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1.
Artigo em Inglês | MEDLINE | ID: mdl-37003650

RESUMO

The micronucleus (MN) test may be used to evaluate genome instability in birds and the potential of different species to function as biomarkers of genotoxicity. However, little is known regarding genome instability in seabird embryos or the instability present among embryonic development stages. Therefore, the present study aimed to describe the frequencies of micronucleated erythrocytes (MNE) and micronucleated polychromatic erythrocytes (MNPCE) in blood samples collected from the embryos of eight seabird species nesting on the coast of Sinaloa, Mexico. An additional description of blood cell maturation along with embryo development during incubation was conducted based on the proportion of polychromatic erythrocytes (PCE), and the potential relationships between metals (Hg and Cd concentrations in egg content) and the MN frequencies in embryo blood were evaluated. The PCE proportion appears to decline as incubation advances (initial stage > intermediate stage > advanced stage), and the values varied between species (Suliformes/Pelecaniformes < Charadriiformes: Laridae), which may be related to differences among incubation periods and reproductive strategies. Interspecific variation in the MNPCE frequency was found in embryos showing advanced development, which could be related to both variations in life-history traits and ecological factors and not Hg or Cd exposure. The genomic instability values in this study are the first to be reported for embryos of seabird species nesting in a subtropical coastal region.


Assuntos
Cádmio , Micronúcleos com Defeito Cromossômico , Animais , Gravidez , Feminino , Micronúcleos com Defeito Cromossômico/induzido quimicamente , México , Testes para Micronúcleos , Eritrócitos , Aves , Instabilidade Genômica , Biomarcadores
2.
Neuromuscul Disord ; 32(8): 687-691, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35688744

RESUMO

Tropomyosin 3 (TPM3) gene mutations associate with autosomal dominant and recessive nemaline myopathy 1 (NEM1), congenital fiber type disproportion myopathy (CFTD) and cap myopathy (CAPM1), and a combination of caps and nemaline bodies. We report on a 47-year-old man with polyglobulia, restricted vital capacity and mild apnea hypopnea syndrome, requiring noninvasive ventilation. Physical assessment revealed bilateral ptosis and facial paresis, with high arched palate and retrognathia; global hypotonia and diffuse axial weakness, including neck and upper and lower limb girdle and foot dorsiflexion weakness. Whole body MRI showed a diffuse fatty replacement with an unspecific pattern. A 122 gene NGS neuromuscular disorders panel revealed the heterozygous VUS c.709G>A (p.Glu237Lys) on exon 8 of TMP3. A deltoid muscle biopsy showed a novel histological pattern combining fiber type disproportion and caps. Our findings support the pathogenicity of the novel TPM3 variant and widen the phenotypic gamut of TMP3-related congenital myopathy.


Assuntos
Miopatias da Nemalina , Miopatias Congênitas Estruturais , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Mutação , Miopatias da Nemalina/genética , Miopatias Congênitas Estruturais/genética , Miopatias Congênitas Estruturais/patologia , Tropomiosina/genética
3.
Int J Mol Sci ; 22(16)2021 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-34445140

RESUMO

Overproduction of inflammatory cytokines is a keystone event in COVID-19 pathogenesis; TNF and its receptors (TNFR1 and TNFR2) are critical pro-inflammatory molecules. ADAM17 releases the soluble (sol) forms of TNF, TNFR1, and TNFR2. This study evaluated TNF, TNFRs, and ADAM17 at the protein, transcriptional, and gene levels in COVID-19 patients with different levels of disease severity. In total, 102 patients were divided into mild, moderate, and severe condition groups. A group of healthy donors (HD; n = 25) was included. Our data showed that solTNFR1 and solTNFR2 were elevated among the COVID-19 patients (p < 0.0001), without increasing the transcriptional level. Only solTNFR1 was higher in the severe group as compared to the mildly ill (p < 0.01), and the level was higher in COVID-19 patients who died than those that survived (p < 0.0001). The solTNFR1 level had a discrete negative correlation with C-reactive protein (p = 0.006, Rho = -0.33). The solADAM17 level was higher in severe as compared to mild disease conditions (p < 0.01), as well as in COVID-19 patients who died as compared to those that survived (p < 0.001). Additionally, a potential association between polymorphism TNFRSF1A:rs767455 and a severe degree of disease was suggested. These data suggest that solTNFR1 and solADAM17 are increased in severe conditions. solTNFR1 should be considered a potential target in the development of new therapeutic options.


