Ehlers Danlos Syndrom
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
... Over a period of 1.5 years, 12 new index patients and 3 relatives were diagnosed with this relatively rare type of Ehlers Danlos syndrome at our Institution. Here we present results on individual clinical ...
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Neurological manifestations of Ehlers-Danlos syndrome(s): A review.
... of Ehlers-Danlos syndrome (EDS) is significantly changed and actually refers to an expanding spectrum of heritable connective tissue disorders sharing the variable triad of (i) generalized joint ...
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Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print
... Background: The role of physical trauma in the onset of symptoms in Ehlers-Danlos syndrome (EDS) has never been characterized. We sought to search and describe brain lesions EDS patients also having ...
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Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature
... Case presentation: A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical ...
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A patient with Ehlers Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene
... In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers- Danlos syndrome type VI (EDS ...
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Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review
... CCF: Carotid-cavernous fistula; CI: Confidence interval; CS: Cavernous sinus; ECA: External carotid artery; EDS: Ehlers-Danlos syndrome; ICA: Internal carotid artery; IMT: Intima-media t[r] ...
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Vascular type Ehlers Danlos syndrome caused by a hitherto unknown genetic mutation: a case report
... Case presentation: A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural ...
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Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review
... Results: Two RCTs including a total of 86 participants were eligible for inclusion. Trials evaluated differences between generalised versus targeted physiotherapy programs and between performing knee extension exercises ...
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Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
... Ehlers-Danlos Syndrome (EDS, Orphanumber: ORPHA98249) is an umbrella term for a growing number of heritable connective tissue disorders, mainly featuring joint hyper- mobility and instability, skin texture ...
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Ehlers Danlos syndromes: state of the art on clinical practice guidelines
... Provenance and peer review Commissioned; externally peer reviewed. data sharing statement The manuscript reports the effort of the eRN ReCONNeT working group on ehlers-Danlos syndromes to assess current ...
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The Ehlers Danlos syndrome: on beyond collagens
... The Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder affecting as many as 1 in 5,000 individuals ...
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Ehlers-Danlos syndrome type IV
... of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels ...
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A Review on Ehlers-Danlos Syndrome
... have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile ...vascular Ehlers-Danlos syndrome, can cause the walls of the blood vessels, intestines or uterus to ...
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Case – Penile fracture in a patient with Ehlers Danlos syndrome
... abandoned in favor of surgical exploration and repair. 1-3 In the absence of urethral injury, a slight delay in surgical repair (less than one week) has shown no increase in complication rate and allows for resolution of ...
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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
... Consistent with the proposed criteria, our patient further reinforces the concept that short stature and muscle hypotonia really seem the prominent features of spEDS- B4GALT7 , since the[r] ...
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α2-Macroglobulin Deficiency in a Patient With Ehlers-Danlos Syndrome
... All members, including the patient, had normal serum albumin and a,- antitrypsin levels.. The deficiency, reported here for the first time, appears to be inherited by an autosomal co-dom[r] ...
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Systematic data querying of large pediatric biorepository identifies novel Ehlers Danlos Syndrome variant
... After a negative screen for known mutations, we performed whole genome sequencing on the male proband, his affected father, and unaffected mother.. We filtered the list of nonsynonymous [r] ...
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Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers–Danlos syndrome: a case report
... Conclusion: Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the ...
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Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge
... the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was ...
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Arthralgias, fatigue, paresthesias and visceral pain: can joint hypermobility solve the puzzle? A case report
... Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.. Beighton P, Solomon L, Soskolne CL.[r] ...
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