Visual evoked potential in generalized joint hypermobility: A case –control study
ConclusionOur study could reveal VEP changes, especially significant P100 latency in GJH patients without previous neurologic or musculoskeletal disorders. Whether these changes are due to GJH itself or are predictive of inevitable neurologic disease or visual pathway involvement, particularly Multiple Sclerosis needs further investigation with longer follow-up periods. (Source: Brain and Behavior)
Source: Brain and Behavior - April 20, 2024 Category: Neurology Authors: Leila Sadat Mohamadi Jahromi,
Amin Sayyadi,
Aida Askarian,
Alireza Dabbaghmanesh,
Sharareh Roshanzamir Tags: ORIGINAL ARTICLE Source Type: research
Is Ehlers-Danlos Syndrome a Neglected Cause of Nosebleeds?
Ear Nose Throat J. 2024 Apr 8:1455613241246832. doi: 10.1177/01455613241246832. Online ahead of print.NO ABSTRACTPMID:38590201 | DOI:10.1177/01455613241246832 (Source: Ear, Nose and Throat Journal)
Source: Ear, Nose and Throat Journal - April 9, 2024 Category: ENT & OMF Authors: Fancello Virginia Fancello Giuseppe Liberale Carlotta Ciorba Andrea Monzani Daniele Palma Silvia Source Type: research
Is Ehlers-Danlos Syndrome a Neglected Cause of Nosebleeds?
Ear Nose Throat J. 2024 Apr 8:1455613241246832. doi: 10.1177/01455613241246832. Online ahead of print.NO ABSTRACTPMID:38590201 | DOI:10.1177/01455613241246832 (Source: Ear, Nose and Throat Journal)
Source: Ear, Nose and Throat Journal - April 9, 2024 Category: ENT & OMF Authors: Fancello Virginia Fancello Giuseppe Liberale Carlotta Ciorba Andrea Monzani Daniele Palma Silvia Source Type: research
Genes, Vol. 15, Pages 461: Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases
We described the 15th patient (13th family) diagnosed with clEDS2. This patient presented with notable similarities in phenotype to the documented cases, along with additional characteristics such as significant prematurity and short stature. An EDS sequencing panel-based analysis revealed homozygous AEBP1: NM_001129.5:c.2923del, p.Ala975Profs*22 likely pathogenic variants, and maternally inherited heterozygous COL11A1: NM_001854.4:c.1160A>G, p.Lys387Arg variant of uncertain significance in our patient. Upon comprehensive review of all previously reported clEDS2 patients, our patient exhibited the following over...
Source: Genes - April 6, 2024 Category: Genetics & Stem Cells Authors: Zong Yi Ha Chieko Chijiwa Suzanne Lewis Tags: Case Report Source Type: research
86. Menstrual management in patients with hypermobility disorders
Individuals with hypermobile Ehlers-Danlos Syndrome (hEDS) and Generalized Joint Hypermobility (GJH) have similar menstrual bleeding experiences as individuals with mild inherited bleeding disorders, likely due to abnormalities of collagen which participates in several steps of primary hemostasis. Managing patients with hEDS and GJH is complex, and many providers may not feel comfortable addressing heavy menstrual bleeding (HMB) symptoms in this population. We therefore sought to describe the clinical and management patterns of adolescent and young adult (AYA) patients with hEDS and GJH presenting to a multidisciplinary gy...
Source: Journal of Pediatric and Adolescent Gynecology - April 1, 2024 Category: OBGYN Authors: Patricia Huguelet, Genevieve Moyer, Kellie Woodfield Source Type: research
Developing A Group Biofeedback Intervention for Patients with Hypermobile Ehlers-Danlos Syndrome: Fostering Accessibility in Pain Interventions
Hypermobile Ehlers-Danlos Syndrome (hEDS), characterized by joint instability and connective tissue fragility, is often accompanied by chronic pain and poses unique challenges to both patients and practitioners. Holistic approaches can be beneficial in addressing complex persistent pain. Biofeedback, a non-invasive intervention, can guide patients in exercising voluntary control over autonomic physiologic responses involved in pain. Most methods of biofeedback require specialized training, software, and equipment and must be delivered in the one-on-one context of patient and clinician. (Source: The Journal of Pain)
Source: The Journal of Pain - April 1, 2024 Category: Materials Science Authors: Lindsay G. Flegge, Jill C. Penman Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
Curr Issues Mol Biol. 2024 Mar 19;46(3):2620-2643. doi: 10.3390/cimb46030166.ABSTRACTSystematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Golder N Wilson Vijay S Tonk Source Type: research
