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Preview: MedWorm: Ehlers-Danlos Syndrome

MedWorm: Ehlers-Danlos Syndrome



MedWorm.com provides a medical RSS filtering service. Over 7000 RSS medical sources are combined and output via different filters. This feed contains the latest news and research in the Ehlers-Danlos Syndrome category.



Last Build Date: Mon, 21 Mar 2016 17:32:40 +0100

 



Early intestinal perforation secondary to congenital mesenteric defects

Fri, 18 Mar 2016 00:00:00 +0100

In conclusion, time-onset and particular conditions associated with GIP should lead to a high index of suspicion for internal hernias in order to achieve appropriate diagnosis and therapy. (Source: Journal of Pediatric Surgery Case Reports)

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Disability in adolescents and adults diagnosed with hypermobility related disorders: a meta-analysis.

Fri, 11 Mar 2016 00:00:00 +0100

CONCLUSIONS: Disability can affect HMS/EDS-HT patients significantly and is highly correlated with both physical and psychological factors. Although evidence is available that physical and psychological treatment modalities can induce significant pain reduction, the evidence regarding disability reduction is lacking. PMID: 26976801 [PubMed - as supplied by publisher] (Source: Physica Medica)



Disability in adolescents and adults diagnosed with hypermobility related disorders: a meta-analysis

Fri, 11 Mar 2016 00:00:00 +0100

To (1) establish the association of the most common reported symptoms on disability, and (2) to study the effectiveness of treatment on disability in Ehlers-Danlos Syndrome (Hypermobility type) (EDS-HT/HMS) patients. (Source: Archives of Physical Medicine and Rehabilitation)



Complexities of management of a urostomy in Ehlers-Danlos syndrome: a reflective account.

Thu, 10 Mar 2016 00:00:00 +0100

Authors: Oxenham J Abstract Mary (pseudonym) is a 30-year-old woman who underwent a urinary diversion and formation of an ileal conduit/urostomy (urinary stoma) due to the formation of multiple bladder diverticula, which caused micturition difficulties and recurrent urinary tract infections with associated pain and discomfort. The bladder diverticula were caused by Ehlers-Danlos syndrome (EDS), a hereditary disorder of the connective tissue or, particulary, defective collagen. Surgical intervention in patients with EDS is prone to complications due to poor wound healing, including issues of dehiscence, postoperative bleeding and poor uptake of anaesthesia and analgesia. After an initial presentation of the syndrome of EDS and Mary's history, this article offers a reflective account...



Well: Think Like a Doctor: Hurting All Over Solved

Fri, 04 Mar 2016 20:04:21 +0100

Readers solve the case of a 36-year-old man with a 20 year history of migrating joint pains along with other strange symptoms. (Source: NYT)



Further defining the phenotypic spectrum of B4GALT7 mutations

Fri, 04 Mar 2016 00:00:00 +0100

We report two newly described patients with compound heterozygous mutations in B4GALT7, and show that the six individuals with confirmed mutations do not have the progeroid features described in the original five patients with a clinical diagnosis of the progeroid form of Ehlers Danlos syndrome. We suggest that galactosyltransferase‐I deficiency does not cause the progeroid form of Ehlers Danlos syndrome, but instead results in a clinically recognizable syndrome comprising short stature, joint hypermobility, radioulnar synostosis, and severe hypermetropia. This group of syndromic patients are on a phenotypic spectrum with individuals who have Larsen of Reunion Island syndrome, although the key features of osteopenia, fractures and hypermetropia have not been reported in patients from Reu...



The real malady of Marcel Proust and what it reveals about diagnostic errors in medicine

Fri, 04 Mar 2016 00:00:00 +0100

Marcel Proust, author of À La Recherche du Temps Perdu, was considered a hypochondriac not only by the numerous specialists he consulted during his lifetime but also by every literary critic who ventured an opinion on his health, among them several clinicians. However, Proust’s voluminous correspondence, as detailed in its attention to his every symptom as his novel, provides valuable clues to Proust’s real, organic, and rare illness. Proust, in fact, was not only genuinely ill but far sicker than he even he believed, most likely suffering from the vascular subtype of Ehlers-Danlos Syndrome. (Source: Medical Hypotheses)



A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.

Tue, 01 Mar 2016 00:00:00 +0100

Authors: Kono M, Hasegawa-Murakami Y, Sugiura K, Ono M, Toriyama K, Miyake N, Hatamochi A, Kamei Y, Kosho T, Akiyama M Abstract is missing (Short communication). PMID: 26925854 [PubMed - as supplied by publisher] (Source: Acta Dermato-Venereologica)



Darcey Kelly 'can't have sex without dislocating hip' due to condition

Thu, 25 Feb 2016 01:53:14 +0100

Darcey Kelly from London, has Ehlers-Danlos Syndrome, an agonising condition which causes her joints to pop out. It means she can't open a bottle of water without dislocating her wrist. (Source: the Mail online | Health)

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Perioperative Hemostatic Management in Ehlers-Danlos Syndrome: A Report of 2 Cases and Literature Review

Fri, 19 Feb 2016 10:35:01 +0100

We present 2 cases of effective perioperative hemostatic management of patients with EDS and review the literature to raise awareness of hemostatic issues during surgery and discuss medical options to consider for perioperative hemostatic management based on our clinical experience and literature review. (Source: Journal of Pediatric Hematology Oncology)



Myb via TGFβ is required for collagen type 1 production and skin integrity.

Thu, 18 Feb 2016 02:40:02 +0100

Authors: Sampurno S, Cross R, Pearson H, Kaur P, Malaterre J, Ramsay RG Abstract Skin integrity requires an ongoing replacement and repair orchestrated by several cell types. We previously investigated the architecture of the skin of avian myeloblastosis viral oncogene homolog (Myb) knock-out (KO) embryos and wound repair in Myb(+/)(-) mice revealing a need for Myb in the skin, attributed to fibroblast-dependent production of collagen type 1. Here, using targeted Myb deletion in keratin-14 (K14) positive cells we reveal further Myb-specific defects in epidermal cell proliferation, thickness and ultrastructural morphology. This was associated with a severe deficit in collagen type 1 production, reminiscent of that observed in patients with ichthyosis vulgaris and Ehlers-Danlos syndr...



Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.

Thu, 18 Feb 2016 02:38:02 +0100

Authors: DeNigris J, Yao Q, Birk EK, Birk DE Abstract Mutations in collagen V are associated with classic Ehlers-Danlos syndrome (EDS). A significant percentage of these mutations result in haploinsufficiency for collagen V. The purpose of this work was to determine if changes in collagen V expression are associated with altered dermal fibroblast behavior contributing to the poor wound healing response. A haploinsufficient Col5a1(+/-) mouse model of EDS was utilized. In vivo wound healing studies demonstrated that mutant mice healed significantly slower than Col5a1(+/+) mice. The basis for this difference was examined in vitro using dermal fibroblast strains isolated from Col5a1(+/-) and Col5a1(+/+) mice. Fibroblast proliferation was determined for each strain by counting cells at ...



Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Tue, 16 Feb 2016 00:00:00 +0100

Conclusion: Our work is significant not only because it sheds new light on the pathophysiology of EDS for the affected family and the field at large, but also because it demonstrates the utility of unbiased large-scale clinical recruitment in deciphering the genetic etiology of rare mendelian diseases. With unbiased large-scale clinical recruitment we strive to sequence as many rare mendelian diseases as possible, and this work in EDS serves as a successful proof of concept to that effect. (Source: Epidemiologic Perspectives and Innovations)



Facelift for an Ehlers-Danlos Syndrome Patient: A Case Report

Mon, 15 Feb 2016 00:00:00 +0100

(Source: Aesthetic Surgery Journal)

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Mother-of-two who can't EAT because of Ehlers-Danlos Syndrome (EDS)

Tue, 09 Feb 2016 15:25:55 +0100

Saffron Taylor, 22, from Birmingham, has Ehlers-Danlos Syndrome (EDS). The condition makes her joints dislocate at the slightest touch and meant she needed screws inserting into her knee. (Source: the Mail online | Health)



Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases

Tue, 02 Feb 2016 00:00:00 +0100

Ehlers-Danlos syndrome is an inherited disorder of collagen production that results in multiorgan dysfunction. Patients with hypermobility type display skin hyperextensibility and joint laxity, which can result in chronic joint instability, dislocation, peripheral neuropathy, and severe musculoskeletal pain. A bleeding diathesis can be found in all subtypes of varying severity despite a normal coagulation profile. There have also been reports of resistance to local anesthetics in these patients. (Source: Journal of Clinical Anesthesia)



Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type.

Fri, 29 Jan 2016 00:00:00 +0100

Conclusions Adults with JHS/EDS-HT have impaired shoulder function, increased pain intensity, as well as reduced physical HRQoL compared with controls. Although neck and shoulder were most frequently rated as painful, significantly more JHS/EDS-HT also reported generalized pain compared to controls. Implications for Rehabilitation Adults with JHS/EDS-HT have impaired shoulder function, and most often painful areas in the neck and shoulder joints, which need to be targeted in the treatment strategy. Compared with the general population adults with JHS/EDS-HT have reduced physical HRQoL, supporting a physical approach for this group. Adults with JHS/EDS-HT may present with both specific painful joints and generalized pain. PMID: 26824670 [PubMed - as supplied by publisher] (Source: Disab...



Potential adverse effects of prophylactic bilateral salpingo-oophorectomy on skin aging in premenopausal women undergoing hysterectomy for benign conditions

Thu, 28 Jan 2016 22:19:35 +0100

Conclusions: Prophylactic BSO during hysterectomy is a significant independent risk factor for worsening skin laxity/sagging and texture/dryness in premenopausal women undergoing hysterectomy for benign conditions. Prophylactic BSO in the presence of dermatological conditions is also associated with reduced quality of life. (Source: Menopause)



Rapidly progressive arterial aneurysms in a patient with Ehlers-Danlos syndrome

Wed, 27 Jan 2016 00:00:00 +0100

(Source: Vascular Medicine)

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Subclavian artery aneurysm in a patient with vascular Ehlers-Danlos syndrome

Thu, 21 Jan 2016 00:00:00 +0100

We describe our experience of surgical treatment in a 28-year-old woman with vascular Ehlers-Danlos syndrome. A right subclavian artery aneurysm was detected. The right vertebral artery arose from the aneurysm. Digital subtraction angiography showed interruption of the left vertebral artery. The aneurysm was excised and the right vertebral artery was anastomosed end-to-side to the right common carotid artery under deep hypothermia and circulatory arrest. The patient remained very well 4 years after surgery, with no late vascular complication. (Source: Asian Cardiovascular and Thoracic Annals)



Open inferior capsular shift for multidirectional shoulder instability in adolescents with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome

Thu, 14 Jan 2016 00:00:00 +0100

The objective of this study was to assess the outcome of open inferior capsular shift for multidirectional shoulder instability in patients with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome. (Source: Journal of Shoulder and Elbow Surgery)



Headaches, bloating and fatigue? You may have Ehlers-Danlos syndrome (EDS)

Tue, 12 Jan 2016 05:36:56 +0100

For 20 years, GP Kate Barnes now 52, from Buckinghamshire, has lived with chronic headaches and pain. Two years ago she found out she has Ehlers-Danlos syndrome (EDS). (Source: the Mail online | Health)



Pregnancy and Thoracic Aortic Disease: Managing the Risks

Fri, 25 Dec 2015 00:00:00 +0100

Publication date: January 2016 Source:Canadian Journal of Cardiology, Volume 32, Issue 1 Author(s): Shaynah Wanga, Candice Silversides, Annie Dore, Vivian de Waard, Barbara Mulder The most common aortopathies in women of childbearing age are bicuspid aortic valve, coarctation of the aorta, Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, SMAD3 aortopathy, Turner syndrome, and familial thoracic aneurysm and dissection. The hemodynamic and hormonal changes of pregnancy increase the risk of progressive dilatation or dissection of the aorta in these women. The presence of hypertension increases the risk further. Therefore, appropriate preconception counselling is advised. For women who become pregnant, serial follow-up by a specialized multidisciplinary team throughout pre...



[Workers with Ehlers-Danlos syndrome: indications for health surveillance and suitable job assignment].

Mon, 21 Dec 2015 03:55:04 +0100

CONCLUSIONS: People with EDS suffer from chronic pain, impaired quality of life and employment difficulties. The hypermobile type seems more compromised in functional areas such as pain and work, while the classic type is more compromised in daily routine and home activities. The employment section was more impaired for EDS subjects who perform tasks with greater physical effort. PMID: 25607285 [PubMed - indexed for MEDLINE] (Source: Medicina del Lavoro)

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Positional Magnetic Resonance Imaging for People With Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities: An Evidence-Based Analysis.

Sun, 20 Dec 2015 21:10:21 +0100

CONCLUSIONS: We did not identify any evidence that assessed the diagnostic impact or clinical utility of pMRI for (a) craniovertebral or spinal abnormalities among people with EDS or (b) major craniovertebral or cervical spine abnormalities among symptomatic people relative to currently available diagnostic modalities. PMID: 26366238 [PubMed - in process] (Source: Ontario Health Technology Assessment Series)



Chronic Paraspinal Pain due to Multiple Aortic Aneurysms.

Sun, 20 Dec 2015 21:07:04 +0100

We report a case of a 46 year old smoker who had developed multiple aneurysms of the aorta in both the thoracic and abdominal parts and was incidentally diagnosed on work-up of a chronic back pain associated with venous prominence on left side of chest and left arm. PMID: 26591150 [PubMed - indexed for MEDLINE] (Source: Journal of the Association of Physicians of India)



Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax.

Sat, 19 Dec 2015 00:00:05 +0100

Authors: Nakagawa H, Wada H, Hajiro T, Nagao T, Ogawa E, Hatamochi A, Tanaka T, Nakano Y Abstract A 17-year-old teen was hospitalized with bilateral pneumothorax. After the bilateral lungs were expanded using catheter tubes, he fully recovered and he was discharged from our hospital. He had a history of colon perforation. Ehlers-Danlos syndrome (EDS) was suspected due to the combination of colon perforation and pneumothorax, and EDS type IV was confirmed after a genetic study identified a c.1511g>a mutation in the COL3A1 gene. This is the first report of bilateral pneumothorax caused by EDS type IV. Clinicians should consider EDS type IV in the differential diagnosis for bilateral pneumothorax in conjunction with distinct previous histories and radiological findings. PMID: ...



