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Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family

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Genes & Diseases 2024年第2期11卷 561-563页

作者： Bertozzi Irene Benetti Andrea Regazzo Daniela Polese Francesca Biagetti Giacomo Ceolotto Giulio Randi Maria Luigia First Medical clinic University of Padua Department of Medicine – DIMEDVia Giustiniani 2Padova 35123Italy Transfusion Medicine Department Ospedale dell'Angelo - Venezia MestreVia Paccagnella 1Venice 30174Italy Emergency Medicine University of Padua Department of Medicine – DIMEDVia Giustiniani 2Padova 35123Italy

Absolute erythrocytosis,due to an increased production of red blood cells,becomes manifest with hemoglobin(Hb)levels above 165 or 160 g/L or with a hematocrit(HCT)above 51%and 48%in males and females,respectively.1 A minority of patients have polycythemia vera(PV);acquired secondary erythrocytosis frequently occurs due to appropriate or inappropriate erythropoietin(EPO)excess,while congenital secondary erythrocytosis may derive from genetic defects causing tissue *** erythrocytosis occurs in patients with genetic mutations of the oxygen-sensing pathway(VHL,PHD2,_HIF-1-alpha)or the erythropoietin receptor(EPOR)genes.2 Recently,HFE gene variants have been described in sporadic erythrocytoses.3 In a high proportion(about 70%)of patients with erythrocytosis,a specific etiology remains elusive despite extensive testing,and the diagnosis of idiopathic erythrocytosis(IE)is ruled out.

关键词： diagnosis patients congenital

Emergency physicians’ occupational risks in China

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World Journal of Emergency Medicine 2024年第3期15卷 232-234页

作者： Huaying Jiang Jia Chang Rong Huang Xiayi Liang Manning Song Hejing Yuan Shuo Wang School of Chinese Materia Medica Beijing University of Chinese MedicineBeijing 100105China Operation Room Beijing Chaoyang HospitalCapital Medical UniversityBeijing 100020China School of Marxism Beijing University of Chinese MedicineBeijing 100105China Department of Infectious Diseases(Fever clinic) Beijing Hospital of Traditional Chinese MedicineCapital Medical UniversityBeijing 100010China

With the rapid development of emergency medicine,emergency physicians are working around the clock,[1]including additional workloads due to sudden public health emergencies and *** risks for emergency physicians are s... 详细信息

关键词： physician acute occupational

Screening,Preparation,Characterization and Solubility of Polymorphic Forms of Ethinyl Estradiol

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Chinese Journal of Structural Chemistry 2017年第6期36卷 949-957页

作者：徐娟王慧萍李鹏宁丽峰 National Research Institute for family planning

Ethinyl estradiol（EE） as a contraceptive,（17α）-19-nopregna-1,3,5-（10）-trien-20-yne-3,17-diol（formula： C（20）H（24）O2, molecular weight： 296.4, CAS number： 57-63-6）, is known to have different pseudo-polymorphic forms. Some EE polymorphs have been synthesized by means of physical or chemical methods, characterized by X-ray powder diffraction（XRPD）, thermogravimetric（TG）, differential scanning calorimetry（DSC） and IR spectra. Dissolution profile was tested by high performance liquid chromatography（HPLC）. Meanwhile, the crystal structure of the new EE solvate（formamide） was characterized by single-crystal X-ray structure analysis（SXRD）. The results confirmed that EE existed polymorphism. Five crystal forms of EE were presented and two of them were reported firstly. Furthermore, five polymorphs＇ dissolution curves were drawn and they could be identified by several analysis methods. Our study on polymorphs of EE could provide a variety of crystal material composition, preparation methods and solubility.

关键词： ethinyl estradiol polymorphism useful characterization methods dissolutionprofiles96

Crystal Structures and Physicochemical Properties of Solvated Estradiol

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Chinese Journal of Structural Chemistry 2018年第5期37卷 730-740页

作者：王慧萍徐娟宁丽峰李鹏陈晓锋 National Research Institute for family planning

Polymorph screening is currently one of the most important tasks for innovators and for generic companies from both pharmaceutical and intellectual property rights aspects. The hemihydrate form（Form Ⅰ） and formamide solvate（Form Ⅱ） of estradiol are isolated and prepared via systemic crystallization screening in this paper, and the formamide solvate form is reported for the first time. Both polymorphic forms were characterized by single-crystal X-ray structure analysis（SXRD）, powder X-ray diffraction（PXRD）, and thermal analysis（TGA and DSC）. The PXRD experiments indicate that the samples in this study are the pure polymorphic forms via comparing the patterns with the simulated ones. The stability and equilibrium solubility data of the solid-state phase were also examined in order to check the impact of the differences observed in their crystalline structures. It has been found that Forms I and II are of conformational polymorph and Form II is the more thermodynamically stable solid form, while Form I possesses higher solubility, indicating its possibility as an alternate solid form for its further solid formulation development if necessary.

