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    <recommendedItem id="20100101_19_202"
                     title="Survival Rates Vary with Congenital Anomalies (CME/CE)"
                     score="-0.002"
                     href="http://www.medpagetoday.com/Pediatrics/GeneralPediatrics/tb/18035?impressionId=1265799591280"
                     
      &lt;p&gt;Survival among children with congenital anomalies has increased in recent decades, but still varies notably depending on the condition, a British study found.&lt;/p&gt;
&lt;p&gt;Overall 20-year survival was 85.5% (95% CI 84.8 to 86.3) among children born with at least one congenital anomaly, Peter W.G. Tennant, MsC, of Newcastle University, and colleagues reported online in &lt;em&gt;Lancet&lt;/em&gt;.&lt;/p&gt;
&lt;p&gt;For specific conditions, the 20-year survival rates were as follows: &lt;ul&gt; &lt;li&gt;Orofacial clefts, 97.6% (95% CI 95.9 to 98.6)&lt;/li&gt; &lt;li&gt;Urinary system, 93.2% (95% CI 91.6 to 94.5)&lt;/li&gt; &lt;li&gt;Cardiovascular system, 89.5% (95% CI 88.4 to 90.6)&lt;/li&gt; &lt;li&gt;Digestive system, 83.2% (95% CI 79.8 to 86)&lt;/li&gt; &lt;li&gt;Chromosomal anomalies, 79.1% (95% CI 76.6 to 81.3)&lt;/li&gt; &lt;li&gt;Nervous system, 66.2% (95% CI 61.5 to 70.5)&lt;/li&gt; &lt;/ul&gt;&lt;/p&gt;
&lt;p&gt;Congenital anomalies are recognized as a major cause of perinatal and infant mortality, but little is known about longer-term survival with conditions other than Down syndrome or spina bifida.&lt;/p&gt;
&lt;p&gt;So Tennant and colleagues analyzed data from the Northern Congenital Abnormality Survey, which is a population-based register for the north of England.&lt;/p&gt;
&lt;p&gt;Their study included 13,758 cases of congenital anomaly reported to the registry between January 1985 and December 2003, representing a prevalence of 20.8 per 1,000 births.&lt;/p&gt;
&lt;p&gt;Among these, 0.9% were late miscarriages, 16.3% were terminations after prenatal diagnosis, 3.1% were stillbirths, and 79.7% were live births.&lt;/p&gt;
&lt;p&gt;Of the 10,850 liveborn cases for whom survival status was known, 1,465 (13.5%) died during the course of the study.&lt;/p&gt;
&lt;p&gt;Year of birth was a highly significant predictor of survival, (HR 0.92, 95% CI 0.92 to 0.93, &lt;em&gt;P&lt;/em&gt;&amp;lt;0.0001), which likely relates to important medical and surgical advances such as surfactant therapy and corticosteroid use for respiratory distress syndrome, as well as intrapartum treatment for chorioamnionitis.&lt;/p&gt;
&lt;p&gt;The rate of termination for fetal anomaly increased over time, rising from 12.4% (95% CI 9.8 to 15.5) in 1985 to 18.3% (95% CI 15.6 to 21.2) in 2003.&lt;/p&gt;
&lt;p&gt;The investigators further analyzed survival among specific subtypes of anomalies and found rates of 20-year survival exceeding 95% for the following: &lt;ul&gt; &lt;li&gt;Ventricular septal defects, 98.3% (95% CI 96.6 to 99.1)&lt;/li&gt; &lt;li&gt;Pulmonary valve stenosis, 98.1% (95% CI 96.1 to 99.1)&lt;/li&gt; &lt;li&gt;Cleft lip and palate, 97.7% (95% CI 94.6 to 99.1)&lt;/li&gt; &lt;li&gt;Atrial septal defects, 96.3% (95% CI 93.3 to 98)&lt;/li&gt; &lt;li&gt;Cleft palate, 96.3% (95% CI 92.8 to 98.1)&lt;/li&gt; &lt;/ul&gt;&lt;/p&gt;
&lt;p&gt;In contrast, subtypes with less than 50% one-year survival included arhinencephaly/holoprosencephaly, common arterial trunk, and hypoplastic left heart.&lt;/p&gt;
&lt;p&gt;Previous studies have found ten-year survival rates ranging from 76.5% to 88.6% for Down syndrome, 80.9% for all phenotypes of spina bifida, and 64% for spina bifida with hydrocephalus.&lt;/p&gt;
