Medicine
-
The benefit of total knee arthroplasty (TKA) is that it alleviates pain caused by osteoarthritis; however, other postoperative effects on physical function are unclear. This study aimed to investigate the differences in physical function, proprioception, muscle strength, postural balance, and walking in older women with and without TKA. A total of 36 participants were included in this study; the TKA group comprised older women who underwent TKA (n = 18) and the non TKA group comprised older women who did not undergo TKA (n = 18). ⋯ In the non TKA group, postural balance was significantly associated with muscle strength and walking (P < .05). In particular, it was strongly correlated with walking (R > .90). This study demonstrated that older women undergoing TKA need to actively perform interventions to improve physical function, postural balance, and walking compared with older women with osteoarthritis.
-
In myelodysplastic syndromes (MDS), in addition to disease-related symptoms, many adverse events are associated with anticancer agents, myeloablative conditioning (MAC), and allogeneic hematopoietic stem cell transplantation (allo-HSCT). Isolation and bed rest in a clean room severely limit physical activity, resulting in cardiopulmonary and muscle weakness. In addition, post-transplant patients may experience general fatigue, gastrointestinal symptoms, and infections associated with a weakened immune system, as well as graft-versus-host disease, which causes further decline in physical function and activities of daily living (ADL). Most reports on the rehabilitation of patients with hematopoietic tumors involve interventions before and after chemotherapy or transplantation. However, an important issue is to establish effective and feasible exercise programs in a clean room setting, where activity is severely limited and physical function is most likely to decline. ⋯ The rehabilitation and treatment course of this case may provide valuable information for patients with MDS and thrombocytopenia.
-
Artificial intelligence (AI) is currently integrated into many medical services. AI is utilized in many aspects of orthopedic surgery. The scope ranges from diagnosis to complex surgery. ⋯ However, they were highly interested in utilizing (AI) in many orthopedic surgical aspects. Orthopedic surgery is a rapidly evolving branch of surgery that involves adoption of new technologies. Therefore, orthopedic surgeons should be encouraged to enroll in research activities to generate more studies and reviews to assess the usefulness and safety of emerging technologies.
-
Bone marrow failure (BMF) includes inherited and acquired BMFs. Acquired BMF can be secondary to various factors, such as autoimmune dysfunction, benzene, drugs, radiation, viral infection and so on. Fanconi anemia (FA) complementation group L (FANCL) is an E3 ubiquitin ligase that participates in the repair of DNA damage. Homozygous or compound heterozygous mutations of FANCL can lead to the onset of FA, which is one of the most common inherited BMFs. ⋯ We report for the first time an acquired BMF case with FANCL gene heterozygous mutation, and the mutation site (Exon9, c.745C > T, p.H249Y) has never been reported. This case suggests that heterozygous mutations in FANCL gene may be associated with increased susceptibility to acquired BMF. Based on current reports and this case, we speculate that heterozygous mutations in the FA complementation gene may exist in a certain proportion of tumor and acquired BMF patients, but have not been detected. We recommend routine screening for FA complementation gene mutations in tumor and acquired BMF patients in clinical practice. If positive results are found, further screening can be conducted on their families.
-
Sandhoff disease (SD, Online Mendelian Inheritance in Man: 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the β-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man: 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The symptoms of SD include progressive weakness, intellectual disability, visual and hearing impairment, exaggerated startle response, and seizures; the patients usually die before the age of 3 years.[1]. ⋯ A novel homozygous frameshift c.118delG (p.A40fs*24) variant of HEXB has caused SD in the child. The major symptoms are intellectual disability, visual and hearing impairment, and seizures. Investigation will be continued in the future to comprehensively describe the genotype/phenotype and gain information on other associated features to understand the variable expressivity of this condition.