Search results for "Scalp Dermatoses"

showing 2 items of 2 documents

A survey on knowledge and perceptions regarding head lice on a sample of teachers and students in primary schools of north and south of Italy.

2009

High rates of pediculosis are found in every part of the world. The age-range most affected is between 3 and 12 years. No-nit policies are ineffective in preventing infestations. On the other hand, misdiagnosis and overuse of pediculicides, increase resistance to treatment. Lack of information leads people to consider this kind of infestation to be associated to low social classes and immigrants. This research has been implemented to find out about the information level on pediculosis on a sample of students (722) and teachers (408) of some primary schools in northern and southern Italy, and to highlight the role of personal aspects such as age, gender, cultural level, geographical position…

AdultMaleHealth Knowledge Attitudes PracticeSchoolsGeographyeducationCulturePediculusPediculosis head lice infestation Health Education Primary SchoolLice InfestationsMiddle AgedSettore MED/42 - Igiene Generale E ApplicataFacultyItalyScalp DermatosesSocial PerceptionSocioeconomic FactorsSurveys and QuestionnairesAnimalsHumansFemalePublic HealthChildStudentsHealth EducationJournal of preventive medicine and hygiene
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Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies

2015

Background— Adams–Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Methods and Results— Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregat…

MaleModels MolecularProbandreceptorGene ExpressionHaploinsufficiencyNOTCH1Ectodermal DysplasiaMissense mutationExomeReceptor Notch1ChildExomeGenetics (clinical)GeneticsReverse Transcriptase Polymerase Chain ReactionAutosomal dominant traitMiddle AgedPedigreeembryonic structuresheart defectscardiovascular systemFemaleCardiology and Cardiovascular MedicineHaploinsufficiencySignal TransductionAdultHeart Defects CongenitalAdolescentLimb Deformities CongenitalNotch signaling pathwayBiologyArticleYoung AdultAdams-Oliver syndromeGeneticsmedicineHumansGenetic Predisposition to DiseaseGeneFamily HealthBase SequencecongenitalAdams-Oliver syndrome; genetics; haploinsufficiency; heart defects; congenital; receptor; NOTCH1; Cardiology and Cardiovascular Medicine; Genetics (clinical); GeneticsSequence Analysis DNAmedicine.diseaseProtein Structure TertiaryScalp DermatosesHuman medicineAdams–Oliver syndromeCirculation. Cardiovascular genetics
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