Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

BACKGROUND: Delivery room resuscitation assists preterm infants, especially extremely preterm infants (EPI) and extremely low birth weight infants (ELBWI), in breathing support, while it potentially exerts a negative impact on the lungs and outcomes of preterm infants. This study aimed to assess delivery room resuscitation and discharge outcomes of EPI and ELBWI in China. METHODS: The clinical data of EPI (gestational age [GA] <28 weeks) and ELBWI (birth weight [BW] <1000 g), admitted within 72 h of birth in 33 neonatal intensive care units from five provinces and cities in North China between 2017 and 2018, were analyzed. The primary outcomes were delivery room resuscitation and risk factors for delivery room intubation (DRI). The secondary outcomes were survival rates, incidence of bronchopulmonary dysplasia (BPD), and risk factors for BPD. RESULTS: A cohort of 952 preterm infants were enrolled. The incidence of DRI, chest compressions, and administration of epinephrine was 55.9% (532/952), 12.5% (119/952), and 7.0% (67/952), respectively. Multivariate analysis revealed that the risk factors for DRI were GA <28 weeks (odds ratio [OR], 3.147; 95% confidence interval [CI], 2.082-4.755), BW <1000 g (OR, 2.240; 95% CI, 1.606-3.125), and antepartum infection (OR, 1.429; 95% CI, 1.044-1.956). The survival rate was 65.9% (627/952) and was dependent on GA. The rate of BPD was 29.3% (181/627). Multivariate analysis showed that the risk factors for BPD were male (OR, 1.603; 95% CI, 1.061-2.424), DRI (OR, 2.094; 95% CI, 1.328-3.303), respiratory distress syndrome exposed to ≥2 doses of pulmonary surfactants (PS; OR, 2.700; 95% CI, 1.679-4.343), and mechanical ventilation ≥7 days (OR, 4.358; 95% CI, 2.777-6.837). However, a larger BW (OR, 0.998; 95% CI, 0.996-0.999), antenatal steroid (OR, 0.577; 95% CI, 0.379-0.880), and PS use in the delivery room (OR, 0.273; 95% CI, 0.160-0.467) were preventive factors for BPD (all P < 0.05). CONCLUSION Improving delivery room resuscitation and management of respiratory complications are imperative during early management of the health of EPI and ELBWI.
Birth Weight ; Bronchopulmonary Dysplasia ; China/epidemiology* ; Delivery Rooms ; Female ; Gestational Age ; Humans ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Extremely Premature ; Infant, Newborn ; Male ; Pregnancy

Objective: Several COVID-19 patients have overlapping comorbidities. The independent role of each component contributing to the risk of COVID-19 is unknown, and how some non-cardiometabolic comorbidities affect the risk of COVID-19 remains unclear. Methods: A retrospective follow-up design was adopted. A total of 1,160 laboratory-confirmed patients were enrolled from nine provinces in China. Data on comorbidities were obtained from the patients' medical records. Multivariable logistic regression models were used to estimate the odds ratio ( Results: Overall, 158 (13.6%) patients were diagnosed with severe illness and 32 (2.7%) had unfavorable outcomes. Hypertension (2.87, 1.30-6.32), type 2 diabetes (T2DM) (3.57, 2.32-5.49), cardiovascular disease (CVD) (3.78, 1.81-7.89), fatty liver disease (7.53, 1.96-28.96), hyperlipidemia (2.15, 1.26-3.67), other lung diseases (6.00, 3.01-11.96), and electrolyte imbalance (10.40, 3.00-26.10) were independently linked to increased odds of being severely ill. T2DM (6.07, 2.89-12.75), CVD (8.47, 6.03-11.89), and electrolyte imbalance (19.44, 11.47-32.96) were also strong predictors of unfavorable outcomes. Women with comorbidities were more likely to have severe disease on admission (5.46, 3.25-9.19), while men with comorbidities were more likely to have unfavorable treatment outcomes (6.58, 1.46-29.64) within two weeks. Conclusion Besides hypertension, diabetes, and CVD, fatty liver disease, hyperlipidemia, other lung diseases, and electrolyte imbalance were independent risk factors for COVID-19 severity and poor treatment outcome. Women with comorbidities were more likely to have severe disease, while men with comorbidities were more likely to have unfavorable treatment outcomes.
Adult ; Aged ; COVID-19/virology* ; China/epidemiology* ; Comorbidity ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Severity of Illness Index ; Treatment Outcome

Hepatitis B virus (HBV) capsid protein plays an important role in the life cycle, thus becoming an ideal target for drug design. Capsid protein inhibitors can exert a synergistic antiviral effect with nucleoside drugs by inhibiting the replication of HBV. This paper reviews the research progress of capsid protein inhibitors with different structural types from the perspective of medicinal chemistry.

Hepatitis B has become one of the major diseases which seriously affect people's health and social development. Hepatitis B, with high incidence and long disease course, cannot be cured by approved drugs such as the nucleoside analogues. Therefore, the discovery of safe and efficient novel HBV inhibitors is of great significance. From the point of view of medicinal chemistry, we summarized and discussed current endeavours towards the discovery and development of anti-HBV agents of RNase H and other novel target inhibitors with various scaffolds or distinct mechanisms of action, besides the existing capsid protein inhibitors.

