Orphanet J Rare Dis
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Orphanet J Rare Dis · Aug 2021
Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics.
The threat and experience of pandemics occur differently for different groups. The rare disease population is at particular risk of being further marginalised during pandemics. In this study, our objective was to assess the hospital mortality patterns in the rare disease and the general populations during the coronavirus disease of 2019 (COVID-19) and severe acute respiratory syndrome (SARS) pandemics in Hong Kong. ⋯ This population-based study demonstrated the differential impacts of the COVID-19 and SARS pandemics on the rare disease population. In the era of budget and resource scarcity, this study warrants cautious healthcare planning, with consideration of the rare disease population in healthcare prioritisation.
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Orphanet J Rare Dis · Jun 2021
68Ga-NOTA-Evans Blue PET/CT findings in lymphangioleiomyomatosis compared with 99mTC-ASC lymphoscintigraphy: a prospective study.
Lymphangioleiomyomatosis (LAM) is a rare multisystem disease characterized by cystic lung disease and extrapulmonary manifestations, including lymphatic system disorder. The objective of this study was to investigate the findings of 68Ga-NOTA-Evans Blue (NEB) PET/CT in LAM and compare it with that of 99mTc-ASC lymphoscintigraphy. ⋯ 68Ga-NEB PET/CT visualized pulmonary lymphatic abnormality and displayed extrapulmonary lymphatic system disorders of LAM, and might play a role in the diagnosis and evaluation of the disease. 68Ga-NEB PET/CT is advantageous over conventional 99mTc-ASC lymphoscintigraphy in LAM by providing more detailed information of lymphatic dysfunction.
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Orphanet J Rare Dis · Jun 2021
Case Reports Observational StudyUltrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study.
This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis. ⋯ Real-time ultrasound-guided lumbar puncture is an effective and radiation-free technique to administer intrathecal nusinersen in SMA patients with severe scoliosis when done by practitioners with expertise in this procedure.
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Orphanet J Rare Dis · Apr 2021
Opioid-free anesthesia for patients with joint hypermobility syndrome undergoing craneo-cervical fixation: a case-series study focused on anti-hyperalgesic approach.
Patients with Ehlers-Danlos Syndrome/Hypermobility Type (EDS-HT/JHS) and Craneo-Cervical Instability frequently suffer from severe widespread pain which is difficult to control. Chronic neuroinflammation, opioid-induced hyperalgesia, and central sensitization may explain this painful condition. The aim of this study was to determine if opioid-free anesthesia plus the postoperative administration of lidocaine, ketamine and dexmedetomidine can reduce postoperative pain and the need of methadone rescues in comparison with opioid-based management in these patients undergoing Craneo-Cervical Fixation (CCF). The secondary aim was to assess the needs of opioids at hospital-discharge, incidence of gastrointestinal complications and the requirement of anxiolytic. ⋯ OFA-plus management for patients undergoing CCF with EDS-HT/JHS shows significant reduction in postoperative pain and at hospital-discharge compared with opioid-based anesthesia. OFA-plus management decreases the total doses of methadone rescues, reduces anxiolytic requirements and gastrointestinal side-effects, except for constipation. OFA-plus management is a feasible option to improve postoperative pain control, reducing the opioids' use and their postoperative side-effects in patients undergoing CCF with EDS-HT/JHS.
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Orphanet J Rare Dis · Jan 2021
ReviewSystematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.
Spinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcare decision-making, this review summarizes the studies assessing the cost of SMA and economic evaluations of treatments. A systematic review of the literature in PubMed and Scopus up to 15 September 2020 was conducted according to PRISMA guidelines. ⋯ This review confirms the substantial cost burden of standard of care for SMA patients and the high cost-effectiveness ratios of the approved drugs at the current price when delivered in post-symptomatic patients. Since few studies have been conducted so far, there is a need for further prospective and independent economic studies in pre- and post-symptomatic patients.