OBJECTIVE: To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases. METHODS: A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). RESULTS: Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%). CONCLUSION Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.
Child ; Infant, Newborn ; Humans ; Female ; Prospective Studies ; Connexins/genetics* ; Connexin 26/genetics* ; Glucosephosphate Dehydrogenase Deficiency ; Mutation ; Sulfate Transporters/genetics* ; DNA Mutational Analysis ; Genetic Testing/methods* ; Deafness/genetics* ; Neonatal Screening/methods* ; Hearing Loss, Sensorineural/genetics* ; High-Throughput Nucleotide Sequencing ; Solute Carrier Family 22 Member 5/genetics*

The incidence rate of anxiety and depression is significantly higher in patients with inflammatory bowel diseases (IBD) than in the general population. The mechanisms underlying dextran sulfate sodium (DSS)-induced depressive-like behaviors are still unclear. We clarified that IBD mice induced by repeated administration of DSS presented depressive-like behaviors. The paraventricular thalamic nucleus (PVT) was regarded as the activated brain region by the number of c-fos-labeled neurons. RNA-sequencing analysis showed that lipocalin 2 (Lcn2) was upregulated in the PVT of mice with DSS-induced depressive behaviors. Upregulating Lcn2 from neuronal activity induced dendritic spine loss and the secreted protein induced chemokine expression and subsequently contributed to microglial activation leading to blood-brain barrier permeability. Moreover, Lcn2 silencing in the PVT alleviated the DSS-induced depressive-like behaviors. The present study demonstrated that elevated Lcn2 in the PVT is a critical factor for DSS-induced depressive behaviors.
Mice ; Humans ; Animals ; Lipocalin-2/genetics* ; Midline Thalamic Nuclei ; Brain ; Inflammatory Bowel Diseases ; Proto-Oncogene Proteins c-fos ; Mice, Inbred C57BL

Objective:To understand the status of menopause outpatient clinics in maternal and children health (MCH) institutions and general hospitals.Methods:A total of 314 health administrative departments, MCH health institutions and general hospitals in 11 provinces of China were enrolled by using multi-stage random sampling method. A self-made questionnaire was used to investigate the development of normative documents for menopausal health work, and the establishment, services, health resources, system and information management of menopause outpatient clinics. The current situation of menopause outpatient clinics in MCH institutions was compared with that in general hospitals.Results:All health administrative departments did not formulate normative documents for menopausal health care. Among MCH health institutions and general hospitals, 53.4% (111/208) established menopause outpatient clinic. About 60.9% (64/105) of MCH institutions established menopause outpatient clinic, which was higher than that of general hospitals [45.6% (47/103)] ( P<0.05). From high priority to less, the services of menopause outpatient clinics were menopausal disease diagnosis and treatment, counseling, health education and disease referral. 90.1% (100/111) of menopause outpatient clinics provided routine medical examinations, and only 55.9% (62/111) and 59.5% (66/111) of them provide psychological and nutritional status assessment. The allocation rate of commonly used examination equipment in menopause outpatient clinics was 81.1%-96.4%, while only 28.8%-37.8% of them had psychological status assessment tool, human body composition analyzer and nutrition status assessment tool. Among 111 menopause outpatient clinics, 46.8% ( n=52), 36.0% ( n=40), and 34.2% ( n=38) of them established outpatient consultation process, referral (consultation) work system, and follow-up work system, and 49.5% ( n=55), 29.7% ( n=33), 42.3% ( n=47), and 17.1% ( n=19) of them established visit registration, health records, follow-up records of referrals, and reported outpatient services, respectively. Conclusion:Menopause outpatient clinics in 11 provinces of China have been initially established, and policy guidance and human resources allocation should be further strengthened.

