RESUMEN
INTRODUCTION AND AIMS: Lynch-like syndrome is diagnosed when there is an expression deficit in DNA mismatch repair proteins but a normal genetic study. The behavior and management of that pathology are currently a subject of debate. We present herein the characteristics of patients with Lynch-like syndrome, together with a surveillance proposal. MATERIALS AND METHODS: Immunohistochemistry was carried out on families suspected of presenting with Lynch syndrome. Germline analysis was done if there was loss of mismatch repair protein expression and no BRAF mutation. RESULTS: Of the 148 patients that underwent immunohistochemistry testing, 23 presented with loss of mismatch repair protein expression. Seven of those patients were identified as having Lynch-like syndrome: 3had colon cancer, 2had endometrial tumor, and 2were healthy, with an affected relative. Mean patient age was 56.9 years and only one patient presented with another tumor associated with Lynch syndrome. CONCLUSIONS: Until there is a better understanding of the etiology of that heterogeneous entity, intermediate surveillance is an adequate strategy.
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Adulto , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales Hereditarias sin Poliposis/terapia , Reparación de la Incompatibilidad de ADN , Neoplasias Endometriales/diagnóstico , Femenino , Mutación de Línea Germinal , Humanos , Inmunohistoquímica , Persona de Mediana EdadAsunto(s)
Síndrome de Peutz-Jeghers/diagnóstico , Quinasas de la Proteína-Quinasa Activada por el AMP , Adolescente , Endoscopía Gastrointestinal , Hamartoma/diagnóstico , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Humanos , Pólipos Intestinales/diagnóstico , Pólipos Intestinales/diagnóstico por imagen , Pólipos Intestinales/cirugía , Masculino , Síndrome de Peutz-Jeghers/diagnóstico por imagen , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinasas/genéticaRESUMEN
The standard treatment of chronic hepatitis C, pegylated interferon and ribavirin (pegI/R), has many limitations in both effectiveness and secondary effects, which makes it unsuitable or even contraindicated for some patients. In hepatitis C virus-infected cystic fibrosis patients this treatment could increase respiratory infections with subsequent pulmonary function deterioration. On the contrary, hepatitis C virus (HCV) infection may make lung transplant (LT) unfeasible. We present the case of a cystic fibrosis-young man diagnosed with HCV infection during LT assessment who was treated with pegI/R. In spite of the lung function worsening and respiratory infections, he managed to complete treatment and even sustained virological response (SVR). At present he is on LT waiting list.
Asunto(s)
Fibrosis Quística/complicaciones , Fibrosis Quística/cirugía , Hepatitis C Crónica/tratamiento farmacológico , Trasplante de Pulmón/fisiología , Adulto , Antivirales/uso terapéutico , Quimioterapia Combinada , Hepatitis C Crónica/complicaciones , Humanos , Interferones/uso terapéutico , Hígado/patología , Masculino , Sistema Porta/patología , Ribavirina/uso terapéuticoAsunto(s)
Humanos , Femenino , Persona de Mediana Edad , Linfoma de Células B de la Zona Marginal/diagnóstico , Linfoma de Células B de la Zona Marginal/cirugía , Duodeno/patología , Duodeno/cirugía , Helicobacter pylori/aislamiento & purificación , Helicobacter pylori/patogenicidad , Infecciones por Helicobacter/patología , Gastroscopía , Linfoma de Células B de la Zona Marginal/fisiopatología , Linfoma de Células B de la Zona Marginal , Duodeno , Diagnóstico DiferencialRESUMEN
BACKGROUND: Gastric adenocarcinoma (GA) has been considered a disease of elderly age and has been rarely reported in patients younger than 35 years of age. The aim of thisΩ demographic, clinicopathological and prognosis of gastric cancer in young patients and to compare their features with the behavior in elder adults. METHODS: Between 1993 and 2008, 1536 patients with GA were enrolled in a retrospective database. Clinical and pathologic features of thirty patients aged 35 years or less (young group) were compared with those of 458 aged 75 years or more (elder group). RESULTS: Mean patient age was 31 and 80-years old in the young and elder groups, respectively, with a predominance of females in the last group (61%). Lauren diffuse type carcinoma was more frequent in people younger than 35 years (70%) than in older patients (17.4%). Main symptoms were dyspepsia (40%) and hemorrhage (20%). The most common T stage in young and elder patients was T3 (52.9% and 56.7% respectively). Surgical resection was performed in 68% of cases and the rest received only systemic chemotherapy. CONCLUSION: Gastric adenocarcinoma is rare in young patients and most cases presented at advanced clinical stage similar to elderly patients, so the prognosis in both age groups is poor. For this reason is important to be aware of alarm symptoms and risk factors in order to perform an early endoscopic diagnosis and a treatment with curative intent.
