Diagnosis, management and mortality in acute aortic syndrome: results of the Spanish Registry of Acute Aortic Syndrome (RESA-II).

BACKGROUND: Recent advances in the diagnosis and treatment of acute aortic syndrome should improve the outcome of this disease. The Spanish Registry of Acute Aortic Syndrome aimed to assess current results in acute aortic syndrome management in a wide cohort of hospitals in the same geographical area. METHODS: From January 2012 to January 2014, 26 tertiary hospitals included 629 consecutive patients with acute aortic syndrome: 73% men, mean age 64.7±14 years (range 22-92), 443 type A (70.4%) and 186 type B (29.6%). RESULTS: Time elapsed between symptom onset and diagnosis was <12 hours in 70.7% of cases and <24 hours in 84.0% (median 5 hours; 25th-75th percentiles, 2.7-15.5 hours). Computed tomography was the first diagnostic technique in 78% of patients and transthoracic echocardiography in 15%. Surgical treatment was indicated in 78.3% of type A acute aortic syndrome. The interval between diagnosis and surgery was 4.8 hours (quartile 1-3, 2.5-11.4 hours). Among the patients with type B acute aortic syndrome, treatment was medical in 116 cases (62.4%), endovascular in 61 (32.8%) and surgical in nine (4.8%). Type A mortality during hospitalisation was 25.1% in patients treated surgically and 68% in those treated medically. Mortality in type B was 13.8% in those with medical treatment, 18.0% with endovascular therapy and 33.0% with surgical treatment. CONCLUSION: Improvements in the diagnosis and treatment of acute aortic syndrome have not resulted in a significant reduction in hospital mortality. The results of this study reflect more overall and less selected information on acute aortic syndrome management and the need for sustained advances in the therapeutic strategy of acute aortic syndrome.

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue - GLA p.(Arg118Cys) -, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands' close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease. The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for "rare" condition.

Evaluation of the histologic changes in the fat-grafted facial skin: clinical trial.

BACKGROUND: Fat grafting is increasingly common in plastic surgery procedures. The discovery of stem cells in fat tissue has given a new direction to the use of fat as a therapeutic tool for other patient conditions. Only one experimental study in rats shows dermal changes after application of lipofilling. For this reason, the authors conducted this study to evaluate skin changes in patients after application of the technique. This study aimed to observe histologic changes in the skin of patients undergoing fat grafting. METHODS: Fat grafting was performed in the preauricular region on one side of patients undergoing face-lifts at the Jalisco Reconstructive Surgery Institute, Guadalajara, Mexico. Preauricular skin was used in this procedure as a withdrawal study and control condition. Hematoxylin-eosin and Masson staining was performed to assess dermal and epidermal thickness, vascularity, and collagen behavior. No inferential statistics were registered with the Wilcoxon test. RESULTS: The study investigated 16 patients to observe statistically significant differences in dermal thickness, the presence of immature collagen (neoformation), and arteries. No difference in epidermal thickness was observed. CONCLUSIONS: The study showed a regenerative effect with fat grafting that included an increased thickness of the dermis, collagen neoformation, and the presence of increased vascularity in local skin subjected to treatment. LEVEL OF EVIDENCE II: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Etiology and short-term prognosis of severe mitral regurgitation.

PURPOSE: To describe the etiology and to document the course of severe mitral regurgitation (MR). METHODS: Prospective registry of 272 patients diagnosed with chronic severe MR in an echocardiographic study. RESULTS: Mean age was 70.2 +/- 13.8 years and 143 patients were women (53%). The most frequent causes of regurgitation were rheumatic disease (72 patients; 26%), ischemic etiology (58; 21%), valve prolapse (57; 21%), and dilated cardiomyopathy (49; 18%). A total of 43 patients (16%) died during follow-up (mean 0.9 +/- 0.3 years, total 2,785 patient-months): 30 from cardiac causes, 9 from non-cardiac causes, and 4 from unknown causes. Actuarial transplant-free survival was 87% at 6 months, and 81% at 1 year. Renal disease, previous stroke, ischemic etiology, and poor left ventricular ejection fraction were independent predictors of mortality. CONCLUSIONS: Rheumatic disease is still the main cause of severe MR in Spain. Patients with severe MR have advanced age and present poor short-term prognosis.

Successful transcatheter closure of a postmyocardial infarction ventricular septal rupture in a patient rejected for cardiac surgery: usefulness of transesophageal echocardiography.

Acute ventricular septal rupture is a high-risk complication of myocardial infarction. Although early surgical treatment improves the prognosis of this condition, hospital mortality after emergency surgery ranges from 10% to 60%. Transcatheter closure is an established method of treating selected congenital septal defects; less experience exists regarding its usefulness for postmyocardial infarction ventricular septal defect. We report a case of successful transcatheter closure of a postmyocardial infarction ventricular septal defect with a septal occluder in a 71-year-old patient rejected for surgery.

