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2.
Medwave ; 24(3): e2792, 2024 04 08.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38588532

RESUMO

Introduction: Osteochondroplastic tracheobronchopathy is a rare benign chronic disease of unknown etiology. Bronchoscopy remains the gold standard for diagnosing osteochondroplastic tracheobronchopathy. Its typical findings are described as a cobblestone, rock garden, mountainscape, or stalactite cave appearance. The present work aims to show the main clinical features of this rare pathology. Clinical cases: The clinical data of four middle-aged patients, three men and one woman, were analyzed. The main clinical symptoms were chronic cough, dyspnea, and dysphonia. The patient's preliminary diagnosis was made by computed axial tomography of the chest, confirmed by bronchoscopy and histopathological examination. Treatment included medication for symptoms and, in one case, cryosurgery and argon plasma coagulation. Discussion: Diagnosing osteochondroplastic tracheobronchopathy was not easy, given its uncommon nature and non-specific symptoms often found in other pathologies. No case series articles on this pathology have been published in Peru. Therefore, we used the original articles published in other countries to reference our findings. Conclusion: Osteochondroplastic tracheopathy is a benign disease that typically affects adults. Men are more likely to be affected. Its clinical manifestations are non-specific and frequently of pharyngeal origin, and the cause is not yet defined. Chest computed axial tomography combined with bronchoscopy are the main diagnostic procedures. There is no standard treatment with consistent therapeutic effects.


Introducción: La traqueobroncopatía osteocondroplástica es una rara enfermedad crónica benigna de etiología desconocida. La broncoscopía sigue siendo el estándar de oro para el reconocimiento de traqueopatía osteocondroplástica. Sus hallazgos típicos se describen como un empedrado, un jardín de rocas, una apariencia de paisaje montañoso o de una cueva con estalactitas. El objetivo del presente trabajo es mostrar las principales características clínicas de una patología poco conocida. Casos clínicos: Se analizaron los datos clínicos de cuatro pacientes de mediana edad, tres fueron hombres y una mujer. Los principales síntomas clínicos fueron tos crónica, disnea, disfonía. Los pacientes tuvieron un diagnóstico preliminar mediante tomografía axial computarizada de tórax, confirmado por examen video broncoscópico e histopatológico. El tratamiento incluyó medicamentos para los síntomas y en un solo caso criocirugía y coagulación con argón plasma. Discusión: El diagnóstico de traqueobroncopatía osteocondroplástica no fue sencillo por ser una entidad rara, cuyos síntomas son inespecíficos y muy frecuentes en otras patologías. En Perú no se han publicado artículos de serie de casos sobre esta patología. Por lo tanto, tomamos como referencia artículos originales publicados en otros países para compararlos con nuestros hallazgos. Conclusión: La traqueopatía osteocondroplástica es una enfermedad benigna que predispone a los adultos, los hombres tienen más probabilidades de verse afectados. Sus manifestaciones clínicas son inespecíficas; frecuentemente de origen faríngeo y la causa no está aún definida. La tomografía axial computarizada de tórax combinada con video broncoscopía son los principales procedimientos para el diagnóstico. No existe un estándar de tratamiento con efectos terapéuticos consistentes.


Assuntos
Broncopatias , Osteocondrodisplasias , Doenças da Traqueia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Broncopatias/diagnóstico , Broncopatias/patologia , Broncoscopia , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/patologia , Tomografia Computadorizada por Raios X , Doenças da Traqueia/diagnóstico , Doenças da Traqueia/terapia , Doenças da Traqueia/patologia
4.
EClinicalMedicine ; 67: 102333, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38169703

