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1.
Molecules ; 27(18)2022 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-36144798

RESUMO

A new photoacoustic soot spectrometer (PASS) operating at 880 nm was developed, for the first time, for filter-free measurements of black carbon (BC). The performance of the developed PASS was characterized and evaluated using a reference aethalometer AE51 on incense smoke in the air. An excellent correlation on the measurement of incense smoke was found between the two instruments in comparison with a regression coefficient of 0.99. A 1 σ detection limit of 0.8 µg m-3 was achieved for BC measurement at a time resolution of 1 s. It can be further reduced to 0.1 µg m-3, using a longer integration time of 1 min.


Assuntos
Poluentes Atmosféricos , Fuligem , Poluentes Atmosféricos/análise , Carbono/análise , Monitoramento Ambiental , Análise Espectral
2.
J Endocrinol Invest ; 44(12): 2709-2723, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34043214

RESUMO

PURPOSE: To investigate the association between urinary complement proteins and renal outcome in biopsy-proven diabetic nephropathy (DN). METHODS: Untargeted proteomic and Kyoto Encyclopedia of Genes and Genomes (KEGG) functional analyses and targeted proteomic analysis using parallel reaction-monitoring (PRM)-mass spectrometry was performed to determine the abundance of urinary complement proteins in healthy controls, type 2 diabetes mellitus (T2DM) patients, and patients with T2DM and biopsy-proven DN. The abundance of each urinary complement protein was individually included in Cox proportional hazards models for predicting progression to end-stage renal disease (ESRD). RESULTS: Untargeted proteomic and functional analysis using the KEGG showed that differentially expressed urinary proteins were primarily associated with the complement and coagulation cascades. Subsequent urinary complement proteins quantification using PRM showed that urinary abundances of C3, C9, and complement factor H (CFAH) correlated negatively with annual estimated glomerular filtration rate (eGFR) decline, while urinary abundances of C5, decay-accelerating factor (DAF), and CD59 correlated positively with annual rate of eGFR decline. Furthermore, higher urinary abundance of CFAH and lower urinary abundance of DAF were independently associated with greater risk of progression to ESRD. Urinary abundance of CFAH and DAF had a larger area under the curve (AUC) than that of eGFR, proteinuria, or any pathological parameter. Moreover, the model that included CFAH or DAF had a larger AUC than that with only clinical or pathological parameters. CONCLUSION: Urinary abundance of complement proteins was significantly associated with ESRD in patients with T2DM and biopsy-proven DN, indicating that therapeutically targeting the complement pathway may alleviate progression of DN.


Assuntos
Proteínas do Sistema Complemento , Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas , Falência Renal Crônica , Rim/patologia , Biópsia/métodos , Proteínas do Sistema Complemento/metabolismo , Proteínas do Sistema Complemento/urina , Correlação de Dados , Nefropatias Diabéticas/etiologia , Nefropatias Diabéticas/metabolismo , Nefropatias Diabéticas/fisiopatologia , Progressão da Doença , Descoberta de Drogas , Feminino , Humanos , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/metabolismo , Falência Renal Crônica/prevenção & controle , Testes de Função Renal/métodos , Masculino , Pessoa de Meia-Idade , Prognóstico , Modelos de Riscos Proporcionais , Proteinúria/diagnóstico , Proteinúria/etiologia , Proteômica/métodos , Transdução de Sinais/efeitos dos fármacos
3.
J Endocrinol Invest ; 43(9): 1213-1220, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32147762