High prevalence of radiological vertebral fractures in adult patients with ehlers-danlos syndrome

Fri, 18 Dec 2015 00:00:00 +0100

Previous studies have reported an increased prevalence of osteoporosis in Ehlers-Danlos syndrome (EDS), but these were limited by small number of patients and lack of information on fragility fractures. In this cross-sectional study, we evaluated the prevalence of radiological vertebral fractures (by quantitative morphometry) and bone mineral density (BMD, at lumbar spine, total hip and femoral neck dual-energy X-ray absorptiometry) in 52 consecutive patients with EDS (10 males, 42 females; median age 41years, range: 21–71; 12 with EDS classic type, 37 with EDS hypermobility type, 1 with classic vascular-like EDS, and 2 without specific classification) and 197 control subjects (163 females and 34 males; median age 49years, range: 26–83) attending an outpatient bone clinic. (Source: Bon...



Proteomic analysis for the identification of serum diagnostic markers for joint hypermobility syndrome.

Fri, 18 Dec 2015 00:00:00 +0100

Authors: Watanabe A, Satoh K, Maniwa T, Matsumoto KI Abstract Joint hypermobility syndrome (JHS) (also termed Ehlers-Danlos syndrome, hypermobility type) is a heritable connective tissue disorder which is characterized by generalized joint hypermobility, chronic pain, dizziness, fatigue, and minor skin changes. However, it has yet to be determined in patients with JHS whether specific genetic factors are involved in the risk of developing the disorder. Therefore, interventions have been limited to symptomatic treatments, and biomarkers for diagnosis and therapy have not yet been identified. In the present study, to identify potential serum biomarkers for JHS, we examined proteins with differential levels in sera from patients with JHS and in sera from control individuals using iso...

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Evidence of small fiber neuropathy in a patient with Ehlers–Danlos syndrome, hypermobility-type

Mon, 14 Dec 2015 00:00:00 +0100

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue diseases. Their clinical identity has been recently suggested and many researchers are now considering EDS-HT and JHS as one and the same (i.e. JHS/EDS-HT) (Castori et al., 2013). As the molecular basis of JHS/EDS-HT is largely unknown, the diagnosis remains based exclusively on clinical criteria. Generalized joint hypermobility, joint complications and skin hyperextensibility are the major features of JHS/EDS-HT and chronic pain, fatigue, headache and dysautonomia represent the major causes of patient disability (Castori et al., 2013; De Wandele et al., 2014). (Source: Clinical Neurophysiology)



Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type.

Mon, 14 Dec 2015 00:00:00 +0100

Authors: Pascarella A, Provitera V, Lullo F, Stancanelli A, Saltalamacchia AM, Caporaso G, Nolano M PMID: 26750577 [PubMed - as supplied by publisher] (Source: Clinical Neurophysiology)



A novel approach to the treatment of a direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV

Sun, 13 Dec 2015 00:00:00 +0100

We report a case of a direct carotid–cavernous fistula (CCF) in a patient with Ehlers–Danlos syndrome type IV who presented with progressive chemosis and diplopia. To prevent potential lethal arterial wall injury due to the fragility of the arterial vessel wall, the ipsilateral carotid artery and internal jugular vein were surgically exposed for direct insertion of endovascular sheaths, and transvenous embolization was performed using triple microcatheters with detachable coils. The clinical course was uneventful, and chemosis and diplopia subsequently resolved. By the 6 month follow-up, MRI revealed no recurrence of the CCF. These techniques offer a unique access alternative for endovascular treatment, thereby reducing the risks associated with arterial dissection that often a...



Pseudoaneurysm of the popliteal artery in a patient with Type VI Ehlers-Danlos Syndrome

Fri, 11 Dec 2015 20:31:52 +0100

Resumo A Síndrome de Ehlers-Danlos (EDS) é uma rara doença hereditária do tecido conjuntivo proveniente de uma alteração da síntese do colágeno. A principal característica da EDS é a extrema fragilidade do tecido conjuntivo, que pode resultar em rotura uterina, perfuração intestinal espontânea e várias doenças vasculares como aneurismas, pseudoaneurismas, dissecções arteriais e roturas espontâneas. Os autores relatam o caso de um paciente de 11 anos de idade que apresentava tumor pulsátil na fossa poplítea esquerda após trauma leve com bola de futebol. Diagnosticado pseudoaneurisma de artéria poplítea pelo doppler arterial, confirmado através da angiografia, optou-se pela exploração arterial e devido à fragilidade da parede não foi possível a sua reconstrução...



Le syndrome d’Ehlers-Danlos type hypermobile : intérêt de l’évaluation du contrôle postural dans la stratégie diagnostique et thérapeutique

Fri, 27 Nov 2015 00:00:00 +0100

Discussion–conclusion Les orthèses permettent une ré-automatisation du contrôle postural dans le SEDh. (Source: Neurophysiologie Clinique)

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Teenager with curved spine fulfills her dream of performing on a trapeze

Mon, 23 Nov 2015 13:34:22 +0100

Louise Stewart-Scott, 14, of Jersey, has Ehlers-Danlos syndrome, causing hypermobility and her joints to dislocate. She also suffers from scoliosis, an abnormal curvature in her spine. (Source: the Mail online | Health)



Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome.

Thu, 19 Nov 2015 04:50:20 +0100

CONCLUSION: in this small pilot study, heavy resistance training was both feasible and effective in classic Ehlers Danlos patients, and the results indicated that both tendon and skeletal muscle properties can be improved also in this patient group when they are subjected to resistance training. PMID: 25489549 [PubMed] (Source: Muscles, Ligaments and Tendons Journal)



Structural dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS)

Thu, 19 Nov 2015 00:00:00 +0100

Ehlers-Danlos Syndrome (EDS) (OMIM 130000) is a group of heritable connective tissue disorders, characterized by skin hyperelasticity, joint hypermobility and general tissue fragility [1] and the pathogenic mechanisms leading to EDS remain unclear. The syndrome is a complex and heterogeneous disorder showing subtypes with heterogenic clinical manifestations. The various EDS subtypes are generally associated to collagen defects, yet mutations in different extracellular matrix (ECM) proteins, e.g. (Source: FEBS Letters)



Successful endovascular treatment of delayed arterial rupture from celiac artery dissection in a patient with type IV Ehlers-Danlos syndrome

Tue, 17 Nov 2015 00:00:00 +0100

Publication date: Available online 21 October 2015 Source:Diagnostic and Interventional Imaging Author(s): G.C. Colin, P. Goffette, C. Beauloye, F. Hammer (Source: Diagnostic and Interventional Imaging)



The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

Tue, 17 Nov 2015 00:00:00 +0100

Publication date: Available online 14 November 2015 Source:Canadian Journal of Cardiology Author(s): Timothy J. Bradley, Sarah C. Bowdin, Chantal F.J. Morel, Reed E. Pyeritz Over 30 heritable conditions are associated with thoracic aortic aneurysm and dissection (TAAD). Heritable syndromic conditions, such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS) and vascular Ehlers-Danlos syndrome (vEDS), have somewhat overlapping systemic features, but careful clinical assessment usually enables a diagnosis which may be validated by genetic testing. Non-syndromic familial TAAD (FTAAD) can also occur and in 20-25% of these probands mutations exist in genes encoding elements of the extracellular matrix (ECM), signaling pathways (especially involving transforming growth factor-β (TGFβ), ...

