260 results match your criteria: "A.L.H.; Royal Alexandra Hospital P.E.[Affiliation]"

Unrestrictive Aortopulmonary Window: Extreme Presentation as Non-Eisenmenger in a 30-Year-Old Patient.

Circulation

May 2016

From Divisions of Cardiovascular Surgery (P.O.M., A.K.), Pulmonary Hypertension Program (P.O.M., F.L., A.-L.H., S.N., M.L., M.B.), Pneumology (F.L.), Radiology (A.-L.H.), Cardiology (J.B., S.N.), Anesthesiology (M.L.), and Pathology (J.-C.P.), Geneva University Hospitals & Faculty of Medicine, Switzerland; Cardiology Clinic, Clinical Center of Serbia, Belgrade (D.-K.O.); University Children's Hospital, Belgrade, Serbia (M.D.); and Unit of Pediatric Cardiology, Children's University Hospital Geneva, Switzerland (M.B.).

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The Diagnostic Value of MR Imaging in Determining the Lymph Node Status of Patients with Non-Small Cell Lung Cancer: A Meta-Analysis.

Radiology

October 2016

From the Department of Radiation Oncology (MAASTRO Clinic), GROW School for Oncology and Developmental Biology (J.P., E.G.C.T., A.L.H.), Department of Radiology (J.P., R.G.H.B.), and Department of Epidemiology (P.J.N.), Maastricht University Medical Centre, Dr. Tanslaan 12, 6229 ET Maastricht, the Netherlands; Department of Radiation Oncology, University Medical Centre, Utrecht, the Netherlands (D.C.P.C., J.C.J.d.B.); and Department of Radiation Oncology, Dr Bernard Verbeeten Institute, Tilburg, the Netherlands (D.C.P.C.).

Purpose To summarize existing evidence of thoracic magnetic resonance (MR) imaging in determining the nodal status of non-small cell lung cancer (NSCLC) with the aim of elucidating its diagnostic value on a per-patient basis (eg, in treatment decision making) and a per-node basis (eg, in target volume delineation for radiation therapy), with results of cytologic and/or histologic examination as the reference standard. Materials and Methods A systematic literature search for original diagnostic studies was performed in PubMed, Web of Science, Embase, and MEDLINE. The methodologic quality of each study was evaluated by using the Quality Assessment of Diagnostic Accuracy Studies 2, or QUADAS-2, tool.

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Pediatric Cortical Vein Thrombosis: Frequency and Association With Venous Infarction.

Stroke

March 2016

From the Mountain States Regional Hemophilia and Thrombosis Center, University of Colorado Denver, Aurora (Z.R., A.L.H., T.J.B.); Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora (D.W.); Department of Radiology, Children's Hospital Colorado, Aurora (L.Z.F., N.V.S.); and Departments of Pediatrics and Pediatric Neurology, Children's Hospital Colorado, Aurora (E.C.M., T.J.B.).

Article Synopsis
  • The study focuses on pediatric cortical vein thrombosis (CVT), a rare type of cerebral sinovenous thrombosis, and examines its clinical features compared to cases without CVT.
  • Researchers reviewed cases of children diagnosed with cerebral sinovenous thrombosis, identifying significant differences in symptoms, imaging results, and outcomes for those with CVT.
  • Results indicate that CVT is linked to a higher likelihood of seizures, hemorrhage, restricted diffusion, and worse long-term neurological outcomes, highlighting the need for more awareness and management strategies for this condition in children.
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Clinical Management of Ebola Virus Disease in the United States and Europe.

