1.Research on The Genealogical Inference Efficiency of High-density SNPs
Jing LI ; Yi-Jie SUN ; Wen-Ting ZHAO ; Zi-Chen TANG ; Jing LIU ; Cai-Xia LI
Progress in Biochemistry and Biophysics 2026;53(3):740-753
ObjectiveThis study aims to explore the potential of different orders of magnitude single-nucleotide polymorphism (SNP) locus combinations for predicting distant kinship relationships. A high-density SNP locus set was constructed, and a comprehensive assessment of its inference capability was conducted. MethodsFirstly, we selected three commercial chip panels, CGA (Chinese genotyping array, Illumina), GSA (Global screening array, Illumina), Affy (23MF_V2 high-density SNP array, Affymetrix) and merged them after quality control, forming a high-density SNP locus panel(1 180 k). Secondly, we selected 161 samples and collected their peripheral blood samples by using whole-genome sequencing technology. Within this sample population, the levels of kinship relationships fully covered the range from level 1 to level 9, and the number of kinship pairs at each level was consistently maintained at over 50 pairs. From 161 samples data of whole-genome sequencing, the 1 180 k locus set was extracted, which is referred to as the high-density SNP locus set in the following text. The kinship inference was conducted using the identity-by-descent (IBD) algorithm with the selected optimal parameters. To comprehensively evaluate the performance of the high-density SNP locus set in kinship inference, we compared it with the three commercial chip panels, the intersection of these three chip loci, and the control sets constructed by randomly reducing the number of the high-density SNP locus set. Based on the changes in the IBD lengths, as well as the dynamic trends in prediction accuracy, we conducted a scientific assessment of the kinship inference capability of the high-density SNP locus set. ResultsAfter screening, a set of 1 184 334 autosomal SNPs was obtained. During the process of screening the optimal IBD length threshold, the result revealed that 0 cM, 1 cM, and 2 cM all demonstrated good applicability. However, to avoid the issue of a large amount of redundant information caused by setting a too low IBD length threshold, this study ultimately selected 2 cM as the optimal threshold. Compared with the average results of three chip panels, the high-density SNP locus set increased the total IBD length and the average IBD length across levels 1-9; the accuracy of the confidence interval for level 8 was 70.97%, which represented a 3.50% improvement; the average confidence interval accuracy for levels 1-8 was 91.39%, representing a 1.00% increase; and the false negative rates at levels 8 and 9 were reduced by 2.42% and 6.76%, respectively. The system efficacy of the high-density SNP locus set for kinship inference of first to eighth degree relationships reached 98.91%. Through random reduction of the high-density SNP locus set results, it is found that increasing the number of SNPs with the panel, the detection efficiency of IBD length showed a significant upward trend. At the same time, the overall trend in the accuracy of kinship relationship prediction as well as the confidence interval accuracy also indicated that both metrics steadily increased with the addition of more loci. ConclusionThe results show that the high-density SNPs panel significantly enhances the efficacy of distant kinship inference, accurately covering kinship degrees, with the average confidence interval accuracy for first to eighth degree relationships stably above 90%. The study finds that increasing the number of SNPs panel can improve the ability to predict distant kinship.
