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1.
J Transl Med ; 21(1): 381, 2023 06 12.
Artículo en Inglés | MEDLINE | ID: mdl-37308973

RESUMEN

BACKGROUND: Diabetic kidney disease (DKD) is a severe complication of diabetes. Currently, no effective measures are available to reduce the risk of DKD progression. This study aimed to establish a weighted risk model to determine DKD progression and provide effective treatment strategies. METHODS: This was a hospital-based, cross-sectional study. A total of 1104 patients with DKD were included in this study. The random forest method was used to develop weighted risk models to assess DKD progression. Receiver operating characteristic curves were used to validate the models and calculate the optimal cutoff values for important risk factors. RESULTS: We developed potent weighted risk models to evaluate DKD progression. The top six risk factors for DKD progression to chronic kidney disease were hemoglobin, hemoglobin A1c (HbA1c), serum uric acid (SUA), plasma fibrinogen, serum albumin, and neutrophil percentage. The top six risk factors for determining DKD progression to dialysis were hemoglobin, HbA1c, neutrophil percentage, serum albumin, duration of diabetes, and plasma fibrinogen level. Furthermore, the optimal cutoff values of hemoglobin and HbA1c for determining DKD progression were 112 g/L and 7.2%, respectively. CONCLUSION: We developed potent weighted risk models for DKD progression that can be employed to formulate precise therapeutic strategies. Monitoring and controlling combined risk factors and prioritizing interventions for key risk factors may help reduce the risk of DKD progression.


Asunto(s)
Diabetes Mellitus , Nefropatías Diabéticas , Humanos , Hemoglobina Glucada , Estudios Transversales , Ácido Úrico , Fibrinógeno
2.
Magn Reson Med ; 90(5): 2089-2101, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37345702

RESUMEN

PURPOSE: To develop a machine learning-based method for estimation of both transmitter and receiver B1 fields desired for correction of the B1 inhomogeneity effects in quantitative brain imaging. THEORY AND METHODS: A subspace model-based machine learning method was proposed for estimation of B1t and B1r fields. Probabilistic subspace models were used to capture scan-dependent variations in the B1 fields; the subspace basis and coefficient distributions were learned from pre-scanned training data. Estimation of the B1 fields for new experimental data was achieved by solving a linear optimization problem with prior distribution constraints. We evaluated the performance of the proposed method for B1 inhomogeneity correction in quantitative brain imaging scenarios, including T1 and proton density (PD) mapping from variable-flip-angle spoiled gradient-echo (SPGR) data as well as neurometabolic mapping from MRSI data, using phantom, healthy subject and brain tumor patient data. RESULTS: In both phantom and healthy subject data, the proposed method produced high-quality B1 maps. B1 correction on SPGR data using the estimated B1 maps produced significantly improved T1 and PD maps. In brain tumor patients, the proposed method produced more accurate and robust B1 estimation and correction results than conventional methods. The B1 maps were also applied to MRSI data from tumor patients and produced improved neurometabolite maps, with better separation between pathological and normal tissues. CONCLUSION: This work presents a novel method to estimate B1 variations using probabilistic subspace models and machine learning. The proposed method may make correction of B1 inhomogeneity effects more robust in practical applications.


Asunto(s)
Neoplasias Encefálicas , Imagen por Resonancia Magnética , Humanos , Imagen por Resonancia Magnética/métodos , Algoritmos , Encéfalo/diagnóstico por imagen , Mapeo Encefálico/métodos , Neoplasias Encefálicas/diagnóstico por imagen , Fantasmas de Imagen , Protones , Procesamiento de Imagen Asistido por Computador/métodos
3.
Graefes Arch Clin Exp Ophthalmol ; 261(4): 1011-1017, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36378338

