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Archives of Cardiovascular Diseases May 2023Myocardial infarction is rare in children, teenagers and young adults (aged<20 years). The most common aetiologies identified include Kawasaki disease, familial... (Review)
Review
Myocardial infarction is rare in children, teenagers and young adults (aged<20 years). The most common aetiologies identified include Kawasaki disease, familial hypercholesterolaemia, collagen vascular disease-induced coronary arteritis, substance abuse (cocaine, glue sniffing), trauma, complications of congenital heart disease surgery, genetic disorders (such as progeria), coronary artery embolism, occult malignancy and several other rare conditions. Nephrotic syndrome is a very rare cause of myocardial infarction, but it is probably underestimated. The purpose of this review was to determine the current state of knowledge on acute coronary syndrome related to nephrotic syndrome. We thus performed a comprehensive structured literature search of the Medline database for articles published between January 1st, 1969 and December 31st, 2021. Myocardial infarction in young adults can be broadly divided into two groups: cases of angiographically normal coronary arteries; and cases of coronary artery disease of varying aetiology. There are several possible mechanisms underlying the association between acute coronary syndrome and nephrotic syndrome: (1) coronary thrombosis related to hypercoagulability and/or platelet hyperactivity; (2) atherosclerosis related to hyperlipidaemia; and (3) drug treatment. All of these mechanisms must be evaluated systematically in the acute phase of disease because they evolve rapidly with the treatment of nephrotic syndrome. In this review, we propose a decision algorithm for the management of acute coronary syndrome in the context of nephrotic syndrome. The final part of the review presents the short- and medium-term therapeutic strategies available. Thromboembolism related to nephrotic syndrome is a rare non-atherosclerotic cause of acute coronary syndrome, and prospective studies are needed to evaluate a systematic approach with personalized therapeutic strategies.
Topics: Humans; Adolescent; Young Adult; Child; Acute Coronary Syndrome; Nephrotic Syndrome; Myocardial Infarction; Coronary Artery Disease; Atherosclerosis
PubMed: 37088677
DOI: 10.1016/j.acvd.2023.03.002 -
National Cancer Institute Monograph 1982A systematic review of the more than 2,000 genetic loci of man cataloged by McKusick indicated that approximately 7% may play a role in modulating the rates of... (Review)
Review
A systematic review of the more than 2,000 genetic loci of man cataloged by McKusick indicated that approximately 7% may play a role in modulating the rates of development of various aspects of the senescent phenotype. Assuming an upper limit of about 100,000 loci in man, numerous alleles at approximately 7,000 loci could be contributing to characteristic patterns of aging in individual human beings. Point mutations or chromosomal aberrations involving such loci may result in various progeroid syndromes. These have been classified into two categories: segmental progeroid syndromes, which involve multiple aspects of the senescent phenotype, and unimodal progeroid syndromes, in which predominantly one aspect of the phenotype is involved. Two different examples of segmental progeroid syndromes were discussed: the Werner syndrome (an autosomal recessive) and the Down syndrome (trisomy 21). Examples of unimodal progeroid syndromes included familial hypercholesterolemia (accelerated atherogenesis), xeroderma pigmentosum (acceleration of skin aging, including age-related neoplasms), and certain forms of intestinal polyposis (acceleration of adenocarcinoma of the colon). It is remarkable and encouraging that the biochemical genetic basis of many progeroid syndromes, including all of those mentioned above, may be amenable to investigation with cultured mesenchymal somatic cells from individual subjects. For example, cells from patients with the Werner's syndrome have a striking limitation of their in vitro replicative life-spans and undergo extensive chromosomal rearrangements. These abnormalities are presumably related to an enzyme deficiency which, in principle, could be identified by biochemical studies of cultured cells.
Topics: Alleles; Chromosome Aberrations; Chromosome Mapping; Down Syndrome; Genes; Genes, Recessive; Humans; Hyperlipoproteinemia Type II; Intestinal Polyps; Mutation; Phenotype; Progeria; Skin Neoplasms; Syndrome; Werner Syndrome; Xeroderma Pigmentosum
PubMed: 6214719
DOI: No ID Found -
Journal of Neuromuscular Diseases 2021Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases....
BACKGROUND
Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based.
OBJECTIVE
The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production.
METHODS
Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence.
RESULTS
From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable.
CONCLUSIONS
We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect's Genome Phenome Analysis Platform.
Topics: Cardiomyopathies; Humans; Lamin Type A; Laminopathies; Lipodystrophy; Muscular Dystrophies; Phenotype; Rare Diseases
PubMed: 33682723
DOI: 10.3233/JND-200596 -
Orthodontics & Craniofacial Research May 2021The sella turcica is an important anatomical reference used in orthodontics for the evaluation of craniofacial growth. Studies have found variations in the sella turcica... (Review)
Review
The sella turcica is an important anatomical reference used in orthodontics for the evaluation of craniofacial growth. Studies have found variations in the sella turcica morphology in patients with syndromes affecting the craniofacial complex. This review aims to determine whether genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and whether there is a pattern of malformation which is consistent within each syndrome. An electronic database search was conducted to identify relevant studies. We included primary studies describing the morphology of the sella turcica on lateral radiographs in human subjects with genetic syndromes involving the craniofacial complex. No restrictions were placed on language or timeframe. PROSPERO registration CRD42019148060. Thirty-eight studies were included in this review. A 'J'-shaped sella was found in patients with Hutchinson-Gilford-Progeria syndrome and other syndromes. A bulbous dorsum sellae was highly prevalent Cleidocranial dysplasia, and a bulbous dorsum sellae and uneven contours of the clivus was found in Cri du chat syndrome. A steep clivus was described in patients with Axenfeld-Rieger syndrome. An oblique anterior wall was the most frequent malformation found in Down's syndrome. Genetic syndromes affecting the craniofacial complex are associated with abnormal morphology of the radiographic sella turcica. Clinicians should be observant of abnormal sella turcica morphology which can be a sign of undiagnosed or subclinical syndromes. More high-quality studies are needed which use standardized and objective methods of determining the morphology of the sella turcica.
Topics: Cephalometry; Down Syndrome; Eye Abnormalities; Humans; Radiography; Sella Turcica
PubMed: 32920986
DOI: 10.1111/ocr.12426