Objective:To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair (NS-LAH).Methods:A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients′ demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics. Additionally, whole-exome sequencing and Sanger sequencing were utilized to investigate the genetic etiology within the families, and the identified variations were interpreted according to the guidelines of the American College of Medical Genetics and Genomics.Results:Among the 5 NS-LAH patients, there were 3 boys and 2 girls, with ages at diagnosis ranging from 2.3 to 7.7 years old. All patients presented with short stature as a primary complaint. Birth histories were generally unremarkable, though case 2 and 5 of macrosomia were noted. In addition to the characteristic facial features of Noonan syndrome, short stature, and varying degrees of intellectual and motor developmental delay, all 5 patients exhibited sparse hair that was easily shed, as well as enlarged head circumferences. Four patients showed structural cardiac abnormalities, which included a case of hypertrophic cardiomyopathy, 2 cases of atrial septal defect, and 1 case of patent foramen ovale. Genetic analysis revealed heterozygous missense variantion in SHOC2 gene in 4 patients, comprising 3 cases with c.4A>G (p.S2G) and one case with c.519G>C (p.M173I). Additionally, one patient was found to have a heterozygous missense variantion c.146C>G (p.P49R) in PPP1CB gene. Three children were diagnosed with growth hormone deficiency and treated with growth hormone for 1.7, 2.7 and 0.5 years. This resulted in significant improvements in height, with annual increases of 11.8, 8.4 and 13.0 cm, respectively. Among the 4 patients with SHOC2 variantions, 2 developed systemic lupus erythematosus and 1 exhibited symptoms of arthritis.Conclusions:Growth failure is the primary complaint in patients with NS-LAH. Key characteristic findings include enlarged head circumference and sparse, loose hair. Growth hormone deficiency is commonly associated with NS-LAH, and growth hormone therapy is generally effective. Furthermore, patients carrying the classic variantion in SHOC2 (c.4A>G) may have an increased risk of developing autoimmune diseases.

Objective:To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair (NS-LAH).Methods:A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients′ demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics. Additionally, whole-exome sequencing and Sanger sequencing were utilized to investigate the genetic etiology within the families, and the identified variations were interpreted according to the guidelines of the American College of Medical Genetics and Genomics.Results:Among the 5 NS-LAH patients, there were 3 boys and 2 girls, with ages at diagnosis ranging from 2.3 to 7.7 years old. All patients presented with short stature as a primary complaint. Birth histories were generally unremarkable, though case 2 and 5 of macrosomia were noted. In addition to the characteristic facial features of Noonan syndrome, short stature, and varying degrees of intellectual and motor developmental delay, all 5 patients exhibited sparse hair that was easily shed, as well as enlarged head circumferences. Four patients showed structural cardiac abnormalities, which included a case of hypertrophic cardiomyopathy, 2 cases of atrial septal defect, and 1 case of patent foramen ovale. Genetic analysis revealed heterozygous missense variantion in SHOC2 gene in 4 patients, comprising 3 cases with c.4A>G (p.S2G) and one case with c.519G>C (p.M173I). Additionally, one patient was found to have a heterozygous missense variantion c.146C>G (p.P49R) in PPP1CB gene. Three children were diagnosed with growth hormone deficiency and treated with growth hormone for 1.7, 2.7 and 0.5 years. This resulted in significant improvements in height, with annual increases of 11.8, 8.4 and 13.0 cm, respectively. Among the 4 patients with SHOC2 variantions, 2 developed systemic lupus erythematosus and 1 exhibited symptoms of arthritis.Conclusions:Growth failure is the primary complaint in patients with NS-LAH. Key characteristic findings include enlarged head circumference and sparse, loose hair. Growth hormone deficiency is commonly associated with NS-LAH, and growth hormone therapy is generally effective. Furthermore, patients carrying the classic variantion in SHOC2 (c.4A>G) may have an increased risk of developing autoimmune diseases.

