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The EMBO Journal Jul 2013Cardiogenesis in mammals requires exquisite control of gene expression and faulty regulation of transcriptional programs underpins congenital heart disease (CHD), the... (Review)
Review
Cardiogenesis in mammals requires exquisite control of gene expression and faulty regulation of transcriptional programs underpins congenital heart disease (CHD), the most common defect among live births. Similarly, many adult cardiac diseases involve transcriptional changes and sometimes have a developmental basis. Long non-coding RNAs (lncRNAs) are a novel class of transcripts that regulate cellular processes by controlling gene expression; however, detailed insights into their biological and mechanistic functions are only beginning to emerge. Here, we discuss recent findings suggesting that lncRNAs are important factors in regulation of mammalian cardiogenesis and in the pathogenesis of CHD as well as adult cardiac disease. We also outline potential methodological and conceptual considerations for future studies of lncRNAs in the heart and other contexts.
Topics: Adult; Gene Expression Regulation, Developmental; Heart Diseases; Humans; RNA, Long Noncoding; Transcription, Genetic
PubMed: 23756463
DOI: 10.1038/emboj.2013.134 -
British Journal of Sports Medicine Sep 1982Osteochondroses are disorders of primary and secondary growth centres, or lesions at the apophyseal or epiphyseal growth areas of bones. Although there are many types of...
Osteochondroses are disorders of primary and secondary growth centres, or lesions at the apophyseal or epiphyseal growth areas of bones. Although there are many types of osteochondroses, the history, clinical symptoms and findings as well as radiological findings are typical. Physical exercise is one of the factors that provokes symptoms. In a series of 185 osteochondroses in active young athletes, there were 18 different disorders. The commonest were Osgood-Schlatter's disease, Sever's disease, osteochondritis dissecans of the femoral condyles, various other patellar osteochondroses and Scheuermann's disease. Most of the athletes were from individual events; track and field sports (53.5%), cross-country skiing (8.1%), gymnastics (3.2%) and power events (2.7%). Of the team sports soccer produced the most (20.0%). The treatment was conservative in 84.3% and operative in 15.7%. The duration of symptoms in these athletes persisted in about 43% for less than one year and in 57% for more. The late changes of osteodhondroses do not cause serious risks for a normal life, if the treatment is active and the follow-up efficient.
Topics: Adolescent; Adult; Age Factors; Athletic Injuries; Child; Female; Humans; Male; Osteochondritis; Sex Factors
PubMed: 7139227
DOI: 10.1136/bjsm.16.3.161 -
Global Spine Journal Sep 2019Narrative review of available literature. (Review)
Review
STUDY DESIGN
Narrative review of available literature.
OBJECTIVE
To summarize current trends in pathogenesis and management of spinal epidural lipomatosis (SEL) and suggest areas where more research would be of benefit.
METHODS
The available literature relevant to SEL was reviewed. PubMed, Medline, OVID, EMBASE, Cochrane, and Google Scholar were used to review the literature. Institutional review board approval is not applicable for this study.
RESULTS
This article clearly summarizes current trends in the pathogenesis and management of SEL.
CONCLUSIONS
Possible etiologies of SEL include exogenous steroid use, endogenous steroid hormonal disease, obesity, surgery induced, and idiopathic disease. Comorbidities such as acquired immunodeficiency syndrome and Scheuermann's disease have also been implicated in the pathogenesis of SEL. Steroid-induced SEL seems to have a proclivity for the thoracic region of the spine and has a higher incidence of paraplegia when compared with other forms. Several treatment modalities exist for SEL and are dictated by the underlying cause of the disorder. These include weight reduction, cessation of steroid medications, treatment of underlying endocrine abnormalities, and surgical decompression. Conservative treatments generally aim to decrease the thickness of adipose tissue in the epidural space, but the majority of patients tend to undergo surgical decompression to relieve neurologic symptoms. Surgical decompression provides a statistically significant reduction in symptoms, but postoperative mortality is high, influenced primarily by the patient's preoperative comorbidities. Physicians should consider the underlying cause of SEL in a given patient before pursuing specific treatment modalities, but alarm symptoms, such as the development of acute cauda equina syndrome, should likely be treated with urgent surgical decompression.