RESUMO

PURPOSE: To investigate the relationships between hematuria, clinicopathological features and renal outcomes in patients with biopsy-proven diabetic nephropathy (DN). METHODS: This cohort study included 261 patients with DN. Participants were divided into two groups according to number of red blood cells per high-power field (RBC/hpf) in urine sediment: the hematuria (-) group (≤ 3 RBC/hpf) and the hematuria (+) group (> 3 RBC/hpf). Basic clinical parameters were measured at the time of renal biopsy; relationships between hematuria and clinicopathological features and renal outcomes were analyzed. RESULTS: Patients in the hematuria (+) group often had overt proteinuria. Interstitial inflammation was more severe in the hematuria (+) group than in the hematuria (-) group. Glomerular arteriolar hyalinosis, interstitial fibrosis and tubular atrophy were comparable between groups. For patients with early DN (eGFR ≥ 60 ml/min/1.73 m2), urinary RBC/hpf at baseline was positively correlated with glomerular classification, interstitial fibrosis/tubular atrophy scores and interstitial inflammation scores. In prognostic analysis, hematuria was associated with a higher risk of progression to end-stage renal disease. Hematuria remained an independent predictor after adjustment for confounding factors such as sex, age, duration of diabetes, serum glucose level, hypertension, cholesterol, eGFR and urine protein excretion, especially in patients with early DN and in male patients. CONCLUSION: In this study, hematuria was associated with more severe renal pathologic lesions in patients with DN. The presence of hematuria could be an independent predictor of renal outcome in patients with early DN.


Assuntos
Nefropatias Diabéticas/diagnóstico , Hematúria/diagnóstico , Rim/patologia , Rim/fisiopatologia , Idoso , Biópsia , Estudos de Coortes , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/patologia , Nefropatias Diabéticas/complicações , Nefropatias Diabéticas/patologia , Progressão da Doença , Feminino , Taxa de Filtração Glomerular , Hematúria/complicações , Hematúria/patologia , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Hipertensão/patologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos
4.
J Endocrinol Invest ; 39(3): 333-40, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26260218

RESUMO

OBJECTIVES: Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria which is caused by mutations in the SLC12A3 gene. In this study, we reported a case of GS pedigree and reviewed pertinent literature so as to explore the relationship between clinical characteristics and genotype meanwhile provide recommendations for the diagnosis and treatment of GS. DESIGN AND METHODS: This is a pedigree-based genetic study of GS and 11 members from one family were included. We summarized their clinical features, analyzed laboratory parameters related to GS and SLC12A3 gene. RESULTS: The proband experienced intermittent severe symptoms of weakness accompanied by significant hypokalemia, hypomagnesemia and hypocalciuria in laboratory test with poor treatments. His mother had more slight symptoms of weakness than him with mild hypokalemia and hypocalciuria. Mild hypomagnesemia was also observed in his sister with occasional weakness. All other pedigree members had normal laboratory test with no GS-related symptoms. A homozygous mutation of SLC12A3 gene (c.488C > T) was detected by genetic testing in three members, and six were carriers of this mutation. CONCLUSIONS: Genotype and phenotype vary significantly among GS patients. Male patients tend to experience more severe symptoms and poor treatment effect. Further large-scale population, animal, and molecular biology experiments are required to investigate the complexity of GS and to find a better treatment regimen for this disease.


Assuntos
Síndrome de Gitelman/genética , Mutação/genética , Adulto , Povo Asiático , Feminino , Testes Genéticos , Genótipo , Homozigoto , Humanos , Masculino , Linhagem , Fenótipo , Prognóstico , Membro 3 da Família 12 de Carreador de Soluto/genética
5.
Int J Clin Pract ; 68(11): 1318-32, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24853116

RESUMO

OBJECTIVE: To demonstrate if weight loss achieved with acarbose in individuals with hyperglycaemia differs between Eastern and Western populations. METHODS: Databases and reference lists of clinical trials on acarbose were searched. Eligible studies were randomised controlled trials of acarbose monotherapy in populations with hyperglycaemia of more than 12-week duration that provided data on body weight (BW) or body mass index (BMI). RESULTS: A total of 34 trials (6082 participants) were included. The effect of acarbose on BW was superior to that of placebo [weighted mean difference (WMD) = -0.52, 95% confidence interval (CI) -0.78 to -0.25], nateglinide (WMD = -1.33, 95% CI -1.51 to -0.75) and metformin (WMD = -0.67, 95% CI -1.14 to -0.20). Compared with placebo, there was a significantly greater weight loss of 0.92 kg (p < 0.05, I(2)  = 88.8%) with acarbose in Eastern populations (WMD = -1.20, 95% CI -1.51 to -0.75) than that in Western populations (WMD = -0.28, 95% CI -0.59 to 0.03). Across all studies, the acarbose group achieved a significantly larger absolute weight loss of (change from baseline) 1.35 kg (p < 0.05, I(2)  = 94.3%) in Eastern populations (WMD = -2.26, 95% CI -2.70 to -1.81) than in Western populations (WMD = -0.91, 95% CI -1.36 to -0.47). Nevertheless, the possible risk of bias in Eastern studies may influence the results. CONCLUSION: The effect of acarbose on weight loss seems to be more pronounced in Eastern than in Western populations with hyperglycaemia, and is superior to that of placebo, nateglinide and metformin across both ethnicities.


