Search

Simple Summary: Père David's deer (Elaphurus davidianus) are classified as extinct in the wild from the International Union for Conservation of Nature Red List. In 2021, there were more than 6000 individuals in Dafeng Reserve, China. With the increasing of population size for Père David's deer in Dafeng Reserve, it is urgently needed to conduct disease research in order to protect this animal better. Diarrhea is one of the most common diseases affecting the health of Père David's deer. However, little is known about how the intestinal ecology changes in these diarrheic animals. The aim of this study is to reveal the changes of intestinal microbiome and metabolic pathways in diarrheic Père David's deer based on gut microbiome and metabolic pathways. Using 16S rRNA gene sequencing and ultra-high performance liquid chromatography combined with tandem mass spectrometry, the gut microbiota and fecal metabolites were analyzed in five diarrheic Père David's deer. Results demonstrated the distinct changes in the diversity and composition of gut microbiota, as well as great changes in numerous fecal metabolic profiles in diarrheic Père David's deer. The integrated pathway analysis revealed serious disturbances in several metabolic pathways, such as lipid, bile acid, cofactor and vitamin metabolism. These data provided important gut ecology information for diarrheic Père David's deer, which may facilitate improved diagnostic and treatment strategies for sick animals in the future. Diarrhea is one of the most common diseases affecting the health of Père David's deer (Elaphurus davidianus). It is believed that an imbalanced intestinal ecology contributes to the etiology of the condition. However, little is known about how the intestinal ecology changes in these diarrheic animals. In this study, 16S rRNA gene sequencing and ultra-high performance liquid chromatography combined with tandem mass spectrometry (UPLC-MS/MS) were used to investigate the gut microbiota and fecal metabolites in five Père David's deer with diarrhea. The results showed that when compared with healthy individuals, considerable changes in the gut microbiome were observed in diarrheic animals, including a significant reduction in microbial diversity and gut microbiota composition alterations. Furthermore, the profiles of numerous fecal metabolites were altered in diarrheic individuals, showing large-scale metabolite dysregulation. Among metabolites, acylcarnitines, lysophosphatidylcholine, bile acids, and oxidized lipids were elevated significantly. Constantly, several metabolic pathways were significantly altered. Interestingly, predicted metabolic pathways based on 16S rRNA gene sequence and differential metabolite analysis showed that lipid metabolism, cofactor, and vitamin metabolism were altered in sick animals, indicating microbiota-host crosstalk in these deer. When combined, the results provide the first comprehensive description of an intestinal microbiome and metabolic imbalance in diarrheic Père David's deer, which advances our understanding and potential future treatment of diarrheic animals. [ABSTRACT FROM AUTHOR]

Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation that occurs due to mutations in the SLC25A20 gene. Severe CACTD results in neonatal or infantile sudden death. Herein, we reported six patients with CACTD diagnosed based on biochemical and molecular findings from 5 unrelated families in Guangdong from 2016 to 2017. Among them, five patients presented with hypotonia, nonketotic hypoglycemia, and arrhythmia 2 days after birth, while the other patient presented with respiratory distress, hypotonia, and arrhythmia. Five of the patients died in the neonatal period. Blood acylcarnitine concentrations determination from dried blood spots (DBS) were measured by tandem mass spectrometry (MS/MS). The SLC25A20 and CPT2 gene sequences were analyzed by direct Sanger sequencing. SLC25A20 gene analysis revealed a c.199-10T>G (IVS2-10T>G) homozygous variants in four unrelated patients and a novel mutation c.199-10T>G/c.719-8_c.719-1dupCCCACAG compound heterozygous variants in twins. This report describes the clinical characteristics, biochemical findings and molecular analysis of SLC25A20 gene of patients with CACTD in Guangdong. And our results show that the c.199-10T>G is likely the most common variant of CACTD in Guangdong population as it accounts for 83% (10/12) of the observed mutant alleles. Individuals with the c.199-10T>G genotype had a severe CACTD phenotype. • We reported six patients with CACTD diagnosed based on biochemical and molecular findings from 5 unrelated families in Guangdong and shared their meaningful family history. • We identified a novel c.719-8_c.719-1dupCCCCACAG variant that probably affects the splicing predicted by several in silico prediction tools. • The diagnostic process of CACTD was summarized based on clinical analysis and literature review in order to provide effective reproductive counseling to couples. [ABSTRACT FROM AUTHOR]

Background: Aging is an acknowledged risk factor for most chronic diseases and functional impairments. The practicability of potential biomarkers of aging remains unsure. Moreover, biomarkers related to certain geriatric diseases, such as carotid atherosclerosis and multiple co-morbidities are less understood. The purpose of this study was to investigate the definite relationship between metabolic biomarkers and aging-related diseases.Methods: Eighty-five male adults aged fifty years or older from the general population were enrolled. Plasma metabolic biomarkers, including fourteen amino acids and thirty-six acylcarnitines, were measured by liquid chromatography mass spectrometry. Bivariate correlation analysis was employed to estimate the correlations between variables and age, and also to evaluate the relationship between metabolic biomarkers and aging-related diseases. Receiver operating characteristic (ROC) curve was conducted to judge the diagnostic efficiency of potential metabolic biomarkers for co-morbidities.Results: Certain metabolic biomarkers were strongly positively correlated with age, such as tetradecenoylcarnitine (C14:1), microalbumin-urine creatinine ratio (UACR), dodecenoylcarnitine (C12:1) and citrulline (p < 0.001). Carotid atherosclerosis and co-morbidities were positively correlated with aging (p < 0.001). After adjustment for age, hydroxytetradecanoylcarnitine (C14OH) remained positively correlated with carotid plague area. Besides, citrulline had diagnostic power for co-morbidities.Conclusions: Citrulline may be a promising metabolic biomarker in the middle-aged and elderly men. Larger-scale and long-term studies are needed to confirm our findings. [ABSTRACT FROM AUTHOR]