Colonoscopy findings in high-risk individuals compared to an average-risk control population.

BACKGROUND AND AIMS: There is clear evidence of reduced morbidity and mortality from regular colonoscopy programs in patients with Lynch syndrome (LS). Today, also individuals with empirically increased risks of colorectal cancer (CRC) are offered colonoscopic surveillance. The aim was to compare the findings at the first screening colonoscopy in LS carriers, and individuals with an increased risk of bowel cancer due to family history of CRC with a control population. METHODS: Altogether 1397 individuals with an increased risk for CRC were divided in four risk groups: one with LS carriers and three groups with individuals with different family history of CRC. The findings were compared between the different risk groups and a control group consisting of 745 individuals from a control population who took part in a population-based colonoscopy study. RESULTS: In LS, 30% of the individuals had adenomas and 10% advanced adenomas. The corresponding figures in the other risk groups were 14-24% and 4-7%, compared with 10% and 3% in the control group. The relative risk of having adenomas and advanced adenomas was, compared to controls, significantly higher for all risk groups except the group with the lowest risk. Age was a strong predictor for adenomas and advanced adenomas in both risk individuals and controls. CONCLUSIONS: Individuals with a family history of CRC have a high prevalence and cumulative risk of adenomas and advanced adenomas, and screening is motivated also in this risk group.

Maspin, a Marker of Serrated Colorectal Polyps.

The serine proteinase inhibitor maspin is a tumor-suppressor protein that stimulates apoptosis and inhibits motility, invasion and cancer metastasis. Mutant maspin galvanises partial loss of tumor-suppressor function, reducing susceptibility to apoptosis and facilitating malignant progression. Mutant maspin has been reported in many tumor types. We recently analyzed maspin expression in 128 colorectal lesions: 39 hyperplastic polyps (HPs), 29 sessile serrated adenoma/polyps (SSA/Ps), three traditional serrated adenomas (TSAs), 20 conventional colorectal adenomas (CCRAs), 5 carcinomas evolving from CCRA, 12 active inflammatory bowel disease (IBD), 2 ulcerative colitis (UC) in remission, 4 solitary ulcers (rectum) and 12 normal colorectal mucosa. The topographic distribution of maspin in the cytoplasm was classified into i) extensive, ii) focal, or iii) negative. The intensity of maspin expression in the cytoplasm was classified into i) unquestionable or ii) negative. Cases with faint (questionable) maspin expression were also recorded as negative. Extensive maspin expression was recorded in 95% (39/41) of the HPs, in 100% (29/29) of the SSA/Ps (including one carcinoma arising in a SSA/P), in 66% (2/3) of the TSAs, but only in 10% (2/20) of the CCRAs. None of the specimens with carcinoma arising in CCRA, with UC in remission or with solitary ulcer exhibited extensive maspin expression. Importantly, maspin was not expressed in the normal mucosa (including that adjacent to HP, SSA/P, TSA and CCRA). It is submitted that extensive maspin expression might be a manifestation of mutant maspin in lesions central to the serrated pathway of colorectal carcinogenesis.

Predicting Outcome in Colonoscopic High-risk Surveillance.

AIM: Surveillance with colonoscopy in risk groups for colorectal cancer needs to be based on an adequate selection of individuals to examine and a well-devised timing. To stratify the risk of finding neoplasia at colonoscopy, a cohort with increased familial risk of colorectal cancer was studied. PATIENTS AND METHODS: Based on family history, 1,203 individuals with at least two-fold increased risk of colorectal cancer were offered regular colonoscopies. The impact of different variables in the family history was assessed by logistic regression for the prevalence of adenoma and advanced adenoma. Findings at first colonoscopy were assessed regarding the association with risk of future lesions. RESULTS: The prevalence of advanced lesions, when controlling for age, was associated with the number of first-degree relatives with colorectal cancer, with an age below 50 years for the youngest family member with colorectal cancer, but not with gender. Family history had a low impact on the prevalence of simple adenoma. The risk of future advanced lesions was only associated with the prevalence of advanced lesions at the screening colonoscopy, whereas a finding of subsequent adenoma was associated with advanced lesions, adenomas and hyperplastic polyps. CONCLUSION: Adenomas and advanced lesions were not associated with the same risk factors. In the present study, the most important risk factors for advanced lesions, including cancer, were the number of first-degree relatives and a young family member with colorectal cancer. Findings of simple adenomas and hyperplastic polyps did not seem to be associated with subsequent advanced lesions.

