[Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].

Objective: To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A. Methods: It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 µmol/(L·h) or elavated Lyso-GL-3 level>1.10 µg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation. Meanwhile, family screening was carried out. A proband and his family members diagnosed with Fabry disease were research subjects. The clinical and genetic characteristics of patients with Fabry disease caused by the GLA variant (IVS4+919G>A) were analyzed. Results: The female proband aged 9.8 years with pain in both lower limbs as the initial symptom was found to have a heterozygous GLA variant IVS4+919G>A among 102 patients. In family screening, there were 4 family members (proband's father, elder sister, elder male cousin and elder female cousin) with Fabry disease and a family member (proband's fifth aunt) with a GLA variant. Among these 4 diagnosed family members, the elder male cousin of the proband, a boy aged 13.2 years had a heterozygous GLA variant, IVS4+919G>A with intermittent pain in both lower limbs as the initial symptom. The proband's father had knee joint pain. The proband's elder sister had decreased vision and his elder female cousin had no obvious symptoms. The proband's fifth aunt with a GLA variant had decreased vision. Conclusions: High-risk screening in children and family screening are helpful for early diagnosis and treatment of Fabry disease. Neuropathic pain may be a early symptom in children with Fabry disease caused by the GLA variant, IVS4+919G>A.

[Progress in omics research and preclinical models of gallbladder cancer].

Gallbladder cancer(GBC)is one common type of bile tract cancers with poor prognosis. This review summarizes the recent development of studies about somatic mutation, molecular subtype, microenvironment heterogeneity, organoid, orthotopic model, patient-derived xenograft and clinical translation on GBC in aspects of genomic,transcriptome,single cell omics and clinical translation. We expect this review will provide new ideas on dissecting molecular mechanisms underlying the development and emerging chemoresistance of GBC following therapy and promote GBC precision medicine.

[Analysis of suicide ideation and its influencing factors among nursing staff of different grades in different hospitals during their career].

Objective: To analyze the prevalence and related factors of suicide ideation among nurses in different levels of hospitals in Shandong Province, and to analyze the relationship between them. Methods: From June to July 2020, 1644 nurses in Shandong Province were surveyed by multi-stage stratified cluster sampling. The suicidal ideation of nurses was investigated by suicidal ideation screening. Social support and mental health were measured by the perceived social support scale (pass) and kessler10 scale respectively. The simple coping style scale (SCSQ) was used to evaluate the coping styles of the subjects when they encountered problems. Logistic regression was used to analyze the influencing factors of suicidal ideation, Amos software was used to establish the path model of suicidal ideation related factors, and the maximum likelihood estimation was used to test the path model coefficient. Results: The incidence of suicidal ideation among nurses in secondary hospitals during their career was 8.44%, and that in tertiary hospitals was 11.66%. There was no significant difference in suicidal ideation among nurses at all levels in secondary hospitals (P>0.05) . The main factors related to suicidal ideation were unmarried and others (OR=0.362, 95%CI=0.155, 0.844, P=0.019) , social support (OR=1.084, 95% CI=1.059, 1.109, P=0.000) and mental health status (OR=0.921, 95% CI=0.890, 0.953, P=0.000) . The suicide ideation of skilled nurses in tertiary hospitals was higher than that of other levels (P<0.05) . The related factors of suicide ideation mainly included unmarried and others (OR=0.369, 95% CI=0.214, 0.636, P=0.000) , night shift (OR=1.889, 95%CI=10.57, 3.377, P=0.032) , general self-rated social status (OR=2.377, 95%CI=1.031, 5.483, P=0.042) , physical disease (OR=2.747, 95%CI=1.601, 4.714) , P=0.000) , Social support (OR=0.960, 95%CI=1.042, 1.077, P=0.000) and mental health status (OR=0.942, 95%CI=0.922, 0.963, P=0.000) . Social support and mental health have a direct effect on suicidal ideation. Self-assessment of social status, social support and physical disease can affect suicidal ideation by affecting mental health. Conclusion: It is necessary to pay more attention to the mental health status of nurses at different levels in different hospitals during their career, improve their social support level, and improve their cognition of the practice environment.

