Total tumor load assessed by one-step nucleic acid amplification assay as an intraoperative predictor for non-sentinel lymph node metastasis in breast cancer.

BACKGROUND: This study aimed to determine the relationship between CK19 mRNA copy number in sentinel lymph nodes (SLN) assessed by one-step nucleic acid amplification (OSNA) technique, and non-sentinel lymph nodes (NSLN) metastization in invasive breast cancer. A model using total tumor load (TTL) obtained by OSNA technique was also constructed to evaluate its predictability. METHODS: We conducted an observational retrospective study including 598 patients with clinically T1-T3 and node negative invasive breast cancer. Of the 88 patients with positive SLN, 58 patients fulfill the inclusion criteria. RESULTS: In the analyzed group 25.86% had at least one positive NSLN in axillary lymph node dissection. Univariate analysis showed that tumor size, TTL and number of SLN macrometastases were predictive factors for NSLN metastases. In multivariate analysis just the TTL was predictive for positive NSLN (OR 2.67; 95% CI 1.06-6.70; P = 0.036). The ROC curve for the model using TTL alone was obtained and an AUC of 0.805 (95% CI 0.69-0.92) was achieved. For TTL >1.9 × 105 copies/µL we got 73.3% sensitivity, 74.4% specificity and 88.9% negative predictive value to predict NSLN metastases. CONCLUSION: When using OSNA technique to evaluate SLN, NSLN metastases can be predicted intraoperatively. This prediction tool could help in decision for axillary lymph node dissection.

Adenocarcinoma of the ileum: A rare and challenging entity.

INTRODUCTION: Primary small bowel malignancy is unusual and accounts for 1-3% of all gastrointestinal tract neoplasms. Adenocarcinoma is one of the most common histologic types, but its frequency decreases with more distal locations. Its clinical presentation is nonspecific and is usually associated with advanced disease, which contributes to delayed diagnosis. PRESENTATION OF CASE: A 66-year-old woman was admitted to the hospital with a 6-day history of progressively worsening abdominal pain localized in the right lower quadrant, nausea, and vomiting. Investigation revealed an inflammatory appendiceal tumor. The patient underwent surgery and an unexpected tumor involving the distal ileal segment and ileocecal appendix was found. Right radical hemicolectomy with en bloc resection of the distal ileum was performed. Histopathological examination revealed adenocarcinoma of the ileum. DISCUSSION: This rare entity is associated with a nonspecific clinical presentation that contributes to delayed diagnosis and treatment, and consequently to a worse prognosis. Approximately half of the cases are only diagnosed at surgery. Primary treatment consists of wide resection with locoregional lymphadenectomy. The role of adjuvant chemotherapy has yet to be determined. CONCLUSION: This case demonstrates an unusual condition characterized by late and challenging diagnosis. We highlight the importance of an earlier diagnosis and optimal treatment for improved patient outcomes.

Association of intestinal malrotation and Bochdalek hernia in an adult: a case report.

BACKGROUND: Late presentations of congenital diaphragmatic hernia are rare and differ from the classic neonatal presentation. The association with other congenital malformations in children, mainly intestinal malrotation, is well documented. The diagnosis of this association in adults is very rare, and depends on a high degree of suspicion. CASE PRESENTATION: We report a case of a 50-year-old female Caucasian patient with a previous history of intestinal malrotation diagnosed in adolescence and treated conservatively. She was referred to the hospital with signs and symptoms of intestinal obstruction. The patient undertook computed tomography that confirmed small bowel obstruction with no obvious cause, and a right subphrenic abscess with right empyema was also present. An exploratory laparotomy was performed that revealed an intestinal malrotation associated with a right gangrenous and perforated Bochdalek hernia. Resection of the affected small bowel, closure of the Bochdalek foramen and the Ladd procedure were carried out. CONCLUSION: This case shows a rare association of two rare conditions in adults, and highlights the challenge in reaching the diagnosis and management options.

Gastric outlet obstruction in a patient with Bouveret's syndrome: a case report.

BACKGROUND: Gallstone ileus accounts for 1% to 4% of cases of mechanical bowel obstruction, but may be responsible for up to 25% of cases in older age groups. In non-iatrogenic cases, gallstone migration occurs after formation of a biliary-enteric fistula. In fewer than 10% of patients with gallstone ileus, the impacted gallstones are located in the pylorus or duodenum, resulting in gastric outlet obstruction, known as Bouveret's syndrome. CASE PRESENTATION: We report an 86-year-old female who was admitted to hospital with a 10-day history of persistent vomiting and prostration. She was in hypovolemic shock at the time of arrival in the emergency department. Investigations revealed a gallstone in the duodenal bulb and a cholecystoduodenal fistula. She underwent surgical gastrolithotomy. Unfortunately, she died of aspiration pneumonia on the fourth postoperative day. CONCLUSION: This case shows the importance of considering Bouveret's syndrome in the differential diagnosis of gastric outlet obstruction, especially in the elderly, even in patients with no previous history of gallbladder disease.

[Diabetic retinopathy and associated conditions, what relationship? A study in Portuguese patients with type 2 diabetes]. / Retinopatia diabética e condições associadas, que relação? Um estudo em doentes com diabetes mellitus tipo 2.

BACKGROUND AND AIMS: Diabetic retinopathy is the leading cause of blindness in adults in Western countries. There are few studies about this microvascular complication in the Portuguese population. The aim of the present study is to establish the relationship between diabetic retinopathy, risk factors and associated conditions, in a group of patients with type 2 diabetes mellitus. MATERIAL AND METHODS: We performed a descriptive, transversal and case-control study that included 874 patients - 437 with and 437 without diabetic retinopathy, respectively. Data were collected from electronic medical records, in the Portuguese Diabetes Association with a first consult of Diabetology. RESULTS: The group with retinopathy had significantly higher values of HbA1c, systolic blood pressure and years of diagnosis, compared with the group without retinopathy (p<0.05). Regarding the levels of HbA1c, both groups showed more than 70% of patients outside the target value (HbA1c>6.5%) but in the subgroup with retinopathy, the percentage of patients in these conditions was higher (91.3%) compared to control group (73.2%) (p<0.05). The prevalence of hypertension in the sample was 73%. It was found that the group with retinopathy had a significantly higher prevalence of hypertensive patients (79.6% versus 66.4%) (p<0.05). The prevalence of nephropathy was higher in the group with retinopathy (35.6% versus 0.8%) (p<0.05). CONCLUSION: There is a positive correlation between retinopathy and hypertension, glycaemic control and nephropathy. Thus, it is extremely important to control blood pressure and to educate patients about the benefits of a good glycaemic level.