Emad D. Singer

Metastatic spinal cord compression (MSCC) is a serious medical emergency that can complicate the course of various malignancies, including prostate, breast, and lung cancers. Appropriate evaluation and effective management of MSCC early in the emergency department are necessary to minimize neurologic deterioration and optimize the trajectory of patient recovery. This literature review examines and summarizes current evidence surrounding the emergency department approach for timely recognition, initial evaluation, and management of MSCC. A comprehensive clinical history, nerve root or spinal cord clinical examination, and urgent imaging procedures are fundamental for early diagnosis and initial management. The urgency of intervention depends on the rate of onset of motor deficits, which can progress during work-up. Patients should be stratified into subgroups: those requiring immediate surgery, those who can be treated with radiotherapy, and those who may be discharged for outpatient care. Some patients can be observed for 24 h to adjust the medical and/or surgical treatment. In most cases, systemic steroid administration with dexamethasone should be started immediately upon diagnosis, followed by a tapering course of oral dexamethasone. Selected patients should undergo surgical decompression with or without stabilization. A multidisciplinary approach involving both spinal surgeons and radiation oncologists is essential for diagnosis and stratification. For patients with MSCC, early and effective evaluation and intervention in the emergency department, through a coordinated multidisciplinary effort, are vital to optimizing patient outcomes.

Background. DEPDC5 (disheveled, Egl-10 and pleckstrin domain-containing protein 5) familial epilepsy syndrome is a group of epilepsy disorders caused by mutations in DEPDC5 gene, which is a part of the gap activity towards rag 1 (GATOR1) complex involved in regulating the mechanism target of rapamycin (mTOR) pathway. These mutations lead to hyperactivation of the mTOR pathway, disrupting the shaping of neurons and resulting in increased excitatory transmission and the development of epilepsy. The incidence and prevalence of DEPDC5 familial epilepsy syndrome are not well established, but studies suggest it may account for up to 10% of familial focal epilepsy cases. Genetic testing, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) are important in diagnosing the disorder, although normal MRI results are common.Objective: to explain the rare sporadic mutation in DEPDC5 gene with p.R389H, a variant of unknown significance.Case report. A 6-year-old South-Asian girl was born at 34-weeks from non-consanguineous marriage without any prenatal events. She had hyperbilirubinemia by week-1, which was successfully treated with phototherapy. Her initial seizure occurred when she was three months old, just 2 days after the fever from the vaccination had subsided. It was considered a simple-febrile seizure and no treatment was given. At 3.5-months, she started having recurrent seizures. Workup including MRI/ infectious/metabolic panel was non-conclusive. EEG during the initial presentation showed epileptiform activity from the left temporal region. Despite being on multiple anti-epileptic drugs, the child was diagnosed with refractory epilepsy. Subsequently, EEG at 2.5-years showed inter-ictal bi-hemispheric epileptiform activity. EEG at 5-years showed inter-ictal spikes and wave discharges from bilateral fronto-temporal region with secondary generalization. By 3-years, MRI showed mildly deformed corpus callosum with inadequate thickening of splenium. DNA analysis confirmed heterozygous missense mutation in exon 16 of DEPDC5 gene, without chromosomal abnormalities. Mother was heterozygous for the same mutation but no mutations in the father was found. The child has grossly delayed milestones. Corrected age is approximately 1-year for fine motor and language, 1.5-years for gross motor, 2.5-years for cognition, social skills. She had developed autistic features as well with significant impaired auditory/visual processing. She had hypotonia (Right>Left), wide-based gait, and extrapyramidal movements.Conclusion. DEPDC5 gene mutation results in amino acid substitution of Histidine for Arginine at codon 389. This mutation has shown to be inherited in familial pattern. This R389H variant is not present in the 1000 genomes database and is predicted to be benign. However, It rather appears to be a sporadic mutation, which is a very rarely observed phenomena. Such patients may respond well to mTOR inhibitors such as rapamycin, making prompt diagnosis and treatment crucial.

Background: Following tumor resection, imaging recommendation for the follow-up of patients with intrahepatic cholangiocarcinoma (IHCCA) include frequent chest, abdomen and pelvis computed tomography (CT) imaging. The appropriateness of additional imaging studies is usually derived from their clinical utility. The purpose of this work is to determine the value of chest CT imaging in the follow-up of patients with IHCCA. Methods: Data review of radiology reports of baseline post-operative chest, abdominal, and pelvic CT imaging reports following the resection of IHCCA, and of subsequent follow-up exams. The radiology findings were stratified as intrathoracic metastasis only, combined intra-thoracic and intraabdominal metastasis, intra-abdominal metastases without intrathoracic involvement. We assessed the prevalence of intra-thoracic disease progression in comparison to other groups. Descriptive statistical analysis was carried out using John’s Macintosh Project (JMP) statistical software. Results: Eighty-seven patients were included in the study, 6 patients were found to have disease progression in the chest without corresponding disease progression in the abdomen on follow-up CT, accounting for 6.9% of the total. Only four patients had disease progression in the chest with a normal CT chest at baseline (4.6%). Conclusions: The use of short-interval chest CT for surveillance in IHCCA has limited utility, particularly in patients with disease-free abdominal studies.

Brain metastases (BMs) are the most prevalent type of cerebral tumor, significantly affecting survival. In adults, lung cancer, breast cancer, and melanoma are the primary cancers associated with BMs. Symptoms often result from brain compression, and patients may present to the emergency department (ED) with life-threatening conditions. The goal of treatment of BMs is to maximize survival and quality of life by choosing the least toxic therapy. Surgical resection followed by cavity radiation or definitive stereotactic radiosurgery remains the standard approach, depending on the patient’s condition. Conversely, whole brain radiation therapy is becoming more limited to cases with multiple inoperable BMs and is less frequently used for postoperative control. BMs often signal advanced systemic disease, and patients usually present to the ED with poorly controlled symptoms, justifying hospitalization. Over half of patients with BMs in the ED are admitted, making effective ED-based management a challenge. This article reviews the epidemiology, clinical manifestations, and current treatment options of patients with BMs. Additionally, it provides an overview of ED management and highlights the challenges faced in this setting. An improved understanding of the reasons for potentially avoidable hospitalizations in cancer patients with BMs is needed and could help emergency physicians distinguish patients who can be safely discharged from those who require observation or hospitalization.

Renal bleeding: imaging and interventions in patients with tumors - Diagnostic and Interventional Radiology

Hemoptysis in cancer patients can occur for various reasons, including infections, tumors, blood vessel abnormalities and inflammatory conditions. The degree of hemoptysis is commonly classified according to the quantity of blood expelled. However, volume-based definitions may not accurately reflect the clinical impact of bleeding. This review explores a more comprehensive approach to evaluating hemoptysis by considering its risk factors, epidemiology and clinical consequences. In particular, this review provides insight into the risk factors, identifies mortality rates associated with hemoptysis in cancer patients and highlights the need for developing a mortality prediction score specific for cancer patients. The use of hemoptysis-related variables may help stratify patients into risk categories; optimize the control of bleeding with critical care; implement the use of tracheobronchial or vascular interventions; and aid in treatment planning. Effective management of hemoptysis in cancer patients must address the underlying cause while also providing supportive care to improve patients’ quality of life.