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Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke.

Neurology

October 2022

From the Division of Endocrinology (T.J., H.X., B.J.G, B.D.M., K.A.R., J.A.P., P.F.M.), Diabetes and Nutrition, Department of Neurology (J.W.C., N.S.F., H.L., S.J.K.), Division of Rheumatology and Clinical Immunology (M.C.H.), Department of Medicine, Department of Epidemiology and Public Health (M.C.H.), and Institute for Genome Sciences (T.D.O.C.), University of Maryland School of Medicine; VA Maryland Health Care System (J.W.C.); Centre for Medical Informatics (K.R., C.L.M.S.), Usher Institute, University of Edinburgh, United Kingdom; Institute of Biomedicine (T.M.S., C.J.), Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Sweden; Department of Neurology (L.T., J.P., D.S., T.T.), Helsinki University Hospital and University of Helsinki, Finland; Department of Molecular and Functional Genomics (V.A., J.L., R.Z.), Geisinger Health System, Danville, PA; LabEx DISTALZ-U1167 (P.A.), RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille; Inserm U1167 (P.A.), Lille; Centre Hospitalier Universitaire Lille (P.A.); Institut Pasteur de Lille (P.A.), France; Department of Epidemiology (N.D.A., M.R.I.), University of Alabama at Birmingham; School of Medicine and Public Health (J.A., E.H.), University of Newcastle and Hunter Medical Research Institute, Australia; Stroke Research Group (S.B., H.S.M.), Department of Clinical Neurosciences, British Heart Foundation Cardiovascular Epidemiology Unit (A.B., J.D.), Department of Public Health and Primary Care, British Heart Foundation Centre of Research Excellence (A.B., J.D.), National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics (A.B., J.D.), University of Cambridge (A.B., J.D.), United Kingdom; Department of Neurology (Q.R.B.), University of British Columbia, Vancouver, Canada; Department of Cerebrovascular Diseases (G.B.B.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Health Data Research UK Cambridge (A.B., J.D.); Wellcome Genome Campus (A.B., J.D.), Cambridge, United Kingdom; Stroke Pharmacogenomics and Genetics group (J.C.-M., I.F.-C., N.P.T.-A.), Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain; MRC Population Health Research Unit (Z.C., R.G.W.), Nuffield Department of Population Health, University of Oxford, United Kingdom; Nuffield Department of Clinical Neurosciences (P.M.R.), University of Oxford, United Kingdom; DBCVS Research Institute (M.C., G.P.), Department of Pathology and Molecular Medicine, Population Health Research Institute, McMaster University; Thrombosis & Atherosclerosis Research Institute (TaARI) (M.C., G.P.), Hamilton, Ontario, Canada; Departments of Neurology (J.-M.L.) and Psychiatry (C.C.), Washington University School of Medicine, St. Louis, MO; Department of Medicine and Laboratory for Clinical Biochemistry Research (J.P.D.), Department of Medicine, (M.C.), University of Vermont Larner College of Medicine, Burlington, VT; Department of Human Genetics (J.D.), Wellcome Sanger Institute, Hinxton, United Kingdom; University of Bordeaux (S.D., D.-A.T.), Inserm, Bordeux Population Health Research Center, UMR 1219; Department of Neurology (S.D.), Institute for Neurodegenerative Disease, Bordeaux University Hospital, France; Quantitative Medicine and Systems Biology Division (D.J.D.), Translational Genomics Research Institute, An Affiliate of City of Hope, Phoenix, AZ; Laboratory for Clinical Biochemistry Research (J.P.D.), Department of Clinical Sciences (G.E., J.A.S., M.S., D.R.W.), Malmö and Department of Clinical Sciences (A.I., M.S., A.G.L.), Neurology, Lund, Lund University, Sweden; Department of Neurology (C.E., R.S.), Medical University Graz, Austria; Survey Research Center (J.D.F.), Institute for Social Research, University of Michigan, Ann Arbor; Stroke Pharmacogenomics and Genetics (I.F.