A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours.

BACKGROUND: Although most gastrointestinal stromal tumours (GIST) carry oncogenic mutations in KIT exons 9, 11, 13 and 17, or in platelet-derived growth factor receptor alpha (PDGFRA) exons 12, 14 and 18, around 10% of GIST are free of these mutations. Genotyping and accurate detection of KIT/PDGFRA mutations in GIST are becoming increasingly useful for clinicians in the management of the disease. METHOD: To evaluate and improve laboratory practice in GIST mutation detection, we developed a mutational screening quality control program. Eleven laboratories were enrolled in this program and 50 DNA samples were analysed, each of them by four different laboratories, giving 200 mutational reports. RESULTS: In total, eight mutations were not detected by at least one laboratory. One false positive result was reported in one sample. Thus, the mean global rate of error with clinical implication based on 200 reports was 4.5%. Concerning specific polymorphisms detection, the rate varied from 0 to 100%, depending on the laboratory. The way mutations were reported was very heterogeneous, and some errors were detected. CONCLUSION: This study demonstrated that such a program was necessary for laboratories to improve the quality of the analysis, because an error rate of 4.5% may have clinical consequences for the patient.

In vitro efficacy of selected medicinal plants from Cholistan desert, Pakistan, against gastrointestinal helminths of sheep and goats

Gastrointestinal helminths are a major constraint to small ruminants in extensive husbandry systems of tropical regions. Yet, unavailability, high prices, side effects, and development of parasite resistance often limit the use of synthetic anthelmintics. Traditional medicinal plants might be an effective low-cost alternative. Therefore the in vitro anthelmintic activity of leaf extracts of the ligneous plants Capparis decidua, Salsola foetida, Suaeda fruticosa, Haloxylon salicornicum, and Haloxylon recurvum from Cholistan, Pakistan, was investigated against adult worms of Haemonchus contortus, Trichuris ovis, and Paramphistomum cervi. Various concentrations (from 7.8 to 500 mg dry matter ml^(−1)) of three extracts (aqueous, methanol, and aqueous-methanol) of each plant were tested at different time intervals for their anthelmintic activity via adult motility assay. Plant species (p<=0.01), extract type (p<=0.001), parasite species (p<=0.001), extract concentration (p<=0.001), time of exposure (p<=0.001) and their interactions (p<=0.001) affected the number of immobile or dead helminths. The 50% lethal concentration (LC_(50)) values indicated that the methanol and aqueous-methanol extracts of C. decidua, H. recurvum, and H. salicornicum as well as the methanol extract of S. fruticosa have the potential to be developed into plant-based remedies against the studied helminths. Further studies are needed to investigate the in vivo anthelmintic activity of these extracts, in order to develop effective, cheap and locally available anthelmintics for pastoralists in Cholistan and neighbouring desert regions.

Rendimiento de la canal y morfometría del tracto gastrointestinal de broilers suplementados con pared celular de levadura

Se realizó un experimento para evaluar el efecto de la suplementación de pollos de engorde con un derivado de paredes celulares de levadura Saccharomyces cerevisiae (PCL-glucano) de producción nacional sobre el rendimiento de la canal y la morfometría del tracto gastrointestinal. Se utilizaron 210 pollitos mixtos Cobb 500 de un día de edad, que fueron distribuidos en un diseño completamente al azar en tres tratamientos, con siete repeticiones y 10 aves por repetición. Los tratamientos evaluados fueron: T1: concentrado comercial (CC), T2: CC + 0.05% PCL-Glucano y T3: CC + 0.10% PCL-Glucano. A los 42 días de edad, los animales se pesaron y sacrificaron por dislocación de la articulación cráneo-cervical y se procedió a la extracción completa y cuidadosa del tracto gastrointestinal y la medición del peso absoluto y relativo de los órganos con respecto al peso corporal (expresados como % del peso vivo). Los resultados muestran que los mayores (p<0.05%) pesos absolutos y relativos de la molleja (67.9 g y 3.4%), hígado (76.9 g y 3.8%) e intestino delgado (88.4 g y 4.4%), a los 42 días de edad, se obtienen en los pollos alimentados con la dieta CC + 0.10% PCL-Glucano, lo que puede propiciar un mayor aprovechamiento de los nutrientes presentes en el alimento, contribuyendo al mejoramiento en los indicadores productivos de las aves (peso vivo, peso de la canal y rendimiento de la canal)