Tratamiento de fractura subtrocantérica multifragmentaria de alta energía en niño mediante osteosíntesis con placa de reconstrucción. Reporte de caso / Treatment of a high-energy multifragmentary subtrochanteric fracture in a child using osteosynthesis with a reconstruction plate. Case report

El objetivo del estudio es dar a conocer el uso del método de osteosíntesis mediante placa de reconstrucción moldeada para tratar fracturas subtrocantéricas pediátricas. Se trató a un paciente pediátrico de 7años de edad con el diagnóstico de fractura subtrocantérica de trazo multifragmentario producto de un trauma de alta energía. Fue intervenido mediante osteosíntesis con una placa 4,5 convencional moldeada colocada mediante técnica mínimamente invasiva. El modelo de la fijación derivó del propuesto por Moustafa. Se realizó planificación preoperatoria, tratamiento quirúrgico y seguimiento clínico y radiológico por consulta externa cada 2semanas hasta apreciar consolidación clínica y radiológica. Además, se registró si existió o no dolor, acortamiento patológico, pérdida de reducción o aparición de alguna complicación. Se logró obtener consolidación clínica y radiológica completa al cabo de 6semanas, dolor mínimo, no existió acortamiento residual de la extremidad, no existió pérdida de reducción y tampoco se dieron complicaciones. El método propuesto podría llegar a ser la mejor alternativa para tratar este grupo específico de pacientes en los que el antecedente de la lesión por alta energía y la característica del trazo fracturario pueden derivar en resultados subóptimos con otras técnicas.

The aim of this study is to present the use of the osteosynthesis method using a moolded reconstruction plate to treat paediatric subtrochanteric fractures. The case concerns a 7year-old paediatric patient with the diagnosis of a multifragmented tracer subtrochanteric fracture resulting from a high-energy trauma. Osteosynthesis was performed using a conventional 4.5 moulded plate using minimally invasive surgery. The fixation model used was the one proposed by Moustafa. Pre-operative planning, surgical treatment, and clinical and radiological follow-up were performed in the outpatient clinics every 2weeks until clinical and radiological consolidation. In addition, it was recorded whether or not there was pain, pathological shortening, loss of reduction or appearance of complication. It has been possible to obtain complete medical and radiological attention after 6weeks, minimal pain, there was no residual shortening of the limb, there was no loss of reduction and no complications occurred. The method may be the best alternative to treat this specific group of patients in whom the antecedent of high energy injury and the characteristic of the fracture tract may result in suboptimal results with other techniques.

Advanced microtubular colorectal adenomas: a 10-year survey at a single hospital.

BACKGROUND: Colorectal carcinoma, the third most commonly diagnosed type of cancer in Europe and the USA, usually originates from colorectal adenoma (CRA). Three main histological phenotypes of CRA are usually recognized: tubular, villous and traditional serrated (TA, VA and TSA, respectively). In 1997, we reported a novel histological phenotype, the microtubular adenoma (MTA), epitomized by dysplastic epithelium arranged in closed rings (microtubules), with sideways-elongated outgrowth. MATERIALS AND METHODS: The material includes 4,446 CRAs diagnosed at our Department during a 10-year period (2001-2010). RESULTS: Out of 4,446 CRAs, 68 (1.5%) were MTA; of these, 38 (55.9%) exhibited low-grade dysplasia (LGD), 17 (25.0%), high-grade-dysplasia, two (2.9%) intraepithelial carcinoma and three (4.4%), intramucosal carcinoma. Out of the 68 MTA, 22 (32.3%) were advanced MTA. Submucosal carcinoma (SMC) was present in eight (11.8%) MTAs. Ninety-four per cent (64/68) of the MTAs were left-sided adenomas. In previous work, we found that cell proliferation occurred in the dysplastic microtubules in MTA, initially in the luminal dysplastic epithelium in TA and VA, and initially at the bottom of the serrated dysplastic crypts in TSA. CONCLUSION: Due to these distinctive microscopic and cell proliferative attributes, a predominant left-sided location and the absence of serrated configurations, it is submitted that MTA is a specific CRA phenotype, at variance with TA, VA, and TSA. The high frequency of SMC strongly suggests that MTA is an important alternative pathway in colorectal carcinogenesis.

Antralization of the gastric mucosa of the incisura angularis and its gastrin expression.

The frequency of antrum-type mucosa and gastrin expression in gastric biopsies from the incisura angularis was assessed in 60 consecutive patients having gastrointestinal symptoms. Following the recommendations from the updated Sydney System for the classification and grading of gastritis, two biopsies were taken from the antrum, one from the incisura and two from the corpus. Sections were stained with H&E, Giemsa and for gastrin. Gastrin-positive cells were semi-quantified as: 0 (none), /=50 gastrin-labelled cells/40x field. Antrum-type mucosa at the incisura (called antralization) occurred in 30% of the biopsies without inflammation, but in 69% of those with H. pylori-induced gastritis, and in 64% of those with autoimmune gastritis. At the incisura, gastrin-labelled cells (>/=10) were found in 62% (18/29) of biopsies showing antralization, but in only 20% (3/15) of those having transitional-type mucosa (p<0.05) and in none of the 16 biopsies having fundic-type mucosa. The similarity in gastrin expression between the mucosa of the gastric antrum and the antral-type mucosa at the incisura substantiates the notion that antralization is a metaplastic transformation. The significantly higher frequency of antral-type mucosa at the incisura in patients with gastritis than in those without gastritis strongly suggests that chronic inflammation per se triggers antralization of the incisura, irrespective of the presence or absence of H. pylori infection.

Detection of intestinal metaplasia in distal esophagus and esophagogastric junction by enhanced-magnification endoscopy.

