RESUMEN
Venous thrombosis in the context of inflammatory bowel diseases has become a traditional complication, unlike arterial thrombosis, which remains very rare. We present the case of a patient with acute limb ischemia and aortic mural thrombosis as a complication of ulcerative colitis.
Asunto(s)
Enfermedades de la Aorta , Colitis Ulcerosa , Cardiopatías , Enfermedades Inflamatorias del Intestino , Tromboembolia , Trombosis , Enfermedades de la Aorta/complicaciones , Enfermedades de la Aorta/diagnóstico por imagen , Colitis Ulcerosa/complicaciones , Humanos , Enfermedades Inflamatorias del Intestino/complicaciones , Isquemia/complicaciones , Isquemia/etiología , Trombosis/complicaciones , Trombosis/etiologíaRESUMEN
BACKGROUND: Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure and clinical appearance of enamel. Amelogenesis imperfecta occurred as an isolated trait or as part of a genetic syndrome. Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome associating amelogenesis imperfecta and gingival fibromatosis. CASE PRESENTATION: We report, the first description of a Moroccan patient with amelogenesis imperfecta and gingival fibromatosis, in whom we performed Sanger sequencing of the entire coding sequence of FAM20A and identified a homozygous mutation in the FAM20A gene (c.34_35delCT), already reported in a family with this syndrome. CONCLUSION: Our finding confirms that the mutations of FAM20A gene are causative for amelogenesis imperfecta and gingival fibromatosis and underlines the recurrent character of the c.34_35delCT in two different ethnic groups.
Asunto(s)
Amelogénesis Imperfecta/genética , Proteínas del Esmalte Dental/genética , Fibromatosis Gingival/genética , Eliminación de Secuencia/genética , Alanina/genética , Secuencia de Bases , Niño , Codón sin Sentido/genética , Citosina , Exones/genética , Femenino , Mutación del Sistema de Lectura/genética , Hiperplasia Gingival/genética , Homocigoto , Humanos , Leucina/genética , Marruecos , Síndrome , TiminaRESUMEN
INTRODUCTION: Cardiac gunshot injuries are fatal and very challenging to manage for surgeons. Unfortunately, there is no consensus regarding the management of these patients. CASE PRESENTATION: We report an unusual case of a cardiac injury after an indirect gunshot to the heart. The 59 years-old male was hemodynamically stable which allowed us to do further investigations revealing a bullets fragment in the interventricular septum without other complication. Conservative management was decided with a careful regular follow-up. CONCLUSION: Cardiac gunshot injuries must be managed aggressively in hemodynamically unstable patients. In stable patients, further investigations can be done to allow decision-making.
Asunto(s)
Lesiones Cardíacas , Heridas por Arma de Fuego , Humanos , Masculino , Persona de Mediana Edad , Heridas por Arma de Fuego/complicaciones , Heridas por Arma de Fuego/cirugía , Lesiones Cardíacas/etiologíaAsunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 19/genética , Craneosinostosis , Hemoglobina Fetal/metabolismo , Factores de Transcripción de Tipo Kruppel/genética , Trastornos del Desarrollo del Lenguaje , Trastornos Psicomotores , Craneosinostosis/sangre , Craneosinostosis/genética , Femenino , Hemoglobina Fetal/genética , Humanos , Trastornos del Desarrollo del Lenguaje/sangre , Trastornos del Desarrollo del Lenguaje/genética , Masculino , Trastornos Psicomotores/sangre , Trastornos Psicomotores/genéticaRESUMEN
Malignant psoas syndrome (MPS) is very rare with poor prognosis, and usually occurs in patients with advanced and recurrent cancer. Authors report herein the case of a 48-year-old female with history of neoadjuvant chemotherapy has been performed before hysterectomy with bilateral adnexectomy and ovariectomy for ovarian adenocarcinoma. She presented 18 months posttreatment with MPS due to a psoas abscess mimicking metastasis confirmed on computed tomography guided fine needle aspiration cytology.
