scholarly journals Psychosocial Influence of Ehlers–Danlos Syndrome in Daily Life of Patients: A Qualitative Study

2020 ◽  
Vol 17 (17) ◽  
pp. 6425
Author(s):  
Inmaculada C. Palomo-Toucedo ◽  
Fatima Leon-Larios ◽  
María Reina-Bueno ◽  
María del Carmen Vázquez-Bautista ◽  
Pedro V. Munuera-Martínez ◽  
...  
Keyword(s):  
Daily Life ◽  
Psychological Impact ◽  
Healthcare Providers ◽  
Clinical Manifestations ◽  
Daily Basis ◽  
Joint Hypermobility ◽  
Ehlers Danlos Syndrome ◽  
The Social ◽  
The Impact ◽  
Danlos Syndrome

(1) Background: Ehlers–Danlos syndrome is a heterogeneous group of connective tissue disorders causing pain, fatigue, and disabilities; it has several implications for patients who suffer from this disease. The major clinical manifestations of EDS include joint hypermobility, skin hyperextensibility, and generalized conjunctive tissue fragility. This research aims to explore their perceptions and experiences about the phycological and social spheres. (2) Methods: Semistructured interviews were carried out. Participants were encouraged to talk about issues related to their disease by asking open-ended questions in one to one interview. The interview guide included questions to identify the syndrome’s influence on the social and psychological life of patients All interviews were audio recorded, fully transcribed, and analyzed using the phenomenological theoretical framework. The method of analysis was the thematic interpreting of perspectives and approaches. (3) Results: 31 individuals were proposed to participate in this study. Five patients refused to participate, so a total of 26 interviews were performed. Six themes ((1) Pain and its consequences on a daily basis; (2) The need to name the problem: the diagnosis; (3) Restructuring leisure and social relationships; (4) Limitations due to economic conditions; (5) Psychological impact of the disease situation; (6) Professional limitations) and four subthemes ((1) The value of partner support; (2) The weather influence on social plans; (3) Physical exercise and illness; (4) Support groups) emerged from the data. (4) Conclusions: This study revealed the impact of the syndrome on the social and daily life of patients, and not only in a physical level, but also in a psychological and social approach. These findings allow healthcare providers to know more about this disease in order to support and give advice to patients about the changes they will have to make.

scholarly journals The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiaolin Ni ◽  
Chenxi Jin ◽  
Yan Jiang ◽  
Ou Wang ◽  
Mei Li ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Minor Trauma ◽  
X Rays ◽  
Ehlers Danlos Syndrome ◽  
Chinese Origin ◽  
First Case ◽  
Blue Sclerae ◽  
Danlos Syndrome

Abstract Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. Case presentation A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. Conclusions This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

scholarly journals Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Claudia Celletti ◽  
Marco Castori ◽  
Giuseppe La Torre ◽  
Filippo Camerota
Keyword(s):  
Quality Of Life ◽  
Joint Hypermobility ◽  
Bivariate Analysis ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Cross Sectional ◽  
Ehlers Danlos Syndrome ◽  
The Impact ◽  
Danlos Syndrome

Ehlers-Danlos syndrome hypermobility type a. k. a. joint hypermobility syndrome (JHS/EDS-HT) is a hereditary musculoskeletal disorder associating generalized joint hypermobility with chronic pain. Anecdotal reports suggest a prominent role forkinesiophobiain disease manifestations, but no study has systematically addressed this point.Objective. To investigate the impact ofkinesiophobiaand its relationship with pain, fatigue, and quality of life in JHS/EDS-HT.Design. Cross-sectional study.Subjects/Patients. 42 patients (40 female and 2 male) with JHS/EDS-HT diagnosis following standardized diagnostic criteria were selected.Methods. Disease features were analyzed by means of specific questionnaires and scales evaluating kinesiophobia, pain, fatigue, and quality of life. The relationships among variables were investigated using the Spearman bivariate analysis.Results.Kinesiophobiaresulted predominantly in the patients’ sample. The values ofkinesiophobiadid not correlate with intensity of pain, quality of life, and (or) the single component of fatigue. A strong correlation was discovered betweenkinesiophobiaand general severity of fatigue.Conclusions. In JHS/EDS-HT, the onset of pain-avoiding strategies is related to the presence of pain but not to its intensity. The clear-cut correlation betweenkinesiophobiaand severity of fatigue suggests a direct link between musculoskeletal pain and fatigue. In JHS/EDS-HT, the underlying mechanism is likely to be facilitated by primary disease characteristics, including hypotonia.

