ABSTRACT
"The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach" was held at the Renaissance Orlando at SeaWorld Hotel (August 2-4, 2013). Seventy-one physicians and scientists attended the meeting, and parallel meetings were held by patient advocacy groups (CFC International, Costello Syndrome Family Network, NF Network and Noonan Syndrome Foundation). Parent and patient advocates opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes, to identification of therapeutic targets in the RAS/MAPK pathway, to preclinical drug development and testing, to clinical trials. These proceedings will review the major points of discussion.
Subject(s)
Genetic Diseases, Inborn/genetics , MAP Kinase Signaling System , ras Proteins/metabolism , Genetic Diseases, Inborn/metabolism , HumansABSTRACT
Microdeletion of 17q21.31 causes a recurrent recognizable dysmorphic syndrome. A further four patients with 17q21.31 microdeletions are reported here in whom an earlier diagnosis of cardio-facio-cutaneous syndrome was suggested. These patients have significant similarities of facial gestalt to earlier reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasized previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, were what had led to the earlier diagnostic suggestion of cardio-facio-cutaneous syndrome in each of these four cases.
Subject(s)
Skin/pathology , Adolescent , Adult , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 17/genetics , Diagnosis, Differential , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive/diagnosis , Failure to Thrive/genetics , Female , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Humans , Infant, Newborn , Male , Smith-Magenis Syndrome , Young AdultABSTRACT
OBJECTIVE: To determine how patients with breast cancer want their doctors to communicate with them. DESIGN: Qualitative study. SETTING: Breast unit and patients' homes. PARTICIPANTS: 39 women with breast cancer. MAIN OUTCOME MEASURE: Patients' reports of doctors' characteristics or behaviour that they valued or deprecated. RESULTS: Patients were not primarily concerned with doctors' communication skills. Instead they emphasised doctors' enduring characteristics. Specifically, they valued doctors whom they believed were technically expert, had formed individual relationships with them, and respected them. They therefore valued forms of communication that are currently not emphasised in training and research and did not intrinsically value others that are currently thought important, including provision of information and choice. CONCLUSIONS: Women with breast cancer seek to regard their doctors as attachment figures who will care for them. They seek communication that does not compromise this view and that enhances confidence that they are cared for. Testing and elaborating our analysis will help to focus communication research and teaching on what patients need rather than on what professionals think they need.
