Search

Using ultra-high performance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-QTOF-MS), we separated and identified 148 non-volatile organic compounds including flavonoids, organic acids and amino acids in navel orange pulp in 37 min. The volatile organic compounds (VOCs) in the pulp of navel oranges from four major production regions in southern Jiangxi Province, Ruijin, Xinfeng, Anyuan and Nankang were detected by headspace solid phase microextraction combined with gas chromatography-mass spectrometry (HS-SPME-GC-MS). In total, 97 VOCs were identified including esters, alcohols, aldehydes and terpenes. The results of this study provide detailed data for further research on chemical substances in the pulp of Gannan navel oranges.

Background: Mitochondrial diseases are clinically heterogeneous, can occur at any age, and can manifest with a wide range of clinical symptoms. They can involve any organ or tissue, characteristically involve multiple systems, typically affecting organs that are highly dependent on aerobic metabolism, and making a definitive molecular diagnosis of a mitochondrial disorder is challenging. Methods: Clinical data of the proband and his family members were gathered in a retrospective study. Whole-exome sequencing and full-length sequencing of the mitochondrial genome that were performed on peripheral blood, urine, and oral mucosa cells were applied for genetic analysis. Results: In this study, we reported a childhood-onset mitochondrial phenotype in a 13-year-old patient. Analysis of the next-generation sequencing data of the nuclear genome and the full-length sequencing of the mitochondrial genome revealed the rare m.10000G>A variant in MT-TG that was present at variable heteroplasmy levels across tissue types: 32.7% in the blood, 56.15% in urinary epithelial cells, and 27.3% in oral mucosa cells. No variant was found in the peripheral blood of his mother and sister. No pathogenic mutation of nDNA was found. Conclusion: Our results added evidence that the de novo m.10000G>A variation in the highly conserved sequence of MT-TG appears to suggest a childhood-onset mitochondrial phenotype in the 13-year-old patient, thus broadening the genotypic interpretation of mitochondrial DNA-related diseases. [ABSTRACT FROM AUTHOR]

Background: The aim of the study was to identify the post-traumatic growth status and influencing factors of parents with children with Duchenne muscular dystrophy (DMD). Methods: We adopted a cross-section survey study. Between February and December 2022, 181 parents responded to the survey including a participants' characteristics section, post-traumatic growth assessment scale, caregiver burden scale, and social support assessment scale. Multiple linear regression analysis was used to investigate influencing factors of post-traumatic growth. Results: The mean score of post-traumatic growth of parents was 56.66 (SD ± 18.67). Post-traumatic growth was positively correlated with social support (r = 0.452, P < 0.01) and negatively correlated with care burden (r = -0.207, P < 0.01). Multiple linear regression showed that the child's age, course of disease, self-care ability, parent's working condition, residence, education, number of children, and health status were the main influencing factors for the post-traumatic growth of parents (P < 0.001). Conclusion: The post-traumatic growth of parents with children with DMD was at a moderate level. Healthcare professionals should pay attention to the psychological state of parents with children with this rare disease and promote post-traumatic growth through psychological mindfulness interventions, strengthening family and social support, and providing care knowledge and skills. [ABSTRACT FROM AUTHOR]

Objective: HCN ion channel family has a widespread expression in neurons, and recently, increasing studies have demonstrated their roles in epilepsies., Methods: Clinical data of the patients were gathered in a retrospective study. Exon sequencing was used for the patients with unexplained recurrent seizures and varying levels of developmental delay., Results: In this study, eight de novo variants of HCN1 genes were uncovered in eight patients, including six missense variants, one nonsense variant and one frameshift insertion variant; five of them were reported for the first time. The onset age for eight patients ranges from one month to one year. Their main clinical manifestations are epilepsy and varying degrees of developmental delay, and the main type of seizure is focal secondary generalized tonic-clonic seizure. Importantly, in our study, one case presented with a form of migrating focal seizure that has not been reported in the literature. Seizures from five of the eight children were effectively controlled with antiepileptic drugs including valproic acid, levetiracetam and oxcarbazepine. One child developed normally and four children developed mild delay. One child was treated with topiramate, and the convulsion was partially controlled and showed moderate to severe developmental delay. The antiepileptic treatment failed for the other two children, and the two children were treated with sodium valproate, oxcarbazepine, lamotrigine, chlorbazan, levetiracetam and nitrodiazepam successively, but their convulsions were not controlled and showed moderate to severe developmental delay., Significance: Our research reported eight variants in HCN1 gene causing epilepsy; among these variants, five variants were never reported before. HCN1-related epilepsy usually starts infantile period, and focal secondary generalized tonic-clonic seizure is the most common seizure type. Importantly, we reported the case with migrating focal seizure was rarely reported. Our study expanded both genotype and phenotype for HCN1-related epilepsy., (© 2023 International League Against Epilepsy.)

Alpha-dystroglycanopathy (α-DGP) is a group of congenital muscular dystrophy and limb band muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (α-DG). At present, there are few studies on the clinical manifestations, genetic characteristics, and diagnostic methods for α-DGP in China. Two cases of α-DGP caused by POMT1 and POMT2 gene mutations in the protein O-mannosyltransferases (PMTs) family were admitted to the Department of Pediatrics, Xiangya Hospital, Central South University. The 2 patients showed exercise retardation, with or without mental retardation. Serum level of creatine kinase (CK) was increased significantly. Electromyography showed myogenic impairment. Muscle biopsy was consistent with myopathy. Genetic test showed that both patients had compound heterozygous mutations, and the parents of the 2 patients were heterozygous with one of the mutations. There were c.824+1G>A, splicing and c.1777G>A, p.A593T in POMT1 gene, and c.604T>G, p.F202V and c.868C>T, p.P290S in POMT2 gene. The online database was used to predict the mutation sites and suggested the pathogenicity. Finally, one patient was diagnosed as congenital muscular dystrophy with mental retardation (CMD-MR) and the other was dystrophytype 2N (LGMD2N). PMTs family has similar sequences. Gene mutations can lead to different degrees of muscular dystrophy with the increase of serum level of CK. α-DG is easy to be misdiagnosed. Genetic examination is beneficial to early diagnosis, prognosis, and genetic counseling.