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1.
Clin Oral Investig ; 25(5): 2915-2923, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33009625

RESUMEN

OBJECTIVES: Autosomal-dominant hypocalcification amelogenesis imperfecta (ADHCAI) is a hereditary disease characterized by enamel defects. ADHCAI is mainly caused by nonsense mutations in a gene called family with sequence similarity 83 member H (FAM83H). To study the pathogenesis of ADHCAI, a Chinese ADHCAI family was investigated. MATERIALS AND METHODS: The ultrastructure of enamel was analyzed by micro-CT and scanning electron microscopy. Whole-exome sequencing (WES) was performed to identify the pathogenic gene. The function of the mutant FAM83H was studied by real-time PCR, western blotting, subcellular localization, and protein degradation pathway analyses. RESULTS: WES identified a known nonsense mutation (c.1915A > T) in exon 5 of the FAM83H gene, causing a truncated protein (p.Lys639*). However, the cases reported herein exhibited significant differences in the clinical phenotype compared with that the previously reported case. An abnormal enamel rod head structure was observed in affected teeth. In vitro functional studies showed altered protein localization and a decreased protein degradation rate for mutant FAM83H. CONCLUSIONS: We verified the FAM83H p.Lys639* protein as a gain-of-function variant causing ADHCAI. Abnormal enamel rod head structure was observed in teeth with mutant FAM83H proteins. We also investigated the molecular pathogenesis and presented data on the abnormal degradation of mutant FAM83H proteins. CLINICAL RELEVANCE: This study helped the family members to understand the disease progression and provided new insights into the pathogenesis of ADHCAI. Due to the large heterogeneity of ADHCAI, this study also provided a genetic basis for individuals who exhibit similar clinical phenotypes.


Asunto(s)
Amelogénesis Imperfecta , Amelogénesis Imperfecta/genética , China , Mutación con Ganancia de Función , Humanos , Mutación , Linaje , Proteínas
2.
Hum Mutat ; 38(1): 95-104, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27680507

RESUMEN

Dentin dysplasia type I (DDI) is an autosomal-dominant genetic disorder resulting from dentin defects. The molecular basis of DDI remains unclear. DDI exhibits unique characteristics with phenotypes featuring obliteration of pulp chambers and diminutive root, thus providing a useful model for understanding the genetics of tooth formation. Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. We showed that SSUH2 (p.P118Q) perturbed the structure and significantly reduced levels of mutant (MT) protein and mRNA compared with wild-type SSUH2. Furthermore, MT P141Q knock-in mice (+/- and -/-) had a unique partial obliteration of the pulp cavity and upregulation or downregulation of six major genes involved in odontogenesis: Dspp, Dmp1, Runx2, Pax9, Bmp2, and Dlx2. The phenotype of missing teeth was determined in zebrafish with morpholino gene knockdowns and rescued by injection of normal human mRNA. Taken together, our observations demonstrate that SSUH2 disrupts dental formation and that this novel gene, together with other odontogenesis genes, is involved in tooth development.


Asunto(s)
Displasia de la Dentina/diagnóstico , Displasia de la Dentina/genética , Genes Dominantes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Chaperonas Moleculares/genética , Mutación , Adolescente , Adulto , Animales , Niño , Preescolar , Mapeo Cromosómico , Análisis Mutacional de ADN , Femenino , Técnicas de Silenciamiento del Gen , Ligamiento Genético , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Ratones , Ratones Transgénicos , Repeticiones de Microsatélite , Chaperonas Moleculares/química , Chaperonas Moleculares/metabolismo , Linaje , Fenotipo , Radiografía , Adulto Joven , Pez Cebra
3.
J Med Genet ; 53(9): 624-33, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27247351