2.Current status and influencing factors of knowledge-attitude-practice in myopia prevention and control among children and adolescents in Ningbo
Jue WANG ; Xiaotian LIU ; Xia JIN ; Yanli ZHANG ; Hongjun LI ; Honger SUN ; Aiai CHEN ; Yuan TANG
International Eye Science 2026;26(3):518-522
AIM:To investigate the current status and influencing factors of knowledge-attitude-practice in myopia prevention and control among children and adolescents in Ningbo City, thereby providing a scientific basis for formulating targeted prevention strategies.METHODS: Children and adolescents aged 6-12 years old were selected from the medical-school collaborative myopia prevention network in Ningbo City between August 2024 and May 2025 using stratified cluster sampling. Information on myopia prevention knowledge(15 items)and practice(9 items)was collected through questionnaire surveys. Logistic regression models were used to analyze factors influencing myopia occurrence in children and adolescents.RESULTS: A total of 664 children and adolescents aged 6-12 years were enrolled in this study. Participants were divided by age into three groups: 6-7 years old(n=221), 8-9 years old(n=221), and 10-12 years old(n=222). Of the 664 questionnaires distributed, 637 valid questionnaires were returned(201 from the 6-7 age group, 235 from the 8-9 age group, and 201 from the 10-12 age group), yielding an effective response rate of 95.9%. Based on myopia screening results, the non-myopic group comprised 203 participants(31.9%), including 100 males and 103 females, with a mean age of 8.82±1.98 years old. The myopic group comprised 434 participants(68.1%), including 213 males and 221 females, with a mean age of 9.10±1.95 years old. The myopia prevalence rates in the 6-7, 8-9, and 10-12 age groups were 37.8%(76/201), 71.9%(169/235), and 94.0%(189/201), respectively(P<0.001). Regarding the knowledge and practice of myopia prevention, the overall awareness rate in the non-myopic group(59.7%±9.7%)was significantly higher than that in the myopic group(48.7%±8.5%; P<0.001). Additionally, the non-myopic group scored higher on the key practice of “regular eye examinations”(4.27±0.96)compared to the myopic group(4.10±1.05; P<0.05). Logistic regression analysis indicated that age was the primary risk factor for myopia occurrence.CONCLUSION: Age is the dominant factor in the onset of myopia, and there is a phenomenon of “knowledge-practice gap”; the traditional health education model has limitations, and a precise prevention and control system based on developmental patterns should be established.
3.Five-year survival analysis and influencing factors of elderly lung cancer patients with chronic obstructive pulmonary disease in Mianyang City
Haishi XUE ; Ling HUANG ; Junjie XIA ; Yu QIU ; Ke GE ; Jincheng WANG ; Yuting CHEN ; Runjiao CHEN ; Lingna LI ; An LAN ; Yan HOU
Journal of Public Health and Preventive Medicine 2026;37(1):138-141
Objective To study the five-year survival status and influencing factors of elderly patients with lung cancer complicated with chronic obstructive pulmonary disease (COPD). Methods A cohort study was conducted to follow up 450 patients with lung cancer and chronic obstructive pulmonary disease who were hospitalized in our hospital from January 2018 to December 2023. The endpoint of the follow-up was the end of a five-year period or death. The Life Tables method was used to calculate survival rates and plot survival curves. The Cox proportional hazards model was used to analyze the influencing factors of five-year survival. Results The results indicated that the overall five-year survival rate of patients was 4.89%, and it decreased year by year. Cox regression analysis showed that age, gender, family functioning, and psychological status significantly influenced patient survival rate (all P<0.05). Stratified analysis found that the smoking status, family functioning, and psychological status of male patients all had an impact on survival rate (all P<0.05), while the psychological status of female patients had a more significant impact on survival (P=0.008). Conclusion This study provides a scientific basis for comprehensive intervention of elderly lung cancer patients with COPD. It is recommended that clinical attention should be paid to psychological and family factors to improve patient prognosis.