Assuntos
Acarbose/uso terapêutico , Povo Asiático/genética , Diabetes Mellitus Tipo 2/etnologia , Hiperglicemia/etnologia , Hipoglicemiantes/uso terapêutico , Redução de Peso/genética , População Branca/genética , Diabetes Mellitus Tipo 2/tratamento farmacológico , Feminino , Humanos , Hiperglicemia/tratamento farmacológico , Masculino , Metformina/uso terapêutico
6.
Genet Mol Res ; 13(4): 10615-21, 2014 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-25526182

RESUMO

Evidence has shown that miR-146a is involved in carcinogenesis and a common G/C variant (rs2910164) in the pre-miR-146a gene has been found to be associated with various cancers. We investigated the potential prognostic role of miR-146a polymorphism in prostate cancer after radical prostatectomy. Seventy-two southern Chinese with prostate cancer undergoing radical prostatectomy were included in this study. miR-146a polymorphism was analyzed by PCR-RFLP. Its prognostic role in biochemical recurrence was assessed using Kaplan-Meier analysis and Cox regression model. We did not find a significant association between miR-146a polymorphism and prostrate-specific antigen failure in the Chinese population [HR (95%CI): 0.83 (0.30-2.32) for CC vs GG/GC]. However, high Gleason score (over 8) was associated with increased biochemical recurrence and poorer PSA-free survival. This study was limited by the length of follow-up. Future studies with longer follow-up would allow evaluation of more direct metrics, such as disease-specific survival, metastasis-free survival, and overall survival.


Assuntos
MicroRNAs/genética , Polimorfismo Genético , Prostatectomia/estatística & dados numéricos , Neoplasias da Próstata/diagnóstico , Idoso , China , Humanos , Masculino , Prognóstico , Antígeno Prostático Específico/metabolismo , Neoplasias da Próstata/genética , Neoplasias da Próstata/cirurgia , Recidiva , Fatores de Risco
7.
J Vet Cardiol ; 49: 38-43, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37633187

RESUMO

A 10-month-old female spayed Scottish Fold was referred to cardiology for incidental radiographic cardiomegaly. Echocardiography was suspicious for a right atrial or right auricular aneurysm. The differential diagnosis also included peritoneal-pericardial diaphragmatic hernia, mass lesion (cyst, granuloma, or neoplasia), or cardiac malformation. A giant right atrial aneurysm associated with a persistent left cranial vena cava was subsequently confirmed with computed tomography.


Assuntos
Aneurisma , Fibrilação Atrial , Doenças do Gato , Cardiopatias Congênitas , Feminino , Gatos , Animais , Fibrilação Atrial/veterinária , Veia Cava Superior/diagnóstico por imagem , Veia Cava Superior/anormalidades , Veia Cava Superior/patologia , Aneurisma/complicações , Aneurisma/diagnóstico por imagem , Aneurisma/veterinária , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/veterinária , Cardiomegalia/veterinária , Doenças do Gato/diagnóstico por imagem
8.
Genet Mol Res ; 11(3): 3051-62, 2012 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-23007982

RESUMO

Evidence has shown that miR-146a is involved in carcinogenesis, and a common G/C variant (rs2910164) in the pre-miR-146a gene has been associated with various types of cancer. We summarized the data from 22 published case-control studies on the association between rs2910164 and cancer risk and performed subgroup analyses by ethnicity, gender and smoking status. We found a significant association between the pre-miR-146a polymorphism and cancer risk in Caucasian populations (odds ratio (OR) = 0.93, 95% confidence interval (CI) = 0.88-0.99 for G- vs C-allele), while the significance was borderline in Asian populations (OR = 1.11, 95%CI = 1.00-1.23 for G- vs C-allele). A significantly increased risk of cancer was found in males with GG/GC genotypes (OR = 1.23, 95%CI = 1.10- 1.37), and the significance was more pronounced in smokers (OR = 1.82, 95%CI = 1.32-2.51) than in non-smokers (OR = 1.24, 95%CI = 1.01-1.53). We conclude that there is evidence that the pre-miR-146a polymorphism contributes to cancer susceptibilities and that gender and smoking status affect the probability of cancer in individuals with this polymorphism.