Effect of portal hypertension in the small bowel: an endoscopic approach

BACKGROUND AND AIM: The effects of portal hypertension in the small bowel are largely unknown. The aim of the study was to prospectively assess portal hypertension manifestations in the small bowel. METHODS: We compared, by performing enteroscopy with capsule endoscopy, the endoscopic findings of 36 patients with portal hypertension, 25 cirrhotic and 11 non-cirrhotic, with 30 controls. RESULTS: Varices, defined as distended, tortuous, or saccular veins, and areas of mucosa with a reticulate pattern were significantly more frequent in patients with PTH. These two findings were detected in 26 of the 66 patients (39%), 25 from the group with PTH (69%) and one from the control group (3%) (P < 0.0001). Among the 25 patients with PTH exhibiting these patterns, 17 were cirrhotic and 8 were non-cirrhotic (P = 0.551). The presence of these endoscopic changes was not related to age, gender, presence of cirrhosis, esophageal or gastric varices, portal hypertensive gastropathy, portal hypertensive colopathy, prior esophageal endoscopic treatment, current administration of beta-blockers, or Child-Pugh Class C. More patients with these endoscopic patterns had a previous history of acute digestive bleeding (72% vs. 36%) (P = 0.05). Active bleeding was found in two patients (5.5%). CONCLUSIONS: The presence of varices or areas of mucosa with a reticulate pattern are manifestations of portal hypertension in the small bowel, found in both cirrhotic and non-cirrhotic patients. The clinical implications of these findings, as regards digestive bleeding, are uncertain, although we documented acute bleeding from the small bowel in two patients (5.5%).

Effect of time and diet change on the bacterial community structure throughout the gastrointestinal tract and in faeces of the northern brown bandicoot, Isoodon macrourus

A significant gap, in not only peramelid nutritional physiology but marsupial nutrition as a whole, is the lack of information relating to microorganisms of the gastrointestinal tract. This research is a preliminary investigation that will provide a baseline for comparisons among peramelids. The high degree of 16S rRNA gene clones identified in this research that are closely related to culturable bacteria suggests that additional research will enable a more complete description of the gastrointestinal bacteria of I. macrourus. Most identifiable clones belonged to Clostridium and Ruminococcus. This research has confirmed that the hindgut of I. macrourus, the caecum, proximal colon and distal colon, are the main sites for microbial activity.

Delayed Bleeding after Percutaneous Liver Biopsy

Percutaneous liver biopsy (PLB) is a common procedure in patients with liver disease. Bleeding after PLB is rare, with an incidence of 0.35%. Most bleeding complications present within 24 h after biopsy. A 56-year-old woman was admitted to our hospital due to severe and sudden right upper quadrant (RUQ) abdominal pain 10 days after ultrasound (US)-guided PLB. CT study revealed both intrahepatic and intraperitoneal bleeding, and Hb levels decreased by 3.2 g/dl within a few hours. Such a prolonged delay in PLB-related bleeding has not been previously described in the medical literature.

