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Kidney & Blood Pressure Research 2024To improve the clinical evaluation of the prognosis of papillary renal cell carcinoma (PRCC), we screened a model to predict the survival of patients with mutations in...
BACKGROUND
To improve the clinical evaluation of the prognosis of papillary renal cell carcinoma (PRCC), we screened a model to predict the survival of patients with mutations in related genes.
METHODS
We downloaded RNA sequencing information from all patients with PRCC in TCGA. We first analyzed the differences in genes and the enrichment of these differences. Then, by selecting mutant genes, constructing a protein-protein interaction network, least absolute shrinkage and selection operator regression, and multivariable Cox regression, a prognosis model was constructed. Additionally, the model was validated using external data sets. We analyzed the immune infiltration of PRCC and the correlation between the model and popular targets. Finally, we performed tissue microarray analysis and immunohistochemistry to verify the expression levels of the three genes.
RESULTS
We constructed a three-gene (never in mitosis gene A-related kinase 2 [NEK2], centromere protein A [CENPA], and GINS complex subunit 2 [GINS2]) model. The verification results indicated that the model had a good prediction effect. We also developed a visual nomogram. Enrichment analysis revealed the major pathways involved in muscle system processes. Immunoassays showed that the expression level of CENPA was positively correlated with PD-1 and CTLA4 expression levels. Immunohistochemical and tissue microarray results showed that these three genes were highly expressed in PRCC, which was consistent with the predicted results in the database.
CONCLUSION
We constructed and verified a three-gene model to predict the patient survival. The results show that the model has a good prediction effect.
Topics: Humans; Carcinoma, Renal Cell; Kidney Neoplasms; Mutation; Prognosis; Chromosomal Proteins, Non-Histone; Protein Interaction Maps; Male; CTLA-4 Antigen; Nomograms; Programmed Cell Death 1 Receptor; Female
PubMed: 38714185
DOI: 10.1159/000539096 -
Cureus Apr 2024The mucous membrane fold, which facilitates the attachment of the gingiva, alveolar mucosa, and the periosteum surrounding the lips and cheek, is known as the frenum....
The mucous membrane fold, which facilitates the attachment of the gingiva, alveolar mucosa, and the periosteum surrounding the lips and cheek, is known as the frenum. The frenal attachment at the gingival or papillary level may comprise periodontal health due to difficulty with plaque adherence or muscle pull. The management of such aberrant frenal attachment becomes necessary to avoid the associated future problems, such as midline diastema and periodontal attachment loss, which might lead to aesthetic problems and tooth mobility. The treatment modalities involve frenectomy using Miller's technique, conventional technique, Z-plasty, and V-Y plasty types of frenectomy procedures. The patient's requirements, specific indications, and intended results determine the method. This case report illustrates the utilisation of the V-Y plasty technique for the frenectomy of a papillary-type labial frenal attachment in a 19-year-old female patient. V-Y plasty proved to be an efficient technique for removing the aberrant labial frenum attachment, and the results were highly satisfactory, with less scar formation. V-Y plasty is reliable for covering defects and elongating the frenum area, giving desired clinical outcomes.
PubMed: 38707118
DOI: 10.7759/cureus.57663 -
Cureus Mar 2024Perioperative management of patients with myopathies can be challenging due to the increased risk of malignant hyperthermia (MH) and anesthesia-induced rhabdomyolysis...
Perioperative management of patients with myopathies can be challenging due to the increased risk of malignant hyperthermia (MH) and anesthesia-induced rhabdomyolysis (AIR). However, currently, there is no evidence regarding the optimal anesthetic management for paraneoplastic necrotizing myopathy (PNM) (total intravenous anesthetic vs. volatile anesthetics). Here, I report a case where anesthesia was administered safely using volatile anesthetics. A 63-year-old female presented with PNM associated with papillary thyroid carcinoma, necessitating urgent thyroidectomy. The patient, previously diagnosed with anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) antibody-associated myopathy, exhibited progressive weakness and dysphagia, prompting suspicion of PNM. The patient's compromised respiratory status, attributed to tracheal compression by a large goiter, necessitated an urgent thyroidectomy. Anesthetic management considerations included the potential effect of HMGCR-M on respiratory muscles and the need for careful planning to mitigate postoperative complications. The patient underwent total thyroidectomy, left central compartment clearance, and tracheostomy. The surgery proceeded uneventfully, with meticulous monitoring and adjustment of anesthetic agents to maintain hemodynamic stability. Postoperatively, the patient recovered well, demonstrating complete resolution of neurological symptoms during a three-month follow-up. The case underscores the importance of recognizing paraneoplastic syndromes in the context of thyroid surgery and highlights potential challenges faced by anesthesiologists. Despite the lack of established safety data for anesthetic drugs in HMGCR-M necrotizing myopathy, the case demonstrates the successful use of sevoflurane and rocuronium.
PubMed: 38694410
DOI: 10.7759/cureus.57351 -
The Journal of Thoracic and... Apr 2024The study objective was to evaluate the safety and efficacy of a transaortic approach to midventricular and apical septal myectomy in patients with hypertrophic...
