Assuntos
Sequência de Bases , Receptores de Proteínas Morfogenéticas Ósseas Tipo I/genética , Cromossomos Humanos Par 10 , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA , Deleção de Sequência , Idade de Início , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência MolecularRESUMO
OBJECTIVES: High-sensitivity troponin is a biomarker of myocardial damage and is associated with a greater risk of mortality and disease progression in patients with acute heart failure (AHF). However, its relationship with the risk of future readmissions is less known. The aim of this study was to assess the association between ultrasensitive troponin T (TnT-us) values in patients with AHF and the risk of recurrent readmissions in the follow-up. METHODS: We prospectively included a cohort of 621 consecutive patients with AHF, excluding those patients with acute coronary syndrome. We measured the TnT-us levels obtained during the first medical contact in the emergency department. The risk of cumulative readmissions was assessed using negative binomial regression. RESULTS: The mean age of the participants was 73.6±10.8 years, 54.6% were men, and 52% had a left ventricular systolic function ≥50%. The median TnT-us level was 35.5pg/ml (interquartile range [IQR], 22-67). After a median follow-up of 1.2 years (IQR, 0.4-2.4), a total of 153 deaths (24.6%) were recorded, as well as 689 readmissions for all causes in 303 patients (48.8%) and 286 readmissions for HF in 163 patients (26.3%). In the multivariate analysis, the high TnT-us values were associated with an increased risk of readmission, both for all causes and for HF (incidence rate ratio [IRR], 1.16; 95% confidence interval, 1.02-1.36; p=.029 and IRR, 1.23; 95% confidence interval, 1.04-1.46; p=.018, respectively). CONCLUSIONS: For patients with AHF, the increase in TnT-us levels was independently associated with a risk of recurrent readmissions during the follow-up.
RESUMO
We report the case of a renal transplant recipient who developed acute acalculous cholecyscitis resulting in gallbladder perforation. At admission CMV antigenemia was negative. Emergency laparatomy was performed and showed the gallbladder to be infarted with a perforation. The abdominal cavity contained two litres of sterile bilious fluid. The pathological report showed frequent endothelial cells contained intranuclear and intracitoplasmatic inclusion (fig. 1). Treatment with Ganciclovir iv was started after diagnosis, but a computerized tomography scan demonstrated severe acute pancreatitis (grade E. Baltazar). The patient developed multiorgan failure and died on 19th day after surgery. Necropsy showed cytomegalic inclusions in pancreas (fig. 2), gastrointerstinal tract, lung and graft. A necroticing pneumonia with Mycotic spores and hiphae was seen. Aspergillus was also observed in myocardium (fig. 3).
Assuntos
Colecistite Acalculosa/complicações , Infecções por Citomegalovirus/complicações , Transplante de Rim , Pancreatite/complicações , Colecistite Acalculosa/virologia , Aspergilose/complicações , Infecções por Citomegalovirus/diagnóstico , Evolução Fatal , Vesícula Biliar , Cardiopatias/complicações , Cardiopatias/microbiologia , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência de Múltiplos Órgãos , Pancreatite/virologia , Ruptura EspontâneaRESUMO
We describe a 1,000-g twin fetus with absent kidneys and ureters, anal atresia and minimal evidence of external genitalia, and hypoplastic lower limbs with absent feet. A postmortem arteriogram showed a large single umbilical artery in direct continuation with the abdominal aorta, a unique anomaly almost always related to sirenomelia. We discuss the possible diagnosis of this case as sirenomelia or caudal dysgenesis, and the controversy as to whether they are two related or separate entities.
Assuntos
Anormalidades Múltiplas/patologia , Ectromelia , Artérias Umbilicais/anormalidades , Evolução Fatal , Humanos , Recém-Nascido , MasculinoRESUMO
OBJECTIVE: To determine the rate of mother to child transmission of HIV infection in women treated with zidovudine (ZDV). PATIENTS AND METHODS: A consecutive series of 52 HIV-positive pregnant women who either received antenatal care or delivered at our institution. Forty-three women were known to be HIV positive before delivery. Forty were treated with ZDV, 36 intravenously. Twelve had no antenatal care and one refused antenatal treatment. All neonates were treated with ZDV. RESULTS: The HIV transmission rate in children born to mothers treated with ZDV was 6.6%. This compares with a transmission rate of 14% before we used ZDV. All three mothers who transmitted infection had low compliance, initiated therapy late in pregnancy or had advanced disease. CONCLUSION: Our experience supports the idea that ZDV treatment has reduced HIV transmission rate.
