检索结果-南通市图书馆

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

World Journal of Clinical Cases 2024年第3期12卷 503-516页

作者： Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi Ilhem Turki Neji Gueddiche Najla Soyah Ali Saad Christian Bouwkamp Ype Elgersma Soumaya Mougou-Zerelli Moez Gribaa laboratory of Human cytogenetics Molecular Genetics and Reproductive BiologyFarhat Hached University HospitalSousse 4000Tunisia Higher Institute of Biotechnology of Monastir University of MonastirMonastir 3000Tunisia Department of Neuropediatry La Rabta HospitalTunis 2000Tunisia Department of Pediatric Farhat Hached University HospitalSousse 4000Tunisia Department of Neuroscience Erasmus MCthe NetherlandsRotterdam 3112 tdNetherlands

BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene *** the genetic basis remains unclear for several *** To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome *** We established a cohort study in 50 patients referred to farhat hached University hospital between 2006 and 2021,with a strong suspicion of AS and absence of chromosomal *** UBE3A gene was screened for mutation *** unrelated patients issued from consanguineous families were subjected to exome *** We describe seven UBE3A variants among them 3 none previously described including intronic variants c.2220+14T>C(intron14),c.2507+43T>A(Exon15)and insertion in Exon7:c.30-47_*** exome sequencing revealed 22 potential genes that could be involved in AS-like syndromes that should be investigated *** Screening for UBE3A mutations in AS patients has been proven to be useful to confirm the *** exome findings could rise to new potential alternative target genes for genetic counseling.

关键词： Angelman syndrome Ubiquitin-protein ligase E3A Exome Consanguinity Polymorphism

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Case Report and Clinical Management of a Case of Osteogenesis Imperfecta Detected in the Prenatal Period

引用

Open Journal of Obstetrics and Gynecology 2024年第7期14卷 996-1002页

作者： Amina Chaieb Oumayma Ben Rejeb Samar Knaz Yasmine Ben Ali Syrine Chelly Safia Ernez Mouna Derouiche Department of Gynecology and Obstetrics Farhat Hached University Hospital Sousse Tunisia Faculty of Medicine Ibn Al Jazzar University of Sousse Sousse Tunisia

Osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed through genetic studies. We present a case of osteogenesis imperfecta suspected during obstetrical ultrasound at 19 weeks’ gestation, which was later confirmed radiographically through computed tomography. Due to the severity of the condition, therapeutic termination of pregnancy was indicated.

关键词： Osteogenesis Imperfecta Ultrasound Screening Antenatal Diagnosis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Outcome of Nurses with Occupational Dermatitis

引用

Open Journal of Nursing 2024年第6期14卷 239-251页

作者： Amira Omrane Chayma Harrathi Asma Kheder Maher Maoua Malek Ben Abdelkader Taoufik Khalfallah Najib Mrizak Mohamed Akrout Mohamed Adnene Henchi Hichem Bel Hadj Ali Department of Occupational Medicine and Ergonomics Taher Sfar Teaching Hospital Mahdia Tunisia Department of Occupational Medicine Houcine Bouzaiene Teaching Hospital Gafsa Tunisia Department of Occupational Medicine Farhat Hached Teaching Hospital Sousse Tunisia Department of Occupational Medicine and Ergonomics Fattouma Bourguiba Teaching Hospital Monastir Tunisia Department of Dermatology Fattouma Bourguiba Teaching Hospital Monastir Tunisia

Background: Occupational dermatitis is considered as the second most common occupational disease. It accounts for 25% of all lost workdays. Several international studies reported a prevalence of occupational dermatitis in healthcare workers between 17% and 55%. This study aims to identify factors that affect the professional outcome of nurses suffering from occupational dermatitis. Methods: This was a multicenter cross-sectional study concerning nurses declared having occupational dermatitis in the central region of Tunisia. A synoptic sheet related to socio-professional and administrative data was completed. A self-administered Questionnaire going over medical and occupational characteristics was completed during a direct interview. Results: The study involved forty nurses working in four public hospitals in the center of Tunisia. Only 37 workers were included in the study. A professional reclassification was introduced among 19 workers (51% of study population). Work-station adaptation was requested in 14 cases (38%). Exposure to allergens in the workplace was eliminated in 20 cases. Two study participants were transferred to other departments (5.4%) and three people retired (8.1%). A statistically significant association was found between professional reclassification and a history of allergic manifestations (p = 0.003). Similarly, a significant association was found between professional reclassification and the allergic agent (p = 0.014). Workstation layout was significantly associated with a history of allergic manifestations (p = 0.039), the palm hand location (p = 0.04), professional eviction (p Conclusion: This study identified the main factors influencing the occupational outcome of nurses suffering from occupational dermatitis. This outcome depended on a history of atopy (especially allergic rhinitis) and sensitization to allergens (thiuram mix).