OBJECTIVE
The study objective was to evaluate the safety and efficacy of a transaortic approach to midventricular and apical septal myectomy in patients with hypertrophic cardiomyopathy with left ventricular outflow tract or midventricular obstruction.
METHODS
From January 2018 to August 2023, 940 patients underwent transaortic septal myectomy at the Cleveland Clinic, of whom 682 (73%) had midventricular or apical resection. Patients who underwent isolated basal myectomies were excluded. Templated operative reports designated septal regions resected as basal (opposition to mitral valve up to the leaflet tips), midventricular (leaflet tips to just beyond the papillary muscle heads), and apical (apical third of the ventricle). Myocardial resection specimen weights, intraventricular gradients, and clinical outcomes were assessed.
RESULTS
Of the 682 patients, 582 (85%) had basal plus midventricular resection and 78 (11%) had basal, midventricular, and apical resection. Mean preoperative intraventricular gradient was 102 ± 41 mm Hg. Median resection weight was 10 g (15th, 85th percentiles: 7, 15), and mean postoperative intraventricular gradient was 16 ± 10 mm Hg, with 625 (96%) patients achieving gradients 36 mm Hg or less. There were no iatrogenic mitral or aortic valve injuries. Permanent pacemaker placement was required in 38 patients (5.6%), of whom 8 (1.2%) had normal preoperative conduction. Operative mortality occurred in 1 patient (0.1%) after an intraoperative ventricular septal defect.
CONCLUSIONS
Most patients undergoing septal myectomy for relief of obstruction required resection beyond the basal septum. With specialized instrumentation, detailed imaging and knowledge of variable septal anatomy, resecting midventricular and apical septal muscle can be safely and effectively achieved through a transaortic approach.
PubMed: 38692479
DOI: 10.1016/j.jtcvs.2024.04.016 -
Thoracic Cancer Jun 2024Solitary pulmonary papillomas (SPPs) are rare lung neoplasms. Histologically, SPP is classified into three subtypes, and mixed squamous and glandular papilloma (MP) is...
Solitary pulmonary papillomas (SPPs) are rare lung neoplasms. Histologically, SPP is classified into three subtypes, and mixed squamous and glandular papilloma (MP) is the rarest subtype. Although SPPs are considered benign tumors, there have been several reports on the synchronous malignant transformation in SPPs. An 82-year-old asymptomatic man was referred to our hospital for further examination of a 2.2 cm-sized left lung tumor. Pathology of bronchoscopic specimens showed the possibility of pulmonary papilloma but did not reveal any malignancy. The patient complained of bloody sputum during the eighth month after the initial visit. The size of the lesion had increased to 4.3 cm. These data suggested the existence of malignancy, and the patient underwent an operation. Histologically, the tumor was composed of fibrovascular cores and papillomatous fronds lined by pseudostratified columnar cells and mucin-filled goblet cells. Keratinizing squamous epithelium was also observed. Overall, the diagnosis of MP was obtained by fundamental histology. In addition, a solid part beneath mild atypical squamous epithelia, which was composed of malignant-appearing squamous cells and spindle-shaped atypical cells, was observed. The spindle portion was positive for cytokeratin AE1/AE3 and vimentin, and focally positive for alpha-smooth muscle actin (αSMA). The final diagnosis was pulmonary pleomorphic carcinoma (PPC) arising in the MP. Only two cases have been reported for atypical spindle tumor cells that are found in MP or bronchiolar adenoma/ciliated muconodular papillary tumor (BA/CMPT), which has histologically similar features to MP. This is the second case report of PPC arising in MP.
Topics: Humans; Male; Papilloma; Lung Neoplasms; Aged, 80 and over; Carcinoma, Squamous Cell
PubMed: 38690654
DOI: 10.1111/1759-7714.15322 -
Oxford Medical Case Reports Apr 2024Right-sided infective endocarditis (RSIE) generally carries a positive prognosis; however, it can result in complications such as heart failure, underscoring the...
Right-sided infective endocarditis (RSIE) generally carries a positive prognosis; however, it can result in complications such as heart failure, underscoring the importance of prompt diagnosis. While echocardiography serves as the standard diagnostic tool, it may occasionally face challenges in distinguishing between normal structures and vegetations. In this report, we present the case of a 60-year-old man diagnosed with pyogenic vertebral osteomyelitis, alongside suspected coexisting RSIE. During both transthoracic and transesophageal echocardiography, a rod-like mobile structure was observed adjacent to the right ventricular moderator band. However, confirming its nature as an infective vegetation proved challenging. Despite the inconclusive diagnosis of IE by echocardiography, the positron emission tomography/computed tomography (PET/CT) scan and cardiac magnetic resonance imaging (MRI) played a pivotal role in distinguishing between normal structures and vegetations. Since IE could develop life-threatening events, the role of multimodal imaging is of paramount importance. This case serves as a compelling example of the diagnostic value through the integration of PET/CT and MRI in ruling out IE.
PubMed: 38680779
DOI: 10.1093/omcr/omae026 -
BMC Cardiovascular Disorders Apr 2024The most common mechanical complications of acute myocardial infarction include free-wall rupture, ventricular septal rupture (VSR), papillary muscle rupture and...
