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1.
J Cutan Med Surg ; 18(1): 20-7, 2014.
Article in English | MEDLINE | ID: mdl-24377469

ABSTRACT

BACKGROUND: A limited number of published studies have discussed patient attitudes toward resident physicians' participation in dermatology clinics. A literature search failed to identify any such study in the Middle East. OBJECTIVE: The aim of this study was to explore patient perceptions and attitudes toward resident participation in dermatology outpatient clinics. METHODS: A self-administered questionnaire focused on patient attitudes toward dermatology resident participation was distributed randomly to all adult outpatients attending dermatology clinics at a university hospital in Saudi Arabia between July and September 2010. RESULTS: The questionnaire was returned by 742 of 900 patients, for an 82% response rate. The mean patient age was 30.58 ± 11.67 years. Forty-two percent (311 of 742) of the respondents were male. The major reason for visiting the hospital was a medical dermatology consultation (80.4%). Only 35% of the patients self-reported an accurate understanding of the "resident" designation. In total, 86.4% of patients were satisfied with the residents' behavior. Furthermore, 98.4% of the patients were satisfied with the medical care provided by the residents. The patients agreed with resident participation in their health care. The majority of the patients expressed their willingness to provide a medical history and receive counseling from residents (87.6% and 86.3%, respectively). There was no gender-associated effect on the understanding of the resident position or the decision to receive a physical examination by a resident. CONCLUSION: Dermatology outpatients are satisfied and have positive perceptions and attitudes toward resident participation in the dermatology clinic.


Subject(s)
Dermatology/education , Dermatology/methods , Education, Medical , Internship and Residency , Outpatients/psychology , Patient Acceptance of Health Care , Patient Satisfaction , Adult , Biopsy , Female , Humans , Male , Physical Examination , Physicians , Saudi Arabia , Surveys and Questionnaires
2.
BMC Med Genet ; 12: 31, 2011 Feb 24.
Article in English | MEDLINE | ID: mdl-21349189

ABSTRACT

BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families. METHODS: Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the fullECM1 gene. RESULTS: All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of ECM1 gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8. CONCLUSIONS: These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about ECM1 function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.


Subject(s)
Extracellular Matrix Proteins/genetics , Lipoid Proteinosis of Urbach and Wiethe/genetics , Mutation , Adolescent , Amino Acid Substitution , Base Sequence , Brain/pathology , Child , Child, Preschool , Consanguinity , DNA Mutational Analysis , Female , Humans , Intellectual Disability/genetics , Lipoid Proteinosis of Urbach and Wiethe/pathology , Lipoid Proteinosis of Urbach and Wiethe/physiopathology , Lipoid Proteinosis of Urbach and Wiethe/psychology , Male , Mutation, Missense , Pedigree , Saudi Arabia , Sequence Deletion , Young Adult
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