Abstract: Objective　To report the clinical characteristics and genetic test results of two children with neurofibromatosis type 1 (NF1), and to provide reference for the comprehensive diagnosis-treatment and follow-up plans of NF1 patients based on the existing diagnosis and treatment progress of NF1. Methods　Two children with NF1 admitted to the Department of Children's Medicine, Haikou people's Hospital in May and June 2022 were selected to analyze the clinical data of their clinical manifestations, laboratory examination, genetic test results, diagnosis and treatment and follow-up retrospectively. Results　Two children had typical clinical manifestations, such as café-au-lait spots, axillary freckles, intraocular iris hamartoma. Venous blood was collected from case 1 and his parents for NF gene test, and a new mutation of c.4084C>T in the NF1 gene was found, and their parents did not have the pathogenic gene; the venous blood of the children in case 2 was tested for whole-exome gene analysis, and a heterozygous nonsense variant c.910C>T:p.R304 on the NF1 gene was found, , which was verified by Sanger sequencing to be inherited from his mother, his mother has café-au-lait spots and brain glioma, and has undergone surgery to remove the brain glioma, but has not undergone chemoradiotherapy or targeted therapy. No neurological malignancies were detected in either of the two children at follow-up until July 2022. Conclusions　The clinical manifestations of NF1 are relatively typical, genetic testing is conducive to determine its classification, and regular follow-up review can help to detect and treat malignant tumors early, thus improving the patient's quality of life.

Objective To provide decision-making information for the spread of techniques that improve the quality of neonates. Methods A systematic study was made of the political, technical, economic and social viability of neonatal disease screening in China by means of economic and policy evaluation, sociological analysis, and statistical analysis. Results Neonatal disease screening was conducted in 29 provinces throughout the country. However, there was a great difference between the provinces in screening coverage. In order to strengthen control, 16 provinces issued methods or regulations concerning neonatal disease screening. Since the Ministry of Health did not issue relevant control methods that would standardize the responsibilities of the organizations undertaking the screening, problems affecting the safety and effectiveness of neonatal disease screening became increasingly prominent. Conclusion It is necessary and viable to conduct neonatal disease screening in China. But macro control of the work by the government needs to be reinforced. The Ministry of Health ought to issue as soon as possible methods for controlling neonatal disease screening and relevant technical criteria. At the same time publicity of the work needs to be strengthened in society so as to give it impetus throughout the country.

Adolescent ; Adult ; Barium ; poisoning ; Chronic Disease ; Female ; Humans ; Male ; Middle Aged ; Occupational Diseases ; diagnosis ; therapy ; Retrospective Studies ; Young Adult

Objective To study the effect of mechanical tension on collagen arrangement and illustrate the relationship between tissue architecture and tension properties. Methods Cell morphologies, orientation and collagen arrangement of fibroblasts cultured in three different types of collagen gels with variation of mechanical tension were observed by phase contrast photomicrographs, light microscopy and transmission electron microscopy. Expression and distribution of a-smooth muscle actin (α-SMA) were investigated by immunohistochemistry. Results Phase contrast photomicrographs, light microscopy and transmission electron microscopy showed high level of tension distributed anisotropically in the monolayer gels and the anchored collagen gels, with bipolar shape of the fibroblasts, obvious polarity, arrangement of exogenous collagen fibres parallel to the long axis of the fibroblasts, especially prominent in monolayer gels. Low level of tension distributed isotropically was observed in floating collagen gels, with stellate morphology and arrangement of exogenous collagen fibres in a reticular array. Immunofluorescence showed that fibroblasts expressed high level of α-SMA protein distributed along the long axis of fibroblasts in the monolayer gels and the anchored collagen gels, especially in former ones. In contrast, few expression of α-SMA protein was found in floating collagen gels. Cell morphologies and orientation, expression and distribution of α-SMA as well as collagen arrangement of fibroblasts in the monolayer gels and the anchored collagen gels were similar to those in granulation tissue, whereas floating collagen gels resembled normal dermis or remodelled tissues. Conclusions Tissue architecture or morphology of the dermis are corresponding to tension proporties. Different tissue architectures are closely correlated with particular tension proporties.

