• A Clinically Variant Fibrosis Syndrome In A Turkish Family Maps To The Cfeom1 Locus On Chromosome 12 

      Sener, EC; Lee, BA; Turgut, B; Akarsu, AN; Engle, EC (Amer Medical Assoc, 2000)
      Objectives: To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder. Methods: Participants were ...
    • Assessment of the Predictive Validity of Etiologic Stroke Classification 

      Arsava, E. Murat; Helenius, Johanna; Avery, Ross; Sorgun, Mine H.; Kim, Gyeong-Moon; Pontes-Neto, Octavio M.; Park, Kwang Yeol; Rosand, Jonathan; Vangel, Mark; Ay, Hakan (Amer Medical Assoc, 2017)
      IMPORTANCE The ability of present-day etiologic stroke classification systems to generate subtypes with discrete stroke characteristics is not known. OBJECTIVE To test the hypothesis that etiologic stroke subtyping identifies ...
    • Association Of Serum Soluble Urokinase Receptor Levels With Progression Of Kidney Disease In Children 

      Schaefer, Franz; Trachtman, Howard; Wuhl, Elke; Kirchner, Marietta; Hayek, Salim S.; Anarat, Ali; Duzova, Ali; Mir, Sevgi; Paripovic, Dusan; Yilmaz, Alev; Lugani, Francesca; Arbeiter, Klaus; Litwin, Mieczyslaw; Oh, Jun; Matteucci, Maria Chiara; Gellermann, Jutta; Wygoda, Simone; Jankauskiene, Augustina; Klaus, Gunter; Dusek, Jiri; Testa, Sara; Zurowska, Aleksandra; Afonso, Alberto Caldas; Tracy, Melissa; Wei, Changli; Sever, Sanja; Smoyer, William; Reiser, Jochen (Amer Medical Assoc, 2017)
      IMPORTANCE Conventional methods to diagnose and monitor chronic kidney disease (CKD) in children, such as creatinine level and cystatin C-derived estimated glomerular filtration rate (eGFR) and assessment of proteinuria ...
    • Cardiac and Pulmonary Investigations in Bethlem Myopathy 

      van der Kooi, Anneke J.; de Voogt, Willem G.; Bertini, Enrico; Merlini, Luciano; Talim, F. Beril; Ben Yaou, Rabah; Urtziberea, Andoni; de Visser, Marianne (Amer Medical Assoc, 2006)
      Background: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement. Objective: To investigate cardiac and respiratory involvement in Bethlem myopathy. ...
    • Clinical Efficacy And Safety Of Evolocumab In High-Risk Patients Receiving A Statin Secondary Analysis Of Patients With Low Ldl Cholesterol Levels And In Those Already Receiving A Maximal-Potency Statin In A Randomized Clinical Trial 

      Giugliano, Robert P.; Keech, Anthony; Murphy, Sabina A.; Huber, Kurt; Tokgozoglu, S. Lale; Lewis, Basil S.; Ferreira, Jorge; Pineda, Armando Lira; Somaratne, Ransi; Sever, Peter S.; Pedersen, Terje R.; Sabatine, Marc S. (Amer Medical Assoc, 2017)
      IMPORTANCE Current guidelines for atherosclerotic cardiovascular disease focus on high-intensity statins and targeting or using a threshold low-density lipoprotein cholesterol (LDL-C) level of less than 70 mg/dL for the ...
    • Clinicopathologic And Radiopharmacokinetic Factors Affecting Gamma Probe-Guided Parathyroidectomy 

      Ugur, O; Bozkurt, MF; Hamaloglu, E; Sokmensuer, C; Etikan, I; Ugur, Y; Sayek, I; Gulec, SA (Amer Medical Assoc, 2004)
      Hypothesis: The kinetics of technetium Tc 99m sestamibi (MIBI) in primary hyperparathyroidism are variable and affected by the cellular size of the abnormal glands, the parathyroid hormone levels, and the functional ...
    • Differentiating Reversible Cerebral Vasoconstriction Syndrome With Subarachnoid Hemorrhage From Other Causes Of Subarachnoid Hemorrhage 

      Muehlschlegel, Susanne; Kursun, Oğuzhan; Topçuoğlu, Mehmet A.; Fok, Joshua; Singhal, Aneesh B. (Amer Medical Assoc, 2013)
      IMPORTANCE Reversible cerebral vasoconstriction syndrome (RCVS) is a clinical-angiographic syndrome characterized by recurrent thunderclap headaches and reversible segmental multifocal cerebral artery narrowing. More than ...
    • Disease Course And Treatment Responses In Children With Relapsingmyelin Oligodendrocyte Glycoprotein Antibody-Associated Disease 

