Progress of newborn screening in China / 浙江大学学报·医学版

Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects. As of 2022, 31 provinces (autonomous regions and municipalities directly under the central government) have carried out NBS for phenylketonuria, congenital hypothyroidism, and hearing loss, 23 provinces have carried out screening for glucose-6-phosphate dehydrogenase (with a screening rate of 89.24%), and 24 provinces have carried out screening for congenital adrenal cortical hyperplasia (91.45% screening rate). Over the past four decades, screening techniques have evolved from bacterial inhibition, fluorescence analysis, and tandem mass spectrometry for the detection of biochemical markers to genetic testing, which has greatly contributed to the expansion of the types of diseases screened for. The combined use of metabolomics and genomics is currently being explored. Effective management and rigorous quality control of NBS are prerequisites for improving the quality and ensuring the accuracy of screening. The Quality Management System for Newborn Screening System Network (QMS-NBS), established by the National Center for Clinical Laboratories, covers all screening centers and related blood collection agencies. The operation of the QMS-NBS allows the quality and performance of screening to be transparent and measurable, ensuring the quality and efficiency of screening. This article provides an overview of the history of NBS, especially the evolution of policies for the NBS in China, the construction of screening institutions, the number of newborns screened, the incidence rates of screened diseases, the changes in screening technology, the expansion of new diseases screened for, and the quality control of NBS. Overall, the progress in NBS in China has not only benefited from the development and standardization at the technological level, but also benefited from the construction of policies, regulations and ethics.

Protective effect and mechanism of Schisandra chinensis extract on oxidative stress in diabetic nephropathy mice / 中草药

Objective: To investigate the protective effect of Schisandra chinensis extract on oxidative stress in db/db mice, and to explore its possible mechanism. Methods: Ten male 9-week-old db/m mice and ten homologous male db/db mice of the same age were randomly divided into normal control group (C + V group), S. chinensis extract control group (C + SE group), model group (DN + V group), and S. chinensis extract-treated group (DN + SE group), with five mice in each group. The S. chinensis extract control group and S. chinensis extract-treated group were respectively ig administrated with 5 mg/(kg•d) of S. chinensis extract for 6 weeks. The body weight, blood glucose and 24 h urine micro-albumin were recorded at 0, 3, and 6 weeks. After 6 weeks, the mice were sacrificed and their kidney tissue specimens were collected. The oxidative stress index of malondialdehyde (MDA) were examined by lipid peroxidation kit. The pathological changes of kidney tissues were observed by PAS staining. The expression of antioxidant factor Nrf2 and HO-1 protein of kidney tissue was detected by Western Blotting. The expression of Nrf2 and its downstream target genes of kidney tissue were detected by qRT-PCR. Results: Compared with the normal control group, the body weight, blood glucose and 24h urine micro-albumin of the model group were significantly increased and the MDA content were increased. Therefore, the renal tissue pathological damage aggravated, and the expression of Nrf2 and HO-1, as well as its downstream target genes were all down- regulated. (P < 0.01 or P < 0.05). S. chinensis extract reduced blood glucose, 24 h urine micro-albumin and MDA level in diabetic nephropathy mice, improved renal pathological damage, and up-regulated Nrf2 and HO-1 and its downstream target gene expression. (P < 0.01 or P < 0.05). Conclusion: S. chinensis extract has protective effect on oxidative stress injury in db/db mice, and its mechanism may be related to up-regulation of antioxidant factor Nrf2 and its downstream genes.

Clinical and laboratory characteristics of juvenile myelomonocytic leukemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical and laboratory characteristics of juvenile myelomonocytic leukemia (JMML).</p><p><b>METHODS</b>The clinical characteristics and laboratory results were retrospectively analyzed in 10 children with newly diagnosed JMML. They were compared with those of 28 children with myelodysplastic syndrome (MDS) and 44 children with chronic myeloid leukemia (CML).</p><p><b>RESULTS</b>Compared with the children with CML or MDS, the children with JMML had significantly higher rates of skin rashes, ecchymosis, and lymphadenectasis, a significantly lower serum cholinesterase (ChE) level, and a significantly higher fetal hemoglobin level (P<0.05). The white blood cell count of children with JMML was significantly higher than that of children with MDS, but significantly lower than that of children with CML (P<0.05). In addition, the myeloid/erythroid ratio and rate of dyshaematopoiesis were significantly lower in children with JMML than those in children with CML or MDS. The children with JMML had a significantly higher expression of mature monocyte marker CD14 than those with CML or MDS (P<0.05). The levels of myeloid markers CD33, CD11b, CD13, and CD15 in children with JMML were significantly higher than those in children with MDS, but significantly lower than those in children with CML (P<0.05). The levels of CD2 and CD7 in children with JMML were higher than those in children with CML, but lower than those in children with MDS (P<0.05).</p><p><b>CONCLUSIONS</b>Skin rashes, ecchymosis, lymphadenectasis, and ChE reduction are more common in children with JMML than in those with CML or MDS, while dyshaematopoiesis is less common. In addition, CD14 level increases significantly in children with JMML.</p>

