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1.
Endocr Relat Cancer ; 30(11)2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37671897

RESUMO

Molecular testing contributes to improving the diagnosis of indeterminate thyroid nodules (ITNs). ThyroidPrint® is a ten-gene classifier aimed to rule out malignancy in ITN. Post-validation studies are necessary to determine the real-world clinical benefit of ThyroidPrint® in patients with ITN. A single-center, prospective, noninterventional clinical utility study was performed, analyzing the impact of ThyroidPrint® in the physicians' clinical decisions for ITN. Demographics, nodule characteristics, benign call rates (BCRs), and surgical outcomes were measured. Histopathological data were collected from surgical biopsies of resected nodules. Of 1272 fine-needle aspirations, 109 (8.6%) were Bethesda III and 135 (10.6%) were Bethesda IV. Molecular testing was performed in 155 of 244 ITN (63.5%), of which 104 were classified as benign (BCR of 67.1%). After a median follow-up of 15 months, 103 of 104 (99.0%) patients with a benign ThyroidPrint® remained under surveillance and one patient underwent surgery which was a follicular adenoma. Surgery was performed in all 51 patients with a suspicious for malignancy as per ThyroidPrint® result and in 56 patients who did not undergo testing, with a rate of malignancy of 70.6% and 32.1%, respectively. A higher BCR was observed in follicular lesion of undetermined significance (87%) compared to atypia of undetermined significance (58%) (P < 0.05). False-positive cases included four benign follicular nodules and six follicular and four oncocytic adenomas. Our results show that, physicians chose active surveillance instead of diagnostic surgery in all patients with a benign ThyroidPrint® result, reducing the need for diagnostic surgery in 67% of patients with preoperative diagnosis of ITN.


Assuntos
Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Humanos , Estudos Prospectivos , Perfilação da Expressão Gênica/métodos , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/genética , Nódulo da Glândula Tireoide/cirurgia , Biópsia por Agulha Fina
2.
PLoS One ; 18(4): e0283845, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37011101

RESUMO

BACKGROUND: Ocular toxoplasmosis (OT) is caused by the parasite Toxoplasma gondii. OT is the leading cause of posterior uveitis globally; it is a recurrent disease that may result in visual impairment and blindness. This systematic review and meta-analysis aim to summarize and evaluate the risk factors for recurrences, visual impairment, and blindness described in the literature worldwide. METHODS AND FINDINGS: We performed a systematic literature search in PubMed, Embase, VHL, Cochrane Library, Scopus, and DANS EASY Archive. All studies reporting patients with clinically and serologically confirmed OT presenting any clinical or paraclinical factor influencing recurrences, visual impairment, and blindness were included. Studies presenting secondary data, case reports, and case series were excluded. An initial selection was made by title and abstract, and then the studies were reviewed by full text where the eligible studies were selected. Then, the risk of bias was assessed through validated tools. Data were extracted using a validated extraction format. Qualitative synthesis and quantitative analysis were done. This study was registered on PROSPERO (CRD42022327836). RESULTS: Seventy two studies met the inclusion criteria. Fifty-three were summarized in the qualitative synthesis in three sections: clinical and environmental factors, parasite and host factors, and treatment-related factors. Of the 72 articles, 39 were included in the meta-analysis, of which 14 were conducted in South America, 13 in Europe, four in Asia, three multinational, two in North America and Central America, respectively, and only one in Africa. A total of 4,200 patients with OT were analyzed, mean age ranged from 7.3 to 65.1 year of age, with similar distribution by sex. The frequency of recurrences in patients with OT was 49% (95% CI 40%-58%), being more frequent in the South American population than in Europeans. Additionally, visual impairment was presented in 35% (95% CI 25%-48%) and blindness in 20% (95% CI 13%-30%) of eyes, with a similar predominance in South Americans than in Europeans. On the other hand, having lesions near the macula or adjacent to the optic nerve had an OR of 4.83 (95% CI; 2.72-8.59) for blindness, similar to having more than one recurrence that had an OR of 3.18 (95% CI; 1.59-6.38). Finally, the prophylactic therapy with Trimethoprim/Sulfamethoxazole versus the placebo showed a protective factor of 83% during the first year and 87% in the second year after treatment. CONCLUSION: Our Systematic Review showed that clinical factors such as being older than 40 years, patients with de novo OT lesions or with less than one year after the first episode, macular area involvement, lesions greater than 1 disc diameter, congenital toxoplasmosis, and bilateral compromise had more risk of recurrences. Also, environmental and parasite factors such as precipitations, geographical region where the infection is acquired, and more virulent strains confer greater risk of recurrences. Therefore, patients with the above mentioned clinical, environmental, and parasite factors could benefit from using prophylactic therapy.


