Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.

BACKGROUND: Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in CLN3 have also been associated with isolated IRDs. Herein, a case with heterozygous CLN3 variations that had not been previously linked to a CLN3-isolated retinal degeneration (CLN3IRD) phenotype in a Hispanic female and its multimodal imaging findings across a 10-year follow-up are presented. MATERIAL AND METHODS: An observational, prospective, case report on a hispanic female with CLN3IRD is presented. Patients underwent genetic testing and color fundus photography (CFC) and autofluorescence (FAF), fluorescein angiography (FA), Spectral domain optical coherence tomography (OCT) of the macular area, electroretinogram (ERG) and 30-2 visual field examination through automated perimetry. RESULTS: A female, aged 24, affected by CLN3IRD phenotype from c.944dup and c.1305C>G compound heterozygous variants, presented with bilateral hypopigmentary changes in the macular area of OU with that corresponded to hyporautofluorescent deposits in the macular area on FAF. An atrophic maculopathy was evident on structural OCT, and FA disclosed a symmetrical macular hyperflourescence with staining in the early and late stages in OU. Humphrey visual field testing showed a marked reduction of the central visual field in OU. Electrophysiological testing revealed an ERG with markedly decreased a and b waves in OU. In ten years follow up developed of bone spiculae in the midperipheral retina. CONCLUSIONS: We reported a patient with a novel CLN3IRD severe phenotype associated with the variants c.944dup and c.1305C>G, which had previously only been associated with JCNL.

Tumor neuroendocrino de colon derecho en un paciente con colitis ulcerativa: a propósito de un caso / Right colon neuroendocrine tumor in a patient with ulcerative colitis: A case study

Resumen Los tumores neuroendocrinos del colon son relativamente raros en comparación con el carcinoma colorrectal esporádico; su incidencia es muy baja y la localización más frecuente es en el ciego, colon sigmoideo y recto. Se describe con poca frecuencia la asociación de tumor neuroendocrino con la colitis ulcerativa debido a la inflamación crónica que conduce a la diferenciación de células neuroendocrinas a partir de células multipotenciales en el epitelio displásico, que puede ser responsable del desarrollo de carcinomas neuroendocrinos colorrectales. La presentación del caso se trata de un paciente de 57 años de edad con colitis ulcerativa con cuadro de dolor abdominal, pérdida de peso y diarreas líquidas con moco. En el examen físico presentó una lesión endurecida en el marco colónico derecho con tomografía de lesión neoplásica en el colon ascendente y en su hospitalización presentó un cuadro de oclusión intestinal, por lo que se le realizó una hemicolectomía más ileostomía, cuyo resultado en la biopsia fue un tumor neuroendocrino G3 de células grandes en el colon ascendente. En este artículo se revisan de forma práctica los aspectos relacionados con la fisiopatología, diagnóstico y tratamiento de la asociación de estas dos patologías.

Abstract Neuroendocrine colon tumors are relatively unknown compared with sporadic colorectal cancer; its incidence is low, and it is generally located in the cecum, sigmoid colon, and rectum. The existing relation between neuroendocrine tumors and ulcerative colitis is not frequently described due to the chronic inflammation that leads to neuroendocrine cell differentiation from multipotential cells in the dysplastic epithelium, which can be responsible for colorectal neuroendocrine carcinomas development. The study refers to the case of a patient of 57 years old with ulcerative colitis, abdominal pain, weight loss, and liquid diarrhea with mucus. Physical examination revealed a hardened lesion in the right colonic framework with the tomography of a neoplastic lesion in the ascending colon. When the patient was hospitalized, he developed an intestinal obstruction. A hemicolectomy plus ileostomy procedure was performed resulting in a large cell G3 neuroendocrine tumor in the ascending colon revealed in the biopsy. In this article, the aspects related to the pathophysiology, diagnosis, and treatment of the association of these two pathologies are reviewed in a practical way.

Tumor de estroma gastrointestinal extraintestinal gigante: reporte de un caso y revisión de bibliografía / Giant extraintestinal gastrointestinal stromal tumor: Case report and bibliography review