Ventricular apical wall rupture and ventricular aneurysm formation concurrent with ventricular septal dissection and rupture due to ST-segment elevation myocardial infarction: a case report.
The most common mechanical complications of acute myocardial infarction include free-wall rupture, ventricular septal rupture (VSR), papillary muscle rupture and pseudoaneurysm. It is rare for a patient to experience more than one mechanical complication simultaneously. Here, we present a case of ST-segment elevation myocardial infarction (STEMI) complicated with three mechanical complications, including ventricular apical wall rupture, ventricular aneurysm formation and ventricular septal dissection (VSD) with VSR. Cardiac auscultation revealed rhythmic S1 and S2 with a grade 3 holosystolic murmur at the left sternal border. Electrocardiogram indicated anterior ventricular STEMI. Serological tests showed a significant elevated troponin I. Bedside echocardiography revealed ventricular apical wall rupture, apical left ventricle aneurysm and VSD with VSR near the apex. This case demonstrates that several rare mechanical complications can occur simultaneously secondary to STEMI and highlights the importance of bedside echocardiography in the early diagnosis of mechanical complications.
Topics: Aged; Humans; Electrocardiography; Heart Aneurysm; Heart Rupture, Post-Infarction; Point-of-Care Testing; Predictive Value of Tests; ST Elevation Myocardial Infarction; Treatment Outcome; Ventricular Septal Rupture; Female
PubMed: 38654152
DOI: 10.1186/s12872-024-03879-y -
European Heart Journal. Case Reports Apr 2024Clear cell sarcoma (CCS) is a very rare disease and one with a very poor prognosis. Furthermore, its occurrence in the heart is very rare and past reports are scarce.
BACKGROUND
Clear cell sarcoma (CCS) is a very rare disease and one with a very poor prognosis. Furthermore, its occurrence in the heart is very rare and past reports are scarce.
CASE SUMMARY
A 33-year-old man who had undergone left arm amputation due to CCS came to the hospital because a positron emission tomography computed tomography (PET-CT) four years post-amputation showed an accumulation in the heart. The PET-CT with glucose suppression treatment showed fluorodeoxyglucose accumulation in the myocardium between the middle of the anterolateral wall and the papillary muscle of the posterior lateral wall of the left ventricle (LV). Based on the course of the disease up to now, it was considered that the accumulation was most likely metastasis of CCS. Observation of the heart after a median sternotomy revealed a white tone, well-defined lesion in the middle of the anterolateral wall of LV. The tumour on the posterolateral side of LV was not exposed on the surface, but it was palpated and was still recognizable as a firm neoplastic lesion. Because the mass was identified as a sarcoma on intraoperative rapid pathology, we decide to perform a total resection. Both lesions were excised, and pathology revealed a diagnosis of CCS.
DISCUSSION
Clear cell sarcoma is a very rare disease that accounts for <1% of all soft tissue sarcomas, and its occurrence in the heart is even rarer. It requires a combination of many imaging modalities. To our knowledge, this is the first case of CCS in the heart treated with surgical resection.
PubMed: 38651083
DOI: 10.1093/ehjcr/ytae174 -
Frontiers in Cardiovascular Medicine 2024Mitral annular disjunction (MAD) refers to the arrhythmic mitral valve prolapse (MVP) syndrome associated with ventricular arrhythmias and sudden cardiac death. Although...
BACKGROUND
Mitral annular disjunction (MAD) refers to the arrhythmic mitral valve prolapse (MVP) syndrome associated with ventricular arrhythmias and sudden cardiac death. Although the pathophysiology of this disease is still under investigation, specific imaging criteria that establish the diagnosis have been recognized. In this article, we demonstrate most of these criteria using three-dimensional transthoracic echocardiography (3D-TTE) and provide added value in the management of MAD syndrome.
CASE PRESENTATION
A 50-year-old male patient with recent syncope and a history of mitral regurgitation (MR) and MAD was admitted to our clinic for further investigation. According to our protocol, the patient underwent a complete 3D-TTE, laboratory blood exams, and 24 h ambulatory electrocardiogram (ECG). Our investigation confirmed the presence of MAD syndrome with bileaflet prolapse, severe MR, and non-sustained ventricular tachycardia, necessitating an implantable cardioverter defibrillator (ICD) and surgical mitral valve repair. The 3D-TTE analysis of the mitral valve demonstrated mitral annular systolic expansion and systolic flattening of the saddle-shaped annulus and quantified the extent of the disjunction arc. Additionally, four-dimensional (4D) strain analysis of the left ventricle revealed the presence of fibrosis of the posteromedial papillary muscle and basal inferolateral wall, which are variables that are required for the diagnosis and therapeutic management of MAD syndrome.
CONCLUSIONS
3D-TTE and 4D strain offer valuable insights for diagnosing and managing patients with MAD syndrome. This method seems to correlate well with the other imaging modalities and could be included in the management protocol of MAD syndrome.
PubMed: 38601046
DOI: 10.3389/fcvm.2024.1366444