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1.
Molecules ; 29(9)2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38731551

RESUMO

The aim of this study is to solve the problems of the complicated pretreatment and high analytical cost in the detection technology of trace drugs and their metabolites in municipal wastewater. A high-performance magnetic sorbent was fsynthesized for the enrichment of trace drugs and their metabolites in wastewater to develop a magnetic solid-phase extraction pretreatment combined with the acoustic ejection mass spectrometry (AEMS) analytical method. The magnetic nanospheres were successfully prepared by magnetic nanoparticles modified with divinylbenzene and vinylpyrrolidone. The results showed that the linear dynamic range of 17 drugs was 1-500 ng/mL, the recovery was 44-100%, the matrix effect was more than 51%, the quantification limit was 1-2 ng/mL, and the MS measurement was fast. It can be seen that the developed magnetic solid-phase extraction (MSPE) method is a good solution to the problems of the complicated pretreatment and analytical cost in the analysis of drugs in wastewater. The developed magnetic material and acoustic excitation pretreatment coupled with mass spectrometry analysis method can realize the low-cost, efficient enrichment, and fast analysis of different kinds of drug molecules in urban sewage.


Assuntos
Drogas Ilícitas , Espectrometria de Massas , Esgotos , Extração em Fase Sólida , Esgotos/análise , Esgotos/química , Extração em Fase Sólida/métodos , Espectrometria de Massas/métodos , Drogas Ilícitas/análise , Poluentes Químicos da Água/análise , Águas Residuárias/análise , Águas Residuárias/química , Nanopartículas de Magnetita/química
2.
Zhongguo Zhong Yao Za Zhi ; 49(9): 2299-2307, 2024 May.
Artigo em Chinês | MEDLINE | ID: mdl-38812130

RESUMO

In the traditional Chinese medicine(TCM) manufacturing industry, quality control determines the safety, effectiveness, and quality stability of the final product. The traditional quality control method generally carries out sampling off-line testing of drugs after the end of the batch production, which is incomprehensive, and it fails to find the problems in the production process in time. Process analysis technology(PAT) uses process testing, mathematical modeling, data analysis, and other technologies to collect, analyze, feedback, control, and continuously improve the critical quality attributes(CQA) in all aspects of the production of TCM preparations in real time. The application of PAT in the TCM manufacturing industry is one of the research hotspots in recent years, which has the advantages of real-time, systematic, non-destructive, green, and rapid detection for the production quality control of TCM preparations. It can effectively ensure the stability of the quality of TCM preparations, improve production efficiency, and play a key role in the study of the quantity and quality transfer law of TCM. Commonly used PAT includes near-infrared spectroscopy, Raman spectroscopy, online microwave, etc. In addition, the establishment of an online detection model by PAT is the key basic work to realize intelligent manufacturing in TCM production. Obtaining real-time online detection data through PAT and establishing a closed-loop control model on this basis are a key common technical difficulty in the industry. This paper adopted systematic literature analysis to summarize the relevant Chinese and foreign literature, policies and regulations, and production applications, and it introduced the development trend and practical application of PAT, so as to provide references for accelerating the application of PAT in the TCM manufacturing industry, the intelligent transformation and upgrading, and high-quality development of the TCM industry.


Assuntos
Medicamentos de Ervas Chinesas , Medicina Tradicional Chinesa , Controle de Qualidade , Medicina Tradicional Chinesa/normas , Medicamentos de Ervas Chinesas/química , Medicamentos de Ervas Chinesas/normas , Medicamentos de Ervas Chinesas/análise , Tecnologia Farmacêutica/métodos , Tecnologia Farmacêutica/normas , Indústria Farmacêutica/normas
3.
Pain Med ; 24(Suppl 1): S48-S60, 2023 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-36315101

