Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion [0.03%]
与CA2基因纯合子缺失相关联的焦磷酸酶缺乏综合症伴牙本质发育不全
Luan Deives Rodrigues Leite,Kêmelly Karolliny Moreira Resende,Lídia Dos Santos Rosa et al.
Luan Deives Rodrigues Leite et al.
We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger s...
Analysis of microsatellite instability (MSI) in pediatric gonadal and extra-gonadal germ cell tumors [0.03%]
微卫星不稳定(MSI)在儿童生殖细胞瘤中的分析研究
Marco Montella,Maria Elena Errico,Andrea Ronchi et al.
Marco Montella et al.
Gonadal and extragonadal pediatric germ cell tumors (GCTs) are rare neoplasms with different clinical behavior. Although surgery and cisplatin-based chemotherapy are resolutive in most cases, some patients do not respond to chemotherapy and...
Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review [0.03%]
发达国家罕见病携带者筛查项目及土耳其案例的系统性综述
Çağlar Fidan,Recep Akdur,Çiğdem Naz Ünver et al.
Çağlar Fidan et al.
Effective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at-risk groups. This review examines the impact, implementa...
Diagnosis, treatment, and research status of rare diseases related to birth defects [0.03%]
罕见出生缺陷的诊疗及研究现状
Hongjuan Zhao,Chen Du,Guang Yang et al.
Hongjuan Zhao et al.
Rare diseases are diseases that occur at low prevalence, and most of them are chronic and serious diseases that are often life-threatening. Currently, there is no unified definition for rare diseases. The diagnosis, treatment, and research ...
Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis [0.03%]
日本遗传性感觉神经病（HMSN-P）患者的重新调查：早期诊断的痛苦肌肉痉挛
Hiroshi Shoji,Ryosuke Sakamoto,Chisato Saito et al.
Hiroshi Shoji et al.
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an intractable neurological disease with autosomal dominant inheritance, four-limb weakness, sensory impairment, and a slowly progressive course. HMSN-P ...
Ortner's syndrome: A systematic review of presentation, diagnosis and management [0.03%]
奥特纳综合征的系统性回顾：临床表现、诊断和治疗
Sameer Verma,Ankoor Talwar,Abhinav Talwar et al.
Sameer Verma et al.
Ortner's syndrome (OS), also called cardiovocal syndrome, is a rare condition hallmarked by left recurrent laryngeal nerve palsy due to underlying cardiopulmonary disease. The purpose of this review is to systemically analyze the existing l...
The novel role of IFITM1-3 in myogenic differentiation of C2C12 cells [0.03%]
IFITM1-3在C2C12肌细胞分化中的新功能研究
Yongtao Zhang,Yanqin Lu,Xianxian Li et al.
Yongtao Zhang et al.
Interferon-induced transmembrane proteins (IFITMs 1, 2, and 3) play a critical role in preventing pathogen infection in vertebrates. They are also involved in the occurrence and prognosis of cancer. Myogenesis is a complex process regulated...
Wei Zhi,Meilin Liu,Dan Yang et al.
Wei Zhi et al.
In recent years, China has increased attention on the issue of rare diseases, and the government has promulgated rare disease-related policies to gradually improve rare disease diagnosis, treatment, drug marketing, and patient burden. Orpha...
Yudo Kusaba,Ikko Kajihara,Ryoko Sakamoto et al.
Yudo Kusaba et al.
Oncogenic PIK3CA mutation activates phosphoinositide 3-kinase (PI3K) enzyme, and PI3K-AKT signaling activation induces several growth-regulatory transcription factors. PIK3CA mutations have attracted attention as biomarker in clinical trial...
Trust in physicians and definitive diagnosis time among Japanese patients with specific intractable diseases: A cross-sectional study [0.03%]
日本特定难治性疾病患者的医师信任度及其确诊时间：横断面研究
Hiroyuki Tanaka,Mikiko Shimaoka
Hiroyuki Tanaka
Trust in physicians is an important metric in shared decision-making. Many patients with rare diseases experience misdiagnosis or delayed diagnosis because of difficulties in diagnosis or access to specialists. What impact do these have on ...