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Molecules (Basel, Switzerland) Apr 2024Alzheimer's disease (AD) is a progressive neurodegenerative disease characterized by the accumulation of amyloid beta (A) plaques in the brain. A is the main component...
Alzheimer's disease (AD) is a progressive neurodegenerative disease characterized by the accumulation of amyloid beta (A) plaques in the brain. A is the main component of A plaque, which is toxic to neuronal cells. Si nanowires (Si NWs) have the advantages of small particle size, high specific surface area, and good biocompatibility, and have potential application prospects in suppressing A aggregation. In this study, we employed the vapor-liquid-solid (VLS) growth mechanism to grow Si NWs using Au nanoparticles as catalysts in a plasma-enhanced chemical vapor deposition (PECVD) system. Subsequently, these Si NWs were transferred to a phosphoric acid buffer solution (PBS). We found that Si NWs significantly reduced cell death in PC12 cells (rat adrenal pheochromocytoma cells) induced by A oligomers via double staining with 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) and fluorescein diacetate/propyl iodide (FDA/PI). Most importantly, pre-incubated Si NWs largely prevented A oligomer-induced PC12 cell death, suggesting that Si NWs exerts an anti-A neuroprotective effect by inhibiting A aggregation. The analysis of Fourier Transform Infrared (FTIR) results demonstrates that Si NWs reduce the toxicity of fibrils and oligomers by intervening in the formation of -sheet structures, thereby protecting the viability of nerve cells. Our findings suggest that Si NWs may be a potential therapeutic agent for AD by protecting neuronal cells from the toxicity of A.
Topics: Animals; Rats; Alzheimer Disease; Amyloid beta-Peptides; Cell Survival; Nanowires; Neuroprotective Agents; PC12 Cells; Peptide Fragments; Protein Aggregates; Silicon
PubMed: 38731472
DOI: 10.3390/molecules29091980 -
Journal of Clinical Medicine Apr 2024Myocardial remodeling is developed by increased stress in acute or chronic pathophysiologies. Stressed heart morphology (SHM) is a new description representing basal... (Review)
Review
Myocardial remodeling is developed by increased stress in acute or chronic pathophysiologies. Stressed heart morphology (SHM) is a new description representing basal septal hypertrophy (BSH) caused by emotional stress and chronic stress due to increased afterload in hypertension. Acute stress cardiomyopathy (ASC) and hypertension could be together in clinical practice. Therefore, there are some geometric and functional aspects regarding this specific location, septal base under acute and chronic stress stimuli. The findings by our and the other research groups support that hypertension-mediated myocardial involvement could be pre-existed in ASC cases. Beyond a frequently seen predominant base, hyperkinetic tissue response is detected in both hypertension and ASC. Furthermore, hypertension is the responsible factor in recurrent ASC. The most supportive prospective finding is BSH in which a hypercontractile base takes a longer time to exist morphologically than an acutely developed syndrome under both physiologic exercise and pressure overload by transaortic binding in small animals using microimaging. However, cardiac decompensation with apical ballooning could mask the possible underlying hypertensive disease. In fact, enough time for the assessment of previous hypertension history or segmental analysis could not be provided in an emergency unit, since ASC is accepted as an acute coronary syndrome during an acute episode. Additional supportive findings for SHM are increased stress scores in hypertensive BSH and the existence of similar tissue aspects in excessive sympathetic overdrive like pheochromocytoma which could result in both hypertensive disease and ASC. Exercise hypertension as the typical form of blood pressure variability is the sum of physiologic exercise and pathologic increased blood pressure and results in increased mortality. Hypertension is not rare in patients with a high stress score and leads to repetitive attacks in ASC supporting the important role of an emotional component as well as the potential danger due to multiple stressors at the same time. In the current review, the impact of multiple stressors on segmental or global myocardial remodeling and the hazardous potential of multiple stressors at the same time are discussed. As a result, incidentally determined segmental remodeling could be recalled in patients with multiple stressors and contribute to the early and combined management of both hypertension and chronic stress in the prevention of global remodeling and heart failure.
PubMed: 38731125
DOI: 10.3390/jcm13092597 -
Journal of Zhejiang University.... Mar 2024Pheochromocytomas and paragangliomas (PPGLs) cause symptoms by altering the circulation levels of catecholamines and peptide hormones. Currently, the diagnosis of PPGLs...
