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1.
Chemistry ; 29(59): e202302132, 2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37526053

RESUMO

Advanced Organic Chemical Materials Co-constructed Mechanically bonded amphiphiles (MBAs), also known as mechanically interlocked molecules (MIMs), have emerged as an important kind of functional building block for the construction of artificial molecular machines and soft materials. Herein, a novel MBA, i. e., bistable [2]rotaxane H2 was designed and synthesized. In the solution state, H2 demonstrated pH and metal ion-responsive emissions due to the presence of a distance-dependent photoinduced electron transfer (PET) process and the fluorescence resonance energy transfer (FRET) process, respectively. Importantly, the amphiphilic feature of H2 has endowed it with unique self-assembly capability, and nanospheres were obtained in a mixed H2 O/CH3 CN solvent. Moreover, the morphology of H2 aggregates can be tuned from nanospheres to vesicles due to the pH-controlled shuttling motion-induced alternation of H2 amphiphilicity. Interestingly, larger spheres with novel pearl-chain-like structures from H2 were observed after adding stoichiometric Zn2+ . In particular, H2 shows pH-responsive emissions in its aggregation state, allowing the visualization of the shuttling movement by just naked eyes. It is assumed that the well-designed [2]rotaxane, and particularly the proposed concept of MBA shown here, will further enrich the families of MIMs, offering prospects for synthesizing more MIMs with novel assembly capabilities and bottom-up building dynamic smart materials with unprecedented functions.

2.
J Nanosci Nanotechnol ; 19(9): 5554-5561, 2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-30961709

RESUMO

In this study, a two-dimensional heterojunction consisting of bismuth trioxide nanoplates and layered reduced graphene oxide was synthesized using a facile In Situ growth route. A series of characterization tests indicated that the reduction of graphene oxide played a key role as an electron collector for enhancing photoinduced charge carrier separation efficiency. Thus, the as-prepared reduced graphene oxide/bismuth trioxide composite exhibited enhanced photocatalytic water oxidation, which was higher than that of pristine bismuth trioxide under simulated solar light irradiation. Furthermore, the photoelectrochemical properties of the prepared hybrid system were investigated to understand the transfer of photoinduced electrons and holes between layered reduced graphene oxide and bismuth trioxide nanoplates. Thus, this strategy provided an efficient approach for the fabrication of graphene composites containing hierarchical ternary oxides for photocatalysis.

3.
Chin J Traumatol ; 22(1): 21-23, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30833162

RESUMO

Trauma is one of the leading causes of death worldwide. It is an urgent task to strengthen the trauma care and prevent the complications. In 2018, Chinese Journal of Traumatology reported a series of trauma-related articles of which the contents include pre-hospital care, in-hospital care and complication prevention, et al, aiming to improve the treatment levels, decrease the trauma incidence, and reduce the trauma mortality and disability.


Assuntos
Publicações Periódicas como Assunto , Sociedades Médicas/organização & administração , Traumatologia/organização & administração , China , Humanos , Fatores de Tempo , Ferimentos e Lesões/prevenção & controle , Ferimentos e Lesões/terapia
4.
J Neuroinflammation ; 15(1): 186, 2018 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-29925377

