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From azoospermia to macrozoospermia,a phenotypic continuum due to mutations in the ZMYND15 gene

Asian Journal of Andrology 2022年第3期24卷 243-247页

作者： Zine-Eddine Kherraf Caroline Cazin Florence Lestrade Jana Muronova Charles Coutton christophe Arnoult Nicolas Thierry-Mieg Pierre F Ray Univ.Grenoble Alpes INSERM U1209CNRS UMR 5309Institute for Advanced BiosciencesTeam Genetics Epigenetics and Therapies of InfertilityGrenoble 38000France CHU Grenoble Alpes UM GI-DPIGrenoble 38000France chr metz thionville hospital 1 allée ChâteauMETZ 57000France CHU Grenoble Alpes UM of Chromosomic GeneticsGrenoble 38000France Univ.Grenoble Alpes CNRSTIMC-IMAGGrenoble F-38000France

Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing(WES),many genes have now been linked to severe sperm defects.A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C(AURKC)***,we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of *** analysis did not reveal any deleterious *** was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15(ZMYND15)***15 has been described to serve as a switch for haploid gene expression,and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia(NOA).In man,ZMYND15 has been associated with NOA and severe *** confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe *** addition,we show that severe oligozoospermia can be associated macrozoospermia,and that a phenotypic misdiagnosis is possible,potentially delaying the genetic *** conclusion,genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe *** our experience,severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or *** these instances,specific AURKC or dpy-19 like 2(DPY19L2)diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES.

关键词： azoospermia gene defect macrozoospermia male infertility

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Screening of Foot at Risk in Diabetic Patients

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Open Journal of Internal Medicine 2019年第3期9卷 62-71页

作者： Djenebou Traore Djeneba Sylla Sow Massama Konaté Ousmane Sidibé Modibo Mariko Djibril Sy Bah Traoré Karim Dao Amadou Koné Nanko Doumbia Nouhoum Ouologuem Yacouba Lazard Diallo Boua Daoud Camara Nongoba Sawadogo Ibrahima Amadou Dembélé Barry Boubacar Sangaré Mamadou Cissoko Mahamadou Saliou Youssouf Fofana Mamadou Mallé Mamadou Togo Adramé Keita Abdramane Traoré Nagou Tolo Madani Ouologuem Abdel Kader Traoré Assa Traoré Sidibé Department of Internal Medicine The University Teaching Hospital of Point G Bamako Mali Department of Internal Medicine and Endocrinology The Mali Hospital Bamako Mali chr Internal Medicine Department of Kaya Kaya Burkina Faso Department of Internal Medicine The Mother and Children Hospital “Luxembourg” Bamako Mali Department Internal Medicine The Hospital of Kati Bamako Mali

Introduction: The term “diabetic foot” refers to all conditions that affect the foot and are directly related to the impact of diabetes. Objective: Screen the foot at risk in diabetic patients at the hospital of Mali. Methods: It was a cross-sectional study from January 1st, 2016 to June 30, 2016, at the Department of Internal Medicine and endocrinology of the hospital of Mali. It was focused on all hospitalized diabetic patients. Results: Thirty-two (32) patients had a foot at risk among 76 diabetic patients during the study period representing 42.10%. The sex ratio was 0.52. Type 2 diabetes accounted for 82%. A glycemic imbalance (HBA1C > 7%) was observed in 88.15%. Eighteen percent (18%) of patients had a history of ulceration or amputation;33% were walking barefoot;78.9% had tingles in the foot;31.6% had intermittent claudication;64.5% had foot cleanliness;8% claw toes;42% had abolition or reduction of superficial tenderness to monofilament and 21% had mixed foot (neuropathy + arteriopathy). In our study, 58.9% of patients had no risk of podiatry. Conclusion: Screening of foot at risk is essential in the management of diabetes because it determines the podiatric risk enabling to minimize future functional disabilities.