RESUMO

Background: In solid organ transplantation, HLA matching between donor and recipient is associated with superior outcomes. In islet transplantation, an intervention for Type 1 diabetes, HLA matching between donor and recipient is not performed as part of allocation. Susceptibility to Type 1 diabetes is associated with the presence of certain HLA types. This study was conducted to determine the impact of these susceptibility antigens on islet allograft survival. Methods: This is a single-centre retrospective cohort study. This cohort of transplant recipients (n = 268) received islets from 661 donor pancreases between March 11th, 1999 and August 29th, 2018 at the University of Alberta Hospital (Edmonton, AB, Canada). The frequency of the Type 1 diabetes susceptibility HLA antigens (HLA-A24, -B39, -DQ8, -DQ2 and-DQ2-DQA1∗05) in recipients and donors were determined. Recipient and donor HLA antigens were examined in relation to time to first C-peptide negative status/graft failure or last observation point. Taking into account multiple transplants per patient, we fitted a Gaussian frailty survival analysis model with baseline hazard function stratified by transplant number, adjusted for cumulative islet dose and other confounders. Findings: Across all transplants recipients of donors positive for HLA-DQ8 had significantly better graft survival (adjusted HRs 0.33 95% CI 0.17-0.66; p = 0.002). At first transplant only, donors positive for HLA-DQ2-DQA1∗05 had inferior graft survival (adjusted HR 1.96 95% CI 1.10-3.46); p = 0.02), although this was not significant in the frailty analysis taking multiple transplants into account (adjusted HR 1.46 95% CI 0.77-2.78; p = 0.25). Other HLA antigens were not associated with graft survival after adjustment for confounders. Interpretation: Our findings suggest islet transplantation from HLA-DQ8 donors is associated with superior graft outcomes. A donor positive for HLA-DQ2-DQA1∗05 at first transplant was associated with inferior graft survival but not when taking into account multiple transplants per recipient. The relevance of HLA-antigens on organ allocation needs further evaluation and inclusion in islet transplant registries and additional observational and interventional studies to evaluate the role of HLA-DQ8 in islet graft survival are required. Funding: None.

5.
Expert Rev Endocrinol Metab ; : 1-8, 2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38258451

RESUMO

INTRODUCTION: Adverse reactions to tuberculosis treatment can impact patient adherence and prognosis. Hypothyroidism is a frequent adverse reaction caused using ethionamide, prothionamide, and para-aminosalicylic acid and is often underdiagnosed. AREAS COVERED: We searched Scielo, Scopus, and EMBASE databases, including 67 articles. Antitubercular drug-induced hypothyroidism has a prevalence of 17%. It occurs after 2 to 3 months of treatment and resolves within 4 to 6 weeks after discontinuation. It is postulated to result from the inhibition of thyroperoxidase function, blocking thyroid hormone synthesis. Symptoms are nonspecific, necessitating individualized thyroid-stimulating hormone measurement for detection. Specific guidelines for management are lacking, but initiation of treatment with levothyroxine, as is customary for primary hypothyroidism, is recommended. Discontinuation of antitubercular drugs is discouraged, as it may lead to unfavorable consequences. EXPERT OPINION: Antitubercular drug-induced hypothyroidism is more common than previously thought, affecting one in six MDR-TB patients. Despite diagnostic and treatment recommendations, implementation is hindered in low-income countries due to the lack of certified laboratories. New drugs for tuberculosis treatment may affect thyroid function, requiring vigilant monitoring for complications, including hypothyroidism.

6.
Am J Transplant ; 24(3): 338-349, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38032300

RESUMO

The XVI-th Banff Meeting for Allograft Pathology was held at Banff, Alberta, Canada, from 19th to 23rd September 2022, as a joint meeting with the Canadian Society of Transplantation. To mark the 30th anniversary of the first Banff Classification, premeeting discussions were held on the past, present, and future of the Banff Classification. This report is a summary of the meeting highlights that were most important in terms of their effect on the Classification, including discussions around microvascular inflammation and biopsy-based transcript analysis for diagnosis. In a postmeeting survey, agreement was reached on the delineation of the following phenotypes: (1) "Probable antibody-mediated rejection (AMR)," which represents donor-specific antibodies (DSA)-positive cases with some histologic features of AMR but below current thresholds for a definitive AMR diagnosis; and (2) "Microvascular inflammation, DSA-negative and C4d-negative," a phenotype of unclear cause requiring further study, which represents cases with microvascular inflammation not explained by DSA. Although biopsy-based transcript diagnostics are considered promising and remain an integral part of the Banff Classification (limited to diagnosis of AMR), further work needs to be done to agree on the exact classifiers, thresholds, and clinical context of use.


