Bibliometric analysis of the literature on von Willebrand disease: Research status and trends.

BACKGROUND AND AIM: Von Willebrand disease (VWD) is considered the most prevalent inherited bleeding disorder. The current study aims to demonstrate the research status and trends on VWD worldwide. METHODS: Bibliometric analysis was used to investigate the global research productivity and trends on VWD. The publications on VWD from 1956 to 2021 were extracted using the Web of Science database. In the VWD domain, a total of 3,643 records were analyzed for authorship and collaboration patterns, yearly productivity, highly cited documents, relevant source of publication, most prolific scholars, productive countries, and organizations. RESULTS: The most productive journal, author, organization, and country were 'Haemophilia' with 439 publications, 'Favaloro EJ' with 119 publications, the 'University of Milan' with 192 publications, and the United States of America (USA) with 1,048 publications, respectively. The document with the highest citations was 'Srivastava A, 2013, Haemophilia,' which received 1,154 citations in total. In 2016, the highest number of publications shared by two author patterns was 28. With 199 publications, the year 2021 remained on the top, while the citation-wise analysis identified 2006 as the top year with 5,379 citations. CONCLUSIONS: Research productivity and publication trends on VWD revealed that the USA emerged as the most significant contributing country. The 'University of Milan' was the most significant contributing organization, while 'Favaloro EJ' was the most significant author. 'Hemophilia' was found to be the most significant journal in the field of VWD. It is recommended that researchers from countries with significant contributions to the field should collaborate with researchers from Asian countries and other countries that lack behind in research in the domain of VWD.(www.actabiomedica.it).

Research productivity in the genetics of papillary thyroid carcinoma (1991-2020): a bibliometric analysis.

BACKGROUND AND AIM: Papillary thyroid carcinoma accounts for 85% of thyroid follicular epithelial-derived cancers. The identification of pathogenetic mechanisms improved the understating of papillary thyroid carcinoma pathogenesis. The current study aims to examine the research productivity and trends in the genetics of papillary thyroid carcinoma from 1991 to 2020. METHODS: The Web of Science Core Collection database was searched to retrieve the relevant literature. A search string was applied and 1,741 relevant records were selected for the analysis. Bibliometric techniques were used in the statistical analysis with the help of Biblioshiny (RStudio). RESULTS: The growth in the number of publications was observed to be over a hundred publications per year since 2015. 'Thyroid' published the highest number of publications, followed by 'Journal of Clinical Endocrinology & Metabolism'. 'Nikiforov YE' was identified as the most productive researcher with a total of 49 publications. Out of the top 20 most contributing researchers, seven belonged to Italy, and four were from the USA. 'University of Pittsburgh' contributed the highest number of publications. The top contributing countries in this field were the USA, China, and Italy. BRAF and RAS were among the frequently used keywords. CONCLUSIONS: This bibliometric review demonstrates that investigating the genetics underlying papillary thyroid carcinoma is a rapidly growing area of research. During the last two decades, China has been a significant contributor to the field. Besides, institutions in USA and Italy have significantly contributed to research in the genetics of papillary thyroid carcinoma. (www.actabiomedica.it).

Exome sequencing of Saudi Arabian patients with ADPKD.

Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation. Of the CRISP patients with a genetic cause detected, mutations in PKD1 accounted for 85%, while mutations in the PKD2 accounted for the remaining 15%. Here, we report exome sequencing of 16 Saudi patients diagnosed with ADPKD and 16 ethnically matched controls. Methods: Exome sequencing was performed using combinatorial probe-anchor synthesis and improved DNA Nanoballs technology on BGISEQ-500 sequencers (BGI, China) using the BGI Exome V4 (59 Mb) Kit. Identified variants were validated with Sanger sequencing. Results: With the exception of GC-rich exon 1, we obtained excellent coverage of PKD1 (mean read depth = 88) including both duplicated and non-duplicated regions. Of nine patients with typical ADPKD presentations (bilateral symmetrical kidney involvement, positive family history, concordant imaging, and kidney function), four had protein truncating PKD1 mutations, one had a PKD1 missense mutation, and one had a PKD2 mutation. These variants have not been previously observed in the Saudi population. In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2. Conclusions: Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD. Abbreviations: ADPKD: Autosomal dominant polycystic kidney disease; CFTR: Cystic fibrosis transmembrane conductance regulator; EGF: Epidermal growth factor; MCIC: Mayo Clinic Imaging Classification; PKD: Polycystic kidney disease; TSC2: Tuberous sclerosis complex 2.