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Nature Genetics Nov 2017Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645...
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) accounted for 8% of cases, including ∼3% of isolated CHD patients and ∼28% with both neurodevelopmental and extra-cardiac congenital anomalies. Seven genes surpassed thresholds for genome-wide significance, and 12 genes not previously implicated in CHD had >70% probability of being disease related. DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found.
Topics: Adult; Autistic Disorder; Cardiac Myosins; Case-Control Studies; Child; Exome; Female; Gene Expression; Genetic Predisposition to Disease; Genome-Wide Association Study; Growth Differentiation Factor 1; Heart Defects, Congenital; Heterozygote; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Male; Mutation; Myosin Heavy Chains; Pedigree; Risk; Vascular Endothelial Growth Factor Receptor-3
PubMed: 28991257
DOI: 10.1038/ng.3970 -
Journal of Cardiovascular Ultrasound Mar 2015
PubMed: 25883760
DOI: 10.4250/jcu.2015.23.1.54 -
World Journal of Clinical Cases Apr 2022Shone's complex is a rare syndrome characterized by congenital left heart defects that can differ among the patients.
BACKGROUND
Shone's complex is a rare syndrome characterized by congenital left heart defects that can differ among the patients.
AIM
To use echocardiography in the diagnosis of Shone's complex and analyze the causes of missed diagnosis and misdiagnosis.
METHODS
This was a retrospective study of patients who underwent echocardiography and repair surgery from February 14, 2008, to November 22, 2019. The patients were followed once a year at the outpatient clinic after surgery.
RESULTS
Sixty-six patients were included. The patients were 2.7 (0.8-5.6) years of age, and 54.5% were male. Ten (15.2%) had a history of heart surgery. The most common heart defect was the Annulo-Leaflet mitral ring (ALMR) (50/66, 75.8%), followed by coarctation of the aorta (CoA) (43/66, 65.2%). The patients had a variety of combinations of defects. Only two (3.0%) patients had all four defects. None of the patients had a family history of congenital heart disease. The preoperative echocardiographic findings were examined against the intraoperative findings. Echocardiography missed an ALMR in 31 patients (47.0%), a parachute mitral valve (PMV) in one patient (1.5%), subaortic stenosis in one patient (1.5%), and CoA in two patients (3.0%).
CONCLUSION
Echocardiography is an effective method to diagnose the Shone's complex. Due to this disease's complexity and interindividual variability, Improving the understanding of the disease can reduce misdiagnosis and missed diagnosis.
PubMed: 35611202
DOI: 10.12998/wjcc.v10.i11.3369 -
Journal of Cardiothoracic Surgery Feb 2022Shone's complex is a rare congenital heart disease consisting of a variety of left ventricular inflow and outflow tract lesions. Patients typically present in childhood...
BACKGROUND
Shone's complex is a rare congenital heart disease consisting of a variety of left ventricular inflow and outflow tract lesions. Patients typically present in childhood requiring early surgical intervention; however, with improved surgical techniques, these patients are surviving later into adulthood. This increased survival comes with a new set of medical complications that providers need to be aware of.
CASE PRESENTATION
A 27 year old man with a complex cardiac history including an incomplete Shone's complex and persistent symptomatic atrial flutter presented with sharp chest pain radiating to his back. He was found to have type A aortic dissection on imaging in the setting of severe patient-prosthesis mismatch. He had multiple valvular surgeries in childhood. The patient was being followed-up as an outpatient for an enlarging chronic aortic aneurysm and was non-compliant with his medications. He was taken emergently to the operating room for a skirted Bentall procedure, aortic valve replacement, and right sided MAZE.
CONCLUSIONS
Shone's complex is a rare congenital heart disease associated with significant morbidities including atrial flutter, patient-prosthesis mismatch, and aortic dissection. As patients continue to live longer into adulthood with this disease, it is important to raise awareness of this rare syndrome for providers and highlight its potential complications. Further research is needed to determine appropriate guidelines for when to intervene on aortopathy-associated CHD.
Topics: Adult; Aortic Dissection; Aortic Valve; Heart Defects, Congenital; Heart Valve Prosthesis; Heart Ventricles; Humans; Male
PubMed: 35197098
DOI: 10.1186/s13019-022-01768-z -
Annual Review of Vision Science Sep 2023Patterns of brain activity contain meaningful information about the perceived world. Recent decades have welcomed a new era in neural analyses, with computational... (Review)
Review
Patterns of brain activity contain meaningful information about the perceived world. Recent decades have welcomed a new era in neural analyses, with computational techniques from machine learning applied to neural data to decode information represented in the brain. In this article, we review how decoding approaches have advanced our understanding of visual representations and discuss efforts to characterize both the complexity and the behavioral relevance of these representations. We outline the current consensus regarding the spatiotemporal structure of visual representations and review recent findings that suggest that visual representations are at once robust to perturbations, yet sensitive to different mental states. Beyond representations of the physical world, recent decoding work has shone a light on how the brain instantiates internally generated states, for example, during imagery and prediction. Going forward, decoding has remarkable potential to assess the functional relevance of visual representations for human behavior, reveal how representations change across development and during aging, and uncover their presentation in various mental disorders.
Topics: Humans; Aging; Brain; Machine Learning
PubMed: 36889254
DOI: 10.1146/annurev-vision-100120-025301 -
Future Healthcare Journal Mar 2021It is widely accepted that race and related social factors largely underpin patients' access to healthcare, and even have a direct impact on patients' care. The reality...
