Objective:To analyze the types and distribution of pathogenic variants for neonatal genetic diseases in Huzhou, Zhejiang Province.Methods:One thousand neonates (48 ~ 42 h after birth) born to Huzhou region were selected as the study subjects. Dry blood spot samples were collected from the newborns, and targeted capture high-throughput sequencing was carried out for pathogenic genes underlying 542 inherited diseases. Candidate variants were verified by Sanger sequencing.Results:Among the 1 000 newborns, the male to female ratio was 1.02 : 1.00. No pathogenic variants were detected in 253 cases, whilst 747 cases were found to carry at least one pathogenic variant, which yielded a carrier rate of 74.7%. The most frequently involved pathogenic gene was FLG, followed by GJB2, UGT1A1, USH2A and DUOX2. The variants were classified as homozygous, compound heterozygous, and hemizygous variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), 213 neonates were verified to have carried pathogenic and/or likely pathogenic variants, with a positive rate of 21.3%. The most commonly involved genes had included UGT1A1, FLG, GJB2, MEFV and G6PD. Conclusion:Newborn screening based on high-throughput sequencing technology can expand the scope of screening and improve the positive predictive value. Genetic counseling based on the results can improve the patients′ medical care and reduce neonatal mortality and childhood morbidity, while provide assistance to family members′ health management and reproductive decisions.

Objective To explore the effects of "hospital-community-family" continuous nursing model in continuous nursing among diabetics. Methods From February 2018 to February 2019, a total of 102 diabetic out-patients at the Third Affiliated Hospital of South Medical University were selected by stratified random sampling. Patients were divided into control group and observation group with the random number table, 51 cases in each group. Control group carried out routine follow-up nursing. Observation group implemented "hospital-community-family" continuous nursing. We compared the fasting blood glucose (FBG), 2-hour postprandial blood glucose (2h PG), glycosylated hemoglobin (HbA1c), scores of the Champion Health Belief Model Scale (CHBMS), Health-Promoting Lifestyle Profile-Ⅱ (HPLP-Ⅱ) and Quality of Life Scale for Patients with Type 2 Diabetes Mellitus (DMQLS) of two groups before and after intervention. Results After intervention, the FBG, 2 h PG and HbA1c of observation group were (7.11±1.25)mmol/L, (9.15±1.24) mmol/L and (8.15±0.59)% respectively lower than those [(8.56±1.31)mmol/L, (11.21±1.35)mmol/L and (10.99±1.12)%]of control group with statistical differences (t=5.719, 8.026, 16.022; P＜ 0.05). After intervention, the scores of CHBMS, HPLP-Ⅱ and DMQLS of observation group were (4.16±0.34), (4.09±0.35) and (165.24±5.21) respectively higher than those [(3.52±0.42), (3.24±0.41) and (154.18±4.39)]of control group with statistical differences (t=8.458, 11.260, 11.593;P＜0.05). Conclusions Application of "hospital-community-family" continuous nursing in patients with type 2 diabetes mellitus helps the glucose control, improves health belief, health behavior and quality of life which is worthy of being used widely in clinical application.

Objective To investigate the value of prenatal ultrasound in diagnosis of fetal posterior urethral valve (PUV) and the differential diagnosis of related diseases.Methods The antenatal ultrasonographic manifestations and the outcomes of 14 cases with congenital lower urinary tract obstruction (LUTO) in Shengjing Hospital of China Medical University from December 2014 to December 2016 were analyzed.The ultrasound features and differential diagnosis of fetal posterior urethral valve were summarized and analyzed.Results Fourteen male fetuses with LUTO were prenatally diagnosed.Eleven fetuses were diagnosed as PUV,I as urethral atresia,2 as megacystis and LUTO.Among the fourteen fetuses,11 were confirmed as PUV after delivery,1 as urethral atresia,2 as vesicoureteral reflux (VUR).One case among them was diagnosed as PUV,and latter proved to be VUR.In 2 cases among them,prenatal ultrasound indicated megacystis,but 1 case was proved to be PUV,and 1 case was VUR.The prenatal ultrasound of the PUV fetuses showed enlarged bladder and thickened bladder wall.Most of them were accompanied by the keyhole sign.Conclusion Prenatal ultrasound can assist in the diagnosis of PUV by analyzing the anatomy of the bladder and accompanying malformations,which provides valuable diagnostic information for the clinical practice.