RESUMO

BACKGROUND: Neonatal hypoxic-ischemic brain damage, characterized by tissue loss and neurologic dysfunction, is a leading cause of mortality and a devastating disease of the central nervous system. We have previously shown that vitexin has been attributed various medicinal properties and has been demonstrated to have neuroprotective roles in neonatal brain injury models. In the present study, we continued to reinforce and validate the basic understanding of vitexin (45 mg/kg) as a potential treatment for epilepsy and explored its possible underlying mechanisms. METHODS: P7 Sprague-Dawley (SD) rats that underwent right common carotid artery ligation and rat brain microvascular endothelial cells (RBMECs) were used for the assessment of Na+-K+-Cl- co-transporter1 (NKCC1) expression, BBB permeability, cytokine expression, and neutrophil infiltration by western blot, q-PCR, flow cytometry (FCM), and immunofluorescence respectively. Furthermore, brain electrical activity in freely moving rats was recorded by electroencephalography (EEG). RESULTS: Our data showed that NKCC1 expression was attenuated in vitexin-treated rats compared to the expression in the HI group in vivo. Oxygen glucose deprivation/reoxygenation (OGD) was performed on RBMECs to explore the role of NKCC1 and F-actin in cytoskeleton formation with confocal microscopy, N-(ethoxycarbonylmethyl)-6-methoxyquinolinium bromide, and FCM. Concomitantly, treatment with vitexin effectively alleviated OGD-induced NKCC1 expression, which downregulated F-actin expression in RBMECs. In addition, vitexin significantly ameliorated BBB leakage and rescued the expression of tight junction-related protein ZO-1. Furthermore, inflammatory cytokine and neutrophil infiltration were concurrently and progressively downregulated with decreasing BBB permeability in rats. Vitexin also significantly suppressed brain electrical activity in neonatal rats. CONCLUSIONS: Taken together, these results confirmed that vitexin effectively alleviates epilepsy susceptibility through inhibition of inflammation along with improved BBB integrity. Our study provides a strong rationale for the further development of vitexin as a promising therapeutic candidate treatment for epilepsy in the immature brain.


Assuntos
Anticonvulsivantes/uso terapêutico , Apigenina/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/etiologia , Hipóxia-Isquemia Encefálica/complicações , Membro 2 da Família 12 de Carreador de Soluto/metabolismo , Animais , Animais Recém-Nascidos , Hipóxia Celular/efeitos dos fármacos , Células Cultivadas , Cloretos/metabolismo , Citocinas/genética , Citocinas/metabolismo , Modelos Animais de Doenças , Células Endoteliais/efeitos dos fármacos , Regulação da Expressão Gênica/efeitos dos fármacos , Glucose/deficiência , Fator Estimulador de Colônias de Granulócitos/genética , Fator Estimulador de Colônias de Granulócitos/metabolismo , Interleucina-3/genética , Interleucina-3/metabolismo , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Ratos , Ratos Sprague-Dawley , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Membro 2 da Família 12 de Carreador de Soluto/genética , Proteína da Zônula de Oclusão-1/metabolismo
5.
Brain Behav Immun ; 64: 354-366, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28342781

RESUMO

Transient receptor potential vanilloid type 1 channel (TRPV1), as a ligand-gated non-selective cation channel, has recently been demonstrated to have wide expression in the neuro-immune axis, where its multiple functions occur through regulation of both neuronal and non-neuronal activities. Growing evidence has suggested that TRPV1 is functionally expressed in glial cells, especially in the microglia and astrocytes. Glial cells perform immunological functions in response to pathophysiological challenges through pro-inflammatory or anti-inflammatory cytokines and chemokines in which TRPV1 is involved. Sustaining inflammation might mediate a positive feedback loop of neuroinflammation and exacerbate neurological disorders. Accumulating evidence has suggested that TRPV1 is closely related to immune responses and might be recognized as a molecular switch in the neuroinflammation of a majority of seizures and neurodegenerative diseases. In this review, we evidenced that inflammation modulates the expression and activity of TRPV1 in the central nervous system (CNS) and TRPV1 exerts reciprocal actions over neuroinflammatory processes. Together, the literature supports the hypothesis that TRPV1 may represent potential therapeutic targets in the neuro-immune axis.


Assuntos
Anti-Inflamatórios/uso terapêutico , Encefalite/tratamento farmacológico , Encefalite/imunologia , Encefalite/metabolismo , Canais de Cátion TRPV/metabolismo , Animais , Humanos , Mediadores da Inflamação/imunologia , Mediadores da Inflamação/metabolismo , Camundongos , Neuroglia/imunologia , Neuroglia/metabolismo , Neurônios/imunologia , Neurônios/metabolismo , Transdução de Sinais , Canais de Cátion TRPV/imunologia
6.
Altern Ther Health Med ; 23(7): 46-53, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29112942

