Browse
Submit Data
Databases
API
Help

Dataset Information

20 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

It's Never Too Late: Spotting Congenital Absence of the Pericardium in an Older Adult.

ABSTRACT: A 75-year-old male with a cardiopulmonary history presented with chest pain and dyspnea. He was hypertensive. An electrocardiogram showed paced rhythm. A high-sensitivity test showed his troponin T level was minimally elevated. Coronary angiography results were unremarkable. Chest radiography revealed an elevated cardiac apex, previously attributed to cardiomegaly. Echocardiography revealed a teardrop shaped heart in a nonstandard apical window. Computed tomography confirmed congenital absence of the left pericardium. Challenges of recognizing a rare condition are highlighted. Congenital absence of the pericardium, an often benign but rarely catastrophic condition, can masquerade for decades before diagnosis, underlining the importance of clinical vigilance in evaluating common cardiac complaints.

SUBMITTER: Yazdan-Ashoori P

PROVIDER: S-EPMC7711001 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

It's Never Too Late: Spotting Congenital Absence of the Pericardium in an Older Adult.

Yazdan-Ashoori Payam P Jimenez-Juan Laura L Pereira Lisa L Ahmed Shaheeda S

CJC open 20200702 6

A 75-year-old male with a cardiopulmonary history presented with chest pain and dyspnea. He was hypertensive. An electrocardiogram showed paced rhythm. A high-sensitivity test showed his troponin T level was minimally elevated. Coronary angiography results were unremarkable. Chest radiography revealed an elevated cardiac apex, previously attributed to cardiomegaly. Echocardiography revealed a teardrop shaped heart in a nonstandard apical window. Computed tomography confirmed congenital absence o ...[more]

PMID: 33305232

Similar Datasets

Congenital absence of a left-sided pericardium.

Project description: Not available

| S-EPMC8637791 | biostudies-literature

Complete congenital absence of the pericardium: An incidental finding.

Project description:A 62-year-old male presented with generalized aches and pains accompanied by night sweats and weight loss. Clinical examination was unremarkable and the chest X-ray was reported as normal. Subsequent computed-tomography thorax and bone marrow aspirate diagnosed a diffuse large B-cell lymphoma. Prior to commencing chemotherapy, a routine echocardiography proved technically difficult and reported abnormal ventricular function. Following a cardiology review, a cardiovascular magnetic resonance scan was requested which demonstrated congenital absence of the pericardium and a normal ventricular function. The patient was asymptomatic and therefore continued on to chemotherapy treatment for the large B-cell lymphoma. <Learning objective: Congenital complete absence of the pericardium (CCAP) is a rare condition that often presents atypically and is detected incidentally. Multi-parametric, non-invasive cardiac imaging such as cardiovascular magnetic resonance imaging is the gold-standard diagnostic tool. CCAP is usually asymptomatic and does not require any surgical intervention. However, symptomatic patients who may be at risk of serious complications require surgical treatment such as pericardiotomy or pericardioplasty. Routine investigations such as the electrocardiogram, the chest X-ray, and the echocardiography may raise clinical suspicions of CCAP as demonstrated in this case report.>.

| S-EPMC6277596 | biostudies-literature

Diagnosis and management of congenital absence of pericardium: a case report.

Project description:Background:Absence of the pericardium is a rare congenital defect with an approximate incidence of <1/10 000. We review a case of complete pericardial agenesis in a symptomatic patient with gross cardiac mobility, for which pericardial reconstruction was undertaken successfully. Case summary:A 24-year-old otherwise fit and well patient, with debilitating exertional chest pain was found to have complete pericardial agenesis on the left side and on the diaphragmatic surface. There was gross cardiac mobility demonstrated on cardiac magnetic resonance imaging. His pericardium was reconstructed surgically using Gore-tex® patches. There were no complications, and the patient was discharged 8?days later. Three months later at follow-up, the patient required no analgesia and has had complete resolution of his chest pains. Discussion:Congenital hemi-pericardial agenesis is a very rare condition which often remains undetected due to its asymptomatic nature. It is important to consider this as a differential diagnosis of exertional chest pains. Cardiac magnetic resonance imaging remains the investigation of gold standard. There is no consensus on whether surgical intervention in symptomatic or asymptomatic patients has any prognostic value. However, we have demonstrated that by reconstructing the pericardium in a highly symptomatic patient, there has been a resolution in size of a previously dilated right ventricle and most importantly an improvement in quality of life.

| S-EPMC6939816 | biostudies-literature

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.