RESUMEN

BACKGROUND: Dentin dysplasia I (DDI) is a genetically heterogeneous autosomal-dominant disorder characterised by rootless teeth with abnormal pulpal morphology, the aetiology of which presents as genetically heterogeneous. METHODS AND RESULTS: Using a cohort of a large Chinese family with 10 patients with DDI, we mapped to a 9.63 Mb candidate region for DDI on chromosome 18q21.2-q21.33. We then identified a mutation IVS7+46C>G which resulted in a novel donor splice site in intron 7 of the VPS4B gene with co-segregation of all 10 affected individuals in this family. The aberrant transcripts encompassing a new insert of 45 bp in size were detected in gingival cells from affected individuals. Protein structure prediction showed that a 15-amino acid insertion altered the ATP-binding cassette of VPS4B. The mutation resulted in significantly reduced expression of mRNA and protein and altered subcellular localisation of VPS4B, indicating a loss of function of VPS4B. Using human gingival fibroblasts, the VPS4B gene was found to act as an upstream transducer linked to Wnt/ß-catenin signalling and regulating odontogenesis. Furthermore, knockdown of vps4b in zebrafish recapitulated the reduction of tooth size and absence of teeth similar to the tooth phenotype exhibited in DDI index cases, and the zebrafish mutant phenotype could be partially rescued by wild-type human VPS4B mRNA. We also observed that vps4b depletion in the zebrafish negatively regulates the expression of some major genes involved in odontogenesis. CONCLUSIONS: This study identifies VPS4B as a disease-causing gene for DDI, which is one of the important contributors to tooth formation, through the Wnt/ß-catenin signalling pathway.


Asunto(s)
Adenosina Trifosfatasas/genética , Displasia de la Dentina/genética , Complejos de Clasificación Endosomal Requeridos para el Transporte/genética , Mutación/genética , Empalme del ARN/genética , ATPasas Asociadas con Actividades Celulares Diversas , Animales , Pueblo Asiatico/genética , Secuencia de Bases , Femenino , Fibroblastos/metabolismo , Humanos , Masculino , Odontogénesis/genética , Linaje , Sitios de Empalme de ARN/genética , ARN Mensajero/genética , Vía de Señalización Wnt/genética , Pez Cebra/genética , beta Catenina/genética
4.
Sci Rep ; 14(1): 12511, 2024 05 31.
Artículo en Inglés | MEDLINE | ID: mdl-38822160

RESUMEN

While associations between periodontitis and an elevated risk of cancer have been suggested, the results of existing observational studies have been inconsistent, also leaving room for further investigation into the underlying mechanisms. This study was designed to delve into the possible causal link between periodontitis and 20 standard cancers while concurrently identifying potential mediators. We initiated a Mendelian randomization analysis that drew from either publicly accessible or personally obtained genome-wide association study (GWAS) datasets. The inverse variance weighting (IVW) method served as our primary tool for analysis. To ensure the strength and consistency of our results, we implemented additional strategies, including weighted median, weighted mode, MR-Egger regression, and MR pleiotropy residual sum and outlier (MR-PRESSO), bolstered by funnel plots. Our analysis unveiled an elevated risk of head and neck cancer concomitant with periodontitis (p = 0.041, OR 0.999, 95% CI 0.999-1.000), specifically a heightened risk of oropharyngeal cancer (p = 0.022, OR 0.999, 95% CI 0.999-1.000). As a result of probing into potential mediators, Fusobacterium nucleatum emerged as a likely intermediary in the promoting effect of periodontitis on oropharyngeal cancer (p = 0.021, OR 0.999, 95% CI 0.998-1.000). Inversely, basal cell carcinoma and endometrial cancer demonstrated an association with an increased incidence of periodontitis (basal cell carcinoma: p = 0.020, OR 0.987, 95% CI 0.976-0.998; endometrial cancer: p = 0.027, OR 0.984, 95% CI 0.970-0.998). However, periodontitis exerted no significant causal impact on the 19 other common cancers or the three subtypes of head and neck cancer. To conclude, our results support the theory that periodontitis contributes to an enhanced risk of head and neck cancer, particularly oropharyngeal cancer, with Fusobacterium nucleatum functioning as a potential intermediary.