Objective To know about knowledge about prevention and treatment of venous thromboembolism (VTE) in nurses from tertiary hospitals in China,and to analyze influencing factors to provide guidance for nursing of VTE. Methods A questionnaire survey was conducted among 5279 nurses from 80 tertiary hospitals in 29 provinces (municipalities,and autonomous regions). Results The average score of knowledge about VTE prevention and treatment in nurses was 61.26%. The knowledge was obviously unbalanced. Nurses had poor knowledge of elastic stockings and injection of prefilling anticoagulant drugs. The scores were high for nurses who were over 30 years old, had worked for more than 10 years, and had higher titles. Conclusion Currently knowledge about pre-vention and treatment of VTE in nurses in our country is not ideal,and there is imbalance in knowledge. Training is still an effective approach. There should be standardized training according to level of knowledge of nurses.

Objective To examine the effects of application of ultrasonography guided water injection for inser-tion of naso-jejunal tubes. Methods Hospitalized patients in ICU who needed naso-jejunal tubes were recruited from one tertiary hospital in Beijing from November 2016 to April 2017. Ultrasonography guided water injection was used to assist insertion of naso-jejunal tubes. Meanwhile,we conducted semi-structured interviews to learn feel-ings and suggestions from the patients. Results A total of 40 patients were included in this study,37 patients (92.5%) were successfully inserted with the tubes at the first attempt. The duration of insertion of naso-jejunal tubes was 25 (20,38.75) min. Conclusion Ultrasonography guided water injection is a simple and convenient method to guide the placement of naso-jejunal tubes for critical ill patients,which provides guarantee for early en-teral nutrition.

AIM: To explore the nursing cooperation highlights of eight osteopetrosis patients underwent optic nerve decompression via transsphenoidal microsurgical approach instead of routine pathway, and to improve the quality of nursing cooperation. ·METHODS: We enrolled 8 cases ( left eye in 3 cases, right eye in 5 cases ) of osteopetrosis patients referred from the Eye Hospital of Wenzhou Medical University during February 2012 to November 2016. Patients received ophthalmic examinations including visual acuity and diagnostic imaging tests in pre-operation and post -operation. All eyes were performed surgical optic nerve decompression through endoscopic approach in assist of image guidance system. We retrospectively analyzed the clinical data and surgical cooperation procedure of these cases and summarized nursing cooperation experience. ·RESULTS:The operations of 8 patients were completed successfully without massive hemorrhage. Mean visual acuity improved from pre-operation (2. 5±2. 1) to post-operation (3. 4±1. 9). Cerebrospinal fluid leakage occurred in 1 patient and was instantly repaired during the operation. We performed the nursing strategy as postural drainage, condition monitoring and conscious assessment intra-and post-operation. ·CONCLUSION: It is the critical for this kind of surgery that both circulating nurse's high-skilled cooperation to the connection and operation of the navigation system, to treat with complication during the surgery, and scrub nurse's sufficient preparation of surgical instruments and consumables, proficient equipment delivery, meticulous management, use and maintenance of equipment.

In order to better regulate nursing work of venous thromboembolism(VTE) prevention in the hospital,and provide standardized VTE care for hospitalized patients,in 2012,our nursing department established the VTE specialist nursing group.Group members were provided "three steps" training.They performed VTE risk assessment and prevention,and conducted disease management of patients with VTE in hospital.Through development of specialist nursing group,nurses' knowledge of VTE was improved from 53.48±11.56 to 58.36-±14.68,and patients were provided standardized VTE nursing care,which was of great significance to promote the management of VTE in the hospital.

OBJECTIVETo investigate the effect of human umbilical cord-derived mesenchymal stem cells(HUC-MSC) on the proliferation and differentiation of NB4 treated with all-trans retinoid acid (ATRA) and its underlining mechanisms .

METHODSHuman umbilical cord mesenchymal stem cells were isolated from umbilical cord of newborns. Co-culture system was established by HUC-MSC and NB4 in vitro. The experiment was divided into 4 groups: NB4 group (NB4 cells alone) , NM group (NB4 cells co-cultured with HUC-MSC) , NA group (NB4 cells treated with ATRA) , NMA group (NB4 cells co-cultured with HUC-MSC and treated with ATRA) . NB4 cells were counted by a microscopy, NB4 proliferation was monitored by CCK-8 assay, NB4 differentiation was assessed by Wright ' s staining and nitroblue tetrazolium reduction test. IL-6 levels in the culture supernatant of different groups were tested by ELISA kit. Quantitative PCR was used to detect the transcription level of CDKN1A, CCND1 and Survivin.

RESULTSNB4 and HUC-MSC in the co-culturing systems were in good condition with a slight repression of NB4 proliferation by HUC-MSC. HUC-MSC could collaborate with ATRA to induce significant NB4 differentiation. Consistent with this finding, IL-6 expression levels of co-cultured groups were remarkably higher than that in any other groups or the group of HUC-MSC alone. The quantitative PCR analysis showed that the levels of CDKN1A and CCND1 mRNA expression were increased or decreased respectively in the co-cultured groups.

CONCLUSIONHUC-MSC co-culture can reduce proliferation but promote the differentiation of NB4 cells, suggesting that this effect may be closely related with the secretion of IL-6 which can affect the expression of some factors in vitro.