scholarly journals Association between Postural Orthostatic Tachycardia Syndrome and Joint Hypermobility

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Alexis Javier Atuesta-Rodriguez ◽  
Yimy F. Medina-Velasquez ◽  
Orfa Motta ◽  
Maria Isabel Narvaez-Medina ◽  
Federico Rondon-Herrera
Keyword(s):  
Systemic Disease ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Postural Orthostatic Tachycardia Syndrome ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Type 3 ◽  
The Impact

Joint hypermobility syndrome refers to increased joint flexibility beyond the normal range of motion. This syndrome has a benign form known as Ehlers-Danlos syndrome type 3. This is a disorder in which hypermobility is accompanied by clinical manifestations in the absence of any systemic disease. A clinical finding associated with this condition is postural orthostatic tachycardia syndrome. The following is a rare case of joint hypermobility syndrome and postural orthostatic tachycardia syndrome. The relevance of this case report lies in the impact that this disease had on the patient’s quality of life and the limitation in the performance of activities of daily living.

scholarly journals The Impact and Strategy for Combating the Outbreak Covid-19 in Student

2021 ◽  
Vol 5 (4) ◽  
pp. 2145-2155
Author(s):  
Endin Mujahidin ◽  
Bahagia Bahagia ◽  
Fachruddin Majeri Mangunjaya ◽  
Rimun Wibowo
Keyword(s):  
Social Relations ◽  
Research Method ◽  
Social Impact ◽  
Psychological Impact ◽  
Qualitative Approach ◽  
Ibn Khaldun ◽  
The Social ◽  
The Impact ◽  
Depth Interviews ◽  
Method Approach

This study aims to find the social impact, morals, and strategies for dealing with COVID-19 among students. Another goal is to find out the social, religious and psychological impact of COVID-19 on students at Ibn Khaldun University, Bogor. The research method approach uses a descriptive qualitative approach. Data were collected by in-depth interviews with the head of the student class. The sample was selected through a purposive technique. The results were carefully examined through triangulation. The results showed that students could not establish social relations between students and did not participate in campus social organizations. Another finding, the Covid-19 outbreak has an impact on student morals because online meetings are more difficult to foster student morals because teachers do not meet students. In addition, students experience various stresses due to piling tasks and online learning does not face various obstacles such as difficulty communicating with lecturers and not understanding the material. Students take various ways to overcome stress such as listening to favourite music, watching YouTube, playing games, getting enough rest, eating favourite foods such as eating meatballs, straightening intentions, and also strengthening worship and getting closer to God.

Socio-Technical Approaches for Optimal Organizational Performance

2019 ◽  
pp. 39-70
Author(s):  
Tetiana Shmelova ◽  
Yuliya Sikirda
Keyword(s):  
Organizational Performance ◽  
Psychological Impact ◽  
Technical System ◽  
Civil Aviation ◽  
International Civil Aviation Organization ◽  
Social Psychological ◽  
The Social ◽  
External Management ◽  
The Impact

