نتایج جستجو برای: neurologic defects

تعداد نتایج: 161214  

2009
Lisa M. Sanchez

Does the religious affiliation of candidates act as a voting cue? Prior research suggests that voters choose which candidate to support under low-information circumstances where the media chooses to report the “horse-race” of politics and candidates choose to maximize votes by keeping their political positions ambiguous (Downs 1957; Page1976). Therefore, voters use candidate characteristics as ...

Journal: :Seminars in thrombosis and hemostasis 2007
Danny M Cohn Sara Roshani Saskia Middeldorp

In the last decades, the knowledge on the etiology of venous thromboembolism (VTE) has increased tremendously. In approximately half of patients presenting with VTE, one or more thrombophilic defects can be identified. This has led to widespread testing for thrombophilia, despite the fact that, at present, it is unclear whether this should have therapeutic consequences. Here we review the curre...

Journal: :Pediatric dermatology 1989
A Singh H P Bhatia A Mohan N Sharma

Fetal hydantoin syndrome (FHS) is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic drug (AED) phenytoin during pregnancy. Its clinical manifestations include limb abnormalities, ocular defects, central nervous system anomalies, intrauterine growth restriction, and hand and phalangeal anomalies. This case report presents an 8-year-old c...

Journal: :The British journal of ophthalmology 1979
R M Ingram C Walker

215 preschool siblings of children presenting with squint/amblyopia were screened by refraction after cycloplegia. The presence of +2.00 or more D of spherical hypermetropia in both eyes, or +1.00 or more D sphere or cylinder of anisometropia was significantly associated (P=0.0779%) with that child being identified 2+ years later as having either squint or amblyopia or both. Astigmatism of +1.5...

2017
Carlos Soto-Rojas Ireri Suazo-Ortuño José Arturo Montoya Laos Javier Alvarado-Díaz

Identification of early warning signals previous to the occurrence of population decline or extinction is a major challenge for the conservation of animal species. Prevalence of morphological abnormalities in a population can be one of these signals. We registered morphological abnormalities in the salamander Ambystoma ordinarium. We also evaluated the relation between habitat quality and the p...

Journal: :The New England journal of medicine 2014
Mohammed A Sadat Susan Moir Tae-Wook Chun Paolo Lusso Gerardo Kaplan Lynne Wolfe Matthew J Memoli Miao He Hugo Vega Leo J Y Kim Yan Huang Nadia Hussein Elma Nievas Raquel Mitchell Mary Garofalo Aaron Louie Derek C Ireland Claire Grunes Raffaello Cimbro Vyomesh Patel Genevieve Holzapfel Daniel Salahuddin Tyler Bristol David Adams Beatriz E Marciano Madhuri Hegde Yuxing Li Katherine R Calvo Jennifer Stoddard J Shawn Justement Jerome Jacques Debra A Long Priel Danielle Murray Peter Sun Douglas B Kuhns Cornelius F Boerkoel John A Chiorini Giovanni Di Pasquale Daniela Verthelyi Sergio D Rosenzweig

Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented w...

Journal: :Cell 1996
Carrolee Barlow Shinji Hirotsune Richard Paylor Marek Liyanage Michael Eckhaus Francis Collins Yosef Shiloh Jacqueline N Crawley Thomas Ried Danilo Tagle Anthony Wynshaw-Boris

A murine model of ataxia telangiectasia was created by disrupting the Atm locus via gene targeting. Mice homozygous for the disrupted Atm allele displayed growth retardation, neurologic dysfunction, male and female infertility secondary to the absence of mature gametes, defects in T lymphocyte maturation, and extreme sensitivity to gamma-irradiation. The majority of animals developed malignant ...

2013
Ju Young Park In Ho Lee Chang June Song Hee Youn Hwang

Transient reversible lesions (TSL) in the splenium of corpus callosum are often found on MR imaging, with the patients recovering without any neurologic defects after mild clinical courses (1). MR imaging have shown restricted diffusion in the central portion of splenium of corpus callosum (2). Many studies have presented the causing factors of TSL, defining hypothetic pathogenesis. These lesio...

2014
Anca Drăgănescu Anuța Bilaşco Angelica Vişan Codruț Sarafoleanu Claudiu Manea Cornelia Dogaru Diana Slavu Monica Luminos

Background Recurrent bacterial meningitis in children poses a considerable diagnostic challenge due to its multiple etiologies. Making an early diagnosis is crucial in preventing further episodes that could lead to a potentially life threatening condition, neurologic sequelae and psychological trauma due to multiple invasive investigations. Recurrent bacterial meningitis has multiple underlying...

Journal: :Przeglad lekarski 2014
Justyna Bochenek-Cibor Mariusz Krupa Marek Moskała Tomasz Trojanowski

Glioblastoma multiforme is the most common and most lethal pri- mary malignant tumor of the central nervous system. It can develop as a primary tumor or by transformation from its precursor--anaplastic astrocytoma which occurs less frequently but the prognosis is also unfavorable. Authors report a case of a 36-year-old man with "astrocytoma malignum in glioblastoma multiforme vertens" in the le...

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