-C.), Fundacio Docència i Recerca MutuaTerrassa, Spain; Unit of Molecular Epidemiology (C.G.), Institute of Epidemiology (C.G., A.P.), Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg; Klinik und Poliklinik für Neurologie (A.-K.G.), Kopf- und Neurozentrum, Universitätsklinikum Hamburg-Eppendorf, Germany; Neuroscience Institute (R.P.G., L.R.P.), Saint Francis Medical Center, Trenton, NJ; Department for Biostatistics and Clinical Epidemiology (U.G., ), Charité-University Medical Centre, Berlin, Germany; National Institute for Health and Welfare (A.S.H., V.S.), Helsinki, Finland; Departments of Emergency Medicine and Neurology (L.H.), Washington University School of Medicine, St. Louis, MO; Division of Women's Health (K.R.), Department of Medicine and Department of Neurology (C.D.A.), Brigham and Women's Hospital, Harvard Medical School; Department of Epidemiology (J.H.), Harvard T.H. Chan School of Public Health, Boston, MA; Department of Neurology and Rehabilitation Medicine (A.I.), Skane University Hospital, Lund, Sweden; Division of Endocrinology (R.D.J.), Diabetes and Metabolism, Department of Internal Medicine and the Center for Clinical and Translational Science, The Ohio State University, Columbus; Department of Neurology (M.A.J., A.M.T., F.E.d.L.), Radboud University Medical Center, Donders Medical Center for Neuroscience, Nijmegen, the Netherlands; Department of Genetics, Microbiology and Statistics (R.R.J.), Institute of Biomedicine (IBUB), University of Barcelona; Institut de Recerca Sant Joan de Déu (R.R.J.), Esplugues de Llobregat; Centro de investigación biomédica en red (CIBERER) (R.R.J.); Neurovascular Research Group (NEUVAS) (J.J.-C.), Neurology Department, Institut Hospital del Mar d'Investigacio Medica, Universitat Autonoma de Barcelona, Spain; Department of Pharmacotherapy and Translational Research and Center for Pharmacogenomics (J.A.J., C.W.M.), University of Florida, College of Pharmacy; Division of Cardiovascular Medicine (J.A.J.), College of Medicine, University of Florida, Gainesville; Laboratory of Complex Trait Genomics (Y.K.), Graduate School of Frontier Sciences and Department of Cancer Biology (M.K.), Institute of Medical Science, The University of Tokyo, Japan; Department of Epidemiology (S.L.R.K.), School of Public Health, University of Michigan, Ann Arbor; Department of Cancer Biology (M.K.), RIKEN Center for Integrative Medical Sciences (M.K., C.T.), Yokohama, Japan; Department of Medicine (L.L.), University of Colorado Denver, Anschutz Medical Campus, Aurora, CO; Department of Neurosciences, Experimental Neurology (R.L.), VIB Center, For Brain & Disease Research, KU Leuven-University of Leuven; Department of Neurology (R.L.), University Hospitals Leuven, Belgium; John Hunter Hospital (C.R.L.), Hunter Medical Research Institute and University of Newcastle, Newcastle, Australia and Priority Research Centre for Stroke & Brain Injury, University of Newcastle, NSW, Australia; Peking University Health Science Center (L.L.), Department of Epidemiology and Biostatistics, Peking University, Beijing, China; Department of Neurology (S.L., J.F.M., O.A.R.), Mayo Clinic, Jacksonville, FL; Faculty of Health (J.M.), School of Nursing and Midwifery, University of Technology Sydney, NSW, Australia; Department of Neurology (T.M.), Helsinki University Central Hospital, Helsinki, Finland; Institute of Genetic Epidemiology (M.M.