In this chapter, the authors present a socio-technical system for optimal organizational performance at aviation enterprises such as air navigation system as socio-technical system. The authors made an analysis of the International Civil Aviation Organization documents on risk assessment and the impact of the social environment on the aviation system. The authors obtained the results of the evaluation of non-professional factors: determination of the social-psychological impact on decision making of human-operator by identifying the preferences for organizational performance. The structural analysis of internal and external management environment of aviation enterprise was carried out. And, as follows from the analysis, inhomogeneous factors that influence the aviation activity were classified, formalized, and systematically generalized using set-theoretical approach. The influence of factors of internal and external management environment on the aviation enterprise's activity was determined.

scholarly journals Ehlers-Danlos syndrome presenting with primary nocturnal enuresis

2020 ◽  
Vol 13 (2) ◽  
pp. e231977
Author(s):  
Margarida Cunha ◽  
Mafalda Matias ◽  
Inês Marques
Keyword(s):  
Genetic Testing ◽  
Nocturnal Enuresis ◽  
Bladder Dysfunction ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Urinary Urgency ◽  
Beighton Score ◽  
Ehlers Danlos Syndrome ◽  
Primary Nocturnal Enuresis ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.

scholarly journals Increased augmentation index in patients with Ehlers-Danlos syndrome

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Maurice Roeder ◽  
Sira Thiel ◽  
Frederic Baumann ◽  
Noriane A. Sievi ◽  
Marianne Rohrbach ◽  
...  
Keyword(s):  
Arterial Stiffness ◽  
Augmentation Index ◽  
Positive Association ◽  
Joint Hypermobility ◽  
Applanation Tonometry ◽  
Classical Type ◽  
Healthy Controls ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascular disease progression (e.g. arterial aneurysms, dissections, and ruptures) in EDS patients are still missing. Recently, applanation tonometry derived augmentation index (AIx), an indirect marker of arterial stiffness, has shown to be positively associated with progression of aortic disease in Marfan syndrome. In this study, we assessed aortic AIx in patients with EDS and matched healthy controls. Methods We performed noninvasive applanation tonometry in 61 adults with EDS (43 women and 18 men aged 39.3 ± 14.6 years) and 61 age-, gender-, height-, and weight-matched healthy controls. Radial artery pulse waveforms were recorded and analyzed using the SphygmoCor System (AtCor Medical, Sydney, NSW, Australia). Calculated AIx was adjusted to a heart rate of 75/min. Groups were compared and association between AIx and EDS was determined by univariate and multivariate regression analysis. Results EDS patients were categorized in classical type EDS (34%), hypermobile type EDS (43%), vascular type EDS (5%), or remained unassignable (18%) due to overlapping features. EDS patients showed a significantly increased aortic AIx compared to healthy controls (22.8% ± 10.1 vs 14.8% ± 14.0, p < 0.001). EDS showed a positive association with AIx; independent of age, sex, height, blood pressure, medication, and pack years of smoking. Conclusions Patients with EDS showed elevated AIx, indicating increased arterial stiffness when compared to healthy controls. Further investigations are needed in order to assess the prognostic value of increased AIx for cardiovascular outcomes in patients with EDS.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers‐Danlos syndrome from benign joint hypermobility syndrome in patients

2014 ◽  
Vol 28 (11) ◽  
pp. 4668-4676 ◽  
Author(s):  
Rie Harboe Nielsen ◽  
Christian Couppé ◽  
Jacob Kildevang Jensen ◽  
Morten Raun Olsen ◽  
Katja Maria Heinemeier ◽  
...  
Keyword(s):  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Tendon Stiffness ◽  
Benign Joint Hypermobility Syndrome ◽  
Danlos Syndrome

scholarly journals Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Trinh Hermanns-Lê ◽  
Marie-Annick Reginster ◽  
Claudine Piérard-Franchimont ◽  
Philippe Delvenne ◽  
Gérald E. Piérard ◽  
...  
Keyword(s):  
Clinical Parameter ◽  
Joint Hypermobility ◽  
Elastic Fibers ◽  
Hypermobility Syndrome ◽  
Beighton Score ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Transmission Electron ◽  
Asymptomatic Subjects ◽  
Danlos Syndrome

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

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