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Experimental and Clinical Endocrinology... Feb 2019Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the gene, which encodes the... (Review)
Review
Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Endocrine manifestations include primary pigmented nodular adrenocortical disease, that may cause Cushing syndrome, growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia which can result in acromegaly, as well as gonadal and thyroid tumors. Non-endocrine tumors associated with Carney complex include myxomas of the heart, breast, and other sites, psamommatous melanotic schwannomas, breast ductal adenomas, osteochondromyxomas, and a predisposition to a number of malignancies from adrenal to pancreatic and liver cancer.
Topics: Carney Complex; Humans
PubMed: 30428497
DOI: 10.1055/a-0753-4943 -
Australian Dental Journal Mar 2018The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a...
The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a protocol-driven pathway is undertaken for the best patient care. Oral and maxillofacial surgeons contribute to surgical care in this setting with specific knowledge of growth and development of the face. This enables optimum timing for early skeletal correction where appropriate, and definitive surgery following the cessation of growth to maximize function and aesthetics. This chapter will describe the major principles in managing patients with specific craniofacial anomalies and provide examples of the outcomes possible.
Topics: Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Dentistry; Face; Facial Injuries; Female; Humans; Imaging, Three-Dimensional; Infant; Infant, Newborn; Jaw Neoplasms; Macroglossia; Male; Myxoma; Skull; Synostosis; Tomography, X-Ray Computed
PubMed: 29574817
DOI: 10.1111/adj.12591 -
Anatolian Journal of Cardiology Mar 2017A cardiac myxoma may manifest as miscellaneous and uncharacteristic presentations. These unusual aspects of cardiac myxomas can be rare clinical presentations, special... (Review)
Review
A cardiac myxoma may manifest as miscellaneous and uncharacteristic presentations. These unusual aspects of cardiac myxomas can be rare clinical presentations, special patient populations, unusual locations, and special pathology, which may lead to a delayed diagnosis, improper checkups, and subsequent untimely treatment, eventually resulting in unexpected poor prognosis. Therefore, the diagnosis of cardiac myxomas can be challenging because of these unusual aspects. In order to get a better understanding of a cardiac myxoma and to facilitate an early diagnosis and proper treatment, the unusual aspects of cardiac myxomas are described here.
Topics: Heart Neoplasms; Humans; Myxoma
PubMed: 28321109
DOI: 10.14744/AnatolJCardiol.2017.7557 -
The New England Journal of Medicine Oct 2018
Topics: Dyspnea; Echocardiography; Female; Heart Atria; Heart Neoplasms; Humans; Middle Aged; Myxoma; Tachycardia, Sinus
PubMed: 30332570
DOI: 10.1056/NEJMicm1802693 -
Acta Ortopedica Mexicana 2021Mazabraud syndrome was first described in 1926 by Henschen, consisting of the association between bone fibrodysplasia and one or more intramuscular myxomas. The study...
Mazabraud syndrome was first described in 1926 by Henschen, consisting of the association between bone fibrodysplasia and one or more intramuscular myxomas. The study paper conducted by Mazabraud et al. in 1967, described an association between the two pathologies. Later literature referred to this relationship with the eponym described above. In this report, we present the case of a 43-year-old female patient with a known diagnosis of bone fibrodysplasia and subsequent development of a right antecubital fossa mass, which was histologically confirmed as intramuscular myxoma. After the removal of the tumor, the literature was reviewed to find a possible relationship between myxomas and fibrous bone dysplasia, finding positive the association, referred to in the documents reviewed as Mazabraud syndrome.
Topics: Adult; Female; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Humans; Magnetic Resonance Imaging; Muscle Neoplasms; Myxoma; Syndrome
PubMed: 34731928
DOI: No ID Found -
Saudi Medical Journal Sep 2022A cardiac myxoma is a rare tumor that could be incidental or present with common symptoms due to embolization. A minority of cases are attributed to carney complex, a...
A cardiac myxoma is a rare tumor that could be incidental or present with common symptoms due to embolization. A minority of cases are attributed to carney complex, a rare inherited disease. A 73-year-old Asian male presented with acute left-side weakness, slurred speech, gait imbalance, and subacute constitutional symptoms. Left atrial myxoma was discovered by computed tomography and confirmed by echocardiography. Brain imaging revealed pituitary macroadenoma with subarachnoid and intraventricular hemorrages. The hormonal profile confirmed pituitary apoplexy, for which hormone replacement was initiated. Workup also revealed multiple endocrine tumors and excluded infection and malignancy. Myxoma resection could not be carried out, due to the patient's rapid clinical deterioration and death.Furthermore, the presence of cardiac myxoma, non-functioning pituitary macroadenomas, and pituitary apoplexy is extremely rare and rarely documented in the literature. Therefore, we emphasize clinical awareness of rare conditions with atypical presentations to improve outcomes.
