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Motor development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

Open journal of Clinical Diagnostics 2017年第1期7卷 8-19页

作者： Paula de Almeida Thomazinho Fernanda Bertao Scalco Maria Lucia Costa de oliveira Dafne Dain Gandelman Horovitz juan Clinton Llerena jr Fisioterapia Motora Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil departamento de Bioquimica Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Area de Centro de Genetica Medica Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil

After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value dex (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies

关键词： Infantile Pompe Disease Motor development Enzyme Replacement Therapy Glc4 Biomarker

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Analysis of Nursing Care Concept: Perspective of the Person Submitted to Care

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Open journal of Nursing 2016年第6期6卷 491-496页

作者： Camila Brasil Moreira Ana Fátima Carvalho fernandes Míria Conceição Lavinas Santos Altamira Mendonça Félix Gomes Carla Monique Lopes Mourão Rosy denyse Pinheiro de oliveira Angelica Isabely de Morais Almeida Suzy Ramos Rocha Cláudia Rayanna Silva Mendes Sadrine Maria Eufrasino de Pinho Marinna Maria de Andrade Costa jordana Prado Benevides Caroline Batista de Queiroz Aquino Iarlla Silva Ferreira Raquel Vilanova Araujo department of Nursing Federal University of Ceará Fortaleza Brazil

This study aimed to analyze the concept of nursing care to patients with breast cancer on chemotherapy treatment, according to the perspective of the person submitted to care. The study followed the conceptual analysis methodology proposed by Walker and Avant according to Waldow, and it was developed through consultation to SCOPUS and CINAHL databases. The selection was carried out by inclusion and exclusion criteria, constituting a sample of 7 articles. There have been identified the main uses of the risk concept, defining attributes, antecedents and consequences of the concept. The evaluation of the concept and nursing care to breast cancer patient on chemotherapy treatment allowed a broader understanding of the phenomenon, with emphasis on the skills and competencies in nursing care dispensed to woman on chemotherapy treatment for breast cancer.

关键词： Nursing Breast Neoplasms Analysis Research Nursing Care Chemotherapy

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Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

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Asian journal of Andrology 2017年第3期19卷 338-345页

作者： Carolina Goncalves Mariana Cunha Eduardo Rocha Susana fernandess, joaquina Silva Luis Ferraz Cristiano oliveira Alberto Barros Mairio Sousa department of Biology ClCECO University of Aveiro Campus Universitario de Santiago 3810-193 Aveiro Portugal department of Microscopy Laboratory of Cell Biology Institute of Biomedical Sciences Abel Salazar University of Porto (ICBAS-UP) Rua Jorge Viterbo Ferreira 228 4050-313 Porto Portugal and Multidisciplinary Unit for Biomedical Research ICBAS-UP Portugal Centre for Reproductive Genetics Prof. Alberto Barros Av. do Bessa 240 1° Dto. Frente 4100-009 Porto Portugal department of Microscopy Laboratory of Histology and Embryology ICBAS-UP Rua Jorge Viterbo Ferreira 228 4050-313 Porto Portugal department of Genetics Faculty of Medicine University of Porto Alameda Prof. Hernani Monteiro 4200-319 Porto Portugal and Institute for Innovation and Health Research (13S) University of Porto Portugal department of Urology Hospital Center of Vila Nova de Gala Rua Conceicao Fernandes 4430-502 Vila Nova de Gala Portugal.

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection （ICSI）, either using fresh （TESE） or frozen-thawed （TESE-C） testicular sperm and ejaculated sperm （EjAC）. The originality of this work resides in the comparisons between the different types of Y-microdeletions （AZFa, AZFb, and AZFc） and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn （NB） outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia （18 performed ICSI with ejaculated sperm） and 92 secretory azoospermia （65 went for TESE with 40 having successful sperm retrieval and performed ICSI）. There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB （2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C）. Of the 29 EjAC cycles, there was a birth of 8 NB （in AZFc）. In TESE and EjAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

关键词： intracytoplasmic sperm injection newborn outcomes nonobstructive azoospermia severe oligozoospermia testicularsperm extraction Y-chromosome microdeletions

