Coexistent Sjogren’s syndrome and Birt-Hogg-Dube´ syndrome: a case report
Lin Y, Guo T, Lei C, Yang B, Yang D, Luo H, Peng H. Coexistent Sjogren’s syndrome and Birt-Hogg-Dube´ syndrome: a case report. BMC Pulmonary Medicine 2023, 23: 460. PMID: 37993820, PMCID: PMC10664354, DOI: 10.1186/s12890-023-02680-5.Peer-Reviewed Original ResearchConceptsSjogren's syndromeBirt-HoggMultiple thin-walled cystic lesionsDiffuse cystic lung diseasesThin-walled cystic lesionsShortness of breathCystic lung diseaseLabial gland biopsyDry eyeLower lungCystic changesCystic lesionsLung diseasePhysical examinationCase reportGland biopsyDube syndromeRare caseComputed tomographyDubé syndromeInsufficient evidenceSyndromeDiagnostic algorithmLungRespiratory soundsA novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease
Liu L, Luo H, Sheng Y, Kang X, Peng H, Luo H, Fan L. A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease. Hereditas 2023, 160: 37. PMID: 37978541, PMCID: PMC10656953, DOI: 10.1186/s41065-023-00299-4.Peer-Reviewed Original ResearchConceptsInterstitial lung diseaseLung diseaseAffected family membersHeterozygous mutationsChronic interstitial lung diseasePulmonary diffusion functionPulmonary lung diseaseWhole-exome sequencingTelomere structure integrityProgressive dyspneaReal-time PCRCTC1 geneGene mutationsInsidious onsetInterstitial pneumoniaGenetic lesionsMutation spectrumInterstitial tissueEpidemiological dataPatientsChinese familyTelomere shorteningDiseaseCTC1Family members