Assuntos
Predisposição Genética para Doença , MicroRNAs/genética , Neoplasias/etnologia , Neoplasias/genética , Polimorfismo de Nucleotídeo Único/genética , Caracteres Sexuais , Fumar/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Humanos , Masculino , Modelos Genéticos , Razão de Chances , Viés de Publicação , Precursores de RNA/genética , Fatores de Risco
9.
JDR Clin Trans Res ; 6(1): 77-86, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32075488

RESUMO

INTRODUCTION: Frail older adults residing in long-term care (LTC) facilities are among the most vulnerable to dental caries due to poor oral hygiene (OH), medication-related salivary hypofunction, carbohydrate-rich diets, and limited access to dental care. Providing dental restorations for LTC patients is challenging, and there are few studies investigating the longevity of restorations in this cohort. Multiple restorative materials have been used to restore tooth anatomy as well as address caries prevention using fluoride-based materials. OBJECTIVES: This study examined the longevity of bonded direct restorations placed in LTC patients. Specifically, we examined whether a difference in survival exists between resin composite (RC) and glass ionomer cement (GIC) direct restorations in frail older adults residing in LTC. METHODS: Tooth-colored restorations placed in LTC patients between 2007 and 2012, within the University of British Columbia Geriatric Dentistry Program, were followed annually up to 5 y or until they incurred an event (i.e., re-restoration or tooth extraction) or the patient was lost to follow-up or deceased. Restoration status was documented within the Clinical Oral Disorder in Elders (CODE) Index annual oral health assessments. Mixed-effect logistic regression was calculated to determine hazard ratios, address within-patient correlation, and measure the effect size of multiple covariates. RESULTS: A total of 3,201 dental restorations placed in 846 LTC patients were followed. This cohort of patients had a mean age of 86 y and high levels of oral and systemic disease. Over half were wheelchair bound and had compromised ability to perform OH. The overall 5-y survival rate was 60.3%, and there was no statistically significant difference in survival between RC and GIC. CONCLUSION: Tooth-colored restorations had reasonable longevity in LTC patients and had comparable survival to restorations placed in functionally independent, community-dwelling geriatric populations. No difference between RC and GIC was found with regards to restoration longevity in this population. KNOWLEDGE TRANSFER STATEMENT: Direct restorations provided to frail older adults residing in LTC have reasonable longevity and should be expected to survive for the remainder of the patient's life. As no detectable difference exists in survival rates between RC and GIC, operators should select appropriate restorative materials based on clinical conditions, patient factors, physical properties, and personal preference.


Assuntos
Cárie Dentária , Idoso , Falha de Restauração Dentária , Restauração Dentária Permanente , Idoso Fragilizado , Humanos , Taxa de Sobrevida
10.
Zhonghua Shao Shang Za Zhi ; 36(0): E001, 2020 Feb 20.
Artigo em Chinês | MEDLINE | ID: mdl-32077663

RESUMO

For effective resistance to virus attack and infection, reducing virus transmission chance, it is extremely important for the medical staff and related workers to have their own safe protection. This paper summarizes the development causes, common locations, and prevention ways about the device related pressure injuries on the face resulted from wearing medical-grade protective equipment for a long working time. The paper proposes the nursing strategy for device related pressure injuries and other nursing strategy is proposed to take care efficiently the device related pressure injuries. Meantime, a corresponding nursing strategy is also suggested to deal with the correlative skin diseases during the application of medical-grade protective equipment. These paper aims to provide reference for the prevention of device related pressure injuries and the care of skin-related diseases for clinical working staff, especially to the respectable personnel in front line of fighting against Corona virus disease 2019.