Objective To investigate the value of procalcitonin (PCT) for urosepsis secondary to ureteral calculus.Methods Samples of 68 ureteral calculi patients who were suspected of urosepsis were obtained for PCT level,C-reactive protein (CRP) level,blood routine examination,urinary sediment,blood culture and urine culture.Sixty-eighy patients were divided into urosepsis group and non-urosepsis group based on the urosepsis diagnostic standard.The age sex,stone location,stone size,blood WBC count,CRP level,PCT level and urine WBC count were compared between the 2 groups.PCT levels before and after treatment were also compared.Results The age,stone size in urosepsis group were significantly higher than those in non-urosepsis group.The PCT levels of patients in urosepsis group and non-urosepsis group were 19.09±25.15 μg/L and 2.09± 1.85 μg/L respectively before treatment,and there was a significant difference between the 2 groups (P＜0.05).The blood WBC counts (× 109/L) of patients in urosepsis group and non-urosepsis group were 11.00± 3.47 and 10.27±2.32 respectively before treatment (P＞0.05).The CRP levels of patients in urosepsis group and non-urosepsis group were 17.41±15.24 mg/L and 15.02±4.94 mg/L respectively before treatment (P＞0.05).The median urine WBC counts (per HPF) of patients in urosepsis group and non-urosepsis group were 54 and 47 respectively before treatment (P＞0.05).The PCT levels of patients in urosepsis group before and after treatment were 19.09 ± 25.15 μg/L and 1.06 ± 0.56 μg/L,and there was a significant difference (P＜0.05).Conclusion PCT has a definite value for early diagnosis of urosepsis,condition assessment and treatment guideline.

Morphological examination of blood cells is an important part of the hematology examination course. In order to enrich teaching resources, network of bilingual education resource was established and put into application by the Department of Hematology in Guangzhou Medical College. The repository improved teaching quality of cell morphology, and played a role in training personnel of hematology examination with solid basic skills.

Objective To investigate the abnormal expressions of immunoglobulin light chains kappa(Igκ)and Lambda(Igλ)in malignant tumors.Methods The concentrations of the Igκ and Igλ in serum were measured by rat nephelometry in 60 cases of malignant tumors and 15 cases of healthy people.Results The liver tumor patients had a higher concentration of Igκ and Igλ in serum than normal people(P＜0.01).There wre not significant differences between the levels of Igκ,Igλ and κ/λ ratio in the stomach tumor,lung tumor,proctologic/colonic tumor,mammary tumor,oesophagus tumor and normal peoples(P＞0.05).Conclusion The measurment of Igκ,Igλ and κ/λ ratio in serum would be helpful for the diagnosis of the liver tumor.By continous observation with Igκ,Igλ and κ/λratio in serum could predict the development of disease.

Objective To innovate an early, rapid and efficient approach to the pmgnestic evaluation of sep-sis in order to lower the mortality. Method Forty-five septic rats, induced by cecal ligation and puncture, were divided into surviving group (n=23) and non-survival group (n=22) on six days after onset of sepsis. Serum samples were taken from septic and sham-operated rats (n=25) at 12 hours after surgery. HPLC/MS assays were performed to acquire the serum metabolic profiles, and radial basis function neural network (RBFNN) was em-ployed to build predictive model for prognostic evaluation of sepsis. Results The principal component analysis al-lows differentiating the rots of survive,non-survive and sham-operated from one another in respect of the pathologic characteristics. Six metabolites, linolenic acid, linoleic acid, oleic acid, stearic acid, docosahexaenoic acid and do-cosapentaenoic acid, related to the outcomes of septic rats were then structurally identified. A RBFNN model for outcome predication was built based upon the metabolic profile data from rat sera with the sensitivity of (96.1 ±3.6)% (n=10) and specificity of (91.0±4.3)% (n=10). Condusions HPLC/MS-based metabonomic approach combined with pattern recognition permits accurate outcome prediction of septic rats in the early stage. The proposed approach has advantages of rapid, low-cost and efficiency, and is isph-ing to be applied in clinical prognostic evaluation of septic patients.