Assuntos
Transplante de Rim , Humanos , Complemento C4b , Canadá , Rim/patologia , Inflamação/patologia , Isoanticorpos , Biópsia
7.
Transplantation ; 107(3): 709-719, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36190186

RESUMO

BACKGROUND: Trifecta (ClinicalTrials.gov #NCT04239703) is a prospective trial defining relationships between donor-derived cell-free DNA (dd-cfDNA), donor-specific antibody (DSA), and molecular findings in kidney transplant biopsies. Previous analyses of double results showed dd-cfDNA was strongly associated with rejection-associated molecules in the biopsy. The present study analyzed the triple results in 280 biopsies, focusing on the question of dd-cfDNA levels in DSA-negative antibody-mediated rejection (AMR). METHODS: Molecular Microscope Diagnostic System biopsy testing was performed at Alberta Transplant Applied Genomics Centre, dd-cfDNA testing at Natera, Inc, and central HLA antibody testing at One Lambda Inc. Local DSA and histologic diagnoses were assigned per center standard-of-care. RESULTS: DSA was frequently negative in both molecular (56%) and histologic (51%) AMR. DSA-negative AMR had slightly less molecular AMR activity and histologic peritubular capillaritis than DSA-positive AMR. However, all AMRs-DSA-positive or -negative-showed elevated %dd-cfDNA. There was no association between dd-cfDNA and DSA in biopsies without rejection. In AMR, %dd-cfDNA ≥1.0 was more frequent (75%) than DSA positivity (44%). In logistic regression, dd-cfDNA percent (area under the curve [AUC] 0.85) or quantity (AUC 0.86) predicted molecular AMR better than DSA (AUC 0.66). However, the best predictions incorporated both dd-cfDNA and DSA, plus time posttransplant (AUC 0.88). CONCLUSIONS: DSA-negative AMR has moderately decreased mean molecular and histologic AMR-associated features compared with DSA-positive AMR, though similarly elevated dd-cfDNA levels. In predicting AMR at the time of indication biopsies in this population, dd-cfDNA is superior to DSA, reflecting the prevalence of DSA-negative AMR, but the optimal predictions incorporated both dd-cfDNA and DSA.


Assuntos
Ácidos Nucleicos Livres , Humanos , Anticorpos , Ácidos Nucleicos Livres/genética , Rejeição de Enxerto , Teste de Histocompatibilidade , Estudos Prospectivos , Doadores de Tecidos
8.
Transplant Direct ; 8(9): e1360, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35935024

RESUMO

There is limited information on the value of short-term invasive and noninvasive monitoring in kidney transplant recipients (KTR) undergoing therapy for chronic active antibody-mediated rejection (cAMR). Methods: We describe response rates in patients with cAMR receiving pulse steroids/IVIG ± rituximab 3-mo after index biopsy. Results: The study included 82 consecutive KTR. Mean time from transplant to cAMR was 10 y. Mean peritubular capillaritis (ptc), glomerulitis (g), microvascular inflammation (MVI), C4d, and cg Banff scores were 1.1, 2.1, 3.2, 0.2, and 2, respectively. Mean estimated glomerular filtration rate (eGFR) and urine protein creatinine (UPC) ratio were 38 mL/min and 1.6 g/g, respectively. Thirty (37%) patients lost their allograft during the mean follow-up of 2.4 y. In patients treated with pulse steroids/IVIG (n = 41), response rates for eGFR, UPC, donor-specific antibodies (DSAs), and MVI were 27%, 49%, 7%, and 19%, respectively. In the pulse steroids/IVIG/rituximab group, response rates were 66%, 61%, 20%, and 69%, respectively. Univariate analysis identified response in eGFR (HR = 0.03; P = 0.001; 95% CI, 0.004-0.26), UPC (HR = 0.38; P = 0.01; 95% CI, 0.18-0.82), and DSA (HR = 0.11; P = 0.004; 95% CI, 0.02-0.49) as predictors of graft survival. Multivariate analysis only retained eGFR response (HR = 0.12; P = 0.01; 95% CI, 0.02-0.64). Conclusions: In cAMR, short-term response to treatment for kidney function and DSA was associated with graft survival, but the role of early surveillance biopsies needs further evaluation.

