نتایج جستجو برای: infantile patients

تعداد نتایج: 2094065  

Journal: :Brain : a journal of neurology 2009
Eric Marsh Carl Fulp Ernest Gomez Ilya Nasrallah Jeremy Minarcik Jyotsna Sudi Susan L Christian Grazia Mancini Patricia Labosky William Dobyns Amy Brooks-Kayal Jeffrey A Golden

Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx-deficient mice revealed several morphological anomalies, resembling those observed in patients and an interneuron migration defect but perinatal lethality precluded analyses of later phenotypes. Interestingly, many of ...

2014
Agnes Schwieger-Briel Cornelia Moellmann Birgit Mattulat Franziska Schauer Dimitra Kiritsi Enno Schmidt Cassian Sitaru Hagen Ott Johannes S Kern

BACKGROUND Bullous pemphigoid (BP) in infants is a rare but increasingly reported autoimmune blistering skin disease. Autoantibody reactivity is usually poorly characterized. Current guidelines do not address specific aspects of the infantile form of BP. The objectives of this study are to define clinical and diagnostic characteristics of infantile BP and develop a treatment algorithm. METHOD...

Journal: :Postgraduate medical journal 1998
S Atar L Bloch T Rosenfeld

1 Caffey J, Silverman W. Infantile cortical hyperostosis. Preliminary report in a new syndrome. AJR 1945;54:1. 2 Van Buskirk FW, Tampas JP, Peterson OS Jr. Infantile cortical hyperostosis. An enquiry into its familial aspects. AJR 1961;85:613. 3 Finsterbush A, Rang M. Infantile cortical hyperostosis. Followup of 29 cases. Acta Orthop Scand 1975;46:727. 4 Jackson DR, Lyne ED. Infantile cortical ...

Journal: :Journal of pediatric ophthalmology and strabismus 2018
Kun-Hoo Na Yoonae A Cho Seung-Hyun Kim

PURPOSE To investigate the development pattern and related factors of postoperative re-drift in infantile esotropia. METHODS A total of 112 patients with infantile esotropia who underwent surgery before 3 years of age were included. Surgical outcomes were divided into (1) consecutive exotropia: more than 8 prism diopters (PD) of exodeviation; (2) recurrent esotropia: more than 8 PD of esodevi...

2013
R Violano M Ripolone V Lucchini L Villa M Sciacco G Comi P Tonin M Filosto S Previtali T Mongini L Vercelli E Vittonatto A Toscano O Musumeci E Barca C Angelini S Ravaglia C Lamperti M Mora L Morandi M Moggio

Introduction Glycogen storage disease, glycogenosis type II (GSDII), or Pompe disease (OMIM 23230), is an autosomal recessive lysosomal storage disorder that results from a deficiency in the acid alpha glucosidase (GAA) enzyme. The disease is characterized by progressive accumulation of lysosomal glycogen in various tissues, primarily in cardiac and skeletal muscles. The histopathological hallm...

Journal: :Journal of pediatric ophthalmology and strabismus 2017
Leonard B Nelson

Infantile exotropia generally presents in a similar fashion to congenital esotropia. It typically occurs early in life and presents with a large, constant exodeviation. Patients with infantile exotropia are usually operated on early in life in the same manner as patients with congenital esotropia. In this issue, Rajavi et al. demonstrated that 18.3% of patients with infantile exotropia needed a...

Journal: :Archives of ophthalmology 2011
Tara G Missoi Gregg T Lueder Kenneth Gilbertson Susan J Bayliss

OBJECTIVE To evaluate the efficacy and adverse effects of oral propranolol for treatment of periocular infantile hemangioma. METHODS Participants were treated with oral propranolol 3 times daily, with outpatient monitoring of adverse effects. The starting dosage was 0.5 mg/kg/d for 1 week, then 1 mg/kg/d for the following week, then 2 mg/kg/d for the remaining duration of treatment. Serial ex...

2013
Valeria Parisella Iole Vozza Francesca Capasso Valeria Luzzi Gaetano Ierardo Italo Nofroni Antonella Polimeni

Background. Rocabado’s hyoid triangle is the only cephalometric parameter that can assess the effects of orthodontic treatment on tongue posture. Aim. To evaluate the restoration of tongue posture and function by conducting a cephalometric assessment of the hyoid triangle before and after rapid maxillary expansion. Methods. Sixtyfour healthy patients aged 6-11 years with skeletal class II maloc...

2013
Pauline McGee Sophie Miller Claire Black Susannah Hoey

Cutaneous infantile haemangiomas affect approximately 1 in 10 children. They tend to follow a natural course of rapid proliferation during the first year of life and subsequently regress over 5-10 years. Most haemangiomas are non-problematic, but a few become problematic, through ocular, airway or functional impairment, or ulceration. Oral propranolol therapy has been observed to inhibit the pr...

Journal: :Brain & development 2007
S Grosso A Brogna S Bazzotti A Renieri G Morgese P Balestri

Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. Twenty-seven cases have been detected to date. Generalized intractable seizures, as infantile spasms, and generalized tonic-clonic seizures and myoclonic seizures characterize the clinical picture of CDKL5 mutat...

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