Project description:Background: More than 50 different monogenic disorders have been identified as directly causing inflammatory bowel diseases, typically manifesting in the first years of life. We present the clinical course and immunological work-up of an adult patient who presented in adolescent years with an atypical gastrointestinal phenotype and was diagnosed more than two decades later with a monogenic disorder with important therapeutic implications. Methods: Whole exome sequencing was performed in a 37-years-old patient with a history of diarrhea since adolescence. Sanger sequencing was used to validate the suspected variant. Mass cytometry (CyTOF) and flow cytometry were conducted on peripheral blood mononuclear cells for deep immunophenotyping. Next-generation sequencing of the TCRB and IgH was performed for global immune repertoire analysis of circulating lymphocytes. Results: We identified a novel deleterious c.1455C>A (p.Y485X) mutation in LRBA. CyTOF studies demonstrated significant changes in immune landscape in the LRBA-deficient patient, including an increase in myeloid derived suppressor cells and double-negative T cells, decreased B cells, low ratio of naïve:memory T cells, and reduced capacity of T cells to secrete various cytokines following stimulation, including tumor necrosis factor alpha (TNF-α) and interferon gamma (IFN-γ). In addition, this patient exhibited low frequency of regulatory T cells, with a reduction in their CTLA4 expression and interleukin (IL)-10 secretion. Finally, we show marked oligoclonal expansion of specific B- and T-cell clones in the peripheral blood of the LRBA-deficient patient. Conclusions: LRBA deficiency is characterized by marked immunological changes in innate and adaptive immune cells. This case highlights the importance of advanced genetic studies in patients with a unique phenotype, regardless of their age at presentation.

| S-EPMC7509434 | biostudies-literature

Cardiac Eclipse: Congenital Absence of the Pericardium Manifesting as Atypical Chest Pain.

Project description:Highlights•Congenitally absent pericardium (CAP) is rare and usually diagnosed incidentally.•Although usually asymptomatic, CAP can present with life-threatening complications.•Proper diagnosis requires a high suspicion and focused multimodality imaging.•Asymptomatic patients and those with low risk features are managed conservatively.•Surgery is reserved for those with refractory symptoms and/or high-risk features.

| S-EPMC7175752 | biostudies-literature

Enzymatic Late-Stage Modifications: Better Late Than Never.

Project description:Enzyme catalysis is gaining increasing importance in synthetic chemistry. Nowadays, the growing number of biocatalysts accessible by means of bioinformatics and enzyme engineering opens up an immense variety of selective reactions. Biocatalysis especially provides excellent opportunities for late-stage modification often superior to conventional de novo synthesis. Enzymes have proven to be useful for direct introduction of functional groups into complex scaffolds, as well as for rapid diversification of compound libraries. Particularly important and highly topical are enzyme-catalysed oxyfunctionalisations, halogenations, methylations, reductions, and amide bond formations due to the high prevalence of these motifs in pharmaceuticals. This Review gives an overview of the strengths and limitations of enzymatic late-stage modifications using native and engineered enzymes in synthesis while focusing on important examples in drug development.

| S-EPMC8359417 | biostudies-literature

Robotic totally endoscopic coronary artery bypass grafting: It's now or never!

Project description: Not available

| S-EPMC8690331 | biostudies-literature

"It's disappointing and it's pretty frustrating, because it feels like it's something that will never go away." A qualitative study exploring individuals' beliefs and experiences of Achilles tendinopathy.

