Background: Sarcopenia, a multifactorial disorder involving metabolic disturbance, suggests potential for metabolite biomarkers. Carnitine (CN), essential for skeletal muscle energy metabolism, may be a candidate biomarker. We investigated whether CN metabolites are biomarkers for sarcopenia. Methods: Associations between the CN metabolites identified from an animal model of sarcopenia and muscle cells and sarcopenia status were evaluated in men from an age-matched discovery (72 cases, 72 controls) and a validation (21 cases, 47 controls) cohort. Results: An association between CN metabolites and sarcopenia showed in mouse and cell studies. In the discovery cohort, plasma C5-CN levels were lower in sarcopenic men (P=0.005). C5-CN levels in men tended to be associated with handgrip strength (HGS) (P=0.098) and were significantly associated with skeletal muscle mass (P=0.003). Each standard deviation increase in C5-CN levels reduced the odds of low muscle mass (odd ratio, 0.61; 95% confidence interval [CI], 0.42 to 0.89). The area under the receiver operating characteristic curve (AUROC) of CN score using a regression equation of C5-CN levels, for sarcopenia was 0.635 (95% CI, 0.544 to 0.726). In the discovery cohort, addition of CN score to HGS significantly improved AUROC from 0.646 (95% CI, 0.575 to 0.717; HGS only) to 0.727 (95% CI, 0.643 to 0.810; P=0.006; HGS+CN score). The improvement was confirmed in the validation cohort (AUROC=0.563; 95% CI, 0.470 to 0.656 for HGS; and AUROC=0.712; 95% CI, 0.569 to 0.855 for HGS+CN score; P=0.027). Conclusion C5-CN, indicative of low muscle mass, is a potential circulating biomarker for sarcopenia in men. Further studies are required to confirm these results and explore sarcopenia-related metabolomic changes.

Background: Sarcopenia, a multifactorial disorder involving metabolic disturbance, suggests potential for metabolite biomarkers. Carnitine (CN), essential for skeletal muscle energy metabolism, may be a candidate biomarker. We investigated whether CN metabolites are biomarkers for sarcopenia. Methods: Associations between the CN metabolites identified from an animal model of sarcopenia and muscle cells and sarcopenia status were evaluated in men from an age-matched discovery (72 cases, 72 controls) and a validation (21 cases, 47 controls) cohort. Results: An association between CN metabolites and sarcopenia showed in mouse and cell studies. In the discovery cohort, plasma C5-CN levels were lower in sarcopenic men (P=0.005). C5-CN levels in men tended to be associated with handgrip strength (HGS) (P=0.098) and were significantly associated with skeletal muscle mass (P=0.003). Each standard deviation increase in C5-CN levels reduced the odds of low muscle mass (odd ratio, 0.61; 95% confidence interval [CI], 0.42 to 0.89). The area under the receiver operating characteristic curve (AUROC) of CN score using a regression equation of C5-CN levels, for sarcopenia was 0.635 (95% CI, 0.544 to 0.726). In the discovery cohort, addition of CN score to HGS significantly improved AUROC from 0.646 (95% CI, 0.575 to 0.717; HGS only) to 0.727 (95% CI, 0.643 to 0.810; P=0.006; HGS+CN score). The improvement was confirmed in the validation cohort (AUROC=0.563; 95% CI, 0.470 to 0.656 for HGS; and AUROC=0.712; 95% CI, 0.569 to 0.855 for HGS+CN score; P=0.027). Conclusion C5-CN, indicative of low muscle mass, is a potential circulating biomarker for sarcopenia in men. Further studies are required to confirm these results and explore sarcopenia-related metabolomic changes.

Background: Sarcopenia, a multifactorial disorder involving metabolic disturbance, suggests potential for metabolite biomarkers. Carnitine (CN), essential for skeletal muscle energy metabolism, may be a candidate biomarker. We investigated whether CN metabolites are biomarkers for sarcopenia. Methods: Associations between the CN metabolites identified from an animal model of sarcopenia and muscle cells and sarcopenia status were evaluated in men from an age-matched discovery (72 cases, 72 controls) and a validation (21 cases, 47 controls) cohort. Results: An association between CN metabolites and sarcopenia showed in mouse and cell studies. In the discovery cohort, plasma C5-CN levels were lower in sarcopenic men (P=0.005). C5-CN levels in men tended to be associated with handgrip strength (HGS) (P=0.098) and were significantly associated with skeletal muscle mass (P=0.003). Each standard deviation increase in C5-CN levels reduced the odds of low muscle mass (odd ratio, 0.61; 95% confidence interval [CI], 0.42 to 0.89). The area under the receiver operating characteristic curve (AUROC) of CN score using a regression equation of C5-CN levels, for sarcopenia was 0.635 (95% CI, 0.544 to 0.726). In the discovery cohort, addition of CN score to HGS significantly improved AUROC from 0.646 (95% CI, 0.575 to 0.717; HGS only) to 0.727 (95% CI, 0.643 to 0.810; P=0.006; HGS+CN score). The improvement was confirmed in the validation cohort (AUROC=0.563; 95% CI, 0.470 to 0.656 for HGS; and AUROC=0.712; 95% CI, 0.569 to 0.855 for HGS+CN score; P=0.027). Conclusion C5-CN, indicative of low muscle mass, is a potential circulating biomarker for sarcopenia in men. Further studies are required to confirm these results and explore sarcopenia-related metabolomic changes.