Topics: Aged; Carney Complex; Heart Neoplasms; Humans; Male; Myxoma; Pituitary Apoplexy; Pituitary Neoplasms
PubMed: 36104063
DOI: 10.15537/smj.2022.43.9.20220346 -
Brazilian Journal of Cardiovascular... 2015This study aims to present an updated clinical picture of the infected cardiac myxoma. Revankar & Clark made a systematic review of infected cardiac myxoma based on the... (Review)
Review
OBJECTIVE
This study aims to present an updated clinical picture of the infected cardiac myxoma. Revankar & Clark made a systematic review of infected cardiac myxoma based on the literature before 1998. Since then, there has not been any updated information describing its recent changing trends.
METHODS
A comprehensive literature search of infected cardiac myxoma was conducted on MEDLINE, Highwire Press and Google between 1998 and 2014.
RESULTS
In comparison with Revankar & Clark's series, the present series disclosed a significantly decreased overall mortality. It is believed that refinement of the prompt diagnosis and timely management (use of sensitive antibiotics and surgical resection of the infected myxoma) have resulted in better outcomes of such patients.
CONCLUSION
The present series of infected cardiac myxoma illustrated some aggravated clinical manifestations (relative more occasions of high-grade fever, multiple embolic events and the presence of refractory microorganisms), which should draw enough attention to careful diagnosis and treatment. In general, the prognosis of infected cardiac myxoma is relatively benign and the long-term survival is always promising.
Topics: Embolism; Fever; Heart Neoplasms; Humans; Myxoma; Streptococcal Infections
PubMed: 26735605
DOI: 10.5935/1678-9741.20140112 -
Communications Biology Jul 2023Cardiac myxoma (CM) is the most common benign cardiac tumor, and most CMs are left atrial myxomas (LAMs). Six variations of KIF1C, c.899 A > T, c.772 T > G,...
Cardiac myxoma (CM) is the most common benign cardiac tumor, and most CMs are left atrial myxomas (LAMs). Six variations of KIF1C, c.899 A > T, c.772 T > G, c.352 A > T, c.2895 C > T, c.3049 G > A, and c.*442_*443dup in left atrial myxoma tissues are identified by whole-exome sequencing (WES) and Sanger sequencing. RNA-seq and function experiments show the reduction of the expression of KIF1C and PRKAR1A caused by rare variations of KIF1C. KIF1C is observed to be located in the nucleus, bind to the promoter region of PRKAR1A, and regulate its transcription. Reduction of KIF1C decreases PRKAR1A expression and activates the PKA, which causes an increase in ERK1/2 phosphorylation and SRC-mediated STAT3 activation, a reduction of CDH1, TP53, CDKN1A, and BAX, and eventually promotes tumor formation both in vitro and in vivo. The results suggest that inhibition of KIF1C promotes the pathogenesis of LAM through positive feedback formed by the crosstalk between KIF1C and PRKAR1A.
Topics: Humans; Atrial Fibrillation; Myxoma; Heart Neoplasms; Phosphorylation; Kinesins; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PubMed: 37452081
DOI: 10.1038/s42003-023-05094-5 -
Kardiologia Polska Apr 2020Cardiac myxoma is the most common benign cardiac tumor. It is located in the left atrium and typically arises from the foramen ovale in approximately 75% of the general... (Review)
Review
Cardiac myxoma is the most common benign cardiac tumor. It is located in the left atrium and typically arises from the foramen ovale in approximately 75% of the general patient population, in the right atrium in 23%, and in the ventricles in only 2%. Symptoms depend on its size, mobility, and relation to surrounding cardiac structures. Neurological complications resulting from cardiac myxoma are seen in 20% to 25% of patients. Molecular genetic studies show that the condition can be inherited in Carney complex due to mutations of the PRKAR1A gene. Cardiac myxoma resection is a cardiac surgery with a low complication rate and the 30‑day mortality of up to 10%. Recurrence may be observed months or years after surgery, and its rate is approximately 5%. Long‑term follow‑up with transthoracic echocardiography is needed in all patients after tumor resection. This review summarizes the available data on cardiac myxoma and, in particular, issues relating to diagnosis and treatment.
Topics: Carney Complex; Heart Atria; Heart Neoplasms; Humans; Myxoma; Neoplasm Recurrence, Local
PubMed: 32207702
DOI: 10.33963/KP.15254 -
European Annals of Otorhinolaryngology,... Sep 2014Maxillary bone myxoma is a rare benign mesenchymal tumor, slow-growing but locally aggressive. Pathogenesis remains disputed.
INTRODUCTION
Maxillary bone myxoma is a rare benign mesenchymal tumor, slow-growing but locally aggressive. Pathogenesis remains disputed.
OBJECTIVE
To study the clinical, radiological and histological features and treatment of maxillary myxoma, based on a pediatric case report.
CASE REPORT
An infant of two and a half months presented with endonasal tumor extending to ethmoid. Surgical excision was performed on an endonasal approach. Myxoma was diagnosed by histologic examination of the surgical specimen, whereas initial biopsy had suggested fibrous dysplasia. No recurrence was observed after two and a half years' surveillance.
CONCLUSION
Positive diagnosis of maxillary myxoma is histological. Treatment is primarily surgical. Strict long-term surveillance is required because of the high risk of recurrence.
Topics: Humans; Infant; Maxillary Neoplasms; Myxoma
PubMed: 24139787
DOI: 10.1016/j.anorl.2013.04.004