N Engl J Med

February 2016

From the Centers for Disease Control and Prevention (T.M.U., J.G.) and the Division of Infectious Diseases, Emory University School of Medicine (A.K.M.) - both in Atlanta; the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD (R.T.D.); Texas Health Presbyterian Hospital Dallas, Dallas (A.M.L.); the Department of Infectious Diseases, University Hospital Frankfurt, Frankfurt am Main (T.W.), the First Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg (S.S.), and Leipzig Treatment Center for Highly Contagious Diseases, Klinikum St. Georg, Leipzig (T.G.) - all in Germany; the Division of Infectious Diseases and Laboratory of Virology, Geneva University Hospitals, Geneva (P.V.); the Department of Infection, Royal Free London NHS Foundation Trust, London (M.J.); the Internal Medicine Department, Infectious Diseases Unit Madrid, Hospital La Paz-Carlos III IdiPAZ, Madrid (J.R.A.); New York University School of Medicine-Bellevue Hospital Center, New York (L.E.); University of Nebraska Medical Center, Omaha (A.L.H.); the Departments of Infectious Diseases and Acute Medicine, Oslo University Hospital, Oslo (A.B.B.); Lazzaro Spallanzani National Institute for Infectious Diseases, Rome (G.I.); the Infectious and Tropical Diseases Department, Bégin Military Hospital, Saint-Mandé, France (C.R.); and the Department of Internal Medicine and Infectious Diseases, University Medical Center Utrecht, Utrecht, the Netherlands (A.I.M.H.).

Background: Available data on the characteristics of patients with Ebola virus disease (EVD) and clinical management of EVD in settings outside West Africa, as well as the complications observed in those patients, are limited.

Methods: We reviewed available clinical, laboratory, and virologic data from all patients with laboratory-confirmed Ebola virus infection who received care in U.S.

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Cerebral Reorganization after Hemispherectomy: A DTI Study.

AJNR Am J Neuroradiol

May 2016

From the Section of Pediatric Neuroradiology (A.M., T.A.G.M.H., A.P.)

Background And Purpose: Hemispherectomy is a neurosurgical procedure to treat children with intractable seizures. Postsurgical improvement of cognitive and behavioral functions is observed in children after hemispherectomy suggesting plastic reorganization of the brain. Our aim was to characterize changes in DTI scalars in WM tracts of the remaining hemisphere in children after hemispherectomy, assess the associations between WM DTI scalars and age at the operation and time since the operation, and evaluate the changes in GM fractional anisotropy values in patients compared with controls.

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Endometrial Expression of Estrogen Receptors and the Androgen Receptor in Women With Polycystic Ovary Syndrome: A Lifestyle Intervention Study.

J Clin Endocrinol Metab

February 2016

Division of Obstetrics and Gynecology (M.H., Å.N, A.L.H.) and Pediatric Endocrinology Unit (M.H. L.S.), Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; National O. Bohomolets Medical University (M.H.), Kyiv, Ukraine; Department of Clinical Nutrition and Dietetics (Å.N.), Karolinska University Hospital, Stockholm, Sweden.

Context: Polycystic ovary syndrome (PCOS) is a common cause of anovulation. It may also negatively affect the endometrium, which could lead to implantation failure and proliferative aberrations.

Objective: Our objective was to study sex hormone receptors in the endometrium of women with PCOS.

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Glycemic modulation in neuro-oncology: experience and future directions using a modified Atkins diet for high-grade brain tumors.

Neurooncol Pract

September 2015

Department of Neurology , Johns Hopkins School of Medicine, Baltimore, Maryland (R.E.S., M.C.C., E.H.K., A.L.H., J.O.B.); Department of Pediatrics , Johns Hopkins School of Medicine, Baltimore, Maryland (E.H.K., A.L.H.); Department of Oncology , Johns Hopkins School of Medcine , Baltimore, Maryland (J.O.B.); Institute for Clinical and Translational Research , Johns Hopkins School of Medicine, Baltimore, Maryland (B.J.H.).

Dietary glycemic modulation through high-fat, low-carbohydrate diets, which induce a state of systemic ketosis and alter systemic metabolic signaling, have been incorporated into the clinical management of patients with neurological disease for more than a century. Mounting preclinical evidence supports the antitumor, proapoptotic, and antiangiogenic effects of disrupting glycolytic metabolism through dietary intervention. In recent years, interest in incorporating such novel therapeutic strategies in neuro-oncology has increased.

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Soluble Urokinase Receptor and Chronic Kidney Disease.