RESUMO

OBJECTIVE: Biomechanics represents the common final output through which all biopsychosocial constructs of back pain must pass, making it a rich target for phenotyping. To exploit this feature, several sites within the NIH Back Pain Consortium (BACPAC) have developed biomechanics measurement and phenotyping tools. The overall aims of this article were to: 1) provide a narrative review of biomechanics as a phenotyping tool; 2) describe the diverse array of tools and outcome measures that exist within BACPAC; and 3) highlight how leveraging these technologies with the other data collected within BACPAC could elucidate the relationship between biomechanics and other metrics used to characterize low back pain (LBP). METHODS: The narrative review highlights how biomechanical outcomes can discriminate between those with and without LBP, as well as among levels of severity of LBP. It also addresses how biomechanical outcomes track with functional improvements in LBP. Additionally, we present the clinical use case for biomechanical outcome measures that can be met via emerging technologies. RESULTS: To answer the need for measuring biomechanical performance, our "Results" section describes the spectrum of technologies that have been developed and are being used within BACPAC. CONCLUSION AND FUTURE DIRECTIONS: The outcome measures collected by these technologies will be an integral part of longitudinal and cross-sectional studies conducted in BACPAC. Linking these measures with other biopsychosocial data collected within BACPAC increases our potential to use biomechanics as a tool for understanding the mechanisms of LBP, phenotyping unique LBP subgroups, and matching these individuals with an appropriate treatment paradigm.


Assuntos
Dor Lombar , Humanos , Dor Lombar/diagnóstico , Estudos Transversais , Fenômenos Biomecânicos , Literatura de Revisão como Assunto
4.
Sensors (Basel) ; 23(23)2023 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-38067717

RESUMO

The quality assurance of bulk medicinal materials, crucial for botanical drug production, necessitates advanced analytical methods. Conventional techniques, including high-performance liquid chromatography, require extensive pre-processing and rely on extensive solvent use, presenting both environmental and safety concerns. Accordingly, a non-destructive, expedited approach for assessing both the chemical and physical attributes of these materials is imperative for streamlined manufacturing. We introduce an innovative method, designated as Squeeze-and-Excitation Residual Network Combined Hyperspectral Image Analysis (SE-ReHIA), for the swift and non-invasive assessment of the chemical makeup of bulk medicinal substances. In a demonstrative application, hyperspectral imaging in the 389-1020 nm range was employed in 187 batches of Salvia miltiorrhiza. Notable constituents such as salvianolic acid B, dihydrotanshinone I, cryptotanshinone, tanshinone IIA, and moisture were quantified. The SE-ReHIA model, incorporating convolutional layers, maxpooling layers, squeeze-and-excitation residual blocks, and fully connected layers, exhibited Rc2 values of 0.981, 0.980, 0.975, 0.972, and 0.970 for the aforementioned compounds and moisture. Furthermore, Rp2 values were ascertained to be 0.975, 0.943, 0.962, 0.957, and 0.930, respectively, signifying the model's commendable predictive competence. This study marks the inaugural application of SE-ReHIA for Salvia miltiorrhiza's chemical profiling, offering a method that is rapid, eco-friendly, and non-invasive. Such advancements can fortify consistency across botanical drug batches, underpinning product reliability. The broader applicability of the SE-ReHIA technique in the quality assurance of bulk medicinal entities is anticipated with optimism.


Assuntos
Medicamentos de Ervas Chinesas , Salvia miltiorrhiza , Salvia miltiorrhiza/química , Imageamento Hiperespectral , Reprodutibilidade dos Testes , Cromatografia Líquida de Alta Pressão/métodos
5.
Molecules ; 28(5)2023 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-36903585

RESUMO

The thermal analysis kinetic method was employed to solve the activation energies of the thermal decomposition reactions of urea and cyanuric acid, with the purpose of understanding the formation of deposits in the diesel engine SCR system. The deposit reaction kinetic model was established by optimizing the reaction paths and reaction kinetic parameters based on the thermal analysis test data of the key components in the deposit. The result shows that the established deposit reaction kinetic model can accurately describe the decomposition process of the key components in the deposit. Compared to the Ebrahimian model, the simulation precision of the established deposit reaction kinetic model is significantly improved above 600 K. The activation energies of the urea and cyanuric acid decomposition reactions are 84 kJ/mol and 152 kJ/mol, respectively, after model parameters identification. The identified activation energies were closest to those of the Friedman one-interval method indicating that the Friedman one-interval method is reasonable to solve the activation energies of deposit reactions.