9.
Am J Transplant ; 22(8): 1976-1991, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35575435

RESUMO

We studied the clinical, histologic, and molecular features distinguishing DSA-negative from DSA-positive molecularly defined antibody-mediated rejection (mABMR). We analyzed mABMR biopsies with available DSA assessments from the INTERCOMEX study: 148 DSA-negative versus 248 DSA-positive, compared with 864 no rejection (excluding TCMR and Mixed). DSA-positivity varied with mABMR stage: early-stage (EABMR) 56%; fully developed (FABMR) 70%; and late-stage (LABMR) 58%. DSA-negative patients with mABMR were usually sensitized, 60% being HLA antibody-positive. Compared with DSA-positive mABMR, DSA-negative mABMR was more often C4d-negative; earlier by 1.5 years (average 2.4 vs. 3.9 years); and had lower ABMR activity and earlier stage in molecular and histology features. However, the top ABMR-associated transcripts were identical in DSA-negative versus DSA-positive mABMR, for example, NK-associated (e.g., KLRD1 and GZMB) and IFNG-inducible (e.g., PLA1A). Genome-wide class comparison between DSA-negative and DSA-positive mABMR showed no significant differences in transcript expression except those related to lower intensity and earlier time of DSA-negative ABMR. Three-year graft loss in DSA-negative mABMR was the same as DSA-positive mABMR, even after adjusting for ABMR stage. Thus, compared with DSA-positive mABMR, DSA-negative mABMR is on average earlier, less active, and more often C4d-negative but has similar graft loss, and genome-wide analysis suggests that it involves the same mechanisms. SUMMARY SENTENCE: In 398 kidney transplant biopsies with molecular antibody-mediated rejection, the 150 DSA-negative cases are earlier, less intense, and mostly C4d-negative, but use identical molecular mechanisms and have the same risk of graft loss as the 248 DSA-positive cases.


Assuntos
Transplante de Rim , Anticorpos , Biópsia , Rejeição de Enxerto/diagnóstico , Rejeição de Enxerto/etiologia , Humanos , Isoanticorpos , Transplante de Rim/efeitos adversos , Doadores de Tecidos
10.
Clin Transplant ; 36(3): e14558, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34923658

RESUMO

INTRODUCTION: Management of immunosuppression in a kidney transplant recipient with a failed allograft is complex; continuation carries infectious and metabolic risks, and discontinuation can lead to sensitization. METHODS: We evaluated risk factors for sensitization in 89 kidney or simultaneous kidney-pancreas recipients, whose kidney transplant failed after January, 2013 and who were subsequently re-evaluated for kidney transplantation. RESULTS: Among recipients with pre graft failure cPRA < 50%, calcineurin inhibitor (CNI) continuation (OR .11, P = .003) and steroid continuation (OR .17, P = .04) were associated with significantly lower odds of developing an absolute increase in cPRA of ≥50%. Each additional HLA mismatch was associated with OR of 2.16 (P = .02). CNI use was associated with OR of .09 (P = .001) for increase in cPRA to ≥80% if pre graft failure cPRA was <50%, and OR of .08 (P = .02) for increase in cPRA to ≥98% if pre graft cPRA was <80%. Anti-metabolites were continued more often among recipients who had a <50% increase (P = .006); however, the association was lost on multivariate analyses. Weaning off immunosuppression and higher number of HLA mismatches are associated with greater likelihood of sensitization. CONCLUSION: While both CNI and steroid continuation conferred some protection against increase in cPRA, CNI continuation was the only factor protecting against becoming highly sensitized.