Asunto(s)
Estudio de Asociación del Genoma Completo , Análisis de la Aleatorización Mendeliana , Neoplasias Orofaríngeas , Periodontitis , Humanos , Periodontitis/genética , Periodontitis/complicaciones , Neoplasias Orofaríngeas/genética , Neoplasias Orofaríngeas/epidemiología , Factores de Riesgo , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple
5.
Int J Mol Sci ; 14(1): 1080-92, 2013 Jan 07.
Artículo en Inglés | MEDLINE | ID: mdl-23296280

RESUMEN

Fluorescent silica nanoparticles (FSNPs) can provide high-intensity and photostable fluorescent signals as a probe for biomedical analysis. In this study, FSNPs hybridized with aggregation-induced emission (AIE) luminogens (namely FSNP-SD) were successfully fabricated by a surfactant-free sol-gel method. The FSNP-SD were spherical, monodisperse and uniform in size, with an average diameter of approximately 100 nm, and emitted strong fluorescence at the peak of 490 nm. The FSNP-SD selectively stained the cytoplasmic regions and were distributed in the cytoplasm. Moreover, they can stay inside cells, enabling the tacking of cells over a long period of time. The intracellular vesicles and multinucleated cells were increase gradually with the rise of FSNP-SD concentration. Both cell viability and survival only lost less than 20% when the cells were exposed to the high concentration of 100 µg/mL FSNP-SD. Additionally, the cell apoptosis and intracellular ROS assay indicated that FSNP-SD had no significant toxic effects at the maximum working concentration of 80 µg/mL. This study demonstrated that the FSNP-SD are promising biocompatible fluorescent probes for living cell imaging.


Asunto(s)
Colorantes Fluorescentes/química , Imagen Molecular/métodos , Nanopartículas/química , Dióxido de Silicio/química , Animales , Apoptosis/efectos de los fármacos , Materiales Biocompatibles/química , Materiales Biocompatibles/farmacocinética , Materiales Biocompatibles/farmacología , Forma de la Célula/efectos de los fármacos , Supervivencia Celular/efectos de los fármacos , Células HeLa , Humanos , Ratones , Microscopía Electrónica de Transmisión , Microscopía Fluorescente , Microscopía de Contraste de Fase , Células 3T3 NIH , Nanopartículas/ultraestructura , Propilaminas , Reproducibilidad de los Resultados , Silanos/química , Espectrometría de Fluorescencia
6.
Medicine (Baltimore) ; 100(12): e25242, 2021 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-33761718

RESUMEN

BACKGROUND: Piriformis syndrome (PS) is a condition in which the sciatic nerve is compressed when passing through the inferior mouth of the piriformis muscle, mainly caused by pain in one hip and leg. In severe cases, patients may experience severe buttock and lower limb pain, discomfort, difficulty walking, and claudication. It is estimated that the annual incidence of low back pain and sciatica is about 40 million cases, and the annual incidence of piriformis syndrome is about 2.4 million cases. The aim of this systematic review is to assess the effectiveness and safety of Little needle-scalpel therapy for Piriformis syndrome. METHODS: Two reviewers will electronically search the following databases: the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; China National Knowledge Infrastructure (CNKI); Chinese Biomedical Literature Database (CBM); Chinese Scientific Journal Database (VIP database); and Wan-Fang Database from the inception, without restriction of publication status and languages. Additional searching including researches in progress, the reference lists, and the citation lists of identified publications. Study selection, data extraction, and assessment of study quality will be performed independently by 2 reviewers. If it is appropriate for a meta-analysis, RevMan 5.4 statistical software will be used; otherwise, a descriptive analysis will be conducted. Data will be synthesized by either the fixed-effects or random-effects model according to a heterogeneity test. The results will be presented as risk ratio (RR) with 95% confidence intervals (CIs) for dichotomous data and weight mean difference (WMD) or standard mean difference (SMD) 95% CIs for continuous data. RESULTS: This study will provide a comprehensive review of the available evidence for the treatment of Little needle-scalpel with piriformis syndrome. CONCLUSIONS: The conclusions of our study will provide an evidence to judge whether Little needle-scalpel is an effective and safe intervention for patients with piriformis syndrome. ETHICS AND DISSEMINATION: This systematic review will be disseminated in a peer-reviewed journal or presented at relevant conferences. It is not necessary for a formal ethical approval because the data are not individualized. TRIAL REGISTRATION NUMBER: INPLASY2020110092.


