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Ehlers-Danlos syndrome, vascular type (vEDS)

Vascular type Ehlers Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Vascular type Ehlers Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

... for vEDS according to Beighton et ...of vEDS, a biopsy examination of skin from her upper right arm was per- formed, along with analysis of the type III collagen produc- tion capacity of cultured ...

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Next generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

Next generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

... Vascular type of EDS (vEDS), also known as EDS type IV (NIM#130050), is a rare inherited autosomal dominant disorder with an estimated prevalence of 1 in ...of vascular EDS: (1) rupture ...

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Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

... In vEDS patients, spontaneous rupture of a tortuous ICA emerging from the petrous bone into the CS can result in a direct fistula with [8, 15, 19] or without [6, 10, 19, 26, 39, 49] a previous known intracranial ...

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Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

... collagen vascular disorder was suspected, and genetic testing revealed a mutation in the collagen type III, a1 (COL3A1) gene, which is consistent with a diagnosis of Ehlers-Danlos ...

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Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

... The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome ...22 vascular type EDS patients were studied for hemoglobin, ...

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Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV

... Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial ...

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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

... EDS type IV. Antenatal vascular event was previously reported in two patients with EDS VIA, only ...antenatal vascular events in our EDS VIA col- lective increases the likelihood of their direct ...

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Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV

<p>Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV</p>

... – Danlos syndrome (EDS) type IV, the vascular type, is an autosomal dominant disorder caused by mutations in ...EDS type IV accounts for 5 – 10% of EDS. 1 Patients with ...

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Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study

Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study

... the vascular or classical types of EDS may be associated with genetic variations, the diagnosis of hEDS is based solely on clinical ...mobile syndrome (JHS) and hEDS could be the same clin- ical entity ...

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Intracranial Venous Sinus Stenting Improves Headaches and Cognitive Dysfunction Associated with Ehlers-Danlos Syndrome Type III

Intracranial Venous Sinus Stenting Improves Headaches and Cognitive Dysfunction Associated with Ehlers-Danlos Syndrome Type III

... Diagnostic Angiography, Venography, and Manometry Cerebral angiography, venography, and venous manometry was performed under minimal conscious sedation. Cerebral angiography from a transfemoral arterial approach was ...

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A Review on Ehlers-Danlos Syndrome

A Review on Ehlers-Danlos Syndrome

... The inheritance pattern of EDS varies by type. The arthrochalasia, classical, hypermobility, and vascular forms of the disorder have an autosomal dominant pattern of inheritance. Autosomal dominant ...

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Case – Penile fracture in a patient with Ehlers Danlos syndrome

Case – Penile fracture in a patient with Ehlers Danlos syndrome

... 5. Obtain meticulous hemostasis during surgery. Monitor wounds closely for hematoma development post-operatively. Prophylactic anticoagulation (Heparin or Enoxaparin) should be considered with caution, particularly in ...

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Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study

Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study

... Our study has limitations. First, it is retrospective in nature. The multiple imaging modalities (CTA, MRA, and DSA) used to iden- tify intracranial aneurysms can cause differences in the accuracy of aneurysm detection ...

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CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE

CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE

... A dermatologist, independently seeing one of the children years before at Kings County Hospital, felt that this dis- order represented an atypical form of Ehlers-. Danlos syndrome, as di[r] ...

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An Overview of Hutchinson Gilford Progeria Syndrome (HGPS)

An Overview of Hutchinson Gilford Progeria Syndrome (HGPS)

... Furthermore there are radiological features such as: Thin calvarium and relatively large, the diploic space is absent or very shallow; the face is small with a disproportionate small mandible. The ascending rami of the ...

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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

... spEDS-B4GALT7 is an extremely rare and consequently poorly characterized entity. In the past, nosologic con- fusion characterized this disorder, since patients with B4GALT7 mutations were alternatively labelled as EDS ...

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Brittle cornea syndrome: recognition, molecular diagnosis and management

Brittle cornea syndrome: recognition, molecular diagnosis and management

... Izquierdo et al. [12] carried out corneal transplantation on a child with BCS and spontaneous corneal rupture. They used a traditional limbus-to-limbus technique but placed sutures further across the recipient cornea in ...

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A patient with Ehlers Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene

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 ...

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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

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

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

... available. Widespread genetic testing, especially of abor- tions and symptomatic offspring of heterozygous (A/G) pairings, will help to obtain a more detailed description of the clinical signs that may be caused by this ...

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