Accurate Diagnosis
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Ana Coto-Montes ◽  
Laura González-Blanco ◽  
Eduardo Antuña ◽  
Iván Menéndez-Valle ◽  
Juan Carlos Bermejo-Millo ◽  

Biomarkers are essential tools for accurate diagnosis and effective prevention, but their validation is a pending challenge that limits their usefulness, even more so with constructs as complex as frailty. Sarcopenia shares multiple mechanisms with frailty which makes it a strong candidate to provide robust frailty biomarkers. Based on this premise, we studied the temporal evolution of cellular interactome in frailty, from independent patients to dependent ones. Overweight is a recognized cause of frailty in aging, so we studied the altered mechanisms in overweight independent elderly and evaluated their aggravation in dependent elderly. This evidence of the evolution of previously altered mechanisms would significantly support their role as real biomarkers of frailty. The results showed a preponderant role of autophagy in interactome control at both different functional points, modulating other essential mechanisms in the cell, such as mitochondrial capacity or oxidative stress. Thus, the overweight provoked in the muscle of the elderly an overload of autophagy that kept cell survival in apparently healthy individuals. This excessive and permanent autophagic effort did not seem to be able to be maintained over time. Indeed, in dependent elderly, the muscle showed a total autophagic inactivity, with devastating effects on the survival of the cell, which showed clear signs of apoptosis, and reduced functional capacity. The frail elderly are in a situation of weakness that is a precursor of dependence that can still be prevented if detection is early. Hence biomarkers are essential in this context.

2021 ◽  
Vol 12 ◽  
Paola Ruffo ◽  
Claudia Strafella ◽  
Raffaella Cascella ◽  
Valerio Caputo ◽  
Francesca Luisa Conforti ◽  

Parallel and massive sequencing of total RNA samples derived from different samples are possible thanks to the use of NGS (Next Generation Sequencing) technologies. This allowed characterizing the transcriptomic profile of both cell and tissue populations, increasing the knowledge of the molecular pathological processes of complex diseases, such as neurodegenerative diseases (NDs). Among the NDs, Amyotrophic Lateral Sclerosis (ALS) is caused by the progressive loss of motor neurons (MNs), and, to date, the diagnosis is often made by exclusion because there is no specific symptomatologic picture. For this reason, it is important to search for biomarkers that are clinically useful for carrying out a fast and accurate diagnosis of ALS. Thanks to various studies, it has been possible to propose several molecular mechanisms associated with the disease, some of which include the action of non-coding RNA, including circRNAs, miRNAs, and lncRNAs which will be discussed in the present review. The evidence analyzed in this review highlights the importance of conducting studies to better characterize the different ncRNAs in the disease to use them as possible diagnostic, prognostic, and/or predictive biomarkers of ALS and other NDs.

Gooya Tayyebi ◽  
Seyed Kazem Malakouti ◽  
Behnam Shariati ◽  
Leila Kamalzadeh

Background: Accurate diagnosis and management of patients with rapidly progressive dementia may be challenging during the COVID-19 pandemic, which has negatively influenced the diagnostic performances, medical resource allocation and routine care for all non-COVID-19 diseases. Case Presentation: We herein present a case of a 57‐year‐old male with rapidly progressive cognitive decline, headache, diplopia, myalgia, unsteady gait, aggression, depression, insomnia, hallucinations and delusions of persecution. COVID-19-associated encephalitis was briefly considered as a differential diagnosis. However, this hypothesis was rejected upon further investigation. A final diagnosis of sporadic Creutzfeldt–Jakob disease was made. Conclusion: A timely and accurate diagnosis of Creutzfeldt–Jakob disease gives patients and their families the chance to receive a good standard of healthcare and avoid extensive evaluations for other conditions.

2021 ◽  
Vol 12 (12) ◽  
pp. 133-139
Ashumi Gupta ◽  
Neelam Jain

Background: Ovarian cancer forms a significant proportion of cancer-related mortality in females. It is often detected late due to non-specific clinical presentation. Radiology and tumor markers may indicate an ovarian mass. However, exact diagnosis requires pathological evaluation, which may not be possible before surgery. Intraoperative frozen section (FS) is, therefore, an important modality for the diagnosis of ovarian masses. Aims and Objectives: This study was conducted to study step-by-step approach along with diagnostic utility and accuracy of intraoperative FS in diagnosis of ovarian masses. Materials and Methods: Retrospective comparative analysis was done to determine the diagnostic accuracy of FS as compared to routine histopathology in the pathology department of a tertiary care hospital. Diagnostic categorization was done into benign, borderline, and malignant. Overall accuracy, sensitivity, and specificity of FS technique were calculated. Results: Out of 51 cases, FS analysis yielded accurate diagnosis in 94.1% of ovarian masses. Intraoperative FS had a sensitivity of 94.7%, specificity of 96.9%, 3.1% false-positive rate, and 5.3% false-negative rate in malignant tumors. In benign lesions, FS had 91.7% sensitivity and 100% specificity. FS had 75% sensitivity and 96.4% specificity in cases of borderline tumors. Conclusion: FS is a fairly accurate technique for intraoperative evaluation of ovarian masses. It can help in deciding the extent of surgery. It distinguishes benign and malignant tumors in most cases with high sensitivity and specificity. A methodical approach is useful in determining accurate diagnosis on FS diagnosis.