4.Tongnao Decoction Promotes Angiogenesis and Alleviates Cerebral Ischemic Injury via PI3K/Akt/GSK-3β Signaling Pathway
Yan LIU ; Yang WU ; Wanhui PENG ; Jingyi CHEN ; Jiale GAN ; Li LI ; Yangjingyi XIA ; Yunze LI ; Zhaoyao CHEN ; Wenlei LI ; Minghua WU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(9):100-110
ObjectiveTo investigate the mechanisms of Tongnao decoction (TND) in mice with acute ischemic stroke (AIS). MethodsFifty male C57BL/6J mice were randomly divided into a sham operation group, model group, TND low-dose group (1.86 g·kg-1), TND high-dose group (3.72 g·kg-1), and butylphthalide (NBP) group (10 mg·kg-1), with 10 mice in each group. A mouse model of cerebral ischemic injury was established using photochemical thrombosis (PT). The sham operation group and model group were administered an equal volume of normal saline by gavage. All five groups were treated once daily for 14 consecutive days. Behavioral tests were performed before modeling and at the end of administration. T2-weighted imaging (T2WI) was performed 3 days after modeling to evaluate the extent of injury. Hematoxylin-eosin (HE) staining was used to observe histological changes in the cerebral cortex, and Nissl staining was used to observe neuronal morphology. Cerebral blood flow in mice was detected using a laser speckle contrast imaging (LSCI) system. Immunofluorescence staining was used to detect the cell proliferation marker bromodeoxyuridine (BrdU) and the highly glycosylated type I transmembrane glycoprotein CD34. Western blot analysis was used to detect the expression levels of phosphatidylinositol 3-kinase (PI3K), protein kinase B (Akt), glycogen synthase kinase-3β (GSK-3β), and their phosphorylation levels, as well as tight junction-related proteins zonula occludens-1 (ZO-1), Occludin, and Claudin-5 in the peri-infarct tissue. Thirty-five zebrafish were randomly divided into normal control group, model group, TND low and high dose groups (0.16, 0.32 g·L-1) and NBP group (10 μmol·L-1), with 7 in each group. A stereoscopic fluorescence microscope was used to observe vascular growth in zebrafish. ResultsImaging showed that PT caused ischemia in the right cortical region. Behavioral tests indicated that, compared with the model group, the drug-treated groups reduced the error rate of irregular balance ladder climbing on the affected side and shortened the tape removal time (P<0.05). HE staining and Nissl staining showed that, compared with the model group, the drug-treated groups exhibited reduced brain tissue damage, fewer scars, and improved neuronal morphology. LSCI results showed that the drug-treated groups partially restored cerebral blood perfusion and promoted the establishment of collateral circulation compared with the model group. Immunofluorescence staining indicated that the drug-treated groups increased the positive rates of BrdU and CD34 compared with the model group (P<0.01), promoting angiogenesis. Meanwhile, compared with the model group, the drug-treated groups upregulated the expression levels of p-PI3K, p-Akt, p-GSK-3β, and tight junction proteins ZO-1, Occludin, and Claudin-5 (P<0.05,P<0.01), and increased the number of intersegmental vessels in zebrafish (P<0.05,P<0.01). ConclusionTND can promote angiogenesis around the infarct in PT model mice by regulating the PI3K/Akt/GSK-3β signaling pathway, thereby improving cerebral ischemic injury.
5.Influence of CYP2C19 gene polymorphism on platelet function and inflammatory cytokines and analysis of factors associated with poor prognosis in elderly patients with ischemic stroke
Hai LIANG ; Hong ZHANG ; Runan XIA ; Huijuan CHEN ; Mengyu JIANG ; Fanqin LI ; Panpan DI ; Miao YANG
China Pharmacy 2026;37(6):782-787
OBJECTIVE To investigate the influence of CYP2C19 gene polymorphism on platelet function and inflammatory cytokines in elderly patients with ischemic stroke, and to analyze potential factors associated with poor prognosis. METHODS A retrospective study was conducted on elderly patients with ischemic stroke admitted to our hospital from June 2024 to June 2025, wh o underwent CYP2C19 genotype testing and received antiplatelet therapy with clopidogrel. The levels of platelet function indicators and inflammatory cytokines before and after treatment were compared among patients with different metabolic phenotypes. Based on the prognosis at 6 months post-treatment, patients were divided into poor prognosis group and good prognosis group. Univariate analysis was performed on general data, metabolic phenotype, the levels of platelet function indicators and inflammatory cytokines. Variables with P <0.05 and the levels of inflammatory cytokines before treatment were included in a multivariate Logistic regression analysis to identify independent risk factors for poor prognosis. Multiple