关键词： Foot at Risk Diabetes hospital of Mali

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Lipid Profile among the Diabetic and Non-Diabetic Obese Patients

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Open Journal of Internal Medicine 2018年第1期8卷 89-97页

作者： Djénèbou Traoré Aminata Hamar Traoré Djeneba Sylla Sow Massama Konaté Amadou Koné Hadiaratou Doumbia N’Diaye Modibo Mariko Ibrahim Amadou Dembélé Moctar Bah Bah Traoré Djibril Sy Ichaka Menta Hamidou Oumar Ba Nongoba Sawadogo Abdramane Traoré Assa Traoré Sidibé Assétou Soukho Kaya Abdel Kader Traoré Mamadou Dembélé Hamar Alassane Traoré Service of Internal Medicine and Endocrinology of hospital of Mali Bamako Mali Service of Internal Medicine of Point G University hospital Center Bamako Mali Service of Cardiology of Gabriel Touré University hospital Center Bamako Mali Service of Internal Medicine of chr de Kaya Kaya Burkina Fasso Service of Internal Medicine of Kati University hospital Center Bamako Mali

Objective: To study the lipid profile among the diabetic and non-diabetic obese patients. Methods: It was a descriptive and prospective study carried out over a period of 9 months from March to December 2010. It concerned all the patients who came for consultation in endocrinology at the internal medicine of Point G University hospital Center and at the National Center for Diabetes Research. All the patients were included without any gender or age difference, voluntary and with a BMI ≥ 30 kg/m2. Results: Out of the 1543 patients received in consultation, we had identified 178 obese people that is to say 11, 53% of the cases. Among these cases 60 abided by our criteria with 30 diabetic patients and 30 non-diabetic ones. The average age was 45.83 ± 14.68 years old;73.3% were more than 40 years old. The sex ratio was 0.07. Two third (66.7%) of our patients limited their eating diet to the three main meals/day and 61.7% were sedentary. The notion of family obesity was found in 93.4% of the cases, of family diabetes in 58.3% of the cases, of past personal medical history of hypertension in 43.3% of the cases. It was about an android obesity in 91% and Gynoid in 9% of the cases. The BMI was 55% of the cases comprised between 30 - 34.9 kg/m2. The lipid profile noticed was: A hypertriglyceridemia: 33% of diabetic patients and 10% of non-diabetic patients, a high LDL cholesterol: 37% of diabetic patients and 30% of our diabetic patients, a HDL hypocholesterolemia: 40% of the diabetic patients and 20% of the non-diabetic patients, a total hypercholesterolemia: 37% of the diabetic patients and 23% of non-diabetic patients. A hyperglycemia was noticed in 13.3% of non-diabetic patients. Conclusion: The frequency of metabolic troubles was higher in obese diabetic patients compared to non-diabetic obese patients mainly the hypertriglyceridemia.

关键词： Diabetes Obesity Dyslipidemia

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Four-year follow-up of patients with imatinib-resistant or intolerant chronic myeloid leukemia receiving dasatinib:efficacy and safety

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Frontiers of Medicine 2019年第3期13卷 344-353页

作者： Xiaojun Huang Qian Jiang Jianda Hu Jianyong Li Jie Jin Fanyi Meng Zhixiang Shen Ting Liu Depei Wu Jianmin Wang Jianxiang Wang Peking University People's hospital Beijing 100044China The Institute of Hematology & Blood Diseases hospital Chinese Academy of Medical Science & Peking Union Medical CollegeTianjin 300020China Fujian Medical University Union hospital Fuzhou 350004China The First Affiliated hospital with Nanjing Medical University Nanjing 210029China The First Affiliated hospital of The College of Medicine Zhejiang UniversityHangzhou 310058China Guangzhou Nanfang hospital Guangzhou 510515China Ruijin hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai 200025China West China hospital Sichuan UniversityChengdu 610041China The First Affiliated hospital of Soochow University Suzhou 215006China Changhai hospital of Shanghai Shanghai 200433China