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Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

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journal of Pharmacy and Pharmacology 2017年第11期5卷 812-820页

作者： Fantin, C. Prazeres, V. G. M. Benzaquem, D. C. fernandes, E. R. Q. G. S. oliveira, D. p. Ribeiro-Lima, j. C. Laboratorio de Proteomica e Genomica Departamento de Genetica Molecular e Citogendtica Escola Superior de Ciencias da Saude Universidade do Estado do Amazonas Manaus 69065-001 Brasil departamento de Saude Materno Infantil Universidade Federal do Amazonas Manaus 69076-005 Brasil Unidade de Laboratorio de Analises Clinieas Setor de Citogenetiea Hospital Universitario Getulio Vargas Universidade Federal do Amazonas Manaus 69076-005 Brasil

Chromosomal alterations are the main causes of genetic diseases. One of the characteristics of certain genetic syndromes is ID （intellectual disability） presented by the individual in varying degrees. The study of the ID, its etiology, association or not with chromosomal abnormalities and a clinical diagnosis associated with the examination of karyotype are important aspects to consider when providing genetic counseling for families. Due to the lack of similar studies and of easy access to cytogenetic services for the Amazonian population, this study aimed to contribute to the advancement of this line of study in the state, analyzing the karyotype of individuals with ID, not Down Syndrome treated at the APAE-Manaus and identifying the main types of chromosomal alterations in the individuals analyzed. Analyzes were performed of the clinical diagnosis through investigation of the data from the interview and medical records as well as analysis of the karyotype of 31 patients with non-Down syndrome ID, attended in the APAE-Manaus. Of these subjects, 20 were female and 11 male. The results showed only 2 cases of chromosome abnormalities are detectable by classical cytogenetics, one of mosaic Turner syndrome and one a heterochromatic variant. It is therefore necessary to complement the study with the addition of molecular techniques for the investigation of microdeletions and/or other alterations not detectable through the banding technique, mainly for individuals whose dysmorphisms indicate a suspected syndrome.

关键词： Intellectual disability classical cytogenetics G banding.

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Fetal brain tumors:Prenatal diagnosis by ultrasound and magnetic resonance imaging

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World journal of Radiology 2015年第1期7卷 17-21页

作者： Herbene jose Milani Edward Araujo junior Sergio Cavalheiro Patrícia Soares oliveira Wagner jou Hisaba Enoch Quindere Sa Barreto Maurício Mendes Barbosa Luciano Marcondes Nardozza Antonio fernandes Moron department of Obstetrics Paulista School of Medicine-Federal University of Sao Paulo(EPM-UNIFESP)Sao Paulo 05303-000Brazil Discipline of Neurosurgery Paulista School of Medicine-Federal University of Sao Paulo(EPM-UNIFESP)Sao Paulo 05303-000Brazil department of Diagnostic Imaging Paulista School of Medicine-Federal University of Sao Paulo(EPM-UNIFESP)Sao Paulo 05303-000Brazil

Congenital central nervous system tumors diagnosed during pregnancy are rare, and often have a poor prognosis. The most frequent type is the teratoma. Use of ultrasound and magnetic resonance image allows the suspicion of brain tumors during pregnancy. However, the definitive diagnosis is only confirmed after birth by histology. The purpose of this mini-review article is to describe the general clinical aspects of intracranial tumors and describe the main fetal brain tumors.

关键词： Fetus Brain tumors Teratoma Ultrasound Magnetic resonance imaging

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Role of sex hormones in gastrointestinal motility in pregnant and non-pregnant rats

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World journal of Gastroenterology 2016年第25期22卷 5761-5768页

作者： juliana fernandes Matos Madileine Francely Americo Yuri Karen Sinzato Gustavo Tadeu Volpato Luciana Aparecida Corá Marcos Felipe Freitas Calabresi Ricardo Brandt oliveira debora Cristina Damasceno jose Ricardo Arruda Miranda Sao Paulo State University BotucatuSP 18618-970Brazil Instituto de Ciencias Biologicas e da Saude Federal University of Mato GrossoBarra do GarcasMT 78600-000Brazil Universidade Estadual de Ciencias da Saude de Alagoas MaceioAL 57010-300Brazil Sao Paulo University Ribeirao PretoSP 14049-900Brazil

