检索结果-内蒙古大学图书馆

Standards of Care for the Health of Transgender and Gender Diverse People, Version 8 (vol 23, pg S1, 2022)

INTERNATIONAL JOURNAL OF TRANSGENDER HEALTH 2022年第Suppl 1期23卷 S259-S261页

作者： Coleman, E. Radix, A. E. Bouman, W. P. Brown, G. R. de Vries, A. L. C. Deutsch, M. B. Ettner, R. Fraser, L. Goodman, M. Green, J. Hancock, A. B. Johnson, T. W. Karasic, D. H. Knudson, G. A. Leibowitz, S. F. Meyer-Bahlburg, H. F. L. Monstrey, S. J. Motmans, J. Nahata, L. Arcelus, J. Institute for Sexual and Gender Health Department of Family Medicine and Community Health University of Minnesota Medical School Minneapolis MN USA Callen-Lorde Community Health Center New York NY USA Department of Medicine NYU Grossman School of Medicine New York NY USA Nottingham Centre for Transgender Health Nottingham UK School of Medicine University of Nottingham Nottingham UK James H. Quillen College of Medicine East Tennessee State University Johnson City TN USA James H. Quillen VAMC Johnson City TN USA Department of Child and Adolescent Psychiatry Amsterdam UMC Location Vrije Universiteit Amsterdam Amsterdam Netherlands Center of Expertise on Gender Dysphoria Amsterdam UMC Location Vrije Universiteit Amsterdam Amsterdam The Netherlands Department of Family & Community Medicine University of California-San Francisco San Francisco CA USA UCSF Gender Affirming Health Program San Francisco CA USA New Health Foundation Worldwide Evanston IL USA Weiss Memorial Hospital Chicago IL USA Independent Practice San Francisco CA USA Emory University Rollins School of Public Health Atlanta GA USA Independent Scholar Vancouver WA USA The George Washington University Washington DC USA Department of Anthropology California State University Chico CA USA University of California San Francisco San Francisco CA USA Independent Practice at *** University of British Columbia Vancouver Canada Vancouver Coastal Health Vancouver Canada Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL USA New York State Psychiatric Institute New York NY USA Department of Psychiatry Columbia University New York NY USA Ghent University Hospital Gent Belgium Transgender Infopunt Ghent University Hospital Gent Belgium Centre for Research on Culture and Gender Ghent University Gent Belgium Department of Pediatrics The Ohio State University College of Medicine Columbus OH USA Endocrinology and Center for Biobehavioral Health The Abigail Wexner Research

Background: Transgender healthcare is a rapidly evolving interdisciplinary field. In the last decade, there has been an unprecedented increase in the number and visibility of transgender and gender diverse (TGD) people seeking support and gender-affirming medical treatment in parallel with a significant rise in the scientific literature in this area. The World Professional Association for Transgender Health (WPATH) is an international, multidisciplinary, professional association whose mission is to promote evidence-based care, education, research, public policy, and respect in transgender health. One of the main functions of WPATH is to promote the highest standards of health care for TGD people through the Standards of Care (SOC). The SOC was initially developed in 1979 and the last version (SOC-7) was published in 2012. In view of the increasing scientific evidence, WPATH commissioned a new version of the Standards of Care, the SOC-8. Aim: The overall goal of SOC-8 is to provide health care professionals (HCPs) with clinical guidance to assist TGD people in accessing safe and effective pathways to achieving lasting personal comfort with their gendered selves with the aim of optimizing their overall physical health, psychological well-being, and self-fulfillment. Methods: The SOC-8 is based on the best available science and expert professional consensus in transgender health. International professionals and stakeholders were selected to serve on the SOC-8 committee. Recommendation statements were developed based on data derived from independent systematic literature reviews, where available, background reviews and expert opinions. Grading of recommendations was based on the available evidence supporting interventions, a discussion of risks and harms, as well as the feasibility and acceptability within different contexts and country settings. Results: A total of 18 chapters were developed as part of the SOC-8. They contain recommendations for health care professiona

关键词： adolescents assessment children communication education endocrinology eunuch gender diverse health care professional institutional settings intersex mental health nonbinary population postoperative care primary care reproductive health sexual health SOC8 Standards of Care surgery terminology transgender voice

来源：评论

学校读者我要写书评

暂无评论

Pheochromocytoma Resection: The Rule of Surgical Divergence

引用

AACE Clinical Case Reports 2016年第1期2卷 e78-e79页

作者： Pacak, Karel Program in Reproductive and Adult Endocrinology Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland

来源：评论

学校读者我要写书评

暂无评论

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

引用

The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

关键词：

来源：评论

学校读者我要写书评

暂无评论

Recent advances in the development of transdermal delivery systems for treatment of infertility

引用

Research and Reports in Transdermal Drug Delivery 2015年 4卷 1页

作者： Matthew T Connell Alan H DeCherney Micah J Hill Program in Reproductive and Adult Endocrinology Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD USA

:In vitro fertilization (IVF) has been utilized since the late 1970s. Since the time of the first successful pregnancy, use of IVF medication has changed over the years in regards to potency, timing, and types of medications given. Most commonly, these medications are given using a hypodermic needle, which causes some discomfort to the patient. Transdermal medications have several benefits, and this route could someday be utilized more frequently in IVF cycles. In this review, the current uses of transdermal medications in IVF are discussed, as well as future potential therapies.

关键词： in vitro fertilization transdermal estradiol testosterone

来源：评论

学校读者我要写书评

暂无评论

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

引用

Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Functional Imaging Experience in a Germline Fumarate Hydratase Mutation–Positive Patient With Pheochromocytoma and Paraganglioma

引用

AACE Clinical Case Reports 2016年第3期2卷 e176-e181页

作者： Nambuba, Joan Därr, Roland Janssen, Ingo Bullova, Petra Adams, Karen T. Millo, Corina Bourdeau, Isabelle Kassai, Andrea Yang, Chunzhang Kebebew, Electron Zhuang, Zhengping Pacak, Karel Program in Reproductive and Adult Endocrinology Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland Department of Molecular Medicine Institute of Virology Slovak Academy of Sciences Bratislava Slovakia Positron Emission Tomography Department Warren Grant Magnuson Clinical Center National Institutes of Health Bethesda Maryland Division of Endocrinology Department of Medicine centre Hospitalier de l'Universtié de Montréal (CHUM) Montréal Quebec Canada Diabetes Endocrinology and Obesity Branch National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health Bethesda Maryland Surgical Neurology Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland Endocrine Oncology Branch National Cancer Institute National Institutes of Health Bethesda Maryland

Objective: To report the functional imaging experience with a 29-year-old woman carrying a mutation in the fumarate hydratase (FH)-encoding gene and a history of a pheochromocytoma (PHEO) and retroperitoneal paraganglioma (PGL). Methods: The patient was found to have a splice-site mutation in the FH gene at intron 2, c.268-2A>G. To confirm this, immunohistochemical staining was performed on tumor tissue slides from the patient's previous surgeries. The patient underwent biochemical testing for PHEO/PGL, which included chromogranin A and plasma methoxytyramine. The patient's tumors were also imaged using several imaging modalities, including computed tomography (CT), magnetic resonance imaging, ultrasound, and positron emission tomography (PET)/CT studies using [¹⁸F]-fluorodeoxyglucose ([¹⁸F]-FDG), [¹⁸F]-fluorodopamine ([¹⁸F]-FDA), [¹⁸F]-fluorodihydroxyphenylalanine ([¹⁸F]-FDOPA), and [⁶⁸Ga]-tetraazacyclododecanetetraacetic acid–[Tyr3]-octreotate ([⁶⁸Ga]-DOTATATE) as tracers. Results: The patient received a comprehensive evaluation based on her symptoms and medical history. She was found to have 3 noradrenergic-secreting tumors that showed uptake on [¹⁸F]-FDG-(2/3), [⁶⁸Ga]-DOTATATE-(2/3), [¹⁸F]-FDOPA-(3/3), and [¹⁸F]-FDA-(3/3) PET/CT. The patient was recommended to have the tumor sites removed (renal hilum, aortocaval, and periaortic regions) with lympadenectomies to address possible metastases. Pathology confirmed paraganglioma. Immunohistochemical staining from previous surgical slides showed negative staining for FH, consistent with a mutation in the gene. Conclusion: We share, for the first time, functional images for an FH mutation–positive PHEO/PGL patient using various PET radiopharmaceuticals. [¹⁸F]-FDA- and [¹⁸F]-FDOPA PET/CT served