Assuntos
Rejeição de Enxerto , Insuficiência Renal , Aloenxertos , Inibidores de Calcineurina , Feminino , Rejeição de Enxerto/etiologia , Sobrevivência de Enxerto , Antígenos HLA , Teste de Histocompatibilidade , Humanos , Imunossupressores/efeitos adversos , Rim , Masculino
11.
Medwave ; 21(5): e8221, 2021 Jun 29.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-34369920

RESUMO

OBJECTIVE: To determine the main clinical and tomographic characteristics of patients with diffuse interstitial lung disease at Trujillo Regional Teaching Hospital. METHODS: Case series. Tomographic examinations and clinical data were obtained from patients with interstitial pulmonary disease who attended the pulmonology service of Trujillo Regional Teaching Hospital. The information collected was recorded and systematized in Excel. For the statistical analysis, SPSS 23.0 program was used. RESULTS: Data from 103 patients were obtained, of which 60.2% were female, and 39.8% were male. The average age was 72 years for both groups. Main clinical manifestations were cough (82.5%), dyspnea (76.7%), joint pain (43.7%), weight loss (40.8%), velcro crackles (35%) and digital clubbing (28.2%). Exposure to wood smoke was present in 46.6%, exposure to inorganic dust in 12.6% and fowl ownership in 9.7% of cases. Thirty-one (30.1%) patients presented comorbidities. Among these, rheumatic diseases and arterial hypertension were the most frequent. Non-specific interstitial pneumonia pattern was present in 26.2% of the cases; probable usual interstitial pneumonia in 16.5%; organized type in 12.6%; usual interstitial in 10.7%; acute interstitial in 2.9% and 27.1% had no defined tomographic pattern. CONCLUSIONS: In the studied population, clinical and tomographic characteristics of interstitial lung parenchymal diseases are variable in magnitude and forms of presentation. Female sex and exposure to fuels were the most frequent associated factors. Connective tissue diseases could also explain study findings.


OBJETIVO: Determinar las principales características clínicas y tomográficas de los pacientes con enfermedad pulmonar intersticial difusa que fueron atendidos en el Hospital Regional Docente de Trujillo. MÉTODOS: Serie de casos. Se obtuvieron exámenes tomográficos y datos clínicos de pacientes con enfermedad pulmonar intersticial. La información recogida se registró y sistematizó en hojas de cálculo del programa Microsoft Excel. Para el análisis estadístico se utilizó el programa SPSS 23,0. RESULTADOS: Se obtuvieron datos de 103 pacientes. De ellos 60,2% correspondió a pacientes de sexo femenino y 39,8% a sexo masculino. El promedio de edad fue de 72 años para ambos grupos. Las manifestaciones clínicas fueron tos (82,5%), disnea (76,7%), dolor articular (43,7%), pérdida de peso (40,8%), crepitantes tipo velcro (35%) y acropaquía (28,2%). La exposición al humo de leña se presentó en 46,6%, a la exposición a polvo inorgánico en 12,6% y a la tenencia de aves 9,7%. Presentaron comorbilidades 31 (30,1%) pacientes. De ellas las enfermedades más frecuentes fueron las reumatológicas e hipertensión arterial. El patrón de neumonía intersticial no específica se presentó en 26,2% de los casos; probable neumonía intersticial usual en 16,5%; la de tipo organizada en 12,6%; la intersticial usual en 10,7%; la intersticial aguda en 2,9% y 27,1% no tenía un patrón tomográfico definido. CONCLUSIONES: Las características clínicas y tomográficas de las enfermedades intersticiales del parénquima pulmonar en la población estudiada son variables en magnitud y en formas de presentación. El sexo femenino y la exposición a combustibles fueron los factores de mayor frecuencia. Las enfermedades del tejido conectivo podrían explicar también los hallazgos del estudio.


