Analysis of the loss of phosphatase and tensin homolog expression in thyroid tissue for the diagnosis of Cowden syndrome.

BACKGROUND: Cowden syndrome is an autosomal-dominant disorder caused by a germline phosphatase and tensin homolog mutation, giving rise to several tumors with an aggressive clinical course. In the thyroid, there are certain histologic criteria that could be related to this syndrome that could be useful for its early detection. We sought to analyze the loss of phosphatase and tensin homolog in thyroid histologic pieces with certain histologic criteria and to determine the percentage of patients diagnosed with Cowden syndrome with this methodology. METHODS: Five hundred thirty-five thyroid specimens collected were retrospectively analyzed (2017-2020). Those samples that presented certain histologic criteria were studied for loss of phosphatase and tensin homolog expression. Patients with loss of expression underwent a clinical study to rule out dermatologic or other lesions compatible with Cowden syndrome. Patients with positive clinical study were referred for genetic study. RESULTS: The phosphatase and tensin homolog study was performed in 6.7% (n = 36) of the thyroidectomy samples, showing loss of expression in 22% (n = 8); the most frequent histologic finding was the presence of multiple monomorphous adenomatous nodules. The samples with loss of expression showed more diffuse oncocytic changes. Of the 8 patients with loss of expression, 5 showed dermatologic lesions that could be associated with Cowden syndrome and 1 had a history of macrocephaly. These patients were referred for genetic study, being positive for Cowden syndromein in one quarter of the cases (n = 2). CONCLUSION: The immunohistochemical study of phosphatase and tensin homolog in pieces of thyroidectomies with histologic criteria suggestive of Cowden syndrome can help in its early diagnosis.

Colecistitis hemorrágica y hemofilia: dos complicaciones infrecuentes del lupus eritematoso sistémico / Hemorrhagic cholecystitis and hemobilia: two infrequent complications of systemic lupus erythematosus

Introducción: los pacientes afectos de lupus eritematoso sistémico (LES) sufren con frecuencia síntomas gastrointestinales. Debe incluirse en su diagnóstico diferencial la patología de la vesícula biliar. Presentamos el caso de una paciente con colecistitis alitiásica y hemobilia. Caso clínico: mujer de 24 años diagnosticada de LES en tratamiento con Sintrom®, Dacortin® y Dolquine® que presentó cuadro de colecisititis aguda litiásica y hemobilia, con presencia de cálculo enclavado en papila. Se realizó colecistectomía y apertu - ra del colédoco, lo que permitió confirmar la hemobilia y extracción del cálculo. Discusión: el tratamiento de la colecistitis en los pacientes con LES es controvertido ya que, aunque la mayoría de los casos revisados se han resuelto con la colecistectomía, otros lo han hecho mediante tratamiento conservador con corticosteroides. En nuestra opinión, la presencia de colelitiasis en un paciente con LES, dolor en hipocondrio derecho y sospecha analítico-ecográfica de colecistitis precisa un tratamiento quirúrgico ya que la causa de la colecistitis puede ser vascular por su enfermedad de base, pero también litiásica o mixta. Además, las posibles complicaciones no responderán al tratamiento farmacológico(AU)

Introduction: the patients affected by systemic lupus erythematosus (SLE) often suffer gastrointestinal symptoms. The differential diagnosis should contemplate pathology of the gall bladder. We present the case of a patient with hemorrhagic lithiasic cholecystitis and hemobilia. Case report: 24 year old female diagnosed with SLE under treatment with Sintrom®, Dacortin® and Dolquine® that presented acute lithiasic cholecystitis and hemobilia with a distal calculus. Cholecystectomy and aperture of the ductus choledochus were performed allowing to confirm the hemobilia and to extract the calculus. Discussion: the treatment of cholecystitis in the patients with SLE is controversial due to the fact that most reviewed cases have been solved with cholecystectomy, or in other cases with conservative treatment with corticosteroids. We believe that the presence of cholelithiasis in a patient with SLE with pain on the right hypochondrium and ultrasound confirming the suspicion of cholecystitis demands a surgical treatment since the cause may be vascular, lithiasic or combined. Besides, the possible complications will not respond to pharmaceutical treatment(AU)

Hemorragia digestiva baja grave de origen diverticular / Severe lower gastrointestinal tract bleeding due to diverticulosis