BACKGROUND: Standard videoendoscopy identifies columnar-lined esophagus but cannot distinguish intestinal metaplasia from other types of epithelium. Enhanced-magnification endoscopy identifies different mucosal pit patterns. A preliminary study suggested that a type 3 pattern is associated with the presence of intestinal metaplasia. This study assesses the value of enhanced-magnification endoscopy for the detection of intestinal metaplasia in the distal esophagus and esophagogastric junction in patients undergoing diagnostic EGD. METHODS: Patients undergoing diagnostic endoscopy for upper-GI symptoms underwent enhanced-magnification endoscopy after instillation of 1.5% acetic acid. The enhanced-magnification endoscopy mucosal pattern was classified into 3 types: 1, normal pits; 2, slit-reticular pattern; and 3, gyrus-villous pattern. Preliminary studies indicated that the type 3 pattern was related to intestinal metaplasia. One to 6 biopsies were targeted to areas having a type 3 pattern in columnar-appearing mucosa in the distal esophagus or esophagogastric junction. In the absence of type 3 pattern, one to 8 biopsies were targeted to areas with a type 2 pattern in columnar-appearing mucosa in the distal esophagus or esophagogastric junction. RESULTS: The overall frequency of intestinal metaplasia in the esophagus and esophagogastric junction was 38.8% (26/67 patients). There was a good correlation between the type 3 pattern and intestinal metaplasia in targeted biopsy specimens (sensitivity 88.5%, specificity 90.2%, positive predictive value 85.2%, negative predictive value 92.5%, overall accuracy 90.0%). CONCLUSIONS: Enhanced-magnification endoscopy is useful for detection of intestinal metaplasia in distal esophagus and esophagogastric junction.

Biopsia aspiración con aguja fina (BACAF) en el diagnóstico de endometriosis / Fine-needle aspiration biopsy (FNAB) for the diagnosis of endometriosis

La Biopsia por Aspiración con Aguja Fina (BACAF) es el método de elección en el diagnóstico de nódulos tiroideos, mamarios, ganglios linfáticos y glándulas salivares. En piel y tejidos blandos ha sido utilizada con poca frecuencia. Presentamos dos casos de endometriosis extrapélvica, localizada en tejidos blandos y pared abdominal. Se trata de dos mujeres con nódulos dolorosos en la pared abdominal y sobre cicatriz de cirugía ginecológica. El diagnóstico se confirmó en una de las pacientes con biopsia excisional, otra recibió tratamiento médico.

Fine-Needle Aspiration Biopsy is the method of choice for the diagnosis of thyroid, breast, lymph and salivary glands nodules; nevertheless, it’s use has been poor regarding sking and soft tissues evaluation. In the following paper, the authors present two cases of extrapelvic endometriosis, located on soft tissues and abdominal wall, in two women with tender nodes on abdominal wall and over a gyneacologic surgery scar. Diagnosis was confirmed on one of the patients via excisional biopsy; the other one underwent medical management.

Distinct chromosomal imbalances in nonpolypoid and polypoid colorectal adenomas indicate different genetic pathways in the development of colorectal neoplasms.

Cytogenetic changes are widely unknown for nonpolypoid (synonymously termed as "flat" or "depressed") colorectal adenomas. A comparison with polypoid adenomas will contribute to the discussion whether different genetic pathways for colorectal tumorigenesis depending on its origin from nonpolypoid or polypoid adenomas exist. Tissue samples of nonpolypoid (n = 22), polypoid (n = 28) adenomas, carcinomas ex-nonpolypoid adenomas (n = 9), carcinomas ex-polypoid adenomas (n = 14), and normal colonic mucosa (n = 9) were investigated by comparative genomic hybridization of whole genomic DNA. Chromosomal imbalances were detected from average comparative genomic hybridization profiles for each entity. Nonpolypoid adenomas show recurrent chromosomal losses on chromosomes 16, 17p, 18, 20, and 22 and gains on chromosomes 2q, 4q, 5, 6, 8q, 12q, and 13q. In polypoid adenomas losses of whole chromosomes 16, 18, and 22 and gains of chromosomes 7q and 13 were detected. The frequency of copy number changes was higher in nonpolypoid compared to polypoid adenomas and early onset of chromosomal changes became apparent in low-grade dysplasias of nonpolypoid adenomas. Gains on chromosomes 2q, 5, 6, 8q, and 12q and losses on chromosomes 17p and 20 occurred exclusively in nonpolypoid adenomas, whereas 16p deletions are significantly more frequent in nonpolypoid than in polypoid adenomas. Carcinomas ex-nonpolypoid adenomas are characterized by more complex aberration patterns compared to nonpolypoid adenomas exhibiting frequent losses on chromosomes 8p, 12q, 14, 15q, 16, 17p, 18, and 22 and gains on 3q, 5, 6, 7, 8q, 12q, and 13, respectively. Normal colonic mucosa showed no chromosomal imbalances. Distinct differences of chromosomal imbalances between nonpolypoid and polypoid colorectal adenomas have been characterized that support the hypothesis that different genetic pathways may exist in the development of colorectal adenomas exhibiting nonpolypoid and polypoid phenotype.