Jianan Jie,Mengling Qiu,Xing Liu et al.
Jianan Jie et al.
Whole-exome sequencing identified a novel de novo heterozygous LEF1 variant (c.880 C > T; p.Pro294Ser) in a male pediatric patient who presented with intractable chronic yellow-green watery diarrhea with onset at 18 months of age. The condi...
Preventive application of lung growth factors and lack of attenuation of phenotype disruption of lung resident MSC from preterm infants by hyperoxia [0.03%]
预防性应用肺生长因子及早产儿肺部居民间充质干细胞不受高氧暴露影响而导致表型紊乱的研究
Lena Holzfurtner,Judith Behnke,Pauline Korte et al.
Lena Holzfurtner et al.
Background: Phenotype disruption of lung resident mesenchymal stem cells (MSC) is a key event in the pathogenesis of bronchopulmonary dysplasia (BPD). Hyperoxia (HOX) constitutes one major harmful factor resulting in grow...
In-hospital rotavirus vaccination in premature and medically ill infants: a systematic review of uptake and safety [0.03%]
早产和患病婴儿院内轮状病毒疫苗接种的系统评价：接受率及安全性
Janna-Lina Kerth,Calvin Kurz,Jonas Obitz et al.
Janna-Lina Kerth et al.
Background: Rotavirus vaccination is widely recommended in infancy and has substantially reduced morbidity from severe gastroenteritis. In premature and medically ill infants, prolonged hospitalization often interferes wi...
Caffeine citrate increases ciliary beat frequency in human respiratory epithelial cells [0.03%]
柠檬酸咖啡因可增加人体呼吸上皮细胞的纤毛摆动频率
Sandra Cindrić,Laura Bodenbeck,Rim Hjeij et al.
Sandra Cindrić et al.
Background: Caffeine citrate is the gold-standard pharmacological treatment for apnea of prematurity, improving survival and long-term respiratory outcomes in preterm infants. Beyond its established central nervous system...
Real-world impact of nirsevimab on RSV hospitalizations in children under 2 years of age: retrospective monocentric study in a large German tertiary pedatric center [0.03%]
nirsevimab对2岁以下儿童RSV住院的现实世界影响：德国大型三级儿科中心的回顾性单中心研究
Moritz Bauer,Anke Wendt,Marcus A Mall et al.
Moritz Bauer et al.
Background: Respiratory syncytial virus (RSV) infection is a leading cause of hospitalization among infants and young children. Broad immunization with the monoclonal antibody nirsevimab represents a promising preventive ...
Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome [0.03%]
22q11.2DS的表型拷贝：揭示临床疑似22q11.2缺失综合征中的遗传多样性
Fanni Szumutku,Anna Lengyel,Éva Pinti et al.
Fanni Szumutku et al.
Background: Although 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, a substantial proportion of patients with clinically suspected 22q11.2DS (clin22q11.2) remain without a definit...
Current skin care practices in very low birth weight infants in German Neonatal Intensive Care Units - results from a cross-sectional survey [0.03%]
德国NICU极低出生体重儿的当前皮肤护理实践——一项横断面调查结果
Janina Marissen,Regina Thoma,Christoph Härtel
Janina Marissen
Background: The skin is the largest epithelial organ and a critical barrier. However, in preterm infants, particularly very low birth weight infants (VLBWI, < 1500 g), it is immature and highly susceptible to injury and i...
Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing [0.03%]
APBA1蛋白质截短变异体与儿童期严重肥胖的关系及对基因检测的启示
Joanna Lerner,Abubakar Moawia,Stefanie Zorn et al.
Joanna Lerner et al.
Background: Severe, early-onset obesity is a monogenic disorder in a subset of patients. Recently, rare protein-truncating variants (PTVs) in BSN and APBA1 have been implicated as monogenic causes of obesity. Truncating v...
Daniela Angelova-Toshkina,Denny Schanze,Pia Vaassen et al.
Daniela Angelova-Toshkina et al.
Genetic testing in neurofibromatosis type 1 (NF1) occasionally reveals two heterozygous NF1 variants in the same individual. Correct interpretation hinges on allelic phasing, elucidation of somatic second hits in lesions, and distinction fr...
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review [0.03%]
一例与HNF1B有关的疾病早期诊断线索的新生儿糖尿病甲亢病例报告及文献复习
Marcin Kołbuc,Paweł Bednarek,Rafał Motyka et al.
Marcin Kołbuc et al.
Background: Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to as ...