Dasatinib is a highly effective second-generation tyrosine kinase inhibitor used to treat chronic myeloid leukemia (CML).In 2007,a pivotal phase-2 study of dasatinib as second-line treatment was initiated in 140 Chinese CML *** report from the 4-year follow-up revealed that 73% of 59 patients in chronic phase (CML-CP) and 32% of 25 patients in accelerated phase (CML-AP) remained under *** initial dosage of dasatinib for CML-CP and CML-AP patients were 100 mg once daily and 70 mg twice daily (total=140 mg/ day),*** cumulative major cytogenetic response (MCyR) rate among patients with CML-CP was 66.1%(versus 50.8% at 18 months),and the median time to MCyR was 12.7 *** CML-CP patients who achieved MCyR after a 4-year follow-up also achieved a complete cytogenetic *** cumulative complete hematological response (chr) rate among patients with CML-AP was 64%(16/25),with three CML-AP patients achieving chr between 18 months and 4 years of follow-up;the median time to chr was 16.4 *** adverse event (AE) profile of dasatinib at 4 years was similar to that at 6 and 18 *** most frequently reported AEs (any grade) included pleural effusion,headache,and *** long-term follow-up data continue to support dasatinib as a second-line treatment for Chinese patients with CML.

关键词： chronic myeloid leukemia (CML) dasatinib tyrosine kinase inhibitor long-term follow-up

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Spondylodiscitis, an Exceptional Complication of Prostate Biopsy: Case Report

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Open Journal of Modern Neurosurgery 2021年第2期11卷 97-101页

作者： Abd el Kader Moumouni Tchilabalo Matchonna Kpatcha Massaga Dagbe Katanga Anthony Beketi Mawouto Akpalou Gnimdou Botcho Komi Hola Sikpa Detema Wenkouda Maba Fabie Opeku Komi Awume Bidamin Ntimon Tchin Darre Neurosurgery Department University Teaching Hospital of Kara Kara Togo Urology Department University Teaching Hospital of Kara Kara Togo Radiology Department University Teaching Hospital of Kara Kara Togo Neurosurgery Department Sylvanus Olympio Teaching Hospital Lomé Togo Surgery Department CHR Atakpamé Atakpamé Togo Bacteriology Laboratory University Teaching Hospital of Kara Kara Togo Pathologyanatomy Laboratory Sylvanus Olympio Teaching Hospital Lomé Togo

Background: Transrectal prostate biopsy is a major prostate cancer diagnosis procedure that can cause infectious complications. Osteoarticular localization is uncommon. Aim: To report a case of spondylodiscitis due to a transrectal prostate biopsy and highlight therapeutical principles. Case Presentation: A 60-year-old male underwent transrectal prostate biopsy performed because of high PSA level, and presented 48 hours later with back pain, fever at 40°C associated with an obnubilation. He was treated for malaria without favorable evolution. Persistance of pain and occurrence of neurologic manifestations motivated dorso-lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) which permitted diagnosis of spondylodiscitis. The treatment was made by triple antibiotic therapy combining Imipenem 500 mg/8h (IV);Ofloxacin 200 mg/12h (IV) and Metronidazole 500 mg/8h (IV) over four weeks. Evolution under treatment was favorable. Conclusion: Spondylodiscitis is an exceptional complication of transrectal prostate biopsy. It may be evocated in case of bones pain after prostate biopsy.

关键词： Spondylodiscitis Prostate Biopsy Complication

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Ultrasound Assessment of Placenta Accreta Spectrum (PAS), Clinical Management of PAS in Our Society IS-PAS: Minutes of 2020 Online International Workshop on PAS

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Maternal-Fetal Medicine 2021年第4期3卷 232-234页

作者： Frederic Chantraine Xinrui Yang Jie Yan Department of Obstetrics and Gynecology Centre Hospitalier Universitaire de LiègeSite CHR Citadelle4000LiègeBelgium Department of Obstetrics and Gynecology Peking University First HospitalBeijing 100034China

Placenta accreta spectrum(PAS)of higher grade is a severe obstetric *** prenatal detection,attempting to remove the placenta tissue after baby delivery as usual may cause massive bleeding and could end in unplanned cesarean hysterectomy,thus threatening primarily maternal but also fetal *** screening and detection by ultrasound assessment is a useful way to improve outcome of these rare cases in preparing optimal conditions for the delivery.

