A Pilot Study on Plasma and Urine Neurotransmitter Levels in Children with Tic Disorders.

BACKGROUND: Tic disorders (TDs), including Tourette syndrome, are childhood-onset neuropsychiatric disorders characterized by motor and/or vocal tics that commonly affect children's physical and mental health. The pathogenesis of TDs may be related to abnormal neurotransmitters in the cortico-striatal-thalamo-cortical circuitry, especially dopaminergic, glutamatergic, and serotonergic neurotransmitters. The purpose of this study was to preliminarily investigate the differences in the three types of neurotransmitters in plasma and urine between children with TD and healthy children. METHODS: We collected 94 samples of plasma and 69 samples of urine from 3-12-year-old Chinese Han children with TD before treatment. The plasma and urine of the same number of healthy Chinese Han children, matched for age and sex, participating in a physical examination, were collected. Ultra-performance liquid chromatography-tandem mass spectrometry was used to detect the three types of neurotransmitters in the above samples. RESULTS: The plasma levels of norepinephrine, glutamic acid, and γ-aminobutyric acid, and the urine levels of normetanephrine and 5-hydroxyindoleacetic acid were higher in the TD children than in healthy children. The area under the curve (AUC) values of the above neurotransmitters in plasma and urine analyzed by receiver operating characteristic curve analysis were all higher than 0.6, with significant differences. Among them, the combined AUC of dopamine, norepinephrine, normetanephrine, glutamic acid, and γ-aminobutyric acid in the 8-12-year-old subgroup was 0.930, and the sensitivity and specificity for TD were 0.821 and 0.974, respectively (p = 0.000). CONCLUSIONS: There are differences in plasma and urine neurotransmitters between TD children and healthy children, which lays a foundation for further research on the pathogenesis of TD.

The first case report of McLeod syndrome in an infant with a novel mutation (c.89C>A, p. Ser30X) in XK.

McLeod syndrome (MLS) is a rare multisystem disorder and X-linked recessive inheritance disorder caused by mutations of the X-linked Kx blood group (XK) gene. The manifestations progress slowly and mainly appear in middle age, which make it difficult to distinguish MLS from other neuromuscular disorders. Here, we present a case of a 10-month-old Chinese boy who was taken to hospital for herpes of the extremities and oral cavity along with febrile seizures in June 2017. The laboratory test revealed persistent elevated levels of serum creatine phosphokinase and abnormal liver function. The results of the electrocardiogram showed sinus tachycardia, and magnetic resonance imaging of the brain showed enlarged bilateral ventricles and third ventricle. Genetic analysis by next-generation sequencing revealed a novel nonsense mutation c.89C > A (p. Ser30X) in exon 1 of XK. To the best of our knowledge, this is the first case report of infants with MLS confirmed by genetic analysis.

[Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].

The purpose of this study is to analyze the family's clinical data of 22 children who were given an intended clinical diagnosis of Duchenne muscular dystrophy (DMD), and to explore the clinical value of next-generation sequencing (NGS) in the molecular diagnosis of DMD. The probands were simultaneously tested by NGS for a gene panel associated with hereditary neuromuscular disease and multiplex ligation-dependent probe amplification (MLPA) for the Dystrophin gene. The exon deletion/repetition mutations of the Dystrophin gene determined by both methods were compared and the point mutations of the Dystrophin gene were verified by Sanger sequencing. Dystrophin gene mutations were found in all the 22 probands, including 14 exon deletion/repetition mutations and 8 point mutations/minor variations. The results of MLPA detection were consistent with those of NGS. The results of Sanger sequencing showed that the point mutations and minor variations determined by NGS were correct. One missense mutation (c.6290G>T), 1 nonsense mutation (c.3487C>T) and 4 minor deletion-induced frameshift mutations (c.1208delG, c.7497_7506delGGTGGGTGAC, c.9421_9422delAA and c.8910_8913delTCTC) had not been reported in the Human Gene Mutation Database, and thus were considered as novel mutations of the Dystrophin gene. The results of this study showed that NGS can detect variations in the Dystrophin gene, including exon deletion/repetition, point mutation, minor deletion and intron mutation. Therefore, NGS is of certain clinical value in the molecular diagnosis of DMD and is worthy of recommendation.

Elevated interictal serum galectin-3 levels in intractable epilepsy.

BACKGROUND: Intractable epilepsy is defined as the occurrence of seizures that cannot be controlled with medical treatment. The discovery of epilepsy biomarkers is increasingly attracting more attention from both clinical physicians as well as neuroscientists. Increased levels of soluble and/or cellular galectin-3 (Gal-3) have been associated with various diseases. However, the effects of Gal-3 in epilepsy are still unknown. In this study, we evaluated the association of higher interictal serum Gal-3 protein levels in patients diagnosed with intractable epilepsy. PATIENTS AND METHODS: A group of 38 patients with intractable epilepsy and 26 healthy age-matched control subjects were included in this study. A commercially available electrochemiluminescence immunoassay (ECLIA) kit was used to determine serum Gal-3 protein levels. RESULTS: Our results indicated that serum Gal-3 protein level in the patient group was 6.67 ± 0.34 ng/ml, and in the age-matched control group was 5.40 ± 0.34 ng/ml. The difference between the two groups was found to be statistically significant (P = 0.003). CONCLUSION: This study found a detectable elevation in serum Gal-3 concentration in patients with focal epilepsy. Given its secretory nature and detectable levels in the serum, Gal-3 could be a potential biomarker for intractable epilepsy.