RESUMEN

BACKGROUND: This study aimed to observe the changes in the ocular surface after phacoemulsification in patients with age-related cataracts with respect to the addition of varying concentrations of hyaluronate. METHODS: Patients with dry eye syndrome were treated with 0.3% and 0.1% sodium hyaluronate eye drops to evaluate the clinical improvement in each treatment group. A total of 73 patients (91 eyes) with age-related cataracts suffering from dry eye syndrome after phacoemulsification were divided into treatment group A (30 eyes), undergoing conventional therapy and treatment with 0.3% sodium hyaluronate; treatment group B (31 eyes), undergoing conventional therapy and treatment with 0.1% sodium hyaluronate; and the control group (group C; 30 eyes), undergoing conventional therapy only. Two groups were given different concentrations of sodium hyaluronate eye drops four times a day (should be completed between 8 AM and 8 PM), one drop at a time. RESULTS: Seven days, 2 weeks, 1 month, and 2 months postoperatively, there were significant differences in the Schirmer I test (SIt), first noninvasive tear film break-up time (NIBUTf), average noninvasive tear film break-up time (NIBUTav), tear meniscus height (TMH), and irregularity (when the refractive force of different parts of different meridians on the same meridian is different. The main manifestation is that the two meridians on the anterior surface of the cornea do not show a 90-degree vertical distribution, which cannot be corrected by conventional astigmatism lenses) between the three groups (p < 0.05). When compared with group C, there were significant differences in the SIt, NIBUTf, NIBUTav, TMH, and irregularity of group A and group B (p < 0.05). When compared with group B, there were significant improvements in the SIt, NIBUTf, NIBUTav, and TMH in group A (p < 0.05). CONCLUSIONS: In the early stage after phacoemulsification, the stability of the tear film is reduced. Adding sodium hyaluronate eye drops can restore tear film structure and improve corneal surface regularity, and a 0.3% solution of sodium hyaluronate eye drops is more effective than a 0.1% solution.


Asunto(s)
Catarata , Síndromes de Ojo Seco , Humanos , Ácido Hialurónico , Síndromes de Ojo Seco/diagnóstico , Síndromes de Ojo Seco/tratamiento farmacológico , Síndromes de Ojo Seco/etiología , Lágrimas/química , Soluciones Oftálmicas
4.
BMC Geriatr ; 23(1): 825, 2023 12 08.
Artículo en Inglés | MEDLINE | ID: mdl-38066473

RESUMEN

BACKGROUND: Prior studies suggested that antidepressant use is associated with an increased risk of dementia compared to no use, which is subject to confounding by indication. We aimed to compare the dementia risk among older adults with depression receiving first-line antidepressants (i.e., SSRI/SNRI) versus psychotherapy, which is also considered the first-line therapy for depression. METHODS: This retrospective cohort study was conducted using the US Medical Expenditure Panel Survey from 2010 to 2019. We included adults aged ≥ 50 years diagnosed with depression who initiated SSRI/SNRI or psychotherapy. We excluded patients with a dementia diagnosis before the first record of SSRI/SNRI use or psychotherapy. The exposure was the patient's receipt of SSRI/SNRI (identified from self-report questionnaires) or psychotherapy (identified from the Outpatient Visits or Office-Based Medical Provider Visits files). The outcome was a new diagnosis of dementia within 2 years (i.e., survey panel period) identified using ICD-9/ICD-10 codes from the Medical Conditions file. Using a multivariable logistic regression model, we reported adjusted odds ratios (aORs) with 95% confidence intervals (CIs). We also conducted subgroup analyses by patient sex, age group, race/ethnicity, severity of depression, combined use of other non-SSRI/SNRI antidepressants, and presence of underlying cognitive impairment. RESULTS: Among 2,710 eligible patients (mean age = 61 ± 8, female = 69%, White = 84%), 89% used SSRIs/SNRIs, and 11% received psychotherapy. The SSRI/SNRI users had a higher crude incidence of dementia than the psychotherapy group (16.4% vs. 11.8%), with an aOR of 1.36 (95% CI = 1.06-1.74). Subgroup analyses yielded similar findings as the main analyses, except no significant association for patients who were aged < 65 years (1.23, 95% CI = 0.93-1.62), male (1.34, 95% CI = 0.95-1.90), Black (0.76, 95% CI = 0.48-1.19), had a higher PHQ-2 (1.39, 95% CI = 0.90-2.15), and had underlying cognitive impairment (1.06, 95% CI = 0.80-1.42). CONCLUSIONS: Our findings suggested that older adults with depression receiving SSRIs/SNRIs were associated with an increased dementia risk compared to those receiving psychotherapy.


Asunto(s)
Demencia , Inhibidores de Captación de Serotonina y Norepinefrina , Humanos , Masculino , Femenino , Anciano , Inhibidores Selectivos de la Recaptación de Serotonina/efectos adversos , Estudios Retrospectivos , Antidepresivos/efectos adversos , Demencia/diagnóstico , Demencia/epidemiología , Demencia/terapia
5.
Magn Reson Med ; 88(5): 2198-2207, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35844075