关键词： Nursing Occupational Dermatitis hospital

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy

引用

Cancer Biology & Medicine 2013年第1期10卷 47-51页

作者： Ayda Bennour Ikram Tabka Yosra Ben Youssef Zahra Kmeira Abderrahim Khelif Ali Saad Halima Sennana Department of cytogenetics Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital Department of Clinical Hematology Farhat Hached Hospital

The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.

关键词： Philadelphia chromosome t(3 12)(q21 p13) chronic myeloid leukemia accelerated phase fluorescence in situhybridization

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Does wet-cupping therapy improve repeated sprint ability,perceived wellness,and rating of perceived exertion in young active males?

引用

Sports Medicine and Health Science 2024年第4期6卷 378-384页

作者： Ismail Dergaa Amine Ghram Mohamed Romdhani Amine Souissi Achraf Ammar Ramadan Abdelmoez Farahat Mohamed Saifeddin Fessi Khadijeh Irandoust Morteza Taheri Tasnim Masmoudi Mohamed Amine Dergaa Nizar Souissi Omar Hammouda Katja Weiss Karim Chamari Helmi Ben Saad Beat Knechtle Primary Health Care Corporation(PHCC) DohaP.O.Box 26555Qatar Research Unit Physical Activity Sportand HealthUR18JS01National Observatory of SportTunis 1003Tunisia High Institute of Sport and Physical Education University of SfaxSfaxTunisia Department of Cardiac Rehabilitation Heart HospitalHamad Medical CorporationDohaQatar Universite de Sousse Faculte de Medecine de SousseHopital Farhat HACHEDLaboratoire de Recherche(Insuffisance CardiaqueLR12SP09)SousseTunisia Healthy Living for Pandemic Event Protection(HL-PIVOT)Network ChicagoILUSA Interdisciplinary laboratory in Neurosciences Physiology and Psychology:Physical ActivityHealth and LearningUFR STAPSUPLParis Nanterre UniversityNanterreFrance Department of Training and Movement Science Institute of Sport ScienceJohannes Gutenberg-University Mainz55128 MainzGermany Research laboratory Molecular Bases of Human PathologyLR19ES13Faculty of Medicine of SfaxUniversity of SfaxSfax 3029Tunisia Faculty of Medicine Kafrelsheikh UniversityKafrelsheikh33511Egypt Department of Behavioral and Cognitive Sciences in Sport Faculty of Sport Sciences and HealthUniversity of TehranIran University of Sousse Farhat HACHED HospitalForensic ServiceSousseTunisia Medbase St.Gallen Am Vadianplatz St.GallenSwitzerland Aspetar Orthopaedic and Sports Medicine HospitalFIFA Medical Centre of ExcellenceDohaP.O.Box 29222Qatar Institute of Primary Care University of ZurichZurichSwitzerland

Wet-cupping therapy(WCT)is one of the oldest known medical techniques,used as a traditional and complementary therapy with a wide application all around the world for general *** on the effects of WCT on sports performance are sparse and ***,we aimed to explore the effects of WCT on repeated sprint ability,wellness,and exertion in young active ***-nine active adult males(age:[28±5]years;body height[177±8]cm;body mass:[79±7]kg;body mass index:[25.4±1.8]kg/m^(2))were selected for the *** participants performed a running-based sprint test on two separate occasions(Control and Post-WCT).WCT was performed 24 h before the testing *** completed the Hooper questionnaire to assess their well-being(i.e.,sleep,stress,fatigue,and soreness)before each *** rating of perceived exertion(RPE)was collected after each testing session.A higher maximum power(p<0.05,effect size[ES]=0.6),mean power(p<0.01,ES=0.5)and minimum power(p<0.01,ES=0.6)were recorded post-WCT as compared to Control session along with a better perceived sleep(p<0.01,ES=0.85).Perceived stress(p<0.01,ES=0.6)and RPE(p<0.001;ES=1.1)were lower during the post-WCT compared to the Control *** present findings demonstrated that WCT moderately enhanced repeated sprint ability and had positive effects on perceived sleep,stress,and *** may be an effective ergogenic aid to improve repeated sprint ability and general wellbeing in young adult *** large-scale multicentric clinical studies are paramount to confirm the results of our study.

