Global frailty screening tools: Review and application of frailty screening tools from 2001 to 2023 [0.03%]
全球脆弱性筛查工具：回顾及应用2001年至2023年的脆弱性筛查工具
Yi Deng,Naomi Sato
Yi Deng
As the aging population increases globally, health-related issues caused by frailty are gradually coming to light and have become a global health priority. Frailty leads to a significantly increased risk of falls, incapacitation, and death....
Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions [0.03%]
NKX2-1的单倍不足很可能导致涉及14q13微缺失的发育迟缓
Osamu Machida,Haruko Sakamoto,Keiko Shimojima Yamamoto et al.
Osamu Machida et al.
Nucleotide variations or deletions in the NK2 homeobox 1 gene (NKX2-1), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-t...
Hiroyuki Tanaka,Mikiko Shimaoka
Hiroyuki Tanaka
This study aimed to depict the emotional journey of Japanese patients with specific intractable diseases facing challenges associated with a delayed diagnosis. Specifically, our focus was on elucidating the emotional journey of patients and...
Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene [0.03%]
Wiskott-Aldrich综合征：WAS基因中的一个新的同义突变
Yuxin Sun,Xiaomin Song,Hua Pan et al.
Yuxin Sun et al.
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder. Mutations in the WAS gene are considered to be the primary cause of WAS. In this work, we report a boy who presented with intracranial hemorrhage...
Clinical features of extrahepatic portal vein obstruction: Myeloproliferative neoplasms eliminate hypersplenic hematologic changes in extrahepatic portal vein obstruction [0.03%]
肝外门静脉阻塞的临床特征：骨髓增生性肿瘤消除了肝外门静脉阻塞的巨脾血液变化特征
Tetsuya Shimizu,Hiroshi Yoshida,Nobuhiko Taniai et al.
Tetsuya Shimizu et al.
Extrahepatic portal vein obstruction (EHPVO) is a rare disease. Most EHPVO patients are usually referred to a gastroenterologist for intestinal bleeding and hypersplenic thrombocytopenia; however, hypercoagulative diseases may be occult in ...
Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility [0.03%]
系统分析与不育症相关的主要出生缺陷中的染色体异常
Fuying Lan,Zhongzhong Chen,Xiaoling Lin
Fuying Lan
Previous studies have indicated an elevated risk of infertility in certain birth defects, including congenital heart disease (CHD), hypospadias, cryptorchidism, and disorders of sexual development (DSD). Although the identification of chrom...
Role of IFITM2 in osteogenic differentiation of C3H10T1/2 mesenchymal stem cells [0.03%]
IFITM2在C3H10T1/2间充质干细胞成骨分化中的作用
Yongtao Zhang,Xiangdong Li,Shanshan Zhang et al.
Yongtao Zhang et al.
Interferon-inducible transmembrane (IFITM) are a family of small proteins localized to plasma and endolysosomal membranes. Their functions beyond restricting viral entry and replication have been revealed in recent years. IFITM5 is involved...
The use of artificial intelligence in the treatment of rare diseases: A scoping review [0.03%]
人工智能在罕见病治疗中的应用：范围综述
Da He,Ru Wang,Zhilin Xu et al.
Da He et al.
With the increasing application of artificial intelligence (AI) in medicine and healthcare, AI technologies have the potential to improve the diagnosis, treatment, and prognosis of rare diseases. Presently, existing research predominantly f...
Surgical outcomes of locally advanced gastrointestinal stromal tumors after multivisceral resection: A retrospective study of 64 patients at a single institution [0.03%]
多脏器切除术后局部晚期胃肠间质瘤的手术疗效评估：单中心64例患者回顾性研究
Hui Qiu,Zhen Wang,Bonan Liu et al.
Hui Qiu et al.
To analyze the outcome in patients who have undergone multivisceral resection (MVR) for locally advanced gastrointestinal stromal tumors (GISTs), and identify the risk factors for tumor recurrence and postoperative morbidity. Sixty-four pat...
Challenges associated with delayed definitive diagnosis among Japanese patients with specific intractable diseases: A cross-sectional study [0.03%]
日本难治性疾病患者延迟明确诊断的相关挑战：一项横断面研究
Hiroyuki Tanaka,Mikiko Shimaoka
Hiroyuki Tanaka
This study aimed to determine the challenges that cause a delay in the diagnosis of Japanese patients with specific intractable diseases by means of a survey. We conducted a questionnaire survey involving 424 patients with 12 specific intra...