11.
Trends Cell Biol ; 3(10): 340-5, 1993 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14731903

RESUMO

Since Darwin first noted that not all plants produce self-seed, several mechanisms that regulate the acceptance or rejection of pollen during fertilization have been recognized, of which self-incompatibility (SI) is the most widespread. Over the past few years much progress has been made in understanding the molecular and cellular processes involved in SI. Here we review recent studies of the SI systems of Nicotiana alata and Papaver rhoeas. The SI systems are both determined by a single, multi-allelic gametophytically controlled S-gene, but involve quite different mechanisms.

12.
Cochrane Database Syst Rev ; (2): CD001429, 2008 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-18425873

RESUMO

BACKGROUND: Emergency intubation has been widely advocated as a life saving procedure in severe acute illness and injury associated with real or potential compromises to the patient's airway and ventilation. However, some initial data have suggested a lack of observed benefit. OBJECTIVES: To determine in acutely ill and injured patients who have real or anticipated problems in maintaining an adequate airway whether emergency endotracheal intubation, as opposed to other airway management techniques, improves the outcome in terms of survival, degree of disability at discharge or length of stay and complications occurring in hospital. SEARCH STRATEGY: We searched the Cochrane Injuries Group Specialised Register (December 2006), Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2006, Issue 4), MEDLINE (1950 to November 2006), EMBASE (1980 to week 50, December 2006), National Research Register (Issue 4, 2006), CINAHL (1980 to December 2006), BIDS (to December 2006) and ICNARC (to December 2006). We also examined reference lists of articles for relevant material and contacted experts in the field. Non-English language publications were searched for and examined. SELECTION CRITERIA: All randomised (RCTs) or controlled clinical trials involving the emergency use of endotracheal intubation in the injured or acutely ill patient were examined. DATA COLLECTION AND ANALYSIS: The full texts of 452 studies were reviewed independently by two authors using a standard form. Where the review authors felt a study may be relevant for inclusion in the final review or disagreed, the authors examined the study and a collective decision was made regarding its inclusion or exclusion from the review. The results were not combined in a meta-analysis due to the heterogeneity of patients, practitioners and alternatives to intubation that were used. MAIN RESULTS: We identified three eligible RCTs carried out in urban environments. Two trials involved adults with non-traumatic out-of-hospital cardiac arrest. One of these trials found a non-significant survival disadvantage in patients randomised to receive a physician-operated intubation versus a combi-tube (RR 0.44, 95% CI 0.09 to 1.99). The second trial detected a non-significant survival disadvantage in patients randomised to paramedic intubation versus an oesophageal gastric airway (RR 0.86, 95% CI 0.39 to 1.90). The third included study was a trial of children requiring airway intervention in the prehospital environment. The results indicated no difference in survival (OR 0.82, 95% CI 0.61 to 1.11) or neurologic outcome (OR 0.87, 95% CI 0.62 to 1.22) between paramedic intubation versus bag-valve-mask ventilation and later hospital intubation by emergency physicians; however, only 42% of the children randomised to paramedic endotracheal intubation actually received it. AUTHORS' CONCLUSIONS: The efficacy of emergency intubation as currently practised has not been rigorously studied. The skill level of the operator may be key in determining efficacy. In non-traumatic cardiac arrest, it is unlikely that intubation carries the same life saving benefit as early defibrillation and bystander cardiopulmonary resuscitation (CPR). In trauma and paediatric patients, the current evidence base provides no imperative to extend the practice of prehospital intubation in urban systems. It would be ethical and pertinent to initiate a large, high quality randomised trial comparing the efficacy of competently practised emergency intubation with basic bag-valve-mask manoeuvres (BVM) in urban adult out-of-hospital non-traumatic cardiac arrest.