6.
Proteomics ; 22(15-16): e2200064, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35695711

RESUMO

All cells incur DNA damage from exogenous and endogenous sources and possess pathways to detect and repair DNA damage. Post-translational modifications (PTMs), in the past 20 years, have risen to ineluctable importance in the study of the regulation of DNA repair mechanisms. For example, DNA damage response kinases are critical in both the initial sensing of DNA damage as well as in orchestrating downstream activities of DNA repair factors. Mass spectrometry-based proteomics revolutionized the study of the role of PTMs in the DNA damage response and has canonized PTMs as central modulators of nearly all aspects of DNA damage signaling and repair. This review provides a biologist-friendly guide for the mass spectrometry analysis of PTMs in the context of DNA repair and DNA damage responses. We reflect on the current state of proteomics for exploring new mechanisms of PTM-based regulation and outline a roadmap for designing PTM mapping experiments that focus on the DNA repair and DNA damage responses.


Assuntos
Processamento de Proteína Pós-Traducional , Proteômica , Dano ao DNA , Reparo do DNA , Espectrometria de Massas/métodos , Proteômica/métodos
7.
Zhongguo Zhong Yao Za Zhi ; 47(14): 3806-3815, 2022 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-35850838

RESUMO

To realize the real-time monitoring of the production process of Yangxue Qingnao Granules and improve the inter-batch consistency of granule quality in the granulation process, this study established a near-infrared quantitative prediction model of moisture, particle size, bulk density, and angle of repose in the fluidized bed granulation process of Yangxue Qingnao Granules based on near-infrared spectroscopy(NIRS). The near-infrared spectra were collected from 355 samples in 12 batches in the granulation process by integrating the sphere detection module of the near-infrared spectrometer. In combination with the pretreatment methods such as the first derivative, multiplicative scatter correction(MSC), and standard normal variate(SNV), the model was established by partial least squares(PLS) regression. The root mean square error of prediction(RMSEP) of moisture was 0.347 and R_P~2 was 0.935. The RMSEP of the D_(50) particle size model was 38.4 and R_P~2 was 0.980. The RMSEPs of bulk density and angle of repose were 0.018 8 and 0.879, with R_P~2 of 0.085 9 and 0.958. The results showed that the prediction of the PLS quantitative model combined with NIRS was accurate, and this model can be applied to the monitoring of key quality attributes in the fluidized bed granulation of Chinese medicinal granules in the production scale.


Assuntos
Espectroscopia de Luz Próxima ao Infravermelho , Análise dos Mínimos Quadrados , Tamanho da Partícula , Espectroscopia de Luz Próxima ao Infravermelho/métodos
8.
Zhongguo Zhong Yao Za Zhi ; 46(13): 3270-3287, 2021 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-34396746

RESUMO

The multi-component pharmacokinetic study of Chinese herbal extracts elaborates the in vivo processes,including absorption,distribution,metabolism,and excretion,of multiple bioactive components,which is of significance in revealing pharmacodynamic material basis of Chinese herbal medicine. In recent years,with the innovation in ideas,and development of techniques and methods on traditional Chinese medicine( TCM) research,the pharmacokinetic studies of Chinese herbal extracts were extensively performed,and notable progress has been made. This paper reviewed the advancement of multi-component pharmacokinetics of Chinese herbal extracts in recent five years from analysis technology of biological sample,the pharmacokinetic characteristics of Chinese herbal medicine with complex system,and the impacts of processing and pathological state on pharmacokinetics of Chinese herbal extracts,aiming to provide a reference for quality control,product development and rational medication of Chinese herbal extracts.


