Diversity in heritable disorders of connective tissue at a single center

Hsu, Rai Hseng; Chien, Yin‐Hsiu; Hwu, Wuh‐Liang; Lee, Ni‐Chung

doi:10.1080/03008207.2020.1816994

Cited by 6 publications

(3 citation statements)

References 17 publications

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“…Although the pathophysiology of KC remains poorly understood until today, changes in collagen structures in KC are eminent. Structural alterations of collagens play a pivotal role in the pathogenesis of connective tissue disorders such as Marfan's syndrome, Ehlers-Danlos syndrome and osteogenesis imperfecta [55]. These alterations lead to compromised connective tissue strength and abnormal vascular elasticity [56][57][58].…”

Section: Discussionmentioning

confidence: 99%

Reduced Retinal Blood Vessel Densities Measured by Optical Coherence Tomography Angiography in Keratoconus Patients Are Negatively Correlated with Keratoconus Severity

Leclaire,

Storp,

Lahme

et al. 2024

Diagnostics

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Keratoconus (KC) is the most common corneal ectasia. Optical coherence tomography angiography (OCT-A) is a relatively new non-invasive imaging technique that allows the visualization and quantification of retinal and choriocapillary blood vessels. The aim of this study is to assess retinal and choriocapillary vessel density (VD) differences between KC patients and healthy controls and to investigate correlations between VD and KC severity. Fifty-two eyes were included in this exploratory study: twenty-six eyes from 26 KC patients and twenty-six eyes from 26 age- and gender-matched healthy controls. All patients underwent Scheimpflug corneal topography with Pentacam, axis lengths measurement and optical coherence tomography angiography (OCT-A). The thinnest spot in corneal pachymetry, maximum K (Kmax) and KC severity indices from the Belin/Ambrósio enhanced ectasia display (BAD) were also assessed. There was a distinct reduction particularly in the retinal VD of the superficial capillary plexus (SCP). Correlation analyses showed strong and moderate negative correlations between the VD in the macular SCP and BAD KC scores and between the SCP VD and Kmax. There was no difference in retinal thickness between the KC and healthy controls. With this study, further evidence for altered VD measurements by OCT-A in KC patients is given. For the first time, we demonstrated negative correlations between BAD KC scores and retinal blood vessel alterations. A major limitation of the study is the relatively small sample size. Since an artefactual reduction of the quantitative OCT-A measurements due to irregular corneal topography in KC must be assumed, it remains to be investigated whether there are also actual changes in the retinal microcirculation in KC.

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Section: Discussionmentioning

confidence: 99%

Reduced Retinal Blood Vessel Densities Measured by Optical Coherence Tomography Angiography in Keratoconus Patients Are Negatively Correlated with Keratoconus Severity

Leclaire,

Storp,

Lahme

et al. 2024

Diagnostics

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“…These expression outliers are either directly linked to variants in their promoters, enhancers, coding, and intronic regions or due to a cascade effect attributed to dysregulation of other genes, revealing a transcriptomic 'signature'. 76 Finally, the least common scenario refers to allele imbalances detected by analysing allele-specific expression Connective tissue disorder 50% 32862725 89 Epithelial adhesion disorder 95-100% 34597860 79 ; 32484238 90 Keratinizing disorder 80-90% 31953843 91 ; 29444371 92 ; 30578701 93 DNA repair disorder 43% 27004399 94 Progeroid disorder 20-40% 31829210 95 Pigmentary disorder 30-80% 34897530 96 ; 29402968 97 ; 29345,414 98 Tumour predisposition disorder 27% 33050356 99 Nail (ASE). ASE implies the preferential expression of one of the mother's or father's alleles with the silencing of others.…”

Section: Rna-based Approach: the Transcriptomementioning

confidence: 99%

Clinical and molecular diagnosis of genodermatoses: Review and perspectives

Salik

Richert

Smits

2022

Acad Dermatol Venereol

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Genodermatoses are a complex and heterogeneous group of genetic skin disorders characterized by variable expression and clinical and genetic heterogeneity, rendering their diagnosis challenging. DNA‐based techniques, like whole‐exome sequencing, can establish a diagnosis in 50% of cases. RNA‐sequencing is emerging as an attractive tool that can obtain information regarding gene expression while integrating functional genomic data with regard to the interpretation of variants. This increases the diagnostic rate by an additional 10–15%. In the present review, we detail the clinical steps involved in the diagnosis of genodermatoses, as well as the current DNA‐based technologies available to clinicians. Herein, the intention is to facilitate a better understanding of the possibilities and limitations of these diagnostic technologies. In addition, this review could guide dermatologists through new emerging techniques, such as RNA‐sequencing and its applications to familiarizing them with future techniques. Currently, this multi‐omics approach is likely the best strategy designed to promote the diagnosis of patients with genodermatoses and discover new skin disease genes that could result in novel targeted therapies.

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“…В основе ДСТ лежат мутации генов, которые регулируют синтез основного вещества и коллагеновых волокон соединительной ткани [11][12][13][14][15]. Клинические синдромальные проявления ДСТ, в частности, со стороны позвоночника у детей разнообразны [16][17][18][19]. Внешний вид таких больных и повышенная ломкость костей скелета сочетаются с патологией внутренних органов.…”

Section: Introductionunclassified

Сomprehensive restorative treatment of posture disorders in children with connective tissue dysplasia

Метальников

Ten

Strozenko

2022

RPJ

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Aim is to develop a comprehensive program of restorative treatment of posture disorders in children against the background of connective tissue dysplasia. Materials and methods. Ninety children aged from 4 to 17 years were under observation. Of these, 60 patients with connective tissue dysplasia (CTD) were divided into an experimental group (30 children) and a comparison group (30 children). These CTD children were under medical supervision from 2010 to 2020. The reference group consisted of 30 conditionally healthy children of the same age. All children were comprehensively examined. All СTD patients during the entire period of dispensary observation underwent comprehensive restorative treatment using methods of physical therapy, swimming and teaching patients at the educational school “Posture Correction” for children. The data obtained were processed statistically. Results. Characteristic signs of hereditary disorders of connective tissue development were revealed in all CTD children. An increase in the concentration of oxyproline in the blood serum and an increase in urinary excretion of oxyproline and calcium were found. After 5 years from the start of rehabilitation measures, there was an increase in endurance of the back muscles, a minimum number of pathological manifestations, including arthritis, arthralgic syndromes, coccygodynia. Ten years later, at the age of 14 years, the children of the experimental group formed a good posture, a well-off muscular corset and a minimal number of complications. Patients of the comparison group during the observation process more often complained of a feeling of fatigue, prolonged, incurable pain in the thoracic and lumbar spine, weak muscle corset. Conclusion. If CTD signs are detected in children, long-term dispensary observation should be carried out in outpatient conditions with the inclusion of a set of exercises of physical therapy and other rehabilitation measures. With the initial CTD manifestations on the part of the spine, children should be recommended to use a back support or a semi-rigid corset for the duration of increased loads, lessons, and long training sessions.

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Diversity in heritable disorders of connective tissue at a single center

Cited by 6 publications

References 17 publications

Reduced Retinal Blood Vessel Densities Measured by Optical Coherence Tomography Angiography in Keratoconus Patients Are Negatively Correlated with Keratoconus Severity

Reduced Retinal Blood Vessel Densities Measured by Optical Coherence Tomography Angiography in Keratoconus Patients Are Negatively Correlated with Keratoconus Severity

Clinical and molecular diagnosis of genodermatoses: Review and perspectives

Сomprehensive restorative treatment of posture disorders in children with connective tissue dysplasia

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