Background: Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children. Early detection and intervention before the appearance of a newborn's clinical symptoms can control disease progression and prevent or mitigate its serious consequences.
Methods: 42,004 newborns from two Chinese populations were included in the study.
Cordycepin is considered a major bioactive component in extract. This study was performed to evaluate the ameliorative effect of extract (CME) and cordycepin (CPN) supplementation on intestinal damage in LPS-challenged piglets. The results showed that CPN or CME supplementation significantly increased the villus height ( < 0.
View Article and Find Full Text PDFBackground: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%-27% of all CMS cases. Whether preimplantation genetic testing for monogenic disease (PGT-M) could be used to prevent the potential birth of CMS-affected children is unclear.
View Article and Find Full Text PDFTriple-negative breast cancer (TNBC) is a heterogeneous subtype of breast cancer. Anti-PD-1/PD-L1 treatment for advanced TNBC is still limited to PD-L1-positive patients. Ataxia telangiectasia mutated (ATM) is a switch molecule for homologous recombination and repair.
View Article and Find Full Text PDFAnnu Int Conf IEEE Eng Med Biol Soc
July 2023
Autism has become one of the primary diseases causing disability in children, and the incidence has risen rapidly in recent years. The preclinical study on individuals with high autistic traits is extremely important to reduce genetic risks of autism because high autistic traits is the susceptibility marker of autism. However, few studies explored the face scanning pattern of people with high autistic traits in typical developing populations.
View Article and Find Full Text PDFBackground: Isoleucinyl-tRNA synthetase (IARS) is encoded by the IARS1 gene and catalyzes the binding of isoleucine to specific tRNA.
Objective: This study aims to investigate the pathogenicity of novel IARS1 variants and the genotype-phenotype association, in order to expand the spectrum of pathogenic variants and phenotypes of IARS1-related disease and provide new evidence for the phenotypic spectrum of IARS1 variants.
Methods: Clinical data of the proband were collected, and trio whole-exome sequencing (WES) was performed on the proband and the parents.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2023
Background: The association of key genes in the transforming growth factor-β (TGF-β) signaling pathway and their gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) is unclear.
Objective: To investigate the association of gene polymorphisms related to the TGF-β signaling pathway in URSA women.
Methods: The study population consisted of 80 women with URSA and 90 normal control women, of which 10 women with URSA and 10 normal control women underwent high-throughput sequencing to select loci, and the remaining 70 women with URSA and 80 normal control women underwent flight mass spectrometry experiments to verify gene loci polymorphism.
A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes of the three children were normal.
View Article and Find Full Text PDFThe changes that COVID-19 pandemic has brought upon the world are unprecedented. Its impact on students' learning is equally profound, making it critical to heed students' academic achievement effects that may derive from these alterations. Therefore, the present study explored an integrative model of mental health, self-regulated learning and academic achievement among adolescents during the pandemic.
View Article and Find Full Text PDFHigh level of tumor-infiltrating lymphocytes (TILs) can predict the rate of total pathological complete remission (tpCR) of breast cancer patients who receive neoadjuvant chemotherapy (NACT). This study focused on evaluating the data of patients whose primary tumor and/or lymph node metastasis show nonresponse (NR) to NACT, trying to provide a basis for the clinical decision which patients will develop NACT resistance. The study included breast cancers from 991 patients who received NACT.
View Article and Find Full Text PDFIntroduction: Reduced fixation to the eye area is the main characteristic of social deficits associated with Autism Spectrum Disorder; a similar pattern may exist in individuals with high autistic traits. However, their scanning patterns to the eye area of emotional faces are still unclear on the time scale.
Methods: In the present study, we recruited 46 participants and divided them into the high autistic traits (HAT) group (23 participants) and the low autistic traits (LAT) group (20 participants) based on their Autism Spectrum Quotient (AQ) scores.
J Musculoskelet Neuronal Interact
June 2022
Objectives: MicroRNAs (miRNAs) have been considered as a new class of novel diagnostic and predictive biomarker in many diseases. However, there are few studies on miRNA in osteosarcoma (OS). This study aimed to investigate the roles of miR-30 on OS occurrence and development.
View Article and Find Full Text PDFThe health status of weaned pigs is crucial for their subsequent growth performance. Supplementation with fermented feedstuff is able to improve the feed intake and growth of weaned pigs; however, the exact mechanism behind this is not clear. Hence, in the present study a total of 320 Duroc × Landrace × Yorkshire weaned pigs were selected and allocated to the following two groups: unfermented diet group (UFD) and fermented diet group (FD).
View Article and Find Full Text PDFCancer-associated fibroblasts (CAFs) serve as a predominant regulator in the tumor microenvironment. However, the crosstalk between CAFs and OS cells remains mostly unclear. Recent studies explored that long non-coding RNA (LncRNAs) involved in regulating osteosarcoma (OS) formation and development, but their functions in CAFs are unknown.
View Article and Find Full Text PDFHomozygous or compound heterozygous mutations in the gene cause Charcot-Marie-Tooth (CMT4A) that are consistent with an autosomal recessive mode of inheritance. The case reported in this study is clinically and genetically diagnosed with recessive CMT4A that is caused by a compound novel heterozygous mutation. The genomic DNA of the proband with the clinical diagnosis of CMT was screened for mutations using a targeted next-generation sequencing (NGS) gene-panel that comprised of 27 CMT genes.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2021
Objective: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity.
Methods: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents.
Osteosarcoma (OS) is one of the most aggressive malignancies, accompanied by an elevated incidence and a decreased rate of healing. Recently, several long non‑coding RNAs (lncRNAs) have been reported to be involved in OS progression. Although tumor suppressor candidate 7 (TUSC7) was reported as a novel lncRNA, little is known about its biological functions in OS.
View Article and Find Full Text PDFBackground: Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.
View Article and Find Full Text PDFThe comparison of intrathecal ropivacaine with bupivacaine for knee arthroscopy remains controversial. We conduct a systematic review and meta-analysis to explore the efficacy of intrathecal ropivacaine versus bupivacaine for knee arthroscopy. We search PubMed, EMbase, Web of science, EBSCO, and Cochrane library databases through August 2019 for randomized controlled trials (RCTs) assessing the effect of intrathecal ropivacaine versus bupivacaine for knee arthroscopy.
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