RESUMEN

PURPOSE: To obtain high-quality T 2 ' $$ {\mathrm{T}}_2^{\prime } $$ maps of brain tissues from water-unsuppressed magnetic resonance spectroscopic imaging (MRSI) and turbo spin-echo (TSE) data. METHODS: T 2 ' $$ {\mathrm{T}}_2^{\prime } $$ mapping can be achieved using T 2 * $$ {\mathrm{T}}_2^{\ast } $$ mapping from water-unsuppressed MRSI data and T 2 $$ {\mathrm{T}}_2 $$ mapping from TSE data. However, T 2 * $$ {\mathrm{T}}_2^{\ast } $$ mapping often suffers from signal dephasing and distortions caused by B 0 $$ {\mathrm{B}}_0 $$ field inhomogeneity; T 2 $$ {\mathrm{T}}_2 $$ measurements may be biased due to system imperfections, especially for T 2 $$ {\mathrm{T}}_2 $$ -weighted image with small number of TEs. In this work, we corrected the B 0 $$ {\mathrm{B}}_0 $$ field inhomogeneity effect on T 2 * $$ {\mathrm{T}}_2^{\ast } $$ mapping using a subspace model-based method, incorporating pre-learned spectral basis functions of the water signals. T 2 $$ {\mathrm{T}}_2 $$ estimation bias was corrected using a TE-adjustment method, which modeled the deviation between measured and reference T 2 $$ {\mathrm{T}}_2 $$ decays as TE shifts. RESULTS: In vivo experiments were performed to evaluate the performance of the proposed method. High-quality T 2 * $$ {\mathrm{T}}_2^{\ast } $$ maps were obtained in the presence of large field inhomogeneity in the prefrontal cortex. Bias in T 2 $$ {\mathrm{T}}_2 $$ measurements obtained from TSE data was effectively reduced. Based on the T 2 * $$ {\mathrm{T}}_2^{\ast } $$ and T 2 $$ {\mathrm{T}}_2 $$ measurements produced by the proposed method, high-quality T 2 ' $$ {\mathrm{T}}_2^{\prime } $$ maps were obtained, along with neurometabolite maps, from MRSI and TSE data that were acquired in about 9 min. The results obtained from acute stroke and glioma patients demonstrated the feasibility of the proposed method in the clinical setting. CONCLUSIONS: High-quality T 2 ' $$ {\mathrm{T}}_2^{\prime } $$ maps can be obtained from water-unsuppressed 1 H-MRSI and TSE data using the proposed method. With further development, this method may lay a foundation for simultaneously imaging oxygenation and neurometabolic alterations of brain disorders.


Asunto(s)
Algoritmos , Agua , Encéfalo/diagnóstico por imagen , Mapeo Encefálico/métodos , Humanos , Imagen por Resonancia Magnética/métodos
6.
Clin Exp Allergy ; 52(1): 46-58, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-33999474

RESUMEN

BACKGROUND: Allergic asthma is a common inflammatory lung disease and a major health problem worldwide. Mast cells (MCs) play a key role in the early-stage pathophysiology of allergic asthma. Substance P (SP) functions in neurogenic inflammation by activating MCs, and therefore, it may to participate in the occurrence and development of asthma. OBJECTIVE: We examined the relationship between SP and lung inflammation, and also whether SP can directly trigger asthma. METHODS: We measured the number of peripheral blood eosinophils, neutrophils and basophils and evaluated the levels of IgE and SP in blood samples of 86 individuals with allergic asthma. Serum IgE and SP levels were also determined in 29 healthy individuals. C57BL/6 mice were subjected to different doses of SP, and bronchoalveolar lavage fluid (BALF) was collected to count the inflammatory cells. Lung tissues were analysed using histopathological methods to evaluate lung peribronchial inflammation, fibrosis and glycogen deposition. Levels of IgE, interleukin (IL)-1, IL-2, IL-4, IL-5, IL-13, IL-17 and IFN-γ were determined in mouse serum. RESULTS: Substance P levels were increased in the serum samples of patients with asthma. SP induced mouse lung peribronchial inflammation, fibrosis and glycogen deposition, with high levels of Th2-related cytokines such as IL-4, IL-5 and IL-13 observed in the BALF. Furthermore, low level of total IgE was noted in the serum, and SP had little effect on MC-deficient kitW-sh/W-sh mice. CONCLUSIONS & CLINICAL RELEVANCE: Substance P levels increased significantly in serum of asthmatic patients and independently associated with the risk of asthma. Furthermore, SP induced Th2 lung inflammation in mice, which was dependent on MCs.