[Endemic situation of schistosomiasis in national surveillance sites of Zhejiang Province from 2015 to 2019].

OBJECTIVE: To analyze the endemic situation of schistosomiasis in national surveillance sites of Zhejiang Province, so as to provide the scientific evidence for formulating the new schistosomiasis surveillance program and consolidating schistosomiasis elimination achievements. METHODS: A total of 54 to 55 national surveillance sites and 6 risk monitoring sites were assigned in historical endemic regions of Zhejiang Province from 2015 to 2019, where the Schistosoma japonicum infections in humans, livestock, snails and wild feces were monitored. All data pertaining to the surveillance results were descriptively analyzed. RESULTS: There were 34 530 person-time local residents receiving serological screening for S. japonicum infections in national surveillance sites of Zhejiang Province from 2015 to 2019, and the seroprevalance of S. japonicum infections were 0.29% to 0.68%; however, no egg-positives were detected. During the period from 2015 to 2019, there were 62 086 person-time mobile populations receiving serological screening for S. japonicum infections in national surveillance sites of Zhejiang Province, and the seroprevalance of S. japonicum infections were 0.32% to 0.56%; additionally, there were 27 egg-positives identified, including 3 imported cases with schistosomiasis haematobia and one case with acute schistosomiasis japonica, indicating that the adjusted prevalence of Schistosoma infections were 0.01% to 0.07% among mobile populations. A total of 829 livestock were examined for S. japonicum infections, with no positives detected. There were 10.55 hm2 and 2.89 hm2 snail habitats found in national surveillance sites and risk monitoring sites of Zhejiang Province during the 5-year period, respectively; however, no S. japonicum infections were identified in snails. Moreover, a total of 305 wild feces were tested for S. japonicum infections, and no egg-positives were identified. CONCLUSIONS: The schistosomiasis elimination achievement have been consolidated in Zhejiang Province; however, the risk factors of re-emerging schistosomiasis have not been completely eliminated, such as residual snails and imported schistosomiasis cases. Further surveillance and control activities of snails and the source of S. japonicum infections should be reinforced.

[Design and analysis of two groups interrupt time series].

Interrupted time-series (ITS) is a quasi-experimental design which evaluates the effectiveness of an intervention based on time-series outcome variables. Compared with the single group of ITS, the two groups of ITS can better control the influence of pre-interventional confounding factors and evaluate the effectiveness of the intervention. This paper summarizes the principles and statistical methods of two groups of ITS by an example of evaluating vaccine effect on the incidence of a disease in two cities. The regression model is fitted by Prais-Winsten method and Newey-West method and the results are explained and compared in detail. When the intervention is performed with other confounding interventions at the same time, the two groups of ITS can be more effective to balance the existing trends before the intervention, and evaluate the effectiveness of intervention. The method of two groups of ITS has important practical significance, providing new insights in program evaluation.

[Clinicopathological features and prognosis of 488 patients with neuroendocrine tumors].

Objective: To investigate the clinicopathological features and prognosis of patients with neuroendocrine tumors (NETs). Methods: The clinicopathologic data of enrolled patients with NETs between October 2012 and October 2017 at the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed. Results: Among the 488 NETs patients, the average age was (51.0±15.8) years, and the sex ratio (male/female) was 1∶1.1. Of the NETs, 370 were located in the digestive system (75.8%), 63 were pulmonary (12.9%), 14 were mediastinal (2.9%), 7 were of unknown primary origin (1.4%), and 34 were located in other sites (7.0%). Among the NETs, the pancreas, rectum and stomach were the most common sites. In the digestive system NETs, the most common tumor grade was G1 (190 cases, 51.4%), followed by G2 (143 cases, 38.6%) and NET-G3 (37 cases, 10.0%). In pulmonary NETs, typical and atypical carcinoid tumors was 47.6% and 52.4%, respectively. There were 310 patients at stage Ⅰ/Ⅱ, 53 at stage Ⅲ, 69 at stage Ⅳ and 56 at stage undiagnosed, respectively. The relationships among age, stage, grade, metastasis, treatment and prognosis were analyzed. All these factors could influence the survival rate of NET patients. Multivariate Cox analysis showed that age (>50 years old) (HR=2.831, 95%CI:1.414-7.029, P=0.025) and distant metastasis (HR=10.208, 95%CI:4.110-25.355, P<0.001) were independent risk factors. Conclusions: The most common primary sites of NETs are the pancreas, rectum, and stomach. Age and distant metastasis are independent risk factors for the prognosis of NETs.