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Anesthetic management of a parturient with hypermobility phenotype but possible vascular genotype Ehlers-Danlos syndrome

Sat, 14 Nov 2015 13:37:26 +0100

Conclusion The risk of severe morbidity and mortality in parturients with vascular EDS has warranted recommendations for modified management of labour, particularly regarding mode and timing of delivery. Nevertheless, a multidisciplinary approach and consideration of phenotype rather than genotype alone were instrumental in the successful management of this patient. Genetic testing of patients who display features of EDS and/or who have a positive family history of the disease is important in the preparation for labour and delivery. In the absence of convincing signs of vascular EDS and a negative family history, it may be rational to offer certain parturients neuraxial anesthesia and a trial of vaginal labour. (Source: Canadian Journal of Anesthesia)



Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Sat, 31 Oct 2015 00:34:02 +0100

Authors: Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F Abstract Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a familial trait and is shared by several heritable connective tissue disorders, including the hypermobility subtype of the Ehlers-Danlos syndrome (EDS-HT) or benign joint hypermobility syndrome (BJHS). These hereditary conditions provide unique models for the study of the genetic basis of joint hypermobility. Nevertheless, these studies are largely hampered by the great variability in clinical presentation and the often vague mode of inheritance in many families. ...



A case of Ehlers-Danlos syndrome with hemoptysis

Fri, 30 Oct 2015 00:00:00 +0100

Conclusion: In this care, EDS was found as an uncommon cause of hemoptysis. (Source: European Respiratory Journal)



Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Tue, 27 Oct 2015 00:00:00 +0100

Authors: Baeza-Velasco C, Van den Bossche T, Grossin D, Hamonet C Abstract Joint Hypermobility Syndrome, also known as Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT), is a heritable disorder of connective tissue, common but poorly known by the medical community. Although generalized joint hypermobility and fragility of tissues have been described as core features, recent research highlights the multisystemic nature of JHS/EDS-HT, which presents with a wide range of articular and extra-articular symptoms. Among these, gastrointestinal problems, temporomandibular disorders, and smell and taste abnormalities are common among those affected, having significant implications for eating. The present work reviews the literature linking JHS/EDS-HT and eating problems. Two illustrati...



Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Tue, 20 Oct 2015 00:00:00 +0100

Authors: Makrygiannis G, Loeys B, Defraigne JO, Sakalihasan N Abstract Cervical artery dissection (CeAD) is a rare condition. One of the causes is the vascular type of Ehlers-Danlos syndrome (vEDS). A novel missense mutation in COL3A1 was found in a young patient with CeAD as the single manifestation of vEDS. This is a heterozygous c.953G>A mutation in exon 14, disrupting the normal Gly-X-Y repeats of type III procollagen, by converting glycine to aspartic acid. PMID: 26497932 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)

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Ehlers-Danlos syndrome(s) mimicking child abuse: is there an impact on clinical practice? - Castori M.

Wed, 14 Oct 2015 12:28:41 +0100

Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragilit... (Source: SafetyLit: All (Unduplicated))



Thoracic aortic aneurysms and pregnancy.

Wed, 07 Oct 2015 00:00:00 +0100

Authors: Coulon C Abstract Half of acute aortic dissection in women under the age of 40 occurs during pregnancy or peripartum period. Marfan syndrome is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Turner syndrome also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Management of aortic root aneurysm has been established in recent recommendations, even if levels of evidence are weak. Pregnancy and postpartum period should be followed very closely and determined to be at high risk. Guidelines suggest that women with aortopathy should be counseled against the risk of pregnancy and about the heritable nature of the disea...



When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children

Tue, 06 Oct 2015 00:00:00 +0100

Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we provide information on Benign Joint Hypermobility Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz syndrome and Stickler syndrome, and discuss their characteristics and clinical management. (Source: Pediatric Rheumatology)



Heart transplantation in the Ehlers-Danlos syndrome.

Thu, 01 Oct 2015 00:00:00 +0100

We describe a woman with Ehlers-Danlos syndrome and aortic aneurysm who experienced a myocardial infarction due to spontaneous left circumflex coronary artery dissection 3 weeks postpartum. She developed end-stage heart failure and subsequently underwent a successful orthotopic heart transplantation. To our knowledge, this is the first report of a heart transplant performed in an individual with Ehlers-Danlos syndrome. PMID: 26424951 [PubMed] (Source: Baylor University Medical Center Proceedings)



Pp-5 joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type and gastrointestinal symptoms

Wed, 30 Sep 2015 14:09:44 +0100

No abstract available (Source: Journal of Pediatric Gastroenterology and Nutrition)

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Pregnancy and Thoracic Aortic Disease - Managing the Risks

Sat, 19 Sep 2015 00:00:00 +0100

Publication date: Available online 18 September 2015 Source:Canadian Journal of Cardiology Author(s): Shaynah Wanga, Candice K. Silversides, Annie Dore, Vivian de Waard, Barbara Mulder The most common aortopathies in women of childbearing age are bicuspid aortic valves (BAV), coarctation of the aorta, Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, SMAD3 aortopathy, Turner syndrome and familial thoracic aneurysms and dissections (FTAAD). The hemodynamic and hormonal changes of pregnancy increase the risk of progressive dilatation or dissection of the aorta in these women. The presence of hypertension increases the risk further. Therefore, appropriate pre-conception counseling is advised. For those women who become pregnant, serial follow-up by a specialized multidisci...



Spontaneous Splenic Rupture in Vascular Ehlers-Danlos Syndrome

Wed, 16 Sep 2015 00:00:00 +0100

Vascular Ehlers-Danlos Syndrome (VEDS) is a rare autosomal dominant collagen vascular disorder. Different from other Ehler-Danlos Syndrome subtypes, VEDS has poor prognosis due to severe fragility of connective tissues and association with life-threatening vascular and gastrointestinal complications. Spontaneous splenic rupture is a rare but hazardous complication related to this syndrome. To date, only 2 cases have been reported in the literature. Here we present another case of this uncommon complication, occurring in a 54-year-old woman in clinical follow-up for VEDS who presented with sudden onset of abdominal pain and hypotension. (Source: Vascular and Endovascular Surgery)



[Multiple bladder diverticula caused by occipital horn syndrome].

