Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India [0.03%]
印度首例DeSanto-Shinawi综合征发现新的WAC基因变异体
Aradhana Dwivedi,Lakshita Chauhan,Pramod Kumar et al.
Aradhana Dwivedi et al.
Background: DeSanto-Shinawi Syndrome (DESSH) is a rare neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and distinctive dysmorphic features, linked to likely pathogenic/patho...
Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators [0.03%]
高效CFTR修正剂时代囊性纤维化个性化医疗进展
Burkhard Tümmler,Sophia Theres Pallenberg,Anna-Maria Dittrich et al.
Burkhard Tümmler et al.
Background: Cystic fibrosis (CF) is a systemic disorder of exocrine glands that is caused by mutations in the CFTR gene. Main body: The...
Decoding the role of extracellular vesicles in pathogenesis of cystic fibrosis [0.03%]
囊性纤维化发病机制中细胞外囊泡作用的解析
Priya Kalsi,Nikhil Gupta,Gitanjali Goyal et al.
Priya Kalsi et al.
Background: Intercellular communication is a critical process that ensures cooperation between distinct cell types and maintains homeostasis. In the past decades, extracellular vesicles (EVs) have been recognized as key c...
Hand hygiene versus additional non-sterile gloves and gowns use to prevent sepsis in preterm infants colonized with multi-resistant drug bacteria: the study protocol of the cluster-randomized, cross-over, non-inferiority BALTIC trial [0.03%]
手卫生与非无菌手套和隔离 gown 的使用以预防多药耐药菌定植的早产儿发生血流感染：BALTIC 试验方案（群随机、交叉、非劣效性试验）
Kirstin Faust,Clara Haug,Julia Pagel et al.
Kirstin Faust et al.
Background: Infections are highly relevant for neonatal mortality and long-term morbidities in survivors. Therefore, it is an urgent need to optimize and evaluate infection prevention and control (IPC) strategies. Several...
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy? [0.03%]
PPP5C致病变异的鉴定：一种获得发育性和癫痫性脑病的新见解的关键？
Raffaele Falsaperla,Annamaria Sapuppo,Xena Giada Pappalardo et al.
Raffaele Falsaperla et al.
Background: Emerging evidence suggesting a possible link between the PPP5C gene (protein phosphatase 5 catalytic subunit; OMIM#600658) and developmental and epileptic encephalopathy (DEE, OMIM#308350), although the clinic...
Comparison of the Effectiveness of Paracetamol and Ibuprofen in the Management of Patent Ductus Arteriosus in Preterm Neonates: A Randomized Controlled Trial [0.03%]
布洛芬与对乙酰氨基酚治疗早产儿动脉导管未闭疗效的比较：一项随机对照试验
S Mohsin Ali Shah,Shaista Azeem Khan,Faran Sadiq et al.
S Mohsin Ali Shah et al.
Background: Patent ductus arteriosus is one of the most common cardiac conditions affecting the neonates. Considering the lack of studies done on this topic in healthcare settings in Khyber Pakhtunkhwa province, this stud...
Myocardial mRNA expression of interleukin-6 and hypoxia inducible factor-1α in neonates with congenital cardiac defects [0.03%]
先天性心脏病新生鼠心肌组织中IL-6和HIF-1α的mRNA表达研究
Nesrine Farhat,Jaime Vazquez-Jimenez,Ruth Heying et al.
Nesrine Farhat et al.
Background: In neonates with congenital heart disease (CHD), myocardial remodelling involves activation of inflammatory pathways. The role of hypoxemia related pathways is however unknown. This study was therefore designe...
Impact of steroid therapy on pediatric acute liver failure: prognostic implication and interplay between TNF-α and miR-122 [0.03%]
糖皮质激素治疗对儿童急性肝功能衰竭影响及TNF-α和miR-122的作用机制研究
Rania M El-Shanawany,Eman A El-Maadawy,Hanaa A El-Araby et al.
Rania M El-Shanawany et al.
Background: Acute liver failure (ALF) is a rare illness marked by rapid deterioration of liver function, leading to high morbidity and mortality rates, particularly in children. While steroids have been observed to correl...
Age-stratification reveals age-specific intestinal microbiota signatures in juvenile idiopathic arthritis [0.03%]
年龄分层揭示了幼年特发性关节炎的年龄特定肠道微生物标志物
Lisa Budzinski,Toni Sempert,Leonie Lietz et al.
Lisa Budzinski et al.
Objective: Juvenile Idiopathic Arthritis (JIA) comprises diverse chronic inflammatory conditions driven by malfunction of the immune system. The intestinal microbiota is considered a crucial environmental factor correlati...
Early metabolic and hemodynamic indicators of kidney dysfunction in mice offspring from parental low protein diet [0.03%]
母鼠低蛋白饮食对子代小鼠早期肾功能损害的代谢及血流动力学指标研究
Fabiola Diniz,Francesca Edgington-Giordano,Samir S El-Dahr et al.
Fabiola Diniz et al.
Background: Parental malnutrition, particularly a low-protein diet (LPD), causes oligonephropathy at birth and predisposes offspring to hypertension and chronic kidney disease later in life. The onset of adult kidney dise...