N Engl J Med

November 2015

From the Division of Cardiology, Emory Clinical Cardiovascular Research Institute, Emory University School of Medicine (S.S.H., Y.-A.K., M.A., L.S.S., S.L., A.A.Q.), and the Department of Biostatistics and Bioinformatics, Emory University (Y.-A.K.) - both in Atlanta; the Department of Medicine, Harvard Medical School, Boston, and Division of Nephrology, Massachusetts General Hospital, Charlestown - both in Massachusetts (S.S.); the Department of Pediatrics, NYU Langone Medical Center, New York (H.T.); and the Department of Medicine, Rush University Medical Center (S.W., M.M.A., C.W., A.L.F., J.R.), and the Women's Interagency HIV Study/CORE Center of Cook County (A.L.H., A.L.F.) - both in Chicago.

Background: Relatively high plasma levels of soluble urokinase-type plasminogen activator receptor (suPAR) have been associated with focal segmental glomerulosclerosis and poor clinical outcomes in patients with various conditions. It is unknown whether elevated suPAR levels in patients with normal kidney function are associated with future decline in the estimated glomerular filtration rate (eGFR) and with incident chronic kidney disease.

Methods: We measured plasma suPAR levels in 3683 persons enrolled in the Emory Cardiovascular Biobank (mean age, 63 years; 65% men; median suPAR level, 3040 pg per milliliter) and determined renal function at enrollment and at subsequent visits in 2292 persons.

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Radiologic Professionalism in Modern Health Care.

Radiographics

October 2015

From the Department of Radiology, Tufts Medical Center, 800 Washington St, Boston, MA 02111 (A.L.H.); Department of Radiology, Stanford University Medical Center, Palo Alto, Calif (K.H.); Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Mass (R.L.E.); Institute for Professionalism and Ethical Practice (E.C.M., S.D.B.) and Department of Radiology (S.D.B.), Boston Children's Hospital, Boston, Mass.

Modern radiology is at the forefront of technological progress in medicine, a position that often places unique challenges on its professional character. This article uses "Medical Professionalism in the New Millennium: A Physician Charter," a document published in 2002 and endorsed by several major radiology organizations, as a lens for exploring professional challenges in modern radiology. The three main tenets of the Charter emphasize patient welfare, patient autonomy, and the reduction of disparities in health care distribution.

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Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.

J Clin Endocrinol Metab

September 2015

Department of Endocrinology, Metabolism and Diabetes (H.F.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, SE-171 76 Karolinska Institutet (H.F.), Stockholm, Sweden; Department of Clinical Neuroscience (L.F.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Child and Adolescent Psychiatry Research Center (L.F.), SE-113 30 Stockholm, Sweden; Department of Obstetrics and Gynaecology (A.L.H.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Women's and Children's Health (A.L.H., Ag.N., An.N.), SE-171 76 Karolinska Institutet, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics (C.N., C.A.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Lung and Allergy Unit (C.A.), Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE-171 64 Stockholm, Sweden; Center for Molecular Medicine (Ag.N.), Karolinska Institutet, SE-171 76 Stockholm, Sweden; and Paediatric Surgery (Ag.N.) and Department of Paediatric Endocrinology (An.N.), Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE-171 64 Stockholm, Sweden.

Context: Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity.

Objective: This study aimed to study cardiovascular and metabolic morbidity in CAH.

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Microbiology for Radiologists: How to Minimize Infection Transmission in the Radiology Department.

Radiographics

April 2016

From the Department of Diagnostic Radiology, Allegheny Health Network, Allegheny General Hospital, 320 E North Ave, Pittsburgh, PA 15212 (S.K.M., M.S.H.); Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pa (T.R.T.); Aurora Neuroscience Innovation Institute, Aurora St Luke's Medical Center, Milwaukee, Wis (M.B.F.); and Center for Vaccine Research, University of Pittsburgh, Pittsburgh, Pa (A.L.H.).

The implementation of standardized infection control and prevention practices is increasingly relevant as modern radiology practice evolves into its more clinical role. Current Centers for Disease Control and Prevention, National Institutes of Health, and World Health Organization guidelines for the proper use of personal protective equipment, decontamination of reusable medical equipment, and appropriate management of bloodborne pathogen exposures will be reviewed. Standard precautions apply to all patients at all times and are the mainstay of infection control.