Pheochromocytomas and paragangliomas (PPGLs) cause symptoms by altering the circulation levels of catecholamines and peptide hormones. Currently, the diagnosis of PPGLs relies on diagnostic imaging and the detection of catecholamines. In this study, we used ultra-performance liquid chromatography (UPLC)/quadrupole time-of-flight mass spectrometry (Q-TOF MS) analysis to identify and measure the perioperative differential metabolites in the plasma of adrenal pheochromocytoma patients. We identified differentially expressed genes by comparing the transcriptomic data of pheochromocytoma with the normal adrenal medulla. Through conducting two steps of metabolomics analysis, we identified 111 differential metabolites between the healthy group and the patient group, among which 53 metabolites were validated. By integrating the information of differential metabolites and differentially expressed genes, we inferred that the cysteine-methionine, pyrimidine, and tyrosine metabolism pathways were the three main metabolic pathways altered by the neoplasm. The analysis of transcription levels revealed that the tyrosine and cysteine-methionine metabolism pathways were downregulated in pheochromocytoma, whereas the pyrimidine pathway showed no significant difference. Finally, we developed an optimized diagnostic model of two metabolites, L-dihydroorotic acid and vanylglycol. Our results for these metabolites suggest that they may serve as potential clinical biomarkers and can be used to supplement and improve the diagnosis of pheochromocytoma.
Topics: Pheochromocytoma; Humans; Adrenal Gland Neoplasms; Pyrimidines; Methionine; Tyrosine; Cysteine; Male; Metabolomics; Female; Middle Aged; Adult; Metabolic Networks and Pathways
PubMed: 38725340
DOI: 10.1631/jzus.B2300579 -
Journal of Immunotherapy and Precision... May 2024Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that primarily causes the growth of tumors along nerves. Additionally, the germline mutations...
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that primarily causes the growth of tumors along nerves. Additionally, the germline mutations involved in NF1 predispose patients to develop further malignancies. The mainstay initial treatment for these malignancies is surgical removal at diagnosis, although targeted therapies are under evaluation in the relapsed setting. We report a case of malignant peripheral nerve sheath tumor (MPNST), gastrointestinal stromal tumor (GIST), and pheochromocytoma in a patient with NF1 who presented with an infected right shoulder lesion that was confirmed to be spindle cell sarcoma via biopsy. She was treated with antibiotics; however, she rapidly deteriorated and opted for hospice care. germline mutations increase the risk of patients developing various types of cancer. Recent studies have shown that there is a role for using MEK inhibitors such as selumetinib for treating patients with NF1.
PubMed: 38721407
DOI: 10.36401/JIPO-23-32 -
Journal of Medical Cases May 2024Pheochromocytoma-induced Takotsubo cardiomyopathy is a rare but life-threatening condition, caused by excessive plasma catecholamine levels, resulting in acute...
Pheochromocytoma-induced Takotsubo cardiomyopathy is a rare but life-threatening condition, caused by excessive plasma catecholamine levels, resulting in acute myocardial dysfunction. Clinical presentation includes a rapid development of heart failure due to regional wall motion abnormalities (most commonly affecting all mid to apical left ventricle (LV) wall segments) causing the "octopus-trap-like" LV shape. A 45-year-old female patient presented with acute cardiogenic shock of non-ischemic etiology. Her past medical history included a similar episode, which was followed by full recovery, but at this admission she required hemodynamic support with venoarterial extracorporeal membrane oxygenation. The systolic function was restored, and further investigation revealed high 24-h urine metanephrine levels and a mass of the left adrenal gland, leading to the diagnosis of pheochromocytoma. After treatment with firstly alpha-blockers and then beta-blockers, the pheochromocytoma was surgically removed.
PubMed: 38715917
DOI: 10.14740/jmc4195 -
Kardiologia Polska 2024According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis,...
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients.
Topics: Humans; Poland; Cardiovascular Diseases; Genetic Testing; Societies, Medical; Cardiology; Genetic Counseling; Female
PubMed: 38712785
DOI: 10.33963/v.phj.100490 -
JCO Precision Oncology May 2024Medullary thyroid carcinoma (MTC) in MEN2B syndrome is associated with germline mutation. Patients harboring de novo mutations are usually diagnosed at more advanced...
