288 research outputs found

    Accuracy of smartphone based electrocardiogram for the detection of rhythm abnormalities in limb lead: a cross sectional study, non-randomised, single blinded and single-center study

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    Background: For the identification of arrhythmia and abnormal instances, researchers are examining the reliability of the interpretation offered by smartphone-based portable ECG monitors. The indicator of an unclear alteration in the electrical activity of the heart is a cardiac abnormality. As a result, its early and accurate identification can avoid myocardial infarction and even sudden cardiac death. Objectives of this study were to evaluate and validate the Spandan 12 lead ECG interpretation for accuracy in detection of the cardiac arrhythmias in comparison to the cardiologist diagnosis, and to evaluate the accuracy of the arrhythmia detection of Spandan ECG in comparison to the 12 lead ECG machine. Methods: This cross-sectional study, non-randomised, single blinded and single-center study was carried out at Shri Mahant Indresh Hospital (SMIH), Dehradun, Uttarakhand, India from 1st August 2022 to 31st January 2023. All patients (n=312) visiting the electrocardiogram (ECG) room at the department of cardiology of the SMIH, Dehradun with the prescription of ECG screening during the study period were included in the study were included in the study. Results: In total, 1528 patients with or without a history of cardiovascular disease were enrolled from outpatient and emergency departments of cardiology. A final total of 312 participants considered for accuracy of interpretation of cardiac arrhythmias detected by the standard 12 lead ECG and smartphone ECG in comparison to cardiologists’ diagnosis. Mean age (SD) was 53.90±14.52 years. The male gender (68.78%) showed the maximum frequency than female gender. True Positive cases derived from confusion matrix for 12 lead standard ECG and smartphone ECG in comparison to cardiologist diagnosis was 264 as compared to 273 from 12 lead gold standard. Sensitivity of smartphone Spandan ECG (81.23%) was comparable to gold standard 12 Lead ECG (81.49%). And, specificity, PPV and NPV of smartphone Spandan ECG was recorded to be better than gold standard 12 Lead ECG. Arrhythmia was detected correctly in 403 (70.8%) cases and 431 (61.86%) cases by smartphone ECG and 12 lead gold standards, respectively. Conclusions: Spandan ECG device scored a high accuracy and sensitivity and high specificity. The overall accuracy of smartphone ECG in detecting the rhythm abnormalities increase by 9%, the significance rises in accuracy of computer interpretation when compared to the cardiologist’s diagnosis

    Synthesis and biological activity of α-galactosyl ceramide KRN7000 and galactosyl (α1→2) galactosyl ceramide

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    We herein report a faster and less cumbersome synthesis of the biologically attractive, α-galactosyl ceramide (α-GalCer), known as KRN7000, and its analogues. More importantly, the use of a silicon tethered intramolecular glycosylation reaction gave easy access to the diglycosyl ceramide Gal(α1→2)GalCer, which has been shown to require uptake and processing to the biologically active α-GalCer derivative

    Regulation of CD1 Antigen-presenting Complex Stability

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    For major histocompatibility complex class I and II molecules, the binding of specific peptide antigens is essential for assembly and trafficking and is at the center of their quality control mechanism. However, the role of lipid antigen binding in stabilization and quality control of CD1 heavy chain (HC).beta(2)-microglobulin (beta(2)m) complexes is unclear. Furthermore, the distinct trafficking and loading routes of CD1 proteins take them from mildly acidic pH in early endososmal compartments (pH 6.0) to markedly acidic pH in lysosomes (pH 5.0) and back to neutral pH of the cell surface (pH 7.4). Here, we present evidence that the stability of each CD1 HC.beta(2)m complex is determined by the distinct pH optima identical to that of the intracellular compartments in which each CD1 isoform resides. Although stable at acidic endosomal pH, complexes are only stable at cell surface pH 7.4 when bound to specific lipid antigens. The proposed model outlines a quality control program that allows lipid exchange at low endosomal pH without dissociation of the CD1 HC.beta(2)m complex and then stabilizes the antigen-loaded complex at neutral pH at the cell surface

    Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma

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    Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from the more aggressive adenosquamous carcinoma (ASC) is not straightforward. To assess the diagnostic relevance of MAML2, we examined our 5-year experience in prospective testing of 8106 solid tumors using RNA-seq panel testing in combinations with a two-round Delphi-based scenario survey. The prevalence of MAML2+ across all tumors was 0.28% (n = 23/8106) and the majority of MAML2+ cases were found in head and neck tumors (78.3%), where the overall prevalence was 5.9% (n = 18/307). The sensitivity of MAML2 for MEC was 60% and most cases (80%) were submitted for diagnostic confirmation; in 24% of cases, the MAML2 results changed the working diagnosis. An independent survey of 15 experts showed relative importance indexes of 0.8 and 0.65 for “confirmatory MAML2 testing” in suspected MEC and ASC, respectively. Real-world evidence confirmed that the added value of MAML2 is a composite of an imperfect confirmation test for MEC and a highly specific exclusion tool for the diagnosis of ASC. Real-world evidence can help move a rare molecular-genetic biomarker from an emerging tool to the clinic

    Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

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    Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

    The RNA Revolution: At the Frontiers of Cell Biology and Molecular Medicine

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    In this course, we will investigate the diverse types and functions of different RNA species, with a focus on "non-coding RNAs," i.e. those that do not directly encode proteins. The course will convey both the exciting discoveries in and frontiers of RNA research that are propelling our understanding of cell biology as well as the intellectual and experimental approaches responsible.The molecular biology revolution firmly established the role of DNA as the primary carrier of genetic information and proteins as the primary effector molecules of the cell. The intermediate between DNA and proteins is RNA, which initially was regarded as the "molecule in the middle" of the central dogma. This view has been transformed over the past two decades, as RNA has become recognized as a critical regulator of cellular processes. &nbsp

    An observational study on detection of atrial and ventricular arrhythmias with smartphone-based ECG

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    The Interpretation provided by the smartphone-based Portable ECG devices is still questioned for its reliability and are a subject of study for the detection of arrhythmia and abnormal cases. The heart abnormality is the marker of the uncertain change in the electrical activity of the heart. Hence, its early and true detection can prevent sudden cardiac death and, in some cases even Myocardial Infarction. This study provides insights into such kind of smartphone-based ECG device in comparison to the 12-lead gold standard ECG. Arrhythmia Detection for both atrial and ventricular abnormalities is done by 12- lead ECG machines. Here, we have compared and observed the performance of one such kind of portable device with clinical interpretation and 12 lead gold standard generated computer interpretations. Among the 153 number of enrolled participants 110 subjects were taken into the consideration as per the study protocols. The trials were validated according to the specificity and sensitivity of the smartphone-based ECG which was evaluated at 97.2% specific and 98.63% sensitive in detecting the ventricular and atrial abnormalities in the subjects. Whereas, NPV and PPV were evaluated at 97.2 % and 98.6% respectively

    Analysis of the variation in computer interpretation of Myocardial Infarction by using smartphone-based ECG devices

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    <p>ECGs are crucial for monitoring heart health, especially in detecting arrhythmias and conduction issues. They play a vital role in diagnosing ST-elevated myocardial infarctions (STEMI). However, the accuracy of computer-generated ECG interpretations is often questioned. In this study, we compared two such ECG interpretation platforms with cardiologist diagnoses on 12-lead ECGs. Out of 309 participants, only one case was falsely diagnosed as negative, and one case falsely as positive by the Spandan ECG platform compared to the cardiologist's diagnosis. The overall trial demonstrated remarkable sensitivity (99.5%), specificity (98.7%), negative predictive value (98.7%), and positive predictive value (99.5%).</p&gt

    Percutaneous Embolectomy of Serpentine Thrombus from the Right Atrium in a 51-Year-Old Man.

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    Treatment of large, fresh thrombi in the vascular system can be challenging. AngioVac, a cardiopulmonary pump system, has been used to remove large thrombi and even some tumors by a percutaneous route. We report here a case of a 51-year-old man who presented with a large thrombus (7.5 × 1.5 cm) in his inferior vena cava, extending into his right atrium and right ventricle. Because the surgical risk was high, we attempted percutaneous embolectomy via the AngioVac aspiration system. We also review the literature concerning this emerging technique
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