Asunto(s)
Terapia por Acupuntura , Síndrome del Músculo Piriforme/terapia , Terapia por Acupuntura/instrumentación , Terapia por Acupuntura/métodos , Humanos , Metaanálisis como Asunto , Proyectos de Investigación , Revisiones Sistemáticas como Asunto , Resultado del Tratamiento
7.
Appl Biochem Biotechnol ; 192(2): 573-584, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32488610

RESUMEN

Papain (PA) immobilized onto magnetic nanocrystalline cellulose (PA@MNCC) was successfully fabricated and adopted as an efficient biocatalyst for the synthesis of N-(benzyloxycarbonyl)-alanyl-histidine (Z-Ala-His) dipeptide. Introducing deep eutectic solvents (DESs) as reaction media promoted the synthesis of the Z-Ala-His dipeptide. The effects of reaction conditions on the yield of papain catalytic Z-Ala-His were systematically investigated with the highest yield of 68.4%, which was higher than free papain (63.3%). Besides, this novel PA@MNCC composite can be easily recycled from the reaction system by magnetic forces. In a word, the PA@MNCC composite exhibited great potential for efficient biosynthesis of dipeptide in DESs.


Asunto(s)
Biocatálisis , Celulosa/química , Dipéptidos/biosíntesis , Enzimas Inmovilizadas/metabolismo , Nanoestructuras/química , Papaína/metabolismo , Solventes/química , Enzimas Inmovilizadas/química , Fenómenos Magnéticos , Papaína/química
8.
Oxid Med Cell Longev ; 2020: 8586314, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33354279

RESUMEN

There is a high incidence of acute and chronic skin defects caused by various reasons in clinically practice. The repair and functional reconstruction of skin defects have become a major clinical problem, which needs to be solved urgently. Previous studies have shown that fibroblast growth factor 10 (FGF10) plays a functional role in promoting the proliferation, migration, and differentiation of epithelial cells. However, little is known about the effect of FGF10 on the recovery process after skin damage. In this study, we found that the expression of endogenous FGF10 was increased during wound healing. We prepared FGF10-loaded poly(lactic-co-glycolic acid) (FGF10-PLGA) microspheres, and it could sustain release of FGF10 both in vitro and in vivo, accelerating wound healing. Further analysis revealed that compared with FGF10 alone, FGF10-PLGA microspheres significantly improved granulation formation, collagen synthesis, cell proliferation, and blood vessel density. In the meantime, we found that FGF10-PLGA microspheres inhibited the expression of endoplasmic reticulum (ER) stress markers. Notably, activating ER stress with tunicamycin (TM) reduced therapeutic effects of FGF10-PLGA microspheres in wound healing, whereas inhibition of ER stress with 4-phenyl butyric acid (4-PBA) improved the function of FGF10-PLGA microspheres. Taken together, this study indicates that FGF10-PLGA microspheres accelerate wound healing presumably through modulating ER stress.


Asunto(s)
Estrés del Retículo Endoplásmico/efectos de los fármacos , Factor 10 de Crecimiento de Fibroblastos/farmacología , Microesferas , Copolímero de Ácido Poliláctico-Ácido Poliglicólico/farmacología , Cicatrización de Heridas/efectos de los fármacos , Heridas y Lesiones , Administración Tópica , Animales , Masculino , Ratones , Ratones Endogámicos ICR , Heridas y Lesiones/tratamiento farmacológico , Heridas y Lesiones/metabolismo , Heridas y Lesiones/patología
9.
Int J Pharm ; 554: 93-104, 2019 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-30385376

RESUMEN

The combination of photothermal therapy and targeted chemotherapy can produce much greater cytotoxicity than chemotherapy. Herein, we developed multifunctional targeted polymeric nanoparticles (NPs) loaded with indocyanine green (ICG) and doxorubicin (DOX) for the targeted photoacoustic imaging and photothermal ablation of oral cancer cells. The chemokine SDF-1, a specific antibody, was conjugated to NPs by the carbodiimide method. The NPs were automatically targeted to tumour tissue in vitro and in vivo through CXCR4-SDF-1 interactions. The results of in vivo and in vitro photoacoustic imaging and photothermal therapy experiments showed that the multifunctional NPs had excellent photoacoustic imaging characteristics and photothermal therapy capabilities. The photothermal material heated rapidly after laser irradiation, and the resulting heat increased cell metabolism and membrane permeability, which increased cellular NP uptake. The encapsulated drug (DOX) was released immediately after the liquid core was transformed into a gas via laser effects, which killed tumour cells while producing strong photoacoustic signals in vitro and in vivo. Thus, we concluded that the chemokine SDF-1 can be applied for the targeted chemotherapy of metastatic lymph nodes of oral squamous cell carcinoma (OSCC) and is more effective for treating oral cancer when combined with photothermal therapy than when used alone.