RESUMO

Context • Primary dysmenorrhea (PD) is one of the most common complaints among young women. Acupuncture has been widely applied as a therapeutic modality in China and abroad for PD; however, the evidence for its benefits is still not convincing. Objective • The study intended to conduct a systematic review of randomized, controlled trials (RCTs) to evaluate the evidence regarding the use of acupuncture in treating PD. Design • The research team retrieved reports for RCTs published in 7 databases from their inception to March 2016, with no language restrictions: PubMed, Medline, Embase, the Cochrane Central Register of Controlled Trials, the Chinese National Knowledge Infrastructure database, the Chinese Biomedical database, and the Wanfang database. Setting • The study was conducted at the Beijing University of Traditional Chinese Medicine (Beijing, China). Participants • Participants in the reviewed studies were women aged 14 to 49 y who had received a diagnosis of PD in the absence of any visible pelvic pathology. Interventions • The types of acupuncture included traditional acupuncture, electroacupuncture, ear acupuncture, scalp acupuncture, superficial acupuncture, electrosuperficial acupuncture, wrist-ankle acupuncture, and abdominal acupuncture. Outcome Measures • The primary outcome was pain relief measured using a visual analogue scale (VAS), a verbal rating scale (VRS), or a numerical rating scale (NRS). The secondary outcomes included (1) overall improvement as measured by the short-form McGill pain questionnaire or symptom scale based on the Clinical Study Guideline for New Developed Chinese Medicine, (2) menstrual distress as measured by the Menstrual Distress Questionnaire, (3) quality of life as measured by a validated scale (eg, the short-form 36), and (4) adverse effects. Results • Twenty-three trials enrolling a total of 2770 patients were included in the review. Overall, most trials were of poor quality. Among the trials, only 6 were evaluated as having a low risk of bias, 3 of which indicated that acupuncture was statistically more effective than sham acupuncture-mean difference (MD), -3.51; 95% confidence interval (CI), -5.27 to -1.75; P < .0001; I², 0%-or no treatment-MD, -21.95; 95% CI, -25.45 to -18.45; P < .00001; I², 0%-on the VAS (0 to 100 mm). Acupuncture also showed superiority to the control arms on the VRS, the NRS, and the McGill pain questionnaire, but those findings had been influenced by methodological flaws. Conclusions • The available evidence suggests that acupuncture may be effective for PD and justifies future high-quality studies.

7.
Angew Chem Int Ed Engl ; 56(47): 14982-14986, 2017 11 20.
Artigo em Inglês | MEDLINE | ID: mdl-28967999

RESUMO

Materials with hysteretic multi-step spin-crossover (SCO) have potential application in high-order data storage. Here, an unprecedented hysteretic four-step SCO behavior with the sequence of LS↔HS0.25 LS0.75 ↔HS0.5 LS0.5 ↔ HS0.75 LS0.25 ↔HS is found in a three-dimensional (3D) Hofmann-type metal-organic framework (MOF), which is evidenced by magnetic, differential scanning calorimetry, and crystal data. Further experiments involving guest exchange leads to the first reversible modulation of four-, two-, and one-stepped SCO behaviors, which provides a new strategy for developing multi-step SCO materials.

8.
Inorg Chem ; 55(10): 4891-6, 2016 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-27149424

RESUMO

The first spin-crossover cluster helicate [{Fe(II)(µ-bpt)3}2Fe(II)3(µ3-O)][Fe(II)2(µ-Cl)(µ-bpt)(NCS)4(H2O)]·2H2O·C2H5OH [Hbpt = 3,5-bis(pyridin-2-yl)-1,2,4-triazole] was reported, in which one spin-crossover unit and one low-spin triple-stranded [Fe(II)(bpt)3](-) unit wrapped a rare planar [Fe(II)3(µ3-O)](4+) core to form a bis(triple-helical) cation with trigonal-bipyramidal topology. The origin of different magnetic behaviors of two [Fe(II)(bpt)3](-) units could be ascribed to their different intermolecular interactions.

9.
Chin J Traumatol ; 19(3): 185-6, 2016 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-27321304

RESUMO

The First International Editorial Board Meeting of Chinese Journal of Traumatology was held in Guiyang, China on August 16, 2015. Totally 32 domestic and 20 foreign professors from America, Europe, Asia and Oceania attended the panel discussion about the future of this journal. Some experience from globally excellent journals was proposed.