2021 ◽  
Vol 96 (6) ◽  
pp. 484-492
Young Sang Lyu ◽  
Jin Hwa Kim ◽  
Sang Yong Kim

Hypoglycemia is common but can lead to life-threatening consequences. Accurate diagnosis is important to establish the appropriate treatment strategy. Most cases of hypoglycemia are caused by hypoglycemic agents, although it can occur in individuals without diabetes. A systemic and comprehensive diagnostic approach is required to diagnose hypoglycemia in patients without diabetes. It is important to perform appropriate blood testing during an episode of hypoglycemia. This review will focus on the definition, differential diagnosis, causes, and treatment of hypoglycemia, particularly in people without diabetes.

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2243
Adyb Adrian Khal ◽  
Razvan Catalin Mihu ◽  
Calin Schiau ◽  
Bogdan Fetica ◽  
Gheorghe Tomoaia ◽  

Intraosseous lipomas are rare bone lesions that can affect any part of the skeleton. In the calcaneum, they are, generally, asymptomatic, but in some cases, patients may complain of pain, swelling or tenderness. Well-conducted radiography and MRI examinations can lead to an accurate diagnosis. In most cases, patients could benefit from conservative means of treatment, but in long-lasting symptomatic cases, surgical treatment may be a good option. The purpose of this article is to increase clinicians’ awareness of this lesion as a possible cause of heel pain and to describe a case of a symptomatic intraosseous lipoma of the calcaneum who underwent curettage and bone cement filling after failure of conservative treatment.

2021 ◽  
Vol 6 (2) ◽  
pp. 43-49
Young Jung Kim ◽  
Joung-Ho Han

Pancreatic cystic lesions (PCLs) are being identified increasingly because of recent advancements in abdominal imaging technologies, presenting a number of challenges in clinical practice. Although most PCLs are benign, some carry a significant risk of malignant degeneration. Accurate diagnosis of PCLs is important for proper management and follow-up. Endoscopic ultrasound (EUS) is useful for the characterization of PCLs with high sensitivity and accuracy. Additional information can be obtained using EUS for indeterminate lesions on computed tomography or magnetic resonance imaging. In this review, we introduce the relevant EUS findings for the diagnosis of relatively common PCLs.

2021 ◽  
Vol 6 (4) ◽  
pp. 203
Luisa Carnino ◽  
Jean-Marc Schwob ◽  
Laurent Gétaz ◽  
Beatrice Nickel ◽  
Andreas Neumayr ◽  

Strongyloides stercoralis, causative agent of a neglected tropical disease, is a soil-transmitted helminth which may cause lifelong persisting infection due to continuous autoinfection. In the case of immunosuppression, life-threatening hyperinfection and disseminated strongyloidiasis can develop. We propose a pragmatic screening algorithm for latent strongyloidiasis based on epidemiologic exposure and immunosuppression status that can be applied for any kind of immunosuppressive therapy. The algorithm allows the diagnosis of latent strongyloidiasis with optimal accuracy in a well-equipped setting, while for endemic settings where the complete testing array is unavailable, an empiric treatment is generally recommended. Accurate diagnosis and extensive empiric treatment will both contribute to decreasing the current neglect of strongyloidiasis.

Emmanuel Kobina Mesi Edzie ◽  
Klenam Dzefi-Tettey ◽  
Edmund Kwakye Brakohiapa ◽  
Philip Narteh Gorleku ◽  
Frank Naku Ghartey ◽  

Abstract Background Unilateral lower limb swelling has wide differential diagnoses with varying treatment plans, requiring an early and accurate diagnosis. Doppler ultrasound offers an extensive examination of the vascular system providing a platform for diagnosis and avoidance of unnecessary invasive procedures. Thus, it becomes pertinent to ensure that all the sonographic information required for the accurate diagnosis of a swollen lower limb is documented and critically analyzed in our setting, hence this study. Results The records of a total of 151 patients with acute unilateral lower limb swelling were retrieved, females constituted the majority (51.7%). The overall mean age was 58.70 ± 16.71 years. Statistical significance was specified at p ≤ 0.05 for this study. The males were on the average 1.86 years younger than the female, but this difference was not statistically significant (p = 0.495). Patients older than 60 years constituted the majority 72 (47.7%) followed by the 40–60-year age category 61 (40.4%), and the left lower limb was affected more often 82 (54.3%). Multiple inguinal lymphadenopathy 82 (35.7%) and edema with thickened skin and subcutaneous layers 67 (29.1%) were the two most recurrent ultrasound features. There was no significant association between the sonographic features and the diagnoses made for acute unilateral lower limb swelling, except for the feature of edema with thickened skin and subcutaneous layers (p = 0.004) and the diagnosis of cellulitis (p = 0.047) that increased significantly with age. Conclusion Multiple inguinal lymphadenopathy and edema of the skin and subcutaneous layers were the most recurrent ultrasound features with cellulitis as the main diagnosis for acute unilateral lower limb swelling in our setting. Edema with thickened skin and subcutaneous layers and cellulitis both increased significantly with age. Sonographers, sonologists, and radiologists must be on the look-out for these in their practices.

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