Asunto(s)
Carcinoma de Células Escamosas/tratamiento farmacológico , Quimiocina CXCL12/administración & dosificación , Nanopartículas , Técnicas Fotoacústicas/métodos , Neoplasias de la Lengua/tratamiento farmacológico , Animales , Antibióticos Antineoplásicos/administración & dosificación , Antibióticos Antineoplásicos/farmacología , Carcinoma de Células Escamosas/diagnóstico por imagen , Línea Celular Tumoral , Doxorrubicina/administración & dosificación , Doxorrubicina/farmacología , Sistemas de Liberación de Medicamentos , Liberación de Fármacos , Femenino , Humanos , Verde de Indocianina/administración & dosificación , Verde de Indocianina/química , Metástasis Linfática/diagnóstico por imagen , Masculino , Fototerapia/métodos , Polímeros/química , Conejos , Neoplasias de la Lengua/diagnóstico por imagen
10.
Bioresour Technol ; 288: 121548, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31152956

RESUMEN

Deep eutectic solvent (DES), has been considered as a new type of green solvent applied in enzymatic systems. Here, we reported DES-buffer co-solvent as a novel reaction medium for high efficient synthesis of cefaclor by penicilin acylase immobilized on magnetic nanocrystalline cellulose. Effect of DES composition, DES-buffer ratio, temperature, pH, substrate ratio and substrate concentration was systematically investigated. In co-solvent consisting of choline chloride (ChCl):glycol-buffer (7:3, v/v), conversion of 7-ACCA was 94%, synthesis to hydrolysis ratio was 1.8, and yield of cefaclor reached 91%, higher than that in aqueous buffer with optimized yield of 84%, showing the great potential of DES as organic solvent alternative. To the best of our knowledge, this is the first example of biosynthesis of cefaclor in the DES-buffer co-solvent.


Asunto(s)
Cefaclor , Penicilina Amidasa , Biocatálisis , Celulosa , Solventes
11.
Nan Fang Yi Ke Da Xue Xue Bao ; 39(9): 1113-1117, 2019 Sep 30.
Artículo en Zh | MEDLINE | ID: mdl-31640964

RESUMEN

OBJECTIVE: To explore the histological structure of the deciduous teeth and the tooth germs of Tibetan miniature pigs for studies of dental tissue diseases and tooth regeneration. METHODS: The structure of the deciduous teeth of Tibetan miniature pigs was observed by X-ray. The ultrastructure of the enamel and dentin of deciduous teeth was characterized by scanning electron microscopy. The jaws and teeth were three-dimensionally reconstructed using Mimics software based on Micro-CT scanning of the deciduous teeth. Image J software was used to calculate the gray value and the mineralization density of the deciduous teeth. Hisotological structure of the tooth germ and the pulp tissue of Tibetan miniature pigs was observed using HE staining. RESULTS: The deciduous teeth of Tibetan miniature pigs were composed of enamel, dentin and medullary pulp tissue. The permanent tooth germ were formed during the deciduous dentition. The enamel and dentin ultrastructure of deciduous teeth were consistent with that of human deciduous teeth. The enamel and dentin mineralization densities were 2.47±0.09 g/cm3 and 1.72±0.07 g/cm3, respectively. The pathological structures of tooth germ and pulp tissue were similar to those of human teeth, and the pulp tissue of the deciduous teeth was in an undifferentiated state. CONCLUSIONS: The deciduous teeth of Tibetan miniature pig have similar anatomy, ultrastructure and histopathological structure to human teeth and can serve as a good animal model for studying human dental tissue diseases and the mechanisms of tooth regeneration.