Asunto(s)
Neumonía , Sustancia P , Animales , Líquido del Lavado Bronquioalveolar , Citocinas , Modelos Animales de Enfermedad , Humanos , Pulmón , Mastocitos , Ratones , Ratones Endogámicos C57BL , Neumonía/patología
7.
Neurol Sci ; 43(4): 2735-2743, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34669083

RESUMEN

Early studies have indicated that the risk of migraine is contributed by both genetic and environmental factors. We aimed to evaluate the association between the risk of migraine and genetic polymorphisms in the ANKDD1B gene in a large sample of Chinese Han populations. A total of 882 patients with MO and 1,784 age-matched controls were recruited. A list of 12 tag SNPs located within the ANKDD1B gene region was genotyped. Distributions of SNP genotypes and alleles between patients and controls were examined to investigate the associations between the risk of migraine and genetic polymorphisms. The GTEx database was used to examine the effects of the significant SNPs on gene expressions. A stop-gain SNP, rs34358, was discovered to be significantly related with the risk of migraine (χ2 = 25.02, P = 5.66 × 10-7). The A allele of this SNP was significantly associated with a decreased risk of migraine (OR [95% CI] = 0.73 [0.65-0.83]). A dose-dependent pattern was identified in the genotypic analyses. The OR with 95% confidence interval for genotype AA versus GG was 0.55 [0.42-0.72], while for AG versus GG it was 0.74 [0.62-0.88]. Further bioinformatics analysis showed multiple significant signals (20 out of 47) for the association between SNP rs34358 and gene expression levels of ANKDD1B. In conclusion, we have provided population-based evidence for the association between genetic polymorphisms of the ANKDD1B gene and the risk of migraine. A protein-truncating variant was significantly associated with a decreased risk of migraine in the samples recruited from the Chinese Han population.


Asunto(s)
Pueblo Asiatico , Etnicidad , Predisposición Genética a la Enfermedad , Péptidos y Proteínas de Señalización Intracelular , Trastornos Migrañosos , Polimorfismo de Nucleótido Simple , Proteínas Supresoras de Tumor , Alelos , Pueblo Asiatico/genética , Estudios de Casos y Controles , China , Etnicidad/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Trastornos Migrañosos/genética , Polimorfismo de Nucleótido Simple/genética , Proteínas Supresoras de Tumor/genética
8.
Brain ; 143(11): 3225-3233, 2020 12 05.
Artículo en Inglés | MEDLINE | ID: mdl-33141145

RESUMEN

Impaired oxygen and cellular metabolism is a hallmark of ischaemic injury in acute stroke. Magnetic resonance spectroscopic imaging (MRSI) has long been recognized as a potentially powerful tool for non-invasive metabolic imaging. Nonetheless, long acquisition time, poor spatial resolution, and narrow coverage have limited its clinical application. Here we investigated the feasibility and potential clinical utility of rapid, high spatial resolution, near whole-brain 3D metabolic imaging based on a novel MRSI technology. In an 8-min scan, we simultaneously obtained 3D maps of N-acetylaspartate and lactate at a nominal spatial resolution of 2.0 × 3.0 × 3.0 mm3 with near whole-brain coverage from a cohort of 18 patients with acute ischaemic stroke. Serial structural and perfusion MRI was used to define detailed spatial maps of tissue-level outcomes against which high-resolution metabolic changes were evaluated. Within hypoperfused tissue, the lactate signal was higher in areas that ultimately infarcted compared with those that recovered (P < 0.0001). Both lactate (P < 0.0001) and N-acetylaspartate (P < 0.001) differed between infarcted and other regions. Within the areas of diffusion-weighted abnormality, lactate was lower where recovery was observed compared with elsewhere (P < 0.001). This feasibility study supports further investigation of fast high-resolution MRSI in acute stroke.


Asunto(s)
Imagenología Tridimensional/métodos , Accidente Cerebrovascular Isquémico/diagnóstico por imagen , Accidente Cerebrovascular Isquémico/metabolismo , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/métodos , Neuroimagen/métodos , Adulto , Anciano , Anciano de 80 o más Años , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Estudios de Cohortes , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Ácido Láctico/metabolismo , Masculino , Persona de Mediana Edad , Imagen de Perfusión/métodos , Estudios Prospectivos , Marcadores de Spin
9.
Eur J Epidemiol ; 36(2): 223-232, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33420871

RESUMEN

The large-scale Xi'an longitudinal mother-child cohort study has started to enroll pregnant women who attended Northwest Women's and Children's Hospital (NWCH) for antenatal care in early pregnancy (less than 20 weeks' gestation) from January 2013 and the enrollment will be ended in January 2023. We aimed to investigate the role of external factors (i.e., diet and environment) and internal (i.e., biological, genetic and epigenetic) on the short- and long-term outcomes of mothers and children up to at least 12 years. Mothers completed all routine prenatal care during pregnancy and four times of follow-up at 42 days, 3, 6 and 12 years after delivery, respectively. For children, birth information were obtained from routine medical records and the follow-up information were obtained from child health care clinics of NWCH at age 42 days, 6, 12 and 24 months, then by interviewing mothers every two years until 12 years old. A range of data (including biological, demographic, birth outcomes/birth defects and nutritional factors from both maternal and off-spring) were collected by both interviews and laboratory tests. By June 30th 2019, a total of 114,946 mothers and 124,454 live births had been recruited.


