2025
Syndromic epidermal differentiation disorders: New classification towards pathogenesis-based therapy
Paller A, Teng J, Mazereeuw-Hautier J, Hernández-Martín Á, Tournier C, Hovnanian A, Aldwin-Easton M, Tadini G, Janice S, Sprecher E, Malovitski K, Ishida-Yamamoto A, Choate K, Akiyama M, O’Toole E, Fischer J, Bodemer C, Gostynski A, Schmuth M. Syndromic epidermal differentiation disorders: New classification towards pathogenesis-based therapy. British Journal Of Dermatology 2025, ljaf123. PMID: 40184496, DOI: 10.1093/bjd/ljaf123.Peer-Reviewed Original ResearchPathogenesis-based therapiesDisease pathogenesisInitiation of therapyGene-based diagnosisVariable clinical featuresMechanisms of disease pathogenesisDisease natural historySkin involvementSystemic treatmentExtracutaneous manifestationsExtracutaneous featuresGene alterationsPathway end productsSkin manifestationsGenetic counselingGenotype-phenotype relationshipsCutaneous diseaseKallikrein inhibitorHair abnormalitiesDifferentiation disordersFrequent associationNatural historyUpstream inhibitionDiscussion of prognosisTherapy
2018
Progression from latent infection to active disease in dynamic tuberculosis transmission models: a systematic review of the validity of modelling assumptions
Menzies NA, Wolf E, Connors D, Bellerose M, Sbarra AN, Cohen T, Hill AN, Yaesoubi R, Galer K, White PJ, Abubakar I, Salomon JA. Progression from latent infection to active disease in dynamic tuberculosis transmission models: a systematic review of the validity of modelling assumptions. The Lancet Infectious Diseases 2018, 18: e228-e238. PMID: 29653698, PMCID: PMC6070419, DOI: 10.1016/s1473-3099(18)30134-8.Peer-Reviewed Original ResearchConceptsTuberculosis transmission modelActive diseaseCumulative incidenceRisk factorsSystematic reviewNatural historyFeatures of epidemiologyDisease natural historyIndividual risk factorsTuberculosis natural historyEarliest available dateWeb of ScienceAnnual incidenceCochrane LibraryTuberculosis incidenceInclusion criteriaFuture tuberculosisLatent infectionInitial infectionIncidenceSubstantial proportionPopulation groupsAvailable dateInfectionDisease
2015
Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress
Koutsoulidou A, Kyriakides TC, Papadimas GK, Christou Y, Kararizou E, Papanicolaou EZ, Phylactou LA. Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress. PLOS ONE 2015, 10: e0125341. PMID: 25915631, PMCID: PMC4411125, DOI: 10.1371/journal.pone.0125341.Peer-Reviewed Original ResearchConceptsDM1 patientsMuscle-specific miRNAsMuscle wastingNatural historySensitive blood biomarkersPotential future therapiesDisease natural historyMyotonic dystrophy patientsAdult-onset muscular dystrophyMyotonic dystrophy type 1Useful molecular biomarkersParticipant seraSerum levelsMuscle weaknessBlood biomarkersClinical conditionsMuscle atrophyFuture therapiesPatientsPotential biomarkersDystrophy patientsMiR-133aType 1Progressive muscleMolecular biomarkers
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