&lt;p&gt;In this study, the ten-year survival for Down syndrome was 83.9%, which probably reflects differences in care over time and by location, as well as surgical management and changing rates of terminations.&lt;/p&gt;
&lt;p&gt;The ten-year survival for spina bifida without hydrocephalus was 86.7% but fell to 53.3% with hydrocephalus, and 20-year survival remained 36.7% lower in those having hydrocephalus (95% CI 24 to 40, &lt;em&gt;P&lt;/em&gt;&amp;lt;0.0001).&lt;/p&gt;
&lt;p&gt;Previous estimates of survival among children with cardiovascular anomalies ranged from 74.7% to 76.9% at five years, which are substantially lower than the 91.1% reported in the present study.&lt;/p&gt;
&lt;p&gt;As with Down syndrome, this may represent advances in care, but also may reflect the fact that the investigators stratified cases according to the presence of multiple anomalies.&lt;/p&gt;
&lt;p&gt;&quot;This effect is inconsequential for primary anomalies with a high mortality rate, such as hypoplastic left heart syndrome, since the effect of the primary anomaly is likely to overwhelm the effect of any additional anomalies. However, as the severity of the primary anomaly decreases, the confounding effect of any additional anomalies is likely to increase,&quot; they explained.&lt;/p&gt;
&lt;p&gt;For example, the 20-year survival of 98.3% for ventricular septal defect would have fallen to 91.7% if multiple anomalies had not been classified separately.&lt;/p&gt;
&lt;p&gt;The biggest limitation of the study was that only 10% of patients were born twenty years before the matching date of the study (Jan. 28, 2008) so that 20-year survival rates were only estimates for most of the anomaly subtypes.&lt;/p&gt;
&lt;p&gt;In an accompanying editorial, David H. Stone, MD, of the University of Glasgow, called for more research and funding for congenital anomalies.&lt;/p&gt;
&lt;p&gt;&quot;Birth-defect registries have had a chequered history since their initial proliferation after the thalidomide disaster,&quot; he wrote.&lt;/p&gt;
&lt;p&gt;They are a crucial source of data, but face an endless struggle for funding, with the result that good quality data on etiology, prevalence, and outcomes are sparse.&lt;/p&gt;
&lt;p&gt;&quot;The publication of today&apos;s findings from the north of England should provide a much-needed boost to the cause of congenital anomaly surveillance,&quot; Stone concluded.&lt;/p&gt;
&lt;div style=&quot;float:left;border-style:solid;border-width:1px;border-color:#8dabbc;font-family:arial;font-size:12px;background-color:#DBE9F2;padding:5px;&quot;&gt;&lt;p&gt;Funding for the study was provided by BDF Newlife.&lt;/p&gt;&lt;p&gt;All investigators and the editorialist declared no conflicts of interest.&lt;/p&gt;&lt;/div&gt;&lt;div style=&quot;clear:both;&quot;&gt;&lt;/div&gt;
    </recommendedItem>
    <recommendedItem id="20090101_19_4005"
                     title="Test Picks Up T-Cell Deficiency Early (CME/CE)"
                     score="-0.005"
                     href="http://www.medpagetoday.com/Pediatrics/GeneralPediatrics/tb/17408?impressionId=1265799591280"
                     
      &lt;p&gt;An inexpensive test can identify infants with T-cell lymphopenia, researchers in Wisconsin say.&lt;/p&gt;
&lt;p&gt;In a year-long study, all babies born in the state had their blood analyzed using the test, which costs about $5.50, according to John M. Routes, MD, of the Medical College of Wisconsin in Milwaukee, and colleagues.&lt;/p&gt;
