Results 81 to 90 of about 1,555,246 (206)
A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Johanna Strobl, Peter Maximilian Heil
wiley +1 more source
Laboratory studies show KS has electroconductive properties with the ability to trap and transport protons in neurotransductive processes (Grotthuss proton shuttling). This maintains electrochemical gradients and fluxes at the neuronal cell surface in neural activation. Such processes are central to neuronal cell signaling and communication.
James Melrose
wiley +1 more source
Vascular ehlers-danlos syndrome: a rare disorder presenting with focal convulsions [PDF]
Vascular Ehlers-Danlos Syndrome (VEDS), previously called Ehlers-Danlos syndrome type-IV, is a heterogeneous group of heritable connective tissue disorders characterized by thin, translucent skin, easy bruising, arterial, intestinal, and/or uterine ...
Ahmed, Shakeel +3 more
core
Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?
BACKGROUND: Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.
Martin Wiesmann +14 more
core +1 more source
Vascular Lesions in Ehlers–Danlos Syndrome [PDF]
See related article, pp 203–208 Ehlers–Danlos syndrome refers to a group of genetic disorders with connective tissue defects generated by collagen deficiency and fragility.1,2 It is classified into 6 types: classical, joint hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis.1 The vascular genotype affects 1 in 50 000 to 100 ...
openaire +3 more sources
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Extracellular matrix (ECM) regulates cell proliferation, migration, survival and gene expression, via signal transduction pathways differentially activated by ECM ligands interacting with specific integrins.
ZOPPI, Nicoletta +2 more
core
Ehlers-Danlos syndrome with soft-tissue contractures
We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or ...
S Oshita +4 more
core +1 more source
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source
Hypermobile Ehlers–Danlos syndrome and pregnancy
Ehlers–Danlos syndromes are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders. Hypermobile Ehlers–Danlos syndrome is one of the common types and not infrequently encountered in pregnancy.
Akilandeswari Karthikeyan +1 more
core +1 more source