AIM: To correlate gastric contractility, gastrointestinal transit, and hormone levels in non-pregnant(estrous cycle) and pregnant rats using noninvasive techniques. METHODS: Female rats(n = 23) were randomly divided into(1) non-pregnant,(contractility, n =6; transit, n = 6); and(2) pregnant(contractility, n = 5; transit, n = 6). In each estrous cycle phase or at 0, 7, 14, and 20 d after the confirmation of pregnancy, gastrointestinal transit was recorded by AC biosusceptometry(ACB), and gastric contractility was recorded by ACB and electromyography. After each recording, blood samples were obtained for progesterone and estradiol determination. RESULTS: In the estrous cycle, despite fluctuations of sex hormone levels, no significant changes in gastrointestinal motility were observed. Days 7 and 14 of pregnancy were characterized by significant changes in the frequency of contractions(3.90 ± 0.42 cpm and 3.60 ± 0.36 cpm vs 4.33 ± 0.25 cpm) and gastric emptying(168 ± 17 min and 165 ± 15 min vs 113 ± 15 min) compared with day 0. On these same days, progesterone levels significantly increased compared with control(54.23 ± 15.14 ng/m L and 129.96 ± 30.52 ng/mL vs 13.25 ± 6.31 ng/mL). On day 14, we observed the highest level of progesterone and the lowest level of estradiol compared with day 0(44.3 ± 15.18 pg/mL vs 24.96 ± 5.96 pg/mL). CONCLUSION: Gastrointestinal motility was unaffected by the estrous cycle. In our data, high progesterone and low estradiol levels can be associated with decreased contraction frequency and slow gastric emptying.

关键词： Reproductive physiological process Sex hormones Gastrointestinal motility Magnetic fields Gastric emptying

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Prevalence and factors associated with non-adherence to therapy among partners of pregnant women with syphilis in a city of northeastern Brazil

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World journal of Obstetrics and Gynecology 2022年第3期11卷 20-32页

作者： Lilian Pinto Mota Rodrigues fernandes Caline Novais Teixeira oliveira Breno Bittencourt de Brito FabrícioFreire de Melo Cláudio Lima Souza Márcio Vasconcelos oliveira Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

BACKGROUND One of the main difficulties faced in the prevention of the vertical transmission of syphilis is the inadequate treatment of pregnant women and their *** disease causes serious repercussions in infected *** To evaluate the prevalence and factors associated with the therapeutic adhesion among partners of pregnant women with syphilis in a county in Northeastern *** This is a descriptive,analytic,quantitative,cross-sectional study that was carried out through interviews with 46 pregnant women diagnosed with syphilis between 2017 and 2018 as well as with their *** interviews aimed at collecting data regarding sociodemographic characteristics,obstetric variables and information about syphilis,and partners’related *** Our results showed that 73.91%of the partners did not undergo appropriate treatments,and obtaining negative results in syphilis tests was the main reason for the absence of *** following factors were significantly associated with the lack of treatment among partners:Being a partner that is not the current mate of the pregnant woman,having a level of schooling inferior to 8 years[oddsratio(OR)=10.28],and the pregnant woman undergoing up to two syphilis tests during the prenatal care(OR=8.6).The study found a higher odds of absent treatment among partners if the pregnant woman is not white(OR=13.88)or if the partner has less than 8 years of schooling(OR=21.00)or has a monthly income of less than half the minimum wage(OR=13.93).CONCLUSION The findings of this study show a high prevalence of partners that are not adequately treated for syphilis,a phenomenon that is strongly associated with socioeconomic factors.

