Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.1320330231DOI Listing

Publication Analysis

Top Keywords

duplicate report
4
report crossing
4
crossing norrie
4
norrie disease
4
disease family
4
duplicate
1
crossing
1
norrie
1
disease
1
family
1

Similar Publications

Background And Objectives: Gingivitis and periodontitis are common periodontal diseases that can significantly harm overall oral health, affecting the teeth and their supporting tissues, along with the surrounding anatomical structures, and if left untreated, leading to the total destruction of the alveolar bone and the connective tissues, tooth loss, and other more serious systemic health issues. Numerous studies have shown that propolis can help reduce gum inflammation, inhibit the growth of pathogenic bacteria, and promote tissue regeneration, but with varying degrees of success reported. For this reason, this comprehensive systematic review aims at finding out the truth concerning the efficacy of propolis mouthwashes in treating gingivitis and periodontitis, as its main objective.

View Article and Find Full Text PDF

To investigate the clinicopathological and genetic features of infantile rhabdomyofibrosarcoma (IRFS) with EGFR kinase domain duplication (EGFR-KDD). The clinical, morphological and immunohistochemical features of three IRFS with EGFR-KDD diagnosed from January 2022 to January 2024 at Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed using PCR or next generation sequencing technique; and related literature was reviewed. There were 1 male and 2 females, aged at presentation ranging from 1 to 4 years.

View Article and Find Full Text PDF

Introduction: Non-adherence to tuberculosis (TB) treatment poses a significant challenge to effective TB management globally and is a major contributor to the emergence of multidrug-resistant TB. Although adherence to TB treatment has been widely studied, a comprehensive evaluation of the comparative levels of adherence in high- versus low-TB burden settings remains lacking. The objective of this systematic review and meta-analysis is to assess the levels of adherence to TB treatment in high-TB burden countries compared to low-burden countries.

View Article and Find Full Text PDF

Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.

View Article and Find Full Text PDF

Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.

Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!