[Evaluation on the effect of exclusive breastfeeding among women with primipara, using the Information-motivation-behavioral skills model intervention model].

Objective: To explore the effects of intervention programs during primipara, using the Information-motivation-behavioral skills model (IMB) intervention model on initial exclusive breastfeeding. Method: 206 women of primiparas who were registered to the top three hospitals were selected in Shandong province, 2018. These women were hospitalized in the obstetrics/gynaecology wards during the later periods. IMB model was used to support the intervention programs at the following stages: antenatal period, 1 day postpartum, 3-4 days postpartum and 42 days postpartum. Questionnaire regarding self-efficacy energy meter, knowledge and behavior related to breastfeeding, were used before and after the intervention programs. Results: Through intervention programs, statistically significant differences in breastfeeding self-efficacy scores between the four stages (F=150.680, P=0.000) were recorded. Significant differences were also noticed in scores on knowledge of breastfeeding (F=176.556, P=0.000). Conclusion: The application of IMB intervention model in women at childbearing age seemed to be helpful in improving the effect of primary breastfeeding in women at childbearing age.

Optimal parameters and location for diffusion tensor imaging in the diagnosis of carpal tunnel syndrome: a meta-analysis.

AIM: To assess the diagnostic value of the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) of diffusion tensor imaging (DTI) at several anatomical locations in patients with carpal tunnel syndrome (CTS) to explore the optimal parameters and measurement location. MATERIALS AND METHODS: A search was conducted using the PubMed, EBSCO, Ovid, Web of Science, and Cochrane databases to identify articles relevant to this study published before September 2017. Studies were selected and included according to strict eligibility criteria. Mean differences (MD) and 95% confidence intervals (CIs) were used to compare FA and ADC values between CTS patients and healthy subjects. Potential publication bias was investigated. RESULTS: Eleven studies involving 349 CTS wrists and 278 controls were selected for the meta-analysis. A notable MD: was found for lowered FA at the level of the pisiform bone for CTS versus controls (MD: -0.11, 95% confidence interval [CI]: -1.14 to -0.07, z=5.83, p<0.001). A higher ADC was found at the pisiform bone and hamate bone levels for CTS versus controls (P: MD: 0.15, 95% CI: 0.10 to 0.20, z=5.98, p<0.001, H: MD: 0.15; 95% CI: 0.09 to 0.21, z=4.67, p<0.001). CONCLUSIONS: The meta-analysis demonstrated a significant FA reduction and ADC increase in CTS patients. This result supports the use of DTI parameters in differentiating CTS patients from health subjects. The anatomical site for FA at the pisiform and ADC at the pisiform and hamate levels were more accessible than other sites for the diagnosis of CTS patients.

[An study on the incidence of heat stroke and explore it's prediction model in Pudong New Area of Shanghai from 2013-2017].

