Chemotherapy Related Severe Cardiac Dysfunction - Case Report.
Ontology highlight
ABSTRACT:
SUBMITTER: Cherata DA
PROVIDER: S-EPMC6243525 | biostudies-other | 2015 Oct-Dec
REPOSITORIES: biostudies-other
Publications
Chemotherapy Related Severe Cardiac Dysfunction - Case Report.
Cherata D A DA Cârstea D D Zaharie M M Bătăiosu C C Lungulescu D D
Current health sciences journal 20151001 4
Cardiotoxicity is the most important side effect of cancer therapy resulting in increased patient morbidity and mortality, therefore understanding its occurrence mechanism and a correct and early diagnosis are essential for patients at risk of irreversible heart failure. We present the case of a patient who developed cancer therapeutics-related cardiac dysfunction, emphasizing the importance of regular echocardiographic evaluation for early detection of subclinical cardiac dysfunction and furthe ...[more]
Similar Datasets
Project description:A previously healthy 49-year-old male patient presented with COVID-19 infection and required mechanical ventilation and extracorporeal membrane oxygenation due to severe hypoxemia. Echocardiography showed cardiac dysfunction with an apical sparing strain pattern, which rapidly normalized within a week. Apical sparing myocardial strain in patients with COVID-19 infection may suggest reverse-type stress cardiomyopathy.
| S-EPMC7461431 | biostudies-literature
Project description:Phantosmia has been described as a sense of smell without a true stimulating odor and not been reported with COVID-19 disease. Nine patients admitted to Ear Nose Throat (ENT) Clinic with complaints of a phantom smell sense after an average of 33.5?±?9.5 days after the initial PCR diagnosis. According to the Sniffin 'Sticks test, phantosmia was associated with objective hyposmia in three patients with the persistent phantom smell, and other six patients were detected normosmic. Phantosmia or olfactory hallucinations have not been previously associated with COVID-19 disease. Additionally, COVID-19 related phantosmia showed different characteristics according to described in the literature. Supplementary Information The online version contains supplementary material available at 10.1007/s12070-021-02505-z.
| S-EPMC7953190 | biostudies-literature
Project description:The proposal that diabetes plays a role in the development of heart failure is supported by the increased risk associated with this disease, even after correcting for all other known risk factors. However, the precise mechanisms contributing to the condition referred to as diabetic cardiomyopathy have remained elusive, as does defining the disease itself. Decades of study have defined numerous potential factors that each contribute to disease susceptibility, progression, and severity. Many recent detailed reviews have been published on mechanisms involving insulin resistance, dysregulation of microRNAs, and increased reactive oxygen species, as well as causes including both modifiable and non-modifiable risk factors. As such, the focus of the current review is to highlight aspects of each of these topics and to provide specific examples of recent advances in each area.
| S-EPMC5503861 | biostudies-other
Project description:Aspergillary rhinopharyngitis in an equine patient
| PRJEB46193 | ENA
Project description:BACKGROUND:Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION:A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome. This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. Furthermore, we report on the successful use of LDL-Apheresis and biliodigestive derivation for treatment of cholestatic pruritus with encouraging results. CONCLUSION:ARC is a heterogeneous disorder with early mortality. This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach.
| S-EPMC6003143 | biostudies-literature
Project description:We report one of the earliest known U.S. cases of multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C). This adolescent male presented prior to any known association between COVID-19 and immune mediated inflammatory syndrome in children. He presented in stable condition and without significant multisystem involvement. During hospitalization, he developed severe left ventricular dysfunction and mixed hypovolemic, distributive and cardiogenic shock. Clinical features overlapped with Kawasaki disease, acute rheumatic fever, and toxic shock syndrome. After centers in Europe began reporting a multisystem inflammatory condition in children with COVID-19, the patient's clinical course and laboratory findings were revisited. He underwent newly available antibody testing and was diagnosed as one of the first known cases of MIS-C in the United States.
| S-EPMC7329651 | biostudies-literature
Project description:BackgroundMucormycosis is an invasive fungal infection (IFI) most commonly seen in immunocompromised patients. Diabetic ketoacidosis, haematopoietic transplantation, iron overload states, and deferoxamine therapy are considered to be some of the classical risk factors. While cutaneous and rhino-sinusoidal forms may be seen in immunocompetent (IC) individuals, cardiac and mediastinal involvement is rare. In this report, we describe a young patient without predisposing factors who presented as mediastinal mucormycosis with extensive cardiac involvement.Case summaryA 19-year-old male presented with complaints of dry cough and dyspnoea on exertion over the last 4 months. Echocardiography showed diffuse infiltration of both atria along with multiple pedunculated freely mobile masses. A computed tomography chest was done to further delineate the true extent of the disease and revealed diffuse infiltration of the mediastinum, bilateral atria and interatrial septum, pulmonary veins, and superior vena cava. A fine needle aspiration cytology from a mediastinal mass revealed broad aseptate fungal hyphae with right angled branching consistent with Mucor. Extensive evaluation could not find any predisposing factors. The patient was started on Amphotericin B and surgical debridement was contemplated. However, owing to the diffuse infiltration around the heart and mediastinal vasculature, debridement could not be performed and the patient eventually succumbed to the illness.DiscussionMediastinal mucormycosis though rare in IC patients, is a rapidly progressive condition with a high fatality. A high index of suspicion needs to be maintained in individuals presenting with infiltrative disorders of the mediastinum for early diagnosis and prompt treatment.
| S-EPMC6764552 | biostudies-literature
Project description:Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression. Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression.
2016-08-01 | GSE85013 | GEO
Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
2020-06-04 | GSE151766 | GEO
Project description:Cardiac myxomas are the most common benign tumors of the heart. They are most commonly found in the left atrium, followed by a right atrium and rarely in the left ventricle. Herein, we report a rare case of left ventricular myxoma in a patient who had twice undergone removal of left atrial myxoma. Complete removal of the tumor through aortotomy, without causing fragmentation led to the uneventful recovery of the patient.
| S-EPMC8617394 | biostudies-literature