linear regression was used to further analyze the relationship between metabolic phenotypes and inflammatory cytokines. RESULTS A total of 448 elderly patients with ischemic stroke were included; among them, 162 cases were normal metabolic phenotype, 218 were intermediate metabolic phenotype, and 68 were poor metabolic phenotype. No rapid or ultrarapid metabolic phenotypes were observed. After treatment, platelet aggregation rate, the levels of P-selectin and platelet activated complex-1 (PAC-1), high-sensitivity C-reactive Protein (hs-CRP), interleukin-1β (IL-1β), IL-6 and tumor necrosis factor-α (TNF-α) in the normal metabolic phenotype group, intermediate metabolic phenotype group, and poor metabolic phenotype group (except for platelet aggregation rate, and the levels of P-selectin and PAC-1 in the poor metabolic phenotype group) were significantly lower than those before treatment in the same group. Moreover, the above indicators in the normal metabolic phenotype group were significantly lower than those in the intermediate and poor metabolic phenotype groups at the corresponding time, and the levels of platelet function indicators in the intermediate metabolic phenotype group were significantly lower than those in the poor metabol ic phenotype group at the corresponding time ( P <0.05). Univariate and multivariate Logistic regression analyses showed that combined with hypertension, combined with diabetes mellitus, and intermediate or poor metabolic genotypes were independent risk factors for poor prognosis in elderly patients with ischemic stroke ( P <0.05). Multiple linear regression analysis showed that serum levels of hs-CRP, IL-1β, IL-6 and TNF-α before treatment were significantly higher in patients with intermediate and poor metabolic genotypes compared to those with normal metabolic genotype ( P <0.05), with a greater magnitude of increase in inflammatory cytokines observed in the patients with poor metabolic genotype. CONCLUSIONS The elderly ischemic stroke patients with CYP2C19 intermediate and poor metabolic genotypes have poor inhibition effect on platelet and higher levels of inflammatory cytokines than normal metabolic genotype; CYP2C19 gene polymorphism, and in combination with hypertension and diabetes, can be used as independent predictors of poor prognosis.
6.Prevalence and associated factors of work-related musculoskeletal disorders among workers in a manganese enterprise
Tianzi SHAN ; Junxiang MA ; Tian CHEN ; Kang NONG ; Yucheng SUN ; Xueting WANG ; Gaoman ZHANG ; Teng MA ; Zhuoran XIA ; Fengtao CUI ; Li CHEN ; Yanyan ZHENG ; Piye NIU
Journal of Environmental and Occupational Medicine 2026;43(3):333-340
Background Work-related musculoskeletal disorders (WMSDs) are a major occupational health concern, particularly among workers exposed to adverse ergonomic conditions. Manganese production involves heavy physical demands, yet research on WMSDs among manganese workers remains limited. Objective To investigate the prevalence and influencing factors of WMSDs among manganese workers in a manganese enterprise in Guangxi. Methods A cross-sectional survey was conducted from May to June 2024 on workers at a manganese factory in Guangxi. The Chinese Musculoskeletal Disorders Questionnaire was used to collect information on demographic characteristics, distribution of musculoskeletal symptoms, and work-related exposures. χ2 test was applied to compare differences in positive WMSDs rates across groups, and logistic regression analysis was performed to identify associated factors. Results A total of 1476 workers were enrolled in the study after pre-determined inclusion and exclusion criteria. The overall prevalence of WMSDs was 34.15%. The most commonly affected body regions were the lower back (17.28%), neck (16.67%), and shoulders (13.82%). The results of logistic regression analysis indicated that female, older age, and education level of college or above were associated with a higher risk of WMSDs (P<0.05). Awkward working postures were significantly associated with WMSDs in corresponding body regions; in particular, awkward postures of the neck, upper limbs, trunk, and lower limbs were related to an increased risk of WMSDs in multiple body sites (P<0.05). In addition, poor lighting conditions, high workplace temperature, frequent or sustained arm support during work, and high job demands were associated with an increased risk of overall or site-specific WMSDs (P<0.05). Conclusion The high prevalence of WMSDs among manganese workers is closely associated with demographic characteristics, working postures, and work environment and organizational factors. Targeted ergonomic interventions focusing on high-risk body regions and key ergonomic exposures are warranted to reduce the risk of WMSDs among manganese workers.