Isolated noncompaction of the ventricular myocardium: infrequent because of missed diagnosis?

Isolated noncompaction of the ventricular myocardium is frequently mistaken for other cardiomyopathies. We report a case of a 49-year-old woman admitted to hospital for heart failure and initially given the diagnosis of apical hypertrophic cardiomyopathy. In this case, myocardial contrast echocardiography and magnetic resonance imaging played a pivotal role in establishing the diagnosis of isolated noncompaction of the ventricular myocardium.

Antecedentes perinatales y morbimortalidad del hijo de madre con preeclampsia severa / Neonatal outcome in women with severa preeclampsia

Objetivo. Determinar los principales antecedentes prenatales, las características clínicas, la morbilidad y la mortalidad de un grupo de neonatos hijos de madre con preeclampsia severa. Material y métodos. Estudio prospectivo, descriptivo, y longitudinal en un grupo de hijos de madre con preeclampsia severa que nacieron por operación cesárea en el hospital sede durante el periodo de 1o. de julio de 1994 al 31 de diciembre de 1996. Mediante estadística descriptiva se analizaron los principales antecedentes perinatales sus características clínicas y la morbimortalidad. Se excluyeron a los hijos de embarazos con alguna enfermedad asociada, los de embarazos múltiples, los que llegaron al hospital en periodo expulsivo, los nacidos por parto eutocico y los malformados. Resultados. De 276 hijos de madre con preeclampsia severa, se excluyeron a 40 neonatos. La población estudiada fue de 236 recién nacidos. Los antecedentes de la madre fueron: edad 24 ñ 6 años, gesta 2 ñ 1. De 110 madres con gesta uno o mas tuvieron antecedente de aborto en 24.5 por ciento, de cesárea en 32.7 por ciento y de preeclampsia previa en 7.2 por ciento. Las caterísticas de los neonatos fueron: edad gestacional 37 ñ 2 semanas, peso 2,623 ñ 717 g, talla 47.7 ñ 4.5 cm, índice de ponderación 2.36 ñ 0.33, Calificación de Apgar al minuto de 7 ñ 1 y a los 5 minutos de 8 ñ 0, los días de hospitalización 9 ñ 11 y 3 ñ 3 días de estancia extras de hospital por gravedad de la madre del 34.3 por ciento de neonatos que lo requirieron. Predominó el sexo masculino con 57.2 por ciento, se observó 18.6 por ciento con peso bajo para la edad gestacional (desnutridos in útero), 28 por ciento resultados con índice de ponderación por abajo de la centila 10 (crecimiento intrauterino desproporcionado). En 43.7 por ciento de estos neonatos se presento morbilidad y los tres primeros diagnósticos fueron ictericia (12.7 por ciento), hipoglucemia (7.2 por ciento), septicemia (5.9 por ciento), depresión neurológica por anestesia materna (5.5 por ciento) y policitemia (4.2 por ciento). La mortalidad fue del 3.8 por ciento. Conclusiones. La mayoría de las madres con preeclampsia severa se encontraron en edad reproductiva adecuada, la edad gestacional de los neonatos por lo general fue de término con peso adecuado para la edad gestacional. Los porcentajes de desnutrición intrauterina, crecimiento intrauterino no proporcional, la morbilidad y la mortalidad son menores a lo reportado en la literatura

Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis

The clinical suspicion of hereditary spherocytosis (HS) must be confirmed at the clinical laboratory. The osotic fragility test (OFT) and the autohemolysis test (AHT) are the worlwide accepted assays to establish a definitive diagnosis of HS; however, they have some disadvantages. We describe herein our experience with the cryohemolysis test (CHT) as a tool to confirm the HS diagnosis. We included four groups of subjects, namely, patients with clinical HS, patients with mechanical heart valve prosthesis, malignant hematological diseases and healthy blood donors. CHT was carried out in all the groups, while OFT and AHT only in the HS patients and healthy individuals. OFT and AHT were performed according to previously described techniques. CHT was performed using red blood cells incubated in a hypertonic solution, preheated for 10 min and then tranferred to an ice bath for an additional 10 min. The resulting cryohemolysis was determined mesuring the free hemoglobin in the sample. There were no differences among the groups in terms of general characteristics. All HS suspicious patients had a positive OFT and AHT. CHT was positive in all patients from the HS group but in none of the subjects from the control groups (p<0.001). We found that CHT is a faster and easier-to-perform assay compared with OFT and AHT. Moreover, using CHT, the zone between normal and abnormal results is wider than OFT or AHT. We propose 0.7 to 11 percent hemolysis as reference values for CHT