Assuntos
Toxoplasmose Ocular , Baixa Visão , Humanos , Toxoplasmose Ocular/complicações , Toxoplasmose Ocular/epidemiologia , Toxoplasmose Ocular/tratamento farmacológico , Recidiva Local de Neoplasia , Cegueira/complicações , Baixa Visão/complicações , Fatores de Risco , Recidiva
3.
Eur J Investig Health Psychol Educ ; 12(1): 61-76, 2022 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-35049535

RESUMO

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that negatively affects the inattention, disorganization, and/or hyperactivity-impulsivity in children and adolescents who suffer from it, included cases being reported that continue into adulthood. This disorder impairs social, academic, emotional, psychological, and health system functioning due to its high cost of treatment. The present systematic review aims to analyze the effects of physical activity, exercise, and sports on the executive function in children and adolescents diagnosed with ADHD through the scientific literature. The results show that the practice of physical activity, exercise, or sport produces improvements in executive function in children and adolescents diagnosed with ADHD, mainly through aerobic exercise. A 20 min session of physical activity, sport, or exercise leads to improvements in executive functions in children and adolescents with ADHD. It can be concluded that the practice of physical activity, exercise, and sport generate improvements on executive functions in children and adolescents with ADHD, mainly through aerobic exercise.

4.
Artigo em Inglês | MEDLINE | ID: mdl-36612526

RESUMO

Cyberbullying prevalence is increasing in the world, being a form of abuse that follows victims into their most intimate settings. Cyberbullying affects victims' mental health, self-esteem, emotions, and academic performance. Cyberbullies present low levels of self-control and empathy. This research aimed to map scientific research on Cyberbullying and the Psychological Dimensions of the Self. A bibliometric analysis of scientific documents published in journals indexed in the Web of Science (WoS) was performed. Traditional bibliometric laws were applied and VOSviewer was used to generate visualizations. The annual publications followed exponential growth. Computers in Human Behaviour was the journal with the most publications. Researchers from the USA and Spain were the most prolific. Sameer Hinduja and Justin Patchin were the most cited authors. Hence, there is a growing interest among researchers in Cyberbullying and the emotional aspects of children and adolescents. The USA and Spain were the leading countries in research on this subject. Rosario Ortega-Ruiz, Sameer Hinduja and Justin Patchin were the most prolific and influential authors.


Assuntos
Bullying , Vítimas de Crime , Cyberbullying , Adolescente , Humanos , Criança , Cyberbullying/psicologia , Emoções , Empatia , Autoimagem , Bibliometria , Vítimas de Crime/psicologia
5.
Artigo em Inglês | MEDLINE | ID: mdl-34705650

RESUMO

Current medical care lacks an effective functional evaluation for the spinal cord. Magnetic resonance imaging and computed tomography mainly provide structural information of the spinal cord, while spinal somatosensory evoked potentials are limited by a low signal to noise ratio. We developed a non-invasive approach based on near-infrared spectroscopy in dual-wavelength (760 and 850 nm for deoxy- or oxyhemoglobin respectively) to record the neurovascular response (NVR) of the peri-spinal vascular network at the 7th cervical and 10th thoracic vertebral levels of the spinal cord, triggered by unilateral median nerve electrical stimulation (square pulse, 5-10 mA, 5 ms, 1 pulse every 4 minutes) at the wrist. Amplitude, rise-time, and duration of NVR were characterized in 20 healthy participants. A single, painless stimulus was able to elicit a high signal-to-noise ratio and multi-segmental NVR (mainly from Oxyhemoglobin) with a fast rise time of 6.18 [4.4-10.4] seconds (median [Percentile 25-75]) followed by a slow decay phase for about 30 seconds toward the baseline. Cervical NVR was earlier and larger than thoracic and no left/right asymmetry was detected. Stimulus intensity/NVR amplitude fitted to a 2nd order function. The characterization and feasibility of the peri-spinal NVR strongly support the potential clinical applications for a functional assessment of spinal cord lesions.


