Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case [0.03%]
MC4R缺陷引起的单基因型肥胖症：一个多代家庭的启示
Eleni Z Giannopoulou,Stefanie Zorn,Melanie Schirmer et al.
Eleni Z Giannopoulou et al.
Background: Melanocortin 4 receptor (MC4R) deficiency is the most common monogenic cause of obesity, yet remains underdiagnosed. Patients with monogenic obesity often undergo a frustrating diagnostic and therapeutic odyss...
Claudia U Duerr,Marcus A Mall
Claudia U Duerr
ILC2s are innate lymphoid cells that become activated by alarmins and are major producers of type 2 signature cytokines. In mice and human, ILC2s have been identified and characterized in several pre-clinical disease models and patients wit...
Pazopanib as maintenance therapy in pediatric ewing sarcoma: a case series of six patients [0.03%]
帕唑帕尼作为六例儿童尤因肉瘤维持治疗的疗效观察报告
Nihan Bayram,Murat Elli,Yontem Yaman et al.
Nihan Bayram et al.
Introduction: Ewing sarcoma (ES) is an aggressive pediatric bone and soft tissue malignancy. Despite advances in multimodal therapy, outcomes remain suboptimal for patients with high-risk features such as large tumor volu...
Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept [0.03%]
NRAS突变引起的先天性免疫缺陷患者的早期系统性红斑狼疮及泰利菲珠单抗治疗
Zhijuan Kang,Liang Zhang
Zhijuan Kang
Here, we report a female (aged 1 year and 8 months) who presented with recurrent skin lesions, hepatosplenomegaly, lymphadenopathy, and fever. She was diagnosed initially with systemic lupus erythematosus and lupus nephritis with mild anemi...
Serum bile acid profiles in pediatric gastrointestinal, hepatic and biliary diseases [0.03%]
儿科胃肠病、肝病和胆道疾病中的血清胆汁酸谱型分析
Katja Linz,Felix Wachter,Merle Claßen et al.
Katja Linz et al.
Background and aims: Altered bile acids (BA) are key drivers of hepatic disorders and beyond. The breakdown of BA profiles could serve as advanced biomarkers, but data in pediatric patients is scarce. In this work we retr...
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants [0.03%]
埃及患者遗传性肾脏疾病的遗传病因：下一代测序鉴定出六个新型突变
Nesma M Elaraby,Ammal M Metwally,Sara M Sayed et al.
Nesma M Elaraby et al.
Background: Inherited kidney diseases (IKDs) are a significant cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD), especially in children. While next-generation sequencing (NGS) has enhanced IKD dia...
Standardized sample preparation of paediatric bronchoalveolar lavage fluid for mass spectrometry based proteomic analysis [0.03%]
基于质谱的蛋白质组学分析中儿童支气管肺泡灌洗液样本处理的标准化
Nadine Freitag,Dirk Schramm,Anja Stefanski et al.
Nadine Freitag et al.
Background: Bronchoalveolar lavage fluid (BALF) is a valuable diagnostic and research tool in paediatric respiratory medicine. Mass spectrometry-based proteomic analysis of BALF can contribute to uncover disease mechanism...
Widespread prevalence of CD19 exon 5-6 skipping in primary pediatric B-Cell acute lymphoblastic leukemia patients [0.03%]
儿童B淋巴细胞急性淋巴细胞白血病患者中CD19第5和第6外显子跳跃广泛存在
Devesh Srivastava,Anurag Gupta,Nishant Verma et al.
Devesh Srivastava et al.
Background: B-cell acute lymphoblastic leukemia (B-ALL) is characterized by the malignant burgeoning of abnormal B-cell lymphoblasts. In recent years, the use of chimeric antigen receptor T-cell (CAR-T) therapy which targ...
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature [0.03%]
Niemann-Pick病A/B边界性病变一例及文献复习
Mohamed El-Mezayen,Abdelrahman M Tawfik,Abdalla M Hadhoud et al.
Mohamed El-Mezayen et al.
Background: Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations. It is characterized by sphingomyel...
surviBALL: exploring lncRNA expression at diagnosis for 5-year EFS risk stratification in pediatric B-ALL-a proof of concept [0.03%]
surviBALL：探索诊断时长链非编码RNA表达在儿童B细胞急性淋巴细胞白血病5年EFS风险分层中的作用-概念验证研究
Unai Illarregi,Nerea Bilbao-Aldaiturriaga,Angela Gutierrez-Camino et al.
Unai Illarregi et al.
Background: B-cell Acute Lymphoblastic Leukemia (B-ALL) remains an important cause of cancer-related death in children. Therefore, accurate identification at diagnosis of patients at high risk of relapse is crucial. In th...