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Early Surge in Circulatory Adiponectin Is Associated With Improved Growth at Near Term in Very Preterm Infants.

J Clin Endocrinol Metab

June 2015

Department of Pediatrics (I.H.P.), Institute of Clinical Sciences Lund, Lund University and Skane University Hospital, 221 85 Lund, Sweden; Department of Pediatrics, Institute of Clinical Sciences (G.H.), and Department of Ophthalmology, Institute of Neuroscience and Physiology (A.L.H., A.H., C.L.), The Sahlgrenska Academy at University of Gothenburg, 416 85 Gothenburg, Sweden; and Department of Ophthalmology (L.S.), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115.

Context: Adiponectin enhances insulin sensitivity and may play a role in fetal and postnatal growth.

Objective: This study aimed to determine whether early postnatal adiponectin concentration change is related to postnatal growth in very preterm infants.

Setting, Design, And Patients: This was an in-hospital, prospective, longitudinal cohort study of 52 preterm infants with a gestational age (GA) of 26.

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Benign triton tumour of upper lip- a rare neoplasm at an extremely uncommon site.

J Clin Diagn Res

December 2014

Post Graduate, Department of Pathology, Affiliated to Rajiv Gandhi University of Health Sciences, Adichunchanagiri Institute of Medical Sciences, B. G. Nagar, Mandya, Karnataka, India .

Benign Triton tumours are exceedingly rare tumours occurring predominantly in young children. Fewer than 20 cases have been reported in literature. The tumours develop as masses in various large nerve trunks, the most common of them being the brachial and the sciatic.

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Volumetric blood flow in transjugular intrahepatic portosystemic shunt revision using 3-dimensional Doppler sonography.

J Ultrasound Med

February 2015

Department of Radiology, University of Michigan, Ann Arbor, Michigan USA (S.Z.P., J.M.R., O.D.K., P.M.N., M.V.-V., J.B.F.); and GE Healthcare, Milwaukee, Wisconsin USA (A.L.H.).

Objectives: Three-dimensional (3D)/4-dimensional (4D) sonographic measurement of blood volume flow in transjugular intrahepatic porto systemic shunt revision with the intention of objective assessment of shunt patency.

Methods: A total of 17 patients were recruited (12 male and 5 female; mean age, 55 years; range, 30-69 years). An ultrasound system equipped with a 2.

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Radiographic findings after treatment with balloon brachytherapy accelerated partial breast irradiation.

Radiographics

December 2015

From the Department of Diagnostic Radiology (N.B.I., S.A., A.L.H., M.M., J.C., C.K.), Department of Radiation Oncology (A.M.), and Comprehensive Breast Center (R.Y.), Lahey Hospital and Medical Center, Tufts University Medical School, 41 Mall Rd, Burlington, MA 01805.

The use of accelerated partial breast irradiation (APBI) following breast-conserving surgery is rapidly gaining popularity as an alternative to whole-breast irradiation (WBI) in selected patients with early-stage breast cancer. Although data on the long-term effectiveness and safety of APBI accelerated partial breast irradiation are still being gathered, the shorter treatment course and narrowed radiation target of APBI accelerated partial breast irradiation provide an attractive alternative for carefully selected patients. These patients include those with relatively small tumors (≤3 cm), negative or close margins, and negative sentinel lymph nodes.

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Extra- adrenal silent retroperitoneal paraganglioma: report of a rare case.

J Clin Diagn Res

November 2014

Professor, Department of Surgery, Affiliated to Rajiv Gandhi University of Health Sciences, Adichunchanagiri Institute of Medical Sciences, B. G. Nagar, Mandya, Karnataka, India .

Extra- adrenal retroperitoneal paragangliomas are extremely rare neuroendocrine neoplasms with an incidence of 2-8 per million. They arise from embryonic neural crest cells and are composed mainly of chromaffin cells located in the para- aortic sympathetic chain. They synthesize, store and secrete catecholamines because of which they may present with headache, sweating, palpitation and symptoms of hypertension.