Objective: To know the incidence of heat stroke and explore it's prediction model in Pudong New Area of Shanghai. Methods: An epidemiological investigation was conducted on heat stroke cases in Pudong New Area of Shanghai from 2013 to 2017. Daily temperature data during this period were collected to explore it's influence. Results: 246 heat stroke cases were reported and investigated, 70.3% (173/246) of them were male. 170 cases are severe heat stroke, accounting for 69.1%. 28 patients died, accounting for 11.4% of all cases of heat stroke, and 16.5% (28/170) of severe heat stroke cases. Thermoplegia (56.5%, 96/170) was the most popular type among severe heat stroke cases. Heat prostration, heat cramps and mixed type account for 17.1% (29/170) , 12.4% (21/170) and 14.0% (24/170) respectively. Scatter plot and linear regression demonstrated that there was a significant linear relation between number of high temperature days and number of heat stroke cases (P<0.01) . And the prediction model is: Predictive number of annual heat stroke cases=ß×Number of annual high temperature days+Intercept. Leave-one-out cross validation result shows that the predictive number of annual heat stroke cases from 2013 to 2017 were 85.7%, 90.9%, 83.3%, 91.9 and 84.3% respectively. Conclusion: There was a significant linear relation between number of high temperature days and number of heat stroke cases in Pudong New Area. The related work arrangement for heat stroke prevention could be well planed according to the prediction model.

[The effect of breast massage at different time in the early period after cesarean section].

Objective: To evaluate the effect of breast massage at different time in the early period on maternal lactation after cesarean section. Methods: 80 women delivered by cesarean section were randomly selected from maternity ward of a hospital in Shandong province during Jan. 2013 to Jan. 2015; which were divided into four groups, with 20 patients in each. Three groups received 3 times of breast massage every 24 hoursbeginning from 2, 12 and 24 h after cesarean section, respectively. The control group didn't receive any breast massage. The starting time and status of lactation were observed and recorded after cesarean section. 5 ml venous blood sample was drawn from each patient respectively at 2 h before cesarean, 6, 12, 24, 48 and 72 h after cesarean to test the level of serum prolactin. The lactation status of each group was compared. Results: The P(50) (P(25)-P(75)) of starting time of lactation of the three massage groups and control group were 3 (2-6) h, 4 (2-8) h, 4 (3-12) h and 4 (2-12) h, respectively, whose differences showed no statistical significance (H=3.32, P=0.345).The number of delivered women with adequate lactation 24 hours after cesarean was 10 in the group who received massage beginning from 2 h after cesarean; while the number was only 2 in the control group. The number of delivered women with adequate lactation 48 hours after cesarean was 18 in the group who received massage beginning from 2 h after cesarean; while the number was 8 in the control group. The differences showed statistical significances (P values were 0.021 and 0.008, respectively). The serum prolactin level in the group of delivered women who received massage from 2 h after cesarean was separately (195.9±78.5), (176.0±96.5), (216.4±110.0), (190.0±56.8) and (184.8±69.6) µg/L at 2, 12, 24, 48 and 72 h after cesarean, which were significantly higher than those in the control group (which were (128.8±40.6), (127.3±66.8), (162.2±58.8), (145.1±64.7) and (141.7±49.3) µg/L, respectively) (P=0.007). Conclusion: Breast massage beginning from 2 hours after cesarean section can effectively improve the lactation status of delivered women.

An instrument for measuring scintillators efficiently based on silicon photomultipliers.

An instrument used for measuring multiple scintillators' light output and energy resolution was developed. The instrument consisted of a light sensor array which was composed of 64 discrete SiPMs (Silicon Photomultipliers), a corresponding individual channel readout electronics system, and a data processing algorithm. A Teflon grid and a large interval between adjacent SiPMs were employed to eliminate the optical cross talk among scintillators. The scintillators' light output was obtained by comparing with a reference sample with known light output. Given the SiPM temperature dependency and the difference among each SiPM, a temperature offset correction algorithm and a non-uniformity correction algorithm were added to the instrument. A positioning algorithm, based on nine points, was designed to evaluate the performance of a scintillator array. Tests were performed to evaluate the instrument's performance. The uniformity of 64 channels for light output measurement was better than 98%, the stability was better than 98% when temperature varied from 15 °C to 40 °C, and the nonlinearity under 511 keV was better than 2%. This instrument was capable of selecting scintillators and evaluating the packaging technology of scintillator arrays with high efficiency and accuracy.

Post-spike hyperpolarization participates in the formation of auditory behavior-related response patterns of inferior collicular neurons in Hipposideros pratti.

