Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected! [0.03%]
出乎意料的球结膜plexiform施万细胞瘤一例报告
Mona Kenani,Rafaa Babgi,Sultan Bakri
Mona Kenani
Rare, atypical ophthalmological conditions in adults include bulbar conjunctival plexiform schwannomas, which are usually asymptomatic. Few case reports in the literature indicate the presence of orbital/conjunctival schwannomas in adult pa...
Emerging roles and opportunities for rare disease patient advocacy groups [0.03%]
罕见病患者权益维护组织的新角色和机会
Amy M Patterson,Megan O&#x;Boyle,Grace E VanNoy et al.
Amy M Patterson et al.
Background: Patient advocacy groups (PAGs) serve a vital role for rare disease patients and families by providing educational resources, support, and a sense of community. Motivated by patient need, PAGs are increasingly ...
A novel case of homozygous PAX1 mutation associated with hypoparathyroidism [0.03%]
PAX1同合子突变致特发性低钙血症伴甲状旁腺发育不全一例报告
Benjamin L Hamel,Seema Kumar,Leah Heidenreich et al.
Benjamin L Hamel et al.
The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are n...
Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases [0.03%]
利用远程医疗为Batten病和其他罕见疾病患者建立临床治疗模型
Jessica F Scherr,Charles Albright,Emily de Los Reyes
Jessica F Scherr
The COVID-19 pandemic transformed the delivery of healthcare across the world. Telehealth has emerged as the primary method for providing healthcare early in the pandemic. Patient and healthcare provider views of the effectiveness of telehe...
Wiskott-Aldrich syndrome with normal platelet volume in a low-income setting: a case report [0.03%]
低资源环境下一例血小板体积正常型威斯科特-奥尔德里奇综合征病例报告
William Frank Mawalla,Hamisa Iddy,Christine Aloyce Kindole et al.
William Frank Mawalla et al.
Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency X-linked genetic disorder. It is often featured with a clinical triad of thrombocytopenia with low mean platelet volume, eczematoid dermatitis and recurrent infections. The clinical ...
Improving patient informed consent for haemophilia gene therapy: the case for change [0.03%]
改善血友病基因治疗的患者知情同意书：变革的理由
Laurence Woollard,Richard Gorman,Dakota J Rosenfelt
Laurence Woollard
Adeno-associated virus-based gene therapy points to a coming transformation in the treatment of people living with haemophilia, promising sustained bleed control and potential improvement in quality of life. Nevertheless, the consequences o...
Tiina Urv
Tiina Urv
Philippa Harding,Dulce Lima Cunha,Mariya Moosajee
Philippa Harding
Microphthalmia is a rare developmental eye disorder affecting 1 in 7000 births. It is defined as a small (axial length ⩾2 standard deviations below the age-adjusted mean) underdeveloped eye, caused by disruption of ocular development throu...
Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review [0.03%]
溶酶体酸性脂酶缺乏症（LAL-D）中酶替代疗法的系统文献回顾
Aamir Bashir,Pramil Tiwari,Ajay Duseja
Aamir Bashir
Background: Lysosomal acid lipase deficiency (LAL-D) is a very rare genetic abnormality caused by LIPA gene mutation. The disease has two distinct clinical variants in humans: Wolman disease in infants and cholesteryl est...
Wolfram syndrome: new pathophysiological insights and therapeutic strategies [0.03%]
Wolfram综合征：新的病理生理学见解和治疗策略
Ratnakar Mishra,Benson S Chen,Prachi Richa et al.
Ratnakar Mishra et al.
Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration. Visual loss in WS is an important cause of ...