RESUMEN
Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607 and PDCD10 genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before.
Asunto(s)
Eliminación de Gen , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Proteína KRIT1/genética , Adolescente , Preescolar , Consanguinidad , Familia , Femenino , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico , Hemangioma Cavernoso del Sistema Nervioso Central/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , TúnezRESUMEN
BACKGROUND: Inhalation of laryngotracheobronchial foreign body in children is a serious accident that may compromise the prognosis of the child and the respiratory function in the long term. AIM: identify the predictive factors of respiratory sequelae of laryngotracheobronchial foreign body inhalation. METHODS: This retrospective study was conducted in the children hospital of Tunis during a period of nine years (2000 - 2008). In all statistical tests, the significance level was set at 0.05. RESULTS: 60 children were included in the study. The average age was 24.9 +/- 3.4 months. 2 / 3 of the children were boys. The foreign body was plant in 80% of cases. The penetration syndrome was reported in 83.7% of cases. The average time of stay of foreign body was 14 days. The chest radiograph was abnormal in 77.4% of cases. Endoscopic extraction was performed in 59 cases and a pneumectomy was conducted in one child. 30 children were followed for an average of 23 months. 18 children had not respiratory sequelae (clinical, radiological and scintigraphic). 10 children had respiratory sequelae (clinical and radiological and/or scintigraphic) at the last follow-up and four patients developed bronchial dilatation. Respiratory sequelae were correlated with the stay period of the foreign body exceeding 84H. Neither age, nor sex, nor the nature of foreign body or its location, nor the presence of radiological opacity at the initial radiograph, were predictive factors of respiratory sequelae. CONCLUSION: The inhalation of foreign body is a serious accident affecting essentially male infants. Clinical, radiological and scintigraphic follow up is mandatory.
Asunto(s)
Cuerpos Extraños/complicaciones , Cuerpos Extraños/terapia , Broncoscopía , Niño , Preescolar , Femenino , Cuerpos Extraños/diagnóstico por imagen , Humanos , Lactante , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares/etiología , Masculino , Radiografía , Estudios RetrospectivosAsunto(s)
Cromosomas Humanos Par 6/genética , Mutación Missense , Riñón Poliquístico Autosómico Recesivo/genética , Receptores de Superficie Celular/genética , Consanguinidad , Várices Esofágicas y Gástricas/genética , Exones/genética , Femenino , Marcadores Genéticos/genética , Pruebas Genéticas , Genotipo , Hematemesis/genética , Hepatomegalia/genética , Humanos , Lactante , Fenotipo , Riñón Poliquístico Autosómico Recesivo/diagnóstico , Esplenomegalia/genética , TúnezRESUMEN
Langerhans cell histiocytosis, previously known as histiocytosis X, is a disease whose clinical presentation varies. Although it is uncommon, Langerhans cell histiocytosis may involve the perianal region. We report the case of a 2-year-old boy who presented with perianal ulcerated vegetative lesions and seborrheic dermatitis of the scalp. Biopsy of the lesions showed Langerhans cell histiocytosis. This patient did not have any other organ involvement, which is rare. The outcome was favourable with vinblastine and corticoids.
Asunto(s)
Enfermedades del Ano/etiología , Histiocitosis de Células de Langerhans/diagnóstico , Antineoplásicos Fitogénicos/uso terapéutico , Enfermedades del Ano/tratamiento farmacológico , Preescolar , Dermatitis Seborreica/tratamiento farmacológico , Dermatitis Seborreica/etiología , Glucocorticoides/uso terapéutico , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Humanos , Masculino , Prednisona/uso terapéutico , Vinblastina/uso terapéuticoAsunto(s)
Enfermedad Celíaca/complicaciones , Hiperplasia Nodular Focal/complicaciones , Síndrome de Sjögren/complicaciones , Enfermedad Celíaca/diagnóstico , Niño , Várices Esofágicas y Gástricas/complicaciones , Femenino , Hiperplasia Nodular Focal/diagnóstico , Hepatomegalia , Humanos , Hipertensión Portal/complicaciones , Síndrome de Sjögren/diagnóstico , EsplenomegaliaRESUMEN
Commanditee par l'Association de Lutte contre les MST-Sida; Section de Tuniset avec le soutien du Fonds Mondial de Lutte contre le Sida; cette etude a pour objectifs d'apprecier le niveau d'observance des PVVIH aux ARVs et d'endegager les principaux determinants potentiellement favorables ou defavorables. Le dispositif methodologique correspond a une demarche en deuxetapes; qualitative puis quantitative. Cet article presente les resultats de l'etude quantitative menee par questionnaire aupres de 66 patients recrutes en intra et extramuros. Des tests de Pearson ont ete utilises pour rechercher une correlation significative entre l'observance et les facteurs d'influence. Les resultats obtenus degagent un taux d'observance de 35et confirment des facteurs d'influence rapportes par les patients lors de la phase qualitative. La taille reduite de l'echantillon considere; l'approche transversale de l'etude et l'utilisation exclusive d'un outil de mesure subjective de l'observance constituent les principales limites de cette etude. Enfin; les resultats revelent la necessite pour les praticiens et les gestionnaires de programmes de convenir d'une definition de l'observance therapeutique et d'un gold standard tunisien de mesure et de comparabilite des taux a tous les niveaux
Asunto(s)
Antirretrovirales , Actitud , Manejo de la Enfermedad , Conocimiento , Cumplimiento de la MedicaciónRESUMEN
A male infant with partial monosomy 10 q and partial trisomy 11q as a result of de novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.