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"Endosalpingiosis" refers to the presence of fallopian tube-like epithelium outside fallopian tubes. It merits attention both by Clinicians and Pathologists since it is a benign, non- neoplastic condition which maybe easily misjudged as carcinoma mainly due to the rarity of its occurrence and lack of awareness owing to paucity of its documentation in literature. Further, salpingiosis can undergo massive cystic change thereby mimicking a tumour when it is referred to as cystic salpingiosis.

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A new frequency-modulated profile reflectometer system, featuring a monostatic antenna geometry (using one microwave antenna for both launch and receive), has been installed on the DIII-D tokamak, providing a first experimental test of this measurement approach for profile reflectometry. Significant features of the new system are briefly described in this paper, including the new monostatic arrangement, use of overmoded, broadband transmission waveguide, and dual-polarization combination/demultiplexing. Updated data processing and analysis, and in-service performance aspects of the new monostatic profile reflectometer system are also presented.

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Primary laryngeal neuroendocrine carcinoma - a rare entity with deviant clinical presentation.

J Clin Diagn Res

September 2014

Professor, Department of Surgery, Affiliated to Rajiv Gandhi University of Health Sciences, Adichunchanagiri Institute of Medical Sciences, B. G. Nagar, Mandya, Karnataka, India .

Primary laryngeal neuroendocrine carcinomas are rare neoplasms. WHO classifies them under five categories of which, the moderately differentiated neuroendocrine carcinoma is synonymous with atypical or malignant carcinoid tumour. We report a rare case of primary laryngeal neuroendocrine carcinoma with an unusual and misleading clinical presentation.

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L-kynurenine/aryl hydrocarbon receptor pathway mediates brain damage after experimental stroke.

Circulation

December 2014

From the Unidad de Investigación Neurovascular, Departamento de Farmacología, Facultad de Medicina, Universidad Complutense and Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain (M.I.C., I.B., J.d.l.P., I.L.); Trinity College, Dublin, Ireland (A.L.H., A.A.-D., E.S.); Departamento Bioquímica y Biología Molecular y Genética, Facultad de Ciencias, Universidad de Extremadura, Badajoz, Spain (P.F.-S.); and Centro de Investigaciones Biológicas, CSIC, Madrid, Spain (A.L.C.).

Background: Aryl hydrocarbon receptor (AhR) is a transcription factor that belongs to the basic helix-loop-helix PAS (Per-Arnt-Sim homology domain) family known to mediate the toxic and carcinogenic effects of xenobiotics. Interestingly, AhR is widely expressed in the central nervous system, but its physiological and pathological roles are still unclear.

Methods And Results: To define the role of AhR in stroke, we used middle cerebral artery occlusion in mice and oxygen-glucose deprivation in rat cortical neurons.

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Primary mucinous eccrine adenocarcinoma, a rare malignant neoplasm of the skin adnexa usually occurs in the head and neck region. The most common sites for its occurrence are the eyelid, the peri-orbital region and the scalp. We report the rare occurrence of primary mucinous eccrine adenocarcinoma of the inguinal region which has been reported in only 1% of cases according to literature search.

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Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

J Clin Endocrinol Metab

December 2014

Department of Endocrinology, Metabolism and Diabetes (H.F.), Department of Obstetrics and Gynecology (A.L.H.), Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery (H.F.), Department of Clinical Neuroscience (L.F.), Department of Medical Epidemiology and Biostatistics (C.N., C.A.), Department of Women's and Children's Health (A.L.H., Ag.N., An.N.), Karolinska Institutet, 171 76 Stockholm, Sweden; Child and Adolescent Psychiatry Research Center (L.F.), Stockholm, SE-11330, Sweden; and Lung and Allergy Unit, (C.A.), Department of Paediatric Surgery (Ag.N), Department of Paediatric Endocrinology (An.N.), Astrid Lindgren Children's Hospital, Karolinska Institutet, 171 76 Solna, Sweden.

Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking.

Objective: This study sought to study mortality and causes of death in CAH.

Design, Setting, And Participants: We studied patients with CAH (21-hydroxylase deficiency, n = 588; CYP21A2 mutations known, >80%), and compared them with controls (n = 58 800).