关键词： Partners Syphilis Syphilis in pregnancy Treatment Pregnant women Prevalence

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Performance and calibration of quark/gluon-jet taggers using 140 fb^(-1) of pp collisions at √s=13 TeV with the ATLAS detector

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Chinese Physics C 2024年第2期48卷 1-25页

作者： G. Aad B. Abbott K. Abeling N.j. Abicht S.H. Abidi A. Aboulhorma H. Abramowicz H. Abreu Y. Abulaiti B.S. Acharya C. Adam Bourdarios L. Adamczyk S.V. Addepalli M.j. Addison j. Adelman A. Adiguzel T. Adye A.A. Affolder Y. Afik M.N. Agaras j. Agarwala A. Aggarwal C. Agheorghiesei A. Ahmad F. Ahmadov W.S. Ahmed S. Ahuja X. Ai G. Aielli A. Aikot M. Ait Tamlihat B. Aitbenchikh I. Aizenberg M. Akbiyik T.P.A. Åkesson A.V. Akimov D. Akiyama N.N. Akolkar K. Al Khoury G.L. Alberghi j. Albert P. Albicocco G.L. Albouy S. Alderweireldt M. Aleksa I.N. Aleksandrov C. Alexa T. Alexopoulos F. Alfonsi M. Algren M. Alhroob B. Ali H.M.j. Ali S. Ali S.W. Alibocus M. Aliev G. Alimonti W. Alkakhi C. Allaire B.M.M. Allbrooke j.F. Allen C.A. Allendes Flores P.P. Allport A. Aloisio F. Alonso C. Alpigiani M. Alvarez Estevez A. Alvarez Fernandez M. Alves Cardoso M.G. Alviggi M. Aly Y. Amaral Coutinho A. Ambler C. Amelung M. Amerl C.G. Ames D. Amidei S.P. Amor Dos Santos K.R. Amos V. Ananiev C. Anastopoulos T. Andeen j.K. Anders S.Y. Andrean A. Andreazza S. Angelidakis A. Angerami A.V. Anisenkov A. Annovi C. Antel M.T. Anthony E. Antipov M. Antonelli F. Anulli M. Aoki T. Aoki j.A. Aparisi Pozo M.A. Aparo L. Aperio Bella C. Appelt A. Apyan N. Aranzabal S.j. Arbiol Val C. Arcangeletti A.T.H. Arce E. Arena j-F. Arguin S. Argyropoulos j.-H. Arling O. Arnaez H. Arnold G. Artoni H. Asada K. Asai S. Asai N.A. Asbah j. Assahsah K. Assamagan R. Astalos S. Atashi R.j. Atkin M. Atkinson H. Atmani P.A. Atmasiddha K. Augsten S. Auricchio A.D. Auriol V.A. Austrup G. Avolio K. Axiotis G. Azuelos D. Babal H. Bachacou K. Bachas A. Bachiu F. Backman A. Badea P. Bagnaia M. Bahmani A.j. Bailey V.R. Bailey j.T. Baines L. Baines O.K. Baker E. Bakos D. Bakshi Gupta V. Balakrishnan R. Balasubramanian E.M. Baldin P. Balek E. Ballabene F. Balli L.M. Baltes W.K. Balunas j. Balz E. Banas M. Bandieramonte A. Bandyopadhyay S. Bansal L. Barak M. Barakat E.L. Barberio D. Barberis M. Barbero M.Z. Barel K.N. Barends T. Barillari M-S. Barisits T. Barklow P. Baron D.A. Baron Mo The ATLAS Collaboration

The identification of jets originating from quarks and gluons,often referred to as quark/gluon tagging,plays an important role in various analyses performed at the Large Hadron Collider,as Standard Model measurements and searches for new particles decaying to quarks often rely on suppressing a large gluon-induced *** paper describes the measurement of the efficiencies of quark/gluon taggers developed within the ATLAS Collaboration,using √s=13 TeV proton–proton collision data with an integrated luminosity of 140 fb^(-1) collected by the ATLAS *** taggers with high performances in rejecting jets from gluon over jets from quarks are studied:one tagger is based on requirements on the number of inner-detector tracks associated with the jet,and the other combines several jet substructure observables using a boosted decision tree.A method is established to determine the quark/gluon fraction in data,by using quark/gluon-enriched subsamples defined by the jet *** in tagging efficiency between data and simulation are provided for jets with transverse momentum between 500 GeV and 2 TeV and for multiple tagger working points.