To probe the mechanism underlying the auditory behavior-related response patterns of inferior collicular neurons to constant frequency-frequency modulation (CF-FM) stimulus in Hipposideros pratti, we studied the role of post-spike hyperpolarization (PSH) in the formation of response patterns. Neurons obtained by in vivo extracellular (N=145) and intracellular (N=171) recordings could be consistently classified into single-on (SO) and double-on (DO) neurons. Using intracellular recording, we found that both SO and DO neurons have a PSH with different durations. Statistical analysis showed that most SO neurons had a longer PSH duration than DO neurons (p<0.01). These data suggested that the PSH directly participated in the formation of SO and DO neurons, and the PSH elicited by the CF component was the main synaptic mechanism underlying the SO and DO response patterns. The possible biological significance of these findings relevant to bat echolocation is discussed.

Acute respiratory distress syndrome in a pregnant woman with systemic lupus erythematosus: a case report.

When the disease activity of systemic lupus erythematosus (SLE) is controlled appropriately, a pregnant woman who has lupus is able to carry safely to term and deliver a healthy infant. While the physiology of a healthy pregnancy itself influences ventilatory function, acute pulmonary distress may decrease oxygenation and influence both mother and fetus. Though respiratory failure in pregnancy is relatively rare, it remains one of the leading conditions requiring intensive care unit admission in pregnancy and carries a high risk of maternal and fetal morbidity and mortality, not to mention the complexity caused by lupus flare. We report a case of SLE complicated with lupus pneumonitis and followed by acute respiratory distress during pregnancy. Though there is a high risk of maternal and fetal morbidity and mortality, maternal respiratory function improved after cesarean section and treatment of the underlying causes. The newborn had an extremely low birth weight but was well at discharge.

Alzheimer's disease: is a vaccine possible?

The cause of Alzheimer's disease is still unknown, but the disease is distinctively characterized by the accumulation of ß-amyloid plaques and neurofibrillary tangles in the brain. These features have become the primary focus of much of the research looking for new treatments for the disease, including immunotherapy and vaccines targeting ß-amyloid in the brain. Adverse effects observed in a clinical trial based on the ß-amyloid protein were attributed to the presence of the target antigen and emphasized the relevance of finding safer antigen candidates for active immunization. For this kind of approach, different vaccine formulations using DNA, peptide, and heterologous prime-boost immunization regimens have been proposed. Promising results are expected from different vaccine candidates encompassing B-cell epitopes of the ß-amyloid protein. In addition, recent results indicate that targeting another protein involved in the etiology of the disease has opened new perspectives for the effective prevention of the illness. Collectively, the evidence indicates that the idea of finding an effective vaccine for the control of Alzheimer's disease, although not without challenges, is a possibility.

The epidemiological and clinical characteristics of measles in Wenzhou, China, 2000-2010.

This study examined the epidemiological and clinical characteristics of measles in Wenzhou, China. From 2000 to 2010, a total of 13271 measles cases were reported in Wenzhou, with epidemics occurring every 3-4 years. Forty-five per cent of the cases were aged <1 year and 27.2% were aged >14 years. Of 2262 hospitalized measles cases, 66.3% were diagnosed with pneumonia, and three cases died from respiratory failure. The number of measles cases of infants requiring hospitalization increased from birth to age 8 months and declined thereafter. Measurement of serum measles antibody levels in normal infants indicates that over 80% of infants in Wenzhou may be susceptible to measles by age 6 months. The existence of a sufficient pool of unvaccinated children and the decreased level of passively transferred measles antibodies in infants from vaccinated mothers contributed to the sustained transmission observed in Wenzhou.

Intercomparison of methods for coincidence summing corrections in gamma-ray spectrometry--part II (volume sources).

The second part of an intercomparison of the coincidence summing correction methods is presented. This exercise concerned three volume sources, filled with liquid radioactive solution. The same experimental spectra, decay scheme and photon emission intensities were used by all the participants. The results were expressed as coincidence summing corrective factors for several energies of (152)Eu and (134)Cs, and different source-to-detector distances. They are presented and discussed.