The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.
Background-Fetal atrioventricular (AV) block is an uncommon lesion with significant mortality. Because of the rarity of this disorder, the natural course, extensive evaluation of untreated fetuses, and late follow-up remain unclear. Methods and Results-Of the 116 consecutive cases of fetal AV block studied from 1988 to 2006, only 1 was terminated, and 75% were live births. Fifty-nine cases of AV block were associated with major structural heart disease, mainly left atrial isomerism (nϭ40), with only 26% of neonatal survivors. Of the 57 fetuses with normal cardiac anatomy, 41 (72%) were positive for maternal antinuclear antibodies, and 32 of these seropositive mothers did not receive any treatment. This untreated group had live-birth and 1-year infant survival rates of 93% and 90%, respectively. Five fetuses from seronegative mothers showed regression to sinus rhythm during pregnancy. The presence of major structural heart disease, hydrops, an atrial rate Յ120 bpm, and a ventricular rate Յ55 bpm were identified as risk factors for mortality. Logistic regression analysis of the whole group showed that the presence of structural heart disease was the only independent predictor of death (PϽ0.001). Conclusions-This long-term study confirms that fetal AV block has a poor outcome when associated with structural heart disease and that spontaneous regression of AV block is possible in seronegative forms. The survival rate of Ͼ90% of our untreated patients with isolated forms of AV block raises concerns about any decision to intervene with immunosuppressive agents. (Circulation. 2008;118:1268-1275.)
We wish to thank Marijon for his comments on our recent article. 1 We were also surprised with our results, which showed that in fetuses with normal cardiac anatomy, fetal, neonatal, and late death were not related to the presence or absence of anti-RO (SS-A) antibodies (29 positive anti-RO and 9 negative anti-RO of 38 surviving; PϾ0.05). Although our data showed no significant differences between the 2 groups in terms of fetal, neonatal, or late deaths, we agree that the finding of maternal autoantibodies is of great importance not only because they are mainly related to the genesis of the heart block (72% in our series) but also because they are related to the late outcome of maternal autoimmune diseases and dilated cardiomyopathy (DCM). Of course, these 2 entities differ completely in terms of pathophysiology and may also do so in terms of prognosis. Moreover, we do not have a ready explanation for the great differences in the incidence of DCM between our series and the series described by Villain et al. 2 Although the title of this long-term study was "Perinatal Outcome of Fetal Av Block," we have not focused only on this period and all patients were carefully followed up using the classically accepted diagnostic criteria for DCM 3 and by physicians with expertise in pediatric cardiology. Our incidence of DCM was 6% (2/32 neonatal survivors of seropositive mothers), similar to those of other studies, 4,5 and we are therefore sure that there has not been any kind of underestimation of DCM in this series.We also wish to thank Jaeggi et al for their comments about our recent article. 1 Of course, not all forms of isolated atrioventricular (AV) block have the same risks or outcome, and we think this article supports this idea, seeing that it presents many different aspects of this complex disorder:First, we included all cases of AV block diagnosed by the first fetal echocardiogram, not to "improve survival estimates by 7%," but because our intention was to show the natural history of this disease by not having any interruption in the isolated group. Even excluding cases that showed spontaneous regression of the AV block (all seronegative), page 1272 still showed that the 32 seropositive untreated fetuses had live birth and 1-year survival rates of 93% (95% confidence interval, 85 to 100) and 90% (95% confidence interval, 80 to 100), respectively. Moreover, after Ͼ20 years working with fetal echocardiography, we can affirm that minimal differences in the interatrial interval could occur in 2:1 AV block, and we should not celebrate when this aspect is present and immediately counsel the parents that everything will work itself out. When we perform the first fetal echocardiogram, we know neither the antibody status of the mother nor the "functional nature" of the heart block, and it is necessary to exercise caution before predicting a happy ending. We agree that Figure 3B shows some shadows that resemble atrial wall movement differing in time, but Figure 3A clearly shows that the intervals between atrial contractio...
O tratamento convencional da trombose venosa profunda na fase aguda consiste em restrição ao leito. Porém, estudos recentes contestam essa abordagem terapêutica, enfatizando que a mobilização precoce propicia resultados clínicos favoráveis. O objetivo deste estudo foi pesquisar em literatura científica, principalmente ensaios clínicos controlados, sobre a mobilização precoce de pacientes portadores de trombose venosa profunda de membros inferiores na fase aguda. Utilizou-se como estratégia de pesquisa o site PubMed para a busca de estudos relacionados à mobilização precoce, deambulação e trombose venosa profunda na fase aguda. Os artigos consultados abrangeram o período de 1992 a 2007. Em todos os estudos, a mobilização precoce esteve associada à heparina de baixo peso molecular e a terapia de compressão. Estudos avaliados nesta revisão têm demonstrado os benefícios na redução da dor e edema, com melhora da qualidade de vida, pela estratégia terapêutica de mobilização precoce em combinação com anticoagulação e compressão da perna na trombose venosa profunda, sem que ocorra maior risco de desfechos relevantes, como embolia pulmonar e morte.
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