      Hacohen, Yael; YiWong, Yu; Lechner, Christian; Jurynczyk, Maciej; Wright, Sukhvir; Konuskan, Bahadir; Kalser, Judith; Poulat, Anne Lise; Maurey, Helene; Ganelin-Cohen, Esther; Wassmer, Evangeline; Hemingway, Chery; Forsyth, Rob; Hennes, Eva Maria; Leite, Isabel; Ciccarelli, Olga; Anlar, Banu; Hintzen, Rogier; Marignier, Romain; Palace, Jacqueline; Baumann, Matthias; Rostasy, Kevin; Neuteboom, Rinze; Deiva, Kumaran; Lim, Ming (Amer Medical Assoc, 2018)
      IMPORTANCE Myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) are consistently identified in a range of demyelinating disorders in adults and children. Current therapeutic strategies are largely center specific, and ...
    • Global And National Burden Of Diseases And Injuries Among Children And Adolescents Between 1990 And 2013 Findings From The Global Burden Of Disease 2013 Study 

      Kyu, Hmwe H.; Pinho, Christine; Wagner, Joseph A.; Brown, Jonathan C.; Bertozzi-Villa, Amelia; Charlson, Fiona J.; Coffeng, Luc Edgar; Dandona, Lalit; Erskine, Holly E.; Ferrari, Alize J.; Fitzmaurice, Christina; Fleming, Thomas D.; Forouzanfar, Mohammad H.; Graetz, Nicholas; Guinovart, Caterina; Haagsma, Juanita; Higashi, Hideki; Kassebaum, Nicholas J.; Larson, Heidi J.; Lim, Stephen S.; Mokdad, Ali H.; Moradi-Lakeh, Maziar; Odell, Shaun V.; Roth, Gregory A.; Serina, Peter T.; Stanaway, Jeffrey D.; Misganaw, Awoke; Whiteford, Harvey A.; Wolock, Timothy M.; Hanson, Sarah Wulf; Abd-Allah, Foad; Abera, Semaw Ferede; Abu-Raddad, Laith J.; AlBuhairan, Fadia S.; Amare, Azmeraw T.; Antonio, Carl Abelardo T.; Artaman, Al; Barker-Collo, Suzanne L.; Barrero, Lope H.; Benjet, Corina; Bensenor, Isabela M.; Bhutta, Zulfiqar A.; Bikbov, Boris; Brazinova, Alexandra; Campos-Nonato, Ismael; Castaneda-Orjuela, Carlos A.; Catala-Lopez, Ferran; Chowdhury, Rajiv; Cooper, Cyrus; Crump, John A.; Dandona, Rakhi; Degenhardt, Louisa; Dellavalle, Robert P.; Dharmaratne, Samath D.; Faraon, Emerito Jose A.; Feigin, Valery L.; Fuerst, Thomas; Geleijnse, Johanna M.; Gessner, Bradford D.; Gibney, Katherine B.; Goto, Atsushi; Gunnell, David; Hankey, Graeme J.; Hay, Roderick J.; Hornberger, John C.; Hosgood, H. Dean; Hu, Guoqing; Jacobsen, Kathryn H.; Jayaraman, Sudha P.; Jeemon, Panniyammakal; Jonas, Jost B.; Karch, Andre; Kim, Daniel; Kim, Sungroul; Kokubo, Yoshihiro; Defo, Barthelemy Kuate; Bicer, Burcu Kucuk; Kumar, G. Anil; Larsson, Anders; Leasher, Janet L.; Leung, Ricky; Li, Yongmei; Lipshultz, Steven E.; Lopez, Alan D.; Lotufo, Paulo A.; Lunevicius, Raimundas; Lyons, Ronan A.; Majdan, Marek; Malekzadeh, Reza; Mashal, Taufiq; Mason-Jones, Amanda J.; Melaku, Yohannes Adama; Memish, Ziad A.; Mendoza, Walter; Miller, Ted R.; Mock, Charles N.; Murray, Joseph; Nolte, Sandra; Oh, In-Hwan; Olusanya, Bolajoko Olubukunola; Ortblad, Katrina F.; Park, Eun-Kee; Paternina Caicedo, Angel J.; Patten, Scott B.; Patton, George C.; Pereira, David M.; Perico, Norberto; Piel, Frederic B.; Polinder, Suzanne; Popova, Svetlana; Pourmalek, Farshad; Quistberg, D. Alex; Remuzzi, Giuseppe; Rodriguez, Alina; Rojas-Rueda, David; Rothenbacher, Dietrich; Rothstein, David H.; Sanabria, Juan; Santos, Itamar S.; Schwebel, David C.; Sepanlou, Sadaf G.; Shaheen, Amira; Shiri, Rahman; Shiue, Ivy; Skirbekk, Vegard; Sliwa, Karen; Sreeramareddy, Chandrashekhar T.; Stein, Dan J.; Steiner, Timothy J.; Stovner, Lars Jacob; Sykes, Bryan L.; Tabb, Karen M.; Terkawi, Abdullah Sulieman; Thomson, Alan J.; Thorne-Lyman, Andrew L.; Towbin, Jeffrey Allen; Ukwaja, Kingsley Nnanna; Vasankari, Tommi; Venketasubramanian, Narayanaswamy; Vlassov, Vasiliy Victorovich; Vollset, Stein Emil; Weiderpass, Elisabete; Weintraub, Robert G.; Werdecker, Andrea; Wilkinson, James D.; Woldeyohannes, Solomon Meseret; Wolfe, Charles D. A.; Yano, Yuichiro; Yip, Paul; Yonemoto, Naohiro; Yoon, Seok-Jun; Younis, Mustafa Z.; Yu, Chuanhua; Zaki, Maysaa El Sayed; Naghavi, Mohsen; Murray, Christopher J. L.; Vos, Theo (Amer Medical Assoc, 2016)
      IMPORTANCE The literature focuses on mortality among children younger than 5 years. Comparable information on nonfatal health outcomes among these children and the fatal and nonfatal burden of diseases and injuries among ...
    • Prediction of Early Recurrence after Acute Ischemic Stroke 

