Newborn screening for primary carnitine deficiency in Quanzhou, China.

BACKGROUND AND AIMS: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by functional defects in the carnitine transporter OCTN2 due to mutations in SLC22A5. Here, we aimed to understand the incidence, clinical, biochemical, and molecular features of PCD in Quanzhou, China. MATERIALS AND METHODS: Newborn screening (NBS) was performed through tandem mass spectrometry (MS/MS) to detect genetic metabolic diseases. Next-generation sequencing was used to detect SLC22A5 mutations in patients with suspected PCD. RESULTS: From 364,545 newborns screened, 36 were diagnosed with PCD, in addition to five mothers. The incidence of PCD in children in the Quanzhou area was 1:10126. Eighteen SLC22A5 variants were found, with five novel ones. The most prevalent variant in neonatal and maternal patients was c.760C > T (p.R254*). Twenty-five neonatal patients received L-carnitine supplementation; however, one patient discontinued treatment and sudden death occurred. One sibling presented repeated fatigue, hypoglycemia, and coma, but the symptoms disappeared after treatment. Two mothers with PCD claimed to feel weak and easily fatigued. CONCLUSION: The incidence of PCD is relatively high in the Quanzhou area. Five novel variants were found, broadening the mutation spectrum of SLC22A5. NBS is effective in identifying PCD, and sudden death may be prevented with timely treatment.

Rapid authentication of Pseudostellaria heterophylla (Taizishen) from different regions by near-infrared spectroscopy combined with chemometric methods.

Pseudostellaria heterophylla is a very popular traditional Chinese medicine herb, also called "Taizishen." Discrimination of P. heterophylla from different regions is critical for ensuring the effectiveness of drug use, because the drug effects of P. heterophylla from different regions are diversity of each other. To discriminate P. heterophylla from different regions rapidly and effectively, a model extracted by competitive adaptive reweighted sampling (CARS) was established. Original spectra of P. heterophylla in wave number range of 10,000 to 4,000 cm-1 were acquired. Orthogonal partial least squares discriminant analysis (OPLS-DA) was also used to establish a suitable model. CARS was performed for extracting key wave number variables. We found that the near-infrared spectrum of a series of samples analyzed by Row-center-SG, CARS, and OPLS-DA can effectively distinguish the P. heterophylla from different regions, and the accuracy of OPLS-DA model is also satisfactory in terms of good discrimination rate. These results show that the Row-center-SG, CARS, and OPLS-DA model can be used to identify the P. heterophylla from different regions. PRACTICAL APPLICATION: According to our research results, we can draw a conclusion that our research results may be used to distinguish the traditional Chinese medicine from those from different places of origin and the powder with similar appearance.

Neuroprotective effects of salidroside on focal cerebral ischemia/reperfusion injury involve the nuclear erythroid 2-related factor 2 pathway.

Salidroside, the main active ingredient extracted from Rhodiola crenulata, has been shown to be neuroprotective in ischemic cerebral injury, but the underlying mechanism for this neuroprotection is poorly understood. In the current study, the neuroprotective effect of salidroside on cerebral ischemia-induced oxidative stress and the role of the nuclear factor erythroid 2-related factor 2 (Nrf2) pathway was investigated in a rat model of middle cerebral artery occlusion. Salidroside (30 mg/kg) reduced infarct size, improved neurological function and histological changes, increased activity of superoxide dismutase and glutathione-S-transferase, and reduced malon-dialdehyde levels after cerebral ischemia and reperfusion. Furthermore, salidroside apparently increased Nrf2 and heme oxygenase-1 expression. These results suggest that salidroside exerts its neuroprotective effect against cerebral ischemia through anti-oxidant mechanisms and that activation of the Nrf2 pathway is involved. The Nrf2/antioxidant response element pathway may become a new therapeutic target for the treatment of ischemic stroke.

A split G-quadruplex and graphene oxide-based low-background platform for fluorescence authentication of Pseudostellaria heterophylla.

A label-free split G-quadruplex and graphene oxide (GO)-based fluorescence platform has been designed to distinguish Pseudostellaria heterophylla (PH) from its adulterants based on the differences in their nrDNA ITS sequences. Herein, GO has been first introduced to capture G-rich probes with 2:2 split mode and then decrease the background signal. As T-DNA exists, the probes leave the GO surface to form double-stranded structures followed by the formation of the overhanging G-rich sequence into a G-quadruplex structure, which combines quinaldine red specifically to produce a strong fluorescence signal. In addition, this strategy allows detection of T-DNA in a wide range of concentrations from 1.0 × 10(-8) to 2.0 × 10(-6) mol·L(-1) with a detection limit of 7.8 × 10(-9) mol·L(-1). We hope that the split G-quadruplex/GO platform can be utilized to further develop gene identification sensors in Traditional Chinese Medicine or other analysis areas.

Hypoglycemic effect of polysaccharides with different molecular weight of Pseudostellaria heterophylla.

BACKGROUND: The aims of this study were to evaluate the antidiabetic activity and to detect molecular size of Pseudostellaria heterophylla polysaccharide (PHP). Pseudostellaria heterophylla is a medicine extensively used in traditional Chinese medicine formulas to treat diabetes and its complications. METHODS: Molecular weight of PHP was determined by gel permeation chromatography combined with phenol-sulphuric acid method and the monosaccharides composition was determined by HPLC with a precolumn derivatization. Four polysaccharides with different molecular weight were compared for hypoglycemic active on two animal models both high does alloxan induced type1 diabetic mellitus (T1DM) and high-fat/lower does streptozotocin induced type2 diabetic mellitus (T2DM). Blood sugar, glucose tolerance, and insulin tolerance were detected. Rat serum IL-1ß, IL-2, IL-10, Leptin, TNF-α, Acrp30 and CRP were also analyzed by sandwich-ELISA approaches to preliminary probe the hypoglycemic mechanism of PHP. RESULTS: The hypoglycemic effects related to molecular size of polysaccharide were more effective against T2DM than T1DM. PHP comprise four monosaccharides of galacturonic acid, glucose, galactose and arabinos. T2DM rats daily receiving oral dose of polysaccharide(100 ~ 400 mg/kg) with 50 ~ 210 kDa molecular weight (PF40) could not only significantly lower blood sugar but also reduce total triglyceride level in serum. PF40 improves in insulin tolerance inhibited the expression of some biomarkers including inflammatory cytokine TNF-α and elevated anti-inflammatory cytokine IL-10, regulated adiponectin Acrp30 and leptin. CONCLUSIONS: PF40 prevent the cascade of inflammatory events in the treatment of T2DM to block overweight progresses to obesity.