Assuntos
Doenças Pulmonares Intersticiais/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Idoso , Feminino , Hospitais de Ensino , Humanos , Hipertensão , Fibrose Pulmonar Idiopática/epidemiologia , Doenças Pulmonares Intersticiais/epidemiologia , Masculino , Peru/epidemiologia , Doenças Reumáticas/epidemiologia
12.
Immun Inflamm Dis ; 9(4): 1508-1519, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34407300

RESUMO

BACKGROUND: The effect of low-level pretransplant donor-specific antibody (DSA) on kidney transplant outcomes is not well described. The goal of this study was to compare outcomes among patients of varying immunologic risk, based on the level of pretransplant DSA. METHODS: We retrospectively reviewed all adult kidney transplant recipients who had undergone a transplant at our center between January 2013 and May 2017. Patients were grouped as negative DSA (mean fluorescence intensity, [MFISUM < 100]), low-level DSA (MFISUM 100-1000), and positive DSA (MFISUM > 1000). Rejection, infection, graft, and patient survival were outcomes measured. RESULTS: Of 952 patients, 82.1% had negative DSA, 10.7% had low-level DSA, and 7.1% had positive DSA. The positive DSA group had the highest rate of antibody-mediated rejection (10.3%), followed by low-level DSA (7.8%) and the negative DSA group (4.5%) (p = .034). The rate of BK viremia was highest in the positive DSA group (39.7%), followed by the low-level group (30.4%) and the negative DSA group (25.6%), (p = .025). None of the other outcomes, including graft or patient survival, were different between the groups. CONCLUSION: While low-level DSA should not prevent proceeding with kidney transplantation, it should not be ignored. Future studies are needed to investigate the long-term effects of varying levels of pre-transplant DSA on outcomes.


Assuntos
Transplante de Rim , Adulto , Rejeição de Enxerto , Antígenos HLA , Teste de Histocompatibilidade , Humanos , Estudos Retrospectivos
13.
J Am Soc Nephrol ; 32(11): 2743-2758, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34253587

RESUMO

BACKGROUND: Donor -specific HLA antibody (DSA) is present in many kidney transplant patients whose biopsies are classified as no rejection (NR). We explored whether in some NR kidneys DSA has subtle effects not currently being recognized. METHODS: We used microarrays to examine the relationship between standard-of-care DSA and rejection-related transcript increases in 1679 kidney transplant indication biopsies in the INTERCOMEX study (ClinicalTrials.gov NCT01299168), focusing on biopsies classified as NR by automatically assigned archetypal clustering. DSA testing results were available for 835 NR biopsies and were positive in 271 (32%). RESULTS: DSA positivity in NR biopsies was associated with mildly increased expression of antibody-mediated rejection (ABMR)-related transcripts, particularly IFNG-inducible and NK cell transcripts. We developed a machine learning DSA probability (DSAProb) classifier based on transcript expression in biopsies from DSA-positive versus DSA-negative patients, assigning scores using 10-fold cross-validation. This DSAProb classifier was very similar to a previously described "ABMR probability" classifier trained on histologic ABMR in transcript associations and prediction of molecular or histologic ABMR. Plotting the biopsies using Uniform Manifold Approximation and Projection revealed a gradient of increasing molecular ABMR-like transcript expression in NR biopsies, associated with increased DSA (P<2 × 10-16). In biopsies with no molecular or histologic rejection, increased DSAProb or ABMR probability scores were associated with increased risk of kidney failure over 3 years. CONCLUSIONS: Many biopsies currently considered to have no molecular or histologic rejection have mild increases in expression of ABMR-related transcripts, associated with increasing frequency of DSA. Thus, mild molecular ABMR-related pathology is more common than previously realized.


Assuntos
Rejeição de Enxerto/genética , Antígenos HLA/imunologia , Isoanticorpos/imunologia , Transplante de Rim , Rim/patologia , Doadores de Tecidos , Transplantes/patologia , Especificidade de Anticorpos , Biópsia , Reações Falso-Negativas , Expressão Gênica , Sobrevivência de Enxerto , Análise de Componente Principal , Estudos Prospectivos , Análise de Sobrevida , Análise Serial de Tecidos , Transcrição Gênica
14.
Eur J Med Genet ; 64(9): 104278, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34174465