Assuntos
Espectroscopia de Luz Próxima ao Infravermelho , Doenças da Medula Espinal , Potenciais Somatossensoriais Evocados , Humanos , Nervo Mediano , Medula Espinal
6.
Rev. habanera cienc. méd ; 20(5): e3714, 2021. tab
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1352084

RESUMO

Introducción: El Trastorno por déficit de atención y/o hiperactividad (TDAH) es un trastorno del neurodesarrollo que afecta la calidad de vida en niños y adolescentes, y se extiende hasta la edad adulta. La literatura señala que la práctica de actividad física y ejercicio físico establece beneficios positivos para el organismo del ser humano, a nivel físico, biológico y psicológico. Objetivo: Examinar los efectos de las intervenciones de actividad física o ejercicio físico sobre la calidad de vida en niños y adolescentes diagnosticados con TDAH. Material y Método: La búsqueda de las investigaciones fueron realizadas a través de Google Scholar, Scopus, Pubmed, Scielo, Web of Science, Dialnet y Redalyc, seleccionando solo investigaciones de libre acceso en idioma español. Se consideraron los últimos 5 años para el análisis de las investigaciones, se buscaron mediante las palabras utilizadas Actividad Física y Calidad de vida en niños y adolescentes con trastorno por déficit de atención e hiperactividad, Ejercicio Físico y Calidad de vida en niños y adolescentes con trastorno por déficit de atención e hiperactividad, Actividad Física y Calidad de vida en niños y adolescentes con TDAH, Ejercicio Físico y Calidad de vida en niños y adolescentes con TDAH. Desarrollo: Los 8 artículos seleccionados y extraídos de las bases de datos, concuerdan con los criterios de inclusión relacionados con los beneficios en la calidad de vida físicos, a nivel psicológicos, biológicos y sociales. Conclusiones: Intervenciones de actividad física y ejercicio físico con una duración de 15 min a 90 min en niños y adolescentes con TDAH pueden ser beneficiosas en la calidad de vida(AU)


Introduction: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects quality of life in children and adolescents, extending into adulthood. The literature indicates that the practice of physical activity and physical exercise establishes positive benefits for the human body at a physical, biological and psychological level. Objective: To examine the effects of physical activity or physical exercise interventions on quality of life in children and adolescents diagnosed with ADHD. Material and Methods: The search for research was carried out through Google Scholar, Scopus, Pubmed, Scielo, Web of Science, Dialnet and Redalyc, selecting only open access research in Spanish. The last 5 years were considered for the analysis of the research; they were searched using the words: Physical Activity and Quality of life in children and adolescents with attention deficit and hyperactivity disorder, Physical Exercise and Quality of life in children and adolescents with attention deficit disorder with hyperactivity, Physical Activity and Quality of life in children and adolescents with ADHD, Physical Exercise and Quality of life in children and adolescents with ADHD. Development: The 8 articles selected and extracted from the databases agree with the inclusion criteria related to the physical, psychological, biological and social benefits on quality of life. Conclusions: Physical activity and physical exercise interventions with a duration of 15-90 minutes in children and adolescents with ADHD can be beneficial on quality of life(AU)


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Exercício Físico/psicologia , Corpo Humano , Transtornos do Neurodesenvolvimento
7.
Eye Contact Lens ; 47(10): 533-538, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33900214

RESUMO

PURPOSE: To compare three automated devices for measuring the horizontal corneal diameter (white to white [WTW]). METHODS: In 65 eyes of 38 patients, the WTW distance was measured independently by three examiners using the following techniques: Orbscan IIz tomography system (Bausch & Lomb), IOLMaster 700 (Carl Zeiss Meditec), and OPD Scan III (NIDEK). We tested for systematic differences in measurements and estimated the limits of agreement (LoA) using linear mixed-effects models. RESULTS: The mean WTW distance was 11.8±0.40 mm with Orbscan IIz, 12.1±0.5 mm with IOLMaster 700 and 12.0±0.4 mm with OPD Scan III. The mean difference between IOLMaster 700 and Orbscan IIz was 0.33 (95% CI, 0.28 to 0.38; P<0.001), between OPD Scan III and Orbscan IIz was 0.24 mm (95% CI, 0.21 to 0.28; P<0.001), and between IOL Master 700 and OPD Scan III was 0.09 (95% CI, 0.05 to 0.12; P<0.001). The 95% LoA for Orbscan IIz versus IOLMaster 700 was -0.69 to 0.03 mm, Orbscan IIz versus OPD Scan III was -0.52 to -0.03 mm, and OPD versus IOLMaster 700 was -0.39 to 0.22 mm. CONCLUSIONS: The data suggest that these devices are not interchangeable for usual clinical practice. Adjustments based on mean differences were not enough to compensate for interinstrument discrepancy in WTW measurements.


