emergency diagnosis

The Parkin (PRKN) gene mutation is prevalent in young-onset Parkinson's disease (PD), typically emerging before age 30, accompanied by early motor symptoms. Induced pluripotent stem cells (iPSCs) were derived from peripheral blood mononuclear cells of a PD patient with an exon 3 deletion in PRKN using Sendai-virus reprogramming. PD diagnosis was confirmed via the Unified Parkinson's Disease Rating Scale (UPDRS). Characterization of the iPSC line ensured self-renewal and pluripotency. This resource serves as a valuable platform for drug screening and elucidating the pathophysiology of this mutation, facilitating advancements in PD research...

INTRODUCTION: Dens invaginatus (DI) and Dens evaginatus (DE), the developmental anomalies affecting the morphology of the tooth structure are extremely rare to occur. DI occurs because of invagination of a crown into dental papillae. DE is a tubercular emergence from occlusal surfaces of posterior teeth and lingual surfaces of anterior teeth. The two anomalies on separate teeth are frequently mentioned, but their co-occurrence in a single tooth is a rare entity. PATIENT CONCERNS: A 20-year-old male patient presented with the rare combination of DE and DI on a dilacerated maxillary right lateral incisor diagnosed using cone beam CT...

CONTEXT: Controversial results have emerged regarding whether PCOS is protective or increases the risk of bone frailty. OBJECTIVE: This study investigated whether the PCOS condition affects bone parameters of premenopausal women. This is an update for a previous meta-analysis published in 2019. DATA SOURCES: We searched MEDLINE and Embase. STUDY SELECTION: Studies were considered eligible for the update if published in English between the 1st of October 2018 and the 31st of December 2023...

INTRODUCTION: Infectious diseases still cause a significant burden of morbidity and mortality among children in low- and middle-income countries (LMICs). There are ample opportunities for innovation in surveillance, prevention, and management, with the ultimate goal of improving survival. AREAS COVERED: This review discusses the current status in the use and development of innovative strategies for pediatric infectious diseases in LMICs by focusing on surveillance, diagnosis, prevention, and management...

Central Nervous System (CNS) disorders represent a profound public health challenge that affects millions of people around the world. Diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), and traumatic brain injury (TBI) exemplify the complexities and diversities that complicate their early detection and the development of effective treatments. Amid these challenges, the emergence of nanotechnology and extracellular vesicles (EVs) signals a new dawn for treating and diagnosing CNS ailments. EVs are cellularly derived lipid bilayer nanosized particles that are pivotal in intercellular communication within the CNS and have the potential to revolutionize targeted therapeutic delivery and the identification of novel biomarkers...

For many cancers, biomarkers have served as an important tool across the cancer care continuum from risk stratification and early detection to diagnosis and treatment. Alpha fetoprotein (AFP) remains one of the few validated biomarkers for patients with hepatocellular carcinoma (HCC). Although AFP has shown potential for each of these steps, its performance when used alone has often been suboptimal. There continues to be discordant recommendations about AFP's value when combined with ultrasound for surveillance as well as its role in diagnostic algorithms...

This case report explores the management of a traumatic hemipelvectomy-a rare and devastating injury characterized by a high mortality rate. The patient, a 12-year-old male, suffered right lower extremity amputation and right hemipelvectomy due to a deglov-ing injury from a non-vehicle-related accident at another institution. Initially, an urgent reconstruction of the right pelvic region and suprapubic tissue defects was performed using a posterior-based fasciocutaneous flap. Following this, the patient was transferred to the pediatric intensive care unit at our hospital with a suspected diagnosis of necrotizing fasciitis...

BACKGROUND: We investigated the utility of specific biomarkers-namely, c-terminal telopeptide (CTX), n-telopeptide (NTX), deoxypyridinoline (DPD), and tartrate-resistant acid phosphatase (TRAP)-compared to conventional diagnostic methods. We hy-pothesized that these novel biomarkers could hold substantial value in the diagnosis, treatment, and monitoring of osteoporosis. METHODS: The study was conducted over a three-year period, from January 1, 2020, to January 1, 2023...

Artificial intelligence (AI) is the branch of science aiming at creating algorithms able to carry out tasks that typically require human intelligence. In medicine, there has been a tremendous increase in AI applications thanks to increasingly powerful computers and the emergence of big data repositories. Multiple sclerosis (MS) is a chronic autoimmune condition affecting the central nervous system with a complex pathogenesis, a challenging diagnostic process strongly relying on magnetic resonance imaging (MRI) and a high and largely unexplained variability across patients...

BACKGROUND: Medical diagnosis in practice connects to research through continuous feedback loops: Studies of diagnosed cases shape our understanding of disease, which shapes future diagnostic practice. Without accounting for an imperfect and complex diagnostic process in which some cases are more likely to be diagnosed correctly (or diagnosed at all), the feedback loop can inadvertently exacerbate future diagnostic errors and biases. FRAMEWORK: A feedback loop failure occurs if misleading evidence about disease etiology encourages systematic errors that self-perpetuate, compromising future diagnoses and patient care...