关键词： fetal preparing remove

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Superiority of allogeneic hematopoietic stem cell transplantation to nilotinib and dasatinib for adult patients with chronic myelogenous leukemia in the accelerated phase

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Frontiers of Medicine 2015年第3期9卷 304-311页

作者： Lanping Xua Huanling Zhu Jianda Hu Depei Wu Hao Jiang Qian Jiang Xiaojun Huang Peking University People's hospital Peking University Institute of Hematology Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation Beijing 100044 China West China hospital Siehuan University Chengdu 610041 China Fujian Medical University Union hospital Fujian Institute of Hematology Fuzhou 350001 China The First Affiliated hospital Sooehow University Suzhou 215006 China

In the tyrosine kinase inhibitor （TKI） era, imatinib is the first-line therapy for patients with chronic myeloid leukemia （CML） in chronic or accelerated phase. Although second-generation TKIs （TKI2）, including dasatinib and nilotinib, are appropriate treatment regimens for patients with disease that progressed to accelerated phase following imatinib therapy, allogeneic hematopoietic stem cell transplantation （allo-HSCT） is the only curative therapy. This study retrospectively analyzed the efficacy of TKI2 and HSCT for treatment of CML in accelerated phase. Ninety-three patients with CML registered in the Chinese CML alliance database from February 2001 to February 2014 were enrolled and divided into the TKI2 （n = 33） and allo-HSCT （n = 60） groups. In the TKI2 group, 26 and 7 patients received nilotinib and dasatinib, respectively, as initial TKI2 and 11 patients transferred to the alternative TKI2 after failure to one TKI2. In the allo-HSCT group, 22 （36.7%）, 35 （58.3%）, and 3 （10%） patients underwent aHo-HSCT from an HLA-matched sibling donor, HLA mismatched/haploidentical donor, and unrelated donor, respectively. All patients in the HSCT group were engrafted. Overall, 69.7%, 48.5%, and 45.5% of patients presented hematological, cytogenetic, and major molecular responses, respectively, to at least one of TKI2. All 60 patients （100%） achieved chr and cytogenetic response in the HSCT group. Patients in the TKI2 group exhibited lower 5-year overall survival rate （42.9% vs. 86.4%, P = 0.002）, 5-year event-free survival rate （14.3% vs. 76.1%, P 〈 0.001）, and 5-year progression-free survival （28.6% vs. 78.1%, P 〈 0.001） than those in the alIo-HSCT group. Multivariate analysis showed that male sex and TKI2 therapy were predictors of poor overall survival, whereas hemoglobin 〈 100 g/L and TKI2 therapy were predictors of poor event-free survival and progression-free survival. These results indicated that allo-HSCT may be superior to nilotinib and dasatinib for adult patien

关键词： chronic myeloid leukemia imatinib dasatinib nilotinib allogeneic hematopoietic stem cell transplantation

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Cervico-Isthmic Pregnancy on Cesarean Scar Successful Treated with Methotrexate, Mifepristone and Misoprostol: A Case Report

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Open Journal of Obstetrics and Gynecology 2021年第9期11卷 1229-1235页

作者： K. E. Logbo-Akey D. R. Ajavon K. B. M’bortche P. Y. Kambote A. S. Aboubakari K. Akpadza Gynecology and Obstetrics Department of Kara University hospital University of Kara Kara Togo Gynecology and Obstetrics Department of chr Tomdé University of Kara Kara Togo Togolese Association of Family Well-Being Planning Center (ATBEF) University of Lomé Lomé Togo Gynecology and Obstetrics Department of Sylvanius Olympio University hospital University of Lomé Lomé Togo

Introduction: Cervico-isthmic pregnancy is rare, and serious because of its hemorrhagic complication. Its management varies according to the teams. Observation: We report a case of cervico-isthmic pregnancy on a cesarean scar. This is a 35-year-old, G2P2, who consulted for bleeding from the 1st trimester of pregnancy. The clinical examination found a minimal uterine bleeding. The diagnosis was made by a vaginal ultrasound which found a cervico-isthmic implantation of the pregnancy on the caesarean scar. A protocol of Mifepristone and Misoprostol followed by administration of a single dose of 1 mg/kg of Methotrexate was performed. Cure was obtained 1 month after treatment by negativation of plasma HCG. No bleeding complications were noted. A follow-up ultrasound performed 2 months later showed a uterine vacuity and the presence of an isthmocoele. It was in fact a pregnancy that had implanted in the isthmocoele. Conclusion: Cervico-isthmic pregnancy is rare. His treatment is not codified. Drug management was successful.