-N.), Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University Mainz, Germany; Department of Medicine I, Ludwig-Maximilians University Munich, Germany; Department of Medicine (C.C.H.) University of Maryland School of Medicine, Baltimore, MD; Health Research Board Clinical Research Facility (M.O.D.), Geata an Eolais, National University of Ireland, Galway; Department of Neurology (J.P., A.S.), Jagiellonian University, Krakow, Poland; Institute for Medical Information Sciences (A.P.), Biometry and Epidemiology, Ludwig-Maximilians-University, Munich, Germany; Department of Epidemiology (D.R.), Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD; Psychiatric Genetics Unit (M.R., C.S.-M.), Group of Psychiatry, Mental Health and Addiction, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona; Department of Psychiatry (C.S.-M.), Hospital Universitari Vall d'Hebron, Barcelona; Biomedical Network Research Centre on Mental Health (CIBERSAM) (M.R.), Instituto de Salud Carlos III, Madrid; Department of Genetics (M.R.), Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona, Spain; McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital; Center for Genomic Medicine (J.R.), MGH; Department of Neurology (J.R.), MGH, Boston; Program in Medical and Population Genetics (J.R.), Broad Institute, Cambridge, MA; Department of Neurology and Evelin F. McKnight Brain Institute (T.R., R.L.S.), Miller School of Medicine, University of Miami, FL; Institute of Cardiovascular Research (P.S.), Royal Holloway University of London, and Ashford and St. Peters Hospital (P.S.), Surrey, United Kingdom; Group Health Research Institute (N.L.S.), Group Health Cooperative; Department of Epidemiology (N.L.S.), University of Washington; Seattle Epidemiologic Research and Information Center (N.L.S.), VA Office of Research and Development, Seattle, WA; Department of Epidemiology and Population Health (S.W.-S.), Albert Einstein College of Medicine, New York; BHF Data Science Centre (C.L.S.), Health Data Research UK, London, United Kingdom; Department of Neurology (T.T.) and Department of Clinical Genetics and Genomics (C.J.), Region Vastra Gotaland, Sahlgrenska University Hospital; Department of Clinical Neuroscience (T.T.), Institute of Neurosciences and Physiology, Sahlgrenska Academy at University of Gothenburg, Sweden; Stroke Theme (V.T.), Florey Institute of Neuroscience and Mental Health, University of Melbourne; Department of Neurology (V.T.), Austin Health, Heidelberg, Victoria, Australia; Department of Neurology (J.H.V.), University Medical Center Utrecht Brain Center, Utrecht University, the Netherlands; Department of Neurology and Rehabilitation Medicine (D.W.), University of Cincinnati College of Medicine, OH; Departments of Neurology and Public Health Sciences (B.B.W.), University of Virginia School of Medicine, Charlottesville; Section of Neurology (A.G.L.), Skåne University Hospital, Lund, Sweden; Program in Medical and Population Genetics (C.D.A.), Broad Institute of MIT and Harvard, Cambridge, MA; Institute for Stroke and Dementia Research (ISD) (R.M., M.D.), University Hospital, LMU Munich; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Center for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; Geriatric Research and Education Clinical Center (B.D.M., S.J.K.), Veterans Administration Medical Center, Baltimore, MD.