Asunto(s)
Porcinos Enanos , Diente Primario/anatomía & histología , Animales , Esmalte Dental/ultraestructura , Pulpa Dental , Dentina/ultraestructura , Porcinos , Tibet , Germen Dentario
12.
Zhen Ci Yan Jiu ; 43(10): 666-9, 2018 Oct 25.
Artículo en Zh | MEDLINE | ID: mdl-30365264

RESUMEN

OBJECTIVE: To compare the effect difference between the thermosensitive moxibustion (TSM) and conventional mild moxibustion (CMM) at Yifeng (TE 17) plus acupuncture intervention in the treatment of facial paralysis patients. METHODS: The prospective cohort study design was used in the present study. A total of 183 patients were divided into a thermosensitive moxibustion (regional heat penetrating, heat extending, warmer in deep-tissue, etc.) group (n=132) and a CMM group (n=51) according to the patients' subjective feeling to moxibustion stimulation of TE 17. After propensity score matching (PSM, a statistical matching technique of observational data) processing by using SPSS 19. 0 software, outcomes of 33 cases in the TSM group and 33 cases in the CMM group were analyzed. In the 1st course (10 days) of treatment, TSM was applied to TE 17 till the thermosensitive feelings disappeared for patients in the TSM group, or CMM employed to TE 17 for 45 min for patients in the CMM group, followed by manual acupuncture stimulation of Cuanzhu (BL 2), Yangbai (GB 14), Sibai (ST 2), Quanliao (SI 18), Jiache (ST 6), etc. on the affected side (shallow needling, uniform reinforcing-reducing needle-manipulation) for 30 min, once daily. In the 2nd course (10 days), only manual acupuncture was performed, the same acupoints were stimulated with the same methods used in the 1st course, and in combination with bilateral Zusanli (ST 36) which was stimulated with reinforcing-needling technique. The interval between the 2 courses was 2 days. The modified Portmann scale (for movements of eyebrow raising, eye closing, cheek bulging, pouting, teeth showing and nostril widening, and symetry during resting state) was used to evaluate the severity of the facial palsy before and after the treatment. RESULTS: After the treatment, the Portmann scores were significantly higher than those of their own pre-treatment in each of the two groups (P < 0.01), being markedly higher in the TSM group than in the CMM group (P < 0.01), suggesting a better therapeutic effect of TSM. CONCLUSION: The thermosensitive moxibustion is considerably superior to the conventional mild moxibustion in improving the symptoms of facial paralysis patients.


Asunto(s)
Parálisis Facial , Moxibustión , Puntos de Acupuntura , Parálisis Facial/terapia , Humanos , Estudios Prospectivos , Resultado del Tratamiento
13.
Int J Oral Sci ; 10(3): 26, 2018 09 03.
Artículo en Inglés | MEDLINE | ID: mdl-30174330

RESUMEN

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders.


Asunto(s)
Amelogénesis Imperfecta/genética , Dentina/anomalías , Secuenciación del Exoma , Mutación Missense , Adulto , Células Cultivadas , China , Codón , Dentina/ultraestructura , Femenino , Humanos , Masculino , Repeticiones de Microsatélite , Microscopía Electrónica de Rastreo , Persona de Mediana Edad , Linaje , ARN/análisis , Transfección
14.
Artículo en Inglés | MEDLINE | ID: mdl-17571815

RESUMEN

In this paper, a hybrid method, which combines the traditional concept of guided waves and the finite element method (FEM), is proposed to analyze the spurious modes of aluminum nitride (AIN) film with electrodes. First, the guided wave modes in the plated area are obtained by 1-D FEM. Second, a mode-match method is used to satisfy the boundary conditions. The vibration of the film resonator is a superposition of all of the guided modes. With respect to an A1N film resonator, which is a thickness-stretch mode resonator, we have identified three families of spurious modes: extension, thickness-stretch, and thickness-shear. The spectrum of spurious modes is calculated and the influence of the spurious modes is discussed.


