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1.
J Card Surg ; 35(11): 3208-3210, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32789895

RESUMEN

CASE: A 67-year-old female presented with an exceedingly rare cardiac neoplasm - papillary fibroelastoma. This is made rarer still as it occurred on the pulmonary valve. The patient complained of a prolonged history of chest discomfort. Magnetic resonance imaging and echocardiography revealed a pulmonary valve papillary fibroelastoma. Surgical excision proved curative and the patient remains asymptomatic to date. DISCUSSION: The literature surrounding papillary fibroelastomas is discussed. Primary cardiac tumours are uncommon. Papillary fibroelastomas occurring the right side of the heart comprise less than 0.05% of these. They have a characteristic macroscopic appearance which allow them to be easily identified with echocardiography and at surgical excision. They can present in a variety of ways including classical cardiac symptoms, embolic complications or as an incidental finding. Surgical excision is the definitive treatment.


Asunto(s)
Fibroelastoma Papilar Cardíaco/cirugía , Neoplasias Cardíacas/cirugía , Válvula Pulmonar/cirugía , Anciano , Fibroelastoma Papilar Cardíaco/diagnóstico por imagen , Ecocardiografía , Femenino , Neoplasias Cardíacas/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Válvula Pulmonar/diagnóstico por imagen , Enfermedades Raras , Resultado del Tratamiento
3.
Diagnostics (Basel) ; 14(5)2024 Mar 06.
Artículo en Inglés | MEDLINE | ID: mdl-38473030

RESUMEN

In the realm of liver transplantation, accurately determining hepatic steatosis levels is crucial. Recognizing the essential need for improved diagnostic precision, particularly for optimizing diagnosis time by swiftly handling easy-to-solve cases and allowing the expert time to focus on more complex cases, this study aims to develop cutting-edge algorithms that enhance the classification of liver biopsy images. Additionally, the challenge of maintaining data privacy arises when creating automated algorithmic solutions, as sharing patient data between hospitals is restricted, further complicating the development and validation process. This research tackles diagnostic accuracy by leveraging novel techniques from the rapidly evolving field of quantum machine learning, known for their superior generalization abilities. Concurrently, it addresses privacy concerns through the implementation of privacy-conscious collaborative machine learning with federated learning. We introduce a hybrid quantum neural network model that leverages real-world clinical data to assess non-alcoholic liver steatosis accurately. This model achieves an image classification accuracy of 97%, surpassing traditional methods by 1.8%. Moreover, by employing a federated learning approach that allows data from different clients to be shared while ensuring privacy, we maintain an accuracy rate exceeding 90%. This initiative marks a significant step towards a scalable, collaborative, efficient, and dependable computational framework that aids clinical pathologists in their daily diagnostic tasks.

4.
BMJ Case Rep ; 15(1)2022 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-35058285

RESUMEN

A 56-year-old woman was admitted due to new ulceration and acute digital ischaemia on a background of chronic leg ulcers bilaterally. Vasculitis screening returned strongly positive lupus anticoagulant levels and elevated anticardiolipin antibodies; these remained elevated at repeat testing. A diagnosis of antiphospholipid syndrome was made. Transthoracic echocardiogram identified a mitral valve lesion suggestive of vegetation and mild mitral valve regurgitation. Blood cultures taken throughout her inpatient admission were negative. Mechanical mitral valve replacement was performed 3 months later, and subsequent culture of the excised tissue returned as sterile. Histological examination showed no morphological signs of infective endocarditis.


Asunto(s)
Endocarditis , Insuficiencia de la Válvula Mitral , Celulitis (Flemón) , Femenino , Humanos , Extremidad Inferior , Persona de Mediana Edad , Válvula Mitral/diagnóstico por imagen , Válvula Mitral/cirugía , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Insuficiencia de la Válvula Mitral/etiología , Insuficiencia de la Válvula Mitral/cirugía
5.
BMJ Case Rep ; 14(8)2021 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-34389586

RESUMEN

Solitary fibrous tumours (SFTs) are rare neoplasms derived from mesenchymal cell lines. They are often asymptomatic, follow an indolent growth pattern and are more often benign than malignant. Here, we present a case of a very large, asymptomatic mediastinal SFT in an otherwise healthy man. A 67-year-old Irish man was referred for workup of an asymptomatic murmur. Auscultation of the lung fields revealed diminished breath sounds on the right side. Chest X-ray identified a 20 cm mass localised within the thorax. CT of the thorax confirmed a pleural based, solid lesion with no local invasion. CT-guided core biopsies were reported as consistent with SFT. Primary excision of the lesion was undertaken via median sternotomy. Histological examination confirmed a diagnosis of SFT. The patient remains well at this time. Primary excisive surgery is a safe and effective treatment modality for SFTs.


Asunto(s)
Mediastino , Tumores Fibrosos Solitarios , Anciano , Biopsia , Humanos , Masculino , Radiografía , Tumores Fibrosos Solitarios/diagnóstico por imagen , Tumores Fibrosos Solitarios/cirugía
6.
ACS Med Chem Lett ; 12(1): 56-59, 2021 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-33488964

RESUMEN

Competitive inhibitors of galactocerebrosidase (GALC) could be candidates for pharmacological chaperone therapy of patients with Krabbe disease. The known and selective nortropane-type iminosugar galacto-noeurostegine has been found to competitively inhibit GALC with K i = 7 µM at pH 4.6, which is 330-fold more potent than the analogous deoxynoeurostegine. It was shown through X-ray protein crystallography that galacto-noeurostegine binds to the active site of GALC in its bicyclic form.

7.
Chem Sci ; 11(39): 10792-10801, 2020 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-34094333

RESUMEN

Organic synthesis underpins the evolution of weak fragment hits into potent lead compounds. Deficiencies within current screening collections often result in the requirement of significant synthetic investment to enable multidirectional fragment growth, limiting the efficiency of the hit evolution process. Diversity-oriented synthesis (DOS)-derived fragment libraries are constructed in an efficient and modular fashion and thus are well-suited to address this challenge. To demonstrate the effective nature of such libraries within fragment-based drug discovery, we herein describe the screening of a 40-member DOS library against three functionally distinct biological targets using X-Ray crystallography. Firstly, we demonstrate the importance for diversity in aiding hit identification with four fragment binders resulting from these efforts. Moreover, we also exemplify the ability to readily access a library of analogues from cheap commercially available materials, which ultimately enabled the exploration of a minimum of four synthetic vectors from each molecule. In total, 10-14 analogues of each hit were rapidly accessed in three to six synthetic steps. Thus, we showcase how DOS-derived fragment libraries enable efficient hit derivatisation and can be utilised to remove the synthetic limitations encountered in early stage fragment-based drug discovery.

8.
Case Rep Gastrointest Med ; 2017: 1971457, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28421150

RESUMEN

A 45-year-old woman with suspected Functional Biliary Sphincter Disorder (FBSD) developed Clostridium perfringens related emphysematous cholecystitis after ERCP. A low index of suspicion for emphysematous cholecystitis in this young, otherwise healthy woman led to a significant delay in making the correct diagnosis, and air in the gallbladder was wrongly attributed to a possible gallbladder perforation. ERCP is associated with significant risks, particularly in patients with FBSD, where diagnostic uncertainty renders the balance of risk versus benefit even more critical. Post-ERCP emphysematous cholecystitis secondary to Clostridium perfringens is a rare but potentially fatal complication.

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