Asunto(s)
Relaciones Madre-Hijo , Obesidad , Vigilancia de la Población/métodos , Adolescente , Adulto , Niño , Estudios de Cohortes , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Embarazo , Adulto Joven
10.
Am J Med Genet B Neuropsychiatr Genet ; 183(3): 164-171, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31840934

RESUMEN

WBP1L is a target of microRNA 137 (miR-137) and has been considered a candidate gene for schizophrenia (SCZ). To investigate the relationships between WBP1L and SCZ and its related symptom scales, a total of 5,993 Chinese Han subjects, including 2,128 SCZ patients and 3,865 controls, were enrolled. In addition, an independent sample set for replication study including 1,052 SCZ patients and 2,124 controls were also recruited. Thirty-two tag single nucleotide polymorphisms (SNPs) located within gene region of WBP1L were selected for genotyping and analyzing. The expression quantitative trait loci (eQTL) effects for the targeted SNPs were investigated with gene expression data from multiple human tissues. Rs4147157 (OR = 0.84, p = 1.51 × 10-5 ) and rs284854 (OR = 1.14, p = 7.00 × 10-4 ) were significantly associated with SCZ disease status and these association signals were replicated in our replication sample. A significant association was identified between rs4147157 and the general (ß = -.66, p = .001) and total (ß = -.8, p = .0042) scores of positive and negative syndrome scale scores in SCZ patients. Both SNPs were significant eQTL for genes around WBP1L in human brain tissues including ARL3 and AS3MT. To conclude, SNPs rs4147157 and rs284854 were associated with SCZ in the Chinese Han population. Additionally, rs4147157 was significantly associated with specific symptom features of SCZ.


Asunto(s)
Proteínas de la Membrana/genética , Escalas de Valoración Psiquiátrica , Esquizofrenia/genética , Dominios WW , Adulto , Alelos , Encéfalo/metabolismo , Estudios de Casos y Controles , China , Biología Computacional , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Adulto Joven
11.
Biomarkers ; 24(2): 120-126, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30442069

RESUMEN

CONTEXT: Osteoporosis (OP) is a progressive systemic bone disease. Dual-energy X-ray absorptiometry (DXA) is routinely employed and is considered the gold standard method for the diagnosis of OP. OBJECTIVE: We aimed to investigate the potential use of combined information from multiple bone turnover markers (BTMs) as a clinical diagnostic tool for OP. MATERIALS AND METHODS: A total of 9053 Chinese postmenopausal women (2464 primary OP patients and 6589 healthy controls) were recruited. Serum levels of six common BTMs, including BAP, BSP, CTX, OPG, OST and sRANKL were assayed. Models based on support vector machine (SVM) were constructed to explore the efficiency of different combinations of multiple BTMs for OP diagnosis. RESULTS: Increasing the number of BTMs used in generating the models increased the predictive power of the SVM models for determining the disease status of study subjects. The highest kappa coefficient for the model with one BTM (BAP) compared to DXA was 0.7783. The full model incorporating all six BTMs resulted in a high kappa coefficient of 0.9786. CONCLUSION: Our findings showed that although single BTMs were not sufficient for OP diagnosis, appropriate combinations of multiple BTMs incorporated into the SVM models showed almost perfect agreement with the DXA.


Asunto(s)
Biomarcadores/sangre , Remodelación Ósea/genética , Osteoporosis/sangre , Absorciometría de Fotón , Anciano , Densidad Ósea/genética , China/epidemiología , Enzimas de Restricción del ADN/sangre , Femenino , Factores de Intercambio de Guanina Nucleótido/sangre , Humanos , Persona de Mediana Edad , Osteoporosis/diagnóstico por imagen , Osteoporosis/patología , Ligando RANK/sangre , Factores de Intercambio de Guanina Nucleótido Rho/sangre , Máquina de Vectores de Soporte
12.
Hum Mol Genet ; 23(19): 5271-82, 2014 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-24833718

RESUMEN

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a related gene, fibrillin-2 (FBN2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, rare variants in FBN1 and FBN2 were enriched in severely affected AIS cases (7.6%) compared with in-house controls (2.4%) (OR = 3.5, P = 5.46 × 10(-4)) and Exome Sequencing Project controls (2.3%) (OR = 3.5, P = 1.48 × 10(-6)). Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P = 0.0012) and replicated in an independent Han Chinese cohort (P = 0.0376), suggesting that rare variants may be useful as predictors of curve progression. Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P = 0.0035) and upregulation of the transforming growth factor beta pathway. Overall, these results expand our definition of fibrillin-related disorders to include AIS and open up new strategies for diagnosing and treating severe AIS.