Asunto(s)
Acústica/instrumentación , Compuestos de Aluminio/química , Electroquímica/instrumentación , Membranas Artificiales , Modelos Teóricos , Transductores , Simulación por Computador , Diseño Asistido por Computadora , Electroquímica/métodos , Diseño de Equipo , Análisis de Falla de Equipo , Vibración
15.
Medicine (Baltimore) ; 96(13): e6462, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28353580

RESUMEN

BACKGROUND: Periarticular anesthesia (PAI) with liposomal bupivacaine (LB) and femoral nerve block (FNB) were 2 common type of pain management after total knee arthroplasty (TKA). There is no consensus about PAI with LB shows better clinical outcome than FNB. Thus, we performed a systematic review and meta-analysis to compare the efficacy and safety of PAI with LB and FNB for patients prepared for TKA. METHODS: Randomized controlled trials (RCTs) and non-RCTs from PubMed (1966-2017.2), EMBASE (1980-2017.2), and the Cochrane Central Register of Controlled Trials (CENTRAL, 2017.2), Web of Science (1966-2017.2), and Chinese Wanfang database (1980-2017.2) were searched. Continuous outcomes including visual analogue scale (VAS) at 24, 48, and 72 hours, total morphine consumption, length of hospital, and range of motion (ROM) were reported as the weighted mean difference with 95% and confidence interval (CI) and discontinuous outcomes (the occurrence of postoperative nausea and vomiting [PONV]) were presented as relative risk with 95% CI. Random-effects model was adopted to analyze the relevant data. RESULTS: According to the inclusion and exclusion criteria, 8 studies with 2407 patients were eligible and finally included in this meta-analysis (LB = 1114, FNB = 1293). There was no significant difference between VAS at 24, 4, and 72 hours, ROM, and the occurrence of PONV between PAI with LB group versus FNB group (P > 0.05). Compared with the FNB group, PAI with LB was associated with a significant decrease in length of hospital stay by 0.43 day (MD = -0.43; 95% CI -0.60 to -0.27; P = 0.001) and the total dose of total morphine consumption by (MD = -29.32; 95% CI -57.55 to -1.09; P = 0.042). CONCLUSIONS: The review of trials found that PAI with LB provided a significant beneficial effect over FNB in improving the pain or decreased the total morphine consumption in patients who underwent TKA. However, PAI with LB associated with less LOS than FNB. More high quality RCTs are still needed to identify the effects and optimal dose of LB for pain management after TKA.


Asunto(s)
Anestésicos Locales/administración & dosificación , Artroplastia de Reemplazo de Rodilla , Bupivacaína/administración & dosificación , Bloqueo Nervioso , Dolor Postoperatorio/tratamiento farmacológico , Nervio Femoral , Humanos , Tiempo de Internación , Liposomas , Morfina/administración & dosificación , Narcóticos/administración & dosificación , Rango del Movimiento Articular
18.
Appl Biochem Biotechnol ; 169(7): 2126-37, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23400873

RESUMEN

Effects of 4-nitrophenol (4NP) on the overall performance of membrane bioreactors (MBRs) were investigated in two bench-scale submerged MBRs. Positive impacts of 4NP on activated sludge production and membrane fouling were demonstrated over 45 days of stable operational period. After addition of 4-nitrophenol, the sludge production could be reduced effectively, but only a slight reduction in chemical oxygen demand removal was obtained. The effluent NH4(+)-N concentrations were almost the same in two MBRs. The transmembrane pressures (TMPs) and resistance R increased with increasing mixed liquor suspended solid concentration at each MBR. The average daily TMP increase rates in the control MBR reactor remained at about 0.23 kPa day(-1) and dropped to about 0.12 kPa day(-1) in the 4NP-MBR. Compared with the control MBR, a wider dispersion and lower peak of floc size, a lower zeta potential, and a lower extracellular polymeric substance concentration were observed in the 4NP-MBR.