Wed, 16 Sep 2015 00:00:00 +0100

We report on the case of a child who presented with recurrent, multiple, and voluminous bladder diverticula. Bladder diverticula are defined as a herniation of the mucosa through the bladder muscle or the detrusor. Causes are numerous and diverticula can be classified into primary congenital diverticula (para-ureteral - or Hutch diverticula - and posterolateral diverticula); secondary diverticula (resulting from chronic mechanical obstruction or from neurological disease; and diverticula secondary to connective tissue or muscle fragility. The latter is seen in disease entities such as prune belly syndrome, Ehlers-Danlos syndrome, cutis laxa syndrome, OHS (occipital horn syndrome), Menkes disease, and Williams-Beuren syndrome. In this patient, the cause of these diverticula was OHS, a genet...



Anesthetic management of a parturient with hypermobility phenotype but possible vascular genotype Ehlers-Danlos syndrome.

Mon, 14 Sep 2015 00:00:00 +0100

CONCLUSION: The risk of severe morbidity and mortality in parturients with vascular EDS has warranted recommendations for modified management of labour, particularly regarding mode and timing of delivery. Nevertheless, a multidisciplinary approach and consideration of phenotype rather than genotype alone were instrumental in the successful management of this patient. Genetic testing of patients who display features of EDS and/or who have a positive family history of the disease is important in the preparation for labour and delivery. In the absence of convincing signs of vascular EDS and a negative family history, it may be rational to offer certain parturients neuraxial anesthesia and a trial of vaginal labour. PMID: 26370260 [PubMed - as supplied by publisher] (Source: Canadian Journ...



Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis

Wed, 02 Sep 2015 00:00:00 +0100

Conclusions: Clinically actionable pathogenic mutations in genes associated with adolescent idiopathic scoliosis and aortic aneurysm are rare in patients with adolescent idiopathic scoliosis who are not suspected of having these disorders, although variants of unknown significance are relatively common. Clinical Relevance: Routine genetic screening of all patients with adolescent idiopathic scoliosis for mutations in clinically actionable aortic aneurysm disease genes is not recommended on the basis of the high frequency of variants of unknown significance. Clinical evaluation and family history should heighten indications for genetic referral and testing. (Source: The Journal of Bone and Joint Surgery)

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Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic

Tue, 01 Sep 2015 00:00:00 +0100

Conclusions & InferencesEDS HM and other subtypes should be considered in patients with chronic functional GI symptoms and abdominal vascular lesions. Patients with Ehlers Danlos syndrome (EDS) experience chronic GI symptoms, particularly those with EDS hypermobility (HM) subtype whose symptoms are consistent with classical functional GI disorders. However, the vascular subtype of EDS may result in significant vascular diseases including abdominal vessel aneurysms and effects of ischemia. In this retrospective review of the medical records of patients diagnosed with EDS at Mayo Clinic, we found that 56% had GI manifestations. Among those tested, 22.3% had abnormal gastric emptying, 28.3% had abnormal colonic transit, and 60% had rectal evacuation disorder. Aneurysms of the main abdomi...



Superficialis Sling (Flexor Digitorum Superficialis Tenodesis) for Swan Neck Reconstruction

Sat, 29 Aug 2015 00:00:00 +0100

Swan neck deformity, or hyperextension of the proximal interphalangeal joint, may occur secondary to trauma, rheumatoid arthritis, cerebral palsy, or Ehlers-Danlos syndrome, and can be treated with tenodesis of one slip of the flexor digitorum sublimis tendon. This technique has several variations, differing primarily in the specific location and method that a single slip of the flexor digitorum sublimis tendon is secured, but they all serve to create a static volar restraint against hyperextension. (Source: The Journal of Hand Surgery)



Sublimis Sling (FDS Tenodesis) for Swan Neck Reconstruction

Sat, 29 Aug 2015 00:00:00 +0100

Swan neck deformity, or hyperextension of the proximal interphalangeal joint, may occur secondary to trauma, rheumatoid arthritis, cerebral palsy, or Ehlers-Danlos syndrome, and can be treated with tenodesis of one slip of the flexor digitorum sublimis tendon. This technique has several variations, differing primarily in the specific location and method that a single slip of the flexor digitorum sublimis tendon is secured, but they all serve to create a static volar restraint against hyperextension. (Source: The Journal of Hand Surgery)



Arterial stiffness characterization in patients with Postural Orthostatic Tachycardia Syndrome and Ehlers-Danlos Syndrome Type 3

Wed, 26 Aug 2015 22:29:18 +0100

Background: Postural orthostatic tachycardia syndrome (POTS) is characterized by symptoms of orthostatic intolerance associated with an exaggerated increase in heart rate (HR) on standing. Recently, researchers have been reported that patients with Joint Hypermobility Syndromes, genetic disorders that affect collagen synthesis and deposition such as Ehlers-Danlos syndrome type 3 (EDS-3), have associated symptoms of POTS. The combination of these disorders may produce an altered vascular phenotype that has not been previously investigated. (Source: Autonomic Neuroscience: Basic and Clinical)



Study ii- beighton score and delta heart rate (Δ HR) correlation in patients with ehlers danlos syndrome (EDS) and postural orthostatic tachycardia syndrome (POTS)

Wed, 26 Aug 2015 22:29:14 +0100

Introduction: Postural Orthostatic Tachycardia Syndrome (POTS) affects primarily young women. A subset of POTS patients also had EDS.We have conducted Study I with POTS and EDS demonstrated that In Patients with EDS, B-score predicted delta heart rate with patients with higher Beighton score having higher delta heart rate, there were no significant association between POTS and EDS(p>0.05) presented in American Autonomic society. We want to take the study further and conduct the research in large cohort of patients. (Source: Autonomic Neuroscience: Basic and Clinical)

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Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive

Fri, 21 Aug 2015 18:53:10 +0100

AbstractEhlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed ...



Practice nurses, Ehlers-Danlos syndrome, fitness to drive, and Balint groups.

Wed, 29 Jul 2015 04:54:15 +0100

Authors: Rashid A PMID: 26212834 [PubMed - in process] (Source: The British Journal of General Practice)



Aortic disease in the young: pictorial review of genetic aneurysm syndromes, connective tissue disorders and familial aortic aneurysms and dissections

Fri, 24 Jul 2015 15:34:24 +0100

There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), autosomal dominant polycystic kidney disease (ADPKD), Turner’s disease and neurofibromatosis.Computed tomography (CT) and magnetic resonance imaging (MRI) are the most commonly used imaging examinations to evaluate aortic diseases because of their high spatial and temporal resolutions, large fields of view and multiplanar imaging reconstruction capabilities. (Source: Clinical Radiology)



Outcomes of repair of left partial anomalous pulmonary venous connection in children

Wed, 22 Jul 2015 00:00:00 +0100

Herein, we report a case series of patients who underwent repair of left partial anomalous pulmonary venous connection (L-PAPVC) via anastomosing the anomalous pulmonary vein (PV) to the left atrial appendage. Fifteen children underwent repair of L-PAPVC between 1980 and 2014. The median age at surgery was 3.6 years (range: 5 days to 17.2 years). Concomitant anomalies were present in 87% (13/15). There were no early deaths. There was 1 late death occurring 63 days following surgical repair due to pneumococcal septicaemia in a patient with prior atrial septal defect closure and Ehlers–Danlos syndrome. The overall survival rate was 93.7% at 15 years. A single patient (1/15, 7%) required reoperation 1 year after L-PAPVC repair for PV stenosis due to several thrombi located throughout th...



Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance

Wed, 22 Jul 2015 00:00:00 +0100

Abstract Postural tachycardia syndrome (POTS) is a form of chronic orthostatic intolerance for which the hallmark physiological trait is an excessive increase in heart rate with assumption of upright posture. The orthostatic tachycardia occurs in the absence of orthostatic hypotension and is associated with a >6-month history of symptoms that are relieved by recumbence. The heart rate abnormality and orthostatic symptoms should not be caused by medications that impair autonomic regulation or by debilitating disorders that can cause tachycardia. POTS is a “final common pathway” for a number of overlapping pathophysiologies, including an autonomic neuropathy in the lower body, hypovolemia, elevated sympathetic tone, mast cell activation, deconditioning, and autoantibodies. N...

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Ehlers-Danlos Syndrome: Arthroscopic Management for Extreme Soft-Tissue Hip Instability

Sat, 18 Jul 2015 00:00:00 +0100

To present outcomes in a series of patients with Ehlers-Danlos syndrome (EDS)–hypermobility type who underwent hip arthroscopy for associated hip pain and extreme capsular laxity. (Source: Arthroscopy - Journal of Arthroscopic and Related Surgery)



2.5 CE Test Hours: Nursing Management of Patients with Ehlers-Danlos Syndrome.

Sun, 28 Jun 2015 13:42:16 +0100

Authors: Contrada E PMID: 26110954 [PubMed - in process] (Source: The American Journal of Nursing)



LOX Regulates Early Collagen Fibrillogenesis [Developmental Biology]

Thu, 25 Jun 2015 00:00:00 +0100

Lysyl oxidases (LOXs) are a family of copper-dependent oxido-deaminases that can modify the side chain of lysyl residues in collagen and elastin, thereby leading to the spontaneous formation of non-reducible aldehyde-derived interpolypeptide chain cross-links. The consequences of LOX inhibition in producing lathyrism are well documented, but the consequences on collagen fibril formation are less clear. Here we used β-aminoproprionitrile (BAPN) to inhibit LOX in tendon-like constructs (prepared from human tenocytes), which are an experimental model of cell-mediated collagen fibril formation. The improvement in structure and strength seen with time in control constructs was absent in constructs treated with BAPN. As expected, BAPN inhibited the formation of aldimine-derived cross-links in c...



Teenage girl had to be wired together before she fell apart

Tue, 23 Jun 2015 04:42:19 +0100

Emily James, 17, from Salford, has Ehlers-Danlos syndrome which causes her joints to dislocate several times a day, leaving her in constant pain. (Source: the Mail online | Health)



Broadening the spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia.

Mon, 15 Jun 2015 00:00:00 +0100

CONCLUSIONS: CAH-X syndromeiscommonlyfoundinCAHdueto 21-hydroxylase deficiencyandmay result from various etiological mechanisms. PMID: 26075496 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)

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CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

Thu, 11 Jun 2015 00:00:00 +0100

This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life. PMID: 26067654 [PubMed - as supplied by publisher] (Source: The American Journal of Nursing)



Aggressive change of a carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV.

Wed, 03 Jun 2015 13:52:00 +0100

Authors: Kojima A, Saga I, Tomio R, Kosho T, Hatamochi A Abstract The authors report a rare case of a carotid-cavernous fistula (CCF) secondary to Ehlers-Danlos syndrome (EDS) type IV which showed an aggressive angiographical change. A 59-year-old woman presented with headache, right pulsatile tinnitus, and diplopia on the right side. The diagnostic angiography demonstrated a right CCF. Accordingly transarterial embolization of the fistula was attempted 5 days later. The initial right internal carotid angiography showed an aneurysm on the petrous portion of the internal carotid artery (ICA) which was not recognized in the diagnostic angiography. Spontaneous reduction of the shunt flow and long dissection of the ICA were also revealed. The aneurysm was successfully occluded with coi...



The Genetics of Soft Connective Tissue Disorders.

Mon, 18 May 2015 00:00:00 +0100

Authors: Vanakker O, Callewaert B, Malfait F, Coucke P Abstract Over the last few years, the field of hereditary connective tissue disorders has changed tremendously. This review highlights exciting insights into three prototypic disorders affecting the soft connective tissue: Ehlers-Danlos syndrome, pseudoxanthoma elasticum, and cutis laxa. For each of these disorders, the identification and characterization of several novel but related conditions or subtypes have widened the phenotypic spectrum. In parallel, the vast underlying molecular network connecting these phenotypes is progressively being uncovered. Identification and characterization (both clinical and molecular) of new phenotypes within the connective tissue disorder spectrum are often key to further unraveling the pathw...



Homozygosity and Heterozygosity for Null Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome–Related Phenotype

Sat, 16 May 2015 00:00:00 +0100

We describe mice with null alleles for the Col5a2. Col5a2−/− homozygosity is embryonic lethal at approximately 12 days post conception. (Source: American Journal of Pathology)



Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.

Sat, 16 May 2015 00:00:00 +0100

We describe mice with null alleles for the Col5a2. Col5a2(-/-) homozygosity is embryonic lethal at approximately 12 days post conception. Unlike previously described mice null for Col5a1, which die at 10.5 days post conception and virtually lack collagen fibrils, Col5a2(-/-) embryos have readily detectable collagen fibrils, thicker than in wild-type controls. Differences in Col5a2(-/-) and Col5a1(-/-) fibril formation and embryonic survival suggest that α1(V)3 homotrimers, a rare collagen V isoform that occurs in the absence of sufficient levels of α2(V) chains, serve functional roles that partially compensate for loss of the most common collagen V isoform. Col5a2(+/-) adults have skin with marked hyperextensibility and reduced tensile strength at high strain but not at low strain. Col5a...

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A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1.

Fri, 01 May 2015 00:00:00 +0100

Authors: Abrahamsen BJ, Kulseth MA, Paus B Abstract A 19-year-old sportsman experienced a right-sided pneumothorax and hemoptysis after having had an intermittent cough and blood-tinged sputum for 2 months. A chest CT scan revealed small cavitary lesions in both lungs. The relapsing pneumothorax was treated with a chest tube twice, as well as surgically after the second relapse. Two months after surgery, the patient developed a cough, fever, and high C-reactive protein levels. At that time, large consolidations had developed in the right lung, while the left lung subsequently collapsed due to pneumothorax. The patient's physical appearance and anamnestic information led us to suspect a genetic connective tissue disease. A sequencing analysis of the COL3A1 gene identified a novel, d...



Arthroscopic ligamentum teres reconstruction of the hip in Ehlers-Danlos syndrome: a case study.

Thu, 23 Apr 2015 00:00:00 +0100

This article focuses on reconstruction of the ligamentum teres (LT) of the hip using a tibialis anterior allograft to treat severe instability and pain in a 43 year-old female with EDS. The LT reconstruction was accompanied by labral repair and capsular plication. The patient was assessed pre- and postoperatively using modified Harris Hip Score (mHHS), Hip Outcome Score Activities of Daily Living (HOS-ADLS), Hip Outcome Score Sports Specific Subscale (HOS-SSS), Non Arthritic Hip Score (NAHS), Visual Analog Scale (VAS), and satisfaction. One year following surgery the patient has reported positive outcomes in terms of pain and instability. LITERATURE REVIEW: Ligament reconstruction has been reported in patients with Ehlers-Danlos syndrome for shoulders and knees with positive results an...