Assuntos
Medicamentos de Ervas Chinesas , China , Humanos , Medicina Tradicional Chinesa , Controle de Qualidade
9.
Am J Med Genet A ; 182(2): 303-313, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31854143

RESUMO

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.


Assuntos
Anormalidades Múltiplas/epidemiologia , Face/anormalidades , Síndrome de Noonan/epidemiologia , Síndrome de Turner/epidemiologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Povo Asiático/genética , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Face/patologia , Reconhecimento Facial , Feminino , Hispânico ou Latino/genética , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Síndrome de Noonan/fisiopatologia , Fenótipo , Vigilância da População , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologia , População Branca/genética , Adulto Jovem
10.
Am J Med Genet A ; 182(12): 2939-2950, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32985117

RESUMO

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.


Assuntos
Proteína p300 Associada a E1A/genética , Etnicidade/genética , Face/anormalidades , Genética Populacional , Mutação , Síndrome de Rubinstein-Taybi/epidemiologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Estudos de Associação Genética , Humanos , Lactente , Agências Internacionais , Masculino , Pessoa de Meia-Idade , Prognóstico , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/patologia , Adulto Jovem
11.
Zhongguo Zhong Yao Za Zhi ; 45(12): 2865-2871, 2020 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-32627461

RESUMO

This paper was aimed to establish a new method for evaluating the anaphylactoid reaction of 15 batches of Zushima Injection from different manufacturers in vitro. Basophilic leukemia cell line RBL-2 H3 cells were cultured in vitro and Compound 48/80 was selected as positive drug. Real-time cell analysis(RTCA) system was used to detect the changes of cell index(CI) value after drug intervention. The degranulation of RBL-2 H3 cells was verified with the toluidine blue staining technology by observing the changes of cell morphology and skeleton. Clustering method was used to analyze the CI values of 15 batches of Zushima Injection on RBL-2 H3 cells. The results showed Compound 48/80(20 µg·mL~(-1)) significantly changed the cell morphology and cytoskeleton, with obvious degranulation. After adding Compound 48/80, CI value decreased rapidly within 30 minutes, then decreased slowly, suggesting that RTCA system can be used for rapid and sensitive evaluation of RBL-2 H3 cell degranulation. The results of cluster analysis showed that Zushima Injection from different manufacturers had different effects on RBL-2 H3 cells. S1-S8 and Compound 48/80 groups were grouped into one cluster, which suggesting that the sample might have potential clinical anaphylaxis. S9-S15 and the normal control group were grouped into one cluster, suggesting there was no anaphylactoid reaction in the sample. In this study, a rapid in vitro anaphylaxis evaluation technique based on RTCA system and pattern recognition method was established, which can be used for rapid in vitro evaluation of anaphylaxis for traditional Chinese medicine injection.


Assuntos
Anafilaxia , Degranulação Celular , Humanos , Mastócitos , Medicina Tradicional Chinesa , p-Metoxi-N-metilfenetilamina
12.
Zhongguo Zhong Yao Za Zhi ; 45(9): 2115-2121, 2020 May.
Artigo em Chinês | MEDLINE | ID: mdl-32495560

RESUMO

A rapid analysis method based on ultraviolet-visual(UV-Vis) spectroscopy, near infrared(NIR) spectroscopy and multivariable data analysis was established for quality evaluation of Shengxuebao Mixture. The contents of eight active ingredients of Shengxuebao Mixture including albiflorin, paeoniflorin, 2, 3, 5, 4'-tetra-hydroxy-stilbene-2-O-ß-D-glucopyranoside, specnuezhenide,ecliptasaponin D, emodin, calycosin-7-glucoside and astragaloside Ⅳ were simultaneously detected by using this method. HPLC-UV-MS was used as a reference method for determining the contents of these ingredients. Partial least squares(PLS) analysis was implemented as a linear method for multivariate models calibrated between UV spectrum/NIR spectrum and contents of 8 ingredients. Finally, the performance of the model was evaluated by 24 batches of test samples. The results showed that both UV-Vis and NIR models gave a good calibration ability with an R~2 value above 0.9, and the prediction ability was also satisfactory, with an R~2 value higher than 0.83 for UV-Vis model and higher than 0.79 for NIR model. The overall results demonstrate that the established method is accurate, robust and fast, therefore, it can be used for rapid quality evaluation of Shengxuebao Mixture.