7.Clinical Efficacy and Mechanism of Bupi Qingfei Prescription in Treating Stable Bronchiectasis
Zi YANG ; Guangsen LI ; Bing WANG ; Bo XU ; Jianxin WANG ; Sheng CAO ; Xinyan CHEN ; Xia SHI ; Qing MIAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(2):162-169
ObjectiveTo explore the clinical efficacy and mechanism of Bupi Qingfei prescription (BPQF) in treating stable bronchiectasis in the patients with syndromes of lung-spleen Qi deficiency and phlegm-heat accumulation in the lungs. MethodsA randomized, double-blind, placebo-controlled trial was conducted. Patients were randomized into BPQF and placebo control (PC) groups. On the basis of conventional Western medicine treatment, the BPQF granules and placebo were respectively administered at 10 g each time, twice a day, for a course of 24 weeks. The TCM symptom scores, Quality of Life Questionnaire for Bronchiectasis (QOL-B) scores, lung function indicators, T lymphocyte subsets, level of inflammatory factors in the sputum, level of neutrophil elastase (NE) in the sputum, and occurrence of adverse reactions were observed before and after treatment in the two groups. ResultsA total of 64 patients completed the study, encompassing 32 in the BPQF group and 32 in the PC group. After treatment, the BPQF group showed decreased TCM symptom scores (P<0.01), increased QOL-B scores (P<0.01), and declined levels of tumor necrosis factor (TNF)-α and NE (P<0.05, P<0.01). The PC group showed decreased TCM symptom (except spleen deficiency) scores (P<0.01), increased the QOL-B health cognition and respiratory symptom domain scores (P<0.05, P<0.01), and a declined TNF-α level (P<0.01). Moreover, the BPQF group had lower TCM symptom (except chest tightness) scores (P<0.05, P<0.01), higher QOL-B (except treatment burden) scores (P<0.05, P<0.01), and lower levels of interleukin-6 and TNF-α (P<0.05) than the PC group. Neither group showed serious adverse reactions during the treatment process. ConclusionBPQF can ameliorate the clinical symptoms of stable bronchiectasis patients who have lung-spleen Qi deficiency or phlegm-heat accumulation in the lungs by regulating the immune balance and inhibiting airway inflammatory responses.
8.Effect of maternal pyrethroid pesticides exposure during pregnancy on lymphocytes in 1-year-old children: A birth cohort study
Zhiye QI ; Xia XIAO ; Shuqi CHEN ; Dandan ZHAO ; Xiaoxiao SONG ; Yan LI
Journal of Environmental and Occupational Medicine 2026;43(4):402-409
Background Pyrethroid pesticides (PYRs) can cross the placental barrier to cause intrauterine fetal exposure, which may lead to developmental immunotoxicity (DIT). However, the specific effect of maternal PYR exposure during pregnancy on the cellular immune function of 1-year-old children remains unclear. Objective To explore the effect of PYRs exposure throughout the entire pregnancy on peripheral blood lymphocytes in 1-year-old children and potential sensitive window period of PYRs exposure. Methods A birth cohort was established by enrolling pregnant women in their first trimester and following them and their infants until one year of age. Ultra-high performance liquid chromatography-tandem mass spectrometry was used to detect the levels of PYRs metabolites, including 3-phenoxybenzoic acid (3PBA), 4-fluoro-3-phenoxybenzoic acid (4F3PBA), and cis-3-(2,2-dichlorovinyl)-2,2- dimethylcyclopropane carboxylic acid (cis-DBCA), in the urine of pregnant women during the first trimester (gestational weeks 6-12), the second trimester (gestational weeks 21-24), and the third trimester (gestational weeks 33-36). Peripheral blood leukocyte and lymphocyte counts were measured in children at 12 months of age using the Coulter principle combined with flow cytometry. Exposure levels of PYRs metabolites in each trimester were divided into low, moderate, and high exposure groups based on the 25th (P25) and 75th (P75) percentiles. Meanwhile, participants were classified as having repeated high or low exposure if their metabolite levels were > P75 or <P25 in at least two trimesters, respectively, while all others were categorized as having repeated moderate exposure. Generalized linear models were used to analyze the associations between trimester-specific and repeated PYRs metabolite exposure levels and the peripheral blood white blood cell (WBC) and lymphocyte counts in children aged 1 year. Results A total of 336 mother-child pairs were included in this study. For the pregnant women, the total detection rates of maternal urinary 3PBA, 4F3PBA, and cis-DBCA across the three trimesters of