      Arsava, E. Murat; Kim, Gyeong-Moon; Oliveira-Filho, Jamary; Gungor, Levent; Noh, Hyun Jin; Lordelo, Morgana de Jesus; Avery, Ross; Maier, Ilko L.; Ay, Hakan (Amer Medical Assoc, 2016)
      IMPORTANCE Approximately half of recurrent strokes occur within days and weeks of an ischemic stroke. It is imperative to identify patients at imminent risk of recurrent stroke because recurrent events lead to prolonged ...
    • Recrudescence of Deficits After Stroke Clinical and Imaging Phenotype, Triggers, and Risk Factors 

      Topcuoglu, Mehmet A.; Saka, Esen; Silverman, Scott B.; Schwamm, Lee H.; Singhal, Aneesh B. (Amer Medical Assoc, 2017)
      IMPORTANCE Reemergence of previous stroke-related deficits (or poststroke recrudescence [PSR]) is an underrecognized and inadequately characterized phenomenon. OBJECTIVE To investigate the clinical features, triggers, and ...
    • Reversible Cerebral Vasoconstriction Syndromes Analysis of 139 Cases 

      Singhal, Aneesh B.; Hajj-Ali, Rula A.; Topcuoglu, Mehmet A.; Fok, Joshua; Bena, James; Yang, Donsheng; Calabrese, Leonard H. (Amer Medical Assoc, 2011)
      Objectives: To compare the clinical, laboratory, and imaging features of patients with reversible cerebral vasoconstriction syndromes evaluated at 2 academic centers, compare subgroups, and investigate treatment effects. ...
    • Spectrum Of Brain Changes In Patients With Congenital Muscular Dystrophy And Fkrp Gene Mutations 

      Mercuri, E; Topaloglu, H; Brockington, M; Berardinelli, A; Pichiecchio, A; Santorelli, F; Rutherford, M; Talim, B; Ricci, E; Voit, T; Muntoni, F (Amer Medical Assoc, 2006)
      Objectives: To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible geno type-phenotype correlations. Design: ...
    • Superficial Siderosis Of The Central Nervous System Due To Bilateral Jugular Vein Thrombosis 

      Yavagal, Dileep R.; Geng, Deqing; Akar, Serra; Buonanno, Ferdinando; Kesari, Santosh (Amer Medical Assoc, 2010)
      Objective: To describe a novel cause of meningeal siderosis due to intermittent subarachnoid bleeding caused by chronic bilateral jugular vein thrombosis. Design: Case report and review of literature. Patient: A 51-year-old ...
    • Use Of Whole-Exome Sequencing To Determine The Genetic Basis Of Multiple Mitochondrial Respiratory Chain Complex Deficiencies 

      Taylor, Robert W.; Pyle, Angela; Griffin, Helen; Blakely, Emma L.; Duff, Jennifer; He, Langping; Smertenko, Tania; Alston, Charlotte L.; Neeve, Vivienne C.; Best, Andrew; Yarham, John W.; Kirschner, Janbernd; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Baric, Ivo; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Kleinle, Stephanie; Morris, Andrew A. M.; Vassallo, Grace; Gorman, Grainne S.; Ramesh, Venkateswaran; Turnbull, Douglass M.; Santibanez-Koref, Mauro; McFarland, Robert; Horvath, Rita; Chinnery, Patrick F. (Amer Medical Assoc, 2014)
      IMPORTANCE Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the ...