Assuntos
Proteína ADAM17 , COVID-19/imunologia , Receptores Tipo I de Fatores de Necrose Tumoral , Fator de Necrose Tumoral alfa , Proteína ADAM17/sangue , Proteína ADAM17/imunologia , Adulto , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Receptores Tipo I de Fatores de Necrose Tumoral/sangue , Índice de Gravidade de Doença , Fator de Necrose Tumoral alfa/sangue , Fator de Necrose Tumoral alfa/imunologia
4.
Acta Neurol Scand ; 144(5): 546-552, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34131909

RESUMO

OBJECTIVES: The aim of this study was to achieve the translation and cross-cultural adaptation of the MG-QOL15R questionnaire into Spanish and the analysis of its psychometric properties. MATERIALS AND METHODS: We recruited patients with MG, ≥18 years old, whose mother tongue was Spanish. After the translation and cross-cultural adaptation of the MG-QOL15-R, the following tests were performed: internal consistency using the Cronbach-α coefficient and corrected item-total correlations; reproducibility with a test-retest analysis using intraclass correlation coefficients; and concurrent validity using Spearman's correlation coefficient of the Spanish language MG-QOL15R-S, Myasthenia Gravis Activity of Daily Living (MG-ADL) and Quantitative Myasthenia Gravis (QMG) scores. As an approximation to construct validity, the nonparametric Mann-Whitney U test was performed between MG-QOL15R-S scores according to the Myasthenia Gravis Foundation of America classification. RESULTS: A total of 83 MG patients were enrolled, mean age 48.19 ± 17.25 years; 58 (69.9%) were women. The mean MG-QOL15R-S score was 11.3 ± 7.1. Cronbach-α coefficient was 0.92. Item-total correlation ranged between 0.43 and 0.75. Intraclass correlation coefficient was 0.80. The Spearman correlation coefficient was 0.637 (p-value < .001) for MG-ADL and 0.487 (p-value < .001) for QMG. Mann-Whitney U tests of the mean MG-QOL15R-S scores were significantly different according to the clinical severity (p-value < .001). CONCLUSIONS: The Spanish version of the MG-QOL15R is a valid and reliable instrument and potentially useful for measuring health-related quality of life in Spanish-speaking MG patients.


Assuntos
Miastenia Gravis , Qualidade de Vida , Adolescente , Adulto , Idoso , Feminino , Humanos , Idioma , Pessoa de Meia-Idade , Miastenia Gravis/diagnóstico , Reprodutibilidade dos Testes , Inquéritos e Questionários
5.
Res Rep Urol ; 13: 257-262, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34017802

RESUMO

INTRODUCTION: Urethral stricture caused by fibrosis is a common medical condition, but top-line therapy for this pathology has a high recurrence rate. This study aimed to determine the efficacy of hyaluronic acid (HA) treatment in preventing the development of fibrosis in a rabbit model of urethral anastomosis. MATERIALS AND METHODS: This experimental study involved 20 rabbits. HA (0.5 mL, 25 µg/mL) was applied in the experimental group (n = 10) during an experimental urethral anastomosis, and sterile saline (0.9%) solution was applied in the control group (n = 10). Animals underwent reoperation 12 weeks later for urethral resection. Fibrosis, inflammation, and urethral diameter were measured by two blinded pathologists at the site of the anastomosis. RESULTS: The amount of inflammatory infiltrate was similar in both groups. The thicknesses of the collagen fiber band were 275.9 ± 62.3 and 373.4 ± 44.3 µm in the study and control groups (p = 0.001), respectively, and the urethral lumen diameters at the anastomosis site at follow-up were 2575 ± 167 and 2382 ± 214 µm, respectively (p = 0.04). CONCLUSION: HA treatment reduced fibrosis at the anastomosis site during this experiment; we suggest further research to corroborate its efficacy in the treatment of urethral stricture.

6.
Mar Pollut Bull ; 164: 112050, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33515824

RESUMO

The temporal, inter-site, and sex-based variation of 19 organochlorine pesticides (OCPs) in blood plasma samples collected from blue-footed boobies of two islands in Sinaloa, Mexico, was evaluated. The effect of OCPs was evaluated with the heterophil/lymphocyte ratio, micronucleated erythrocyte frequency, and scaled mass index. The OCP-group levels decreased as the breeding season progressed, and interannual (but not inter-colony) differences were detected. Intra-annual variation in OCP levels seemed to reflect run-off inputs, although other environmental processes may better explain the variation between years. Sex-based differences in OCP levels were likely related to ecological and physiological processes linked to breeding (e.g., egg-laying and use of lipid reserves). No correlations between OCP-group levels and biomarkers were detected. Small pelagic fishes are the main prey sources of blue-footed boobies and the targets of regional industrial fisheries, and thus blue-footed booby OCP levels could reflect ecosystem health and indicate potential risks for human consumers.