关键词： Cervico-Isthmic Pregnancy Medical Treatment Methotrexate

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Severe Trauma of Uterus and the Right Limb during a Road Accident at the Department of Obstetrics and Gynecology of the Teaching hospital Souro Sanou of Bobo-Dioulasso: A Case Report and Review of Literature

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Open Journal of Obstetrics and Gynecology 2021年第12期11卷 1836-1842页

作者： Bambara Moussa Ouedraogo Issa Diallo Malick Yaro Biessan Komboïgo Evelyne Department of Obstetrics and Gynecology University Joseph Ki-Zerbo CUHSS Bobo-Dioulasso Burkina Faso Service of Obstetrics and Gynecology University Joseph Ki-Zerbo CHR-OHG Ouayigouya Burkina Faso Department of Surgery Teaching Hospital Souro Sanou Bobo-Dioulasso Burkina Faso Teaching hospital Souro Sanou Bobo-Dioulasso Burkina Faso

The authors reported a case of trauma with uterus rupture at 35 weeks gestation with fetal death in uterus with a trauma of the right limb injuries during a serious road accident. Aim: the aim is to show the increasing of road accident with the motorized tricycle and their many risks for pregnant woman. Case Presentation: our patient was thrown from the back cargo of a motorized tricycle (three-wheeled vehicle) after a collision with a truck in a rural area from 150 km to Bobo-Dioulasso. She sustained a closed abdominal injury and a severe right lower limb open injury. At admission in our department in the Teaching Hospital, she was conscious, shocked with hemodynamic instability, including low blood pressure (75/52 mmHg), rapid heart rate (140 pulses per minute), rapid breath rate (40 per minute), and cold extremities. Abdominal examination was painful with uterine hypertonia, 28 cm height uterus, and no fetal heart heartbeat. A laparotomy in urgency revealed a rupture of the uterus fundus with a dead fetus. A conservative surgical treatment was performed. An open trauma to the right limb was managed by the orthopedists with a good outcome. Conclusion: Accident trauma during pregnancy is becoming more and more frequent with the increase in means of transport in urban and inter urban areas. The transport way

关键词： Road Accident Uterus Rupture Fetal Death Right Limb Injury Good Outcome

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Pulmonary Cladosporium infection coexisting with subcutaneous Corynespora cassiicola infection in a patient:A case report

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World Journal of Clinical Cases 2022年第11期10卷 3490-3495页

作者： Wei-Yi Wang Hong-Bin Luo Jun-Qi Hu Hui-Hua Hong Department of Respiratory Medicine The First Affiliated Hospital of Zhejiang Chinese Medical University(Zhejiang Provincial Hospital of Traditional Chinese Medicine)Hangzhou 310006Zhejiang ProvinceChina Department of Dermatology The First Affiliated Hospital of Zhejiang Chinese Medical University(Zhejiang Provincial Hospital of Traditional Chinese Medicine)Hangzhou 310006Zhejiang ProvinceChina

BACKGROUND Cladosporium and Corynespora cassiicola(***)infections rarely occur in *** in human caspase recruitment domain protein 9(CARD9)are reported to be associated with fungal *** Cladosporium infection coexisting with subcutaneous *** infection in a patient with a CARD9 mutation has not been reported in the *** SUMMARY A 68-year-old male patient was hospitalized for hypertrophic erythema and deep ulcers on the left upper *** was diagnosed with pneumonia caused by Cladosporium,as identified through bronchoalveolar lavage fluid analysis,and deep dermatophytosis caused by ***,as identified through morphological characteristics of the wound secretion *** underwent antifungal therapy(voriconazole)and recovered *** carried two mutations in CARD9(chr9:139266425 and chr9:139262240)and was therefore susceptible to fungal *** This case study is the first to report the coexistence of pulmonary Cladosporium infection and subcutaneous *** infection in a patient with CARD9 *** findings will be helpful in enriching the phenotypic spectrum of fungal infections underlying CARD9 deficiency.

关键词： Cladosporium Corynespora cassiicola Caspase recruitment domain protein

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