Clinical and Pathological Characterization of Lynch-Like Syndrome

Background & aims: Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins-this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features. Methods: We collected data from a nationwide-registry of patients with colorectal cancer (CRC) in Spain. We identified patients whose colorectal tumors had loss of MSH2, MSH6, PMS2, or MLH1 (based on immunohistochemistry), without the mutation encoding V600E in BRAF (detected by real-time PCR), and/or no methylation at MLH1 (determined by methylation-specific multiplex ligation-dependent probe amplification), and no pathogenic mutations in MMR genes, BRAF, or EPCAM (determined by DNA sequencing). These patients were considered to have LLS. We collected data on demographic, clinical, and pathology features and family history of neoplasms. The χ2 test was used to analyze the association between qualitative variables, followed by the Fisher exact test and the Student t test or the Mann-Whitney test for quantitative variables. Results: We identified 160 patients with LLS; their mean age at diagnosis of CRC was 55 years and 66 patients were female (41%). The Amsterdam I and II criteria for Lynch syndrome were fulfilled by 11% of cases and the revised Bethesda guideline criteria by 65% of cases. Of the patients with LLS, 24% were identified in universal screening. There were no proportional differences in sex, indication for colonoscopy, immunohistochemistry, pathology findings, or personal history of CRC or other Lynch syndrome-related tumors between patients who met the Amsterdam and/or Bethesda criteria for Lynch syndrome and patients identified in universal screening for Lynch syndrome, without a family history of CRC. Conclusions: Patients with LLS have homogeneous clinical, demographic, and pathology characteristics, regardless of family history of CRC

Not enough QRS shortening? Keep calm and add another lead

Cardiac resynchronization therapy (CRT) diminishes symptoms and reduces hospitalization and mortality in patients with heart failure, LV dysfunction and left bundle branch block. However, up to one third of patients do not respond to CRT. In that regard, few initial studies presenting multisite pacing have shown encouraging results, demonstrating both feasibility and safety in placing a second CS lead in >80% of patients intended, with further QRS shortening, which is the most powerful predictor of LV reverse remodelling

Papilomatosis esofágica y en vías respiratorias: Informe de casos Papillomatosis of the esophagus and of the airways: A case report

Se presentan dos casos estudiados en el Centro de Investigaciones Medicoquirúrgicas (CIMEQ), diagnosticados de papilomatosis en esófago uno y en vías respiratorias el otro. Se realiza un breve recuento del diagnóstico, la evolución y el tratamiento tanto médico como quirúrgico aplicado a cada uno. En la actualidad los pacientes se encuentran bajo tratamiento sistémico con interferón α. El paciente con diagnóstico de papilomatosis de las vías respiratorias presenta recidiva de la enfermedad, constatada por broncoscopias posteriormente realizada

Ultra-early continuous cardiac monitoring improves atrial fibrillation detection and prognosis of patients with cryptogenic stroke

Background and purpose: Subclinical atrial fibrillation (AF) is known to underlie a number of cases of cryptogenic stroke (CrS). However, there is need to define the most effective strategy for AF detection. The diagnostic usefulness was analysed of a strategy based on ultra-early continuous monitoring in patients with CrS in terms of AF detection, oral anticoagulation treatment and stroke recurrence, in comparison to a standard outpatient strategy. Methods: Patients with ischaemic stroke of undetermined origin and confirmed to be cryptogenic after extensive work-up were searched for AF with (i) a conventional strategy (historical cohort, n = 101) with serial electrocardiograms and 24-h Holter monitoring or (ii) an ultra-early monitoring strategy with insertable cardiac monitor (ICM) implanted before discharge (prospective cohort, n = 90). AF episodes lasting >1 min, anticoagulant treatment and stroke recurrence were recorded. Results: During admission, AF was similarly detected in both cohorts (24% of patients). After discharge (mean follow-up 30 ± 10 months), AF detection rates were 17/80 (21.3%) and 38/65 (58.5%) for patients in the conventional versus the ultra-early ICM group (P < 0.001). Up to 41% of AF cases in the ICM cohort were detected within the first month. Oral anticoagulation was initiated in 37.6% versus 65.5% (P < 0.001) and stroke recurrence was recorded in 10.9% versus 3.3% (P 0.04) in the conventional versus the ICM cohort. Conclusions: Pre-discharge ICM implant allows detection of AF during follow-up in up to 58% of selected patients with CrS. Compared to a conventional strategy, ultra-early ICM implant results in higher anticoagulation rates and a decrease in stroke recurrence

Extracción multiorgánica Multiorgan removal

El trasplante de órganos y tejidos ha revolucionado la medicina y se ha incorporado a la rutina terapéutica de un número cada vez mayor de centros en casi todos los países desarrollados. Ello ha sido posible gracias a una selección más rigurosa de los receptores, a una mejor técnica quirúrgica y anestésica, a los mejores cuidados posoperatorios y al desarrollo de la inmunología y de la farmacología, con la aparición de nuevos y más potentes inmunosupresores, antibacterianos, antivíricos y antimicóticos. La acuciante necesidad de obtener órganos para realizar trasplantes de corazón, pulmón, hígado, páncreas y riñón obliga al aprovechamiento máximo de los escasos cadáveres susceptibles de donar órganos. Para ello son fundamentales la extracción multiorgánica como procedimiento quirúrgico de elección y el adecuado mantenimiento del donante. En el futuro podemos esperar, con confianza, mayores adelantos y una más amplia aplicación, así como trabajar en la obtención de mayor número de donante

Tumores de tráquea: un caso de carcinoma adenoideo quístico Tracheal tumors: a case of adenoidal cystic carcinoma

Los tumores de la tráquea son poco frecuentes y entre ellos el carcinoma adenoideo quístico es una neoplasia muy rara. La incidencia no difiere según el sexo y es más frecuente entre la tercera y quinta décadas de la vida. El tratamiento de elección es el quirúrgico, siempre que se trate de tumores resecables. Con este trabajo presentamos un caso intervenido por un tumor traqueal infrecuente, en una mujer con un carcinoma adenoideo quístico del tercio superior de la tráquea, con bordes de sección libres de tumor, que no recibió tratamiento oncológic