Complications associated with surgical repair of syndromic scoliosis

Thu, 23 Apr 2015 00:00:00 +0100

Conclusions: Though these syndromes have been classically grouped together under the umbrella term “syndromic,” there may be specific needs for patients with each of these ailments. Given the high rate of complications, further research is necessary to understand the unique needs for each of these patient groups in the preoperative, intraoperative, and postoperative settings. (Source: Scoliosis)



Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study

Wed, 15 Apr 2015 00:00:00 +0100

Background: Many individuals with Ehlers-Danlos Syndrome (EDS) are hypermobile, suffer from long term pain, and have complex health problems. Since these sometimes have no objective physical signs, individuals with EDS sometimes are referred for psychiatric evaluation. The aim was therefore to identify the level of anxiety and quality of life in a Swedish group of individuals with EDS. Methods: A postal survey in 2008 was distributed to 365 members over 18 years of the Swedish National EDS Association and 250 with EDS diagnosis responded. Two questionnaires, the Hospital Anxiety and Depression Scale (HADS) and SF-36, were used. A Swedish population study was used to compare results from SF-36. Independent Student’s t-test was used to compare differences between groups, possible relations...



Lumican Deficiency Results In Cardiomyocyte Hypertrophy With Altered Collagen Assembly

Tue, 14 Apr 2015 00:00:00 +0100

The ability of the heart to adapt to increased stress is dependent on modification of its extracellular matrix (ECM) architecture that is established during postnatal development as cardiomyocytes differentiate, a process that is poorly understood. We hypothesized that the small leucine-rich proteoglycan (SLRP) lumican (LUM), which binds collagen and facilitates collagen assembly in other tissues, may play a critical role in establishing the postnatal murine myocardial ECM. Although previous studies suggest LUM deficient mice (lum-/-) exhibit skin anomalies consistent with Ehlers-Danlos syndrome, lum-/- hearts have not been evaluated. (Source: Journal of Molecular and Cellular Cardiology)

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Ehlers-Danlos syndrome (overlap of classical and vascular type) with rare neuromuscular phenotype (P2.103)

Wed, 08 Apr 2015 00:00:00 +0100

Conclusions: Our patients had the rare neuromuscular phenotype including unusual facial and trigeminal muscle weakness which are not reported earlier.Disclosure: Dr. Singh has nothing to disclose. Dr. Nalini has nothing to disclose. Dr. Gayathri has nothing to disclose. Dr. Prasad has nothing to disclose. Dr. Veeramani has nothing to disclose. Dr. Polavarapu has nothing to disclose. Dr. Navali has nothing to disclose. (Source: Neurology)



Microscopic study of dental hard tissues in primary teeth with Dentinogenesis Imperfecta Type II: Correlation of 3D imaging using X-ray microtomography and polarising microscopy

Thu, 26 Mar 2015 00:00:00 +0100

Dentinogenesis Imperfecta (DGI) is an inherited single-gene disorder affecting the dentine. In 1973 a classification of dentine defects was made, dividing them into two main groups, DGI and Dentin Dysplasia (DD). These were then further subdivided into DGI Types I-III and DD Types I-II.1 Several syndromes are reported to be associated with dentine defects i.e. osteogenesis imperfecta (OI,) and Ehlers-Danlos syndrome (EDS) with DD Type 1. These are conditions involving dentine aberrations and where the molecular basis is known. (Source: Archives of Oral Biology)



Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype

Fri, 20 Mar 2015 00:00:00 +0100

Collagen V mutations underlie classic Ehlers-Danlos syndrome, and joint hypermobility is a significant clinical manifestation. We define the function of collagen V in tendons and ligaments, as well as the role of alterations in collagen V expression in the pathobiology in classic Ehlers-Danlos syndrome. A conditional Col5a1flox/flox mouse model was bred with Scleraxis-Cre mice to create a targeted tendon and ligament Col5a1-null mouse model, Col5a1Δten/Δten. Targeting was specific, resulting in collagen V–null tendons and ligaments. (Source: American Journal of Pathology)



Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype.

Thu, 19 Mar 2015 00:00:00 +0100

Authors: Sun M, Connizzo BK, Adams SM, Freedman BR, Wenstrup RJ, Soslowsky LJ, Birk DE Abstract Collagen V mutations underlie classic Ehlers-Danlos syndrome, and joint hypermobility is a significant clinical manifestation. We define the function of collagen V in tendons and ligaments, as well as the role of alterations in collagen V expression in the pathobiology in classic Ehlers-Danlos syndrome. A conditional Col5a1(flox/flox) mouse model was bred with Scleraxis-Cre mice to create a targeted tendon and ligament Col5a1-null mouse model, Col5a1(Δten/Δten). Targeting was specific, resulting in collagen V-null tendons and ligaments. Col5a1(Δten/Δten) mice demonstrated decreased body size, grip weakness, abnormal gait, joint laxity, and early-onset osteoarthritis. These gross chan...



PP-015 A Rare Case of Aneursym of Triple Arteries; Coronary, Aorta and Pulmonary; in a Young Subject

Thu, 12 Mar 2015 22:23:37 +0100

Sudden cardiac death or events due to dissection or rupture of aorta, pulmonary or coronary artery is not very uncommon in the young subjects. Echocardiography is critically essential in young subjects who are candidates for the professional sport training. Although the Chest trauma, sport activities, inflammatory diseases (e.g. Takayasu, Kawasaki diseases) genetically inherited disease (Marfan or Ehlers-Danlos Syndrome) are the foremost causes of the dissection of great arteries, sporadic cases with the aneurysm of triple vital arteries, ascending aorta, pulmonary artery and right coronary artery had been very rarely reported. (Source: The American Journal of Cardiology)

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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Wed, 11 Mar 2015 00:00:00 +0100

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome European Journal of Human Genetics advance online publication, March 11 2015. doi:10.1038/ejhg.2015.32 Authors: Michael Frank, Juliette Albuisson, Brigitte Ranque, Lisa Golmard, Jean-Michael Mazzella, Laurence Bal-Theoleyre, Anne-Laure Fauret, Tristan Mirault, Nicolas Denarié, Elie Mousseaux, Pierre Boutouyrie, Jean-Noël Fiessinger, Joseph Emmerich, Emmanuel Messas & Xavier Jeunemaitre (Source: European Journal of Human Genetics)



How Do You Diagnose Hypermobility?

