“Uma Boa Morte” – Cirurgia Paliativa na Trissomia 18

A trissomia 18 caracteriza-se por múltiplas anomalias, incluindo doença cardíaca em 60 a 90% dos casos e elevada mortalidade. O mau prognóstico global, conduz habitualmente a uma politica de “cuidados mínimos” mas, paliar, é também nestas situações, um imperativo ético. Descreve-se o caso de uma recém-nascida sem diagnóstico pré natal, mas com confirmação por cariotipo, com cardiopatia, que condicionou insuficiência cardíaca congestiva e angústia respiratória crescente, inviabilizando alta hospitalar, como era desejo da família. Após consenso entre os pais e o corpo clínico responsável, foi decidida intervenção cirúrgica cardíaca paliativa, que possibilitou melhoria clínica e alta para o domicílio. Os autores defendem que a cirurgia cardíaca pode ser uma atitude a considerar em casos de trissomia 18, pois pode aliviar o sofrimento.

Routine Transthoracic Echocardiography in a General Intensive Care Unit: an 18 Month Survey in 704 Patients

The authors analyzed 704 transthoracic echocardiographic (TTE) examinations, performed routinely to all admitted patients to a general 16-bed Intensive Care Unit (ICU) during an 18-month period. Data acquisition and prevalence of abnormalities of cardiac structures and function were assessed, as well as the new, previously unknown severe diagnoses. A TTE was performed within the first 24 h of admission on 704 consecutive patients, with a mean age of 61.5+/-17.5 years, ICU stay of 10.6+/-17.1 days, APACHE II 22.6+/-8.9, and SAPS II 52.7+/-20.4. In four patients, TTE could not be performed. Left ventricular (LV) dimensions were quantified in 689 (97.8%) patients, and LV function in 670 (95.2%) patients. Cardiac output (CO) was determined in 610 (86.7%), and mitral E/A in 399 (85.9% of patients in sinus rhythm). Echocardiographic abnormalities were detected in 234 (33%) patients, the most common being left atrial (LA) enlargement (n=163), and LV dysfunction (n=132). Patients with these alterations were older (66+/-16.5 vs 58.1+/-17.4, p<0.001), presented a higher APACHE II score (24.4+/-8.7 vs 21.1+/-8.9, p<0.001), and had a higher mortality rate (40.1% vs 25.4%, p<0.001). Severe, previously unknown echocardiographic diagnoses were detected in 53 (7.5%) patients; the most frequent condition was severe LV dysfunction. Through a multivariate logistic regression analysis, it was determined that mortality was affected by tricuspid regurgitation (p=0.016, CI 1.007-1.016) and ICU stay (p<0.001, CI 1-1.019). We conclude that TTE can detect most cardiac structures in a general ICU. One-third of the patients studied presented cardiac structural or functional alterations and 7.5% severe previously unknown diagnoses.

Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

Decreasing Incidence and Changes in Serotype Distribution of Invasive Pneumococcal Disease in Persons Aged Under 18 Years Since Introduction of 10-Valent and 13-Valent Conjugate Vaccines in Portugal, July 2008 to June 2012

The 10-valent pneumococcal conjugate vaccine (PCV10) became available in Portugal in mid-2009 and the 13-valent vaccine (PCV13) in early 2010. The incidence of invasive pneumococcal disease (IPD) in patients aged under 18 years decreased from 8.19 cases per 100,000 in 2008–09 to 4.52/100,000 in 2011–12. However, IPD incidence due to the serotypes included in the 7-valent conjugate vaccine (PCV7) in children aged under two years remained constant. This fall resulted from significant decreases in the number of cases due to: (i) the additional serotypes included in PCV10 and PCV13 (1, 5, 7F; from 37.6% to 20.6%), particularly serotype 1 in older children; and (ii) the additional serotypes included in PCV13 (3, 6A, 19A; from 31.6% to 16.2%), particularly serotype 19A in younger children. The decrease in serotype 19A before vaccination indicates that it was not triggered by PCV13 administration. The decrease of serotype 1 in all groups, concomitant with the introduction of PCV10, is also unlikely to have been triggered by vaccination, although PCVs may have intensified and supported these trends. PCV13 serotypes remain major causes of IPD, accounting for 63.2% of isolates recovered in Portugal in 2011–12, highlighting the potential role of enhanced vaccination in reducing paediatric IPD in Portugal.