Article Synopsis
  • The study investigates genetic variants linked to early-onset ischemic stroke (EOS) in individuals aged 18-59, contrasting with previous research focused on late-onset stroke (LOS).
  • Researchers conducted a meta-analysis involving 16,730 EOS cases and 599,237 controls to identify significant genetic associations and compared results between EOS and LOS.
  • Findings include two genetic variants associated with blood subgroups that show a stronger connection to EOS than LOS, indicating that genetic factors promoting blood clotting are particularly influential in early-onset cases.
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The patient is a 5-year-old girl who underwent a previous Kawashima procedure with a left-sided bidirectional cavopulmonary anastomosis as a stage I palliation for her functional single ventricle. Her cardiac defect consisted of an unbalanced, right-dominant complete atrioventricular septal defect and a double outlet right ventricle. She also had heterotaxy syndrome with left isomerism, polysplenia, and an interrupted inferior vena cava with azygous continuation to a right-sided superior vena cava.

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Purpose: Wide-necked aneurysms in the circle of Willis (CoW) are prone to recur due to reciprocal bidirectional flow. We present a novel concept of coil embolization to prevent recurrence that uses physiologic flow diversion at the CoW.

Materials And Methods: We enrolled 14 patients (15 aneurysms) who underwent aneurysm coiling for wide-necked aneurysms with asymmetric bidirectional inflow into the aneurysm.

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Strenuous exercise is synonymous with disturbing gastrointestinal integrity and function, subsequently prompting systemic immune responses and exercise-associated gastrointestinal symptoms, a condition established as "exercise-induced gastrointestinal syndrome." When exercise stress and aligned exacerbation factors (i.e.

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Background: We sought to better understand breast-specific sensuality (BSS) in sexually inactive breast cancer survivors.

Methods: We conducted an anonymous cross-sectional survey of breast cancer survivors during surveillance appointments from 2014 to 2016. Sexual inactivity was defined as no sexual activity within 4 weeks prior.

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Pregnancy and neonatal outcomes of COVID-19: The PAN-COVID study.

Eur J Obstet Gynecol Reprod Biol

September 2022

Centre for Fetal Care, Imperial College Healthcare NHS Trust, Institute of Reproductive and Developmental Biology, Imperial College London, London W12 0HS, UK.

Objective: To assess perinatal outcomes for pregnancies affected by suspected or confirmed SARS-CoV-2 infection.

Methods: Prospective, web-based registry. Pregnant women were invited to participate if they had suspected or confirmed SARS-CoV-2 infection between 1st January 2020 and 31st March 2021 to assess the impact of infection on maternal and perinatal outcomes including miscarriage, stillbirth, fetal growth restriction, pre-term birth and transmission to the infant.

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Objective: This study aimed to assess the outcomes of outpatient day-care management of unruptured intracranial aneurysm (UIA), and to present the risks associated with different management strategies by comparing the outcomes and adverse events between outpatient day-care management and management with longer admission periods.

Materials And Methods: This retrospective cohort study used prospectively registered data and was approved by a local institutional review board. We enrolled 956 UIAs from 811 consecutive patients (mean age ± standard deviation, 57 ± 10.

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Lunotriquetral Ligament Repair Using Augmented Internal Brace.

Arch Bone Jt Surg

May 2022

Rowley Bristow Orthopaedic Unit, Ashford and St. Peter's Hospitals NHS Foundation Trust, St. Peter's Hospital, Guildford St, Lyne, Chertsey.

Lunotriquetral (LT) ligament tear, usually in combination with an adjacent carpal ligament injury, can result in complete LT dissociation and VISI (Volarflexed Intercalated Segment Instability). Operative techniques for the management of instability are highly variable with many described in literature, although there is little evidence to demonstrate the superiority of one definitive therapeutic technique of repair and reconstruction. In this paper, we discuss our proposed technique for performing LT ligament repair using an augmented internal brace, which addresses triquetral extension and lunate flexion.

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Purpose: Reversible aggravation of myelopathy symptoms was observed after the intake of taurine-rich foods in patients with venous congestive myelopathy (VCM) caused by a spinal arteriovenous shunt (SAVS), and the taurine-challenge test was applied to demonstrate an association between taurine and VCM.

Materials And Methods: The current study reviewed any aggravation history of myelopathy symptoms, including walking difficulty, after consuming taurine-rich foods among 133 consecutive patients with a SAVS from a prospective institutional database from June 2013 to February 2021. The type of taurine-rich foods, demographic data, arteriovenous shunt level, and follow-up periods were obtained.

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Purpose: Spontaneous cervicocephalic dissection (SCAD) is an important cause of stroke and shows various lesion locations and clinical features. The purpose of this study was to analyze the location of SCAD and its clinical and radiologic patterns in Korean patients.

Materials And Methods: Patients with SCAD who were evaluated between 2013 and 2018 at a tertiary center in Korea were reviewed.

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Aim: The severity of cardiac impairment in acute heart failure (AHF) predicts outcome, but challenges remain to identify prognostically important non-invasive parameters of cardiac function. Left ventricular ejection fraction (LVEF) is relevant, but only in those with reduced LV systolic function. We aimed to assess the standard and advanced parameters of left and right ventricular (RV) function from echocardiography in predicting long-term outcomes in AHF.