Mon, 23 Feb 2015 00:18:35 +0100

Discussion Hypermobility can be seen in several different clinical entities. These include generalized joint hypermobility, joint hypermobility syndrome, Marfan syndrome, Ehlers-Danlos syndrome and Osteogenesis Imperfecta. For adults, a Beighton score of at least 4 or 5 is used as a definition of hypermobility. For children a score of 5 or 6 is used as a definition. (see scoring system below). Generalized joint hypermobility is hypermobility with few or no symptoms. If they occur, knee symptoms are the most common. Joint hypermobility syndrome has hypermobility along with other symptoms such as pain, reduced muscle strength, and decreased proprioception and balance. Joint hypermobility syndrome is diagnosed by: 2 major criteria 1 major criteria and 2 minor criteria 4 minor criteria 2 m...



The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type

Mon, 02 Feb 2015 00:00:00 +0100

Conclusions: Results show that NMT seems to be a promising low-cost intervention for improving gait strategy in patients with JHS/EDS-HT. Further investigations are needed to assess the effects of this treatment intervention on pathological symptoms. (Source: Therapeutic Advances in Musculoskeletal Disease)



Brittle cornea syndrome: A case report and comparison with Ehlers Danlos syndrome

Sun, 01 Feb 2015 00:00:00 +0100

To the Editor: Ramappa and colleagues1 describe an infant with ZNF469-related brittle cornea syndrome, the second reported compound heterozygous case to the best of my knowledge (the first being a British girl2). I have several comments. (Source: Journal of AAPOS)



Reply

Sun, 01 Feb 2015 00:00:00 +0100

We appreciate Dr. Khan’s excellent comments. He is correct that other types of gene alterations have been reported in Human Gene Mutation Database, and we apologize for our oversight. The clinical differentiation of various syndromes associated with keratoglobus can be challenging in infants who have yet to demonstrate extraocular findings. Although Ehlers-Danlos syndrome (EDS) VI may present with congenital scoliosis, the scoliosis is not always present in infancy. We agree that patients with EDS VI have inconsistent ocular findings but feel that EDS VI should be included in the differential diagnosis for infants presenting with keratoglobus and blue sclera. (Source: Journal of AAPOS)

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Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome

Sat, 31 Jan 2015 00:00:00 +0100

Conclusion: WFFS is a novel genetic disease in horses and should be considered in cases of abortion, stillbirth, skin lesions and malformations of the skin in neonatal foals. Genetic testing of suspicious cases will contribute to evaluate the frequency of occurrence of clinical WFFS cases and its relevance for the horse population. (Source: BMC Veterinary Research)



Kinematics and kinetics of people who are hypermobile. A systematic review

Tue, 20 Jan 2015 00:00:00 +0100

A joint is considered hypermobile when it exhibits a range of motion greater than expected for a given age, ethnicity or gender [2,3]. Many people exhibit asymptomatic hypermobility in multiple joints, a condition termed Generalised Joint Hypermobility (GJH). In contrast hypermobility can be symptomatic, a condition that has been defined as Hypermobility Syndrome, Benign Joint Hypermobility Syndrome, Ehlers-Danlos syndrome Type III, Ehlers-Danlos syndrome Hypermobility Type and Joint Hypermobility Syndrome. (Source: Gait and Posture)



Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers-Danlos Syndrome Phenotype

Fri, 16 Jan 2015 00:00:00 +0100

We report the case of a 39-year-old male who presented with acute abdominal pain. At the time of presentation, the patient was in hypovolemic shock and computed tomography angiogram demonstrated common iliac artery dissection with rupture. He underwent an attempted endovascular repair that was converted to an open repair of a ruptured right common iliac artery dissection. Subsequent genetic testing revealed a substitution of arginine for cysteine in type I collagen, COL1A1 exon 14 c.934C>T mutation, consistent with a rare variant of classic EDS. (Source: Annals of Vascular Surgery)



Affected Twins in the Familial Intracranial Aneurysm Study

Thu, 08 Jan 2015 15:53:38 +0100

Conclusions: We found that arterial location concordance was greater in MZ than DZ twins, which suggests a genetic influence upon aneurysm location. The 16 twin-pairs in the present study are nearly the total of affected twin-pairs that have been reported in the literature to date. Further studies are needed to determine the impact of genetics in the formation and rupture of IAs.Cerebrovasc Dis 2015;39:82-86 (Source: Cerebrovascular Diseases)



Selected Case From the Arkadi M. Rywlin International Pathology Slide Series: Diffuse Dendriform Pulmonary Ossification: Report of 2 Cases With Review of the Literature

Thu, 01 Jan 2015 06:00:00 +0100

Two cases of diffuse dendriform pulmonary ossification (DPO) are presented, one of the secondary type and the other of the idiopathic type. Case 1 was an adult female patient who underwent thoracic surgery to remove a posterior mediastinal bronchogenic cyst, which was discovered on a computed tomography scan performed after an episode of pneumonia when traction bronchiectasis with interstitial lung disease/fibrosis was also suspected in the lungs. Histologic examination performed on the resected lung tissue revealed numerous scattered small osseous spicules on a background of intense interstitial inflammation and fibrosis, leading to further clinical and laboratory investigations and the final diagnosis of DPO secondary to lung involvement by scleroderma. Case 2 was an adult male patient w...

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Unexplained facial scar: child abuse or ehlers-danlos syndrome? - Abtahi-Naeini B, Shapouri J, Masjedi M, Saffaei A, Pourazizi M.

Sat, 27 Dec 2014 05:43:12 +0100

CONTEXT: Child abuse is a serious problem, and its physical manifestations can be mimicked by certain diseases and conditions. These conditions can include genetic, congenital and other disorders that may result in poor weight gain, bone fractures or skin ... (Source: SafetyLit: All (Unduplicated))



Mother of five has dislocated every bone in her body and even yawning isn't safe for her 

Sat, 27 Dec 2014 01:35:24 +0100

Jojo Meadows, 38, from Hereford, suffers from Ehlers-Danlos Syndrome a rare condition which causes her bones to dislocate up to a whopping ten times a day. (Source: the Mail online | Health)



Bullous emphysema as first presentation of Ehlers-Danlos Syndrome in monozygotic twins

Wed, 24 Dec 2014 00:00:00 +0100

We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers–Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up. (Source: Respiratory Medicine Case Reports)



Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests

Mon, 15 Dec 2014 00:00:00 +0100

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family s...



Endovascular repair of direct carotid-cavernous fistula in Ehlers-Danlos type IV

Thu, 11 Dec 2014 00:00:00 +0100

We present the case of a patient with EDS type IV who previously had spontaneous dissection and multiple pseudoaneurysms of both the iliac and femoral arteries and the distal abdominal aorta. Several years later the patient developed a direct type A CCF which was successfully treated with endovascular embolization using a transvenous approach with detachable coils. The literature pertaining to CCF in EDS type IV and its treatment is reviewed. (Source: Journal of NeuroInterventional Surgery)

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Is Vascular Fragility a Significant Concern in Ehlers-Danlos Syndrome Type VIA?

Mon, 08 Dec 2014 00:00:00 +0100

We read with interest the report Tosun et al.1 The authors described a 3-year-old girl with periventricular leukomalacia attributed related to previous hemorrhage; she was diagnosed with the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS) with a novel homozygous p.Pro622Argfs*3 (c. 1863_1864dupCG) mutation in exon 17 causing frameshift of the PLOD1 gene on chromosome 1.1 (Source: Pediatric Neurology)