Identifying Genetic Modifiers in the Age of Exome: Current Considerations

Critical congenital heart disease (CHD) refers to structural heart malformations present at birth that require surgical intervention during the first year of life. Despite advances in diagnosis, surgical strategies, and postoperative management, morbidity and mortality remain high for this patient group. Previous studies have identified that clinical variables such as premature birth, age, and body weight at surgery only partially define the risk for adverse outcomes. Identifying additional possible risk factors is of great clinical interest because this knowledge could be used to improve outcomes.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research

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Abbott Laboratories is bringing two of its pediatric devices in the cardiology space to Europe. The Abbott Park, IL-based company has received CE mark for both the Masters HP 15mm rotatable mechanical heart valve and the Amplatzer Piccolo Occluder. The Masters valve is the world's smallest mechanical heart valve and allows doctors to treat babies and toddlers in need of a mitral or aortic heart valve replacement. Until Abbott's device, surgeons could only use a range of larger-sized valves to replace a pediatric heart valve that could not be repaired, which could result in improper fit and complications. The Masters pediat...
Source: MDDI - Category: Medical Devices Authors: Tags: Cardiovascular Source Type: news
AbstractWhen should doctors seek protective custody to override a parent ’s refusal of potentially lifesaving treatment for their child? The answer to this question seemingly has different answers for different subspecialties of pediatrics. This paper specifically looks at different thresholds for physicians overriding parental refusals of life-sustaining treatment bet ween neonatology, cardiology, and oncology. The threshold for mandating treatment of premature babies seems to be a survival rate of 25–50%. This is not the case when the treatment in question is open heart surgery for a child with congenital hea...
Source: HEC Forum - Category: Medical Ethics Source Type: research
ConclusionThe overall estimated incidence of AF and recurrent AF during pregnancy is as high as 2.2% and 39.2%, respectively. AF during pregnancy may result in poor maternal and fetal outcomes.
Source: Advances in Medical Sciences - Category: Biomedical Science Source Type: research
CONCLUSION: The overall estimated incidence of AF and recurrent AF during pregnancy is as high as 2.2% and 39.2%, respectively. AF during pregnancy may result in poor maternal and fetal outcomes. PMID: 31521944 [PubMed - as supplied by publisher]
Source: Advances in Medical Sciences - Category: Biomedical Science Authors: Tags: Adv Med Sci Source Type: research
Pulmonary hypertension (PAH) among children and adults has been linked to premature birth, even after adjustments for known risk factors such as congenital heart disease and chronic lung disease. The aim of th...
Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Research article Source Type: research
Did you know that tooth decay is the most common chronic disease of childhood? And that 40% of children have tooth decay by kindergarten? This is a big deal, not only because of the pain and infection it can cause, but also because children with tooth decay are more likely to miss school and have poorer grades — and because tooth decay is linked to a higher risk of many health problems later in life, including heart disease and premature birth. Tooth decay is simple to prevent, yet sadly, many families don’t take the steps that are needed. 1.   Don’t skip the fluoride. Fluoride is very helpful w...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Children's Health Dental Health Parenting Source Type: blogs
This study was hypothesis-driven; the genetic variants were selected for being previously and substantially genotyped. The big sample size and the rich panel of other biomarkers allowed the authors to conduct much more detailed analyses on this topic. The third article by Provenzi et al. proposed their perspectives on the role of telomeres in premature birth and discussed the potential implications for early adversity and care in the neonatal intensive care unit (Pavanello et al.). Indeed, the speculation of telomeres in aging begins in the premature aging syndrome. It is thus interesting to examine if telomeres also play...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
This study is complemented by another report that found that hRSV infection induces significant expression of three miRNAs, namely hsa-miR-4448, hsa-miR-30a-5p, and hsa-miR-4634 in human DCs (104). Interestingly, this latter study also performed comparative analyses of miRNA profiles between DCs infected with hRSV and a related virus, namely the human metapneumovirus, and found that both viruses induced the expression of elevated levels of hsa-miR-4634. Elucidating the contribution of these miRNAs in DCs in response to hRSV remains to be determined. Dendritic Cell Phenotype and Migration Upon hRSV Infection in vivo Altho...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Born at 27 weeks, twin babies Irie and Judah Felkner of Columbus, Ohio, were both fighting for their lives in the neonatal intensive care unit when an echocardiogram revealed Irie had a patent ductus arteriosus (PDA) that required immediate treatment. "The doctor thought Abbott's Amplatzer Piccolo device was the best solution for Irie, and after learning more about the procedure we decided to move forward," said Crissa Felkner, Irie's mother. "You have to live it to fully appreciate what that device did for our daughter. Three days after the procedure, she was making great progress and is now a normal toddle...
Source: MDDI - Category: Medical Devices Authors: Tags: Business Source Type: news
AbstractBackgroundPassive immunization against RSV (Respiratory Syncytial Virus) is given in most western countries (including Israel) to infants of high risk groups such as premature babies, and infants with Congenital Heart Disease or Congenital Lung Disease. However, immunoprophylaxis costs are extremely high ($2800 –$4200 per infant). Using cost-utility analysis criteria, we evaluate whether it is justified to expand, continue or restrict nationwide immunoprophylaxis using palivizumab of high risk infants against RSV.MethodsEpidemiological, demographic, health service utilisation and economic data were integrated...
Source: Israel Journal of Health Policy Research - Category: International Medicine & Public Health Source Type: research
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