Hereditary – Communicable Diseases Research

Increased Number of Colorectal Interval Cancers in Lynch Syndrome after the SARS-CoV-2 Pandemic: A Survey-Based Study

Article

Published on 2023-01-012023-07-08
Journal: Digestive diseases (Basel, Switzerland)
[Category] COVID19(2023년),

Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia

Article

Published on 2022-11-072022-11-16
Journal: Orphanet Journal of Rare Diseases
[Category] 유전자 메커니즘,

[키워드] analysis Angiogenesis assigned Biomarkers bleeding Blood center double-blind doxycycline Effectiveness ENG Epistaxis Frequency heart failure help hemorrhage Hemorrhagic Hereditary Hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia. HHT IL-6 Inflammatory intravenous limitations Liver disease malformation marker mechanism Michael morbidity no significant difference not significantly different observation pathway Patient Placebo placebo-controlled provided Quality of life Randomized controlled trial Randomly RBC recruited Registered Registration secondary significantly higher stroke telangiectasia therapy Toronto Treatment treatment period Trial VEGF
[DOI] 10.1186/s13023-022-02539-8 PMC 바로가기

HAE patient self-sampling for biomarker establishment

바이오마커 확립을 위한 HAE 환자 자가샘플링

Research

Published on 2021-09-282022-09-10
Journal: Orphanet Journal of Rare Diseases
[Category] SARS, 바이오마커, 변종, 진단,

[키워드] activity analyzed Angioedema attack biochemically Biomarker Blood blood sample Blood samples bradykinin C1-Inhibitor cause caused cleaved Cleaved high molecular weight Kininogen clinical study coding collected Complete Contact COVID-19 COVID-19 pandemic Diagnosis diagnostic diagnostic test diagnostics Disease activity door effective enrolled finger pricking genetic disorder Germany HAE help Hereditary Hereditary angioedema high resolution Hope identify Kininogen leads Liquid chromatography mass spectrometry medication metabolite metabolites Observational clinical study opens pandemic participant pathogenic variant Patient performed presenting reduced Result Self-sampling SERPING1 Standard-of-care Study design supplementary material symptom onset the disease Treatment vascular permeability weight
[DOI] 10.1186/s13023-021-02021-x PMC 바로가기 [Article Type] Research

Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy

유전성 출혈성 모세혈관확장증 환자에서 COVID-19의 역학적 분포 및 결과의 특성화: 이탈리아의 첫 번째 물결 동안 전국적인 후향적 다기관 연구

Multicenter Study

Published on 2021-09-082022-09-12
Journal: Orphanet Journal of Rare Diseases
[Category] SARS, 진단,

[키워드] addressed adverse outcome Affect Analysis approach bleeding characterization characterized clinical condition clinical feature Clinical features co-morbidity collected Complication concerning coronavirus disease Coronavirus disease 2019 COVID-19 COVID-19 cases COVID-19 in patient COVID-19 infection cross-sectional design disease disorders distribution Epidemic epidemiological estimates evidenced Factor First wave foci Frequency General population geographical distribution Hemorrhagic Hereditary Hereditary hemorrhagic telangiectasia Hospital admission Infection infection risk intensive care Italian Italy laboratory confirmation lombardy management manifestation morbidities objective outcome outcomes overlapping pandemic PANDEMICS 2020 Patient patients Personal protective equipment Protective questionnaire rare diseases reported Result retrospective risk risk factor Risk factors SARS-COV-2 infection secondary to severe COVID-19 susceptibility telangiectasia Vascular visceral was recorded
[DOI] 10.1186/s13023-021-02000-2 PMC 바로가기 [Article Type] Multicenter Study

SARS-CoV-2 Infection in Hereditary Hemorrhagic Telangiectasia Patients Suggests Less Clinical Impact Than in the General Population

Article

Published on 2021-04-272022-10-30
Journal: Journal of Clinical Medicine
[Category] COVID-19,

Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab

HHT 환자에서 SARS-CoV-2 감염에 대한 진단 테스트: 비인두 대 구인두 면봉

Letter to the Editor

Published on 2020-12-182022-09-10
Journal: Orphanet Journal of Rare Diseases
[Category] MERS, SARS, 진단, 치료기술,

