Primary hyperoxaluria is a rare autosomal recessive disorder. Type 1 PH is the most common form and develops due to a defect in a liver specific enzyme the alanine aminotransferase enzyme. As a result of the enzyme deficiency, there is an overproduction of oxalate and excessive urinary excretion. Recurrent urolithiasis and nephrocalcinosis are the most important findings of the disorder and often at the beginning end-stage renal disease develops. This report presents a case backed up by literature of a patient with end stage renal failure and erythropoietin-resistant anaemia whose bone marrow biopsy showed crystal deposition which received delayed diagnosis of oxalosis.
IntroductionAcute abdominal pain is one of the most common complaints of patients presenting to emergency departments (EDs) and it constitutes approximately 5%-10% of ED admissions. Biliary tract disease (BTD) has a significant proportion among patients admitted with acute abdominal pain and is found in approximately 3%-10% of patients hospitalized for acute abdominal pain (1-3). Patients with BTD may present with epigastric pain as often as right upper quadrant pain. Nausea, vomiting, abdominal distention, belching, chills, shivering, and acid regurgitation may accompany it (1,4).Since upper gastrointestinal diseases (GIDs) (i.e. reflux esophagitis, gastritis, peptic ulcer disease, and pancreatitis) may present with symptoms similar to cholelithiasis, the differential diagnosis of BTD may be challenging for emergency physicians. Infectious diseases such as acute appendicitis, pyelonephritis, hepatitis, and pneumonia may be confused with acute cholecystitis (1). Furthermore, myocardial ischemia, renal diseases, and some disorders of Background/aim: The aim of our study was to emphasize the importance of routine bedside biliary ultrasonography (USG) for the differential diagnosis of biliary tract disorders in patients admitted with acute isolated epigastric pain. Materials and methods:Adult patients who were admitted to the emergency department with acute isolated epigastric pain were included in the study. Emergency residents (ERs) were asked whether they planned to perform biliary USG during the initial evaluation and following diagnosis/treatment (secondary evaluation) of these patients. Bedside biliary USG examinations were performed by a sonologist and a radiologist evaluated the video recordings.Results: A total of 103 patients were enrolled, 29 of whom were diagnosed with biliary tract disease (BTD). In the 29 patients diagnosed with BTD, 27 had gallstones (biliary colic, 18; acute cholecystitis, 7; acute pancreatitis, 2) and two had biliary sludge. USG was not ordered by the ERs for 44.8% of the 29 patients with a final diagnosis of BTD, 58.8% of 17 patients with normal liver function tests and BTD, and 35.3% of the 17 hospitalized patients. Conclusion:Emergency physicians should routinely use biliary USG along with clinical judgement and laboratory studies in order to rule out BTD in patients with acute isolated epigastric pain.
Background. Invasive lobular carcinomas (ILC) account for 10–15% of all breast cancers and are the second most common histological form of breast cancer. They usually show a discohesive pattern of single cell infiltration, tend to be multifocal, and the tumor may not be accompanied by a stromal reaction. Because of these histological features, which are not common in other breast tumors, radiological detection of the tumor may be difficult, and its pathological evaluation in terms of size and spread is often problematic. The SSO-ASTRO guideline defines the negative surgical margin in breast-conserving surgeries as the absence of tumor detection on the ink. However, surgical margin assessment in invasive lobular carcinomas has not been much discussed from the pathological perspective. Methods. The study included 79 cases diagnosed with invasive lobular carcinoma by a Tru-cut biopsy where operated in our center between 2014 and 2021. Clinicopathological characteristics of the cases, results of an intraoperative frozen evaluation in cases that underwent conservative surgery, the necessity of re-excision and complementary mastectomy, and consistency in radiological and pathological response evaluation in cases receiving neoadjuvant treatment were questioned. Results. The tumor was multifocal in 37 (46.8%) cases and single tumor focus in 42 (53.2%) cases. When the entire patient population was evaluated, regardless of focality, mastectomy was performed in 27 patients (34.2%) and breast-conserving surgery (BCS) was performed in 52 patients (65.8%). Of the 52 patients who underwent BCS, 26 (50%) required an additional surgical procedure (cavity revision or completion mastectomy). There is a statistical relationship between tumor size and additional surgical intervention ( p < 0.05 ). BCS was performed in 7 of 12 patients who were operated on after neoadjuvant treatment, but all of them were reoperated with the same or a second session and turned to mastectomy. Neoadjuvant treatment and the need for reoperation were statistically significant ( p < 0.05 ). Additional surgical procedures were performed in 20 (44.4%) of 45 patients in BCS cases who did not receive neoadjuvant therapy. Conclusions. Diagnostic difficulties in the intraoperative frozen evaluation of invasive lobular carcinoma are due to the different histopathological patterns of the ILC. In our study, it was determined that large tumor size and neoadjuvant therapy increased the need for additional surgical procedures. It is thought that the pathological perspective is the determining factor in order to minimize the negative effects such as unsuccessful cosmesis, an additional surgical burden on the patient, and cost increase that may occur with additional surgical procedures; for this reason, new approaches should be discussed in the treatment planning of invasive lobular carcinoma cases.
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