Objective To study the correlation between MMP-9 rs3918242 C ＞ T polymorphism and cancer risk.Methods PubMed database was utilized to search the relative artiles concerning association between MMP-9 rs3918242 C ＞T polymorphism and cancer risk (last search updated on April 2011).All the statistical analysis was performed by STATA software.Results 4,124 cancer patients and 4,728 control subjects were included in this meta-analysis.No association was observed in the overall analysis (allelic contrast P=0.378,OR =0.94,95％ CI:0.83-1.07).However,in the stratified analysis by cancer type,MMP-9-1562 T allele was found to decrease the lung cancer(P =0.026,OR =0.70,95％ CI:0.5 1-0.96) and colorectal cancer(P=0.016,OR =0.80,95％ CI:0.66-0.96).Conclusion MMP-9 rs3918242 C/T polymorphism is correlated with colorectal cancer and lung cancer.

Zuotai(mercury preparation)is considered the treasure of Tibetan medicine and is commonly referred to as the"King of Medicines".It is widely utilized in clinical practice as a core ingredient in the precious Tibetan medicine compounds,which possesses multiple therapeutic properties such as disease treatment,detoxification,health maintenance,and tonic effect.This paper conducted a comprehensive review of the classical Tibetan medical literature and recent research literature to elucidate the historical development and modern applications of the"Zuotai"concoction method.There are three main representative approaches of Zuotai concoction,including the mercury concoction method in the"Four Medical Tantras"by Udo-Yundan Pao(708-833),the concoction method in the"Mercury Concoction Classics"by Dongshun Nu Gyatso(13th century),and the mercury concoction method by Master Tsuru Tsering(1926-2004),who has imparted the Zuotai concoction process since the establishment of New China.In addition,Zuotai has been extensively studied by researchers in the fields of modern pharmacochemistry,pharmacokinetics,and toxicology.Overall,this paper provides a comprehensive review of the concoction methods of"Zuotai"in the classical Tibetan medical literature and modern pharmacological and toxicological research,so as to provide important reference value for in-depth understanding of the origin and history of"Zuotai".

Objective:To investigate the incidence rate and gene variation of methylmalonic academia (MMA) in Ji′nan city by analyzing biochemical and genetic screening results, and to explore the carrier frequency of MMA-related pathogenic genes in the population in Ji′nan.Methods:The children diagnosed with MMA by tandem mass spectrometry screening in Ji′nan Neonatal Disease Screening Centre from May 2011 to May 2022 were enrolled in this study.Their genetic test results were retrospectively analyzed and summarized.The dried heel blood tablets collected from 6 800 newborns were tested for neonatal gene screening. MMAA, MMAB, MMACHC and MMUT genes in 4 800 cases were detected by high-throughput sequencing+ target area capture technology.Ultra-multiplex polymerase chain reaction+ target gene locus capture technology was used to detect 174 target loci of 8 genes related to MMA in 2 000 cases.The hotspot mutation and related gene carrier rate of MMA were analyzed. Results:A total of 367 452 newborns were screened by tandem mass spectrometry, and 103 cases (56 males and 47 females) were diagnosed with MMA by screening.The estimated incidence of MMA was 1∶3 567.Among the 103 MMA cases, 76 were genetically diagnosed, and 4 gene variants of MMA ( MMAHC, MMUT, MMAA, MMADHC) were identified.A total of 6 800 neonates underwent neonatal genetic screening.Three of them were diagnosed with MMA.About 318 infants carried pathogenic variants of MMA, with a total carrier rate of 4.68%.Specifically, the carrier rates of MMACHC and MMUT gene variants were 3.09%(210/6 800) and 1.43% (97/6 800), respectively. Conclusions:MMA is the most common organic acid metabolism disorder in our country.The incidence and carrier rate of this disease are high in Jinan city.Neonatal genetic screening is an important supplement to neonatal biochemical screening.Carrier screening for MMA-related pathogenic genes is recommended for couples of childbearing age in Jinan.

OBJECTIVES: To retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency. METHODS: Clinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with PAH deficiency diagnosed by newborn screening in Jinan and 213 patients referred from the surrounding areas of Jinan were summarized. Gene variations were checked by a customized Panel gene detection method. Blood phenylalanine-concentration and physical development indicators including height and weight were regularly monitored. Intellectual development was assessed using a neuropsychological development scale for patients aged 0-6 years and academic performance, and brain injury in patients was assessed using brain magnetic resonance imaging. RESULTS: c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. The genotype of c.158G>A variation is compound heterozygous variation, with mainly a mild hyperpheny-lalaninemia. 168 patients with PAH deficiency who were followed-up regularly had normal physical development without dwarfism or malnutrition. Among the 33 preschool patients who underwent mental development assessment, 2 were mentally retarded and the initial treatment age was older than 6 months. Nine patients with an average age of (17.13±2.42) years completed brain magnetic resonance imaging, one case was normal, and 8 cases were abnormal. There were patchy or patchy hyperintense foci near the bilateral lateral ventricles on T₂WI, and the intellectual development was normal. Compared with the other eight patients, the blood phenylalanine concentration of the normal child was better and stably controlled within the ideal range. CONCLUSIONS c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. After standardized treatment, most patients with PAH deficiency diagnosed by screening can obtain normal growth and intellectual development in adolescence, but there are different degrees of organic lesions in the cerebral white matter.
Child ; Child, Preschool ; Adolescent ; Humans ; Infant, Newborn ; Young Adult ; Adult ; Neonatal Screening ; Follow-Up Studies ; Retrospective Studies ; Phenylketonurias/genetics* ; Phenylalanine Hydroxylase/genetics* ; Phenylalanine/therapeutic use* ; Mutation