PURPOSE
Medullary thyroid carcinoma (MTC) in MEN2B syndrome is associated with germline mutation. Patients harboring de novo mutations are usually diagnosed at more advanced disease stages. We present a young woman with Met918Th mutation diagnosed with stage IV MTC at age 10 years.
METHODS
The disease progressed despite total thyroidectomy and multiple surgical interventions for cervical lymph node recurrences, leading to distant metastases in the fifth year after the initial diagnosis. Subsequently, she underwent five different types of tyrosine kinase inhibitor (TKI) treatments. The 17-year disease course was divided into periods defined by four surgical interventions and sequential treatment intervals with four multikinase (sunitinib, vandetanib, cabozantinib, and lenvatinib) and one RET-selective TKI (selpercatinib). Tumor growth for different phases of spontaneous development and drug treatment intervals was characterized by changes in serial log-transformed calcitonin measurements (n = 114).
RESULTS
Three operations (one for calcitonin-producing adrenal pheochromocytoma) were associated with drops in calcitonin levels. All of the nonselective TKIs were stopped due to adverse effects. As reflected by the negative calcitonin doubling rate, the best treatment response was observed with selpercatinib, which was associated with an initial large drop followed by a decreasing calcitonin trajectory over 514 days without any major side effects.
CONCLUSION
This case of MEN2B medullary thyroid cancer with long-term survival presents how the effectiveness of different treatment modalities can be estimated using log-transformed calcitonin levels. Furthermore, our experience supports the view that serial calcitonin measurements may be more sensitive than radiological follow-up in advanced MTC. Our patient also represents a new case of rarely reported calcitonin-producing pheochromocytomas.
Topics: Humans; Calcitonin; Thyroid Neoplasms; Female; Multiple Endocrine Neoplasia Type 2b; Carcinoma, Neuroendocrine; Proto-Oncogene Proteins c-ret; Protein Kinase Inhibitors
PubMed: 38709988
DOI: 10.1200/PO.23.00675 -
Contemporary Clinical Dentistry 2024Multiple endocrine neoplasia (MEN) 2B syndrome is a rare autosomal dominant hereditary condition of neuroendocrine origin characterized by pheochromocytoma, marfanoid...
Multiple endocrine neoplasia (MEN) 2B syndrome is a rare autosomal dominant hereditary condition of neuroendocrine origin characterized by pheochromocytoma, marfanoid habitus, and mucocutaneous neuromas. Multiple mucosal neuromas on the tongue, lips, cheeks, and inner eyelids are often appeared as the earliest signs in most of the undiagnosed cases. Early diagnoses, recognition of phenotype, adequate surgery, and appropriate genetic counseling are very much essential as patients often develop medullary thyroid carcinoma (MTC) and pheochromocytoma. This case report would highlight the oral manifestations of MEN 2B in a 22-year-old female patient with multiple mucosal neuromas and a previous history of thyroidectomy due to MTC.
PubMed: 38707667
DOI: 10.4103/ccd.ccd_215_23 -
Cureus Apr 2024This case report highlights a 47-year-old woman with an adrenal incidentaloma and a history of polysubstance abuse, finally diagnosed with pheochromocytoma....
This case report highlights a 47-year-old woman with an adrenal incidentaloma and a history of polysubstance abuse, finally diagnosed with pheochromocytoma. Characterized by episodic hypertension, headaches, and palpitations, pheochromocytoma is a rare condition with potential complications like uncontrolled hypertension and heart failure. Remarkably, during her 28-day hospitalization, continuous monitoring revealed no instances of tachycardia or arrhythmias despite multiple symptomatic episodes. This finding aligns with reports that while 50-70% of symptomatic pheochromocytoma patients experience palpitations, only about 20% exhibit detectable tachycardia or arrhythmias. This discrepancy suggests varied individual cardiovascular responses to catecholamine surges, possibly due to differences in catecholamine inactivation rates and receptor sensitivity. This case underscores the complexity of pheochromocytoma symptoms and highlights the need for personalized diagnostic and management strategies. Furthermore, it points to a significant gap in understanding the correlation between palpitations and arrhythmia in pheochromocytoma, indicating a critical area for future research.
PubMed: 38707146
DOI: 10.7759/cureus.57643