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Serum androgen levels in elite female athletes.

J Clin Endocrinol Metab

November 2014

International Association of Athletics Federations Medical and Anti-Doping Department and Commission (S.B., P.Y.G., M.S., G.D.), 98000 Monaco; Laboratoire Motricité Humaine Education Sport Santé (S.B.), Nice Sophia Antipolis University, 06107 Nice, France; and Monaco Institute of Sports Medicine and Surgery (S.B.), 98000 Monaco; Department of Women's and Children's Health (A.L.H., M.R.), Karolinska Institutet and University Hospital, SE-141 86 Stockholm, Sweden; Swiss Laboratory for Doping Analyses (N.R., S.G., R.N., N.B., M.S.), University Center of Legal Medicine, Geneva and Lausanne, and Centre Hospitalier Universitaire Vaudois and University of Lausanne, 1005 Lausanne, Switzerland; Department of Reproductive Endocrinology, and INSERM Unité 1065 (P.F.), Hôpital l'Archet, University Hospital of Nice, 06-003 Nice, France; Department of Clinical Chemistry (S.J.B., H.H.), Centre Hospitalier Universitaire, University Hospital of Lausanne, Vaudois, 1011 Lausanne, Switzerland.

Objective: Prior to the implementation of the blood steroidal module of the Athlete Biological Passport, we measured the serum androgen levels among a large population of high-level female athletes as well as the prevalence of biochemical hyperandrogenism and some disorders of sex development (DSD).

Methods And Results: In 849 elite female athletes, serum T, dehydroepiandrosterone sulphate, androstenedione, SHBG, and gonadotrophins were measured by liquid chromatography-mass spectrometry high resolution or immunoassay. Free T was calculated.

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Modulation of resistance artery tone by the trace amine β-phenylethylamine: dual indirect sympathomimetic and α1-adrenoceptor blocking actions.

J Pharmacol Exp Ther

October 2014

Department of Pharmacology (D.N., P.M.K., S.E.L., R.B., J.S., M.D.L., A.L.H., P.E.L., A.H., F.P.), and Cardiovascular Research Centre (P.E.L., F.P.), University of Alberta, Edmonton, Alberta, Canada

The trace amine β-phenylethylamine (PEA) is normally present in the body at low nanomolar concentrations but can reach micromolar levels after ingestion of drugs that inhibit monoamine oxidase and primary amine oxidase. In vivo, PEA elicits a robust pressor response, but there is no consensus regarding the underlying mechanism, with both vasodilation and constriction reported in isolated blood vessels. Using functional and biochemical approaches, we found that at low micromolar concentrations PEA (1-30 μM) enhanced nerve-evoked vasoconstriction in the perfused rat mesenteric bed but at a higher concentration (100 μM) significantly inhibited these responses.

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AAV vectors expressing LDLR gain-of-function variants demonstrate increased efficacy in mouse models of familial hypercholesterolemia.

Circ Res

August 2014

From the Gene Therapy Program, Department of Pathology and Laboratory Medicine (S.S., F.J., Q.W., J.M.W.), Department of Nursing Research, School of Nursing (A.L.H.), and Departments of Medicine and Genetics and Cardiovascular Institute (D.J.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; and Discovery Sciences, Janssen, Pharmaceutical companies of Johnson and Johnson, Beerse, Belgium (F.J.).

Rationale: Familial hypercholesterolemia is a genetic disorder that arises because of loss-of-function mutations in the low-density lipoprotein receptor (LDLR) and homozygous familial hypercholesterolemia is a candidate for gene therapy using adeno-associated viral vectors. Proprotein convertase subtilisin/kexin type 9 (PCSK9) and inducible degrader of LDLR (IDOL) negatively regulate LDLR protein and could dampen adeno-associated viral vector encoded LDLR expression.

Objective: We sought to create vectors expressing gain-of-function human LDLR variants that are resistant to degradation by human PCSK9 (hPCSK9) and IDOL and thereby enhance hepatic LDLR protein abundance and plasma LDL cholesterol reduction.

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