Assuntos
Publicações Periódicas como Assunto , Traumatologia
11.
Eur J Med Res ; 28(1): 96, 2023 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-36829258

RESUMO

Bleeding is a major adverse event during clopidogrel treatment in patients with acute coronary syndrome (ACS). However, the potential mechanism affecting bleeding among individuals is unclear. Herein, we investigated the involvement of CYP2C19*2 and CYP2C19*3, as well as 10 miRNA polymorphisms, in bleeding in Chinese patients with ACS during the first year of clopidogrel treatment. The miR-6076 rs1463411 G polymorphism was significantly associated with the risk of bleeding (P < 0.001), and the rs1463411 GT + GG genotype significantly increased the risk of bleeding (adjusted odds ratio, 6.09; 95% confidence interval, 1.09-34.0; P < 0.001). Dual luciferase assay showed that miR-6076 significantly decreased the mRNA expression of P2RY12 (P < 0.05). P2RY12 mRNA and protein levels were significantly lower in cells transfected with miR-6076-G than in cells transfected with miR-6076-T (P < 0.05). The findings indicate that miR-6076 targets P2RY12 mRNA and that miR-6076 rs1463411 T/G polymorphisms differentially regulate P2RY12 mRNA and protein levels in cells. rs1463411 G polymorphism may increase the risk of bleeding during clopidogrel treatment in patients with ACS.


Assuntos
Síndrome Coronariana Aguda , MicroRNAs , Intervenção Coronária Percutânea , Humanos , Clopidogrel , Inibidores da Agregação Plaquetária/efeitos adversos , Citocromo P-450 CYP2C19/genética , Citocromo P-450 CYP2C19/metabolismo , Ticlopidina , Síndrome Coronariana Aguda/genética , Hemorragia/etiologia , Genótipo , Intervenção Coronária Percutânea/efeitos adversos , Resultado do Tratamento
12.
Exp Biol Med (Maywood) ; 248(14): 1267-1277, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37728157

RESUMO

Defects in migration and invasion caused by dysregulation of trophoblast epithelial-mesenchymal transformation (EMT) are one of the key factors in the pathogenesis of preeclampsia (PE). RNA-binding motif protein 25 (RBM25) is an RNA-binding protein involved in a variety of cellular processes, including cell proliferation, apoptosis, cell migration and invasion, and EMT. However, the expression and function of RBM25 in placental of PE remain unclear. In this study, we reveal that the expression of RBM25 is significantly elevated in PE placental tissue. RBM25 depletion and over-expression in trophoblast cells increase and decrease, respectively, cell migration and invasion by regulating EMT marker E-cadherin and Vimentin expression. Mechanistically, Grhl2 is involved in RBM25-regulated trophoblast cell migration, invasion, and EMT through RBM25-facilitated mRNA stabilization. Furthermore, the upregulation of Grhl2 enhances the expression of RBM25 through transcription and forms a positive feedback regulation in the progression of PE. These findings suggest that upregulation of RBM25 induces dysregulation of trophoblast EMT by enhancing positive feedback regulation of Grhl2 and RBM25, leading to defects in cell migration and invasion. Targeting this newly identified regulatory axis may provide benefits in the prevention and treatment of PE.


Assuntos
MicroRNAs , Pré-Eclâmpsia , Humanos , Feminino , Gravidez , Trofoblastos/metabolismo , Transição Epitelial-Mesenquimal/genética , Placenta/metabolismo , Pré-Eclâmpsia/patologia , Retroalimentação , Proliferação de Células/genética , Movimento Celular/genética , MicroRNAs/genética
13.
Front Immunol ; 14: 1259521, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37954611

RESUMO

Tuft cells are a type of rare epithelial cells that have been recently found to utilize taste signal transduction pathways to detect and respond to various noxious stimuli and pathogens, including allergens, bacteria, protists and parasitic helminths. It is, however, not fully understood how many different types of pathogens they can sense or what exact molecular mechanisms they employ to initiate targeted responses. In this study, we found that an anaerobic pathobiont microbe, Ruminococcus gnavus (R. gnavus), can induce tuft cell proliferation in the proximal colon whereas the microbe's lysate can stimulate these proximal colonic tuft cells to release interleukin-25 (IL-25). Nullification of the Gng13 and Trpm5 genes that encode the G protein subunit Gγ13 and transient receptor potential ion channel Trpm5, respectively, or application of the Tas2r inhibitor allyl isothiocyanate (AITC), G protein Gßγ subunit inhibitor Gallein or the phospholipase Cß2 (PLCß2) inhibitor U73122 reduces R. gnavus-elicited tuft cell proliferation or IL-25 release or both. Furthermore, Gng13 conditional knockout or Trpm5 knockout diminishes the expression of gasdermins C2, C3 and C4, and concomitantly increases the activated forms of caspases 3, 8 and 9 as well as the number of TUNEL-positive apoptotic cells in the proximal colon. Together, our data suggest that taste signal transduction pathways are not only involved in the detection of R. gnavus infection, but also contribute to helping maintain gasdermin expression and prevent apoptotic cell death in the proximal colon, and these findings provide another strategy to combat R. gnavus infection and sheds light on new roles of taste signaling proteins along with gasdermins in protecting the integrity of the proximal colonic epithelium.