Evaluation of alpha-synuclein immunohistochemical methods for the detection of Lewy-type synucleinopathy in gastrointestinal biopsies

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Sensitivity and specificity of the Gastrointestinal Short Form Questionnaire in diagnosis of gastroesophageal reflux disease

Introduction: Gastrointestinal Short Form Questionnaire (GSFQ) is a questionnaire for gastroesophageal reflux disease (GERD) diagnosis, with a version in Spanish language, not yet compared to an objective test. Aims: To establish GSFQ diagnostic performance against 24-hour pH monitoring carried out in two tertiary care hospitals. Methods: Consecutive adult patients with typical GERD symptoms (heartburn, regurgitation) referred for pH monitoring fulfilled the GSFQ (score range 0-30, proportional to probability of GERD). Diagnosis of GERD was established when acid exposure time in distal esophagus was superior to 4.5% or symptom association probability was greater than 95%. Receiver-operator characteristic (ROC) curves were calculated and best cut-off score determined, with corresponding sensitivity, specificity and likelihood ratios (LR) (95% confidence interval for each). Results: One hundred and fifty-two patients were included (59.9% women, age 47.9 ± 13.9; 97.4% heartburn; 71.3% regurgitation). pH monitoring was abnormal in 65.8%. Mean GSFQ score was 11.2 ± 6. Area under ROC was 56.5% (47.0-65.9%). Optimal cut-off score was 13 or greater: sensitivity 40% (30.3-50.3%), specificity 71.2% (56.9-82.9%), positive LR 1.39 (0.85-2.26) and negative LR 0.84 (0.67-1.07). Exclusion of questions 1 and 3 of the original GSFQ, easily interpreted as referred to dyspepsia and not GERD, improved only marginally the diagnostic performance: AUROC 59.1%. Conclusion: The GSFQ does not predict results of pH monitoring in patients with typical symptoms in a tertiary care setting.

Importancia de la nutrición perioperatoria en pacientes sometidos a cirugía gastrointestinal mayor electiva en el Hospital General del Instituto Salvadoreño del Seguro Social en el periodo de enero a diciembre del 2013 version 2.0

Desde el inicio de los estudios acerca de la nutrición perioperatoria en pacientes sometidos a cirugía gastrointestinal mayor, ya sea por patología benigna o maligna; se evidenció un vínculo entre la malnutrición y su asociación a las complicaciones trans y posquirúrgicas, es por eso que se realiza este estudio con el fin de determinar la relación coexistente entre un mal estado nutricional y las complicaciones postquirúrgicas. Materiales y métodos: se realizó un estudio analítico no aleatorio. La población en estudio fueron los pacientes con cirugías mayores gastrointestinales electivas del Hospital General del Instituto Salvadoreño del Seguro Social de enero – diciembre 2013, se realizaron 133 cirugías de las cuales solo 49 fueron incluidas, estudiadas con intervalo de confianza de 99% y error muestral de 0.01. Resultados: Se obtuvo una frecuencia de 11 casos de complicaciones postquirúrgicas de los 49 casos, entre las cuales se encuentran 3 casos con fugas de anastomosis, 2 dehiscencias de herida operatoria, 2 sangrados y/o hematomas, 2 complicaciones médicas, 1 infección de sitio quirúrgico y 1 caso de disrupción transquirúrgica de la vía biliar. De estos casos 6 presentaban hipoalbuminemia, 7 presentaban recuento bajo de linfocitos; 8 presentaban una valoración global subjetiva subóptima. Discusión: en este estudio se puede inferir que debe haber un protocolo de manejo nutricional del paciente sometido a cirugía gastrointestinal mayor electiva y así poder desde el inicio del manejo de paciente, tratar integralmente desde el punto de vista nutricional. Así como estadificar el estado nutricional, y apoyarse con datos bioquímicos de laboratorio que confirmen una buena nutrición antes de ser sometido a este tipo de cirugías. Esto con el afán de cumplir los estándares nutricionales internacionales.