Assuntos
Obstrução das Vias Respiratórias/terapia , Parada Cardíaca/terapia , Intubação Intratraqueal/métodos , Ferimentos e Lesões/terapia , Doença Aguda , Adulto , Criança , Emergências , Auxiliares de Emergência , Medicina de Emergência , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
13.
Biomicrofluidics ; 12(4): 044119, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30174777

RESUMO

A custom-built mask aligner (CBMA), which fundamentally covers all the key features of a commercial mask aligner, while being low cost and light weight and having low power consumption and high accuracy, is constructed. The CBMA is composed of a custom high fidelity light emitting diode light source, a vacuum chuck, a mask holder, high-precision translation and rotation stages, and high resolution digital microscopes. The total cost of the system is under $7500, which is over ten times cheaper than a comparable commercial system. It produces a collimated ultraviolet illumination of 1.8-2.0 mW cm-2 over an area of a standard 4-in. wafer, at the plane of photoresist exposure, and the alignment accuracy is characterized to be <3 µm, which is sufficient for most microfluidic applications. Moreover, this manuscript provides detailed descriptions of the procedures needed to fabricate multilayered master molds using our CBMA. Finally, the capabilities of the CBMA are demonstrated by fabricating two- and three-layer masters for micro-scale devices, commonly encountered in biomicrofluidic applications. The former is a flow-free chemical gradient generator, and the latter is an addressable microfluidic stencil. Scanning electron microscopy is used to confirm that the master molds contain the intended features of different heights.

14.
Cancer Genomics Proteomics ; 15(1): 67-72, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29275364

RESUMO

BACKGROUND: Key genes related to cell cycle and apoptosis pathways play critical roles in bladder cancer. Single nucleotide polymorphisms (SNPs) in the 3'-untranslated regions (3'-UTR) of genes may impact microRNA (miRNA)-messenger RNA (mRNA) binding capacity and alter gene expression to contribute to the susceptibility of cancers. However, an association of genetic variations in cell cycle and apoptosis pathways with bladder cancer risk, has not been reported. MATERIALS AND METHODS: We selected SNPs in the 3'-UTR of cell cycle and apoptosis pathways genes and genotyped them with a case-control study consisting of 578 bladder cancer patients and 1,006 cancer-free subjects. Dual luciferase reporter gene assay was performed to validate the biological function of important SNPs. RESULTS: We found that 5 SNPs might change the binding ability of miRNA to their target genes, among which PPP3CC rs7431 A>G located in the 3'-untranslated regions with the minimum p-value (p=5.75×10-4). Analysis revealed that the rs7431 disrupted miR-212 and miR-132 targeting sites. Logistic regression revealed a significantly decreased risk of bladder cancer associated with the PPP3CC rs7431 A>G polymorphism with an odds ratio (OR) of 0.76 [95% confidence interval (CI)=0.66-0.89, p=5.75×10-4]. Luciferase report assay showed that both miR-212 and miR-132 could lead to significantly increased PPP3CC expression levels in the construct with the G allele compared to the A allele. CONCLUSION: PPP3CC rs7431 may alter miRNA binding ability of miR-212 and miR-132, and thus decrease bladder cancer risk.


Assuntos
Regiões 3' não Traduzidas , Calcineurina/genética , Polimorfismo de Nucleotídeo Único , Neoplasias da Bexiga Urinária/genética , Apoptose/genética , Calcineurina/metabolismo , Genes cdc , Humanos , MicroRNAs/metabolismo , Risco
15.
Braz J Med Biol Res ; 49(11): e5261, 2016 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-27783806

RESUMO

Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not present symptoms. The inconsistent clinical features of this pedigree implied that besides diverse phenotypes possibly originated from the same genotype, gender difference may also dominate the variant GS phenotypes. Further genetic and proteomic research are needed to investigate the precise mechanisms of GS, including the study of specific ethnicities.


Assuntos
Síndrome de Gitelman/genética , Homozigoto , Mutação/genética , Membro 3 da Família 12 de Carreador de Soluto/genética , Povo Asiático , Feminino , Síndrome de Gitelman/diagnóstico , Humanos , Masculino , Linhagem , Fenótipo , Adulto Jovem
16.
Biochim Biophys Acta ; 659(2): 283-91, 1981 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-6266487

RESUMO

Pure collagenase (clostridiopeptidase A, EC 3.4.24.3) having a molecular weight of 70 000 was obtained from the culture medium of Clostridium histolyticym by a combination of ultrafiltrations, molecular sieve, affinity and hydrophobic chromatography. The value of its specific activity is the highest of those described previously but 6-times lower than that of the collagenase from Achromobacter iophagus (EC 3.4.24.8). Its amino acid composition differs from previous data, namely by the presence of cysteine, methionine, tryptophan and O-phosphoserine residues. In contrast to Achromobacter collagenase it does not dissociate in subunits during the deactivation by EDTA or LiCl/glycine buffer at pH 10.5. Existence of multiple forms of Clostridium collagenase previously described is discussed as being due to autolysis of a single molecular species or to a different degree of phosphorylation.