Resumen Los tumores del estroma gastrointestinal (GIST) son tumores infrecuentes del tracto digestivo. Sus localizaciones más frecuentes son el estómago, intestino delgado, colon y recto; su aparición en otros lugares fuera del trato gastrointestinal como el mesenterio, epiplón o retroperitoneo es infrecuente. La tomografía axial computarizada (TAC) y la resonancia magnética (RM) son los estudios de imágenes de primera elección. La recesión quirúrgica es el estándar de oro para los tumores localizados y en los tumores avanzados o metastásicos son tratados con imatinib. A continuación, se presenta el caso de un paciente masculino de 53 años de edad sin antecedentes de patologías previos con cuadro clínico de dolor abdominal generalizado, pérdida de peso de 20 kg aproximadamente, distención abdominal, melena, hematemesis y astenia; en el examen físico presentó abdomen distendido y en la palpación se encontró endurecimiento epigástrico y mesogástrico, y marco colónico izquierdo. En la tomografía de abdomen se observó una masa tumoral de aspecto infiltrativo de aparente origen gástrico, con crecimiento extragástrico e infiltración del bazo, páncreas, raíz mesentérica, epiplón mayor, colon transverso, asas intestinales delgadas e infiltración en el hilio hepático, y metástasis hepática. Además, el cuadro se asoció con enfermedad respiratoria por coronavirus del síndrome respiratorio agudo grave de tipo 2 (SARS-CoV-2; neumonía por coronavirus de 2019 [COVID-19]). Se realizó una biopsia percutánea ecodirigida en el hipocondrio izquierdo y la histología reportó un GIST. En este artículo se revisa la clínica, diagnóstico y tratamiento del GIST gigante extradigestivo.

Abstract Giant extraintestinal gastrointestinal stromal tumors (GIST) are rare tumors of the digestive tract. Its most frequent locations are the stomach, small intestine, colon, and rectum. Its appearance in other places outside the gastrointestinal tract such as the mesentery, omentum, or retroperitoneum is infrequent. Computerized axial tomography (CT) and magnetic resonance imaging (MRI) are the imaging studies of the first choice. Surgical recession is the gold standard for localized tumors and advanced or metastatic tumors are treated with imatinib. This study presents the case of a male patient of 53 years with no history of previous pathologies. The patient was admitted with a clinical condition of generalized abdominal pain, weight loss of approximately 20 kg, abdominal distention, melena, hematemesis, and asthenia. Physical examination revealed a distended abdomen and palpation revealed epigastric and mesogastric hardening and left colonic frame. The abdominal tomography revealed a tumor mass with an infiltrative appearance of apparent gastric origin, with extragastric growth and infiltration of the spleen, pancreas, mesenteric root, greater omentum, transverse colon, thin intestinal loops, and infiltration in the hepatic hilum, and liver metastases. Moreover, the condition was related to the severe acute respiratory syndrome type 2 coronavirus (SARS-CoV-2). An ultrasound-guided percutaneous biopsy was performed in the left upper quadrant and histology reported a GIST. In this article medical condition, diagnosis, and treatment of the Giant extraintestinal gastrointestinal stromal, is reviewed.

Caracterización clínica, histológica y endoscópica del cáncer gástrico en el Hospital de Especialidades Dr. Abel Gilbert Pontón, Ecuador / Clinical, histological, and endoscopic characterization of gastric cancer at the Hospital de Especialidades Dr. Abel Gilbert Pontón, Ecuador

Resumen Introducción: El cáncer gástrico, a nivel mundial, tiene una incidencia variable y es una de las causas más frecuentes de muerte. En Ecuador ocupa el segundo lugar de muerte en los hombres y la cuarta en las mujeres por cáncer gástrico. Objetivos: Establecer las características sociodemográficas, clínicas, histológicas y endoscópicas, y determinar una correlación entre la localización e histología en una población de pacientes con cáncer gástrico en el Hospital de Especialidades de Guayaquil, Dr. Abel Gilbert Pontón. Materiales y métodos: Estudio de prevalencia analítico y prospectivo. Se incluyeron las endoscopias digestivas altas de consulta externa y emergencia con signos de sospecha de cáncer gástrico realizadas en el Hospital de Especialidades de Guayaquil, Dr. Abel Gilbert Pontón, Ecuador, entre enero de 2018 y diciembre de 2019. Resultados: En el estudio se incluyeron 62 pacientes con diagnóstico de adenocarcinoma gástrico, el sexo masculino representó el 72,6 % en relación con el sexo femenino, con el 27,4 %; el rango de edad fue entre los 27 y 95 años, el promedio de edad es de 60,96 ± 15,1 y la edad de mayor presentación fue de 60 a 70 años. El síntoma que predominó fue el dolor, en un 98,4 %, y la pérdida de peso, en un 64,5 %; su localización más frecuente fue el antro (50,0 %), su morfología de mayor presentación es el Borrmann tipo III y, con respecto al tipo histológico, se encontró el tipo intestinal (64,5 %) y el difuso (29,0 %). El tipo intestinal se presentó en edad más avanzada en un 60 %-69 %, fue más frecuente en el cuerpo (71,4 %) y su localización fue más proximal, en comparación con el tipo difuso, que se presentó más en edad temprana (27-39 años), fue más frecuente en el antro (32,3 %) y su localización fue más distal. Conclusiones: El cáncer gástrico se diagnostica en estadios avanzados, más en hombres que en mujeres y se puede afirmar que en nuestro hospital la localización del cáncer gástrico tipo intestinal se presentó en edades avanzadas, más frecuentemente a nivel proximal y en la clasificación del cáncer gástrico avanzado Borrmann tipo III, lo cual podría tener influencia en el tratamiento y pronóstico. Además, los resultados obtenidos justifican la implementación de programas de detección oportuna y tratamiento de esta grave enfermedad.