Asunto(s)
Adenocarcinoma/patología , Neoplasias Ováricas/patología , Absceso del Psoas/diagnóstico , Adenocarcinoma/terapia , Biopsia con Aguja Fina , Femenino , Humanos , Histerectomía , Persona de Mediana Edad , Terapia Neoadyuvante , Neoplasias Ováricas/terapia , Ovariectomía , Absceso del Psoas/patología , Tomografía Computarizada por Rayos XRESUMEN
Introducción: la enfermedad de Behçet es una vasculitis sistémica de etiología desconocida que afecta generalmente a adultos jóvenes y que puede producir manifestaciones sistémicas (oftálmicas, neurológicas, cardíacas, pulmonares, vasculares y renales) que con frecuencia son la causa final de muerte de estos pacientes. Caso clínico: presentamos el caso clínico de un paciente varón de 56 años con criterios clínicos para el diagnóstico de la enfermedad de Behçet (lesión oral y ulceración genital recurrente) que presentó la rotura de un aneurisma de aorta abdominal. El tratamiento quirúrgico fue mediante resección del aneurisma y reparación de la aorta asociado a terapia inmunosupresora. El posoperatorio cursó con buena evolución. Discusión: la enfermedad de Behçet se asocia con frecuencia a manifestaciones vasculares a diferentes niveles, por lo que el tratamiento debe individualizarse.(AU)
Background: Behçet´s disease is a systemic vasculitis of unknown etiology, which generally affects young adults and can produce systemic manifestations (ophthalmic, neurological, cardiac, pulmonary, vascular and renal), which are often the final cause of death in these patients.Case report: we present the clinical case of a 56-year-old male patient with clinical criteria for the diagnosis of Behçets disease (oral lesion and recurrent genital ulceration) who presented a ruptured abdominal aortic aneurysm. Surgical treatment was by resection of the aneurysm and repair of the aorta associated with immunosuppressive therapy. The postoperative period evolved satisfactorily. Disussion: Behçet´s disease is frequently associated with vascular manifestations at different levels, so treatment must be individualized.(AU)
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Aneurisma de la Aorta Abdominal , Síndrome de Behçet/diagnóstico por imagen , Síndrome de Behçet/cirugía , Rotura de la Aorta , Resultado del Tratamiento , Pacientes Internos , Examen Físico , Evaluación de Síntomas , Sistema Cardiovascular , Vasos Linfáticos , Vasos Sanguíneos , Sistema LinfáticoRESUMEN
INTRODUCTION: Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all teeth, including both primary and permanent dentition. To the best of our knowledge, this is the first case report of a rare association of amelogenesis imperfecta, platyspondyly, and bicytopenia. CASE PRESENTATION: A 5-year-old Moroccan boy was examined in the Centre for Dental Consultation and Treatment, Faculty of Dentistry, Rabat. He was a child of consanguineous parents (first degree). The child failed to thrive (-4 standard deviation score) and displayed delayed overall development. A dental examination revealed a hypoplastic amelogenesis imperfecta with a bacterial biofilm deposit on tooth surfaces. A complete blood count revealed bicytopenia (normocytic-normochromic anemia with thrombocytopenia). A radiographic examination of the spinal column showed a deviation of the spine in the frontal plane in the form of thoracolumbar scoliosis. The interpedicular distance was not expanded; but a mild platyspondyly exists, especially pronounced in T11 and T12. CONCLUSIONS: No other family members presented amelogenesis imperfecta, bicytopenia, or platyspondyly. The consanguineous marriage suggested an autosomal recessive mode of inheritance. Further studies are necessary to clarify the genetic defect producing this syndrome, and the symptomatic associations of amelogenesis imperfecta, platyspondyly and bicytopenia.
Asunto(s)
Amelogénesis Imperfecta/sangre , Esmalte Dental/anomalías , Osteocondrodisplasias/sangre , Pancitopenia/sangre , Recuento de Células Sanguíneas , Preescolar , Humanos , MasculinoRESUMEN
BACKGROUND: Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. OBJECTIVE: Molecular study of BRCA2 gene in man with familial breast cancer. METHODS: PCR and direct sequencing of BRCA2 gene. RESULTS: Identification of novel heterozygous germline mutation c.6428C>A ; p.Ser2143Stop of BRCA2 gene.
Asunto(s)
Neoplasias de la Mama Masculina/genética , Codón sin Sentido/genética , Genes BRCA2 , Predisposición Genética a la Enfermedad , Adulto , Neoplasias de la Mama/sangre , Neoplasias de la Mama/genética , Neoplasias de la Mama Masculina/terapia , Análisis Mutacional de ADN , Humanos , Masculino , Marruecos , Resultado del TratamientoRESUMEN
To our knowledge, we report the first case of improvement of HIV-associated cutaneous CD8(+) pseudolymphoma with highly active antiretroviral therapy. This favors the hypothesis of a reactive cutaneous infiltration by HIV-specific cytotoxic T cells in this disease.