pregnancy were 80.5%, 100.0%, and 81.3%, respectively; and median creatinine-corrected concentrations were 0.24, 0.36, and 0.42 μg·g−1, respectively. In children aged 1 year, the mean WBC and lymphocyte counts in peripheral blood were (8.9±2.0)×109·L−1 and (5.7±1.6)×109·L−1, respectively. The results of the generalized linear model analysis indicated that compared to the low exposure group, the high cis-DBCA exposure group during the third trimester of pregnancy had significantly lower peripheral blood WBC count (β=−0.87, 95%CI: −1.51, −0.23) and lymphocyte count (β=−0.64, 95%CI: −1.15, −0.13); and the repeated high-exposure group of cis-DBCA had significantly lower peripheral blood WBC count (β=−1.34, 95%CI: −2.34, −0.34) and lymphocyte count (β=−0.80, 95%CI: −1.60, −0.01) than the repeated low exposure group. Similarly, the repeated moderate-exposure group of cis-DBCA had a significantly lower peripheral blood WBC count (β=−0.83, 95%CI: −1.59, −0.07) than the repeated low exposure group. Conclusion High maternal exposure to PYRs with cis-DBCA as the major metabolite exposure is associated with decreased peripheral leukocyte and lymphocyte counts in children aged 1 year, and repeated high-level exposure throughout gestation appears to exacerbate DIT in offspring. The third trimester of pregnancy maybe a sensitive window for children's DIT induced by exposure to PYRs during pregnancy.
9.A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment
Jie ZHANG ; Yan ZHANG ; Li HUO ; Ke LYU ; Tao WANG ; Ze'nan XIA ; Xiao LONG ; Kexin XU ; Nan WU ; Bo YANG ; Weibo XIA ; Rongrong HU ; Limeng CHEN ; Ji LI ; Xia HONG ; Yan ZHANG ; Yagang ZUO
JOURNAL OF RARE DISEASES 2025;4(1):75-82
A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in
10.Differences in growth and secondary metabolite accumulation of Panax quinquefolius between understory and field planting in Shandong, China.
Yue WANG ; Xin-Ying MAO ; Yu DING ; Hong-Xia YU ; Zhi-Fang RAN ; Xiao-Li CHEN ; Jie ZHOU
China Journal of Chinese Materia Medica 2025;50(6):1524-1533
In order to compare the differences in growth and secondary metabolite accumulation of Panax quinquefolius between understory and field planting, growth indexes, photosynthetic characteristics, soil enzyme activities, secondary metabolite contents, and antioxidant activities of P. quinquefolius under different planting modes were examined and compared, and One-way analysis of variance(ANOVA) and correlation analyses were carried out by using the software SPSS 25.0 and GraphPad Prism 9.5. The Origin 2021 software was used for plotting. The results showed that compared with those under field planting, the plant height, leaf length, leaf width, photosynthetic rate, and chlorophyll content of P. quinquefolius under understory planting were significantly reduced, and arbuscular mycorrhizal fungi(AMF) infestation rate and infestation intensity, ginsenoside content, and antioxidant activity were significantly increased. The activities of inter-root soil urease, sucrase, and catalase increased, while the activities of non-inter-root soil urease and alkaline phosphatase increased. Correlation analyses showed that the plant height and leaf length of P. quinquefolius plant were significantly positively correlated with net photosynthetic rate, transpiration rate, chlorophyll content, and electron transfer rate(P<0.05), while ginsenoside content was significantly negatively correlated with net photosynthetic rate, chlorophyll content, and electron transfer rate(P<0.05) and significantly positively correlated with AMF infestation rate and infestation intensity(P<0.05). In addition, ginsenoside content was significantly positively correlated with the activities of inter-root soil sucrase, urease, and catalase(P<0.05). This study provides basic data for revealing the mechanism of secondary metabolite accumulation in P. quinquefolius under understory planting and for exploring and practicing the ecological mode of P. quinquefolius under understory planting.
Panax/microbiology*
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China
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Secondary Metabolism
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Soil/chemistry*
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Photosynthesis
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Plant Leaves/metabolism*
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Chlorophyll/metabolism*
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Mycorrhizae


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