Assuntos
Medicamentos de Ervas Chinesas , Espectroscopia de Luz Próxima ao Infravermelho , Calibragem , Cromatografia Líquida de Alta Pressão , Análise dos Mínimos Quadrados , Espectrometria de Massas
13.
Am J Med Genet A ; 179(2): 150-158, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30614194

RESUMO

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ciclo Celular/genética , Síndrome de Cornélia de Lange/genética , Deficiência Intelectual/genética , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Proteoglicanas de Sulfatos de Condroitina/genética , Proteínas Cromossômicas não Histona/genética , Síndrome de Cornélia de Lange/epidemiologia , Síndrome de Cornélia de Lange/fisiopatologia , Face/fisiopatologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Recém-Nascido , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Masculino , Mutação , Fenótipo , Grupos Raciais/genética , Adulto Jovem
14.
Clin Genet ; 93(2): 378-381, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28661575

RESUMO

High throughput approaches are continuously progressing and have become a major part of clinical diagnostics. Still, the critical process of detailed phenotyping and gathering clinical information has not changed much in the last decades. Forms of next generation phenotyping (NGP) are needed to increase further the value of any kind of genetic approaches, including timely consideration of (molecular) cytogenetics during the diagnostic quest. As NGP we used in this study the facial dysmorphology novel analysis (FDNA) technology to automatically identify facial phenotypes associated with Emanuel (ES) and Pallister-Killian Syndrome (PKS) from 2D facial photos. The comparison between ES or PKS and normal individuals expressed a full separation between the cohorts. Our results show that NPG is able to help in the clinic, and could reduce the time patients spend in diagnostic odyssey. It also helps to differentiate ES or PKS from each other and other patients with small supernumerary marker chromosomes, especially in countries with no access to more sophisticated genetic approaches apart from banding cytogenetics. Inclusion of more facial pictures of patient with sSMC, like isochromosome-18p-, cat-eye-syndrome or others may contribute to higher detection rates in future.


Assuntos
Transtornos Cromossômicos/diagnóstico por imagem , Fissura Palatina/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Face/fisiopatologia , Cardiopatias Congênitas/diagnóstico por imagem , Deficiência Intelectual/diagnóstico por imagem , Hipotonia Muscular/diagnóstico por imagem , Aneuploidia , Transtornos Cromossômicos/fisiopatologia , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 22 , Fissura Palatina/fisiopatologia , Análise Citogenética/métodos , Anormalidades do Olho/fisiopatologia , Cardiopatias Congênitas/fisiopatologia , Humanos , Processamento de Imagem Assistida por Computador , Hibridização in Situ Fluorescente/métodos , Deficiência Intelectual/fisiopatologia , Cariotipagem , Mosaicismo , Hipotonia Muscular/fisiopatologia , Fenótipo , Fotografação
15.
Am J Med Genet A ; 176(5): 1128-1136, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29681090

RESUMO

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses.


Assuntos
Variação Biológica da População , Heterogeneidade Genética , Síndrome de Williams/diagnóstico , Síndrome de Williams/genética , Antropometria/métodos , Fácies , Humanos , Fenótipo , Grupos Populacionais , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Síndrome de Williams/epidemiologia
16.
Am J Med Genet A ; 173(1): 42-53, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27991738

RESUMO

Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n = 129 cases; n = 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally. © 2016 Wiley Periodicals, Inc.


Assuntos
Síndrome de Down/diagnóstico , Síndrome de Down/epidemiologia , Fácies , Estudos de Associação Genética , Fenótipo , Grupos Populacionais/estatística & dados numéricos , Vigilância da População , Adolescente , Adulto , Biomarcadores , Estudos de Casos e Controles , Criança , Pré-Escolar , Síndrome de Down/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Grupos Populacionais/genética , Sensibilidade e Especificidade , Adulto Jovem
17.
Am J Med Genet A ; 173(9): 2323-2334, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28748642

RESUMO

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.


