OBJECTIVETo explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.

METHODSThe patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.

RESULTSThe patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.

CONCLUSIONThe microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.

Adult ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosomes ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Intellectual Disability ; genetics ; Karyotype

BACKGROUND:Among the surface modification technologies of metal implants,micro-arc oxidation has been widely concerned for its convenience,low cost and ability to effectively adjust the microstructure and elements of surface coatings. OBJECTIVE:To summarize research advances in physical and chemical properties and biological activities of oxidation coatings prepared by micro-arc oxidation on different materials. METHODS:The articles about the effects of micro-arc oxidation on the biological activity of medical metals were searched in PubMed and Web of Science based on the English search terms"MAO,micro-arc oxidation,osseointegration,mechanical property,biological activity,angiogenesis,fibrogenesis".The search time was from January 2016 to December 2022.According to the inclusion and exclusion criteria,82 articles were finally retained for review. RESULTS AND CONCLUSION:Micro-arc oxidation is a potential surface modification technology,which can greatly improve the success rate of implantation,and can be widely used in other fields.The specific reasons are as follows:(1)Micro-arc oxidation technology forms special porous morphology on the surface of materials,which can optimize the mechanical properties such as wear resistance and corrosion resistance,contributing to the reduction of the degradation rate of magnesium alloys.(2)Micro-arc oxidation technology can significantly enhance the bioactivity and improve the bioinertness of titanium and titanium alloys through the addition of strontium,hydroxyapatite and other metallic or nonmetallic substances to its porous morphology for helping elevate its osteogenic differentiation,angiogenesis,fibrogenesis and other biological activities.

BACKGROUND:Micro-arc oxidation can effectively add bioactive elements to the metal surface and improve the anti-bacterial and anti-inflammatory properties of biomedical metal materials,so this technology has become one of the hotspots of biomedical materials. OBJECTIVE:To summarize the anti-bacterial and anti-inflammatory properties of surface coatings prepared by the combination of micro-arc oxidation and other surface modification technologies. METHODS:Articles from January 1996 to December 2022 were searched on CNKI,WanFang and PubMed databases using Chinese and English search terms"micro-arc oxidation,antibacterial properties,anti-inflammatory properties,metal implants".After preliminary screening according to inclusion and exclusion criteria,89 articles were retained and summarized. RESULTS AND CONCLUSION:The ceramic layer prepared by micro-arc oxidation can improve the anti-bacterial and anti-inflammatory properties of titanium,magnesium and other alloys.Combination with other surface modification technologies can effectively solve the effect of pores on the surface properties of the alloy,and further improve the biological properties of the oxide film.It has a wide application prospect in orthopedics and dentistry.At present,most studies are limited to metal coatings,and most of them focus on metal elements with good antibacterial properties such as silver and copper,while only a few studies mention non-metallic coatings such as graphene oxide,hydroxyapatite and chitosan.In the future,extensive studies can be conducted on inorganic coatings and polymer coatings,and more combinations of different bioactive elements can also be adopted to improve antibacterial properties.Currently,studies on the inflammation of implant coatings prepared by micro-arc oxidation are mostly limited to the immune system and focused on macrophages,while studies on neutrophils and platelets are scarce.In the future,a variety of advanced technologies should be combined to explore the specific effects of micro-arc oxidation coating on other immune cells and inflammatory cells.

OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.
Abnormalities, Multiple ; genetics ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; Female ; Humans ; Infant, Newborn ; Phenotype

OBJECTIVETo explore the genetic cause for a child with developmental delay.

METHODSThe karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).

RESULTSThe karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.

CONCLUSIONThe abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Karyotyping ; Mosaicism ; Ring Chromosomes ; Sequence Deletion

In Korea and China, ilaprazole is a widely used proton pump inhibitor in the treatment of gastric ulcers. In this study, a specific and sensitive LC-MS/MS method has been developed and validated for the quantification of ilaprazole enantiomers in the rat plasma, using R-lansoprazole as the internal standard. The enantioseparation was achieved on a CHIRALPAK AS-RH column (4.6 mm × 150 mm, i.d. 5μm), with a mobile phase composed of 10 mM ammonium acetate aqueous solution and acetonitrile (60:40, V/V), at a flow-rate of 0.5 mL/min. The method was validated over the concentration range of 0.5-300 ng/mL for both, R- and S -ilaprazole. The lower limit of quantification was 0.5 ng/mL for both enantiomers. The relative standard deviation (RSD) of intra- and inter-day precision of R-ilaprazole and S-ilaprazole was less than 10.9％, and the relative error accuracy (RE) ranged from -0.5％-2.0％. Finally, the method was successfully evaluated in rats in a stereoselective pharmacokinetic study of the ilaprazole racemate.