Supravalvular aortic stenosis and coronary aneurysm]

A 32-year old woman, with endocarditis caused by Streptococcus mitis, and systolic murmur is presented. The Doppler examination was found a systolic gradient of 150 mmHg. Aortography showed a multiple membranous supravalvular aortic stenosis, with aneurysmal dilatation of the left main coronary artery and circumflex artery, associated with bicuspid aortic valve and mild aortic insufficiency. The patient died suddenly by cardiac arrest in stand by to cardiac surgery. Anatomic comprobation was not possible. The coronary artery anomalies associated with the supravalvular aortic stenosis syndrome are reviewed.     

KCNJ2 mutations in arrhythmia patients referred for LQT testing: A mutation T305A with novel effect on rectification properties

BACKGROUND: Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features. Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS? OBJECTIVES: The purpose of this study was to identify and characterize mutations in the KCNJ2-encoded inward rectifier potassium channel Kir2.1 from patients referred for genetic arrhythmia testing. METHODS: Mutational analysis of KCNJ2 was performed for 541 unrelated patients. The mutations were made in wild type (WT) and expressed in COS-1 cells and voltage clamped for ion currents. RESULTS: Three novel missense mutations (R67Q, R85W, and T305A) and one known mutation (T75M) were identified in 4/249 (1.6%) patients genotype-negative for other known arrhythmia genes with overall incidence 4/541 (0.74%). They had prominent U-waves, marked ventricular ectopy, and polymorphic ventricular tachycardia but no facial/skeletal abnormalities. Periodic paralysis was present in only one case. Outward current was decreased to less than 5% of WT for all mutants expressed alone. Co-expression with WT (simulating heterozygosity) caused a marked dominant negative effect for T75M and R82W, no dominant negative effect for R67Q, and a novel selective enhancement of inward rectification for T305A. CONCLUSIONS: KCNJ2 loss of function mutations were found in approximately 1% of patients referred for genetic arrhythmia testing that lacked criteria for ATS. Characterization of three new mutations identified a novel dominant negative effect selectively reducing outward current for T305A. These results extend the range of clinical phenotype and molecular phenotype associated with KCNJ2 mutations.     

Bilateral pleural effusion and ascites in the ovarian hyperstimulation syndrome.

We describe a pregnant woman with ovarian hyperstimulation syndrome with bilateral pleural effusion and ascites. Ovarian hyperstimulation syndrome is an iatrogenic complication of ovarian stimulation, characterized by a massive crossing of a protein-rich fluid from the vascular compartment into the peritoneal, pleural, or to a lesser extent, pericardial cavities. Management is usually conservative, with fluid and electrolytes correction and thromboprophylaxis. Prevention is very difficult, but an age younger than 35 years, low body mass index, polycystic ovarian disease, a high number of follicles, a high plasma oestradiol concentration, pregnancy, hyperandrogenism, and hypothyroidism are predisposing factors.     

Development of an in vitro burn wound model

Healing of a deeper burn wound is a complex process that often leads to scar formation. Skin wound model systems are important for the development of treatments preventing scarring. The aim of this study is to develop a standardized in vitro burn wound model that resembles the in vivo situation. A burn wound (10 × 2 mm) was made in ex vivo skin and the skin samples were cultured at the air–liquid interface for 7, 14, and 21 days. Cells in the skin biopsies maintained their viability during the 21-day culture period. During culture, reepithelialization of the wound took place from the surrounding tissue and fibroblasts migrated into the wound area. Cells of the epithelial tongue and fibroblasts near the wound margin were proliferating. During culture, skin-derived antileukoproteinase and keratin 17 were expressed only in the epithelial tongue. Both collagen type IV and laminin were present underneath the newly formed epidermis, indicating that the basement membrane was restored. These results show that the burn wound model has many similarities to in vivo wound healing. This burn wound model may be useful to study different aspects of wound healing and testing pharmaceuticals and cosmetics on, e.g., migration and reepithelialization.     

Pseudotumor associated with polytetrafluoroethylene sleeves

We report the case of a patient who was operated on in February 2001. We performed a wedge resection of the upper right lobe. The pathologic examination demonstrated a lung adenocarcinoma (pT2N0M0, R0). We used staple line reinforcement material (ePTFE) during the operation because the patient had an important emphysema. We re-operated in January 2005 because during follow-up we observed a suspicious image that suggested a tumoral relapse. Histopathological study showed extrinsic material compatible with the one used in the original resection.     

El cultivo celular en la investigación básica del cáncer de mama

Resumen La técnica del cultivo celular es la que ha permitido conocer el comportamientoin vitro de las células cancerosas. En esta revisión pretendemos introducir las peculiaridades básicas del cultivo celular, referido especialmente a líneas cancerosas mamarias, relacionar el origen de las líneas celulares más utilizadas en la investigación de este cáncer, mencionar las técnicas de laboratorio que pueden aplicarse sobre estos cultivos y ejemplificar la utilidad de las mismas, tomando como modelo diversos trabajos que estudian los efectos del factor de crecimiento epidérmico sobre líneas celulares hormonoindependientes de cáncer de mama.