Bojemalone2281

INPLASY2020110062.

This review does not require ethical approval.

This review does not require ethical approval.

Arteriosclerosis has genetic correlation. Many studies have shown that angiotensin II type 1 receptor (AT1R) gene A1166C polymorphism is highly associated with arteriosclerosis, but there is no evidence-based basis. The purpose of this study is to systematically evaluate the relationship between AT1R gene A1166C polymorphism and arteriosclerosis.

The search time is set from the establishment of the database in December 2020 in this study. The search database include China National Knowledge Infrastructure (CNKI), Wanfang, VIP and China Biology Medicine disc (CBM), PubMed, EMBASE, Web of Science, and the Cochrane Library. The subjects are observational studies on the relationship between AGTR1 A1166C polymorphism and arteriosclerosis (including case-control study, cross-sectional study, and cohort study). The language is limited to English and Chinese. The data of the included study are extracted and the literature quality is evaluated by 2 researchers independently. The data are statistically analyzed by Stata 16.0 software.

This study will use pulse wave velocity as an index to evaluate arteriosclerosis to explore the relationship between AT1R gene A1166C polymorphism and arteriosclerosis.

This study will provide evidence-based medicine for elucidating the genetic tendency of arteriosclerosis.

Private information from individuals will not be published. This systematic review also does not involve endangering participant rights. Ethical approval will not be required. The results may be published in a peer-reviewed journal or disseminated at relevant conferences.

DOI 10.17605/OSF.IO/V6E2Y.

DOI 10.17605/OSF.IO/V6E2Y.

Frailty is a common geriatric condition due to aging, defined as a decrease in the functional reserve to maintain the homeostasis. As part of the aging process, body composition changes occur. This study investigated the relationship between body composition and frailty in a community-dwelling elderly Korean population.This cross-sectional cohort study analyzed data of 2,385 elderly participants (aged 70-84 years, 1131 males and 1254 females) of the Korean Frailty and Aging Cohort Study from 2016 to 2017. Body composition, including total and trunk fat masses and fat-free mass, were measured with dual-energy X-ray absorptiometry. Fat mass index (FMI), trunk fat mass index, and fat-free mass index (FFMI) represented total fat mass, trunk fat mass, and fat-free mass according to height. Based on the frailty index developed by Fried, we compared the frail and non-frail groups. Poor physical performance assessed with the short physical performance battery score of < 9 is considered frailty. To evaluate the rth poor physical performance. In contrast, males with low FFMI only showed a significant association with poor physical performance.Frailty was closely correlated with lower FFMI in both sexes. The poor physical performance associated with frailty correlated with fat-related body composition in females and fat-free mass in males, owing to the difference in body composition between the sexes. In the assessment of frailty, body composition and sex-related differences should be analyzed.

Cachexia is a clinically relevant syndrome in cancer that is associated with reduced tolerance to anticancer therapy, reduced quality of life, and reduced survival rates. Cachexia is most prevalent in pancreatic, gastric, colorectal, lung, and head and neck cancers. It is rarely documented in breast cancer patients.

In our case report of a breast cancer patient with bone metastasis who was monitored throughout the course of her treatment, we document the development of cachexia using image analyses in relation to her metastatic burden. In the 2-year period, from April 10, 2015, to February 09, 2017, she lost 16% of her baseline weight. During this time, she was repeatedly hospitalized for chest tightness, edema of both lower limbs, numbness and pain in the left lower extremity and backache.

Our patient was a 46-year-old premenopausal woman when she was firstly diagnosed. Several years after surgery for invasive ductal carcinoma of the left breast, she had multiple systemic bone metastases (the thoracic omputational tomography radiological quantification, may provide clinicians with early indications of the extent of cachexia in metastatic breast cancer patients.

We noted a strong negative correlation between the abdominal muscle area and the metastatic tumor area at the second lumbar vertebral (L2) level. The monitoring of abdominal muscle wasting may serve as a marker, and therefore a prognostic factor, for both cachexia and the extent of metastatic disease. This is especially true with breast cancer, where metastasis to bone is frequent. Our data from a computational tomography radiological quantification, may provide clinicians with early indications of the extent of cachexia in metastatic breast cancer patients.

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Tubacin Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT2 mutations, indicating that additional undiscovered causative genes could be implicated. PKD associated with POLG variant has not been reported.

A 14-year-old boy presented with a 2-month history of involuntary dystonic movements triggered by sudden activities. He was conscious during the attacks. Neurological examination, laboratory tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) were all normal. Genetic analysis showed a novel variant of POLG (c.440G>T, p.Ser147Ile), which was considered to be a likely pathogenic variant in this case.

The patient was diagnosed with PKD.

Low dose carbamazepine was used orally for treatment.

The patient achieved complete resolution of symptoms without any dyskinesia during the 6-month follow up.

Our study identified the novel POLG variant (c.440G>T, p.Ser147Ile) to be a likely pathogenic variant in PKD.

T, p.Ser147Ile) to be a likely pathogenic variant in PKD.