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Search Results: 1 - 10 of 20 matches for " werdnig-hoffman "
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ENFERMEDAD DE WERDNIG-HOFFMAN: A PROPOSITO DE UN CASO CON ESTADIA PROLONGADA
Camacho Plasencia,Carlos Alberto; Carrión Mendoza,Reynaldo; Llana Nú?ez,Reynaldo; Roque Pi?ón,Aida Piedad; Oleaga Vargas,Saily;
Revista Habanera de Ciencias M??dicas , 2009,
Abstract: the number of children that need long term mechanical ventilation is increasing worldwide. a female patient was reported with spinal muscular atrophy type 1 (werdnig-hoffman disease) and a stay at the intensive care unit nearly to five years because she required chronic ventilatory support. a review of the illness was performed and the management strategies were analysed that have permitted an unusually prolonged survival with excellent physical and mental conditions.
Estudio clínico, genético y molecular en un paciente con atrofia muscular espinal
Menéndez Alejo,Ibis; Hernández Chico,Concepción; Cepero Noriega,Fara;
Revista Cubana de Pediatr?-a , 1998,
Abstract: the infantile spinal muscular atrophies (sma) are hereditary neuromuscular diseases characterized by degenerated alfa-motoneurons of the anterior spinal marrow horn. werdning-hoffman disease, type 1 sma, is the most serious affection being transmitted as an autosomal recessive character, so those affected may die from respiratory failures in the first year of life. this paper presents a cuban family with two kids who suffer from type-1 sma; the molecular analysis carried out in one of them identified two parental chromosomes responsible for the disease. also, a deletion of both copies of smn gene (exon 8) and naip gene (exon 5) were discovered in this patient. these findings showed the usefulness of this kind of studies with a view to making a prenatal diagnosis of werdning-hoffman disease.
ENFERMEDAD DE WERDNIG-HOFFMAN: A PROPOSITO DE UN CASO CON ESTADIA PROLONGADA Werdnig-Hoffman disease. a long stay in a pediatric Intensive Care Unit
Carlos Alberto Camacho Plasencia,Reynaldo Carrión Mendoza,Reynaldo Llana Nú?ez,Aida Piedad Roque Pi?ón
Revista Habanera de Ciencias M??dicas , 2009,
Abstract: El número de ni os que necesita asistencia ventilatoria prolongada ha aumentado en todo el mundo en los últimos a os. Se reporta una paciente con atrofia muscular espinal tipo 1 (Enfermedad de Werdnig-Hoffman) con una permanencia en la Unidad de Cuidados Intensivos Pediátricos de casi 5 a os por necesidad de soporte ventilatorio crónico. Se realiza una breve revisión de la enfermedad y se analizan las características de su atención integral que han permitido una sobrevida inusualmente prolongada con excelentes condiciones físicas y mentales. The number of children that need long term mechanical ventilation is increasing worldwide. A female patient was reported with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) and a stay at the Intensive Care Unit nearly to five years because she required chronic ventilatory support. A review of the illness was performed and the management strategies were analysed that have permitted an unusually prolonged survival with excellent physical and mental conditions.
Estudio clínico, genético y molecular en un paciente con atrofia muscular espinal
Ibis Menéndez Alejo,Concepción Hernández Chico,Fara Cepero Noriega
Revista Cubana de Pediatr?-a , 1998,
Abstract: Las atrofias musculares espinales (AME) infantiles son enfermedades neuromusculares hereditarias caracterizadas por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal. La enfermedad de Werdnig-Hoffmann, AME tipo I, es la forma más grave, se transmite como un carácter autosómico recesivo y los afectados suelen fallecer durante el primer a o de vida por fallo respiratorio. En este trabajo se presenta una familia cubana con 2 hijos con AME tipo I, en la cual el estudio molecular en uno de ellos permitió identificar los 2 cromosomas parentales asociados con ésta. Se encontró además en el paciente una deleción de ambas copias del gen SMN (exón 8) y del gen NAIP (exón 5). Los hallazgos ilustran la utilidad de estos estudios, con vistas a posibilitar el diagnóstico prenatal de la enfermedad. The infantile spinal muscular atrophies (SMA) are hereditary neuromuscular diseases characterized by degenerated Alfa-motoneurons of the anterior spinal marrow horn. Werdning-Hoffman disease, Type 1 SMA, is the most serious affection being transmitted as an autosomal recessive character, so those affected may die from respiratory failures in the first year of life. This paper presents a Cuban family with two kids who suffer from Type-1 SMA; the molecular analysis carried out in one of them identified two parental chromosomes responsible for the disease. Also, a deletion of both copies of SMN gene (exon 8) and NAIP gene (exon 5) were discovered in this patient. These findings showed the usefulness of this kind of studies with a view to making a prenatal diagnosis of Werdning-Hoffman disease.
