"Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1 [0.03%]
顺其自然：NF1诊断下的情感、身份及认知反应——震惊与接受之间的关系探究
Katarzyna Kowal,Jan Domaradzki
Katarzyna Kowal
Background: Neurofibromatosis type 1 (NF1) is a rare genetic condition characterised by visible symptoms, clinical uncertainty, and psychosocial complexity. The experience of diagnosis often represents a key turning point...
The role of neuroimmunology subspecialty in disease management of patients with neuromyelitis optica spectrum disorder [0.03%]
神经免疫学亚专业在 neuromyelitis optica 光谱障碍患者疾病管理中的作用
Binbin Xue,Jia Li,Dewei Xie et al.
Binbin Xue et al.
Background: Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune inflammatory disease of the central nervous system (CNS) that requires specialized management. Although the role of subspecialty management...
Clinical features, outcome and HLA subtypes in Eastern patients with anti-IgLON5 disease: a multicenter study [0.03%]
东方抗IgLON5病的临床特征、转归和HLA亚型：多中心研究
Yining Gao,Xiaobo Sun,Yifan Zhou et al.
Yining Gao et al.
Background: Anti-IgLON5 disease, a rare autoimmune neurological disorder, remains understudied in Eastern populations. This study aimed to characterize the clinical characteristics, treatment responses, and long-term outc...
In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis [0.03%]
TSC1缺乏对间充质干细胞向脂肪细胞分化影响的体外研究及对该脂肪瘤样皮脂腺瘤发病机制与治疗选择的新认识
Julika E Friedrich,Julia Hentschel,Sandy Richter et al.
Julika E Friedrich et al.
Background: Tuberous sclerosis complex (TSC) is a rare genetic neurocutaneous disorder resulting from mutations in the TSC1 or TSC2 genes, characterized by overgrowth and lesions in multiple organs. While renal angiomyoli...
The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis [0.03%]
基于OrphaNet的罕见病疾病负担估算——一项流行病学分析
Helen Louise Malherbe,Sujani Odendaal,Ana Kukava et al.
Helen Louise Malherbe et al.
Background: Rare diseases (RDs) collectively affect a significant proportion of the population, yet their burden in South Africa (SA) remains poorly defined due to limited diagnostic capacity and infrastructure, inadequat...
Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease [0.03%]
CLN3 型贝敦病患者的行为和情绪症状及生活质量研究
Beate Oerbeck,Ingrid B Helland,Heather R Adams et al.
Beate Oerbeck et al.
Background: CLN3 Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis, is a childhood-onset neurodegenerative disorder caused by mutations in the CLN3 gene, frequently accompanied by emotional and behavio...
Exploring a cherubism bone phenotype outside the craniofacial region [0.03%]
颅面区域外 cherubism 骨骼表型的探索研究
Anne Morice,Philippe Drabent,Sylvie Thomasseau et al.
Anne Morice et al.
Cherubism is a rare paediatric bone disease caused by gain-of-function mutations in the SH3BP2 gene. This condition is characterized by osteolysis of the jaw bone, which can be sometimes massive, whereby bone is replaced by fibrous tissue c...
Hereditary angioedema and post traumatic stress disorder: a reciprocal relationship? [0.03%]
遗传性血管水肿和创伤后应激障碍：一种相互关系吗？
Sandra C Christiansen,Dewleen G Baker,Bruce L Zuraw
Sandra C Christiansen
Background: Hereditary angioedema (HAE) patients endure repeated unpredictable trauma associated with attacks of disfiguring swelling, severe abdominal pain, risk of asphyxiation or experiences with loss of a loved one wi...
Mitochondrial mutation status, symptom prevalence, and neuroimaging characteristics in MELAS: a systematic review and meta analysis [0.03%]
MELAS线粒体突变状态、症状流行率及神经影像特征的系统评价和meta分析
Yanyan Li,Siying Han,Daiyun Huang et al.
Yanyan Li et al.
Background: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder characterized by a wide range of systemic manifestations. MELAS is challenging to diagnose in...
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study [0.03%]
遗传性代谢病儿童对家庭的影响：一项横断面研究
Andrea J Chow,Isabel Jordan,Nicole Pallone et al.
Andrea J Chow et al.
Background: Children with inherited metabolic diseases (IMDs) often have high care needs that require extensive involvement of family caregivers. This study aimed to describe caregiver experiences, including management of...