Assuntos
Paladar , Canais de Potencial de Receptor Transitório , Ruminococcus , Transdução de Sinais , Colo
15.
Insects ; 13(8)2022 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-36005346

RESUMO

The oriental fruit fly, Bactrocera dorsalis, is one of the most destructive fruit insect pests. ß-cypermethrin has been widely used in the orchard to control this major insect. Based on the resistance monitoring in 2011, B. dorsalis developed significant resistance against ß-cypermethrin in fields. This indicated that the B. dorsalis has been exposed to sublethal concentrations of ß-cypermethrin in the field for a long time. Thus, it is urgent to understand the sublethal effects of ß-cypermethrin on this fly to guide the rational use of an insecticide. According to the olfactory preference assays and electroantennogram (EAG) recording, the B. dorsalis after ß-cypermethrin exposure (LD30 = 10 ng/fly) severely decreased the ability to perceive the tested odorants. Moreover, we then performed quantitative real-time PCR and found the chemosensory genes including odorant receptor co-receptor (BdorORco) and ionotropic receptor co-receptors (BdorIRcos) were obviously suppressed. Our results demonstrated that the sublethal dose of ß-cypermethrin impairs the olfaction of the pest insects by suppressing the expression of chemosensory genes (BdorORco and BdorIRcos), which expanded our knowledge of the sublethal effects of the pesticide on insects.

16.
Disaster Med Public Health Prep ; 15(6): e8-e11, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-32782040

RESUMO

BACKGROUND: Coronavirus disease 2019 (COVID-19) began to spread across Wuhan, China, by the end of 2019, and patients were unable to be hospitalized because medical resources were limited. METHODS: A questionnaire survey was conducted among 108 participants with mild COVID-19 who have isolated at home under the guidance of doctors. The results of the questionnaire and outpatient data were integrated to evaluate participants' compliance with various epidemic prevention measures. RESULTS: During isolation, most participants were able to follow epidemic prevention measures under the guidance of doctors. After 14 d from the start of isolation, 45.37% of the participants recovered. Approximately half of the participants were relieved of symptoms, and most of them were transferred to mobile cabin hospitals to continue isolation. Three participants with worsening symptoms were transferred to the designated hospitals. There were no deaths of the participants, but there were 7 family members that were infected. CONCLUSIONS: During a period of home isolation under the guidance of a doctor, individuals can comply with epidemic prevention measures and symptoms can be improved. Scientific home isolation may be an effective way to relieve the strain of medical and social resources during the epidemic of COVID-19.


Assuntos
COVID-19 , Epidemias , China , Humanos , Unidades Móveis de Saúde , Isolamento de Pacientes , SARS-CoV-2
17.
Insects ; 11(2)2020 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-31973072

RESUMO

The pea aphid is an important pest of vegetables and causes serious losses worldwide. RNA interference (RNAi) is an effective pest control tool, and three sub-pathways have been described: The miRNA pathway, siRNA pathway, and piRNA pathway. A large number of genes in miRNA pathway and piRNA pathway are found to be expanded. To study the roles of these genes, the expression of 25 core RNAi genes was screened in spatiotemporal samples, artificially synthesized dsRNA and miRNA treated samples. The 25 genes were all expressed during different development stages and in different tissues. In dsRNA-treated samples and miRNA-treated samples, the expressions of genes in these three pathways were induced, especially the expanded genes. This suggests a complex network of RNAi core genes in the three sub-pathways. Treatment of miRNA seems to induce gene expression in a dosage-dependent manner. These results increase our knowledge of the siRNA pathway and related factors from RNAi pathway in aphids and promote the use of RNAi for the control of aphid pests.

