Novel therapeutics in nystagmus: what has the genetics taught us so far? [0.03%]
遗传学教会了我们什么新的治疗方法来治疗眼球震颤？
Jay E Self,Helena Lee
Jay E Self
Nystagmus is a disorder characterised by uncontrolled, repetitive, to-and-fro movement of the eyes. It can occur as a seemingly isolated disorder but is most commonly the first, or most obvious, feature in a host of ophthalmic and systemic ...
Wing Sum Vincent Ng,Matthieu Trigano,Thomas Freeman et al.
Wing Sum Vincent Ng et al.
Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). Their clinical features...
Sally Hayes,Siân R Morgan,Keith M Meek
Sally Hayes
Keratoconus is a condition in which the cornea progressively thins and weakens, leading to severe, irregular astigmatism and a significant reduction in quality of life. Although the precise cause of keratoconus is still not known, biochemic...
Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study [0.03%]
色素沉着以外的肝保护迹象：一项有关 afamelanotide 治疗瑞士患者的观察性研究
Anna-Elisabeth Minder,Jasmin Barman-Aksoezen,Mathias Schmid et al.
Anna-Elisabeth Minder et al.
Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. This excess protoporphyrin leads to incapacitating phototoxic burns in sunlight exposed skin. Its bil...
Etranacogene dezaparvovec for hemophilia B gene therapy [0.03%]
治疗乙型血友病的基因疗法药物Etranacogene dezaparvovec
Courtney D Thornburg
Courtney D Thornburg
The treatment landscape for hemophilia has been rapidly changing with introduction of novel therapies. Gene therapy for hemophilia is a promising therapeutic option for sustained endogenous factor production to mitigate the need for prophyl...
Haseeb Akram,Jose Antonio Aragon-Martin,Aman Chandra
Haseeb Akram
Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and subsequent diagnosis begins in the ophthalmology clinic. Importantly, t...
IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland [0.03%]
IMPACT研究：测量照护对爱尔兰黏多糖贮积症儿童和成人及其家庭和医疗专业人员的影响
Suja Somanadhan,Hannah Bristow,Ellen Crushell et al.
Suja Somanadhan et al.
Introduction: Disease trajectories are often uncertain among individuals living with mucopolysaccharidoses (MPS) due to the progressive nature of the illness and the goal of care. This study investigated the impact on car...
Understanding the perspective of patients with pulmonary arterial hypertension: looking beyond health-related quality of life [0.03%]
理解肺动脉高压患者的视角：超越与健康相关的生活质量
Aldo Aguirre-Camacho
Aldo Aguirre-Camacho
They've been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients' current symptoms, unmet needs and healthcare expectations [0.03%]
她们被出卖了：关于机构和提供者背叛行为的报道与艾勒斯-丹洛斯综合症患者目前的症状、需求未被满足及对医疗保健期望之间的关联性报告
Jennifer Langhinrichsen-Rohling,Chrystal L Lewis,Sean McCabe et al.
Jennifer Langhinrichsen-Rohling et al.
Introduction: Patients with rare and/or care-intensive conditions, such as Ehlers-Danlos Syndrome (EDS), can pose challenges to their healthcare providers (HCPs). The current study used the BITTEN framework1 to code EDS p...
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series [0.03%]
PGM1-CDG病例系列的新型研究见解及其长期D-半乳糖治疗的表型反应
Silvia Radenkovic,Christin Johnsen,Andreas Schulze et al.
Silvia Radenkovic et al.
Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic present...