PubMed: 31448201
DOI: 10.1177/2192568218793617 -
Scientific Reports Jun 2022Reference cell atlases powered by single cell and spatial transcriptomics technologies are becoming available to study healthy and diseased tissue at single cell...
Reference cell atlases powered by single cell and spatial transcriptomics technologies are becoming available to study healthy and diseased tissue at single cell resolution. One important use of these data resources is to compare cell types from new dataset with cell types in the reference atlases to evaluate their phenotypic similarities and differences, for example, for identifying novel cell types under disease conditions. For this purpose, rigorously-validated computational algorithms are needed to perform these cell type matching tasks that can compare datasets from different experiment platforms and sample types. Here, we present significant enhancements to FR-Match (v2.0)-a multivariate nonparametric statistical testing approach for matching cell types in query datasets to reference atlases. FR-Match v2.0 includes a normalization procedure to facilitate cross-platform cluster-level comparisons (e.g., plate-based SMART-seq and droplet-based 10X Chromium single cell and single nucleus RNA-seq and spatial transcriptomics) and extends the pipeline to also allow cell-level matching. In the use cases evaluated, FR-Match showed robust and accurate performance for identifying common and novel cell types across tissue regions, for discovering sub-optimally clustered cell types, and for cross-platform and cross-sample cell type matching.
Topics: Algorithms; Gene Expression Profiling; RNA; RNA-Seq; Sequence Analysis, RNA; Single-Cell Analysis
PubMed: 35705694
DOI: 10.1038/s41598-022-14192-z -
Viruses Sep 2023The ability of each new SARS-CoV-2 variant to evade host humoral immunity is the focus of intense research. Each variant may also harbor unique replication capabilities...
The ability of each new SARS-CoV-2 variant to evade host humoral immunity is the focus of intense research. Each variant may also harbor unique replication capabilities relevant for disease and transmission. Here, we demonstrate a new approach to assessing viral replication kinetics using real-time cell analysis (RTCA). Virus-induced cell death is measured in real time as changes in electrical impedance through cell monolayers while images are acquired at defined intervals via an onboard microscope and camera. Using this system, we quantified replication kinetics of five clinically important viral variants: WA1/2020 (ancestral), Delta, and Omicron subvariants BA.1, BA.4, and BA.5. Multiple measures proved useful in variant replication comparisons, including the elapsed time to, and the slope at, the maximum rate of cell death. Important findings include significantly weaker replication kinetics of BA.1 by all measures, while BA.5 harbored replication kinetics at or near ancestral levels, suggesting evolution to regain replicative capacity, and both an altered profile of cell killing and enhanced fusogenicity of the Delta variant. Together, these data show that RTCA is a robust method to assess replicative capacity of any given SARS-CoV-2 variant rapidly and quantitatively, which may be useful in assessment of newly emerging variants.
Topics: Humans; SARS-CoV-2; COVID-19; Cell Death; Apoptosis
PubMed: 37766343
DOI: 10.3390/v15091937 -
Cureus Nov 2022Scheuermann kyphosis, also known as Scheuermann disease, juvenile kyphosis, or juvenile discogenic disease, is a condition involving an abnormal, excessive curvature of...
Scheuermann kyphosis, also known as Scheuermann disease, juvenile kyphosis, or juvenile discogenic disease, is a condition involving an abnormal, excessive curvature of the spine. It involves both the vertebral bodies and discs of the spine and is characterized by anterior wedging of greater than or equal to 5 degrees in three or more adjacent vertebral bodies. Type 1 Scheuermann's disease involves the thoracic spine, whereas type 2 involves both the thoracic and lumbar spine. Although no definitive cause for Scheuermann's disease has been found, we have reported a case that may explain further about this disease. This article elucidates a case of a 19-year-old boy experiencing pain in the lower back and showing various signs and symptoms of Scheuermann's disease and the diagnosis and steps taken by doctors toward its treatment.