关键词： Alternative medicine Complementary medicine Hijama Short-term maximal performance Sports medicine

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Effect of chemotherapy on autoimmune hepatitis in thymoma:a case report and literature review

引用

Cancer Biology & Medicine 2013年第3期10卷 169-173页

作者： Nesrine Mejri Imen Chabchoub Ines Gargouri Imtinen Belaid Faten Ezairi Sihem Hmissa Slim Ben Ahmed Medical Oncology Department Farhat Hached Hospital Pathology Department Farhat Hached Hospital

Autoimmune hepatitis(AIH) has rarely been described as an autoimmune paraneoplastic syndrome of *** case is the seventh case of AIH revealed by cholestasis few years after the diagnosis of thymoma and the first case treated with chemotherapy *** report in this paper a new approach to this rare severe condition.A 29 year-old man presented with chest pain and dyspnea with a history of thymoma surgically removed 4 years *** scan showed the recurrence of an anterior mediastinal *** showed elevated liver enzymes and profound *** sign of viral or toxic hepatitis or bile duct abnormalities were *** antibodies,except for the anti-nuclear antibody,were *** biopsy showed active chronic *** patient was diagnosed with recurrent thymoma with AIH and underwent 6 cycles of chemotherapy.A complete response on thymoma and cholestasis was obtained after 10 months of *** and immunosuppressors are the standard treatment for *** effect of chemotherapy as a specific treatment of this paraneoplastic syndrome needs to be considered.

关键词： Hepatitis autoimmune thymoma chemotherapy

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

MACS-annexin V cell sorting of semen samples with high TUNEL values decreases the concentration of cells with abnormal chromosomal content:a pilot study

引用

Asian Journal of Andrology 2022年第5期24卷 445-450页

作者： Sahar El Fekih Nadia Gueganic Corinne Tous Habib Ben Ali Mounir Ajina Nathalie Douet-Guilbert Hortense Drapier Damien Beauvillard Frédéric Morel Aurore Perrin University of Brest InsermUMR U1078Faculty of Medicine and Health SciencesBrest 29238France laboratory of Human cytogenetics Molecular Genetics and Reproductive BiologyFarhat Hached University HospitalSousse 4031Tunisia Departement of Medical Genetics and Reproductive Biology Brest University Regional HospitalBrest 29609France Department of Reproductive Medicine Farhat Hached Teaching HospitalSousse 4031Tunisia

We question whether,in men with an abnormal rate of sperm DNA fragmentation,the magnetic-activated cell sorting(MACS)could select spermatozoa with lower rates of DNA fragmentation as well as spermatozoa with unbalanced chromosome *** spermatozoa from six males were separated into nonapoptotic and apoptotic *** determined the percentages of spermatozoa with(i)externalization of phosphatidylserine(EPS)by annexin V-Fluorescein isothiocyanate(FITC)labeling,(ii)DNA fragmentation by TdT-mediated-dUTP nick-end labeling(TUNEL),and(iii)numerical abnormalities for chromosomes X,Y,13,18,and 21 by fluorescence in situ hybridization(FISH),on the whole ejaculate and selected spermatozoa in the same *** to the nonapoptotic fraction,the apoptotic fraction statistically showed a higher number of spermatozoa with EPS,with DNA fragmentation,and with numerical chromosomal *** to the whole ejaculate,we found a significant decrease in the percentage of spermatozoa with EPS and decrease tendencies of the DNA fragmentation rate and the sum of disomy levels in the nonapoptotic ***,we observed statistically significant higher rates of these three parameters in the apoptotic *** may help to select spermatozoa with lower rates of DNA fragmentation and unbalanced chromosome content in men with abnormal rates of sperm DNA fragmentation.

关键词： chromosomal abnormalities DNA fragmentation externalization of phosphatidylserine magnetic-activated cell separation spermatozoa

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Association of hepatitis C virus infection and diabetes in central Tunisia

引用

World Journal of Gastroenterology 2009年第22期15卷 2778-2781页

作者： Naoufel Kaabia Elhem Ben Jazia Ines Slim Imen Fodha Wissem Hachfi Rafika Gaha Mabrouk Khalifa Aoutef Hadj Kilani Halim Trabelsi Ahmed Abdelaziz Fethi Bahri Amel Letaief Department of Internal Medicine and Infectious Disease Unit of Research:04/UR/08-21University Hospital Farhat Hached Microbiology Unit University Hospital Sahloul Epidemiology Unit University Hospital Farhat Hached Department of Medicine Msaken hospital