Atrofia muscular espinal infantil: Introducción del diagnóstico molecular en Cuba Infantile spinal muscular atrophy: Introduction of molecular diagnosis in Cuba
Ana María Acevedo López,Tatiana Zaldívar Vaillant,Felipe Moreno,Concepción Hernández-Chico
Revista Cubana de Obstetricia y Ginecolog?-a , 1999,
Abstract: La atrofia muscular espinal (AME) es un trastorno neurodegenerativo hereditario causado por la afectación selectiva de las motoneuronas del asta anterior de la médula espinal. Las atrofias musculares espinales son un importante grupo de enfermedades paralizantes que pueden afectar a los individuos de todas las edades y sexo. Forman un amplio espectro clínico genético que las distingue en 3 grupos de acuerdo con la edad de comienzo de los signos clínicos y la severidad de la enfermedad. Las 3 formas de AME autosómica recesiva fueron mapeadas en la región 5q 11.2-13.3, región que contiene múltiples copias de genes marcadores. Muchos fueron los estudios genéticos moleculares realizados para aislar el gen o genes que provocan la enfermedad, entre ellos, el análisis de ligamiento con marcadores polimórficos de la región, han permitido el estudio en familias afectadas. Precisamente este trabajo tuvo el objetivo de introducir en Cuba el diagnóstico molecular de la AME, para lo cual se evaluaron los marcadores del locus de la enfermedad: L407, M4, D5S125, D5S112, D5S127, D5S610, D5S1416, D5S107, D5S1356 y D5S557. Para el análisis de segregación alética se aplica la técnica molecular de reacción en cadena de la polimerasa (PCR), que permite identificar los cromosomas afectados a través de la obtención del genotipo en las familias diagnosticadas con los tipos clásicos I, II, III. En una familia donde el primero de 3 hijos es enfermo con el tipo III, se determinó que su hermanita de 4 a os es portadora y su hermanito de 5 a os es sano. Se realizó consejo genético a la familia. The spinal muscular atrophy (SMA) is a hereditary neurodegenerative disorder caused by selective affection of motor neurones in the anterior of the spinal cord. The spinal muscular atrophics are an important group of paralyzing diseases that may affect any individual regardless of age or sex and they make up a wide clinical genetic range classified into 3 groups interms of age of onset of clinical signs and disease severity. The 3 forms of recessive autosomal SMA were mapped in 5q 11.2-13.3 region which contains several copies of marker genes. Many molecular genetic studies such as linkage analysis with polymorphic markers of the region carried out to isolate that gene or those genes causing the disease have allowed to study the affected families. Hence this paper is aimed at introducing the SMA molecular diagnosis in Cuba for which disease locus markers are evaluated i.e, L407;M4, D5S125, D5S127, D5S610, D5S1416, D5S107, D5S1356 and D5S57. The molecular polymerase chain reaction technique i
Evaluation of Different Parasitological Techniques for Diagnosing Intestinal Parasites in Dogs  [PDF]
Breno Barros de Santana, Tallys Leandro Barbosa da Silva, Rafael Antonio Nascimento Ramos, Leucio Camara Alves, Gílcia Aparecida de Carvalho
Open Journal of Veterinary Medicine (OJVM) , 2015, DOI: 10.4236/ojvm.2015.52003
Abstract: Intestinal nematodes are among the most common parasites of dogs, being Toxocara spp. and Ancylostoma spp. threats to public health due to their zoonotic potential. In this study, three parasitological diagnostic techniques for detecting the eggs/oocysts of canine intestinal parasites were evaluated. Fecal samples (n = 285) were collected from the environment (i.e. public streets, squares and homes) in Garanhuns, Pernambuco, Brazil. Samples were analyzed using the Willis-Mollay simple flotation technique, spontaneous sedimentation (Hoffman, Pons and Janer) and modified centrifugal flotation. Among the samples analyzed, 56.49% (161/285) showed eggs and/or oocysts of intestinal parasites. In particular, 44.21% (126/285) were detected by the Willis technique, 45.14% (121/268) by centrifugal flotation and 31.57% (90/285) by the Hoffmann technique. The kappa index indicated good concordance between the centrifugal flotation and Willis techniques (κ = 0.625), whereas fair concordance was observed between Hoffmann and Willis (κ = 0.480), and between Hoffman and centrifugal flotation (κ = 0.433). In conclusion, the centrifugal flotation technique showed high sensitivity towards detecting Ancylostoma spp. and Toxocara spp. (the most common parasites in this study) and could be used in association with the Willis technique to obtain safe diagnoses within routine laboratory analysis.
A Case Report of Hoffmann’s Syndrome
Fevzi Oztekin,Nese Oztekin,Ozge Y?lmaz,Ece Unlü
Journal of Neurological Sciences , 2005,
Abstract: Hypothyroid myopathy has been observed accompanying varying degrees of thyroid dysfunction. Hoffman’s Syndrome is a rare form of hypothyroid myopathy characterized with muscle hypertrophy, stiffness and weakness. Here, we present a 48-year-old man diagnosed as Hoffman’s Syndrome documented by enzyme assays, clinical manifestations and electromyography findings.
Acquired ichthyosis with hoffman's syndrome
Sathyanarayana B,Leelavathi B
Indian Journal of Dermatology, Venereology and Leprology , 2003,
Abstract: A middle aged man presented with features of acquired ichthyosis with Hoffman's syndrome. Laboratory tests support hypothyodism. Myoedema and hypertrophy of muscles were present. Patient was previously treated for Pellagra.
Acquired ichthyosis with hoffman's syndrome
Sathyanarayana B,Leelavathi B
Indian Journal of Dermatology, Venereology and Leprology , 2003,
Abstract: A middle aged man presented with features of acquired ichthyosis with Hoffman's syndrome. Laboratory tests support hypothyodism. Myoedema and hypertrophy of muscles were present. Patient was previously treated for Pellagra.
The Transformation of Gender Identity for Women and Men in a University Classroom  [PDF]
Jerome Rabow, Gabrielle Serano, Sara Yazdanfar
Sociology Mind (SM) , 2017, DOI: 10.4236/sm.2017.72006
Abstract: This research paper examines the way in which a university classroom focuses upon patriarchy and sexism and the responses to these issues. The 110 students in this upper division class were encouraged to examine their beliefs and values in an environment where they could be challenged by readings, other students’ reactions and web posts. These web posts were anonymous so that students could feel safe and were classified in a six-stage identity scheme developed by Hoffman (1985). Their six-stage categories were modified by the authors of this paper and were used to describe the transformation of students’ identities from sexist to anti-sexist.
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