PubMed: 36579214
DOI: 10.7759/cureus.31803 -
Spine Surgery and Related Research 2022Adolescent idiopathic scoliosis (AIS) and Scheuermann's kyphosis (SK) are the most common types of spinal deformities in adolescents, and both have substantial... (Review)
Review
Disease-Specific Outcome Measures Evaluating the Health-Related Quality of Life of Children and Adolescents with Idiopathic Scoliosis and Scheuermann's Kyphosis: A Literature Review.
Adolescent idiopathic scoliosis (AIS) and Scheuermann's kyphosis (SK) are the most common types of spinal deformities in adolescents, and both have substantial ramifications on health-related quality of life (HRQoL) parameters. Various questionnaires have been developed to assess HRQoL in age-group populations with spinal deformity. Nevertheless, there remains a lack of consensus across the literature as to which instrument is the most suitable for evaluating the HRQoL of this cohort. Thus, this literature review was conducted to present disease-specific questionnaires for children and adolescents with AIS and SK to provide their psychometric characteristics (validity, reliability, and responsiveness) across different languages. A literature search was performed in the Medline (PubMed), Scopus, EMBASE, and Google Scholar databases. Studies that outlined the development and application of questionnaires evaluating HRQoL of children and adolescents with spinal deformity were included, and data on their validity and reliability in different translated languages were collected. A total of 10 disease-specific questionnaires were identified. Except for one questionnaire that was a proxy-reported measure, the other questionnaires were self-reported. We determined that selecting the proper questionnaire for clinical and research purposes requires careful consideration of various factors including the type of treatment intervention planned as well as various patient demographic factors. For children with early-onset scoliosis, the ideal questionnaire to evaluate their HRQoL is the Early-Onset Scoliosis Questionnaire-24. For adolescents with AIS and SK who are potential candidates for surgical intervention, the use of Scoliosis Research Society-22, Scoliosis Japanese-27, and Quality of Life Profile Spinal Deformity questionnaires is appropriate. For patients who are under nonsurgical treatment, the Brace Questionnaire and Italian Spine Youth Quality of Life questionnaires can be utilized. Nonetheless, when the specific intent of a study is to evaluate the self-image perception of patients, the use of drawing-based questionnaires may be the optimal choice.
PubMed: 35800626
DOI: 10.22603/ssrr.2021-0237 -
Medizinische Klinik (Munich, Germany :... Feb 1999Antiphospholipid antibodies comprise a family of auto-antibodies mainly characterized by the presence of the lupus anticoagulant (LA) and anticardiolipin antibodies... (Review)
Review
BACKGROUND
Antiphospholipid antibodies comprise a family of auto-antibodies mainly characterized by the presence of the lupus anticoagulant (LA) and anticardiolipin antibodies (ACA).
CLINICAL APPEARANCE
The antiphospholipid antibody syndrome is defined by the appearance of frequent thromboses, repeated fetal losses and thrombocytopenia. Other clinical manifestations associated with APA include migraine, chorea, hemolytic anemia, heart valve disease, Budd-Chiari syndrome, perpetual pancreatitic episodes, intestinal infarctions, malignant hypertension, livedo reticularis, pre-eclampsia, fetal growth retardation or catastrophic antiphospholipid syndrome. LA and ACA occur in a variety of clinical conditions (secondary antiphospholipid antibody syndrome, SAPS), including other autoimmune disorders, infectious diseases, neoplastic disorders, in association with the use of certain drugs or in otherwise healthy individuals (primary antiphospholipid antibody syndrome, PAPS).
TREATMENT
Patients with thrombosis associated with APA should receive long-term anticoagulation therapy, whereas treatment of asymptomatic patients seems to be not indicated, because only approximately 10% of patients with APA may develop thrombotic complications. In patients with PAPS there is no evidence that the prophylactic administration of immunosuppressive drugs will prevent thromboembolic events.
