Novel Heterozygous Missense Variants in Diacylglycerol Kinase Epsilon and Complement Factor I: Potential Pathogenic Association With Atypical Hemolytic Uremic Syndrome.

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy (TMA), which copresents with microangiopathic hemolytic anemia, thrombocytopenia, and kidney injury. While typical HUS is normally preceded by infections such as Shiga-toxin-producing Escherichia coli, atypical HUS (aHUS) has a genetic component that leads to dysregulation of the alternative complement pathway. We report a case of a 69-year-old female who developed aHUS after undergoing an elective knee surgery. Genetic testing revealed novel mutations affecting diacylglycerol kinase epsilon (DGKE) protein and complement factor I (CFI) that were not reported before as pathogenic. The patient was treated with eculizumab, leading to the complete resolution of TMA with no lasting organ damage.

Safety Profile of Mutant EGFR-TK Inhibitors in Advanced Non-Small Cell Lung Cancer: A Meta-analysis.

Background: Despite the use of platinum-based chemotherapy, lung cancer continues to be the leading cause of cancer-related death in the world. To overcome the rate of lung cancer-related death, scientists discovered advanced therapies, including mutant epidermal growth factor receptor-tyrosine kinase (EGFR-TK) inhibitors. Observations: We conducted a meta-analysis to determine the safety profile of mutant EGFR-TK inhibitors in the management of advanced non-small cell lung cancer (NSCLC). Included in this study are 9 phase 3 randomized controlled trials designed to study the safety profile of mutant EGFR-TK inhibitors in patients with advanced NSCLC. The study showed that mutant EGFR-TK inhibitors have an incidence of adverse effects that is less reported when compared with platinum-based chemotherapy. Conclusions: We recommend continuing using mutant EGFR-TK inhibitors in patients with advanced NSCLC especially in patients having mutant EGFR receptors. Adverse effects caused by mutant EGFR-TK inhibitors are significant but are usually tolerable and can be avoided by reducing the dosage of it with each cycle or by skipping or delaying the dose until patient is symptomatic.

Hereditary Thrombophilia Testing Among Hospitalized Patients: Is It Warranted?

Background Hereditary thrombophilias (HTs) are a group of inherited disorders that predispose the carrier to venous thromboembolism (VTE). It is estimated that 7% of the population has some form of HT. Although testing for HT has become routine for many hospitalized patients, knowing when to order the tests and how to interpret the results remains challenging. In the United States, there are no clear guidelines regarding testing for HT. We conducted a study to evaluate the utilization of HT testing among hospitalized patients to examine its impact on immediate management decisions and overall cost burden. In addition, we discuss the common reasons for healthcare providers to order these tests and review the data behind these reasons in the literature. Methodology A retrospective analysis of 2,402 patients who underwent HT testing between February 1, 2016, and January 31, 2018, was conducted. Eligible patients had at least one HT test ordered during hospitalization. The primary outcome was to determine the incidence of positive actionable tests. A positive actionable test was defined as a positive result that changed the anticoagulation intensity, type, or duration. Patients with a history of previous VTE, ongoing medical conditions requiring life-long anticoagulation, or unprovoked VTE were considered non-actionable. Results Among the 2,402 patients, 954 patients met the inclusion criteria with a mean age of 54 years. A total of 397 (41.6%) tests were ordered for acute VTE, while the rest were for non-VTE conditions, such as stroke, pregnancy complications, peripheral artery diseases, and others. Only 89 positive tests were actionable (14% of the positive tests, and 9.3% of the total ordered tests). There was a statistically significant association between increasing age and having both a positive test result (p = 0.006) and an actionable test (p = 0.046). The total cost of ordering these tests was estimated to be $566,585. Conclusions HT testing in the inpatient setting did not alter management in many cases and was associated with increased healthcare costs. The decision to order these tests should be individualized based on the clinical scenario.

Maxillary Osteomyelitis with an Incidental Diagnosis of Maxillary Diffuse Large B-Cell Lymphoma: A Case Report.

Raoultella planticola osteomyelitis is rarely reported in the literature. The most likely source in our case is the oral microbiome secondary to the tooth extraction. Herein we present a case of Raoultella planticola osteomyelitis of the jaw that leads to the diagnosis of diffuse large B-cell lymphoma (DLBCL) of the jaw. A 75-year-old male with no significant medical history, presented to the emergency department with right upper jaw pain after he had a tooth extraction a week before his presentation. Computed tomography (CT) scan of the face showed concerns of right maxillary osteomyelitis with soft tissue swelling and prominent cervical lymph nodes. He underwent a bone biopsy of the maxilla and was started on intravenous ampicillin-sulbactam. His bone culture grew pan-sensitive Raoultella planticola. in addition to that, his bone biopsy revealed diffuse large B-cell lymphoma of the jaw. The patient underwent staging imaging, and he was found to have metastasis to the liver. He was started on chemotherapy and had a good response. In conclusion, Raoultella planticola osteomyelitis is extremely rare. The diagnosis of maxillary DLBCL can be a challenge. Fortunately, our patient had an infection at the same site that led to the diagnosis of DLBCL.