Assuntos
Olho , Tomografia Computadorizada por Raios X , Córnea/diagnóstico por imagem , Topografia da Córnea , Humanos , Modelos Lineares , Reprodutibilidade dos Testes
8.
Int Ophthalmol ; 41(7): 2347-2358, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33745034

RESUMO

PURPOSE: To evaluate the safety and efficacy of the surgical use of autologous plasma rich in growth factors fibrin membrane (mPRGF) in improving corneal wound healing and regeneration in a variety of complex ocular surface defects. METHODS: Chart review on 15 eyes of 14 included patients undergoing ocular surface intervention using intraoperative mPRGF at the Bascom Palmer Eye Institute and at the Instituto Oftalmológico Fernández-Vega was performed. Patients were grouped based on type of intervention or condition (penetrating keratoplasty, superficial keratectomy, neurotrophic or persistent corneal ulcers, and corneal perforation). Patients were followed for an average of 11 ± 5 months. Main outcomes measured were mPRGF dissolving time, best-corrected visual acuity, and evidence of any persistent epithelial defects, rejections, or complications. RESULTS: All 15 eyes underwent successful placement of mPRGF. Average dissolving time for fibrin membrane was 21 ± 3 days. mPRGF resulted in total healing of the corneal defects in 13/15 (86.7%) of the treated eyes and partial healing in 2/15 (13.3%) eyes in which persistent epithelial defects were noted on follow-up. Visual acuity improvement was seen in 9/15 (60%) of the cases. CONCLUSION: The use of autologous mPRGF in the healing and regeneration of the ocular surface is a secure and efficacious surgical option. Our data demonstrate that PRGF fibrin membrane should be contemplated as an important tool to optimize ocular surface regeneration in complex cases.


Assuntos
Doenças da Córnea , Úlcera da Córnea , Oftalmopatias , Doenças da Córnea/cirurgia , Fibrina , Humanos , Peptídeos e Proteínas de Sinalização Intercelular , Cicatrização
9.
Vaccine ; 39(6): 1007-1017, 2021 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-33446386

RESUMO

DNA vaccines are capable of inducing humoral and cellular immunity, and are important to control bovine herpesvirus 1 (BoHV-1), an agent of the bovine respiratory disease complex. In previous work, a DNA plasmid that encodes a secreted form of BoHV-1 glycoprotein D (pCIgD) together with commercial adjuvants provided partial protection against viral challenge of bovines. In this work, we evaluate new molecules that could potentiate the DNA vaccine. We show that a plasmid encoding a soluble CD40 ligand (CD40L) and the adjuvant Montanide™ GEL01 (GEL01) activate in vitro bovine afferent lymph dendritic cells (ALDCs). CD40L is a co-stimulating molecule, expressed transiently on activated CD4+ T cells and, to a lesser extent, on activated B cells and platelets. The interaction with its receptor, CD40, exerts effects on the presenting cells, triggering responses in the immune system. GEL01 was designed to improve transfection of DNA vaccines. We vaccinated cattle with: pCIgD; pCIgD-GEL01; pCIgD with GEL01 and CD40L plasmid (named pCIgD-CD40L-GEL01) or with pCIneo vaccines. The results show that CD40L plasmid with GEL01 improved the pCIgD DNA vaccine, increasing anti-BoHV-1 total IgGs, IgG1, IgG2 subclasses, and neutralizing antibodies in serum. After viral challenge, bovines vaccinated with pCIgD-GEL01-CD40L showed a significant decrease in viral excretion and clinical score. On the other hand, 80% of animals in group pCIgD-GEL01-CD40L presented specific anti-BoHV-1 IgG1 antibodies in nasal swabs. In addition, PBMCs from pCIgD-CD40L-GEL01 had the highest percentage of animals with a positive lymphoproliferative response against the virus and significant differences in the secretion of IFNγ and IL-4 by mononuclear cells, indicating the stimulation of the cellular immune response. Overall, the results demonstrate that a plasmid expressing CD40L associated with the adjuvant GEL01 improves the efficacy of a DNA vaccine against BoHV-1.


Assuntos
Adjuvantes Imunológicos , Infecções por Herpesviridae/veterinária , Herpesvirus Bovino 1 , Imunogenicidade da Vacina , Vacinas de DNA , Vacinas Virais/imunologia , Animais , Anticorpos Antivirais , Ligante de CD40/genética , Bovinos , Infecções por Herpesviridae/prevenção & controle , Herpesvirus Bovino 1/genética , Manitol/análogos & derivados , Plasmídeos/genética , Vacinas de DNA/genética
10.
Transbound Emerg Dis ; 68(2): 587-597, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32643286