Asunto(s)
Variación Genética , Proteínas de Microfilamentos/genética , Escoliosis/genética , Adolescente , Adulto , Alelos , Sustitución de Aminoácidos , Estudios de Casos y Controles , Niño , Femenino , Fibrilina-1 , Fibrilina-2 , Fibrilinas , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Oportunidad Relativa , Músculos Paraespinales/metabolismo , Fosforilación , Grupos Raciales/genética , Escoliosis/diagnóstico , Escoliosis/metabolismo , Índice de Severidad de la Enfermedad , Proteína Smad2/metabolismo , Adulto Joven
13.
Am J Med Genet B Neuropsychiatr Genet ; 171(8): 1105-1111, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27573569

RESUMEN

Schizophrenia (SCZ) is a complex neuropsychiatric disorder with high heritability. Abnormal gene methylation was found to play a key role in the development of SCZ, suggesting that histone deacetylases (HDACs) may increase the expression of several key genes in the brain. However, recent studies evaluating the association between SCZ and genetic polymorphisms in histone deacetylase 3 (encoded by HDAC3) have shown conflicting results. In this study, we designed a two-stage case-control study to investigate the association of the HDAC3 with SCZ. Fourteen tag single nucleotide polymorphisms (SNPs) entirely covering the region of HDAC3 were analyzed in the testing group of 1,421 patients and 2,823 healthy controls, and the SNP rs14251 was found to be significant (and rs2530223 to be nominally significant). The significant result of rs14251 was successfully replicated in the validation group consisting of 896 cases and 1,815 healthy controls (P = 0.009276, OR = 1.219), and also confirmed by haplotype based analyses (rs976552-rs14251, global P < 0.001). To sum up, our results provide additional evidence that HDAC3 confers the increasing risk of SCZ susceptibility in Han Chinese individuals, suggesting this gene as a potential genetic modifier for SCZ development. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Histona Desacetilasas/genética , Esquizofrenia/genética , Adulto , Pueblo Asiatico/genética , Estudios de Casos y Controles , China , Etnicidad/genética , Femenino , Frecuencia de los Genes/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad/genética , Haplotipos , Histona Desacetilasas/metabolismo , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo
14.
Zhong Yao Cai ; 39(7): 1554-8, 2016 Jul.
Artículo en Zh | MEDLINE | ID: mdl-30204359

RESUMEN

Objective: To study the chemical constituents of Stauntonia chinensis. Methods: The chemical constituents were isolated and purified by column chromatography on silica gel,ODS,Sephadex LH-20 and MPLC. Their structures were elucidated on the basis of physicochemical properties and special analysis. Results: Seven compounds were isolated from the leaves of Stauntonia chinensis,whose structures were elucidated as 3-O-ß-D-glucopyranosyl-( 1 →3)-[ß-D-xylopyranosyl-( 1 →2) ]-α-L-arabinopyranosyl-28-O-[α-L-rhamnopyranosyl-( 1 →4)-ß-D-glucopyranosyl-( 1 →6)-ß-D-glucopyranosyl]-3ß-hydroxy-30-norolean-12,20( 29)-dien-28-oic acid( 1),3-[( O-ß-D-glucopyranosyl-( 1→3)-[α-L-rhamnopyranosyl-( 1 →2) ]-α-L-arabinopyranosyl) oxy]-30-norolean-12,20( 29)-dien-28-oic acid O-ß-D-glucopyranosyl-( 1 → 6)-ß-D-glucopyranosyl ester( 2),3-O-ß-D-[( α-L-xylopyranosyl-( 1 → 2)-O-α-L-arabinopyranosyl)oxy]-30-norolean-12-en-28-oic acid α-L-rhamnopyranosyl-( 1 → 4)-O-ß-D-glucopyranosyl-( 1 → 6)-O-ß-D-glucopyranosyl ester( 3), yemuoside YM27( 4), yemuoside YM21( 5),yemuoside YM10( 6) and yemuoside YM7( 7). Conclusion: Compounds 1 ~ 3 are isolated from this plant for the first time.