Isolated Renal Metastasis from Primary Lung Squamous Cell Carcinoma with Synchronous Small Cell Lung Cancer.

Synchronous multiple primary lung cancer is a unique type of lung carcinomas that are diagnosed with more than two different pathological types in the same or different lung lobes. Isolated metastasis to the kidney is considered rare. Herein, we present a case of a 58-year-old male with a history of chronic obstructive pulmonary disease (COPD) and 40 pack-year of cigarette smoking, who was diagnosed with synchronous small cell lung cancer (SCLC) and squamous cell carcinoma (SCC) with isolated metastasis to the kidney. Isolated kidney metastasis from lung cancer is an infrequent finding; it should be considered when the patient is diagnosed with lung cancer. In the absence of disseminated disease and contraindications, nephrectomy is an option for treatment with chemotherapy or as a palliative measure if the patient is symptomatic.

Hepatocellular Carcinoma with Tumor Thrombus Extending from the Portal Vein to the Right Atrium.

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Tumor thrombus formation in advanced HCC stages is common and usually involves the hepatic or portal veins. The formation of tumor thrombus is considered a poor prognostic factor. Herein, we report a rare case wherein the thrombus extended to the inferior vena cava (IVC) reaching the right atrium without affecting the hemodynamic status. This is a 59-year-old male who presented with melena. He was found to have grade 3 esophageal varices with findings suggestive of recent bleeding associated with a large amount of blood in the gastric body that required banding. Computed tomography (CT) of the abdomen and pelvis showed multiple liver masses with an intraluminal IVC mass extending from the hepatic vein into the right atrium. A CT scan of the chest confirmed the presence of a tumor thrombus in the IVC extending to the right atrium. The patient declines surgical intervention and he was discharged. Unfortunately, he passed after a short period of time. In conclusion, tumor thrombus formation is common in HCC. However, expansion of the thrombus to IVC and right atrium is rare and indicates poor prognosis.

Acute Appendicitis and Small Bowel Obstruction Secondary to Metastatic Breast Cancer.

Breast cancer is the most common cancer in women; it is well-known to metastasize to lymph nodes, lungs, liver, brain, and bones. However, luminal gastrointestinal metastasis is rare, especially to the appendix. Herein, we report a case where cancer metastasized to the ileum and appendix, causing acute appendicitis and small bowel obstruction. This is a 44-year-old female with a history of stage IV metastatic breast cancer to bones, lungs, and ovaries, presented with acute abdominal pain for one day. Her abdomen was soft, distended with generalized tenderness. Computed tomography (CT) of the abdomen and pelvis showed a partial small bowel obstruction and swollen appendix. After her symptoms worsened on conservative treatment, she was taken to the operating room where she was found to have a markedly dilated ileum with signs of acute appendicitis, so she underwent ileocecectomy, appendectomy, and lysis of adhesions. Pathology showed metastatic breast cancer in the appendix with findings consistent with acute appendicitis. She tolerated surgery well without complications. In conclusion, small intestinal and appendiceal metastases of breast cancer are very rare though they should be considered in the differential diagnosis in cancer patients presenting with acute abdominal pain.

A Case of Prostate Cancer Presenting with Rash.

Mixed cryoglobulinemia (MC) is well known for its association with chronic hepatitis C virus (HCV) infection. However, it has also been linked to autoimmune disorders and hematological malignancies, particularly of B-cell lymphoid origin. Association with solid malignancies is poorly described in the literature. Non-HCV-related MC, in the setting of prostate cancer, has been reported only twice. Here, we describe a case of MC in a prostate cancer patient complicated by membranoproliferative glomerulonephritis (MPGN) that responded well to plasma exchange therapy and treatment with both corticosteroids and rituximab.

Posterior reversible encephalopathy syndrome while receiving irinotecan with fluorouracil and folinic acid for metastatic gastric cancer.

Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiographic syndrome with seizures, headache, altered mental status and visual disturbances. It is typically associated with posterior cerebral white matter oedema on neuroimaging. There is an increasing number of cases of PRES reported with different chemotherapeutic protocols. However, PRES is rarely reported in association with irinotecan, fluorouracil and folinic acid (FOLFIRI). We report a 28-year-old female patient with a history of Stage IV gastric cancer who presented with abdominal pain and recurrent vomiting that was thought to be related to a partial intestinal obstruction secondary to peritoneal metastasis. Eventually, she was treated with FOLFIRI. A few hours after initiation of the fluorouracil infusion in the second cycle, she developed a tonic-clonic seizure. MRI of the brain showed multiple bilateral T 2 and flair hyperintense cortical and subcortical lesions suggestive of PRES. Other causes of PRES were excluded, as well as brain metastasis. Unfortunately, the patient developed septic shock and died a few days after her presentation.