Study on mRNA and protein expressions of organic anion transporting polypeptide (oatp2b1) in rats with high fat diet and overstrain induced Pi deficiency syndrome / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To explore roles of mRNA and protein expressions of organic anion transporting polypeptide (oatp2b1) of rats with high fat diet and overstrain induced Pi deficiency syndrome in the transporting of damp turbidity.</p><p><b>METHODS</b>Totally 24 SD rats were randomly divided into three groups, i.e., the normal group, the overstrain group, and the high fat diet group, 8 in each group. After successful modeling, one piece of tissues such as spleen, kidney, liver, lung, stomach, small intestine, and large intestine was taken from each rat. Rats of the overstrain group were bonded by specially made bondage cylinder, 3 h each time on odd days, and forced to swim in cold water (10 +/- 1) degrees C for 7 min on even days alternatively for twelve weeks. Rats in the model group and the normal group were fed with standard routine granular forage for 12 weeks. Rats in the high fat diet group were fed with high fat forage for twelve weeks. All rats drank and ate freely. The mRNA and protein expressions of oatp2b1 were detected in the seven tissues using RT-PCR and Western blot.</p><p><b>RESULTS</b>The mRNA expression of oatp2b1 in liver and kidney tissues of rats in the high fat diet group was higher when compared with that of the normal group and the overstrain group (P < 0.01, P < 0.05). The oatp2b1 mRNA expression in the normal group was sequenced from high to low as liver > lung > spleen > larger intestine > small intestine > kidney > stomach. The oatp2b1 mRNA expression in the overstrain group was sequenced from high to low as liver > lung > larger intestine > spleen > kidney > stomach > small intestine. The oatp2b1 mRNA expression in the high fat diet group was sequenced from high to low as liver > lung > spleen > small intestine > kidney > larger intestine > stomach. The oatp2b1 protein expression in the lung tissue was sequenced from high to low as the overstrain group > the normal group > the high fat diet group (P > 0.05). The oatp2b1 protein expression in the spleen tissue was sequenced from high to low as the high fat diet group > the normal group > the overstrain group (P > 0.05). The oatp2b1 protein expression in the kidney tissue was sequenced from high to low as the normal group > the overstrain group > the high fat diet group (P > 0.05). The oatp2b1 protein expression in the liver tissue was sequenced from high to low as the normal group > the high fat diet group > the overstrain group (P > 0.05). Of them, the oatp2b1 protein expressed extremely less in the stomach, large intestine, and small intestine. The oatp2b1 protein expression in the normal group was sequenced from high to low as lung >spleen > liver, kidney > stomach, larger intestine, and small intestine. The oatp2b1 protein expression in the overstrain group was sequenced from high to low as lung > spleen > kidney > liver > stomach, larger intestine, and small intestine. The oatp2b1 protein expression in the high fat diet group was sequenced from high to low as spleen > lung > kidney > liver > stomach, larger intestine, and small intestine. However, there was no statistical significance among the three groups by pair-wise comparison (P > 0.05).</p><p><b>CONCLUSIONS</b>Kidney and liver might play important roles in the transportation and transformation of damp under the state of Pi deficiency syndrome. Oatp2b1 may be one of the material bases involved in the transportation and transformation of damp turbidity. Pi's function of governing transportation and transformation of damp might not only include the functions of the gastrointestinal tract, but also include partial liver and kidney functions.</p>

Association between mannose-binding lectin and the sensitivities of common infections in children / 中华微生物学和免疫学杂志

Objective To investigate the association between genetic polymorphisms and protein levels of mannose-binding lectin (MBL) and the sensitivities of common infections in a pediatric Han population lived in Zhejiang Province.Methods MBL genetic polymorphisms of patients and controls were detected by PCR-based sequencing.MBL protein levels were measured using MBL ELISA Kit.Results No mutations at positions +223 and +239 of the exon 1 were detected in either patients or controls.No mutation at position +4 of the promoter was detected in controls.The frequencies of the three genotypes HH,HL,and LL at position-550 of the promoter were different between patients and controls(P＜0.05).The frequencies of genotypes YA and XB relevant to MBL protein levels were also different between patients and controls(P＜0.05).Comparing the frequencies of genotypes YA and XB in separate infectious disease with controls,significant differences were found in the group of RRI and CMV infection.The distributions of serum MBL level frequencies in patients and controls were both characterized by skewed distributions.MBL levels of patients with CMV infection were lower than those of controls(P＜0.05).Inversely,MBL levels of patients with acute respiratory infection and localized abscess were higher than those of controls (P＜O.05).Conclusion Genetic polymorphism of MBL gene is seemed to be relative to the sensitivity of common infections in children.