Medicine
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22q13.3 deletion syndrome is a well-known syndrome characterized by typical clinical findings including neonatal hypotonia, absent or severely delayed speech, intellectual disability, and other various features, and detection of a heterozygous deletion of chromosome 22q13.3 with the involvement of at least part of SHANK3. It is reported that 10% to 29% of patients with 22q13.3 deletion syndrome present lymphedema. Protein-losing enteropathy (PLE) has never been reported in 22q13.3 deletion syndrome. ⋯ Primary lymphedema and PLE can occur simultaneously in a patient with 22q13.3 deletion syndrome. The 2 phenotypes could share the same genetic etiology of congenital lymphatic abnormalities. CELSR1 deletion may play a role in lymphatic dysplasia. The case also provides additional proof of the pathogenic effect of CELSR1 on hereditary lymphedema.
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Case Reports
Clinicopathological analysis and genomic profiling of a rare histiocyte-rich rhabdomyoblastic tumor: A case report.
Skeletal muscle tumors are traditionally classified as rhabdomyomas or rhabdomyosarcomas. However, some soft tissue tumors cannot easily be identified as benign or malignant. We report a case of a histiocyte-rich rhabdomyoblastic tumor, with pathologic characteristics distinct from either rhabdomyoma or rhabdomyosarcoma. In contrast to rhabdomyosarcomas, the tumor cells exhibited low mitotic activity, lacking obvious morphologic atypia. Clinically, the tumor followed a very indolent course. Overall, the tumor did not fit classification criteria for either benign or malignant. ⋯ Histiocyte-rich rhabdomyoblastic tumor cells have minor atypia, indicating possible malignant potential. However, the tumor behavior was quit indolent. Due to the conflicting clinical and pathologic aspects of the tumor, to label it as rhabdomyosarcoma seemed inaccurate, potentially prompting over treatment. Interestingly, mutations were detected in NF1, AXIN2, CHEK2, DNMT3A, KMT2D, and RB1 through next-generation sequencing. These mutations suggest disruptions in Ras signaling, the Wnt pathway, methyltransferases, and the cell cyclepotentially influencing the development of this histiocyte-rich rhabdomyoblastic tumor. This unusual tumor should be incorporated into the WHO Classification of Soft Tissue Tumors owing to its unique characteristics.
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Thymic epithelial tumors (TETs), originating from the thymic epithelial cells, are the most common primary neoplasms of the anterior mediastinum. Emerging evidence demonstrated that the competing endogenous RNAs (ceRNAs) exerted a crucial effect on tumor development. Hence, it is urgent to understand the regulatory mechanism of ceRNAs in TETs and its impact on tumor prognosis. ⋯ Our study revealed that ceRNAs modules might exert a crucial role in the progression of TETs. The mRNA associated-ceRNA modules could effectively predict the prognosis of TETs, which might be the potential prognostic and therapeutic markers for TETs patients.
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Spinal sarcopenia is a multifactorial disorder associated with the atrophy of and fatty changes to the paraspinal muscles. We previously developed the concept of spinal sarcopenia in community-dwelling older adults and investigated the association between conventional sarcopenic indices and spinal sarcopenia. However, interventional studies of spinal sarcopenia are lacking. This pilot study will aim to evaluate the effectiveness of a combined exercise and nutrition intervention for treating spinal sarcopenia. ⋯ This open-label single-arm prospective study will include 35 community-dwelling older women who were diagnosed with spinal sarcopenia in our previous cohort study. The 12-week combined intervention will consist of back extensor strengthening exercise and nutritional supplementation. The primary outcome of this study will be isometric back extensor strength after the 12-week intervention. All functional and radiographic outcomes will be measured at 0, 12, and 24 weeks post-intervention. The data will be analyzed using the intention-to-treat principle.
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Osteoporosis is a common bone disease that has a significant social and economic effect. Many meta-analyses of pharmacological and non-pharmacological treatments for osteoporosis have been reported, but the findings may be contradictory, and both the reporting and methodological quality remain unknown. As a result, an overview that includes a network meta-analysis was proposed to address these issues. ⋯ INPLASY202150022.