Assuntos
Clostridium/enzimologia , Colagenase Microbiana/metabolismo , Alcaligenes/enzimologia , Aminoácidos/análise , Dicroísmo Circular , Ácido Edético/farmacologia , Colagenase Microbiana/isolamento & purificação , Peso Molecular , Fosfosserina/análise
17.
Biochim Biophys Acta ; 658(2): 209-19, 1981 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-7018579

RESUMO

Hypodermin A, a serine proteinase from the larva Hypoderma lineatum, with a molecular weight of 27 000 was obtained in pure form by ion-exchange chromatography. It is inhibited by diisopropyl phosphofluorate, a serine proteinase inhibitor, but not by metallo or cysteine enzyme inhibitors such as EDTA or thiol reagents. In the same way, it is fully inactivated by trypsin inhibitors, but not by specific chymotrypsin inhibitors. Its specificity, limited to carboxyl side of arginine residue in B-chain of insulin, is more complicated on other polypeptide substrates. Sequence analysis suggests structural homology with H. lineatum collagenase as well as with other members of the trypsin family.


Assuntos
Dípteros/enzimologia , Endopeptidases/isolamento & purificação , Serina Endopeptidases , Sequência de Aminoácidos , Animais , Arginina/análogos & derivados , Larva/enzimologia , Peso Molecular , Especificidade por Substrato , Inibidores da Tripsina/farmacologia
18.
QJM ; 108(5): 379-85, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25336254

RESUMO

OBJECTIVE: To assess the iodine nutritional status and investigate the prevalence of thyroid diseases in a community population in Chengdu, China. METHODS: Eighty school-age children were randomly selected for measurements of urinary iodine concentration. A total of 1500 residents over the age of 18 who had lived in Chengdu for more than 5 years were selected by stratified cluster sampling. Serum thyroid hormone concentrations and thyroid autoantibodies were measured, and thyroid ultrasonography was performed. RESULTS: The median urine iodine concentration was 184 µg/l in school-age children. The prevalence of clinical hyperthyroidism, subclinical hyperthyroidism, clinical hypothyroidism and subclinical hypothyroidism was 0.97%, 1.95%, 0.90% and 5.55%, respectively. The prevalence of thyroid autoantibodies and thyroid nodules was 15.82% and 16.87%, respectively. The prevalence of clinical hyper- and hypothyroidism was greater in females than in males (P < 0.05). The prevalence of subclinical hyper- and hypothyroidism, thyroid nodules and thyroid autoantibodies increased significantly with age (P < 0.05). The rate of new abnormal TSH was 9.37%, and the average serum Thyroid Stimulating Hormone (TSH) concentrations increased with age. When TSH >0.71 mU/l, the prevalence of positive TPOAb and/or TgAb increased significantly with rising concentrations of TSH (P < 0.05); however, the prevalence of thyroid nodules did not increase with escalating concentrations of TSH (P = 0.09). CONCLUSION: Subclinical thyroid diseases, especially subclinical hypothyroidism and thyroid nodules, are common in an iodine sufficient area. Females and the elderly might benefit from routine screening for thyroid diseases, followed by appropriate detection and treatment.


Assuntos
Autoanticorpos/sangue , Iodo/urina , Doenças da Glândula Tireoide/epidemiologia , Hormônios Tireóideos/sangue , Nódulo da Glândula Tireoide/epidemiologia , Tireotropina/sangue , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , China/epidemiologia , Estudos Epidemiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Distribuição por Sexo , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia , Adulto Jovem
19.
Acta Physiol (Oxf) ; 214(4): 450-66, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25846948