Asunto(s)
Espectroscopía de Resonancia Magnética , Tracheophyta , Estructura Molecular , Hojas de la Planta , Saponinas , Triterpenos
15.
Birth Defects Res A Clin Mol Teratol ; 103(10): 857-62, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26278207

RESUMEN

BACKGROUND: The forkhead box F2 gene (FOXF2) located in chromosome 6p25.3 has been shown to play a crucial role in palatal development in mouse and rat models. To date, no evidence of linkage or association has been reported for this gene in humans with oral clefts. METHODS: Allelic transmission disequilibrium tests were used to robustly assess evidence of linkage and association with nonsyndromic cleft lip with or without cleft palate for nine single nucleotide polymorphisms (SNPs) in and around FOXF2 in both Asian and European trios using PLINK. RESULTS: Statistically significant evidence of linkage and association was shown for two SNPs (rs1711968 and rs732835) in 216 Asian trios where the empiric P values with permutation tests were 0.0016 and 0.005, respectively. The corresponding estimated odds ratios for carrying the minor allele at these SNPs were 2.05 (95% confidence interval = 1.41, 2.98) and 1.77 (95% confidence interval = 1.26, 2.49), respectively. CONCLUSION: Our results provided statistical evidence of linkage and association between FOXF2 and nonsyndromic cleft lip with or without cleft palate.


Asunto(s)
Cromosomas Humanos Par 6/genética , Labio Leporino/genética , Fisura del Paladar/genética , Factores de Transcripción Forkhead/genética , Polimorfismo de Nucleótido Simple , Adulto , Animales , Pueblo Asiatico , Femenino , Humanos , Masculino , Ratones , Ratas
16.
J Med Genet ; 51(5): 334-9, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24667120

RESUMEN

BACKGROUND: Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS: The DNA of 396 isolated clubfoot patients and 1000 controls of European descent was genotyped for >600 000 single nucleotide polymorphisms (SNP) using the Affymetrix 6.0 array. Replication was performed with an independent cohort of 370 isolated clubfoot cases and 363 controls of European descent. RESULTS: Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻5) that was significant on replication (combined OR=0.63, p=1.90×10⁻7). Additional suggestive SNPs were identified near FOXN3, SORCS1 and MMP7/TMEM123 that also confirmed on replication. CONCLUSIONS: Our study suggests a potential role for common genetic variation in several genes that have not previously been implicated in clubfoot pathogenesis.


Asunto(s)
Pie Equinovaro/genética , Estudio de Asociación del Genoma Completo , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , Proteínas de Ciclo Celular/genética , Cromosomas Humanos Par 12 , Factores de Transcripción Forkhead , Sitios Genéticos , Predisposición Genética a la Enfermedad , Humanos , Metaloproteinasa 7 de la Matriz/genética , Co-Represor 2 de Receptor Nuclear/genética , Receptores de Superficie Celular/genética , Proteínas Represoras/genética , Población Blanca/genética
17.
Zhong Yao Cai ; 38(10): 2102-4, 2015 Oct.
Artículo en Zh | MEDLINE | ID: mdl-27254924

RESUMEN

OBJECTIVE: To study the chemical constituents of stem of Camellia oleifera. METHODS: The chemical constituents were isolated and purified by column chromatography on silica gel, ODS, Sephadex LH-20 and MPLC. Their structures were elucidated on the basis of physicochemical properties and special analysis. RESULTS: Seven compounds were isolated from the stem of Camellia oleifera, whose structures were elucidated as (-) -pinoresinol (1), (-) -medioresinol (2), skullcapflavone II (3), betulinic acid (4), ursolic acid (5), 3-O-ß-D-glucopyranosyl- (1 --> 2) -ß-D-xylopyransoyl-(1 --> 3) -[ß-D-glucopyranosyl- (1 --> 2)] -ß-D-glucuronopyranosyl-22α-angeloyloxyolean-12-ene-15α,16α,28-triol (6) and oleanolic acid (7). CONCLUSION: Compounds 1 - 6 are isolated from this plant for the first time, and compounds 1 - 3 are isolated from this genus for the first time.


Asunto(s)
Camellia/química , Medicamentos Herbarios Chinos/química , Fitoquímicos/análisis , Tallos de la Planta/química , Flavonoides/aislamiento & purificación , Furanos/aislamiento & purificación , Lignanos/aislamiento & purificación , Ácido Oleanólico/aislamiento & purificación , Triterpenos Pentacíclicos , Fitoquímicos/aislamiento & purificación , Plantas Medicinales/química , Triterpenos/aislamiento & purificación , Ácido Betulínico , Ácido Ursólico
18.
Front Public Health ; 12: 1296939, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38292908