Assuntos
Face/fisiopatologia , Genética Populacional , Síndrome de Noonan/genética , Povo Asiático , População Negra/genética , Criança , Feminino , Humanos , Masculino , Quinases de Proteína Quinase Ativadas por Mitógeno/genética , Síndrome de Noonan/fisiopatologia , Transdução de Sinais , População Branca/genética , Proteínas ras/genética
18.
Am J Med Genet A ; 173(4): 879-888, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28328118

RESUMO

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world.


Assuntos
Identificação Biométrica/métodos , Síndrome de DiGeorge/diagnóstico , Cardiopatias Congênitas/diagnóstico , Interpretação de Imagem Assistida por Computador/métodos , Deficiências da Aprendizagem/diagnóstico , Adolescente , Adulto , Povo Asiático , População Negra , Criança , Pré-Escolar , Cromossomos Humanos Par 22/química , Síndrome de DiGeorge/etnologia , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/patologia , Fácies , Feminino , Cardiopatias Congênitas/etnologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Hispânico ou Latino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Deficiências da Aprendizagem/etnologia , Deficiências da Aprendizagem/genética , Deficiências da Aprendizagem/fisiopatologia , Masculino , Fenótipo , População Branca
19.
Molecules ; 22(12)2017 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-29240680

RESUMO

Azo compounds have high exothermic characteristics and low thermal stability, which have caused many serious thermal accidents around the world. In general, different locations (e.g., equatorial or polar regions) have different UV intensities. If the azo compound exists in an inappropriately stored or transported condition, the decrease in thermal stability may cause a thermal hazard or ageing. 2,2'-Azobis(2,4-dimethyl)valeronitrile (ADVN) is investigated with respect to the thermal stability affected by UV exposure at 0, 6, 12, and 24 h. When ADVN is exposed to 24 h of UV (100 mW/m² and 254 nm), T0 is not only advanced, but the mass loss is also increased during the main decomposition stage. In addition, the apparent activation energy and integral procedural decomposition temperature (IPDT) of ADVN exposed to 24 h of UV is calculated by kinetic models. Therefore, the prevention mechanism, thermal characteristics, and kinetic parameters are established in our study. We should isolate UV contacting ADVN under any situations, avoiding ADVN being aged or leading to thermal runaway. This study provided significant information for a safer process under changing UV exposure times for ADVN. Furthermore, the research method may serve as an important benchmark for handling potentially hazardous chemicals, such as azo compounds described herein.


Assuntos
Compostos Azo/química , Nitrilas/química , Processos Fotoquímicos , Estabilidade de Medicamentos , Armazenamento de Medicamentos , Ambiente Controlado , Isomerismo , Cinética , Temperatura , Termodinâmica , Raios Ultravioleta
20.
Sensors (Basel) ; 16(6)2016 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-27258273

RESUMO

In this study, a new type of highly sensitive fiber-optic Fabry-Perot interferometer (FFPI) is proposed with a high sensitivity on a wide refractive index (RI) measurement range based on internal reflection mirrors of micro-cavity. The sensor head consists of a single-mode fiber (SMF) with an open micro-cavity. Since light reflections of gold thin films are not affected by the RI of different measuring mediums, the sensor is designed to improve the fringe visibility of optical interference through sputtering the gold films of various thicknesses on the inner surfaces of the micro-cavity, as a semi-transparent mirror (STM) and a total-reflection mirror (TRM). Experiments have been carried out to verify the feasibility of the sensor's design. It is shown that the fabricated sensor has strong interference visibility exceeding 15 dB over a wide measurement range of RI, and the sensor sensitivity is higher than 1160 nm/RIU, and RI resolution is better than 1.0 × 10(-6) RIU.

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