&lt;p&gt;The testing detected eight infants with various forms of T-cell lymphopenia, Routes and colleagues reported in the Dec. 9 &lt;em&gt;Journal of the American Medical Association&lt;/em&gt;.&lt;/p&gt;
&lt;p&gt;The issue is important, the researchers argued in the journal, because infants with such deficiencies often appear normal at birth, but their long-term prognosis is &quot;markedly improved&quot; by early diagnosis.&lt;/p&gt;
&lt;p&gt;Earlier studies had found that counting so-called T-cell receptor excision circles (TRECs) in newborns&apos; blood samples could detect infants with severe combined immunodeficiency (SCID), the researchers noted.&lt;/p&gt;
&lt;p&gt;TRECs are small, episomal pieces of DNA formed during the differentiation of T cells in the thymus, Routes and colleagues wrote. One in particular  --  the &amp;#948;Rec-&amp;#968;J&amp;#945; TREC  --  serves as a surrogate marker for the number of na&amp;#239;ve T cells and was the target of the test, they wrote.&lt;/p&gt;
&lt;p&gt;For the study, the researchers used the routinely collected newborn blood samples of all 71,000 children born in Wisconsin in 2008. Using polymerase chain reaction methods, they counted the &amp;#948;Rec-&amp;#968;J&amp;#945; TRECs in about three microliters of blood form each infant.&lt;/p&gt;
&lt;p&gt;On average, the samples contained 225 TRECs per microliter and a median of 186. But if an infant&apos;s sample contained fewer than 25 TRECs per microliter, the number was regarded as abnormally low and further samples were analyzed by flow cytometry.&lt;/p&gt;
&lt;p&gt;All told, the researchers reported, 17 infants with at least 37 weeks&apos; gestation had a first test that was abnormal but four had a second normal TREC test. On infant died and permission was refused for flow cytometry in one case.&lt;/p&gt;
&lt;p&gt;The remaining 11 had a flow cytometry analysis and eight infants were confirmed to have T-cell lymphopenia, Routes and colleagues said, including:&lt;ul&gt; &lt;li&gt;Two with DiGeorge syndrome.&lt;/li&gt; &lt;li&gt;Two with idiopathic T-cell lymphopenia.&lt;/li&gt; &lt;li&gt;Three with extravascular extravasation of lymphocytes, which were resolved with medical treatment.&lt;/li&gt; &lt;li&gt;One with a &lt;em&gt;Rac2&lt;/em&gt; mutation. The infant underwent successful cord blood transplantation.&lt;/li&gt; &lt;/ul&gt;&lt;/p&gt;
&lt;p&gt;The findings  --  combined with the low cost of the test  --  suggest it may be cost-effective, &quot;although a formal cost-effectiveness analysis is needed,&quot; the researchers said.&lt;/p&gt;
&lt;p&gt;One limitation of the study is that the researchers do not know the number of infants born in 2008 in Wisconsin with clinically significant T-cell lymphopenia, they reported. The lack of that information makes it impossible to calculate the true sensitivity and specificity of the test, they wrote.&lt;/p&gt;
&lt;div style=&quot;float:left;border-style:solid;border-width:1px;border-color:#8dabbc;font-family:arial;font-size:12px;background-color:#DBE9F2;padding:5px;&quot;&gt;&lt;p&gt;The study was supported by the Children&apos;s Hospital of Wisconsin, the Jeffrey Modell Foundation, the Wisconsin State Laboratory of Hygiene, and the CDC. There were no financial disclosures.&lt;/p&gt;&lt;/div&gt;&lt;div style=&quot;clear:both;&quot;&gt;&lt;/div&gt;
    </recommendedItem>
    <recommendedItem id="20090101_1_75"
                     title="Common Gene Variant Linked to African American SIDS"
                     score="-0.006"
                     href="