Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosus [0.03%]
卡那奴单抗治疗难治性系统性红斑狼疮反复发热和蛋白尿的个案报告
Kimia Yavari,Joseph Grisanti
Kimia Yavari
Systemic lupus erythematosus (SLE) is a chronic multiorgan autoimmune disease with a wide range of clinical manifestations and a characteristic renal involvement leading to proteinuria. There remains an unmet need in SLE disease management ...
Toward representative genomic research: the children's rare disease cohorts experience [0.03%]
迈向具有代表性的基因组研究：儿童罕见病队列的经验
Zoë J Frazier,Eurnestine Brown,Shira Rockowitz et al.
Zoë J Frazier et al.
Background: Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such dispariti...
Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey [0.03%]
促进嗜酸细胞性胃肠疾病研究中的多样性、公平性、包容性和可及性：嗜酸细胞性胃肠疾病研究联盟的历程
Mirna Chehade,Glenn Furuta,Amy Klion et al.
Mirna Chehade et al.
In response to the social inequities that exist in health care, the NIH-funded Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) recently formed a diversity committee to examine systemic racism and implicit bias in the...
A multidisciplinary approach to treating a unique case of recurrent metastatic thymic carcinoma: case report [0.03%]
复发性转移性胸腺癌独特病例的综合治疗：个案报告
Carol Wang,David Erick Elkowitz,Michael John Esposito et al.
Carol Wang et al.
Thymic carcinoma (TC) is a rare and aggressive malignancy of the thymus associated with less than 25% 5 years survivability. Our case report showcases the successful treatment of advanced metastatic TC using a multidisciplinary approach and...
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies [0.03%]
罕见病研究IRDiRC工作组：吸引企业参与罕见病研究的羽化阶段任务小组
Katherine L Beaverson,Daria Julkowska,Mary Catherine V Letinturier et al.
Katherine L Beaverson et al.
Background: The International Rare Diseases Research Consortium (IRDiRC) is an international initiative that aims to use research to facilitate rapid diagnosis and treatment of rare diseases. ...
Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review [0.03%]
Persistent Mullerian管综合症罕见表现的手术切除治疗：病例分析回顾
Iwens Moreira de Faria,Augusto Machado de Souza,Luiz Rodrigues Pereira Júnior et al.
Iwens Moreira de Faria et al.
Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint....
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...