Background: Sarcopenia, a multifactorial disorder involving metabolic disturbance, suggests potential for metabolite biomarkers. Carnitine (CN), essential for skeletal muscle energy metabolism, may be a candidate biomarker. We investigated whether CN metabolites are biomarkers for sarcopenia. Methods: Associations between the CN metabolites identified from an animal model of sarcopenia and muscle cells and sarcopenia status were evaluated in men from an age-matched discovery (72 cases, 72 controls) and a validation (21 cases, 47 controls) cohort. Results: An association between CN metabolites and sarcopenia showed in mouse and cell studies. In the discovery cohort, plasma C5-CN levels were lower in sarcopenic men (P=0.005). C5-CN levels in men tended to be associated with handgrip strength (HGS) (P=0.098) and were significantly associated with skeletal muscle mass (P=0.003). Each standard deviation increase in C5-CN levels reduced the odds of low muscle mass (odd ratio, 0.61; 95% confidence interval [CI], 0.42 to 0.89). The area under the receiver operating characteristic curve (AUROC) of CN score using a regression equation of C5-CN levels, for sarcopenia was 0.635 (95% CI, 0.544 to 0.726). In the discovery cohort, addition of CN score to HGS significantly improved AUROC from 0.646 (95% CI, 0.575 to 0.717; HGS only) to 0.727 (95% CI, 0.643 to 0.810; P=0.006; HGS+CN score). The improvement was confirmed in the validation cohort (AUROC=0.563; 95% CI, 0.470 to 0.656 for HGS; and AUROC=0.712; 95% CI, 0.569 to 0.855 for HGS+CN score; P=0.027). Conclusion C5-CN, indicative of low muscle mass, is a potential circulating biomarker for sarcopenia in men. Further studies are required to confirm these results and explore sarcopenia-related metabolomic changes.

Objective:To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2).Methods:Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. POLR1D and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. Results:The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband′s mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the POLR1D gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. Conclusions:Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the POLR1D gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.

Objective To investigate the difference of matrix stiffness in different regions of tibial plateau in osteoarthritis (OA) and its effects on morphology of the cartilage and mitochondria. Methods The tibial plateau cartilage specimens of OA were obtained for nanoindentation test, transmission electron microscopy and histological analysis. The stiffness of cartilage matrix in different regions of OA tibial plateau was detected by nano-indentation. The morphology of cartilage mitochondria in different regions was observed by transmission electron microscopy, and the changes of mitochondrial plane area, shape and ridge volume density were quantitatively analyzed. Cartilage injury in different regions of OA tibial plateau was observed by histological staining. Results The cartilage of OA tibial plateau showed regional heterogeneity, and the cartilage and mitochondria on medial side of varus knee OA were more severe, and the matrix stiffness was higher. The OA scores were positively correlated with matrix stiffness. There was also a significant correlation between OA scores and mitochondrial morphology: the higher OA scores, the larger and rounder mitochondrial plane area, and the lower cristae volume density. Conclusions The differences of tibial plateau revealed the correlation between cartilage matrix stiffness, OA scores and mitochondrial morphological parameters. The increased cartilage matrix stiffness may be the main cause of chondrocyte mitochondrial injury, and further aggravate the progression of OA.

