rare diseases – Page 3 – Communicable Diseases Research

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Research

Published on 2021-09-082022-10-29
Journal: Orphanet Journal of Rare Diseases [Category] COVID-19, SARS,

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

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

Article

Published on 2021-09-062022-10-31
Journal: Children [Category] COVID-19,

Is It Possible to Have Home E-Monitoring of Pulmonary Function in Our Patients with Duchenne Muscular Dystrophy in the COVID-19 Pandemic?—A One Center Pilot Study

Observational Study

Published on 2021-08-262022-10-04
Journal: International Journal of Environmental Research an [Category] MERS, SARS, 임상,

[키워드] age AioCare Anthropometric data applied asked benefit BMI Care center clinical collected conducted COVID-19 COVID-19 pandemic Digital health disease DMD Duchenne muscular dystrophy duration of life e-monitoring of pulmonary function enrolled European evaluated expiratory function FVC Germany Health home home monitoring home monitoring pulmonary function hospital introduced lack Lung function material mean value medical history MONITOR muscular no significant difference Patient performed Poland preserved professional Prospective Study protocol pulmonary Pulmonary function Pulmonary function test rare diseases reason recruited respiratory Satisfaction seeking SMS Society spirometry Support the mean the patient university Volume was performed
[DOI] 10.3390/ijerph18178967 PMC 바로가기 [Article Type] Observational Study

Chronic and rare disease patients’ access to healthcare services during a health crisis: The example of the COVID‐19 pandemic in Turkey

Original Article

Published on 2021-07-262022-11-01
Journal: Health Expectations : An International Journal of Public Participation in Health Care and Health Policy [Category] COVID-19, MERS, SARS,

[키워드] access alleviate Analysis Anxiety approach caused chronic clinical information complex conducted coronavirus disease Coverage COVID‐19 COVID‐19 patients COVID‐19 decision‐making processe exacerbating example facilitate Factor Health healthcare access Healthcare provision healthcare service hospital IMPROVE Inclusion institution introduced İstanbul lack measure objective pandemic participated Patient Patient experiences patient organisations patients physical Physicians positive problem problems Public Qualitative rare disease rare diseases reduce Regulation response Result security Treatment Turkey
[DOI] 10.1111/hex.13321 PMC 바로가기 [Article Type] Original Article

Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches

Letter to the Editor

Published on 2021-07-162022-10-29
Journal: Orphanet Journal of Rare Diseases [Category] COVID-19, SARS,

The Investigational Clinical Center: a clinical-supportive and patient-centered trial unit model. Ten years of experience through normal and pandemic times of a large pediatric trial center in Italy

Investigational Clinical Center: 임상 지원 및 환자 중심 시험 단위 모델. 이탈리아의 대규모 소아 임상 센터에서 정상 및 유행성 시기에 걸친 10년의 경험

Letter to the Editor

Published on 2021-07-132022-09-10
Journal: Italian Journal of Pediatrics [Category] SARS, 임상,

[키워드] activities affected best center children clinical Clinical management Clinical research clinical trial Clinical trial unit clinical trials clinician Complete complexity Compliance conducted COVID-19 pandemic Efficacy and safety engage enrolled evaluated Evidence-based medicine feature Good Good Clinical Practice helping ICC implementation include investigator investigators Italy legal guardian majority management Metrics off-label offer overcome pandemic parent parents Patient pediatric Pediatric clinical research pediatrics pharmacological Practice principal investigator Principal Investigators rare diseases recruitment reported Research Research staff Rome supplementary material Support Treatment Trial Trial implementation Trial management unit
[DOI] 10.1186/s13052-021-01099-0 PMC 바로가기 [Article Type] Letter to the Editor

PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic

Research

Published on 2021-05-012022-10-29
Journal: Orphanet Journal of Rare Diseases [Category] COVID-19, SARS,

[키워드] activities Care chronic thromboembolic pulmonary hypertension conducted consequence country COVID COVID-19 COVID-19 incidence COVID-19 pandemic Depression Deterioration Diagnosis diagnosis of COVID-19 early phase evaluate event Evolution Follow-up Health Health care system Health status Hospitalization information International medication mental health occurred pandemic Participants participated Patient Patient survey problem progressed pulmonary arterial hypertension pulmonary hypertension question rare diseases reported Responder Result resulting supplementary material the patient thromboembolic Treatment
[DOI] 10.1186/s13023-021-01752-1 PMC 바로가기 [Article Type] Research

Research and Management of Rare Diseases in the COVID-19 Pandemic Era: Challenges and Countermeasures

Public Health

Published on 2021-04-152022-10-31
Journal: Frontiers in Public Health [Category] COVID-19, MERS, SARS,

Drug development post COVID-19 pandemic: toward a better system to meet current and future global health challenges

COVID-19 팬데믹 이후의 약물 개발: 현재 및 미래의 글로벌 건강 문제를 해결하기 위한 더 나은 시스템으로

Article

Published on 2021-04-012022-08-31
Journal: Expert opinion on drug discovery [Category] MERS, SARS, 신약개발,