Asunto(s)
Adenocarcinoma/epidemiología , Neoplasias Gástricas/epidemiología , Adenocarcinoma/patología , Adenocarcinoma/terapia , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Terapia Combinada , Bases de Datos Factuales , Femenino , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias Gástricas/patología , Neoplasias Gástricas/terapia , Análisis de Supervivencia , Adulto JovenRESUMEN
El tratamiento estándar de la hepatitis crónica C, interferón pegilado (INF-peg) y ribavirina (RBV), puede ser inadecuado o incluso estar contraindicado en algunos pacientes debido a sus limitaciones en cuanto a eficacia y efectos adversos. En pacientes con fibrosis quística infectados por el virus de la hepatitis C (VHC) el tratamiento antiviral podría aumentar las infecciones respiratorias con el consiguiente empeoramiento de la función pulmonar. Por contra, la infección por VHC podría desestimar a estos pacientes para un necesario trasplante pulmonar. Presentamos el caso de un varón con fibrosis quística diagnosticado de infección VHC durante su evaluación previa al trasplante pulmonar. El paciente fue tratado con INF-peg y RBV. A pesar del empeoramiento en la función pulmonar y numerosas infecciones respiratorias intercurrentes, logró completar el tratamiento y obtener respuesta viral sostenida, encontrándose actualmente en lista de espera(AU)
The standard treatment of chronic hepatitis C, pegylated interferon and ribavirin (pegI/R), has many limitations in both effectiveness and secondary effects, which makes it unsuitable or even contraindicated for some patients. In hepatitis C virus-infected cystic fibrosis patients this treatment could increase respiratory infections with subsequent pulmonary function deterioration. On the contrary, hepatitis C virus (HCV) infection may make lung transplant (LT) unfeasible. We present the case of a cystic fibrosisyoung man diagnosed with HCV infection during LT assessment who was treated with pegI/R. In spite of the lung function worsening and respiratory infections, he managed to complete treatment and even sustained virological response (SVR). At present he is on LT waiting list(AU)
Asunto(s)
Humanos , Masculino , Adulto , Hepatitis C Crónica/diagnóstico , Hepatitis C Crónica/terapia , Fibrosis Quística/complicaciones , Fibrosis Quística/diagnóstico , Ribavirina/uso terapéutico , Infecciones del Sistema Respiratorio/complicaciones , Infecciones del Sistema Respiratorio/diagnóstico , Infecciones del Sistema Respiratorio/tratamiento farmacológico , Hepatitis C Crónica/complicaciones , Hepatitis C Crónica/fisiopatología , Acondicionamiento Pretrasplante/instrumentación , Acondicionamiento Pretrasplante/métodos , Trasplantes/tendencias , Pruebas de Sensibilidad Microbiana , Interferones/uso terapéuticoAsunto(s)
Humanos , Masculino , Persona de Mediana Edad , Amiloidosis/complicaciones , Amiloidosis/diagnóstico , Colonoscopía/métodos , Colonoscopía , Endoscopía/métodos , Endoscopía , Inmunohistoquímica/instrumentación , Colon/anatomía & histología , Colectomía/métodos , Amiloidosis , Inmunohistoquímica/métodos , Inmunohistoquímica/tendencias , Colon/patología , Colon/cirugía , ColonAsunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/diagnóstico por imagen , Insecticidas/envenenamiento , Intoxicación por Organofosfatos , Enfermedad Hepática Inducida por Sustancias y Drogas/complicaciones , Enfermedad Hepática Inducida por Sustancias y Drogas/cirugía , Hemoperitoneo/etiología , Hemoperitoneo/cirugía , Humanos , Masculino , Persona de Mediana Edad , Necrosis/inducido químicamente , Necrosis/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Acute tumour lysis syndrome (TLS) is a catastrophic complication of the treatment of certain neoplastic disorders. It most commonly occurs in association with hematologic malignancies and appears a few hours to a few days after initiation of specific chemotherapy, as the result from the release of intracellular components into the bloodstream due to abrupt malignant cell death. Acute spontaneous TLS is rare, and it has been described in leukemia and lymphoma and in some patients with solid tumors prior to institution of therapy. The syndrome is characterized by hyperuricemia, hyperphosphatemia, hypocalcemia, hyperkalemia, and acute oliguric or anuric renal failure due to uric acid precipitation within the tubules (acute uric acid nephropathy) and to calcium phosphate deposition in the renal parenchyma and vessels.We report a case of acute spontaneous TLS in a patient with Crohn s disease treated with immunosuppressive drugs, who developed a plasmocytoma, in which serum uric acid concentration attained exceptionally high levels (44 mg/dL). The patient underwent acute oliguric renal failure, which required treatment with hyperhydration, urine alkalinization, urate oxidase and hemodialysis, with a fatal evolution.In conclusion, the present case report has several peculiarities: that of being one of the rare examples of spontaneous TLS, that of showing an exceptionally severe hyperuricemia, probably the highest ever reported in the literature, and that of the possible increased risk of tumours in patients with Crohn s disease taking inmunosuppressives and/or TNF antagonists.
