Boston Children's Hospital

About: Boston Children's Hospital is a healthcare organization based out in Boston, Massachusetts, United States. It is known for research contribution in the topics: Population & Transplantation. The organization has 165409 authors who have published 215589 publications receiving 6885627 citations.

Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

Abstract: Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to intra-abdominal edema. Resulting from mutations affecting C1 esterase inhibitor (C1-INH), inhibitor of the first complement system component, attacks are not histamine-mediated and do not respond to antihistamines or corticosteroids. Low awareness and resemblance to other disorders often delay diagnosis; despite availability of C1-INH replacement in some countries, no approved, safe acute attack therapy exists in the United States. The biennial C1 Esterase Inhibitor Deficiency Workshops resulted from a European initiative for better knowledge and treatment of HAE and related diseases. This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy. Most notably, it includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; suggested prophylaxis and acute attack treatment, including home treatment; future treatment options; and analysis of patient subpopulations, including pediatric patients and patients whose angioedema worsened during pregnancy or hormone administration. Causes and management of acquired angioedema and a new type of angioedema with normal C1-INH are also discussed. Collaborative patient and physician efforts, crucial in rare diseases, are emphasized. This supplement seeks to raise awareness and aid diagnosis of HAE, optimize treatment for all patients, and provide a platform for further research in this rare, partially understood disorder.

Functional Human Vascular Network Generated in Photocrosslinkable Gelatin Methacrylate Hydrogels.

Abstract: The generation of functional, 3D vascular networks is a fundamental prerequisite for the development of many future tissue engineering-based therapies. Current approaches in vascular network bioengineering are largely carried out using natural hydrogels as embedding scaffolds. However, most natural hydrogels present a poor mechanical stability and a suboptimal durability, which are critical limitations that hamper their widespread applicability. The search for improved hydrogels has become a priority in tissue engineering research. Here, the suitability of a photopolymerizable gelatin methacrylate (GelMA) hydrogel to support human progenitor cell-based formation of vascular networks is demonstrated. Using GelMA as the embedding scaffold, it is shown that 3D constructs containing human blood-derived endothelial colony-forming cells (ECFCs) and bone marrow-derived mesenchymal stem cells (MSCs) generate extensive capillary-like networks in vitro. These vascular structures contain distinct lumens that are formed by the fusion of ECFC intracellular vacuoles in a process of vascular morphogenesis. The process of vascular network formation is dependent on the presence of MSCs, which differentiate into perivascular cells occupying abluminal positions within the network. Importantly, it is shown that implantation of cell-laden GelMA hydrogels into immunodeficient mice results in a rapid formation of functional anastomoses between the bioengineered human vascular network and the mouse vasculature. Furthermore, it is shown that the degree of methacrylation of the GelMA can be used to modulate the cellular behavior and the extent of vascular network formation both in vitro and in vivo. These data suggest that GelMA hydrogels can be used for biomedical applications that require the formation of microvascular networks, including the development of complex engineered tissues.

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Abstract: Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We identified four heterozygous de novo mutations of HRAS in 12 of 13 affected individuals, all of which were previously reported as somatic and oncogenic mutations in various tumors. Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors.

Iron deficiency and cognitive achievement among school-aged children and adolescents in the United States.

Abstract: Context. Iron deficiency anemia in in- fants can cause developmental problems. However, the relationship between iron status and cognitive achieve- ment in older children is less clear. Objective. To investigate the relationship between iron deficiency and cognitive test scores among a nation- ally representative sample of school-aged children and adolescents. Design. The National Health and Nutrition Examina- tion Survey III 1988 -1994 provides cross-sectional data for children 6 to 16 years old and contains measures of iron status including transferrin saturation, free erythro- cyte protoporphyrin, and serum ferritin. Children were considered iron-deficient if any 2 of these values were abnormal for age and gender, and standard hemoglobin values were used to detect anemia. Scores from standard- ized tests were compared for children with normal iron status, iron deficiency without anemia, and iron defi- ciency with anemia. Logistic regression was used to es- timate the association of iron status and below average test scores, controlling for confounding factors. Results. Among the 5398 children in the sample, 3% were iron-deficient. The prevalence of iron deficiency was highest among adolescent girls (8.7%). Average math scores were lower for children with iron deficiency with and without anemia, compared with children with nor- mal iron status (86.4 and 87.4 vs 93.7). By logistic regres- sion, children with iron deficiency had greater than twice the risk of scoring below average in math than did chil- dren with normal iron status (odds ratio: 2.3; 95% confi- dence interval: 1.1- 4.4). This elevated risk was present even for iron-deficient children without anemia (odds ratio: 2.4; 95% confidence interval: 1.1-5.2). Conclusions. We demonstrated lower standardized math scores among iron-deficient school-aged children and adolescents, including those with iron deficiency without anemia. Screening for iron deficiency without anemia may be warranted for children at risk. Pediatrics 2001;107:1381-1386; iron deficiency, anemia, cognition, math, children, adolescence.