RESUMO

New technologies in the field of vaccinology arise as a necessity for the treatment and control of many diseases. Whole virus inactivated vaccines and modified live virus ones used against Bovine Herpesvirus-1 (BoHV-1) infection have several disadvantages. Previous works on DNA vaccines against BoHV-1 have demonstrated the capability to induce humoral and cellular immune responses. Nevertheless, 'naked' DNA induces low immunogenic response. Thus, loading of antigen encoding DNA sequences in liposomal formulations targeting dendritic cell receptors could be a promising strategy to better activate these antigen-presenting cells (APC). In this work, a DNA-based vaccine encoding the truncated version of BoHV-1 glycoprotein D (pCIgD) was evaluated alone and encapsulated in a liposomal formulation containing LPS and decorated with MANα1-2MAN-PEG-DOPE (pCIgD-Man-L). The vaccinations were performed in mice and bovines. The results showed that the use of pCIgD-Man-L enhanced the immune response in both animal models. For humoral immunity, significant differences were achieved when total antibody titres and isotypes were assayed in sera. Regarding cellular immunity, a significant increase in the proliferative response against BoHV-1 was detected in animals vaccinated with pCIgD-Man-L when compared to the response induced in animals vaccinated with pCIgD. In addition, upregulation of CD40 molecules on the surface of bovine dendritic cells (DCs) was observed when cells were stimulated and activated with the vaccine formulations. When viral challenge was performed, bovines vaccinated with MANα1-2MAN-PEG-DOPE elicited better protection which was evidenced by a lower viral excretion. These results demonstrate that the dendritic cell targeting using MANα1-2MAN decorated liposomes can boost the immunogenicity resulting in a long-lasting immunity. Liposomes decorated with MANα1-2MAN-PEG-DOPE were tested for the first time as a DNA vaccine nanovehicle in cattle as a preventive treatment against BoHV-1. These results open new perspectives for the design of vaccines for the control of bovine rhinotracheitis.


Assuntos
Doenças dos Bovinos/prevenção & controle , Infecções por Herpesviridae/veterinária , Herpesvirus Bovino 1/imunologia , Vacinas contra Herpesvirus/administração & dosagem , Vacinação/veterinária , Animais , Bovinos , Infecções por Herpesviridae/prevenção & controle , Masculino , Camundongos , Vacinas de DNA/administração & dosagem
11.
Comp Immunol Microbiol Infect Dis ; 73: 101555, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33032190

RESUMO

Leptospirosis is a disease with major economic impact on livestock industry. The objective of this work was to determine the presence of Leptospira spp. DNA by qPCR in bovine fetuses with presumptive diagnosis of leptospirosis as the cause of abortion. Leptospira spp. DNA was detected by qPCR in 11 out of 34 fetuses. These specimens (10/11) had histopathological findings in hepatic and/or renal tissues compatible with leptospirosis. qPCR detection rate (32.4 %) was higher compared with direct immuno-fluorescence antibody test (DFAT) (11.8 %). The concordance coefficient between both techniques was 0.44. qPCR is a rapid and sensitive technique for the diagnosis of leptospirosis and improved the detection rate in fetal tissues compared with DFAT. Implementation of molecular techniques may increase the accurate detection of leptospirosis as a cause of bovine abortion allowing the application of rapid therapeutic and prophylactics measures in order to reduce the impact of this zoonotic disease.


Assuntos
Feto Abortado/microbiologia , Aborto Animal/microbiologia , Doenças dos Bovinos/diagnóstico , Leptospira/isolamento & purificação , Leptospirose/veterinária , Aborto Animal/diagnóstico , Testes de Aglutinação/veterinária , Animais , Bovinos , Doenças dos Bovinos/microbiologia , DNA Bacteriano/isolamento & purificação , Feminino , Técnica Direta de Fluorescência para Anticorpo/veterinária , Leptospira/genética , Leptospirose/diagnóstico , Leptospirose/microbiologia , Gravidez , Reação em Cadeia da Polimerase em Tempo Real/veterinária , Estudos Retrospectivos
12.
Rev. med. vet. (Bogota) ; (40): 85-90, ene.-jun. 2020. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1139287

RESUMO

Resumen Las infecciones nosocomiales (IN) son definidas como aquellas infecciones que se presentan 48 a 72 horas después del ingreso a un hospital en Chile, causadas por bacterias con altos niveles de resistencia antibiótica. En Chile existen muy pocos estudios en medicina veterinaria, y se utilizan muchas veces los parámetros humanos. Por esto, la investigación tuvo como objetivo identificar y evaluar la sensibilidad antibiótica de la microbiota bacteriana, potencialmente causal de IN. Se realizó un estudio de corte transversal a 20 objetos en una clínica veterinaria durante el mes de junio del año 2012. Se evidenció desarrollo bacteriano en el 85 % de los elementos muestreados. Se logró aislar cepas de Staphylococcus epidermidis (50 %), Acinetobacter spp. (15 %), Enterococcus faecalis (15 %), Escherichia coli (10 %), Proteus mirabilis (5 %) y Bacillus subtilis (5 %). Se logró identificar especies bacterianas, con potencial para generar infecciones nosocomiales, con un grado medio de resistencia antimicrobiana.