Alterações da sinalização purinérgica gastrointestinal na Diabetes

A dismotilidade entérica é uma complicação a longo prazo da Diabetes mellitus (DM) que causa desconforto significativo em 76% dos pacientes diabéticos. Sabendo que as purinas estão envolvidas na neuromodulação colinérgica e que no SNC de animais diabéticos foram encontradas alterações na expressão de recetores purinérgicos, decidimos investigar se na dismotilidade diabética a neuromodulação purinérgica se encontra preservada. O modelo animal escolhido de diabetes tipo I resultou da administração de estreptozotocina (STZ, 55 mg/kg, IP) a ratazanas (Rattus norvegicus, Wistar). Este modelo STZ provou ser adequado para o estudo, apresentando 2 semanas após a indução polidipsia, poliúria, polifagia, hiperglicemia e um atraso da motilidade gastrointestinal. A caraterização morfológica macroscópica dos animais STZ revelou um aumento significativo do cego e do intestino. Funcionalmente, estudos preliminares indicam que as contrações espontâneas do íleo dos animais STZ perdem ritmicidade e apresentam maior amplitude que as dos animais controlo de uma forma insensível à TTX, sugerindo o comprometimento das ICC. Paralelamente, estudos imagiológicos revelaram uma perda neuronal mioentérica, principalmente de neurónios nitrérgicos, sendo os colinérgicos preservados. Contudo, a resposta muscular do íleo de animais diabéticos à acetilcolina (ACh) foi inferior à dos controlos, estando a libertação de ACh modulada pela adenosina modificada. Verificou-se que a inibição promovida pelos recetores A1 se mantinha, mas que se perdia a facilitação mediada pela ativação de recetores A2A, cuja imunorreatividade também se encontrava diminuída. Curiosamente, apesar do catabolismo do ATP e dos seus metabolitos estar aumentado nos animais STZ, não se verificou um aumento dos níveis extracelulares de adenosina. Nos animais diabéticos a adenosina é rapidamente desaminada e recaptada por transportadores de nucleósidos, com principal relevância para os concentrativos, sendo os equilibrativos responsáveis pelo transporte da adenosina em animais controlo. Os resultados apresentados nesta tese sugerem que a dismotilidade diabética pode dever-se à perda da atividade nitrérgica, das ICC e da neuromodulação purinérgica mediada por recetores A2A, comprometendo assim a libertação de ACh e consequentemente a motilidade GI.

Ovarian sertoli-leydig cell tumour with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alphafetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrineinactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker.

Endoscopic band ligation without resection in selected patients for small and superficial upper gastrointestinal tract lesions

Background and aim: The aim of this study was to evaluate the efficacy of endoscopic band ligation (EBL) in carefully selected patients who would benefit from this method of resection. Methods: Patients with early upper gastrointestinal and small (< 15 mm) lesions treated with EBL (Duette® Multi-Band Mucosectomy) were prospectively recruited and retrospectively analyzed between 2010 and 2015. All cases were discussed in a multidisciplinary cancer committee and it was concluded that, owing to patient conditions, surgery was not possible and that not conducting histology would not change the clinical management. A first endoscopic control with biopsies was planned at 4-8 weeks. If there was no persistence of the lesion, new controls were programmed at 6 and 12 months. Results: The group (n = 12) included 5 esophagus lesions (adenosquamous carcinoma, n = 1; carcinoma squamous, n = 2; adenocarcinoma, n = 2); 4 gastric lesions (high grade dysplasia, n = 1; adenocarcinoma, n = 2; neuroendocrine tumor [NET], n = 1), and 3 duodenal lesions (NETs) (n = 3). The mean tumor diameter was 9.6 ± 2.8 mm (range 4-15). Only one minor adverse event was described. At first follow-up (4-8 weeks), there was 91.6% and 75% of endoscopic and histological remission, respectively. At 6-month follow-up there was 70% of both endoscopic remission and negative biopsies. And at 12 months, there was 100% and 75% of endoscopic and histological remission, respectively. Persisting lesions were T1 cancers. The median follow-up was 30.6 months. Conclusion: EBL without resection is an easy and safe technique that should be considered in patients with multiple morbidities and small superficial UGI lesions.