RESUMO

BACKGROUND: Over 70 genes that encode different cell components have been involved in the aetiology of dilated cardiomyopathy. Genotype-phenotype interactions are an unsolved problem, and to a large extent the effects of mutations in the expression mechanisms involved in the disease remain unknown, although associations are increasingly being established which have clinical and prognostic implications. METHODS AND RESULTS: The objective of our work was to describe our population that has cardiomyopathy associated with mutations in the gene RBM20, and study the genotype-phenotype relationship. We studied 8 cases undergoing follow-up at our Unit, and collected data for demographic, clinical and diagnostic testing variables. The mean age on diagnosis was 55 years [52-59], with a median follow-up of 31.5 months [26.0-67.3]. It is worth noting that 62.5% of the patients in our group had a history of cardiomyopathy in first degree relatives, and 37.5% of them had a family history of sudden death. One of the genetic variations of the sample was shared by three subjects who had no apparent family relationship with each other, and this variation had not been described in controls. It is also interesting that arrhythmic events were found in 37.5% of the sample, and 50% of patients had an indication for implantable cardiac defibrillator. CONCLUSION: This is the first analysis of patients with RBM20 mutations conducted in our country, and it indicates a profile with prominent arrhythmogenesis, a high penetrance of familial cardiomyopathy, and sudden death.


Assuntos
Cardiomiopatia Dilatada/genética , Fenótipo , Proteínas de Ligação a RNA/genética , Cardiomiopatia Dilatada/patologia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem
16.
Medwave ; 21(2): e8136, 2021 Mar 25.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-33830977

RESUMO

Foreign body aspiration is a rare but life-threatening event. Most accidental aspiration events occur in children. In adults, it can represent up to 25% of cases. Bronchoscopy remains the gold standard for diagnosing and treating foreign body aspiration from the lower respiratory tract. A 63-year-old female smoker with a history of chronic alcoholism and exposure to pyrotechnic smoke presented a productive cough, with whitish expectoration, dyspnea and pleuritic chest pain on the right side. On chest X-ray, she presented opacity in 2/3 of the right hemithorax. Computed axial tomography revealed consolidation with an air bronchogram on the right hemithorax, cylindrical bronchiectasis, ground glass pattern and centrilobular nodules. Bronchoscopic examination revealed a foreign body covered with granulation tissue in the right segmental bronchus (B6). The granulation tissue was integrated into the foreign body. In a second attempt, the foreign body could be removed, which was of bone consistency, seemingly a bird bone, confirmed by pathological anatomy results. After further questioning, the patient reported that two years before, she had choked when eating chicken. She had a cough and an episode of hemoptysis, but she chose not to ask for medical advice.


La aspiración de cuerpo extraño es un evento poco frecuente en adultos, la mayoría de los eventos de aspiración accidental ocurren en niños, en los adultos puede representar hasta el 25% de los casos. La broncoscopía es el estándar de oro para el diagnóstico y el tratamiento de la aspiración de cuerpo extraño de las vías respiratorias bajas. Se reporta el caso de una mujer de 63 años fumadora, con antecedente de alcoholismo crónico y exposición frecuente a humo de pirotecnia. La paciente presentó tos productiva, con expectoración blanquecina, disnea y dolor torácico pleurítico en lado derecho. En la radiografía de tórax presentó opacidad en 2/3 del hemitórax derecho. La tomografía axial computarizada reveló consolidación con broncograma aéreo en la base del hemitórax derecho, bronquiectasias cilíndricas, patrón vidrio deslustrado y nódulos centrilobulillares. A través del examen broncoscópico se observó la presencia de un cuerpo extraño recubierto de tejido de granulación en el bronquio segmentario derecho (B6). El tejido de granulación estaba integrado al cuerpo extraño. En el segundo intento se pudo remover el cuerpo extraño, que resultó ser a simple vista de consistencia ósea, compatible con hueso de ave, lo que fue confirmado con resultados de anatomía patológica. En ampliación de historia clínica se obtuvo el dato que dos años antes tuvo atragantamiento al comer pollo; presentó tos y episodio de hemoptisis que la paciente prefirió no buscar atención médica.