关键词： estradiol crystalline structure solubility stability

A randomized, controlled, multicenter contraceptive efficacy clinical trial of the intravas device, a nonocclusive surgical male sterilization

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Asian Journal of Andrology 2014年第3期16卷 432-436页

作者： Wen-Hong Lu Xiao-Wei Liang Yi-Qun Gu Wei-Xiong Wu Li-Wei Bo Tian-Gui Zheng Zhen-Wen Chen Key Laboratory of Male Reproductive Health National Health and Family Planning Commission National Research Institute for Family Planning and WHO Collaborating Centre for Research in Human Reproduction Beijing Institute for family planning of Guangzhou city Guangzhou Institute for family planning of Henan Province Zhengzhou Institute for family planning of Putian City Putian China.

Because of unavoidable complications of vasectomy, this study was undertaken to assess the efficacy and safety of male sterilization with a nonobstructive intravas device （IVD） implanted into the vas lumen by a mini-surgical method compared with no-scalpel vasectomy （NSV）. IVDs were categorized into two types： IVD-B has a tail used for fixing to the vas deferens （fixed wing） whereas IVD-A does not. A multicenter prospective randomized controlled clinical trial was conducted in China. The study was comprised of 1459 male volunteers seeking vasectomy who were randomly assigned to the IVD-A （n = 487）, IVD-B （n = 485） or NSV （n = 487） groups and underwent operation. Follow-up included visits at the 3rd-6TM and 12~ postoperative months, The assessments of the subjects involved regular physical examinations （including general and andrological examinations） and semen analysis. The subjects＇ partners also underwent monitoring for pregnancy by monthly interviews regarding menstruation and if necessary, urine tests, There were no significant differences in pregnancy rates （0.65% for IVD-A, 0 for IVD-B and 0.21% for NSV） among the three groups （P 〉 0.05）. The cumulative rates of complications at the 12th postoperative month were zero, 0.9% and 1.7% in the three groups, respectively. In conclusion, IVD male sterilization exhibits a low risk of long-term adverse events and was found to be effective as a male sterilization method, similar to the NSV technique. IVD male sterilization is expected to be a novel contraceptive method.

关键词： complication male sterilization nonobstructive intravas device no-scalpel vasectomy

Constipation and colonoscopy

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World Journal of Gastrointestinal Endoscopy 2024年第5期16卷 244-249页

作者： Dusan Dj Popovic Branka Filipovic Faculty of Medicine University of BelgradeBelgrade 11000Serbia Department of Gastroenterology and Hepatology Clinic for Internal MedicineUniversity Clinical Hospital Center“Dr.Dragisa Misovic-Dedinje”Belgrade 11000Serbia

Constipation is a significant sociomedical problem,which can be caused by various *** the diagnostic approach to patients with constipation,the following data are usually sufficient:History,complete physical examination(including rectal examination),and additional diagnostic tests.A colonoscopy is not a necessary diagnostic method for all patients with ***,if patients have alarm symptoms/signs,that suggest an organic reason for constipation,a colonoscopy is *** most important alarm symptoms/signs are age>50 years,gastrointestinal bleeding,new-onset constipation,a palpable mass in the abdomen and rectum,weight loss,anemia,inflammatory bowel disease,and family history positive for colorectal *** endoscopists do not like to deal with patients with *** are two reasons for this,namely the difficulty of endoscopy and the adequacy of *** are adversely affected by *** improve the quality of colonoscopy in these patients,good examination techniques and often more extensive preparation are *** colonoscopy technique implies adequate psychological preparation of the patient,careful insertion of the endoscope with minimal insufflation,and early detection and resolution of *** preparation for colonoscopy often requires prolonged preparation and sometimes the addition of other laxatives.

关键词： Constipation Functional constipation Colonoscopy Bowel preparation Polyethylene glycol

Predictors of Abnormal Vaginal Discharge among Women of Reproductive Age in Southeast Nigeria

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International Journal of clinical Medicine 2024年第7期15卷 240-256页

作者： Jideuma Egwim Victor Dike Hope Igbonagwam Nkechinyere Oke Uzoma Amajo Akuchi Okafor Angela Izegbune Ijedimma Okafor Department of family Medicine Federal University Teaching Hospital Owerri Nigeria Department of Public Health Central Michigan University Mount Pleasant Michigan USA Department of Ophthalmology Enugu State University Teaching Hospital Enugu Nigeria Department of family Medicine Lagos University Teaching Hospital Lagos Nigeria Department of Internal Medicine Alex Ekwueme Federal University Teaching Hospital Ebonyi State Nigeria Field Office World Health Organisation Imo State Nigeria Department of Internal Medicine Ebonyi State University College of Health Sciences Ebonyi State Nigeria