RESUMO

BACKGROUND: Adipose afferent reflex (AAR) contributes to sympathetic activation and hypertension. Paraventricular nucleus (PVN) plays an important role in AAR and sympathetic outflow. The aim of the present study was to determine whether PVN mediates AAR response to insulin in a rat model of insulin resistance (IR). METHODS: Male Sprague-Dawley rats were randomly divided into Control and IR groups. Insulin resistance was induced by supplementing fructose (125 g L(-1) , 12 weeks) in the drinking water. Renal sympathetic nerve activity (RSNA) and mean arterial pressure (MAP) were recorded in anesthetized rats. AAR was evaluated by the RSNA and MAP responses to injection of capsaicin into four sites of right inguinal white adipose tissue. RESULTS: Rats in IR group showed a rise in plasma noradrenaline (NE), glucose, insulin and triglyceride levels, left ventricular weight, systolic blood pressure, homeostasis model assessment of insulin resistance (HOMA-IR) and PVN glucose and insulin levels, melanocortin 4 type receptors (MC4Rs) protein expression, but not MC3Rs and insulin receptors. Compared with Control group, AAR in IR group was significantly enhanced, which contributed to the elevation of NE level; and insulin microinjection into the PVN or the third ventricle significantly strengthened AAR, which was attenuated by pre-treatment with MC4Rs antagonist HS024 and anti-insulin affibody, respectively, but not insulin receptors antagonist S961. CONCLUSION: The enhanced AAR participates in sympathetic activation in IR, which can be strengthened by PVN insulin. PVN MC4Rs mediate the AAR response to insulin in IR, but not MC3Rs and insulin receptors.


Assuntos
Tecido Adiposo Branco/metabolismo , Resistência à Insulina/fisiologia , Núcleo Hipotalâmico Paraventricular/metabolismo , Receptor Tipo 4 de Melanocortina/metabolismo , Sistema Nervoso Simpático/fisiologia , Tecido Adiposo Branco/fisiologia , Vias Aferentes/fisiologia , Animais , Modelos Animais de Doenças , Insulina , Masculino , Ratos , Ratos Sprague-Dawley , Reflexo/fisiologia
20.
J Vet Intern Med ; 29(3): 893-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25900766

RESUMO

BACKGROUND: Abdominal ultrasound examinations (AUS) are commonly performed before advanced neurodiagnostics to screen for diseases that might affect diagnostic plans and prognosis. OBJECTIVES: Describe the type and frequency of abnormalities found by AUS in dogs presenting with a neurological condition, identify risk factors associated with abnormalities, and evaluate treatment decisions based on findings. ANIMALS: Seven hundred and fifty-nine hospitalized dogs. METHODS: Retrospective study. Medical records of dogs presented from 2007 to 2009 for neurologic disease were searched for signalment, neuroanatomic localization, and AUS findings. Whether dogs had advanced neurodiagnostics and treatment was analyzed. RESULTS: Fifty-eight percent of dogs had abnormal findings on AUS. Probability of abnormalities increased with age (P < 0.001). Nondachshund breeds had higher probability of abnormal AUS than dachshunds (odds ratio [OR] = 1.87). Eleven percent of dogs did not have advanced neurodiagnostics and in 1.3%, this was because of abnormal AUS. Dogs with ultrasonographic abnormalities were less likely than dogs without to have advanced neurodiagnostics (OR = 0.3 [95% confidence interval [CI]: 0.17, 0.52]), however, the probability of performing advanced diagnostics was high regardless of normal (OR = 0.95 [95% CI: 0.92, 0.97]) or abnormal (OR = 0.85 [95% CI: 0.81, 0.88]) AUS. Treatment was more often pursued in small dogs and less often in dogs with brain disease. CONCLUSIONS AND CLINICAL IMPORTANCE: Findings from screening AUS had a small negative effect on the likelihood of pursuing advanced neurodiagnostics. Although it should be included in the extracranial diagnostic workup in dogs with significant history or physical examination abnormalities, AUS is considered a low-yield diagnostic test in young dogs and dachshunds.


Assuntos
Abdome/diagnóstico por imagem , Doenças do Cão/diagnóstico por imagem , Doenças do Sistema Nervoso/veterinária , Fatores Etários , Animais , Doenças do Cão/diagnóstico , Cães , Feminino , Masculino , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/diagnóstico por imagem , Estudos Retrospectivos , Fatores de Risco , Especificidade da Espécie , Ultrassonografia
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