Degradation of myosmine by a novel bacterial strain Sphingopyxis sp. J-6 and its degradation pathways.

This study isolated a myosmine-degrading bacterial strain J-6 from tobacco-growing soil. The identification of this strain revealed it to be a new species within the genus Sphingopyxis. Analysis of the myosmine degradation products by HPLC, preparative HPLC, and UHPLC-MS/MS identified 8 metabolites, among which 3-pyridylacetic acid (3-PAA), 5-(3-pyridyl)tetrahydrofuranone-2 (PTHF), and 4-hydroxy-4-(3-pyridyl)butanoic acid (HPBA) were three novel metabolites that were not previously found in microbial degradation of tobacco alkaloids.

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.

Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys.

Clinical variables and genetic variants associated with perioperative anaphylaxis in Chinese Han population: A pilot study.

Background: Perioperative anaphylaxis (POA) can lead to severe consequences. Identifying clinical risk factors and genetic loci associated with POA through pre-prescription screening may help reduce its incidence.

Methods: Using univariate regression and covariate-adjusted multivariate regression, we retrospectively analyzed the association between clinical characteristics and POA in 72 POA patients and 72 non-POA individuals.

Genetic variants in the HLA region contribute to the risk of cerebral palsy.

Cerebral palsy (CP) is the most common physical disability in childhood, and genetic factors play an important role in its pathogenesis. However, the genetic contributions remain incompletely elucidated. Here, we conducted a two-stage association study between 1090 CP cases and 1100 healthy controls after whole exome sequencing.

Targeting the metabolic profile of amino acids to identify the key metabolic characteristics in cerebral palsy.

Background: Cerebral palsy (CP) is a neurodevelopmental disorder characterized by motor impairment. In this study, we aimed to describe the characteristics of amino acids (AA) in the plasma of children with CP and identify AA that could play a potential role in the auxiliary diagnosis and treatment of CP.

Methods: Using high performance liquid chromatography, we performed metabolomics analysis of AA in plasma from 62 CP children and 60 healthy controls.

An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population.

Background: Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has shown that cytokine abnormalities are widely thought to contribute to CP.

Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.

Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the gene on chromosome 4q28. Almost all reported mutations of in CLN7 patients were SNVs.

The Association Study of Polymorphisms With Cerebral Palsy in Chinese Population.

Cerebral palsy (CP) is a syndrome of non-progressive motor dysfunction caused by early brain development injury. Recent evidence has shown that immunological abnormalities are associated with an increased risk of CP. We recruited 782 children with CP as the case group and 770 healthy children as the control group.

Autophagy-Related Gene 7 Polymorphisms and Cerebral Palsy in Chinese Infants.

Cerebral palsy (CP) is a group of non-progressive motor impairment syndromes that are secondary to brain injury in the early stages of brain development. Numerous etiologies and risk factors of CP have been reported, and genetic contributions have recently been identified. Autophagy has an important role in brain development and pathological process, and autophagy-related gene 7 () is essential for autophagosome biogenesis.

HLA-A*24:02 is associated with metronidazole-induced cutaneous adverse drug reactions in Han Chinese individuals: A pilot case-control study with both HLA gene and T cell receptor repertoire analysis.

Metronidazole, a widely used drug for the treatment of infections with anaerobic and facultative anaerobic bacteria and protozoa, can frequently cause metronidazole-induced cutaneous adverse reactions (McADRs). The aim of the present study was to investigate the association between human leucocyte antigen (HLA) alleles and McADRs in a Chinese Han population. The frequency of HLA-B*24:02 carriers among the McADR patients was 73.