The high mobility group A2 (HMGA2),one of non-histone chromatin protein,can specificly bind to AT-rich DNA sequences by its AT-hook and work as oncofetal gene and architectural transcription factor.HMGA2 expresses in almost all kinds of malignant neoplasms,which is closely related to the formation,development and poor prognosis of the neoplasms.HMGA2 plays a very important role in every biological process including cell proliferation,cell cycle,stem cell self-renewal,epithelial-mesenchymal transition and DNA damage repair.It is of great significance to study the effect and mechanism of HMGA2 in neoplasms.

Objective To investigate the mid-term effect of SolitaireAB stent-assisted interventional embolization with spring coils for the treatment of intracranial wide-necked aneurysms. Methods During the period from May 2009 to April 2013, a total of 49 patients with intracranial wide-necked aneurysm (49 aneurysms in total) received SolitaireAB stent-assisted interventional embolization treatment at authors’ hospital. In 41 patients, a total of 41 aneurysms were detected, of which ruptured aneurysm with bleeding was confirmed in 26 and un-ruptured aneurysm in 15. These 41 patients were followed up for 12-48 months. Based on modified Rankin scoring and DSA, CTA or MRA manifestations, the clinical results were evaluated. Results After the embolization treatment, re-bleeding of the aneurysm occurred in 2 cases, cerebral infarction in 3 cases, occlusion of the parent artery in one case and death in one case; the occurrence rate of complications was 14.2%. DSA, MRA or CTA performed at 12 months after the embolization treatment, showed that 32 aneurysms (78.0%) were completely obstructed, which was obviously higher than that observed on DSA performed immediately after the embolization procedure (21 aneurysms, 42.9%), the difference was statistically significant (P=0.02);residue of aneurismal neck was seen in 7 cases (17.1%) and partial occlusion in 2 cases (4.9%), which were much better than those observed on DSA that was performed immediately after the embolization procedure. Twenty-four aneurysms (58.5%) remained stable, showing no any change, and recurrence of aneurysm was observed in 4 cases (9.7%). At the last follow-up exam, the modified Rankin scoring showed that 0 point was seen in 18 cases (43.9%), one point in 10 cases (24.4%), 2 points in 5 cases (12.2%), 3 points in 4 cases (9.8%), 4 points in 2 cases (4.85%) and 5 points in 2 cases (4.85%). The self-care rate for daily activities was 80.5%, the prognosis was good. Conclusion For the treatment of intracranial wide-necked aneurysms, SolitaireAB stent-assisted interventional embolization with spring coils is safe and effective. This technique can improve the embolization rate and reduce the procedure-related complications.

The author introduces the basic concepts of microsatellite and population genetics and its characteristics, expounds the application of these theories for population genetic structure and genetic diversity, gene flow and evolutionary significant unit ESU division research. This paper discuss its applicationin study of genetic causes, origin of cultivation, different regional origins of geoherbs, aiming at providing a new theory and method for geoherbs.
Drugs, Chinese Herbal ; Evolution, Molecular ; Genetic Markers ; genetics ; Genetic Techniques ; Geography ; Microsatellite Repeats ; genetics

Animals ; Dose-Response Relationship, Drug ; Hydroxylamine ; toxicity ; Male ; Rats ; Rats, Wistar ; Spermatozoa ; drug effects ; Testis ; cytology ; drug effects