关键词：

来源：评论

学校读者我要写书评

暂无评论

Clinical Case Report: LECT2-Associated Adrenal Amyloidosis

引用

AACE Clinical Case Reports 2015年第1期1卷 e59-e67页

作者： Rauschecker, Mitra L. Cologna, Stephanie M. Xekouki, Paraskevi Nilubol, Naris Shamburek, Robert D. Merino, Maria Backlund, Peter S. Yergey, Alfred L. Kebebew, Electron Balow, James E. Stratakis, Constantine A. Abraham, Smita Baid Program in Reproductive and Adult Endocrinology Program on Developmental Endocrinology and Genetics Endocrine Oncology Branch National Cancer Institute Cardiovascular and Pulmonary Branch National Heart Lung and Blood Institute Translational Surgical Pathology Section Laboratory of Pathology National Cancer Institute Biomedical Mass Spectrometry Facility the Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institute of Diabetes and Digestive and Kidney Disease

Objective: Leukocyte chemotactic factor-2 (LECT2)- associated amyloidosis is a newly discovered cause of amyloid and has thus far been reported to involve only the kidneys. We report a case of amyloidosis of the adrenal gland, along with involvement of the kidney, in a patient with primary aldosteronism. Methods: Tissue samples from the patient were analyzed using tandem mass spectrometry to identify the amyloid protein, followed by Western blot. DNA sequencing was performed to evaluate genetic polymorphisms. Results: Tandem mass spectrometry identified the amyloid protein as LECT2, and its identity was confirmed by Western blot. Genetic analysis revealed the patient to be homozygous for a genetic polymorphism of the LECT2 gene. Serum levels of LECT2 were undetectable, and no mutations were found in the CTNNB1, KCNJ5, ATP1A1, or ATP2B3 genes. Conclusion: This case appears to be the first published report to describe LECT 2-associated amyloidosis both outside of the kidney and within the adrenal gland. Abbreviations: CT computed tomography CTNNB1 catenin (cadherin-associated protein), beta 1 LDL low-density lipoprotein LECT2 leukocyte chemotactic factor-2 LECT2 AA LECT2-associated amyloid A amyloidosis PA primary aldosteronism SDS sodium dodecyl sulfate © 2015 Elsevier Inc.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia

引用

Human Genome Variation 2015年第1期2卷 1-2页

作者： Yang, Chunzhang Hong, Christopher S. Prchal, Josef T. Balint, Melina T. Pacak, Karel Zhuang, Zhengping Surgical Neurology Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda MD United States Division of Hematology and Hematological Malignancies University of Utah VAH and ARUP Salt Lake City UT United States Institute for Transfusiology and Hemobiology of MMA Institute for Medical Research University of Belgrade Belgrade Serbia Program in Reproductive and Adult Endocrinology Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD United States

We recently described a novel, non-inherited syndrome of tumor-specific mutations of hypoxia-inducible factor 2α, encoded by EPAS1, leading to formation of multiple paragangliomas and somatostatinomas in the setting of congenital polycythemia. Although we had suspected that somatic mosaicism of EPAS1 mutations was the underlying cause of tumorigenesis, we could not validate this theory in our initial findings. In this report, we developed a sensitive, peptide nucleic acid sequencing assay to uncover the presence of EPAS1 mutations in blood and other somatic tissues of the two patients who were described in the initial characterization of this syndrome. As such, the current study demonstrates that the underlying pathogenesis of the syndrome of multiple paraganglioma and somatostatinoma formation with congenital polycythemia is somatic mosaicism of EPAS1 mutations. © 2015 The Japan Society of Human Genetics.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Pendrin localizes to the adrenal medulla and modulates catecholamine release (vol 309, pg 534, 2015)

引用

AMERICAN JOURNAL OF PHYSIOLOGY-endocrinology AND METABOLISM 2015年第10期309卷 E885-E885页