Asunto(s)
Reactores Biológicos/microbiología , Membranas Artificiales , Nitrofenoles/farmacología , Aguas del Alcantarillado/microbiología
19.
Zhen Ci Yan Jiu ; 38(6): 493-6, 501, 2013 Dec.
Artículo en Zh | MEDLINE | ID: mdl-24579365

RESUMEN

OBJECTIVE: To compare the outcome difference between the heat-sensitive and non-sensitive moxibustion stimulation of Yifeng (TE 17) in the treatment of peripheral facial palsy. METHODS: A total of 43 patients with peripheral facial paralysis were divided into heat-sensitive moxibustion (n = 21) and non-sensitive moxibustion (n = 22) groups in accordance with their reactions to moxa-heat stimulation. Mild moxibustion was applied to bilateral Yifeng (TE 17) for 45 minutes, followed by mild acupuncture stimulation of Cuanzhu (BL 2), Yangbai (GB 14), Sibai (ST 2), Hegu (LI 4), etc. Moxibustion treatment was conducted once daily for 10 days, and acupuncture treatment given once daily for 20 days (with 2 days interval between every 10 days). Following moxibustion, if the patient felt regional heat penetrating to the deep tissue, extending peripherally, or propagating to other part of the body, or felt mild warm in the stimulated region but warmer in the slightly distant part, or felt mild warm on the skin surface but warmer in the deep tissue, it was considered to be heat-sensitivity. Patients with occurrence of heat-sensitivity being equal to and more than 3 times during the 10 sessions of treatment were assigned to heat-sensitive group, and those with occurrence of heat-sensitivity being equal to or less than 2 times assigned to non-sensitive moxibustion group. According to Portmann Scale (including movement and resting posture) for the voluntary movement state of the face, forehead, winkles eye closure, open mouth smile, snarl, and pucker; points 0, 1, 2 and 3 indicate no muscular movement, marked asynersis, asynersis and normal, respectively. In the light of resting posture of the eye, the nasolabial fold and mouth corner, 0, 1, and 2 points indicate severe, mild dissymmetry and normal, separately. In evaluation of the therapeutic effect, twenty points (at most) indicate cured, 17-19 points marked improvement; 14- 16 points improved, and < or = 13 points failure. RESULTS: Compared with pre-treatment, Portmann scores of both heat-sensitive moxibustion and non-sensitive moxibustion groups were significantly increased after the treatment (P < 0.001), and the score of the heat-sensitive moxibustion group was markedly higher than that of the non-sensitive moxibustion group (P < 0.05). Of the 21 and 22 facial palsy patients in the heat-sensitive moxibustion and non-sensitive moxibustion groups, 8 and 5 cases were cured, 10 and 7 were markedly effective, 3 and 10 were improved, with the markedly effective rates being 85.71% and 54.55%, respectively. The therapeutic effect of the heat-sensitive moxibustion group was statistically better (P < 0.05). CONCLUSION: Heat-sensitive moxibustion is significantly superior to non-sensitive moxibustion in improving symptoms of peripheral facial palsy patients, suggesting a necessity for paying attention to patients' reactions during moxibustion treatment.


Asunto(s)
Parálisis Facial/terapia , Moxibustión , Adolescente , Adulto , Anciano , Parálisis Facial/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sensación , Resultado del Tratamiento , Adulto Joven
20.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 19(6): 441-4, 2003 Nov.
Artículo en Zh | MEDLINE | ID: mdl-15004901

RESUMEN

OBJECTIVE: The purpose of this study was to evaluate a new palatoplasty with persistent elastic distraction osteogenesis. METHODS: Twenty mongrel dog aged in 6 month were divided into two groups: the control (n = 10) and the experimental group (n = 10). The cleft palate model was made surgically in experimental dogs. The hard palate clefts were repaired with persistent elastic distraction osteogenesis. Then the animals were observed for an additional 12 weeks before sacrifice. Direct measurements was taken on dry skulls of the dogs and the data were analyzed statistically. RESULTS: For all experimental dogs, the clefts were closed after gradual distraction. No relapse and airway blocking occurred in observational period. There were no significant differences in the variables of facial length, height and width between the two groups (P > 0.05). The length of horizontal portion of hard palate in experimental group was significantly longer than that in the control (P < 0.01). CONCLUSION: There was no complication and disturbance on maxillofacial structure in repairing cleft palate with persistent elastic distraction osteogenesis. It is an effective and safe technique for repairing cleft palate in animal model.


Asunto(s)
Fisura del Paladar/cirugía , Cara/anatomía & histología , Osteogénesis por Distracción/métodos , Hueso Paladar/cirugía , Animales , Perros
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