Objective To investigate the nutrition status of the focus groups of iodine deficiency in the 5 coastal counties(districts)in Guangxi in 2008 to propose corresponding prevention and control measures.Methods In the 5 coastal counties(districts)in Guangxi,including Haicheng,Tieshangang,Yinhai districts and Hepu county in Beihai city,Qinnan district in Qinzhou city,the rates of iodized salt coverage,qualified iodized salt and consumption of qualified iodized salt had always been below the average level of Guangxi.In the study,6 towns were randomly picked in Hepu district,and 3 towns were randomly picked in each of the other 4 coastal counties(districts).Two administrative viRages were randomly picked in each town.Forty children ages 8 to 10 and 10 women of child-beating age from 18 to 42 which included 5 pregnant and lactating women,were picked from each administrative village.Arsenic-cerium catalyzed spectrophotometry(WS/T 107-2006)Was used to determine the urinary iodine.Results In total,1437 urine samples of the children Were picked.The median of the children's urinary iodine Was 191.0μg/L,with 1.4%(20/1437)of the children's urinary iodine<20 μg/L,and 5.4%(77/1437)<50 μg/L, and 20.3%(292/1437) < 100 μg/L. The medians of the children's urinary iodine were 134.5 - 220.0 μg/L.In Haicheng and Hepu, the medians of the children's urinary iodine were higher than 200 μg/L(220.0,209.5 μg/L, respectively). The medians of the children's urinary iodine in the other 3 counties(districts) were within the suitable range between 100 and 200 μg/L(134.5,162.4,199.3 μg/L, respectively). The medians of the 8- and 9-year-old ehildren's urinary iodine (192.3,206.7 μg/L, respectively) were higher than that of the 10-year-old children's(157.2 μg/L, χ2 = 19.644,41.997, all P < 0.017). Totally, 365 urine samples of the women were picked.The medians of the women's urinary iodine in the 5 counties were 88.2 - 195.6 μg/L, with 195.6 μg/L in Haicheng and 156.5 μg/L in Hepu, and 88.2 μg/L in Tieshangang, which was the lowest and below 100 μg/L. The median of the childbearing-age women's urinary iodine was the highest(152.6 μg/L). The median of the lactating women's urinary iodine was the second (131.9 μg/L). The median of the pregnant women's urinary iodine was the lowest (89.4 μg/L) and below 100 μg/L. Only 6.7%(2/30) of the pregnant women's urinary iodine were within the suitable range between 150 and 250 μg,/L. Conclusions In the 5 coastal counties(districts) in Guangxi, 8 to 10-year-old children had good nutrition levels while childbearing-age and lactating women were within the suitable range. As a whole, the pregnant women had insufficient iodine nutrition. We propose that the iodine nutritional status of pregnant women is monitored routinely, with further prevention, control measures, health publicity and education necessary to improve iodized salt coverage.

According to the designed specific primers of gene fragment based on the Salvia miltiorrhiza transcriptome data, with the method of reverse transcription polymerase chain reaction (RT-PCR), this study cloned full-length cDNA sequence of 1-hydroxy-2-methyl-2-(E)-butenyl-4-diphosphate synthase gene from Salvia miltiorrhiza bge.f.alba, this sequence is named as SmHDS and its GenBank registration number is KJ746807. SmHDS, 2 529 bp long, contains an ORF of 2 229 bp, encodes 742 amino acids, including 5' UTR 170 bp and 3' UTR 130 bp. Using bioinformatics software, having made a homology analysis of the obtained sequence, we can have a conclusion that SmHDS have a close genetic relationship with HDS of Salvia miltiorrhiza. Analysis result of prokaryotic expression revealed that in Escherichia coli, SmHDS expressed target proteins which in size are comparable with the protein predicted. Meanwhile, the 4 factors which can influence the protein expression were optimized, the 4 factors are inducing temperature, inducing time, IPTG concentrations and density of inducing host bacterium (A600). The optimal expression conditions of SmHDS were 30 degrees C until the A600 is 0.6, and add IPTG to a final concentration of 0.2 mmol x L(-1), and the induction time of 20 h. It provides theoretical basis for the further study of the function of 1-hydroxy-2-methyl-2-(E)-butenyl-4-diphosphate synthase in the biosynthesis of tanshinone compounds.
Cloning, Molecular ; DNA, Complementary ; genetics ; Diterpenes, Abietane ; biosynthesis ; Enzymes ; biosynthesis ; genetics ; Escherichia coli ; metabolism ; Plant Proteins ; biosynthesis ; genetics ; Salvia miltiorrhiza ; enzymology ; genetics