RESUMEN

Aims: The current study aims to investigate the consistency between the surveyees' self-reported disease diagnosis and clinical assessment of eight major chronic conditions using community-based survey data collected in Xi'an, China in 2017. With a focus on under-reporting patients, we aim to explore its magnitude and associated factors, to provide an important basis for disease surveillance, health assessment and resource allocation, and public health decision-making and services. Methods: Questionnaires were administered to collect self-reported chronic condition prevalence among the study participants, while physical examinations and laboratory tests were conducted for clinical assessment. For each of the eight chronic conditions, the sensitivity, specificity, under-reporting, over-reporting, and agreement were calculated. Log-binomial regression analysis was employed to identify potential factors that may influence the consistency of chronic condition reporting. Results: A total of 2,272 participants were included in the analysis. Four out of the eight chronic conditions displayed under-reporting exceeding 50%. The highest under-reporting was observed for goiter [85.93, 95% confidence interval (CI): 85.25-86.62%], hyperuricemia (83.94, 95% CI: 83.22-84.66%), and thyroid nodules (72.89, 95% CI: 72.02-73.76%). Log-binomial regression analysis indicated that senior age and high BMI were potential factors associated with the under-reporting of chronic condition status in the study population. Conclusion: The self-reported disease diagnosis by respondents and clinical assessment data exhibit significant inconsistency for all eight chronic conditions. Large proportions of patients with multiple chronic conditions were under-reported in Xi'an, China. Combining relevant potential factors, targeted health screenings for high-risk populations might be an effective method for identifying under-reporting patients.


Asunto(s)
Autoinforme , Humanos , Factores de Riesgo , Encuestas y Cuestionarios , Enfermedad Crónica , China/epidemiología
19.
J Imaging ; 10(5)2024 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-38786568

RESUMEN

Aphid infestations are one of the primary causes of extensive damage to wheat and sorghum fields and are one of the most common vectors for plant viruses, resulting in significant agricultural yield losses. To address this problem, farmers often employ the inefficient use of harmful chemical pesticides that have negative health and environmental impacts. As a result, a large amount of pesticide is wasted on areas without significant pest infestation. This brings to attention the urgent need for an intelligent autonomous system that can locate and spray sufficiently large infestations selectively within the complex crop canopies. We have developed a large multi-scale dataset for aphid cluster detection and segmentation, collected from actual sorghum fields and meticulously annotated to include clusters of aphids. Our dataset comprises a total of 54,742 image patches, showcasing a variety of viewpoints, diverse lighting conditions, and multiple scales, highlighting its effectiveness for real-world applications. In this study, we trained and evaluated four real-time semantic segmentation models and three object detection models specifically for aphid cluster segmentation and detection. Considering the balance between accuracy and efficiency, Fast-SCNN delivered the most effective segmentation results, achieving 80.46% mean precision, 81.21% mean recall, and 91.66 frames per second (FPS). For object detection, RT-DETR exhibited the best overall performance with a 61.63% mean average precision (mAP), 92.6% mean recall, and 72.55 on an NVIDIA V100 GPU. Our experiments further indicate that aphid cluster segmentation is more suitable for assessing aphid infestations than using detection models.

20.
Mol Vis ; 19: 2590-5, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24379646

RESUMEN

PURPOSE: To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract. METHODS: Linkage analysis was performed for the known candidate genes and whole-exome sequencing was used in two affected family members to screen for potential genetic mutations; Sanger sequencing was used to verify the mutations throughout family. RESULTS: A novel beaded filament structural protein 1 (BFSP1) gene missense mutation was identified. Direct sequencing revealed a heterozygous G>A transversion at c.1042 of the coding sequence in exon 7 of BFSP1 (c.1042G>A) in all affected members, which resulted in the substitution of a wild-type aspartate to an asparagine (D348N). This mutation was neither seen in unaffected family members nor in 200 unrelated people as controls. CONCLUSIONS: A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. This is the first report of autosomal dominant congenital cataract being associated with a mutation in BFSP1, highlighting the important role of BFSP1 for physiological lens function and optical properties.


Asunto(s)
Catarata/genética , Exones , Proteínas del Ojo/genética , Proteínas de Filamentos Intermediarios/genética , Mutación Missense , Adulto , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Animales , Pueblo Asiatico , Asparagina/genética , Asparagina/metabolismo , Ácido Aspártico/genética , Ácido Aspártico/metabolismo , Estudios de Casos y Controles , Catarata/congénito , Catarata/etnología , Catarata/patología , Femenino , Ligamiento Genético , Genotipo , Humanos , Cristalino/metabolismo , Cristalino/patología , Masculino , Datos de Secuencia Molecular , Linaje , Alineación de Secuencia , Análisis de Secuencia de ADN
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