BACKGROUND: Respiratory syncytial virus (RSV) is a major cause of morbidity and mortality among U.S. infants. A child's calendar birth month determines their age at first exposure(s) to RSV. We estimated birth month-specific risk of medically attended (MA) RSV lower respiratory tract infection (LRTI) among infants during their first RSV season and first year of life. METHODS: We analyzed infants born in the USA between July 2016 and February 2020 using three insurance claims databases (two commercial, one Medicaid)...

BACKGROUND AND OBJECTIVE: Obstructive sleep apnea (OSA) is a common chronic disorder characterized by repeated breathing pauses during sleep caused by upper airway narrowing or collapse. The gold standard for OSA diagnosis is the polysomnography test, which is time consuming, expensive, and invasive. In recent years, more cost-effective approaches for OSA detection based in predictive value of speech and snoring has emerged. In this paper, we offer a comprehensive summary of current research progress on the applications of speech or snoring sounds for the automatic detection of OSA and discuss the key challenges that need to be overcome for future research into this novel approach...

Objective Among the common causes of abdominal emergencies, acute appendicitis ranks at the top, particularly in the young population. While negative appendectomy is not uncommon, the risk of appendicular perforation is substantial if the diagnosis is missed or delayed. This study evaluated the diagnostic efficacy of the Tzanakis scoring system for acute appendicitis, comparing it with the Alvarado scoring system, considering the histopathological finding as the gold standard. Materials and methods This prospective observational study, conducted in the General Surgery department in a tertiary care hospital in India, included clinically diagnosed acute appendicitis cases posted for open or laparoscopic appendicectomy...

Systemic lupus erythematosus (SLE) is a persistent autoimmune disorder that manifests across a spectrum ranging from mild to severe disease, often requiring hospitalization and critical care management. We present a severe case of systemic involvement at its onset. A young woman, with a background of arterial hypertension, presented to the emergency department exhibiting a total anterior circulation stroke and exuberant symmetric lower limb edema. Her condition rapidly deteriorated with neurological impairment, respiratory failure requiring mechanical ventilation, and acute kidney injury prompting her admission to the ICU...

We present the case of a 13-year-old male with sickle cell disease (SCD) who presented to the emergency department with a severe headache secondary to calvarial infarcts with associated epidural and subgaleal hematomas. This case was complicated by external compression of the superior sagittal sinus by the hematomas as seen on magnetic resonance imaging. Management included supportive treatment of pain and swelling. This case emphasizes skull infarctions with associated hematomas as a possible differential diagnosis for patients with SCD presenting with headaches and scalp swellings...

The ventricular migration of vitreous silicone oil (SiO) is rare and can easily be mistaken for intraventricular hemorrhage or a ruptured colloid cyst. We report here the case of an adult male who was misdiagnosed with a ruptured colloid cyst and was subsequently found to have ventricular migration of vitreous SiO. A 57-year-old male presented unresponsive following a respiratory arrest and underwent a head computed tomography (CT) scan that demonstrated multiple ovoid hyperdensities in the ventricular system, which was concerning for a ruptured colloid cyst...

Chronic encapsulated sclerosing peritonitis (CESP) is a very rare cause of intestinal obstruction that has been associated with certain chronic conditions. It is characterized by the thickening of the peritoneum, generating a membrane that covers the intestinal loops and prevents their adequate mobilization. Most cases present as a surgical emergency, leading to a diagnosis during surgery; however, imaging studies can support the pre-surgical diagnosis. Treatment is based on the clinical context of the patient, based on medical management with corticosteroids in a stable patient, or surgical management when it presents as an acute complication...

Testicular myeloid sarcoma (TMS) is a challenging pathology often posing diagnostic difficulties due to the poorly differentiated nature of tumor cells at the initial presentation. The delay in diagnosis significantly impacts patient life expectancy, emphasizing the need for prompt identification and treatment initiation. In certain cases, the presence of the Fms-like tyrosine kinase ( FLT3 ) mutation adds complexity to the disease, requiring tailored therapeutic approaches. In this report, we present a unique case of bilateral TMS with  FLT3  tyrosine kinase domain ( TKD ) mutation...

Pleural effusions can be secondary to several different etiologies. Sometimes, they can be related to hypothyroidism. We present a case of massive pleural effusion resulting from hypothyroidism. A 75-year-old male with a history of liver cirrhosis, hypothyroidism, and medication non-adherence presented to the emergency department (ED) with shortness of breath and altered mental status. Physical exam and chest imaging were consistent with right-sided pleural effusion. Effusion was exudative. Multiple recurrences complicated the hospitalization despite thoracentesis and pleurodesis...

Nasal septal abscess (NSA) is considered a rhinologic emergency. Fortunately, the incidence of NSA has markedly reduced due to the introduction of antibiotics and easy access to medical care. NSA commonly results from infection in the space between the nasal septum and the overlying mucoperichondrium and/or mucoperiosteum, typically secondary to nasal septal hematoma, but it can also be idiopathic. Prompt diagnosis and intervention are critical to avoid further complications. This paper reports the case of a 46-year-old man with no known risk factors for NSA...