AIM：To investigate hepatitis C virus （HCV） seroprevalence in Tunisian patients with diabetes mellitus and in a control group. METHODS： A cross-sectional study was conducted to determine the HCV seroprevalence in 1269 patients with diabetes （452 male, 817 female） and 1315 nondiabetic patients, attending health centers in Sousse, Tunisia. HCV screening was performed in both groups using a fourth-generation enzyme immunoassay. RESULTS： In the diabetic group, 17 （1.3%） were found to be HCV-infected compared with eight （0.6%） in the control group, although the difference was not significant （P = 0.057）. Quantitative PCR was performed in 20 patients. Eleven patients were positive and showed HCV genotype lb in all cases. CONCLUSION： Frequency of HCV antibodies was low in patients with diabetes and in the control group in central Tunisia, with no significant difference between the groups.

关键词： Hepatitis C virus Diabetes mellitus Tunisia Epidemiology Autoantibodies Hepatitis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Atlanto-axial langerhans cell histiocytosis in a child presented as torticollis

引用

World Journal of Clinical Cases 2017年第8期5卷 344-348页

作者： Miniar Tfifha Mehdi Gaha Nadia Mama Mohamed Taher Yacoubi Saoussen Abroug Hela Jemni Pediatrics Department Sahloul University Hospital Radiology Department Sahloul University Hospital Pathology Department Farhat Hached University Hospital

Langerhans cell histiocytosis(LCH) is a rare condition mostly seen in children and adolescents. Eosinophilic granuloma(EG) is one of its three clinical entities and is considered as a benign osteolytic lesion. Many reports of patients with spine histiocytosis are well documented in the literature but it is not the case of atlantoaxial localization. We report here a new observation of atlantoaxial LCH in a 4-year-old boy revealed by persistent torticollis. He was successfully treated with systemic chemotherapy and surgery. Inter-body fusion packed by autologous iliac bone was performed with resolution of his symptoms. It is known that conservative treatment is usually sufficient and surgery should be reserved for major neurologic defects in spine EG. In atlantoaxial lesion, surgical treatment should be frequently considered.

关键词： Langerhans cell histiocytosis Eosinophilic granuloma Torticollis Cervical spine

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

CD4+/CD56+ Hematodermic Neoplasm Presenting in the Skin: A Tunisian Case Report and Current Review of the Literature

引用

Open Journal of Blood Diseases 2012年第4期2卷 95-99页

作者： Yosra Ben Youssef Nessrine Ben Sayed Kmira Zahra Abir Gmidène Naouel Ben Salah Atef Ben Abdelkader Nejia Brahem Hlima Sennana Colanda Belajouza Abderrahim Khelif Department of Anatomopathology Farhat Hached University Hospital Sousse Tunisia Department of Clinical Hematology Farhat Hached University Hospital Sousse Tunisia Department of cytogenetics Farhat Hached University Hospital Sousse Tunisia Department of Cytology Aziza Othmana University Hospital Tunis Tunisia Department of Cytology Farhat Hached University Hospital Sousse Tunisia Department of Dermatology Farhat Hached University Hospital Sousse Tunisia

The CD4+/CD56+ hematodermic neoplasm is a rare aggressive systemic neoplasm for which effective therapies have not yet been established, it is clinically characterized by cutaneous involvement with spread to bone marrow, blood and poor prognosis with current chemotherapy regimens. Our objective is to report diagnosis and treatment difficulties of CD4+/CD56+ hematodermic neoplasm. We describe here a Tunisian man who presented with subcutaneous ulcerated lesion localized in the right leg and multiples generalized nodules. Skin biopsy showed an atypical lymphoid cell infiltration with an angiocentric pattern and extensive necrosis by immuno-histochemical analysis, these cells were positive for CD4, CD56, granzyme B and negative for CD8, CD123, CD20 and CD30. T-cell rearrangement and Epstein-Barr-virus (EBV) in situ hybridation studies were negative. The patient underwent 5 cycles chemotherapy SMILE regimen monthly sandwiched with radiotherapy on the residual lesions of the right leg with great tolerance but he relapsed within 8months with skin, blood, bone marrow, lung, and cerebrospinal involvement. Based on these findings, the patient was diagnosed with CD4+/CD56+ hematodermic neoplasm (blastic NK-like T-cell lymphoma) treated with one course of hyper-CVAD regimen, he died within 20 days with a septic chok. Despite the use of L-Asparaginase and radiotherapy the prognosis is very poor;we suggest the exploration for highly active drugs, hematopoietic stem cell transplantation (HSCT) is crucial to improve survival.

关键词： Blastic NK-Like T-cell Lymphoma Hyper-CVAD SMILE Prognosis Treatment

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：