OBJECTIVE: To analyze the clinical characteristics and spectrum of SPTB gene variants among 16 Chinese children with Hereditary spherocytosis (HS) and explore their genotype-phenotype correlation. METHODS: Sixteen children who were diagnosed with HS at the Affiliated Hospital of Capital Institute of Pediatrics from November 2018 to July 2022 were selected as the research subjects. Genetic testing was carried out by whole exome sequencing. Candidate variants were verified by Sanger sequencing and subjected to bioinformatic analysis and prediction of 3D structure of the protein. Correlation between the SPTB genotypes and clinical phenotypes was analyzed using Chi-squared test. RESULTS: The male-to-female ratio of the HS patients was 6 : 10, with the median age being 7-year-and-10-month. Clinical features of the patients have included anemia, reticulocytosis and gradual onset of splenomegaly. Mild, moderate and severe anemia have respectively occurred in 56.25% (9/16), 31.25% (5/16) and 12.50% (2/16) of the patients. SPTB gene variants were detected in all patients, among which 10 were unreported previously and 7 were de novo in origin. Loss of function (LOF) variants accounted for 93.75% (15/16). Only one missense variant was detected. Eleven, 4 and 1 of the variants had occurred in the repeat domain, CH1 domain, and dimerization domain, respectively. There was no significant correlation between the type or domain of the SPTB gene variants with the clinical features such as severity of anemia (x² = 3.345, P > 0.05). All of the variants were predicted to be pathogenic or likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION Mild to moderate anemia are predominant clinical features of the HS children harboring a SPTB gene variant, for which LOF variants are the main mutational type. The clinical feature of HS is unaffected by the type of the variants.
Child ; Female ; Humans ; Male ; Computational Biology ; Genetic Testing ; Genomics ; Genotype ; Spherocytosis, Hereditary/genetics* ; East Asian People/genetics* ; Spectrin/genetics*

The competence of scientific research ethnical review in domestic hospital was inadequate,which was associated with the development of medical ethnics,values of Chinese traditional society,unsound domestic laws and regulations,weak administrative management,unqualified committee of medical ethnics,the drive of scientific deriving interests and restriction of project funds.Aiming at the above problems,countermeasures were carried out to strengthen the construction of laws and regulations,strengthen the constraint of administrative management,standardize the self-construction of ethnic committee,implement the standard operative procedure,thus to provide a reference for the standardized construction of scientific research ethnical review.

Objective To explore the application effect of ICU checklist of medical cooperation on prevention of ventilator-associated pneumonia. Methods Totally 728 patients with mechanical ventilation from July 2015 to July 2016 in ICU were assigned to the experimental group with using of the checklist; and 685 patients with mechanical ventilation from June 2014 to June 2015 were set as the control group who did not use the checklist. The incidence of ventilator-associated pneumonia and medical cooperation were compared before and after the implementation of the checklist. Results The incidence of ventilator associated pneumonia were 6.72% (46/685) and 3.02% (22/728), the intervention strategy execution rates were 63.36% (434/685) and 84.89% (618/728) before and after the application of checklist, there was significant difference between two groups (χ2=10.51, 86.03, P<0.01). Medical cooperation (doctors and nurses) and satisfaction scored 18.53 ± 2.39, 21.91 ± 2.16, 30.93 ± 2.18 and 26.71 ± 2.21, 28.64 ± 2.55, 45.33 ± 1.74 before and after the application of checklist, there was significant difference between two groups (t=6.14, 14.25, 2.39, P<0.01 or 0.05). Conclusions The application of checklist can improve the medical cooperation on prevention of ventilator-associated pneumonia management, reduce the incidence of ventilator-associated pneumonia, improve medical cooperation, nursing satisfaction and the management efficiency, which is worthy of popularization and application.

In this paper , based on the analysis of the facing predicament of current situation of medical ethics education , the authors combined with the practice of medical ethics education and the school experience , based on the theory of life education , put forward to experience the activities of public medical treatment building practice of medical students medical ethics education system , promote the educational work to carry out the practice of medical colleges, improve the teaching quality of medical ethics education .

Objective To investigate the therapeutic efficacies for pure galactoma by injecting absolute ethanol compared with the pure pouch cavity puncture separately pulls out the fluid law.Methods Patients of pure galactoma examined by ultrasonography were divided into two groups from March of 2005 to February of 2007 in mammary gland special clinic of our hospital.Absolute ethanol jet method and the pure pouch cavity puncture separately pulls out the fluid law were given respectively and the effect was evaluated within one year after operation.Results Of 89 cases pure galactoma using absolute ethanol jet method,71cases(79.78%)were convalesced,15cases(16.85%)were effective and 3 cases(3.37%)were noneffective.The effectiveness was 96.63 %.Of 86 cases using pure pouch cavity puncture separately pulls out the fluid law,44cases(51.16%)were convalesced,33 cases(38.37%)were effective and 9 cases(10.47%)were noneffective.The effectiveness was 89.53%.The cured rates of two groups had significant difference through chi-square test,?2=15.38,P