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Background: Healthy gut microbiota is important for prognosis in cow's milk allergy (CMA). The application of synbiotics (specific pre- and probiotics) in extensively hydrolyzed formulae (eHFs) is a relatively new concept.

Aims: To evaluate a synbiotic-containing, whey-based eHF (SeHF) with galacto-oligosaccharides, fructo-oligosaccharides, and bifidobacterium breve M-16V in infants with CMA.

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Aims: To investigate the abnormalities of the coronary venous system in candidates for cardiac resynchronization therapy (CRT) and describe methods for circumventing the resulting difficulties.

Methods: From four implanting institutes, data of all CRT implants between October 2008 and October 2020 were screened for abnormal cardiac venous anatomy, defined as an anatomical variation not conforming to the accepted 'normal' anatomy. Patient demographics, procedural detail, and subsequent left ventricle (LV) lead pacing indices were collected.

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Background: Charcot neuroarthropathy is a destructive disease characterized by progressive bony fragmentation as a result of the isolated or accumulative trauma in patients with decreased sensation that manifests as dislocation, periarticular fractures, and instability. In this study, we present the results of salvage procedure of the ankle Charcot neuroarthropathy using aggressive debridement and Ilizarov frame fusion with early weight bearing.

Methods: Twenty-three patients with severely infected ulcerated and unstable Charcot neuroarthropathy of the ankle were treated between 2013 and 2018.

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Spontaneous chronic total occlusion recanalization is rare. It has scarcely been described previously and with minimal visual detail. Optical coherence tomography permitted comprehensive visualization of the microchannels in this case, seldom seen previously.

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Integrating Palliative Care Into Self-management of Breast Cancer: A Pilot Randomized Controlled Trial.

Cancer Nurs

August 2023

Author Affiliations: New York University Rory Meyers College of Nursing (Dr Schulman-Green); Yale School of Nursing (Ms Linsky and Dr Jeon), Yale School of Medicine (Drs Holland and Chagpar), and Smilow Cancer Hospital (Drs Kapo and Chagpar and Ms Blatt), West Haven, Connecticut; and St Peters Hospital, Albany, New York (Dr Adams).

Background: Breast cancer patients may not be well-informed about palliative care, hindering its integration into cancer self-management.

Objective: The aim of this study was to test Managing Cancer Care: A Personal Guide (MCC-PT), an intervention to improve palliative care literacy and cancer self-management.

Methods: This was a single-blind pilot randomized controlled trial to evaluate the feasibility/acceptability and intervention effects of MCC-PT on palliative care literacy, self-management behaviors/emotions, and moderation by demographic/clinical characteristics.

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Background: The aim of our prospective multicentre study is to evaluate the five-year follow-up outcomes of primary reverse shoulder replacement utilizing two different designs of glenoid baseplates.

Methods: There were 159 reverse shoulder replacements (91 cemented and 68 uncemented stems, 67 Trabecular Metal baseplates and 92 Anatomical Shoulder baseplates in 152 patients (99 women) with a mean age of 74.5 (58-90) years.

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Modified Barbero-Marcial repair for type I truncus arteriosus in a 2.7-kg neonate.

Multimed Man Cardiothorac Surg

January 2022

University of Minnesota, Masonic Children's Hospital 2450 Riverside Ave S, East Building, MB 539, Minneapolis, MN 55454.

Truncus arteriosus is a rare cardiac anomaly, accounting for less than 4% of all congenital lesions. It is the result of failed aorticopulmonary septation during the fifth week of gestation leading to a single arterial trunk overriding the interventricular septum, a single semilunar valve, and typically a large conotruncal ventricular septal defect. Several classifications exist, and it typically requires surgical repair in the neonatal period.

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The LuBAIR™ Paradigm is a novel approach to ascribe meaning to behavioral expressions in advanced neurocognitive disorders when the reliability of a clinical assessment is limited. The meaning ascribed to each behavioral category was used to identify those which are likely to respond to the use of atypical antipsychotics, in their management. De-prescribing was attempted on patients who qualified to enter this retrospective study.

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