Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.

Background: Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome) is a severe multi-systemic developmental disorder, caused by variants in the SON gene. A patient diagnosed with ZTTK syndrome who carried a de novo SON mutation and exhibited recurrent myocardial injury was described in this case.

Case Presentation: A 7-year-old girl was admitted to the Cardiology Department of Beijing Children's Hospital in November 2019 due to myocardial injury following respiratory infection.

Precessing jet nozzle connecting to a spinning black hole in M87.

The nearby radio galaxy M87 offers a unique opportunity to explore the connections between the central supermassive black hole and relativistic jets. Previous studies of the inner region of M87 revealed a wide opening angle for the jet originating near the black hole. The Event Horizon Telescope resolved the central radio source and found an asymmetric ring structure consistent with expectations from general relativity.

Performance of two interferon-gamma release assays for tuberculosis infection screening in Kawasaki children before immunosuppressive therapy.

Objective: We aimed to compare QuantiFERON-TB Gold In-Tube (QFT-GIT) and X.DOT-TB for screening latent tuberculosis infection (LTBI) in kawasaki patients, and to identify the risk factors associated with indeterminate IGRA results.

Methods: We conducted a retrospective study on children with KD, who were screened for mycobacterium tuberculosis (Mtb) infection by either ELISA-based QFT-GIT or ELISPOT-based X.

Transseptal approach for catheter ablation of left-sided accessory pathways in children with Marfan syndrome: A case report.

Background: Left-sided accessory pathways (APs) can be accessed with either a transaortic (TA) or transseptal approach (TS). For children with Marfan syndrome (MFS) who have aortic disease, the use of TA can aggravate the disease, making TS the best choice for these patients.

Case Summary: A 10-year-old girl was hospitalized because of intermittent heart palpitations and chest tightness.

Transseptal Approach Versus Transaortic Approach for Catheter Ablation of Left-Sided Accessory Pathways in Children.

Background: Catheter ablation is recommended to eradicate supraventricular tachycardia caused by left-sided accessory pathways (APs) in children. This study aims to compare the safety and efficacy of the transseptal approach (TS) and aortic approach (TA) for catheter ablation of left-sided APs in a pediatric cohort.

Methods: Patients < 18 years of age with left-sided APs who had undergone ablation at Beijing Children's Hospital between 13 January 2018 and 7 January 2020 were included and randomly categorized into either TS or TA group (follow-up for 22 months).

Deubiquitinase USP7 regulates aging through ubiquitination and autophagy.

Ubiquitination-mediated protein degradation is the selective degradation of diverse forms of damaged proteins that are tagged with ubiquitin, while deubiquitinating enzymes reverse ubiquitination-mediated protein degradation by removing the ubiquitin chain from the target protein. The interactions of ubiquitinating and deubiquitinating enzymes are required to maintain protein homeostasis. The ubiquitin-specific protease USP7 is a deubiquitinating enzyme that indirectly plays a role in repairing DNA damage and development.

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

Background: Biallelic variants of the CASQ2 are known to cause the autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease that predisposes young individuals to syncope and sudden cardiac death. To date, only about 24 CASQ2 variants have been reported in association with CPVT pathogenesis; furthermore, studies in Asians, especially in the Chinese population, are relatively rare. The aim of this study was to detect CASQ2 variants in Chinese patients with CPVT.

14-3-3 Proteins Are on the Crossroads of Cancer, Aging, and Age-Related Neurodegenerative Disease.

14-3-3 proteins are a family of conserved regulatory adaptor molecules which are expressed in all eukaryotic cells. These proteins participate in a variety of intracellular processes by recognizing specific phosphorylation motifs and interacting with hundreds of target proteins. Also, 14-3-3 proteins act as molecular chaperones, preventing the aggregation of unfolded proteins under conditions of cellular stress.

Second-look endoscopy is not associated with better clinical outcomes after gastric endoscopic submucosal dissection: a prospective, randomized, clinical trial analyzed on an as-treated basis.

Background: The efficacy of routine second-look endoscopy (SLE) to detect or prevent bleeding after gastric endoscopic submucosal dissection (ESD) has not yet been validated.

Objective: The aim of this study was to determine whether SLE affects clinical outcomes including bleeding and morbidity after gastric ESD.

Design: A prospective, randomized, controlled study with consecutive data analyzed on an as-treated basis.