Medicine
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Gallbladder carcinoma is a malignant biliary tract tumor which is characterized by poor prognosis. Recent advances in genomic medicine have identified a few novel germline mutations that contribute to the increased risk of gallbladder carcinoma. RAD52 is a crucial human deoxyribonucleic acid (DNA) repair gene involved in maintaining genomic stability and preventing tumor occurrence. ⋯ We identified a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma. Our results added to the current body of knowledge. It also provides new insights into genetic counseling and targeted therapeutic strategies for patients with gallbladder carcinoma.
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Observational Study
Type 2 diabetes and the risk of colorectal polyps: A retrospective nationwide population-based study.
The incidence rates of type 2 diabetes mellitus (T2DM) and colorectal polyps have been increasing over the last decades. However, direct associations between T2DM and colorectal polyps have not been extensively reported. We will explore the relationship between T2DM and colorectal polyps. ⋯ In 13 years of follow-up (2000-2013), T2DM was linked to a significantly higher cumulative probability of colorectal polyps (log-rank test: P = .0001). Patients with T2DM had a 1.23-fold higher risk of new colorectal polyps than control patients in 13 years of follow-up. We explain the T2DM increases incidence for colorectal polyps in long term follow-up.
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To describe and advise on management protocols and infection-protection experience of the radiology department in makeshift hospitals in Wuhan during the coronavirus disease 2019 (COVID-19) outbreak. Based on the literature review and the experience in the frontline, we retrospectively reviewed the configuration of the radiology department, human resource, personal protection, examination procedures for patients confirmed with COVID-19 in Wuhan fangcang shelter hospital. ⋯ The CT scanned a patient approximately once every 13 mins. Fangcang shelter radiology department could be powerful components of both global and national responses to the COVID-19 pandemic.
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Observational Study
Study on the effect of percutaneous intervertebral foraminoscopic discectomy in the treatment of lumbar disc herniation.
This study explored the effect of percutaneous intervertebral foraminoscopic discectomy (PIFD) in the treatment of lumbar disc herniation (LDH). This retrospective study collected a total of 88 patient cases for inclusion. Epidemiological and clinical data of patients with LDH at the First Affiliated Hospital of Jiamusi University between May 2017 and January 2020 were retrospectively analyzed. ⋯ Moreover, both groups had similar safety profiles (P > .05). The findings of this study showed that both PIFD and FD benefit patients with LDH. However, PIFD can benefit patients more than FD in the incision size and duration of hospital stay after surgery.
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Case Reports
New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report.
Pediatric patients with WTl-associated syndromes (including Wilms' tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation have the highest risk of developing Wilms' tumor. ⋯ At the last follow-up at the age of 8 years, no pathology requiring treatment was noted. A pair-end-reading (2 × 125) DNA analysis with an average coverage of at least 70 to 100 × revealed a previously unknown heterozygous mutation in exon 7 of the Wilms' tumor suppressor gene 1 (WT1) gene (chr11:32417947G>A), leading to the appearance of a site of premature translation termination in codon 369 (p.Arg369Ter, NM_024426.4). This mutation had not been registered previously in the control samples "1000 genomes," Exome Sequencing Project 6500, and the Exome Aggregation Consortium. Thus, to the best of our knowledge this represents a newly identified mutation causing incomplete Denys-Drash syndrome.