Asunto(s)
Enfermedad de Crohn/tratamiento farmacológico , Inmunosupresores/efectos adversos , Síndrome de Lisis Tumoral/etiología , Enfermedad Aguda , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Linitis Plástica/diagnóstico , Neoplasias Gástricas/diagnóstico , Anciano , Femenino , HumanosRESUMEN
El síndrome de lisis tumoral (SLT) es una complicación catastrófica del tratamiento de ciertas enfermedades neoplásicas. Si bien es más frecuente en pacientes con neoplasias hematológicas malignas tras el inicio de la quimioterapia, puede presentarse excepcionalmente, tras la necrosis espontánea de algunos tumores, en ausencia de tratamiento citostático. Clínicamente cursa con hiperuricemia, hiperfosfatemia, hipocalcemia, hiperpotasemia y fallo renal agudo. Presentamos el caso de un paciente con enfermedad de Crohn en tratamiento inmunospresor, que desarrolló un síndrome de lisis tumoral espontáneo como debut de un plasmocitoma. Al ingreso, se objetivó un fracaso renal oligoanúrico que, a pesar de tratamiento precoz con hiperhidratación, alcalinización de la orina, urato-oxidasa y hemodiálisis, tuvo un desenlace fatal en 72 horas. Este caso reviste un interés particular por lo excepcional de la naturaleza "espontánea" del síndrome de lisis tumoral en ausencia de quimioterapia, por presentarse con una hiperuricemia extrema, probablemente la más alta de las recogidas en la literatura, y por la controversia actual de la terapia con inmunosupresores y/o biológicos en la enfermedad inflamatoria intestinal y su relación con el desarrollo de determinados tumores(AU)
Acute tumour lysis syndrome (TLS) is a catastrophic complication of the treatment of certain neoplastic disorders. It most commonly occurs in association with hematologic malignancies and appears a few hours to a few days after initiation of specific chemotherapy, as the result from the release of intracellular components into the bloodstream due to abrupt malignant cell death. Acute spontaneous TLS is rare, and it has been described in leukemia and lymphoma and in some patients with solid tumors prior to institution of therapy. The syndrome is characterized by hyperuricemia, hyperphosphatemia, hypocalcemia, hyperkalemia, and acute oliguric or anuric renal failure due to uric acid precipitation within the tubules (acute uric acid nephropathy) and to calcium phosphate deposition in the renal parenchyma and vessels. We report a case of acute spontaneous TLS in a patient with Crohn's disease treated with immunosuppressive drugs, who developed a plasmocytoma, in which serum uric acid concentration attained exceptionally high levels (44 mg/dL). The patient underwent acute oliguric renal failure, which required treatment with hyperhydration, urine alkalinization, urate oxidase and hemodialysis, with a fatal evolution. In conclusion, the present case report has several peculiarities: that of being one of the rare examples of spontaneous TLS, that of showing an exceptionally severe hyperuricemia, probably the highest ever reported in the literature, and that of the possible increased risk of tumours in patients with Crohn's disease taking inmunosuppressives and/or TNF antagonists(AU)
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/diagnóstico , Sarcoma/diagnóstico , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/diagnóstico , Inmunosupresores/uso terapéutico , Lesión Renal Aguda/complicaciones , Lesión Renal Aguda/diagnósticoAsunto(s)
Humanos , Femenino , Persona de Mediana Edad , Linitis Plástica/complicaciones , Linitis Plástica/diagnóstico , Linitis Plástica/terapia , Pronóstico , Neoplasias Gastrointestinales/complicaciones , Adenocarcinoma/complicaciones , Gastroscopía/métodos , Linitis Plástica/fisiopatología , Linitis Plástica , Gastroscopía/tendenciasRESUMEN
No disponible
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Humanos , Femenino , Anciano , Equinococosis Hepática/cirugía , Equinococosis Hepática/complicaciones , Esfinterotomía EndoscópicaRESUMEN
No disponible