Assuntos
Infecções por HIV/tratamento farmacológico , Infecções por HIV/transmissão , Complicações Infecciosas na Gravidez/virologia , Zidovudina/uso terapêutico , Adulto , Peso ao Nascer , Contagem de Linfócito CD4 , Cesárea , Parto Obstétrico , Feminino , Monitorização Fetal , Idade Gestacional , Frequência Cardíaca Fetal , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Gravidez , Parceiros Sexuais , Abuso de Substâncias por Via IntravenosaRESUMO
A 37-year-old woman had a mass in her left ocular globe. Uveal melanoma was suspected and enucleation was performed. Microscopically, the lesion proved to be a typical case of mesectodermal leiomyoma of the ciliary body. According to some authors, the peculiar neural appearance of this tumor could be the reflection of its probable origin from mesectodermal smooth muscle. Immunohistochemical analysis showed reactivity for muscle-specific actin and negativity for desmin, S-100 protein, HMB-45, EMA, and GFAP. Our results do not support the proposed neuroectodermical origin of this tumor, since coexpression of muscular and neural markers was not observed.
Assuntos
Corpo Ciliar/patologia , Leiomioma/patologia , Neoplasias Uveais/patologia , Adulto , Biomarcadores Tumorais/análise , Corpo Ciliar/química , Corpo Ciliar/cirurgia , Enucleação Ocular , Feminino , Humanos , Leiomioma/química , Leiomioma/cirurgia , Proteínas de Neoplasias/análise , Resultado do Tratamento , Neoplasias Uveais/química , Neoplasias Uveais/cirurgiaRESUMO
Phyllodes tumor arising from ectopic breast tissue of the vulva is an extremely rare occurrence. A case is reported in a 34-year-old nulligravida woman, presenting as a nodule on the left labium majus. A simple excision was carried out, and no recurrence has been detected after 18 months of follow-up.
Assuntos
Mama , Coristoma/patologia , Tumor Filoide/patologia , Neoplasias Vulvares/patologia , Adulto , Coristoma/cirurgia , Feminino , Humanos , Tumor Filoide/cirurgia , Resultado do Tratamento , Neoplasias Vulvares/cirurgiaRESUMO
The occurrence of hyaline inclusions in stromal cells in fibroepithelial tumors of the breast is very uncommon. These inclusions, characteristic of infantile digital fibromatosis, are comprised of actin filaments. This report illustrates a case of a benign phyllodes tumor of the breast with inclusion bodies, identified by fine-needle aspiration. Histologically, many of the stromal cells contained round intracytoplasmic inclusions, with positivity for smooth muscle actin.
Assuntos
Neoplasias da Mama/patologia , Tumor Filoide/patologia , Adulto , Biópsia por Agulha , Feminino , Humanos , Células Estromais/patologiaRESUMO
Droxicam in a nonsteroid antiinflammatory from the oxicam family which acts as a pro-drug, being transformed into pyroxicam after being hydrolized in the stomach and has induced several cases of cholestatic or mixed hepatitis. A clinical observation in which droxicam provoked initial cholestatic hepatitis which later developed into chronic autoimmune hepatitis is presented. It has been postulated that, after causing cholestatic hepatitis by hypersensitivity and within the context of a previous autoimmune entity such as vitiligo, this drug triggered a silent autoimmune liver disease which was demonstrated clinical, analytical and histopathological manifestations 18 months later and required permanent immunosuppressive treatment.
Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Doenças Autoimunes , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Colestase/induzido quimicamente , Hepatite/imunologia , Piridinas/efeitos adversos , Idoso , Doenças Autoimunes/tratamento farmacológico , Doença Hepática Induzida por Substâncias e Drogas/patologia , Colestase/patologia , Doença Crônica , Seguimentos , Hepatite/tratamento farmacológico , Hepatite/patologia , Humanos , Imunossupressores/uso terapêutico , Fígado/patologia , Masculino , Fatores de TempoRESUMO
Tamoxifen is an antiestrogenic drug that acts by binding to the estrogen receptor. The drug is used as a co-adjuvant treatment in advanced breast cancer expressing the oestrogen-receptor protein. Clinical trials of tamoxifen have shown its efficacy in reducing mortality and recurrence rates over a five-year treatment. Cases of tamoxifen-associated hepatotoxicity have been described, including cholestasis with or without cytolysis and steatohepatitis. We report the case of a female patient who developed hepatic alterations while undergoing continuous tamoxifen treatment. We also present an overview of similar cases published to date and comment on the advisability of continuing or suppressing this treatment in patients with hepatotoxicity or after a five-year treatment period.
Assuntos
Antineoplásicos Hormonais/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Tamoxifeno/efeitos adversos , Feminino , Humanos , Pessoa de Meia-IdadeAssuntos
Criptosporidiose/etiologia , Enteropatias Parasitárias/etiologia , Transplante de Rim , Infecções Oportunistas/etiologia , Complicações Pós-Operatórias/etiologia , Adulto , Animais , Azatioprina/uso terapêutico , Criptosporidiose/diagnóstico , Criptosporidiose/tratamento farmacológico , Cryptosporidium/isolamento & purificação , Ciclosporina/uso terapêutico , Feminino , Gastroscopia , Humanos , Hospedeiro Imunocomprometido , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Enteropatias Parasitárias/diagnóstico , Enteropatias Parasitárias/tratamento farmacológico , Mucosa Intestinal/parasitologia , Desnutrição/etiologia , Metilprednisolona/uso terapêutico , Ácido Micofenólico/análogos & derivados , Ácido Micofenólico/uso terapêutico , Espiramicina/uso terapêuticoRESUMO
BACKGROUND: The incidence of colorectal cancer (CRC) in Peru has been increasing, and no data have been published on the molecular features. We explored the most relevant genetic events involved in colorectal carcinogenesis, with clinical implications. METHODS: Using immunohistochemistry for mismatch-repair (MMR) proteins (MLH1, MSH2, MSH6, and PMS2) and microsatellite instability analysis, we evaluated the status of 90 non-selected CRC Peruvian patients followed in a nationwide reference hospital for cancer (INEN, Lima). Tumours with loss of hMLH1 were evaluated further for hMLH1 promoter hypermethylation and all cases were evaluated for the presence of KRAS and BRAF-V600E mutations. RESULTS: MMR deficiency was found in 35 (38.8%) patients. We identified an unexpected association between MMR deficiency and older age. Among the 14 cases with loss of MLH1, 10 samples exhibited hypermethylation. Of the 90 cases evaluated, 15 (16.7%) carried KRAS mutations; we found one previously unreported mutation (G13R). CONCLUSIONS: Peruvian CRC tumours exhibited the highest prevalence of MMR deficiency reported to date. The expected hereditary component was also high. The age of onset of these MMR deficient tumours was greater than that observed for non-MMR deficient cases, suggesting the ineffectiveness of the Bethesda criteria for Lynch syndrome screening in Peru. Prospective studies are warranted to define the molecular characteristics of CRC in this population.