Assuntos
Hidrocarbonetos Clorados , Praguicidas , Animais , Aves , Ecossistema , Monitoramento Ambiental , Humanos , México
7.
Neuromuscul Disord ; 29(5): 398-400, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31000324

RESUMO

Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch or birthing bar during labor. We present a patient who developed a severe bilateral palsy after playing in a dancing simulator machine. The patient's position during the game was a combination of wrist extension, elbow flexion, retroversion of arms and a degree of minor torsion of both upper limbs. This mechanism has not been reported as a cause of neuropathic damage. An underlying neuropathy was suspected, and most acquired causes of neuropathy were excluded. A sequence analysis showed a novel point mutation in NM_000304.3(PMP22):c.83G>A (p.Trp28Ter), an heterozygous pathogenic variant. Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disorder characterized by recurrent painless entrapment neuropathies; no case of bilateral simultaneous radial paralysis has been reported previously.


Assuntos
Artrogripose/genética , Dança/lesões , Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Radial/genética , Jogos de Vídeo , Códon sem Sentido , Humanos , Masculino , Proteínas da Mielina/genética , Mutação Puntual , Neuropatia Radial/etiologia , Adulto Jovem
8.
Repert. med. cir ; 23(2): 134-138, 2014. tab
Artigo em Espanhol | LILACS | ID: lil-795666

RESUMO

Se busca determinar si el diagnóstico de corioamnionitis en biopsia por congelación de placenta se relaciona con desenlace desfavorable en el recién nacido. Materiales y métodos: cohorte prospectiva de gestantes con alta sospecha de corioamnionitis a quienes se les practicó biopsia por congelación de cordón y membranas con estudio histopatológico usual, y se relacionó con la morbimortalidad del recién nacido. Resultados: en 23 placentas con sospecha de corioamnionitis se hizo estudio por congelación y parafina; cuatro fueron positivos en ambos y 19 negativos. Cinco desarrollaron sepsis temprana, todos con diagnóstico clínico de corioamnionitis en sus madres, de los cuales tres fueron positivos en ambos estudios microscópicos. Conclusiones: se evaluó la sepsis temprana y la mortalidad en hijos de madres con corioamnionitis diagnosticada mediante biopsias por congelación y parafina, evidenciando una adecuada relación. El diagnóstico por congelación fue preciso y temprano, posicionándose como una posible herramienta diagnóstica que permite un abordaje temprano tanto materno como del neonato con infección potencial, para así disminuir los desenlaces adversos con impacto en la morbimortalidad neonatal...


To determine if histological diagnosis of chorioamnionitis in placental biopsy by frozen section is associated with adverse neonatal outcome. Materials and Methods: prospective cohort study performed in pregnant women with high risk of developing chorioamnionitis associated with neonatal morbidity and mortality. A placental biopsy by frozen section of umbilical cord and membranes was conducted and processed by the usual techniques. Results: placental frozen and paraphin-fixed sections were conducted in 23 patients with clinical suspicion of chorioamnionitis; four were positive in both studies and 19 were negative. Five infants born to women with diagnosed chorioamnionitis developed early-onset sepsis, of which three were positive in both histological studies. Conclusions: early-onset sepsis and mortality was evaluated in neonates of mothers with chorioamnionitis diagnosed by frozen and paraphin-fixed sections, evidencing an adequate relationship. Diagnosis by frozen biopsy section was accurate and timely, and has become a diagnostic tool which allows an early approach both in mothers and infants with potential infection, to reduce adverse outcomes impacting neonatal morbidity and mortality...


Assuntos
Recém-Nascido , Biópsia , Corioamnionite , Recém-Nascido , Sepse
9.
Rev Med Inst Mex Seguro Soc ; 47(5): 539-44, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-20550864

RESUMO

OBJECTIVE: To compare the effects of intrathecal isobaric ropivacaine (IR) versus isobaric bupivacaine (IB) in a dose ratio of 3:2 in non-ambulatory urologic and orthopedic surgery. METHODS: One hundred and seventeen patients scheduled for surgery were randomized and assigned in a double-blind fashion to receive either 15 mg of IR (n = 58) or 10 mg of IB (n = 59) into the subarachnoid space. RESULTS: There were no differences about age, sex distribution, body mass index, type of surgical interventions and operative time. Both groups were similar respect to latency time and extension of sensory block. Complete motor blockade was reached in more than 90 % of patients of both groups ten minutes after the intrathecal injection and the length was significantly longer in the IB group (226.4 +/- 22.3 minutes versus 266.5 +/- 29.5, p < 0.001). There was no significant hypotension or bradicardia during the transoperative period. Three and a half hours after the end of the surgery, more patients of the IB group required intravenous analgesics and opiaceous derivates (p < 0.001). CONCLUSIONS: The motor blockade was longer in the IB group but postoperative analgesia was better in the IR group.


Assuntos
Amidas/administração & dosagem , Anestésicos Locais/administração & dosagem , Bupivacaína/uso terapêutico , Procedimentos Ortopédicos , Dor Pós-Operatória/prevenção & controle , Procedimentos Cirúrgicos Urológicos , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ropivacaina
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