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Gamme d'année
1.
Gac. méd. espirit ; 23(2): 99-106, 2021. tab, graf
Article Dans Espagnol | LILACS | ID: biblio-1339938

Résumé

RESUMEN Fundamento: El linfedema congénito primario es una condición rara con un componente genético importante que se caracteriza por edema crónico de la zona afectada. Objetivo: Presentar un linfedema congénito primario bilateral y discutir su origen. Presentación de caso: Se presentó un caso de linfedema congénito primario bilateral en un niño de 2 años de edad, sin antecedentes patológicos familiares de la enfermedad. Se discutieron sus posibles causas genéticas ya que existen varias mutaciones que explican su origen. Aunque no se pudieron realizar estudios genéticos para conocer la etiología exacta, existen evidencias clínicas de que no se trata de una enfermedad de Milroy, a menos que se presente como una mutación de novo. Se le realizó al paciente un seguimiento desde su diagnóstico hasta la actualidad. Conclusiones: Existen múltiples mutaciones genéticas que explican el origen de un linfedema congénito primario, por lo que no necesariamente debe tratarse de enfermedad de Milroy cuando este se presente. Se destacó como elemento importante que en este caso no se evidenciaron antecedentes familiares. Se empleó el tratamiento conservador como conducta fundamental a seguir, se evidenció en el paciente una notable mejoría clínica.


ABSTRACT Background: Primary congenital lymphedema is a rare condition with an important genetic component characterized by chronic edema of the affected area. Objective: To present a bilateral primary congenital lymphedema and discuss its origin. Case report: A case of bilateral primary congenital lymphedema was presented in a 2-year-old boy with no any family background of the disease. Its possible genetic causes were discussed since there are several mutations that explain its origin. Although genetic studies could not be performed to know the exact etiology, there is clinical evidence that it is not a Milroy's disease, unless it presents as a de novo mutation. The patient was followed up from diagnosis to the present. Conclusions: There are multiple genetic mutations that explain the origin of a primary congenital lymphedema, so it should not necessarily be Milroy's disease when present. A highlighted and important element was that in this case no any family background was evidenced. Conservative treatment was used as the essential conduct to follow up, a remarkable clinical progress was evidenced in the patient.


Sujets)
Lymphoedème/génétique
2.
Pesqui. vet. bras ; 29(9): 713-718, Sept. 2009. ilus
Article Dans Portugais | LILACS | ID: lil-532841

Résumé

Casos de linfedema congênito foram observados acometendo 12 terneiros cruza Red Angus na região Central do Rio Grande do Sul. Os terneiros afetados apresentavam graus variáveis de edema subcutâneo ao nascimento, envolvendo principalmente os membros pélvicos, mas também outras regiões do corpo. A injeção de solução a 5 por cento de azul de metileno no espaço interdigital dos membros pélvicos de três terneiros afetados e um controle, indicaram uma interrupção no fluxo da linfa, sugerindo uma falha dos linfáticos periféricos distais em contactar os troncos centrais. Na necropsia de três terneiros afetados, edema subcutâneo foi observado de modo variável nos membros pélvicos, prepúcio e abdômen ventral. Não foi observado edema nas cavidades orgânicas. Em dois casos, observou-se hipoplasia dos linfonodos poplíteos associadas à dilatação dos vasos linfáticos. Testes de DNA demonstraram que todos os terneiros afetados nasceram de vacas inseminadas pelo mesmo touro, sugerindo uma base genética para a doença. Levando em consideração que uma pequena porcentagem de terneiros nasceram de vacas inseminadas pelo touro suspeito, é provável que um modo autossômico recessivo esteja envolvido na hereditariedade da doença.


Cases of congenital lymphedema were observed affecting 12 cross Red Angus calves from the central region of the state of Rio Grande do Sul, Brazil. Affected calves presented variable degrees of subcutaneous edema at birth, involving mainly the hind limbs but also other body regions. The injection of methylene blue dye in 5 percent solution into the interdigital space of the hind limbs of three affected calves and one normal control indicated an interruption of the lymph flow in the affected calves; this suggests a failure of the distal peripheral lymphatics to connect with the central trunks. At necropsy of three affected calves subcutaneous edema was variably observed in the hind limbs, prepuce and ventral abdomen. Edema of body cavities was not observed. In two cases there was hipoplasia of the popliteal lymph nodes associated to dilatation of lymphatic vessels. DNA tests demonstrated that all affected calves were born from cows sired by the same bull suggesting an inherited basis for the disease. Considering the small percentage of affected calves born from cows sired by the suspect bull it is probable that an autosomal recessive mode of inheritance is involved.


Sujets)
Animaux , Bovins , Maladies des bovins/congénital , Maladies des bovins/épidémiologie , Maladies des bovins/anatomopathologie , Lymphoedème/congénital , Lymphoedème/génétique , Maladies génétiques congénitales/médecine vétérinaire , Lymphoedème/médecine vétérinaire
3.
Arch. domin. pediatr ; 22(2): 139-142, mayo-ago. 1986. ilus
Article Dans Espagnol | LILACS | ID: lil-44027

Résumé

Se reporta el caso de un lactante afectado de linfodema congénita hereditario, bilateral en el que no se visualizó en la linfangiografía los linfáticos ilioinguinales bilateralmente. Se analiza el árbol genealógico, observandose que otros individuos tambíen están afectados de igual condición pero con tiempo de aparición e intensidad variable por lo que se sugiere que la variabilidad en la expresión del síndrome es lo que podría determinar la diferencia entre el linfodema de Nonne Milroy y el linfodeme de Meige. Consideramos como responsable de ambas condiciones a un gen único basándonos en la clara transmisión dominante en esta familia


Sujets)
Enfant d'âge préscolaire , Humains , Mâle , Lymphoedème/génétique , Syndrome
4.
Southeast Asian J Trop Med Public Health ; 1984 Sep; 15(3): 281-6
Article Dans Anglais | IMSEAR | ID: sea-31883

Résumé

Similar HLA association was found in patients with elephantiasis in Sri Lankans and Southern Indians. HLA-B15 was observed in 13/44 (30%) Sri Lankan patients with elephantiasis compared to 1/27 (4%) Sri Lankan controls (p = .0058; RR = 10.9) and in 5/8 (28%) Southern Indian elephantiasis compared to 10/101 (10%) Southern Indian controls (p = 0.04; RR = 3.5). In combining the data, the significance of the difference of the frequency of B15 between patients with elephantiasis and controls was even more marked (p = 0.00045; corrected p = 0.012; RR = 4.4).


Sujets)
Asiatiques , Prédisposition aux maladies , Éléphantiasis/génétique , Femelle , Filarioses/génétique , Antigènes HLA/génétique , Humains , Lymphoedème/génétique , Malaisie , Mâle , Singapour , Sri Lanka
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