Assuntos
Neoplasias Colorretais/genética , Reparo de Erro de Pareamento de DNA/genética , Distúrbios no Reparo do DNA/genética , Mutação , Proteínas Proto-Oncogênicas/genética , Proteínas ras/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Pareamento Incorreto de Bases , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/metabolismo , Distúrbios no Reparo do DNA/metabolismo , Distúrbios no Reparo do DNA/patologia , Proteínas de Ligação a DNA/metabolismo , Feminino , Inativação Gênica , Humanos , Imuno-Histoquímica , Masculino , Metilação , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Regiões Promotoras Genéticas/genética , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Proto-Oncogênicas p21(ras) , Adulto Jovem , Proteínas ras/metabolismoRESUMO
ANTECEDENTES: Frecuentemente, las pacientes con endometriosis presentan una elevación de marcadores tumorales Ca 125 y Ca 19.9. No obstante, no existe correlación clara con la expresión clínica ni con el grado de afectación. En algunos casos, es necesario un diagnóstico diferencial con patologías malignas. CASO CLÍNICO: Mujer de 29 años con clínica aislada de dismenorrea moderada y hallazgo de masas ováricas bilaterales con elevación intensa de marcadores tumorales: Ca-125: 7.716 U/mL y Ca-19.9: 995 U/mL. Se decide intervención quirúrgica laparoscópica evidenciándose endometriosis ovárica y extensión peritoneal masiva con afectación de peritoneo parietal abdominal, superficie uterina, fondo de Douglas, parametrios, vejiga, hemidiafragma derecho, hígado y serosa intestinal. Se realiza adhesiolisis cuidadosa, quistectomía y extirpación de múltiples implantes endometriósicos en cavidad abdominal. Se observó un descenso de los marcadores a las 48 horas: Ca-125 de 253 U/mL y Ca 19.9 de 4,9 U/mL, ambos negativos al mes de la cirugía. CONCLUSIÓN: Una elevación intensa de los marcadores tumorales precisa de diagnóstico diferencial en el contexto de la endometriosis. Existe una gran discrepancia entre los valores de los marcadores tumorales con la clínica y severidad de la endometriosis. Los hallazgos quirúrgicos son fundamentales, evidenciando una afectación masiva subdiagnosticada hasta la cirugía.
BACKGROUND: Frequently, patients with endometriosis present elevated tumor marker Ca 125 and Ca 19.9. However, there is no clear correlation with the clinical expression or the degree of involvement. In some cases, differential diagnosis is necessary with malignancies. CASE REPORT: A 29 year old woman with moderate dysmenorrhea and finding of bilateral ovarian masses with intense elevation of tumor markers, CA125: 7,716 U/mL and Ca-19.9: 995 U/mL. Laparoscopic surgery is decided evidenced massive ovarian endometriosis and peritoneal extension with involvement of abdominal peritoneum, uterine surface, Douglas, parametrium, bladder, right hemidiaphragm, liver and intestinal serosa. Careful liberation of adherences, ovarian cystectomy and removal of multiple endometriosic implants. A decrease of tumor markers was observed at 48 hours (Ca-125: 253 U/mL and Ca-19.9: 4.9 U/mL), and negative one month after surgery. CONCLUSION: An intense elevated tumor markers accurate differential diagnosis in the context of endometriosis. There is a large discrepancy between the values of tumor markers with clinical and severity of endometriosis.
Assuntos
Humanos , Feminino , Adulto , Antígeno Ca-125/análise , Endometriose/diagnóstico , Ovário , Peritônio , Biomarcadores Tumorais/análise , Laparoscopia , Antígeno CA-19-9/análise , Diagnóstico Diferencial , Dismenorreia , Endometriose/cirurgiaAssuntos
Hipersensibilidade ao Látex , Alérgenos/imunologia , Humanos , Látex/química , Látex/imunologiaRESUMO
Las fracturas craneales congénitas tienen baja incidencia, de una etiología desconocida, generando una gran alarma respecto a la actuación obstétrica en el momento del parto. Se presenta el diagnóstico, exploración radiológica y evolución clínica de dos recién nacidos con fractura-hundimiento craneal intrauterina, uno de ellos con manejo expectante y el otro con manejo quirúrgico. Ambos con buena evolución posterior y sin secuelas neurológicas ni estéticas.
The congenital skull fractures presented a low incidence, unknown aetiology, and it causes great alarm as far as the obstetric actions to be taken at birth are concerned. This work presents the diagnosis, radiology examinations and clinical evolution of two live-born infants with an intrauterine depressed skull fracture, one with expectant management and the other with surgical management. Both neonates showed good subsequent evolution with no neurological and no aesthetic sequelae.