Background: An abnormal vaginal discharge is a common complaint among women of reproductive age, and it can indicate serious conditions like pelvic inflammatory disease and cervical cancer. This study aimed to assess the predictors of abnormal vaginal discharge in women of reproductive age group in Imo State, Southeast Nigeria. Methods: A cross-sectional study was conducted among 368 women of reproductive age group attending the clinic at Federal University Teaching Hospital Owerri, in Imo State, Nigeria. Respondents were recruited using a systematic sampling technique. Data were collected using a pre-tested interviewer-administered questionnaire. Multivariable analysis was performed to determine predictors of abnormal vaginal discharge. Statistical significance was set at p Results: The mean age of the respondents was 30 ± 4.5 years. Predictors of abnormal vaginal discharge were: age 36 - 45 years (OR: 4.5;95% C.I: 1.023 - 8.967, p = 0.041), being a student (OR: 2.4: 95% C.I: 1.496 - 7.336, p = 0.003), use of oral contraceptives (OR: 3.4;95% C.I: 1.068 - 6.932, p = 0.010), use of water cistern (OR: 4.7;C.I: 1.654 - 5.210, p = 0.028) anal hygiene practices (OR: 2.7;95% C.I: 1.142 - 4.809, p Conclusion: These findings suggest that targeted sexual and reproductive health interventions should be provided to reduce the risk of abnormal vaginal discharge in women of reproductive age group.

关键词： Predictors Abnormal Vaginal Discharge

Two approaches for calculating female fetal DNA fraction in noninvasive prenatal testing based on size analysis of maternal DNA fragments

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BIOCELL 2022年第1期46卷 185-193页

作者： JIANBO LU XIAOHAN SUN XU MA Human Genetics Resource Center National Research Institute for Family PlanningBeijing100081China Graduate School Peking Union Medical CollegeBeijing100730China Beijing University of Technology Beijing100124China

The concentration of cell-free fetal DNA fragments should be detected before noninvasive prenatal testing(NIPT).The fetal DNA molecules have significant clinical potential in determining the overall performance of NIPT and clinical *** is important to measure fetal DNA fraction before ***,there is still little research on how to calculate the concentration of female *** estimation approaches were proposed to calculate fetal DNA fraction,including the fragments size-based approach,aneuploid-based approach,which are all approaches based on chromosome *** on high-throughput sequencing data,two approaches to calculate the DNA fraction of male fetuses were tested and obtained the experiment values,which were close to the actual *** correlation coefficient of fragments size-based approach was 0.9243(Pclinical diagnosis.

关键词： Fetal DNA fraction Noninvasive prenatal testing Cell-free fetal DNA Female fetus

Sperm function tests after vasovasostomy

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Asian Journal of Andrology 2000年第2期2卷 111-114页

作者： Ren-Qian WEN Mei-Yi LIE Pei-ling TIAN Ning YANG Yan-Jia JIANG Ai-Ping CHEN family planning Research Institute of Guangdong, Guangzhou 510600, China family planning Research Institute of Guangdong Guangzhou 510600 China family planning Research Institute of Guangdong 17 Mei Dong Road Dongshan District Guangzhou 510600 China

Aim: To evaluate the sperm function after vasovasostomy. Methods: Semen samples from 42 subjects aftervasovasostomy (Group A: 1-6 months, Group B: 6-12 months; Group C: 12-18 months after vasectomy rever-sal) were investigated. Semen from 34 normal fertile men was used as controls. Sperm function tests, including hypo-osmotic swelling test (HOST), acridine orange (AO) fluorescence, acrosome reaction (triple-stain), cervical mucuspenetration test (CMPT), etc were done. Results: After vasectomy reversal, the percentage of HOST was signifi-cantly lower than that of the normal fertile men. In regard to AO, there were no significant differences between thethree vasovasostomy groups and between these 3 groups and the controls. With triple-stain, the percentage of normalacrosome reaction was significantly lower in Group A as compared with the controls, but not in Groups B and C. Therewere no significant differences in the results of CMPT between the vasovasostomy groups and the controls. However,the number of 'poor' type was significantly higher in Groups A and C than in the controls; the percentage of 'nega-tive' type were higher in Groups A and B than in the controls. Conclusion: After vasovasostomy a lower level ofHOST remained for one year and gradually recovered after one year. Six months after vasectomy reversal, the percent-age of acrosome reaction could be changed from lower level to normal range. The data of AO indicated that the geneticmaterial (double-stranded DNA) in spermatozoa was not affected by vasovasostomy. To evaluate the result of CMPTafter vasectomy reversal, not only the normal results but also the abnormal results ('poor' and 'negative' types)should also be ***: To evaluate the sperm function after vasovasostomy. Methods: Semen samples from 42 subjects aftervasovasostomy (Group A: 1-6 months, Group B: 6-12 months; Group C: 12-18 months after vasectomy rever-sal) were investigated. Semen from 34 normal fertile men was used as controls. Sper

关键词： semen sperm function test vasectomy vasovasostomy