Abstract Introduction: Gastric cancer is one of the most common causes of death worldwide, with a varying incidence. In Ecuador, it is the second leading cause of death in men and the fourth in women. Objectives: To establish the socio-demographic, clinical, histological, and endoscopic characteristics of patients with gastric cancer and to determine the correlation between location and histology in this population treated at the Hospital de Especialidades Guayaquil Dr. Abel Gilbert Pontón. Materials and methods: Analytical and prospective prevalence study. Outpatient and emergency upper gastrointestinal endoscopies with signs of suspected gastric cancer performed at the Hospital de Especialidades Guayaquil Dr. Abel Gilbert Pontón - Ecuador between January 2018 through December 2019 were included. Results: The study included 62 patients diagnosed with gastric adenocarcinoma. 72.6% were male and 27.4% were female; the age range was between 27 and 95 years, with an average of 60.96 ± 15.1 years, the age of onset being between 60 and 70 years. Pain was the most frequent symptom in 98.4% of cases, followed by weight loss in 64.5%. The antrum was the most common site of cancer (50.0%), and Borrmann type III was the most common morphology. Intestinal cancer was found in 64.5% of cases, while diffuse gastric cancer was found in 29.0%. Intestinal cancer was more common in older ages (60-69%) and the most frequent site of presentation was the body of the stomach (71.4%) with a proximal location. In contrast, diffuse gastric cancer was more frequent in younger patients aged between 27-39 years, more often in the antrum (32.3%) at a more distal location. Conclusions: Gastric cancer is more often found in men and is usually diagnosed in advanced stages. Intestinal gastric cancer was most commonly seen at advanced ages in our hospital, most frequently at the proximal site and in the Borrmann type III according to the classification of advanced gastric cancer, affecting its treatment and prognosis. The results obtained support the implementation of programs to diagnose and treat this severe disease in a timely manner.

Inquérito soroepidemiológico do lentivírus caprino e perfil das criações de caprinos na região do Baixo Médio São Francisco (BA) / Seroepidemiological survey of caprine arthritis encephalitis and profile of goat breeding systems in the region of Baixo Médio São Francisco (BA)

This work aimed to determine the serological prevalence of caprine artrithis encephalitis (CAE) in the microregion of Juazeiro, in the state of Bahia, using the technique of agar gel immunodiffusion (AGID) to characterize the farming systems of the region. We collected 693 blood serum samples of goats from 46 farms in 8 different locations belonging to the municipalities forming the microregion (Campo Alegre de Lourdes, Casa Nova, Curaçá, Juazeiro, Pilão Arcado, Remanso, and Sobradinho). During the visits, a questionnaire was applied emphasizing information related to health management. All of the visited properties had extensive breeding systems, with predominance of mixed breed animals, low productivity and low technology rate, aiming mainly to use the meat. The main diseases reported were caseous lymphadenitis, diarrhea, ectoparasites and keratoconjunctivitis. Concerning seroprevalence, 0.29% (2/693) of samples tested positive for AGID. The positive animals belonged to the same property in the municipality of Curaçá, which showed 12.5% (1/8) of positive properties, in contrast to 2.17% (1/46) of total seroprevalence in the other visited properties. These results therefore suggest the need for new epidemiological surveys in the region, especially at a time when the importation of animals for genetic improvement is taking place.

Este trabalho teve como finalidade verificar a prevalência sorológica da lentivirose caprina (LVC) na microrregião de Juazeiro, na Bahia, por meio da técnica de imunodifusão em gel de agar (IDGA), bem como caracterizar os sistemas de criação da região. Para tal, foram avaliadas 693 amostras de soros sanguíneos de caprinos de 46 propriedades rurais em diferentes localidades, pertencentes aos 8 municípios formadores da microrregião (Campo Alegre de Lourdes, Casa Nova, Curaçá, Juazeiro, Pilão Arcado, Remanso, Sento Sé e Sobradinho). Na realização das visitas, aplicou-se um questionário com ênfase nas informações referentes ao manejo sanitário. Das propriedades visitadas, todas apresentavam sistema de criação extensivo, com predomínio de animais sem raça definida, baixa produtividade e baixo índice de tecnificação, visando principalmente à obtenção de carne. As principais enfermidades relatadas foram linfadenite caseosa, diarreias, ectoparasitoses e ceratoconjuntivite. Quanto à soroprevalência, 0,29% (2/693) das amostras apresentaram sorologia positiva para a LVC. Os animais positivos pertenciam à mesma propriedade, no município de Curaçá, que apresentou 12,5% (1/8) de propriedades positivas, contrastando com 2,17% (1/46) de soroprevalência total dos rebanhos visitados. Estes resultados sugerem, portanto, a necessidade da efetivação de medidas preventivas na região, principalmente [...]