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Search Results: 1 - 10 of 52 matches for " PARAPLEJIA ESPASTICA HEREDITARIA "
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Paraplejía espástica familiar y artritis reumatoidea
Mercedes Zayas Díaz,Francisco Menéndez Alejo,Ibis Menéndez Alejo
Revista Cubana de Medicina , 1997,
Abstract: Se informan los hallazgos clínicos y de laboratorio en una paciente con paraplejía espástica familiar (PEF) en su forma pura, asociada con una artritis reumatoidea. Los primeros síntomas de la PEF aparecieron durante la adolescencia la cual admite un modo de herencia autosómica dominante. La artritis reumatoidea se caracterizó por afectación poliarticular, factor reumatoideo positivo, velocidad de sedimentación elevada y fenotipo SZ de alfa-1-antitripsina. Se concluye que la asociación entre ambas entidades pudiera obedecer a un defecto genético primario localizado en el brazo largo del cromosoma 14. Clinical and laboratory findings of a patient presenting with familial spastic paraplegia in its pure form and associated with rheumatoid arthritis, are reported. The first symptoms of familial spastic paraplegia occurred during adolescence suggesting a form of autosomal dominant hereditary disease. Rheumatoid arthritis was characterized by polyarticular lesions, positive rheumatoid factor, high sedimentation rate, and the phenotype SZ of alpha-1-antitrypsin. It is concluded that the association between both entities may be due to a primary genetic defect located in the large arm of chromosome 14.
Cisticercosis intramedular
VILLANUEVA, MARCIAL;ALCOCER, JOSé LUIS;MARTíNEZ, JORGE;HORNA, ALEJANDRA;
Archivos de neurociencias (México, D.F.) , 2004,
Abstract: a case of intramedullary cysticercosis en high thoracic level, that produced paraplejia and was treated with mule tomy and extraction with recovery is presented.
La neurotomía del obturador en la contractura en Aducción en las paraplegias espásticas
MARCELO GAMBOA
Revista chilena de pediatría , 1942,
Abstract:
Cirugía y ortopedia en las afecciones nerviosas de la infancia
RICARDO ?J CARITAT
Revista chilena de pediatría , 1942,
Abstract:
Dyschromatosis universalis hereditaria
Naik Chandra,Singh Gurcharan,Rajashekar T,Okade Rajendra
Indian Journal of Dermatology , 2009,
Abstract: Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with a peculiar pigmentary change, consisting of varying sized hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling. We hereby report a case of dyschromatosis universialis hereditaria in a child with no family history of the disorder.
Dyschromatosis Universalis Hereditaria
Rai Ranju,Kaur Inderjeet,Handa Sanjeev,Kumar Bhushan
Indian Journal of Dermatology, Venereology and Leprology , 2000,
Abstract: Dyschromatosis universalis hereditaria is a common disorder in Japan. We report a case in an Indian woman with no family history of the disorder.
Miositis osificante circunscripta en el parapléjico: Presentación de un caso
Gutiérrez Blanco,Mario; Ochoa Undargarain,Lázaro; Hernández Barrios,Dysmart;
Revista Cubana de Ortopedia y Traumatolog?-a , 2001,
Abstract: a 28-year-old paraplegic patient with myositis ossificants circumscripta (moc) in both tights, which is a benign and extraskeletal calcification of the muscles that appears more often around the joints, is presented. the clinical picture and the complementary tests made are explained and medical literature is reviewed.
Acropigmentation of Dohi
Rao K,shetty J
Indian Journal of Dermatology, Venereology and Leprology , 1998,
Abstract: A 9-year-old girl with multiple hyperpigmented and hypopigmented macules over the hands and neck since childhood is reported.
Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria
Binitha M,Thomas Daisy,Asha L
Indian Journal of Dermatology, Venereology and Leprology , 2006,
Abstract: Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney, and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved, and the palms, soles, and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles, and oral mucosa. To our knowledge, this is the first reported case of such an association.
Miocardio no compactado y esferocitosis hereditaria. Un caso clínico
María P. Velazco,Gabriela S. Ranchilio,Analía D. Pérez Casal,Juan M. Paul
Revista Argentina de Cardiología , 2008,
Abstract: El miocardio no compactado es una entidad de origen congénito que pertenece al grupo de las miocardiopatías no clasificables. Su asociación con la esferocitosis hereditaria se ha publicado en un único caso en el mundo.Se presenta el caso de una paciente con diagnóstico de esferocitosis hereditaria admitida en nuestra unidad coronaria con diagnóstico clínico de insuficiencia cardíaca por miocardiopatía dilatada. El hallazgo de una imagen hiperecogénica y móvil en el ecocardiograma motivó la realización de una resonancia magnética cardiovascular que determinó el diagnóstico de miocardio no compactado.Se derivó a la paciente a un centro de referencia para trasplante cardíaco, que no llegó a concretarse.
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