关键词： ATLAS jET QUARK GLUON TAGGING

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Historical Case Report: 45 Years of the First Plastic Surgery in Morbid Obese in Brazil and Their Weight Loss

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Modern Plastic Surgery 2020年第3期10卷 82-92页

作者： josé Humberto Cardoso Resende Cristine Mara Fragoso Dos Santos oliveira Heitor Dos Santos Leã o Bruno Viana Martins Brenda Martins fernandes Valentina Ruvieri Silveira juliana Araújo Naves Ítalo julierme Barros Duarte Emídio Silva Falcã o Brasileiro UNIFAN Coordinator of the Work Aparecida de Goi&#226 nia Brazil UNIFAN Academics of Medicine Aparecida de Goi&#226 nia Brazil UNIFAN Coordinator of Research Aparecida de Goi&#226 nia Brazil

Before the 70s, in Brazil, each city had its morbidly obese, considered as the “excessive fats”, in very small numbers if we compare it with the current percentage. There was no classification of the degree of obesity by the body mass index (BMI) as we have today. By chance, on a Saturday in june 1975, at the Outpatient Clinic of the 23rd Infirmary of Santa Casa da Misericórdia Hospital in Rio de janeiro, arrived the patient I. S., 41 years old, 1.70 m tall, supported by her two children, weighing 210 kg in weight body. Knowing that bariatric surgery only appeared in the 1980s, before that, patients with morbid obesity were left to their own devices, with hypertension and diabetes. The patient I. S. was hospitalized for 3 years in our Plastic Surgery Service, having received nutritional monitoring, had sporadic discharges and undergone 9 reparative plastic surgeries. She was discharged weighing 71 kg, with self-esteem recovered and happy to start a new life, without hypertension and diabetes.

关键词： Obesity Hypertension Diabetes Plastic Surgery Slimming

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Streptococcus agalactiae:Sensitivity profile in pregnant women attending health units in northeastern Brazil

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World journal of Obstetrics and Gynecology 2020年第1期9卷 11-17页

作者： Tais Viana Ledo de oliveira Fabrícia Almeida fernandes Santana Caline Novais Teixeira oliveira Maria Luísa Cordeiro Santos Fabrício Freire de Melo Cláudio Lima Souza Márcio Vasconcelos oliveira Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

BACKGROUNDG roup B Streptococcus agalactiae (GBS) is the main etiologic agent associated withearly-onset neonatal sepsis, and of all newborns of parturients colonized by GBS,approximately 1%-2% develop invasive, early-onset disease. The risk of infectionincreases to 15.2% in premature neonates, to 10.7% when the parturient haschorioamnionitis or premature rupture of membranes for more than 24 h and to9.7% if the mother has postpartum bacteremia. In addition to causing perinatal,neonatal and postnatal deaths, neonatal hospital infection is associated with highcosts, as hospitalization is three times longer than in uninfected children. Theidentification of pregnant women colonized by GBS, through universal screening,associated with the adoption of appropriate antibiotics at the time of delivery arethe most successful preventive *** evaluate the sensitivity profile of GBS isolated from pregnant womenattending Vitória da *** This is a cross-sectional study with a quantitative approach carried out in themunicipality of Vitória da Conquista-Bahia between February 2017 and March2018. The study population was composed of 210 pregnant women, with agestational age of 32 to 40 wk, who were aged 18 years or older living in the urbanarea of the municipality of Vitória da Conquista. After a brief explanation aboutthe research and obtaining a signed an informed consent form, data andvaginorectal swabs were collected from the women for GBS research. Examinationof the samples in order to identify the presence of GBS was by culture on sheep blood agar and chromogenic agar for GBS and then, seeded on plates containingstreptococcal culture medium and incubated for 18 h to 24 h at 35°C. Theantimicrobial sensitivity profile of positive GBS samples was determined by thedisk diffusion technique, according to the Clinical and Laboratory StandardsInstitute manual (2017). The data obtained were stored in a database usingMicrosoft Office Excel spreadsheets and a des

关键词： Streptococcus agalactiae Sensitivity profile Pregnancy Clindamycin Erythromycin Group B streptococcal disease

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