Objective:To understand the status of menopause outpatient clinics in maternal and children health (MCH) institutions and general hospitals.Methods:A total of 314 health administrative departments, MCH health institutions and general hospitals in 11 provinces of China were enrolled by using multi-stage random sampling method. A self-made questionnaire was used to investigate the development of normative documents for menopausal health work, and the establishment, services, health resources, system and information management of menopause outpatient clinics. The current situation of menopause outpatient clinics in MCH institutions was compared with that in general hospitals.Results:All health administrative departments did not formulate normative documents for menopausal health care. Among MCH health institutions and general hospitals, 53.4% (111/208) established menopause outpatient clinic. About 60.9% (64/105) of MCH institutions established menopause outpatient clinic, which was higher than that of general hospitals [45.6% (47/103)] ( P<0.05). From high priority to less, the services of menopause outpatient clinics were menopausal disease diagnosis and treatment, counseling, health education and disease referral. 90.1% (100/111) of menopause outpatient clinics provided routine medical examinations, and only 55.9% (62/111) and 59.5% (66/111) of them provide psychological and nutritional status assessment. The allocation rate of commonly used examination equipment in menopause outpatient clinics was 81.1%-96.4%, while only 28.8%-37.8% of them had psychological status assessment tool, human body composition analyzer and nutrition status assessment tool. Among 111 menopause outpatient clinics, 46.8% ( n=52), 36.0% ( n=40), and 34.2% ( n=38) of them established outpatient consultation process, referral (consultation) work system, and follow-up work system, and 49.5% ( n=55), 29.7% ( n=33), 42.3% ( n=47), and 17.1% ( n=19) of them established visit registration, health records, follow-up records of referrals, and reported outpatient services, respectively. Conclusion:Menopause outpatient clinics in 11 provinces of China have been initially established, and policy guidance and human resources allocation should be further strengthened.

Objective To evaluate the effect of low-flow sevoflurane anesthesia on the early postoperative renal function in patients.Methods Sixty patients of both sexes,of American Society of Anesthesiologists physical status Ⅰ or Ⅱ,aged 18-64 yr,scheduled for elective non-urological surgery with general anesthesia,with an expected surgical duration＞4 h,were divided into 2 groups (n =30 each) using a random number table method:middle-flow anesthesia group (group Ⅰ) and low-flow anesthesia group (group Ⅱ).Anesthesia was induced with Ⅳ midazolam,sufentanil,propofol and cisatracurium besylate.Mechanical ventilation was performed after tracheal intubation.Pure oxygen served as carrier,the fresh gas flow of oxygen was set at 4-5 L/min,sevoflurane was inhaled for 10-15 min,and then fresh gas flow was decreased to 2 L/min (group Ⅰ) and 0.5 L/min (group Ⅱ).End-tidal pressure of carbon dioxide was maintained at 35-45 mmHg.The end-tidal concentration of sevoflurane was set at 2.0％-2.4％,remifentanil and cisatracurium besylate were infused intravenously,and sufentanill or propofol was injected intermittently to maintain anesthesia.Bispectral index value was maintained at 40-60 during operation.Before anesthesia induction (T0),at 1,2,3 and 4 h after anesthesia induction (T1-4),immediately after operation (T5) and at 24 h after operation (T6),peripheral venous blood samples were collected for determination of serum fluoride ion concentrations.Peripheral venous blood samples and urine specimens were collected at T0,T5,T6,48 h after operation (T7) and 72 h after operation (T8) for determination of creatinine (Cr),blood urea nitrogen (BUN) and cystatin C (Cys C) and serum and urine β2-microglobulin (β2-MG) concentrations.Results Compared with the baseline at T0,serum fluoride ion concentrations were significantly increased at T1-6 in two groups,the serum Cys C concentration was increased at T5,and serum and urine β2-MG concentrations were increased at T5 and T6 in group Ⅰ,serum Cr and BUN concentrations and serum and urine β2-MG concentrations were increased at T5 and T6,and the serum Cys C concentration was increased at T5-T7 in group Ⅱ (P＜0.05).Compared with group Ⅰ,serum fluoride concentrations were significantly increased at T1-6,serum Cr and BUN concentrations and serum and urine β2-MG concentrations were increased at T5,and serum Cys C concentrations at T5-T7 and urine β2-MG concentrations at T5 and T6 were increased in group Ⅱ (P＜0.05).Conclusion Low-flow sevoflurane anesthesia produces no marked effect on early postoperative renal function in patients.

Early postoperative ambulation is one of the three key techniques of fast track surgery,which can not only promote the recovery of gastrointestinal function but also can reduce pulmonary complications and improve patients′ self healing ability. The concept of early postoperative ambulation was summarized in this review and the main factors that can affect the early postoperative ambulation were analyzed from the view of medical staff and patients,which provide basis for further implementation of early postoperative ambulation.

OBJECTIVETo observe the effect of electroacupuncture(EA) at Zhongwan(CV 12) on the energy metabolism along the conception vessel(CV) in volunteers with yang-deficiency constitution,and to explore the relationship of electroacupuncture regulation and body constitution.

METHODSEighteen volunteers with mild constitution and 18 volunteers with yang-deficiency constitution were collected out of 200 students of Fujian University of TCM by body constitution questionnaire. Skin microcirculatory blood perfusion units (MBPU) at Danzhong (CV 17), Xiawan(CV 10) and Qihai(CV 6) of CV were measured by a laser Doppler flowmetry in the normal condition and after EA stimulation at Zhongwan(CV 12) for 20 min.

