Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature [0.03%]
半乳糖磷酸异构酶缺陷型糖基化障碍患者免疫功能缺陷的岩藻糖治疗：病例报告及文献复习
Diederik De Graef,Jehan Mousa,Marta Biderman Waberski et al.
Diederik De Graef et al.
Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We rep...
Sunil V Jagtap,Shubham S Jagtap,Rashmi Gudur et al.
Sunil V Jagtap et al.
Primary malignant mixed Müllerian tumor (MMMT) of the ovary is an extremely uncommon neoplasm. These tumors show very aggressive clinical course and high mortality as compared to epithelial ovarian neoplasms. The objective of present study...
Clinical evidence of interventions assessed in Friedreich ataxia: a systematic review [0.03%]
腓士_mac256德共济病临床干预研究的系统评价
Paridhi Jain,Lohit Badgujar,Jelle Spoorendonk et al.
Paridhi Jain et al.
Objectives: The rare inherited autosomal recessive disease Friedreich ataxia (FA) causes progressive neurodegenerative changes and disability in patients. A systematic literature review (SLR) was carried out to understand...
Pharmacology update: pamidronate for hypertrophic pulmonary osteoarthropathy in palliative care [0.03%]
姑息治疗中的骨代谢异常的药理更新：帕米膦酸钠治疗肺肥大性骨关节病
Bethany Faust,Aaron Parkinson,Steven J Baumrucker
Bethany Faust
Hypertrophic pulmonary osteoarthropathy (HPOA) is a rare syndrome that causes clubbed fingers, periostitis, and synovial effusions. It can adversely impact a patient's quality of life. It occurs secondary to pulmonary disease - most commonl...
Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care [0.03%]
种族差异对结节性硬化症皮肤表现的影响及对诊断和治疗的潜在影响
Ashley J Pounders,Gabrielle V Rushing,Sonal Mahida et al.
Ashley J Pounders et al.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder of non-malignant tumor growths throughout major organ systems and neurological, neuropsychiatric, renal, and pulmonary co-morbi...
Congenital disorder of glycosylation - one size does not fit all: a parent's perspective [0.03%]
糖基化障碍先天性疾病：没有一种尺寸适合所有患者——一位家长的视角
Konstantin Feinberg
Konstantin Feinberg
This article is written by the parent of a child living with PMM2-congenital disorder of glycosylation (abbreviated to PMM2-CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect o...
Zachary J Kramer,Carrin Brandt,Kathryn Havens et al.
Zachary J Kramer et al.
Recent developments in technology and exigencies of the COVID-19 pandemic have spurred innovations for telehealth in patients with rare epilepsies. This review details the many ways telehealth may be used in the diagnosis and management of ...
'Granulomatosis with polyangiitis after Pfizer vaccination': a case report [0.03%]
帕菲泽疫苗接种后的肉芽肿性多血管炎的一例报告
Francis Essien,Jordan Evans,Andrew Kyle et al.
Francis Essien et al.
The advent of COVID-19, caused by the SARS-CoV-2 virus, has resulted in over 541 million cases with 6.32 million deaths worldwide as of June 2022. The devastating consequences of this global pandemic resulted in the expedited generation of ...
Alexander Y Kim,Hilary Vernon,Ryan Manuel et al.
Alexander Y Kim et al.
Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality o...
End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature [0.03%]
Sjögren-Larsson综合征终末期结晶样黄斑变性及视网膜萎缩1例报告及文献复习
Lester H Lambert,Noreen Shaikh,Jeffrey L Marx et al.
Lester H Lambert et al.
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). Universal signs of the c...