ObjectiveTo analyze the reliability and validity of Chinese version of Dysarthria Impact Profile (DIP) in assessment of the psychosocial impact of dysarthria in Parkinson's disease (PD). MethodsFrom May, 2021 to March, 2022, 43 PD patients from Department of Rehabilitation Medicine, the First Affiliated Hospital of Sun Yat-sen University were selected, and 43 age matched healthy controls were enrolled. The process of translation and adaptation was used to develop the Chinese version of DIP, and two groups were evaluated. The internal consistency reliability and intra-rater reliability were analyzed as well as the correlation between each item and its subscale, DIP scores to the Voice Handicap Index (VHI) and 36-item Short Form Health Survey (SF-36). DIP scores of two groups were compared. ResultsThe Cronbach's α was 0.732 to 0.942. The intra-rater correlation coefficient of subsection four was the highest (r = 0.670, P < 0.001). The correlation coefficients were 0.315 to 0.871, which were correlated (P < 0.05), except items 1, 6, 11 of subsection three and item 11 of subsection four. The correlation coefficient between DIP and VHI was -0.821 (P < 0.01), and it was 0.684 (P < 0.01) between DIP and SF-36. DIP scores were significant different between PD patients and the control group (P < 0.01). ConclusionThe Chinese version of DIP shows good reliability and validity, and can be used as a tool to measure the psychosocial impact of dysarthria in PD patients.

Objective: To explore the association between co-consumption of takeaway fast foods and sodas with depressive symptoms among Chinese adolescents, and to provide a reference for reducing the occurence of depression among adolescents. Methods: A multi-center population-based survey was conducted in 32 schools in 4 provinces across China. A total of 14 500 adolescents completed eligible questionnaires. Depressive symptoms were assessed by using Children’s Depression Inventory(CDI), while consumption of takeaway fast foods and sodas was collected using the semi-quantitative Food Frequency Questionnaire(FFQ). Results: 27.26%(3 952/14 500) of adolescents were reported of depressive symptoms. The low, middle, and high-frequency consumption of takeaway fast foods (a OR=1.12, 1.73, 1.56, P<0.05) and sodas (a OR=1.64, 2.17, 3.54, P<0.01) were associated with depressive symptoms, and dose-response relationships were observed in all association(P<0.01). Meanwhile, positive additive interactions were observed in the association(a OR=2.46, P<0.01). The relative excess risk, attribution ratio and the interaction index of synergy was 0.45(0.12-0.77), 0.18(0.06-0.30) and 1.44(1.10-1.89), respectively. Conclusion Co-consumption of takeaway fast foods and sodas significantly associates with depressive symptoms by synergistic effect among Chinese adolescents.

Impulse control disorders including hypersexuality occur occasionally in Parkinson's disease, especially when treated with dopamine agonist. A 62-year-old male with Parkinson's disease was initially treated with rasagiline monotherapy and presented hypersexuality. After 8 weeks of discontinuation of the drug, his hypersexual behavior was significantly improved. To our knowledge, this is the first reported Asian case of a hypersexuality caused by rasagiline. Our observation emphasizes that patients and caregivers need to be educated on the possibility of hypersexuality resulting from rasagiline.
Asian Continental Ancestry Group ; Caregivers ; Disruptive, Impulse Control, and Conduct Disorders ; Dopamine Agonists ; Humans ; Male ; Middle Aged ; Parkinson Disease*

Objective To explore the relationship between optical coherence tomography (OCT) characteristics and peripheral blood leukocyte count in patients with acute myocardial infarction(AMI). Methods A total of 33 patients with AMI hospitalized in Fuwai Hospital for primary percutaneous coronary intervention were consecutively enrolled,and underwent intracoronary OCT procedures after manual aspiration of coronary thrombus. Demographic data, risk factors, procedural and OCT data, past medical history and perioperative laboratory findings were collected in all patients. Results The lymphocyte count,monocyte count and basophil count were significantly higher in the patients with fibrous cap thickness ≥ 65 μm than in those patients with fibrous cap thickness ≤ 65 μm. Patients presenting with cholesterol crystallization had lower eosinophil count than those patients with crystallization-free [(0.04±0.06)×109/L vs.(0.10±0.09) ×109/L,P =0.028]. In addition,the former had significantly higher to neutrophil lymphocyte ratio than the latter [(8.35±6.13)vs.(4.97±2.01), P =0.020]. Higher monocyte count was found in the patients with calcified plaque (P <0.05). Platelet to lymphocyte ratio was significantly increased in the patients with macrophage infiltration [(165.72±85.93)vs.(113.47±19.13),P <0.05]. The leukocyte count,neutrophil count and monocyte count showed the treat of elevation as the number of OCT characteristics increased,but only the elevation of monocyte count had statistical significant level (P = 0.014). Conclusions Peripheral blood leukocyte count seems to be associated with OCT characteristics of plaque rupture in patients with acute myocardial infarction,suggesting the potential role of inflammation in plaque rupture.