作者： Lazo-Fernandez, Y. Aguilera, G. Pham, T. D. Park, A. Y. Beierwaltes, W. H. Sutliff, R. L. Verlander, J. W. Pacak, K. Osunkoya, A. O. Ellis, C. L. Kim, Y. H. Shipley, G. L. Wynne, B. M. Hoover, R. S. Sen, S. K. Plotsky, P. M. Wall, S. M. 1Department of Medicine Emory University School of Medicine Atlanta Georgia 2Section on Endocrine Physiology Developmental Endocrinology Branch Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland 1Department of Medicine Emory University School of Medicine Atlanta Georgia 1Department of Medicine Emory University School of Medicine Atlanta Georgia 3Hypertension and Vascular Research Division Henry Ford Hospital and Wayne State School of Medicine Detroit Michigan 1Department of Medicine Emory University School of Medicine Atlanta Georgia 4Atlanta Veterans Affairs Hospital Atlanta Georgia 5Department of Medicine University of Florida Gainesville Florida 6Program in Reproductive and Adult Endocrinology Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland 7Department of Pathology Emory University School of Medicine Atlanta Georgia 7Department of Pathology Emory University School of Medicine Atlanta Georgia 1Department of Medicine Emory University School of Medicine Atlanta Georgia 8Department of Integrative Biology and Pharmacology University of Texas Medical School at Houston Houston Texas 1Department of Medicine Emory University School of Medicine Atlanta Georgia 1Department of Medicine Emory University School of Medicine Atlanta Georgia 4Atlanta Veterans Affairs Hospital Atlanta Georgia 11Department of Physiology Emory University School of Medicine Atlanta Georgia 9Cardiovascular Disease Section and National Human Genome Research Institute National Institutes of Health Bethesda Maryland 10Department of Psychiatry Emory University School of Medicine Atlanta Georgia and 1Department of Medicine Emory University School of Medicine Atlanta Georgia 11Department of Physiology Emory University School of Medicine Atlanta Georgia

Pendrin (Slc26a4) is a Cl?/HCO3? exchanger expressed in renal intercalated cells and mediates renal Cl? absorption. With pendrin gene ablation, blood pressure and vascular volume fall, which increases plasma renin con... 详细信息

Pendrin (Slc26a4) is a Cl^?/HCO₃^? exchanger expressed in renal intercalated cells and mediates renal Cl^? absorption. With pendrin gene ablation, blood pressure and vascular volume fall, which increases plasma renin concentration. However, serum aldosterone does not significantly increase in pendrin-null mice, suggesting that pendrin regulates adrenal zona glomerulosa aldosterone production. Therefore, we examined pendrin expression in the adrenal gland using PCR, immunoblots, and immunohistochemistry. Pendrin protein was detected in adrenal lysates from wild-type but not pendrin-null mice. However, immunohistochemistry and qPCR of microdissected adrenal zones showed that pendrin was expressed in the adrenal medulla, rather than in cortex. Within the adrenal medulla, pendrin localizes to both epinephrine- and norepinephrine-producing chromaffin cells. Therefore, we examined plasma catecholamine concentration and blood pressure in wild-type and pendrin-null mice under basal conditions and then after 5 and 20 min of immobilization stress. Under basal conditions, blood pressure was lower in the mutant than in the wild-type mice, although epinephrine and norepinephrine concentrations were similar. Catecholamine concentration and blood pressure increased markedly in both groups with stress. With 20 min of immobilization stress, epinephrine and norepinephrine concentrations increased more in pendrin-null than in wild-type mice, although stress produced a similar increase in blood pressure in both groups. We conclude that pendrin is expressed in the adrenal medulla, where it blunts stress-induced catecholamine release.

关键词： pendrin chloride epinephrine norepinephrine dopamine

来源：评论

学校读者我要写书评

暂无评论

Luteal phase support with human chorionic gonadotropin in assisted reproductive technology

引用

Expert Review of Obstetrics and Gynecology 2013年第4期8卷 319-328页

作者： Lewis, Erin I. Decherney, Alan H. Department of Obstetrics and Gynecology UCLA Medical Center Los Angeles CA United States Program in Reproductive and Adult Endocrinology Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD United States

The luteal phase is a critical component in supporting early pregnancy by forming the corpus luteum, and priming the endometrium for implantation following conception. Unfortunately, in assisted reproductive technology, ovarian stimulation protocols disrupt the hormonal milieu of the menstrual cycle, resulting in a largely defective luteal phase. For the last three decades, the optimum regimen for luteal phase support in assisted reproductive technology has been explored. Human chorionic gonadotropin was one of the first agents utilized to rescue the corpus luteum, given its high affinity for luteinizing hormone receptor. In this article, the author will summarize the role of human chorionic gonadotropin for luteal support in improving reproductive outcomes. © 2013 2013 Informa UK Ltd.

关键词： assisted reproductive technology human chorionic gonadotropin in vitro fertilization infertility luteal phase support ovarian hyperstimulation syndrome

来源：评论

学校读者我要写书评

暂无评论

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

请选择保存的检索档案：

请选择收藏分类：

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

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

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：