Abstract Nosocomial infections (NI) are defined as those occurring within 48-72 hours after being admitted in a hospital, and caused by bacteria with high antibiotic resistance levels. In Chile there are very few studies in veterinary medicine on this issue and most of the times human parameters are used instead. Therefore, this research aimed to identify and evaluate the antibiotic sensitiveness of the bacterial microbiota potentially causing NI. A cross-sectional study was conducted using 20 objects from a veterinary clinic during June 2012. Bacterial growth was observed in 85% of the sampled objects. The isolated strains include Staphylococcus epidermidis (50%), Acinetobacter spp. (15%), Enterococcus faecalis (15%), Escherichia coli (10%), Proteus mirabilis (5%), and Bacillus subtilis (5%). Bacteria species were identified with a potential to cause nosocomial infections of medium-grade antimicrobial resistance.

13.
Endocrine ; 67(1): 258-263, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31571129

RESUMO

PURPOSE: 21-hydroxylase deficiency (21-OHD) is a congenital adrenal disease with more than 200 mutations published to date. The aim of this report is to describe a severe novel mutation of the CYP21A2 gene. METHOD: We describe a case of a 39-year-old male diagnosed with a salt wasting congenital adrenal hyperplasia (SWCAH) due to 21-OHD. The genetic testing was done using a combination of three methods (PCR XL, SALSA-MLPA, and bidirectional sequencing) and finally an in silico analysis. RESULTS: The genetic testing demonstrated three severe mutations of the CYP21A2 gene (p.Gln318*; c.290-13C>G; and p.Trp86*), being the last one a novel mutation not previously reported. The in silico modeling of the p.Trp86* (c.258G>A) showed a truncated CYP21A2 protein that loses all the main structural features required for activity, such as the HEM binding domain and the hormone binding site. CONCLUSION: We present an adult man with an SWCAH due to 21-OHD who carried three severe mutations of the CYP21A2 gene, one of them, p.Trp86* (c.258G>A) has not been previously described.


Assuntos
Hiperplasia Suprarrenal Congênita , Hiperplasia Suprarrenal Congênita/genética , Adulto , Testes Genéticos , Genótipo , Humanos , Masculino , Mutação , Reação em Cadeia da Polimerase , Esteroide 21-Hidroxilase/genética
14.
Rev Med Chil ; 147(7): 852-859, 2019 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-31859983

RESUMO

BACKGROUND: Classification of growth hormone (GH) - secreting tumors by the granular pattern might predict their clinical behavior in acromegalic patients. There are several other prognostic factors. AIM: To compare the features at presentation and cure rates of patients with GH secreting tumors according to the granular pattern, and to define independent prognostic factors for surgical treatment in these patients. MATERIAL AND METHODS: A retrospective, observational study of 85 active acromegalic patients surgically treated in two medical centers. RESULTS: Seventy-four patients (87%) were classified as having densely granulated (DG) and 11 (13%) as sparsely granulated (SG) tumors. The latter were less active biochemically, had a higher rate of macroadenoma and cavernous sinus invasion and had a lower rate of biochemical cure than the DG group. Several characteristics were associated with disease persistence but only age (Odds ratio (OR) = 0.93) and cavernous sinus invasion (OR = 21.7) were independently associated in the logistic regression model. CONCLUSIONS: The sparsely granulated pattern is associated with a more aggressive behavior, but the main determinants of prognosis are age and cavernous sinus invasion.


Assuntos
Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Adulto , Feminino , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico por imagem , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos
15.
Virus Res ; 271: 197678, 2019 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-31381943

RESUMO

Bovine leukemia virus (BLV) is a retrovirus that infects cattle and is associated with an increase in secondary infections. The objective of this study was to analyze the effect of BLV infection on cell viability, apoptosis and morphology of a bovine mammary epithelial cell line (MAC-T), as well as Toll like receptors (TLR) and cytokine mRNA expression. Our findings show that BLV infection causes late syncytium formation, a decrease in cell viability, downregulation of the anti-apoptotic gene Bcl-2, and an increase in TLR9 mRNA expression. Moreover, we analyzed how this stably infected cell line respond to the exposure to Staphylococcus aureus (S. aureus), a pathogen known to cause chronic mastitis. In the presence of S. aureus, MAC-T BLV cells had decreased viability and decreased Bcl-2 and TLR2 mRNA expression. The results suggest that mammary epithelial cells infected with BLV have altered the apoptotic and immune pathways, probably affecting their response to bacteria and favoring the development of mastitis.