18.
Dalton Trans ; 49(40): 14140-14147, 2020 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-33021292

RESUMO

By employing mixed ligands, a new trinuclear dysprosium complex [Dy3(dbm)3(L)4](ClO4)2·CH2Cl2·2MeOH (1, Hdbm = dibenzoylmethane; HL = 2-methoxy-6-((quinolin-8-ylimino)methyl)phenol) was synthesized by a one-pot reaction. According to structural characterization, all the 8-coordinated Dy(iii) sites are well arranged with slightly distorted square antiprism (D4d) geometries. Magnetic measurements reveal that 1 exhibits typical single-molecule magnetic behavior at zero magnetic field and shows rarely open hysteresis loops up to 3 K among open-ring {Dy3} SMMs, where the relaxation time remains very stable under the protection from the Dy-Dy magnetic coupling in the open-ring arrangement of Ising spins.

19.
Sci Total Environ ; 725: 138524, 2020 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-32302854

RESUMO

Microalgae based wastewater treatment has attracted increasing attention for its many advantages in recent years. In this study, a novel microalgae biofilm membrane photobioreactor (BF-MPBR) was developed for the efficient microalgae cultivation and the removal of nutrient and sulfonamides (SAs) from marine aquaculture wastewater. Two BF-MPBRs with hydraulic retention time (HRT) of 1 day and 2 days respectively were continuously operated for 70 days without harvesting microalgae. Concentrated and attached culture of marine Chlorella vulgaris was achieved in these continuous flow BF-MPBRs due to the suspended solid carriers and microfiltration membrane module in the reactors. The algal biomass productivity achieved in BF-MPBRs with HRT of 1 day and 2 days were 14.02 and 22.03 mg L-1 day-1, respectively. In addition, at the end of the cultivation, 60.4% and 45.0% of microalgae were fixed into algal biofilm in BF-MPBRs with 1 day and 2 day HRT, respectively. Compared with batch cultivation, more efficient nutrient and SAs removal performance was achieved in BF-MPBRs, although the HRT of the BF-MPBRs used in this study was only 1 or 2 days. During the stable operation stage of the BF-MPBRs, the reduction in dissolved inorganic nitrogen (DIN), dissolved inorganic phosphorus (DIP), sulfadiazine (SDZ), sulfamethazine (SMZ) and sulfamethoxazole (SMX) were found in the range of 91.0-99.6%, 92.1-98.4%, 61.0-79.2%, 50.0-76.7% and 60.8-82.1%, respectively. Therefore, nutrient and SAs were simultaneously and efficiently removed from marine aquaculture wastewater by microalgae cultivation in BF-MPBR.


Assuntos
Chlorella vulgaris , Microalgas , Aquicultura , Biofilmes , Biomassa , Nitrogênio/análise , Nutrientes , Fósforo , Fotobiorreatores , Sulfonamidas , Águas Residuárias
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 26(4): 369-73, 2009 Aug.
Artigo em Zh | MEDLINE | ID: mdl-20017297

RESUMO

OBJECTIVE: To establish a method of multiplex ligation-dependent probe amplification (MLPA) for clinical screening of Williams syndrome (WS) and for routine use in WS diagnosis. METHODS: Probes for MLPA were designed according to the frequent deletion regions, and used to screen the two patients suspected with Williams syndrome, and the density of the bands were analyzed with software. Linkage analysis using polymorphic markers was performed to confirm the positive result of MLPA. RESULTS: The MLPA data indicated that the two children had possible microdeletions in the WS critical region. The deletions were confirmed and both were maternal origin by polymorphism analysis. CONCLUSION: MLPA is a quick and convenient method for detecting deletion or duplication mutations. It can provide reliable and helpful information for clinical diagnose of Williams syndrome.


Assuntos
Reação em Cadeia da Ligase/métodos , Deleção de Sequência , Síndrome de Williams/genética , Criança , Humanos , Masculino , Sondas de Oligonucleotídeos/genética , Síndrome de Williams/diagnóstico , Adulto Jovem
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