Metal(loid) uptake and physiological response of Coix lacryma-jobi L. to soil potentially toxic elements in a polluted metal-mining area.

Coix lacryma-jobi L. is a traditional medicinal plant in east Asia and is an important crop in Guizhou province, southwest China, where there are elevated levels of soil mercury and arsenic (As). Exposure to multiple potentially toxic elements (PTEs) may affect plant accumulation of metal(loid)s and food safety in regions with high geological metal concentrations.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Objectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.

Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.

[Therapeutic effects on cerebral white matter injury of premature infants treated with acupuncture for promoting the governor vessel and tranquilizing the mind].

Objective: To explore the repair effects of acupuncture for promoting the governor vessel and tranquilizing the mind (acupuncture technique) on cerebral white matter injury of premature infants.

Methods: A total of 56 cases of cerebral whiter matter injury of premature infants, the fetal age less than 35 weeks were selected and randomized into an observation group (27 cases) and a control group (29 cases). The routine basic rehabilitation therapy was used in the two groups.

[Clinical application of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy].

Objective: To verify the reliability of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control for clinical testing.

Methods: Thirty-five patients, 61 first-degree relatives, 61 healthy controls and 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe amplification (MLPA) were tested with Roche LightCycler 480 and Bio-Rad CFX96 (TM) real-time PCR machines for relative quantification of copy number of SMN1 exon 7.

Results: Genotyping detected by relative quantitative real-time PCR were consistent with the results of MLPA.