Assuntos
Células Epiteliais/virologia , Interações Hospedeiro-Patógeno , Vírus da Leucemia Bovina/fisiologia , Animais , Apoptose/genética , Biomarcadores , Bovinos , Linhagem Celular , Proliferação de Células , Sobrevivência Celular , Citocinas/metabolismo , Efeito Citopatogênico Viral , Leucose Enzoótica Bovina/metabolismo , Leucose Enzoótica Bovina/virologia , Células Epiteliais/metabolismo , Feminino , Glândulas Mamárias Animais/metabolismo , Glândulas Mamárias Animais/virologia , Mastite Bovina/metabolismo , Mastite Bovina/virologia , Receptores Toll-Like/metabolismo
16.
Rev. méd. Chile ; 147(7): 852-859, jul. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1058614

RESUMO

Background: Classification of growth hormone (GH) - secreting tumors by the granular pattern might predict their clinical behavior in acromegalic patients. There are several other prognostic factors. Aim: To compare the features at presentation and cure rates of patients with GH secreting tumors according to the granular pattern, and to define independent prognostic factors for surgical treatment in these patients. Material and Methods: A retrospective, observational study of 85 active acromegalic patients surgically treated in two medical centers. Results: Seventy-four patients (87%) were classified as having densely granulated (DG) and 11 (13%) as sparsely granulated (SG) tumors. The latter were less active biochemically, had a higher rate of macroadenoma and cavernous sinus invasion and had a lower rate of biochemical cure than the DG group. Several characteristics were associated with disease persistence but only age (Odds ratio (OR) = 0.93) and cavernous sinus invasion (OR = 21.7) were independently associated in the logistic regression model. Conclusions: The sparsely granulated pattern is associated with a more aggressive behavior, but the main determinants of prognosis are age and cavernous sinus invasion.


Assuntos
Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Prognóstico , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico por imagem
17.
Clin Exp Ophthalmol ; 47(2): 201-211, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30136340

RESUMO

IMPORTANCE: There is a paucity of evidence analysing the treatment of cyclodialysis clefts. BACKGROUND: We describe outcomes following the treatment of this rare condition at six centres internationally. DESIGN: Retrospective case series. PARTICIPANTS: Thirty-six patients with a cyclodialysis cleft from 2003 to 2017 were recruited. METHODS: Clefts were treated with cycloplegic agents, laser therapy and/or surgery. MAIN OUTCOME MEASURES: Postoperative best recorded visual acuity (BRVA), intraocular pressure (IOP) and the rate of cleft closure. RESULTS: The mean age was 45 ± 17 years and 29 (80.6%) patients were male. One eye (2.8%) received only medical therapy, 5 (13.9%) received laser, 14 (38.9%) underwent surgery after laser failure and 16 (44.4%) eyes received exclusively surgery. Over 80% of eyes had a BRVA improvement of more than two lines. Closure was attained in 30 eyes (93.8%; n = 32), with postoperative stabilized IOP ≥ 12 mmHg in 29 eyes (80.6%; n = 36) and postoperative BRVA ≤20/50 in 20 eyes (58.8%; n = 34). Improved postoperative BRVA was related to better preoperative BRVA (P = 0.006) and preoperative IOP ≥ 4 mmHg (P = 0.03). There was no significant difference between treatment approach for IOP ≥ 12 mmHg (P = 0.85) or postoperative BRVA ≤20/50 (P = 0.80). Only two eyes at last follow-up required IOP lowering medication. CONCLUSIONS AND RELEVANCE: There was a high closure rate with most eyes eventually requiring surgery. Clinically significant improvements in BRVA were found in most eyes. Improved postoperative BRVA was significantly related to better preoperative BRVA and IOP.