RESULTS(1)Before treatment, (1)MBPU values at Danzhong(CV 17), Xiawan(CV 10) and Qihai(CV 6) in the yang-deficiency constitution group were lower than those in the mild constitution group,but there was no statistical significance (both P>0. 05) except Danzhong(CV 17) (P<0. 01). (Z)As for the three acupoints in the mild constitution group, MBPU level of Danzhong(CV 17) was higher than that of Xiawan(CV 10) without statistical significance(P->0. 05),and MBPU values of Danzhong(CV 17) and Xiawan(CV 10) were higher than that of Qihai(CV 6) (both P<0. 01). (3About the three acupoints in the yang-deficiency constitution group, MBPU result of Danzhong(CV 17) was lower than the value of Xiawan(CV 10), but higher compared with Qihai(CV 6)(P<0. 05, P<0. 01). MBPU of Xiawan(CV 10) was higher than Qihai (CV 6) as well(P<0. 01). (2) MBPU values of Danzhong(CV 17), Xiawan(CV 10) and Qihai(CV 6) were increased apparently compared with those before treatment after EA stimulation at Zhongwan(CV 12) for 20 min in the two groups(all P<0. 01). (3) The rise rates of MBPU level about Danzhong(CV 17) and Qihai(CV 6) in the yang-deficiency constitution group were higher than those in the mild constitution group without statistical significance after EA at Zhongwan(CV 12) for 20 min(both P>0. 05).

CONCLUSIONThe energy metabolism in CV of volunteers with yang-deficiency constitution is declined, especially Danzhong(CV 17). EA can rise energy metabolism in CV of mild or yang-deficiency constitution volunteers through regulating MBPU along meridian.

Acupuncture Points ; Adolescent ; Adult ; Electroacupuncture ; Energy Metabolism ; Female ; Humans ; Male ; Meridians ; Microcirculation ; Skin ; blood supply ; metabolism ; Volunteers ; Yang Deficiency ; metabolism ; physiopathology ; therapy ; Young Adult

Objective To evaluate the status and influencing factors of early ambulation in patients following postoperative gastric cancer, and provide evidence for making reasonable evaluated standard to patients.Methods Self-designed questionnaires were used to investigate the early ambulation of 108 patients following postoperative gastric cancer from June 2013 to August 2014. Results The mean time of first ambulation was(30.82±13.83)h in 108 patients, and the average distance was(13.14±14.68)meters. 51 cases completed the early ambulation and accounted for 47.2%. The results of logistic regression analysis showed that postoperative pain and postoperative fatigue could greatly affect early ambulation of patients following postoperative gastric cancer(P<0.05).Conclusions Postoperative pain intervention and postoperative fatigue management benefits to the early ambulation for patients following postoperative gastric cancer.

Objective To explore the effect of assessment criteria in early ambulation of gastric cancer patients after surgery. Methods Totally 327 gastric cancer patients from January 2013 to March 2016 in our hospital were selected as the research object by convenience sampling method. All patients were randomly divided into the control group ( n=160) and the observation group ( n=167) by throwing a coin. Patients in the control group received routine nursing before surgery, while patients in the observation group were assessed by postoperative assessment criteria of early safety ambulation. The status of postoperative early ambulation and satisfaction degree were compared between two groups. Results In the observation group, the proportion of ambulation within 24 hours after surgery was 80.2%, and it was 46.9% in the control group (χ2=39.439,P<0.05). The satisfaction degree towards nursing work in the observation group was 95. 8%, and was significantly higher than that in the control group ( 81. 2%) . The situation of observation group with early ambulation is better than that of control group (χ2=9.115,P<0.05).Conclusions Assessment criteria of early ambulation for patients with postoperative gastric cancer is benefit for developing early postoperative ambulation and improving the satisfaction degree towards nursing.

The Chinese and English published literature regarding the effects of acupuncture on microcirculation in recent years were analyzed, and it was found out that the theory of TCM meridian had subtle connection with microcirculation on structure and function, which could provide a possible breakthrough for the research of meridian essence. Acupuncture, through multiple links, multiple paths and multiple levels, could regulate microcirculation under physiological or pathological condition, which was a bidirectional benign adjustment function, and reflected the characteristic of acupoint specificity. Due to many shortcomings in the current studies, studies with rigorous design, large sample size and multicenter are expected in the further to make a standard systematized research.
Acupuncture Points ; Acupuncture Therapy ; Humans ; Meridians ; Microcirculation