Medicine
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Nowadays laparoscopic cholecystectomy is considered as criterion standard for surgical treatment of acute calculous cholecystitis. During the last few years, there has been growing interest about the robotic approach. Several authors have reported the superiority of robotic cholecystectomy, associated with a lower percentage of conversion especially in patients with intraoperative diagnosis of acute or gangrenous cholecystitis. We report 3 case reports of moderate acute cholecystitis successfully treated by robotic cholecystectomy. ⋯ Robotic cholecystectomy for ACC is feasible and safe. Several studies have demonstrated that robotic approach reduces the risk of conversion to open surgery in case of acute or gangrenous cholecystitis. Our results are in line with current literature. In fact, we have successfully treated 2 patients with empyematous acute cholecystitis and 1 with gangrenous cholecystitis with a totally robotic approach, without any complications or need of conversion to open surgery. In conclusion, our results confirm that it is the time to include robotic surgery in the emergency setting.
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About 8384 cases of solid pseudopapillary neoplasms (SPN) of pancreas have been published in English literature, from 1933 to 2018. This is a low-grade tumor that usually occurs in children but is rare in adults and, in exceptional cases, can show extrapancreatic localization. In this paper we present 2 unusual cases of SPNs, 1 with retroperitoneal location (case 1) and 1 that was firstly diagnosed as a G1 neuroendocrine tumor (NET) and showed hepatic metastases after 13 years (case 2). ⋯ Without a complex immunoprofile, SPN can be misdiagnosed as NET. SPN can be a low-grade tumor but long-time follow-up is mandatory to detect delayed metastases. A correct diagnosis is necessary for a proper therapeutic management.
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Tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot is exceedingly rare, thus may bring great challenges to the timely and proper diagnosis and treatment of clinicians. The only definitive management is removal of the phosphaturic mesenchymal tumor completely. The objective of this article is to report 2 unusual cases with tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot. ⋯ The patients showed appropriate destruction of the tumor, adequate pain relief, and the elevated blood phosphorus levels compared with the previous status. Surgical resection is the most effective treatment option for patients with tumor-induced osteomalacia who can undergo appropriate surgical treatment. This represents a safe and reasonable approach to sustainably relieve pain and other symptoms with tumor-induced osteomalacia in the foot.
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Case Reports
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.
Spondylometaphyseal dysplasia (SMD) is an extremely rare disorder of irregular development of spine and metaphyses of long tubular bones. Mutations in the collagen type X alpha 1 gene were found to underlie this condition. Previously reported mutations in the N-terminal non-collagenous NC2 domain and C-terminal non-collagenous NC1 domain failed to be identified in some specific patients. ⋯ The findings corroborated that type X collagen plays a critical role in the formation of the human spine as well as the long bones, and further expanded the range of type X collagenopathy. Surgical procedure could be considered for patients with severe malformation and neurological impairments.
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Our study investigated the association of five genes with MCI in the Xinjiang Uygur population in China. In addition, we also analyzed the association between APOE methylation and MCI. Forty-three MCI and 125 controls were included in the present study. ⋯ This study found a significant association of HMGCR rs3846662 with MCI in females independent of APOE ε4. In contrast, we revealed that the association of SIRT1 rs7895833 with MCI was dependent on with APOE ε4. We also showed that hypermethylation of APOE in MCI was independent of APOE ε4.