Project description:BACKGROUND:Achilles tendinopathy (AT) is a common and often persistent musculoskeletal disorder affecting both athletic and non-athletic populations. Despite the relatively high incidence there is little insight into the impact and perceptions of tendinopathy from the individual's perspective. Increased awareness of the impact and perceptions around individuals' experiences with Achilles tendinopathy may provide crucial insights for the management of what is often a complex, persistent, and disabling MSK disorder. PURPOSE:To qualitatively explore the lived experiences of individuals with AT. DESIGN:A qualitative, interpretive description design was performed using semi-structured telephone interviews. METHODS:Semi-structured interviews were conducted on 15 participants (8 male and 7 female) with AT. Thematic analysis was performed using the guidelines laid out by Braun and Clarke. The study has been reported in accordance with the consolidated criteria for reporting qualitative research (COREQ) checklist. RESULTS:Four main themes were identified from the data: 1) beliefs and perceptions surrounding AT: "If I'm over training or something, I don't really know", 2) the biopsychosocial impact of AT: "I think it restricts me in a lot of things that I would be able to do", 3) individuals' experiences with the management process: "You want it to happen now. You're doing all this stuff and it's just very slow progress", and 4) future prognosis and outlook in individuals with AT: "I see myself better". CONCLUSIONS:This study offers a unique insight into the profound impact and consequences of Achilles tendinopathy in a mixed sample of both athletic and non-athletic individuals. The findings of this study have important clinical implications. Specifically, it highlights the need for clinicians to recognize and adopt treatment approaches to embrace a more biopsychosocial approach for the management of tendinopathy.

| S-EPMC7259496 | biostudies-literature

Congenital uterovaginal abnormalities, it's embryogenesis, surgical management and clinical implications.

Project description:ObjectiveCongenital Mullerian duct malformations are a challenging group of conditions for surgeons and need surgical experience and skill. Accordingly, the aim of this study is to present the diagnosis, surgical management, and clinical implications of congenital uterovaginal abnormalities.MethodsBetween 1980 and 2015, 8 patients with congenital uterovaginal abnormalities were diagnosed. In one patient a unique case of an unusual horseshoe shaped double uterus communicating via a transverse canal along with agenesis of the cervix and vagina was noted, and utero-vaginal agenesis was diagnosed in 6 patients. Complete androgen insensitivity syndrome with its female phenotype associated with bilateral testicular tissue in the inguinal canal with an accompanying absence of the ovaries, uterus, uterine tubes, vagina, and an imperforate hymen, was diagnosed in one patient. Clinical examination of all the patients revealed well-developed secondary sexual characteristics. A modified McIndoe vaginoplasty procedure was the surgical treatment common to all patients to treat vaginal agenesis. The surgery was performed by a consultant (Dr. K.G. Paul) using the standardized surgical technique.ResultsAn unusual Mullerian duct anomaly, uterus bicornisacollis, was successfully corrected by uteroplasty and a new cervix was constructed. Complete vaginal agenesis was corrected by a modified McIndoe vaginoplasty technique. None of the patients had any significant post-operative complications.ConclusionKnowledge of congenital uterovaginal abnormalities diagnosed in this study is essential for surgeons, clinical anatomists, radiologists, and morphologists who may increase the success of their diagnostic evaluations and surgical approaches to the region.

| S-EPMC7494767 | biostudies-literature

Never too late? An advantage on tests of auditory attention extends to late bilinguals.

Project description:Recent studies, using predominantly visual tasks, indicate that early bilinguals tend to outperform monolinguals on attention tests. It remains less clear whether such advantages extend to those bilinguals who have acquired their second language later in life. We examined this question in 38 monolingual and 60 bilingual university students. The bilingual group was further subdivided into early childhood (ECB), late childhood (LCB), and early adulthood bilinguals (EAB). The assessment consisted of five subtests from the clinically validated Test of Everyday Attention (TEA). Overall, bilinguals outperformed monolinguals on auditory attention tests, but not on visual search tasks. The latter observation suggests that the differences between bilinguals and monolinguals are specific and not due to a generally higher cognitive performance in bilinguals. Within the bilingual group, ECB showed a larger advantage on attention switching, LCB/EAB on selective attention. We conclude that the effects of bilingualism extend into the auditory domain and are not confined to childhood bilinguals, although their scope might be slightly different in early and late bilinguals.

| S-EPMC4033267 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data