Assuntos
Brônquios/diagnóstico por imagem , Corpos Estranhos/diagnóstico por imagem , Pneumonia/etiologia , Broncografia , Broncoscopia , Tosse/etiologia , Feminino , Corpos Estranhos/complicações , Humanos , Pessoa de Meia-Idade , Pneumonia/diagnóstico , Tomografia Computadorizada por Raios X
17.
Medwave ; 21(1): e8112, 2021 Feb 09.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-33755036

RESUMO

Pseudoaneurysm is defined as a reperfused pulsatile hematoma, encapsulated and communicated with the damaged vessel's lumen. It originates when there is a disruption of the arterial wall. Hemoptysis is a very rare sign/symptom of a thoracic aortic aneurysm or pseudoaneurysm. There is little information on hemoptysis associated with aortic aneurysm rupture, whose mechanisms are not explained by the presence of an aortopulmonary fistula. Among the hypotheses to explain this phenomenon, is the ability of the bronchial arteries to become hyperplasic and tortuous in the presence of a lesion that modifies the pulmonary architecture, being more susceptible to rupture. There are also descriptions of direct lung parenchymal injury from ruptured aneurysm. The present case illustrates that we must consider the hemoptysis as a warning sign in differential diagnosis of aortic aneurysms and pseudo aneurysms, among other causes, that it can be fatal in a short time due to massive hemorrhage.


El pseudoaneurisma se define como un hematoma pulsátil repermeabilizado, encapsulado y en comunicación con la luz de un vaso dañado. Se origina cuando hay una disrupción de la pared arterial. La hemoptisis es un signo/síntoma de presentación muy rara de aneurisma aórtico torácico y de pseudoaneurisma aórtico torácico. Hay poca información sobre la hemoptisis asociada con la ruptura del aneurisma aórtico cuyo mecanismo no se explica por la presencia de una fístula aortopulmonar. Entre las hipótesis para explicar este fenómeno, se encuentra la capacidad de las arterias bronquiales de volverse hiperplásicas y tortuosas en presencia de una lesión que modifica la arquitectura pulmonar, siendo más susceptibles a la ruptura. También hay descripciones de lesiones directas del parénquima pulmonar por aneurisma roto. El presente caso nos ilustra que debemos considerar a la hemoptisis como signo de alarma en el diagnóstico diferencial de los aneurismas y pseudoaneurismas aórticos entre otras causas que puede ser fatal en breve tiempo por una hemorragia masiva.


Assuntos
Falso Aneurisma/diagnóstico por imagem , Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/diagnóstico por imagem , Ruptura Aórtica , Hemoptise/etiologia , Idoso de 80 Anos ou mais , Falso Aneurisma/complicações , Falso Aneurisma/cirurgia , Aneurisma da Aorta Torácica/complicações , Aneurisma da Aorta Torácica/cirurgia , Angiografia por Tomografia Computadorizada , Diagnóstico Diferencial , Hemoptise/diagnóstico , Humanos , Masculino , Tomografia por Raios X
19.
Int J Immunogenet ; 48(2): 110-119, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33586864

RESUMO

Antibody-mediated rejection (ABMR) stands as the major limitation to long-term transplant outcome. The immunologic understanding of ABMR continues to progress and has identified natural killer (NK) cells as key effector cells promoting and coordinating the immune attack on the graft microvascular endothelium. This review discusses the current concepts outlining the different ways that allow for NK cell recognition of graft endothelial cells which includes antibody-dependent as well as independent processes.


Assuntos
Endotélio Vascular/patologia , Rejeição de Enxerto/imunologia , Isoanticorpos/imunologia , Células Matadoras Naturais/imunologia , Especificidade de Anticorpos , Citotoxicidade Imunológica , Endotélio Vascular/imunologia , Rejeição de Enxerto/patologia , Humanos , Imunoglobulina G/imunologia , Linfócitos/imunologia , Monócitos/imunologia , Receptores de IgG/imunologia , Transplantes/irrigação sanguínea , Transplantes/imunologia , Vasculite/etiologia , Vasculite/imunologia
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