[키워드] Affect Anemia arteriovenous malformations Asymptomatic autosomal dominant Blood blood transfusions Complication consequence coronavirus disease COVID-19 COVID-19 diagnosis defined detection rate determine Diagnosis diagnostic diagnostic sensitivity diagnostic test diagnostic testing disease Epistaxis evaluate followed by global pandemic greater Hemorrhagic Hereditary Hereditary hemorrhagic telangiectasia HHT highest Hospital admission hospitalizations Infection invasive knowledge leads Lower respiratory tract lower risk Molecular assay molecular assays molecular test nasal nasal mucosa nasal packing nasopharyngeal nasopharyngeal or oropharyngeal swab Nasopharyngeal swab nosebleed Nosebleeding Novel coronavirus novel coronavirus disease occur oropharyngeal swab outbreak pandemic Patient patients polymerase chain positive real-time reverse transcriptase reference standard repeated respiratory respiratory specimen respiratory specimens reverse transcriptase Reverse transcriptase polymerase chain reaction risk RT-PCR SARS CoV SARS CoV-2 SARS CoV-2 infection SARS-CoV-2 SARS-CoV-2 diagnosis SARS-COV-2 infection SARS-CoV-2 testing sensitivity Spread Swab symptomatic carriers telangiectasia the SARS-CoV-2 visceral WHO
[DOI] 10.1186/s13023-020-01628-w PMC 바로가기 [Article Type] Letter to the Editor

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Letter to the Editor

Published on 2020-12-032022-10-29
Journal: Orphanet Journal of Rare Diseases
[Category] COVID-19, MERS, SARS,

Angiogenesis, hereditary hemorrhagic telangiectasia and COVID-19

혈관신생, 유전성 출혈성 모세혈관확장증 및 COVID-19

Case Reports

Published on 2020-10-142022-09-10
Journal: Angiogenesis
[Category] 변종, 임상,

[키워드] acute respiratory syndrome acute respiratory syndrome coronavirus-2 ACVRL1 Adult patients Angiogenesis characterized Clinical course Clinical data coronavirus disease Coronavirus disease 2019 Coronavirus disease 2019 (COVID-19) COVID-19 COVID-19 patient COVID-19 pneumonia discharged disease endothelial damage endothelial injury Epistaxis Evidence Hemorrhagic Hereditary Hereditary hemorrhagic telangiectasia investigator mechanical ventilation multicenter open pathogenic pathogenic variant pathologic Patient patients Pneumonia Prevalence provoke rare disease rare diseases registry respiratory SARS-CoV-2 Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) telangiectasia Vascular worsening
[DOI] 10.1007/s10456-020-09755-5 PMC 바로가기 [Article Type] Case Reports

Angiogenesis, hereditary hemorrhagic telangiectasia and COVID-19

Case Reports

Published on 2020-10-142022-10-27
Journal: Angiogenesis
[Category] COVID-19, Fulltext, MERS,

A randomized multicenter clinical trial to evaluate the efficacy of melatonin in the prophylaxis of SARS-CoV-2 infection in high-risk contacts (MeCOVID Trial): A structured summary of a study protocol for a randomised controlled trial

Letter

Published on 2020-06-032022-10-29
Journal: Trials
[Category] COVID-19, SARS,

[키워드] 1:1 age analogue anticipated assigned Asymptomatic blinded bpm Characteristics clinical trial comparator components Contact Controlled trial coronavirus disease COVID-19 COVID-19 symptom COVID19 Date deficiency develop Diabetes Mellitus Diagnosis disease dissemination dose double-blind drug Efficacy Efficiency eight element enrolled enrolment EU Clinical Trial evaluate evaluate the effect exclusion criteria experimental arm female participant Final Glucose haloperidol healthcare healthcare worker Healthcare workers hematological Hemodialysis hepatitis B Hereditary high risk history HIV HIV infection hospital hypersensitivity IgM/IgG immune immunosuppressive incidence Inclusion Infection Inflammatory cytokine Intervention less lymphopenia male melatonin men and women multicenter myasthenia gravis number objective outcome participant Patient PCR Placebo polymerase chain post-symptom onset Premenopausal Prevent prophylactic treatment Prophylaxis protocol Ramón randomisation randomised randomised controlled trial randomization Randomized Rapid test receiving recruited renal failure Research Retinitis rheumatoid arthritis risk RT-PCR Sample size SARS-CoV 2 SARS-CoV-2 SARS-COV-2 infection SAS version 9.4 secondary sequence Seroconversion severe COVID-19 severity of COVID-19 Sex Spain Spanish statistical status stratified study drug Study protocol symptomatic infection symptomatic SARS-CoV-2 infection Treatment Trial two-arm parallel ulcerative colitis understanding urinary pregnancy test Vasculitis website weight women
[DOI] 10.1186/s13063-020-04436-6 PMC 바로가기 [Article Type] Letter