It is widely accepted that race and related social factors largely underpin patients' access to healthcare, and even have a direct impact on patients' care. The reality that racism is the source of these health inequalities, and that racism within health organisations compounds the issue, undeniably means that racism is a public health issue. The ongoing pandemic has not only shone a light on underlying issues that have silently plagued the Black, Asian and minority ethnic community but has helped us understand the devastating impact of racism. Closing the gap in these populations is required to ensuring equitable access. This article aims to highlight how racism impacts people of colour within the healthcare system and beyond and calls for dismantling of the structural racism that exists within the NHS and other UK organisations.
PubMed: 33791455
DOI: 10.7861/fhj.2020-0225 -
The FEBS Journal Jun 2015Bacteria possess complex and varying cell walls with many surface exposed proteins. Sortases are responsible for the covalent attachment of specific proteins to the... (Review)
Review
Bacteria possess complex and varying cell walls with many surface exposed proteins. Sortases are responsible for the covalent attachment of specific proteins to the peptidoglycan of the cell wall of Gram-positive bacteria. Sortase A of Staphylococcus aureus, which is seen as the archetypal sortase, has been shown to be essential for pathogenesis and has therefore received much attention as a potential target for novel therapeutics. Being widely present in Gram-positive bacteria, it is likely that other Gram-positive pathogens also require sortases for their pathogenesis. Sortases have also been shown to be of significant use in a range of industrial applications. We review current knowledge of the sortase family in terms of their structures, functions and mechanisms and summarize work towards their use as antibacterial targets and microbiological tools.
Topics: Aminoacyltransferases; Animals; Anti-Bacterial Agents; Bacteria; Bacterial Infections; Bacterial Proteins; Cysteine Endopeptidases; Humans; Protein Binding; Protein Conformation; Species Specificity; Substrate Specificity
PubMed: 25845800
DOI: 10.1111/febs.13288 -
Frontiers in Genetics 2022Tumors are a class of diseases characterized by altered genetic information and uncontrolled growth. Sequencing technology provide researchers with a better way to... (Review)
Review
Tumors are a class of diseases characterized by altered genetic information and uncontrolled growth. Sequencing technology provide researchers with a better way to explore specific tumor pathogenesis. In recent years, single-cell sequencing technology has shone in tumor research, especially in the study of liver cancer, revealing phenomena that were unexplored by previous studies. Single-cell sequencing (SCS) is a technique for sequencing the cellular genome, transcriptome, epigenome, proteomics, or metabolomics after dissociation of tissues into single cells. Compared with traditional bulk sequencing, single-cell sequencing can dissect human tumors at single-cell resolution, finely delineate different cell types, and reveal the heterogeneity of tumor cells. In view of the diverse pathological types and complex pathogenesis of hepatocellular carcinoma (HCC), the study of the heterogeneity among tumor cells can help improve its clinical diagnosis, treatment and prognostic judgment. On this basis, SCS has revolutionized our understanding of tumor heterogeneity, tumor immune microenvironment, and clonal evolution of tumor cells. This review summarizes the basic process and development of single-cell sequencing technology and its increasing role in the field of hepatocellular carcinoma.
PubMed: 36303541
DOI: 10.3389/fgene.2022.996890 -
Annals of Medicine and Surgery (2012) Nov 2021and importance: Shone complex is a congenital heart defect consisting of four obstructive defects in the left heart: a mitral supravalvular ring, sub-aortic stenosis,...
INTRODUCTION
and importance: Shone complex is a congenital heart defect consisting of four obstructive defects in the left heart: a mitral supravalvular ring, sub-aortic stenosis, parachute mitral valve, and coarctation of the aorta (CoA), which affects only a small minority of people.
CASE PRESENTATION
We report the case of a 25-year-old woman with a past medical history of moderate mitral stenosis, since she was 10-year-old with uncontrolled high blood pressure, treated with nicardipine. admitted to our emergency department with high blood pressure: 190/80 mmhg, in whom The transthoracic echocardiography (TTE) revealed: sub-mitral membrane, with a single sub-papillary muscle, and coarctation of the aorta and the CT scan showed narrowed aortic arch and a left superior vena cava allowing to retain shone syndrome as the main diagnosis. The patient was treated with an antihypertensive treatment combining (perindopril/indapamide/amlodipine) while waiting for surgery.
CLINICAL DISCUSSION
In this mini-review, we aim to describe this rare pathological condition its pathophysiological thoughts, and the way to diagnosis this complex early.
CONCLUSION
Treatment required the coordinated efforts of a team of specialists. It could be either surgical with different method or by Trans catheter treatments.
PubMed: 34729182
DOI: 10.1016/j.amsu.2021.102955 -
BMJ Case Reports Feb 2022A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone's complex postnatally, underwent bilateral pulmonary artery banding,...
A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone's complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She was found to have bilateral megaureters, left hydronephrosis and asplenia. She was on lifelong prophylactic antibiotics and extra vaccines. She had two episodes of pseudo-obstruction of the small bowel, but barium follow-through was normal. She also had a large bowel obstruction and work-up for Hirschsprung disease confirmed the diagnosis. It was noticed that she had developmental delay and hypotonia, together with subtle dysmorphism. She also had failure to thrive and difficulty feeding. Exome sequencing revealed a diagnosis of Mowat-Wilson syndrome (MWS). This case shows a previously undescribed association of Shone's complex, a complex left-sided obstructive heart defect, and MWS. It also highlights the usefulness of trio-exome sequencing in detecting such rare mutations.
Topics: Cardiac Surgical Procedures; Ductus Arteriosus, Patent; Facies; Female; Heart Defects, Congenital; Hirschsprung Disease; Humans; Infant; Intellectual Disability; Microcephaly
PubMed: 35140087
DOI: 10.1136/bcr-2021-246913