Fenotipos de válvula aórtica bicúspide y dilatación de aorta ascendente: estudio mediante cardiorresonancia.

El objetivo del estudio ha sido caracterizar mediante cardiorresonancia los fenotipos de válvula aórtica bicúspide (VAB) y su asociación con patrones de dilatación de aorta ascendente (AA). En este estudio la VAB fenotipo 1 (fusión velo coronario derecho -izquierdo) es la más prevalente y se asocia a coartación aórtica, insuficiencia aórtica moderada-severa y dilatación de raiz aórtica. El fenotipo 2 de VAB (fusión velo coronario derecho- no coronario) se asocia a dilatación de porción tubular aórtica. La edad predice dilatación de AA en pacientes con VAB y la estenosis aórtica moderada-severa es un factor protector contra dicha dilatación.

Notas nomenclaturales, taxonomicas y corologicas sobre el género Cuphea (Lythraceae) en el Paraguay.

Se presenta el tratamiento nomenclatural del genero Cuphea (Lythraceae) en el Paraguay, que reúne el nombre correcto para las 28 especies reconocidas y su correspondiente sinonimia. Para la mayoría de taxones que se mencionan en el texto se ha revisado su tipificación. Se tipifican por primera vez el subgénero Lytrocuphea Koehne y las secciones Brachyandra Koehne y Enatiocuphea Koehne y se lectotipifican C. tuberosa Cham. & Schltdl., C. inaequalifolia Koehne. C. punctulata Koehne, además de varios sinónimos. Se proponen las siguientes combinaciones nomenclaturales: C. corisperma subsp. hexasperma (Koehne) Duré & Molero. C. racemosa subsp. longiflora (Koehne) Duré & Molero y C. racemosa var. ramosior (Koehne ) Duré & Molero. Desde el punto de vista corológico se citan por primera vez para el Paraguay C. micrahtha Humb., Bonpl. & Kunth. Cuphea rusbyi Lourteig y C. sessilifoila Mart. Se incluyen también algunos comentarios taxonómicos sobre táxones críticos como C. corisperma Koehne, C. hassleri Koehne y C. racemosa (L. f.) Sprengel , entre otros.

Tuberous sclerosis: literature review and case report

Tuberous sclerosis (TS) or Bourneville"s disease is a rare, multisystemic genetic disorder. It involves alterations to ectodermal and mesodermal cell differentiation and proliferation, causing benign hamartomatous tumors, neurofibromas and angiofibromas in the brain and other vital organs including the kidney, heart, eyes, lungs, skin and mucosa. It also affects the central nervous system and produces neurological dysfunctions such as seizures, mental retardation and behavior disorders. Tuberous (rootshaped) growths develop in the brain, and calcify over time, becoming hard and sclerotic, hence the name given to the disease. Although inheritance is autosomal dominant, 60-70% of cases occur through spontaneous mutations. The disease is related to some mutations or alterations in two genes, named TSC1 and TSC2. Discovered in 1997, TSC1 is located on chromosome 9q34 and produces a protein called hamartin. TSC2, discovered in 1993, is located on chromosome 16p13 and produces a protein called tuberin. The prevalence of the disease is 1/6000-10,000 live newborns, and it is estimated that there are 1-2 million sufferers worldwide. This paper presents a literature review and a family case report of a mother and two of her daughters with oral features of TS

Tuberous sclerosis complex with oral manifestations: A case report and literature review

Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome produced by a number of genetic mutations. The disease is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas, gingival hyperplasia and enamel hypoplasia. Clinical Case: A 35-year-old woman diagnosed with TSC presented with a reactive fibroma of considerable size and rapid growth in the region of the right lower third molar. Discussion: In the present case the association of TSC with dental malpositioning gave rise to a rapidly evolving reactive fibroma of considerable diameter. Few similar cases can be found in the literature. Patients with TSC present mutations of the TSC1 and TSC2 genes, which intervene in cell cycle regulation and are important for avoiding neoplastic processes. No studies have been found associating TSC with an increased risk of oral cancer, though it has been shown that the over-expression of TSC2 could exert an antitumor effect. Careful oral and dental hygiene, together with regular visits to the dentist, are needed for the prevention and early detection of any type of oral lesion. The renal, pulmonary and cardiac alterations often seen in TSC must be taken into account for the correct management of these patients.