Introducción. La diverticulosis supone la causa más frecuente de hemorragia digestiva baja (HDB) en pacientes adultos de países occidentales. Los objetivos son analizar: 1) el manejo diagnóstico-terapéutico de los pacientes con HDB severa de origen diverticular; 2) valorar la morbimortalidad asociada; 3) analizar la necesidad de cirugía, y 4) valorar los índices de recidiva de la hemorragia tras el alta hospitalaria. Material y métodos. Se revisan retrospectivamente 42 pacientes con HDB grave de origen diverticular. Fueron considerados los siguientes casos: pacientes con rectorragias que requirieron la transfusión de al menos tres concentrados de hematíes y aquéllos pacientes que presentaron un descenso del hematocrito igual o mayor a 10 puntos. Como grupo control se utilizaron 133 HDB graves en pacientes donde las etiologías no eran la enfermedad diverticular colónica. Resultados. Todos los pacientes se estabilizaron con medidas conservadoras excepto uno que precisó cirugía urgente. Se realizó colonoscopia a 39 pacientes siendo lo más frecuente hallar signos recientes de hemorragia con independencia del momento de su realización precoz o tardía. En un caso se realizó tratamiento endoscópico mediante electrocoagulación con láser de Argón. El índice de recidiva de hemorragia tras el alta hospitalaria fue del 31% de los pacientes (n=13), precisando 7 de ellos (16%) reingreso hospitalario. Conclusión. La HDB grave de origen diverticular cede en la mayoría de los casos con tratamiento conservador aunque con un alto porcentaje de recidiva de la hemorragia. La realización de endoscopia precoz no es tan importante como en el resto de causas de HDB grave (AU)

Introduction. Diverticulosis is the most frequent cause of lower gastrointestinal (GI) bleeding in adults in western countries. The aims of the present study were to analyze: 1) the diagnostic and therapeutic management of patients with severe lower GI bleeding due to diverticulosis; 2) associated morbidity and mortality; 3) the need for surgery, and 4) bleeding recurrence rates after hospital discharge. Material and methods. Were retrospectively reviewed 42 patients with severe lower GI bleeding due to diverticulosis. Patients with rectorrhagia requiring transfusion of at least three packed red blood cell units and those with a decrease in hematocrit of 10 points or more were included. As a control group, we used 133 patients with severe lower GI hemorrhage due to causes other than colonic diverticular disease. Results. All patients were stabilized with conservative measures except one who required emergency surgery. Colonoscopy was performed in 39 patients and the most frequent finding consisted of recent signs of bleeding independently of whether colonoscopy was performed early or was delayed. Endoscopic treatment with Argon laser electrocoagulation was performed in one patient. Bleeding recurrence after hospital discharge occurred in 13 patients (31%); of these, seven (16%) required hospital readmission. Conclusion. Severe lower GI bleeding due to diverticulosis can usually be resolved with conservative treatment although the percentage of bleeding recurrence is high. Early endoscopy is not as important as in the remaining causes of severe lower GI bleeding (AU)

[Severe lower gastrointestinal tract bleeding due to diverticulosis]. / Hemorragia digestiva baja grave de origen diverticular.

INTRODUCTION: Diverticulosis is the most frequent cause of lower gastrointestinal (GI) bleeding in adults in western countries. The aims of the present study were to analyze: 1) the diagnostic and therapeutic management of patients with severe lower GI bleeding due to diverticulosis; 2) associated morbidity and mortality; 3) the need for surgery, and 4) bleeding recurrence rates after hospital discharge. MATERIAL AND METHODS: Were retrospectively reviewed 42 patients with severe lower GI bleeding due to diverticulosis. Patients with rectorrhagia requiring transfusion of at least three packed red blood cell units and those with a decrease in hematocrit of 10 points or more were included. As a control group, we used 133 patients with severe lower GI hemorrhage due to causes other than colonic diverticular disease. RESULTS: All patients were stabilized with conservative measures except one who required emergency surgery. Colonoscopy was performed in 39 patients and the most frequent finding consisted of recent signs of bleeding independently of whether colonoscopy was performed early or was delayed. Endoscopic treatment with Argon laser electrocoagulation was performed in one patient. Bleeding recurrence after hospital discharge occurred in 13 patients (31%); of these, seven (16%) required hospital readmission. CONCLUSION: Severe lower GI bleeding due to diverticulosis can usually be resolved with conservative treatment although the percentage of bleeding recurrence is high. Early endoscopy is not as important as in the remaining causes of severe lower GI bleeding.