0000000000374048

AUTHOR

M Gardner

showing 2 related works from this author

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

2014

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neur…

Central nervous systemNeuroimagingNeuropsychological TestsPharmacologyBioinformaticsSettore MED/03 - GENETICA MEDICACiliopathiesCohort Studies03 medical and health sciences0302 clinical medicineNeuroimagingCentral Nervous System DiseasesmedicineHumansGenetics(clinical)Pharmacology (medical)Orofaciodigital type 1Ciliopathies; Neurodevelopmental phenotype; Neuroimaging; OFD1; Central Nervous System Diseases; Cohort Studies; Female; Humans; Magnetic Resonance Imaging; Mutation; Neuropsychological Tests; Orofaciodigital Syndromes; Medicine (all); Genetics (clinical); Pharmacology (medical)Agenesis of the corpus callosumGenetics (clinical)030304 developmental biologyMedicine(all)0303 health sciencesbusiness.industryMedicine (all)ResearchCiliumNeuropsychologyCognitionGeneral MedicineOrofaciodigital Syndromesmedicine.diseasecentral nervous systemMagnetic Resonance ImagingPorencephalyCiliopathies3. Good healthmedicine.anatomical_structureMutationFemaleNeurodevelopmental phenotypeOFD1business030217 neurology & neurosurgeryOrphanet Journal of Rare Diseases
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Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic

2021

Association of Surgeons in Training Surgical Summit, online, 17 Oct 2020 - 17 Oct 2020 2021 Virtual Annual Meeting / Surgical Research Society, online, 24 Mar 2021 - 25 Mar 2021, National Research Collaborative Meeting, online, 10 Dec 2020 - 10 Dec 2020, Royal Australasian College of Surgeons Annual Academic Surgery Conference, online, 5 Nov 2020 - 5 Nov 2020; The British journal of surgery : BJS 108(12), 1448-1464 (2021). doi:10.1093/bjs/znab336

MaleRespiration Artificial/statistics & numerical dataSettore MED/18 - CHIRURGIA GENERALEeducation-Sciences du Vivant [q-bio]/Médecine humaine et pathologieAbdominal NeoplasmPostoperative Complications/mortalityNOsurgeryCohort Studies03 medical and health sciencesCOVID-19; death; SARS-CoV-2; surgery0302 clinical medicinePostoperative ComplicationsdeathHumans030212 general & internal medicinePandemicsAbdominal Neoplasms/surgeryAgedLS7_4COVID-19/mortalityRespiratory Distress SyndromePandemicSARS-CoV-2Respirationsurgical procedures operativemortalitysurgery specialtypandemicspulmonary complicationssars-cov-2covid-19coronavirus pandemicCOVID-19Middle Aged3126 Surgery anesthesiology intensive care radiologyRespiration Artificialsurgical proceduresoperativemortalitysurgery specialtypandemicspulmonary complicationssars-cov-2covid-19coronavirus pandemicAbdominal Neoplasms; Aged; COVID-19; Cohort Studies; Female; Humans; Male; Middle Aged; Pandemics; Postoperative Complications; Respiration Artificial; Respiratory Distress Syndrome; Elective Surgical ProceduresElective Surgical Procedures030220 oncology & carcinogenesisAbdominal NeoplasmsArtificialFemalePostoperative ComplicationCohort Studie[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyRespiratory Distress Syndrome/mortalityHuman
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