Assuntos
Fendas de Ciclodiálise/cirurgia , Adolescente , Adulto , Fendas de Ciclodiálise/diagnóstico , Fendas de Ciclodiálise/fisiopatologia , Feminino , Seguimentos , Gonioscopia , Humanos , Pressão Intraocular/fisiologia , Terapia a Laser , Masculino , Pessoa de Meia-Idade , Midriáticos/uso terapêutico , Procedimentos Cirúrgicos Oftalmológicos , Estudos Retrospectivos , Acuidade Visual/fisiologia
19.
Arq Bras Oftalmol ; 80(1): 25-29, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28380098

RESUMO

PURPOSE:: The aim of this study was to introduce a reproducible algorithm for the surgical management of late-onset (>2 months) bleb complications after trabeculectomy with mitomycin C. METHODS:: We performed a retrospective review of eyes treated using a reproducible algorithm approach by a single surgeon for the surgical management of late-onset bleb complications from July 2006 to April 2014. Exclusion criteria were bleb revision with less than 3 months of follow-up or bleb revision combined with other glaucoma procedures at the time of surgery. Success was evaluated using the Kaplan-Meier survival method and defined as achieving all of the following criteria: primary surgery indication resolved, no additional surgery required for decreasing the intraocular pressure (IOP), and IOP of ≥6 mmHg and ≤18 mmHg. RESULTS:: Twenty-three eyes from 20 patients were evaluated. Indications for bleb revision were hypotonic maculopathy (47.8%), bleb leak (30.4%), and dysesthetic bleb (21.7%). The overall primary outcome success rate calculated using the Kaplan-Meier survival method was 65.2% at 48 months. When the IOP target was changed to ≤15 mmHg, the bleb survival rate was 47.8% at 48 months. At the most recent postoperative visit, 95.7% of eyes had an IOP of ≤15 mmHg and 56.5% were being treated with an average of one medication per eye. One eye (4.3%) required a second bleb revision for persistent hypotony and two eyes required glaucoma surgery to reduce IOP during follow-up. CONCLUSIONS:: An algorithm approach for the surgical management of late-onset bleb complications with a success rate similar to those reported in specialized literature is proposed. Randomized trials are needed to confirm the best surgical approach.


Assuntos
Algoritmos , Vesícula/cirurgia , Glaucoma/cirurgia , Complicações Pós-Operatórias/cirurgia , Reoperação , Trabeculectomia/efeitos adversos , Vesícula/etiologia , Reagentes de Ligações Cruzadas/uso terapêutico , Feminino , Seguimentos , Humanos , Pressão Intraocular , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Mitomicina/uso terapêutico , Hipotensão Ocular/etiologia , Hipotensão Ocular/cirurgia , Complicações Pós-Operatórias/tratamento farmacológico , Estudos Retrospectivos
20.
Cornea ; 36(6): 679-683, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28368991

RESUMO

PURPOSE: To evaluate the ocular surface parameters that could predict patient satisfaction after single application of vectored thermal pulsation (VTP). METHODS: This is a retrospective interventional case series; it included consecutive patients who underwent bilateral VTP for management of symptomatic meibomian gland dysfunction (MGD). Patients received a full ocular surface evaluation. The outcome was patient subjective improvement during the first 3-4 months after 3 follow-up visits. For analysis, patients were divided into responders and nonresponders. RESULTS: Forty-nine patients received bilateral treatment, with 32 patients (65.3%) reporting subjective improvement after treatment. Responders had lower tear production (6.9 ± 5.9 mm vs. 13.6 ± 6.8 mm; t test P = 0.002), a higher corneal staining score (4.4 ± 5.0 vs. 0.43 ± 1.1; t test P = 0.003), and a higher conjunctival staining score (3.1 ± 2.4 vs. 1.5 ± 1.8; t test P = 0.023) and presented with a higher tear osmolarity (319.7 ± 23.22 mOsm/L vs. 306.9 ± 9.0 mOsm/L; t test P = 0.029) than the nonresponder group. We found no association between patient age, tear breakup time, Ocular Surface Disease Index score, tear lipid layer thickness, or MGD grading score, as measured before intervention, with patient-perceived success of treatment. No complications to treatment were noted, and no patient reported worsening of preexisting symptoms on follow-up. CONCLUSIONS: VTP can be effective in treating dry eye symptoms of patients with MGD. Our data show that objective findings of dry eye, as evidenced by lower tear production, higher corneal and conjunctival staining scores, and higher osmolarity, tend to be markers present in the group of patients responding positively to VTP.


Assuntos
Síndromes do Olho Seco/terapia , Doenças Palpebrais/terapia , Hipertermia Induzida/métodos , Glândulas Tarsais , Satisfação do Paciente , Síndromes do Olho Seco/fisiopatologia , Doenças Palpebrais/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Concentração Osmolar , Estudos Retrospectivos , Propriedades de Superfície , Lágrimas/fisiologia
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