducted by using the method of stratified random cluster sampling from January 2017 to December 2019. The sampling areas included 12 provinces municipalities in China and autonomous regions in total. Data were collected on weight, height, waist circumference, hip circumference and secondary sexual characteristics. The generalized additive model for location, scale, and shape (GAMLSS) was employed to establish percentile reference values and growth curves of height and weight for boys and girls aged 3-18 years. Wilcoxon rank sum test was applied to compare the P 50 value of height and weight between children of each Tanner stage and children of the same age ignoring the different puberty phase. Results:The 3rd, 50th, and 97th percentile curves for height and weight for age were developed for boys and girls aged 3-18 years. The 3rd, 50th, and 97th percentile curves for age-specific height and age-specific weight for each puberty phase were developed for boys and girls. Compared with all children ignoring the different puberty phase, boys aged 9 and over and girls aged 7 and over who are at Tanner stage 1 showed shorter height and lighter weight than those of the same age group (all P<0.01), the difference ranges of height at P 50 are -4.0 to -0.6 cm for boys, and -4.4 to 0.5 cm for girls; the difference ranges of weight are -4.8 to 0.4 kg for boys, and -4.0 to -0.3 kg for girls; children at Tanner stage 2 & 3 initially were taller and heavier than those of the same age group; and later grew shorter and lighter than those of the same age group, the two sets of curves cross over; boys aged 16 and under and girl aged under 14 who are at Tanner stage 4 were taller and heavier than those of the same age group (all P<0.01), the difference ranges of height at P 50 are 0.2 to 10.0 cm for boys, and 0.2 to 9.4 cm for girls; the difference ranges of weight at P 50 are 0.7 to 10.9 kg for boys, and 1.0 to 11.2 kg for girls, and the differences showed narrowing trend with age. Conclusion:The puberty phase specific growth curves of age-specific height and age-specific weight for boys and girls aged 3-18 years are established, it is useful for clinical work to evaluate physical development of children at different puberty phases.

Gonadotropin-releasing hormone (GnRH) dependent precocious puberty/central precocious puberty (GDPP/CPP) is one of the common diseases of the pediatric endocrine system.CPP is mainly treated with gonadotropin-releasing hormone analogues (GnRHa) internationally.They slow the progression of bone age and improve adult height in children with CPP by inhibiting the activity of the hypothalamic-pituitary-gonadal axis and the secretion of sex hormones.In clinical practice, the populations who benefit from GnRHa treatment and the best GnRHa treatment plan still need to be investigated, and the long-term efficacy and safety evidence of GnRHa should be further improved.

To report the process of diagnosis and treatment of 1 case with SRY gene mutation of 46, XY complete gonadal dysplasia, and to discuss the clinical characteristics, diagnosis and treatment of the disease.Due to clitoral enlargement for 8 months, a 9 years old girl was admitted to the Children′s Hospital Affiliated to Zhejiang University School of Medicine.Previously, she had early breast development, and suffered from high gonadotropin expression when she was 6 years and 4 months old.Physical examination: breast B3 stage, female vulva, clitoris hypertrophy, normal urethra, normal vaginal opening, slightly thick hymen ring, the development of pubic hair was 2 stages, and Prader score level 1.Laboratory data showed elevated levels of estradiol, testosterone, and human chorionic gonadotrophin.Genetic examination revealed that the chromosome karyotype was 46, XY and SRY gene detection was positive.Therefore, the patient was diagnosed with 46, XY complete gonadal dysplasia.Bilateral gonadectomy was performed, and the posto-perative pathological diagnosis was bilateral gonadoblastoma with left dysgerminoma.The tumor did not recur after che-motherapy.The etiology of early breast development needs to be carefully identified.Patients with sexual characteristics dysplasia need to accept the chromosome karyotype analysis and gene detection, and surgical exploration should be performed when necessary for a correct diagnosis as soon as possible.

Objective:To analyze the patients′ clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes.Methods:Twenty PHP patients were ascertained at Children′s Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed.Results:In these twenty patients, eighteen cases showed resistance to parathyroid hormone (PTH) and thirteen cases had Albright′s hereditary osteodystrophy (AHO) phenotype. Gene abnormalities were found in all the twenty PHP patients, which included seven patients with GNAS gene variations (six frameshifts and one missense) and thirteen patients with GNAS gene methylation defects. Moreover, twelve children with both PTH resistance and AHO phenotype were clinically diagnosed as PHP-Ⅰa, meanwhile, seven carried GNAS variations and five had methylation abnormalities with a correct diagnosis of PHP-Ⅰb.Conclusions:Patients with AHO phenotype and PTH resistance may have a high genetic diagnosis rate. Because PHP-Ⅰb clinical phenotype may be similar to PHP-Ⅰa, early genetic detection is required for the differential diagnosis. In addition, children without PTH resistance should also be followed up regularly, which may help the early diagnosis.

OBJECTIVE: To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity. METHODS: High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene. RESULTS: DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother. CONCLUSION The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.