Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 3 de 3
Filter
Add more filters










Database
Language
Publication year range
1.
Am J Med Genet A ; 179(9): 1725-1744, 2019 09.
Article in English | MEDLINE | ID: mdl-31222966

ABSTRACT

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.


Subject(s)
Abnormalities, Multiple/genetics , Costello Syndrome/genetics , Heart/physiopathology , Proto-Oncogene Proteins p21(ras)/genetics , Abnormalities, Multiple/physiopathology , Costello Syndrome/physiopathology , Costello Syndrome/therapy , Developmental Disabilities/genetics , Developmental Disabilities/physiopathology , Disease Management , Face/abnormalities , Gene Expression Regulation/genetics , Genotype , Germ-Line Mutation/genetics , Guidelines as Topic , Heart Defects, Congenital/genetics , Heart Defects, Congenital/physiopathology , Humans , Phenotype
2.
Public Health Rep ; 123(4): 461-73, 2008.
Article in English | MEDLINE | ID: mdl-18763408

ABSTRACT

The Washington metropolitan area was closely examined to understand how these regional preparedness structures have been organized, implemented, and governed, as well as to assess the likely impact of such regional structures on public health preparedness and public health systems more generally. It was found that no single formal regional structure for the public health system exists in the Washington metropolitan area, although the region is designated by the Department of Homeland Security as the National Capital Region (NCR). In fact, the vast majority of preparedness planning and response activities in this area are the result of voluntary self-organization through both governmental and nongovernmental organizations. Some interviewed felt that this was an optimal arrangement, as personal relationships prove crucial in responding to a public health emergency and an informal response is often more timely than a formal response. The biggest challenge for public health preparedness in the NCR is incorporating all federal government agencies in the area in NCR preparedness planning.


Subject(s)
Disaster Planning/organization & administration , Public Health Administration , Regional Health Planning/organization & administration , Communicable Disease Control/organization & administration , Demography , Disaster Planning/economics , Disaster Planning/methods , District of Columbia , Efficiency, Organizational , Interviews as Topic , Organizational Case Studies , Public Health Administration/economics , Regional Health Planning/economics
3.
Psychiatr Serv ; 58(10): 1339-43, 2007 Oct.
Article in English | MEDLINE | ID: mdl-17914012

ABSTRACT

OBJECTIVE: After the displacement of students following Hurricanes Katrina and Rita, schools in several states enrolled many students with potential mental health needs. This study sought to understand how schools perceived the mental health needs of these students and what mental health programs they implemented. METHODS: Mental health personnel at 19 public schools or school systems and 11 private or parochial schools in Louisiana, Alabama, Texas, and Mississippi were interviewed at two time points (spring and fall-winter of 2006). RESULTS: Schools undertook diverse approaches to interventions, depending on the preexisting mental health infrastructure and personnel, the perceived needs of students, and the barriers or facilitators in each system. Interviewees described a rapid and comprehensive approach to the crisis in the immediate aftermath. Shortly afterward, some schools perceived little need for mental health services and refocused on their academic missions. Other school systems perceived student need but were unable to implement trauma-focused programs because staff were not prepared to deliver such services and funding was lacking. However, some systems and schools were able to implement new programs or extend programs to displaced students. Implementation challenges included difficulty communicating with parents, burnout among staff and program implementers, and efforts to balance the needs of the displaced students with those of the preexisting student population. CONCLUSIONS: Despite significant efforts to support students affected by the hurricanes, schools were limited in their ability to implement disaster-focused programs. Extension of crisis plans to include precrisis training in mental health programming for students and staff who have ongoing difficulties after a disaster or crisis may be beneficial.


Subject(s)
Disasters , Mental Health , School Health Services/organization & administration , Adolescent , Child , Health Services Needs and Demand , Humans , Interviews as Topic , Psychology, Adolescent , Psychology, Child , United States
SELECTION OF CITATIONS
SEARCH DETAIL
...