Topics: Antibodies, Antiphospholipid; Antiphospholipid Syndrome; Diagnosis, Differential; Humans
PubMed: 10194954
DOI: 10.1007/BF03044707 -
Acta Orthopaedica May 2023Scheuermann's disease is characterized by kyphosis and frequently mild back pain. As the level of kyphosis may progress over time, also the level of pain may increase.... (Observational Study)
Observational Study
BACKGROUND AND PURPOSE
Scheuermann's disease is characterized by kyphosis and frequently mild back pain. As the level of kyphosis may progress over time, also the level of pain may increase. We evaluated the prevalence of Scheuermann's disease, and their pain, in Swedish elderly men.
PATIENTS AND METHODS
The Osteoporotic Fractures in Men (MrOS) Study Sweden (n = 3,014) is a population-based prospective observational study of community-living men aged 69-81 years. At baseline, participants answered a questionnaire including history of neck/back pain during the preceding year and characteristics of any pain (severity, sciatica, and neurological deficits). Lateral thoracic/lumbar spine radiographs were taken of 1,453 men. We included the 1,417 men with readable radiographs. Scheuermann's disease was defined as 3 or more consecutive vertebrae with > 5° wedging with no other explanation for the deformity.
RESULTS
92 of the 1,417 men (6.5%, 95% confidence interval 5.3-7.9) had Scheuermann's disease. 31% of men with and 31% without Scheuermann's disease reported neck pain (P = 0.90) and 51% with and 55% without the disease reported back pain (P = 0.4). Among men with Scheuermann's disease and back pain, none reported severe pain, 57% moderate, and 43% mild, compared with 7%, 50%, and 44% in those without Scheuermann's disease (P = 0.2). In those with Scheuermann's disease 63% reported no sciatica, 15% sciatica without neurological deficits, and 22% sciatica with neurological deficits, compared with 56%, 16%, and 28% in those without the disease (P = 0.6).
CONCLUSION
The prevalence of Scheuermann's disease in elderly Swedish men is between 5.3% and 7.9%. The condition seems at this age not to be associated with neck or back pain.
Topics: Male; Aged; Humans; Scheuermann Disease; Sweden; Cohort Studies; Back Pain; Lumbar Vertebrae; Sciatica
PubMed: 37170780
DOI: 10.2340/17453674.2023.12358 -
World Journal of Radiology Nov 2016To find accompanying anomalies of typical and atypical Scheuermann's disease (SD) is reported in the present study.
AIM
To find accompanying anomalies of typical and atypical Scheuermann's disease (SD) is reported in the present study.
METHODS
Study included 20 patients (16 men and 4 women) who had radiological imaging radiography, magnetic resonance imaging (MRI) and computed tomography, if available, due to back pain, curved back and low back pain in November 2011-February 2016 period. Patients were categorized into typical and atypical patterns based on the region involved. Thoracic kyphosis values were measured using real Cobb angle. Accompanying disc degeneration, herniations and spinal cord pathologies were studied using MRI.
RESULTS
Age of the patients ranged from 11.0 to 23.0 (mean 17.2 ± 3.0). Typical pattern of SD were detected in 15 patients while atypical pattern were detected in 5 patients. Cobb angle range was 40.2-67.2 (mean 55.5 ± 8.7) in typical Scheuermann's patients and 24.7-49.9 (mean 36.7 ± 10.8) in atypical ones. Intervertebral level was affected and had the measures of 3-8 (mean 5.3 ± 1.6) and 7-9 (mean 8.2 ± 0.8) in typical and atypical Scheuermann's patients, respectively. Level of degenerative disc disease in MRI was 1-7 discs (mean 4.1 ± 1.7) in typical patients and 5-10 discs (mean 7.6 ± 1.9) in atypical patients.
CONCLUSION
SD can be seen in typical and atypical patterns, typical being more frequent. Because degenerative disc diseases, herniations and cord pathologies such as syringomyelia can accompany SD (albeit more common in atypical pattern), it is necessary to evaluate these patients with plain radiography and MRI together.
PubMed: 27928471
DOI: 10.4329/wjr.v8.i11.895