Objective To establish normal reference range of vein blood cell for adults in shenyang district. Methods Detected the blood cell on the 4218 healthy adults using automatic hemocyte analyzer MEK6318K and analysed the results,the sexual difference.Resultts The blood cell parameters of the blood cell in healthy adults have obvious difference in gender(P<0.01). RBC: male 5.03×1012/L,female 4.60 ×1012/L HBG:male 152.45 × g/L,female 138.28 x g/L. HCT:male 0.444 ×:L/L,female 0.387 × L/L WBC:male 5.99 ×10 9/L,female 6.14 × 109/L. Conclusion The blood cell parameters difference in shenyang is distinctly.

Sodium/proton exchanger 1 (NHE1) plays an important role in the cardiomyocyte development. To study the effect of NHE1 activity in stem cells differentiation into cardiomyocytes, we treated P19 stem cells with dimethyl sulfoxide (DMSO) to initiate cardiomyocyte differentiation. In separate experiments, P19 cells were incubated with NHE1 specific inhibitor EMD87580 during the DMSO induction. The formed embryoid bodies (EBs) were detected with cell morphology detection, immunohistochemisty staining and RT-PCR analysis of expression of cardio-specific gene markers. Results showed that P19 cells were able to differentiate into cardiomyocytes and form the beating cell clusters. However, when cells treated with NHE1 inhibitor EMD87580, they could still form the EBs and proliferate when cell clusters adhered on the culture plate, but cells were unable to differentiate. This observation indicates that inhibition of NHE1 activity affected P19 stem cells differentiating into cardiomyocytes.
Animals ; Cation Transport Proteins ; antagonists & inhibitors ; Cell Differentiation ; drug effects ; Cell Line ; Culture Media ; Dimethyl Sulfoxide ; pharmacology ; Guanidines ; pharmacology ; Mice ; Myocytes, Cardiac ; cytology ; Sodium-Hydrogen Exchanger 1 ; Sodium-Hydrogen Exchangers ; antagonists & inhibitors ; Stem Cells ; cytology ; drug effects ; Sulfones ; pharmacology

Objective To analyze the clinic features and hereditary characteristics of three subtypes of porokeratosis, namely disseminated superficial actinic porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata(PPPD) and porokeratosis of Mibelli (PM) in five pedigrees with porokeratosis. Meth-ods After clinical and pathological diagnosis, every living family member of the five pedigrees with poro-kerotosis was undergoing medical examination and genetics analysis. These five pedigrees consisted of three DSAP pedigrees (totally 266 family members including 100 patients), and one PPPD pedigree (composing of 90 members including 26 patients), one PM pedigree (cornposing of 34 members including 17 patients). Results While diagnosed as porokeratosis, the five pedigrees included three distinctive variants, each with its own clinic characteristics. The lesions was initiated on the face in DSAP subtype, on palms and the flex-ion side of fingers in PPPD subtype; or involving sun-covered areas in PM subtype. Of the three subtypes of porokeratosis, the onset age in DSAP subtype was earliest, usually about 8-20 years old, about 14-20 years old in PPPD subtype, but PM subtype about 20-30 years old. Conclusions As a group of autosomal dominant genodermatosis, porokeratosis presented various clinic variants with different genetic basis. And, different subtype could be seen in a same patient or same pedigree.