Article
Ophthalmology
Hashem H. Ghoraba, Darius M. Moshfeghi
Summary: This study reports a novel finding of retinal arterial tortuosity (RAT) associated with Ehlers-Danlos syndromes (EDS). Among the 142 included patients with confirmed EDS diagnosis, 37.3% had definite RAT, with 39.2% of eyes showing mild RAT and 84.9% showing involvement of first-order retinal arterioles.
Article
Biochemistry & Molecular Biology
Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bak, Marta Heise, Anna Latos-Bielenska, Jacek Zaremba, Alicja Bartoszewska-Kubiak, Olga Haus
Summary: This study utilized NGS technology to detect variants in multiple genes, revealing the association between variants in COL5A1, COL5A2, COL1A1, and COL1A2 genes and cEDS patients. The results demonstrate the potential of next-generation sequencing in aiding the diagnosis of EDS and other connective tissue disorders, and highlight the yet undiscovered causative genes.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2022)
Review
Dermatology
Brent J. Doolan, Mark Lavallee, Ingrid Hausser, E. Michael Pope, Suranjith L. Seneviratne, Ingrid M. Winship, Nigel P. Burrows
Summary: This study systematically reviewed the cutaneous features and adjunct investigations of Ehlers-Danlos syndromes (EDS). The study found that EDS patients often exhibit skin hyperextensibility, easy bruising, and skin fragility. Skin biopsies showed that only 30.3% and 71.4% of patients exhibited features suggestive of EDS using light microscopy and transmission electron microscopy, respectively. An accurate clinical diagnosis can increase the chances of a molecular diagnosis and reduce the need for genetic testing in low clinical suspicion cases.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2023)
Article
Genetics & Heredity
Fang Yang, Rong-Juan Yang, Qian Li, Jing Zhang, Yan-Xin Meng, Xiao-Jun Liu, Yong-Feng Yao
Summary: This study identified three new diagnostic variants in patients with different subtypes of EDS, expanding the mutation spectrum of the condition. The findings also highlighted the effectiveness of WES in the differential diagnosis of disorders with overlapping phenotypes and various pathogenesis.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Medicine, Research & Experimental
Marvin Miller
Summary: Studies have shown that infants with joint hypermobility, especially those born to mothers with autosomal dominant hypermobile Ehlers Danlos Syndrome, have an increased risk of fractures. However, this increased fracture risk is temporary and mainly observed in the first 6 months of life, suggesting a different mechanism for the etiology of fractures in infants with joint hypermobility.
MEDICAL HYPOTHESES
(2022)
Article
Primary Health Care
Kenneth S. Yew, Kara A. Kamps-Schmitt, Robyn Borge
Summary: Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders are the most common symptomatic joint hypermobility conditions in clinical practice. The 2017 diagnostic criteria aid in distinguishing between these conditions, with the main goals of therapy being symptom management, joint injury prevention, and patient education.
AMERICAN FAMILY PHYSICIAN
(2021)
Article
Rehabilitation
Adrien Hakimi, Cyrille Bergoin, Patrick Mucci
Summary: According to the questionnaire responses, patients with hEDS identified pain, fatigue and sleep disorders, and musculoskeletal disorders as the most impactful symptoms on their well-being.
DISABILITY AND REHABILITATION
(2022)
Article
Medicine, Research & Experimental
Stacey M. M. Menton, DeLisa Fairweather, Katelyn A. A. Bruno, Chandler C. C. Thompson, Estephania Candelo, Ashley A. A. Darakjian, Jessica M. M. Gehin, Angita Jain, Archana Kotha, Emily R. R. Whelan, Zhuo Li, Dacre R. T. Knight, Amy L. L. Rutt
Summary: The aim of this study was to investigate laryngological complaints in patients with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD). The study found that patients with hEDS/HSD had a higher proportion of positive responses to laryngeal dysfunction question compared to the control group, and they were more likely to experience voice, upper airway, and swallowing symptoms, with higher prevalence rates.
Review
Genetics & Heredity
Jessica Z. Song, Dorothy Luong, Estee C. H. Feldman, Susan Tran, Laure Perrier, Kathleen Eubanks, Mark Bayley, Monika Kastner, Maxwell Slepian, Sarah E. P. Munce
Summary: The purpose of this study was to identify the evidence on psychological interventions for individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). The scoping review included 10 studies reporting on the psychological interventions for EDS, HSD, or both. The findings suggest that there is a critical need for more high-quality research to validate the existing studies on psychological interventions for individuals with EDS/HSD.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Gastroenterology & Hepatology
Anisa Choudhary, Paul F. Vollebregt, Qasim Aziz, S. Mark Scott, Asma Fikree
Summary: Rectal hyposensitivity is a common pathophysiological factor in females with functional constipation and hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder, which may be due to altered rectal biomechanics/neuronal pathway dysfunction.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Gastroenterology & Hepatology
Ching Y. Lam, Olafur S. Palsson, William E. Whitehead, Ami D. Sperber, Hans Tornblom, Magnus Simren, Imran Aziz
Summary: Individuals with HSD/hEDS have a high prevalence of Rome IV FGIDs, with factors such as number of somatic symptoms, quality of life, and healthcare utilization playing a role. Treatment of somatic symptoms related to FGIDs should be emphasized in patients with HSD/hEDS to reduce the burden of gastrointestinal illness.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Review
Medicine, General & Internal
Brent J. Doolan, Mark E. Lavallee, Ingrid Hausser, Jane R. Schubart, F. Michael Pope, Suranjith L. Seneviratne, Ingrid M. Winship, Nigel P. Burrows
Summary: The Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by fragility to skin, soft tissue, and certain internal organs, leading to significant complications such as arterial rupture, bowel perforation, and joint difficulties. There are currently 14 subtypes of EDS, all except one having a known genetic cause. Understanding the extracutaneous features and complications of each subtype is important for optimal clinical care and prevention of further complications.
FRONTIERS IN MEDICINE
(2023)
Article
Health Care Sciences & Services
William R. Black, Jordan T. Jones, Eric T. Rush, Lindsey Malloy Walton, Ashley Harding
Summary: Ehlers-Danlos Syndromes (EDS) is a common group of connective tissue disorders with overlapping symptoms that may require attention from multiple medical subspecialities. Implementing multidisciplinary care for EDS can be challenging due to a lack of knowledge, comfort, and time management. The development of multidisciplinary clinics for EDS is limited by resources and personnel, but it is essential for improving EDS care globally.
JOURNAL OF MULTIDISCIPLINARY HEALTHCARE
(2023)
Review
Genetics & Heredity
Ulrike Lepperdinger, Johannes Zschocke, Ines Kapferer-Seebacher
Summary: Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders that manifest distinct pathologies in the teeth and oral cavity, affecting oral health-related quality of life. Standardization of diagnostic criteria is essential for resolving remaining questions, with specialized centers needing to apply congruent approaches to characterize clinical features and conduct genetic validation uniformly.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2021)
Review
Clinical Neurology
Gordon Mao, Srujan Kopparapu, Yike Jin, A. Daniel Davidar, Andrew M. Hersh, Carly Weber-Levine, Nicholas Theodore
Summary: Ehlers-Danlos syndrome is a rare hereditary condition that can cause ligamentous laxity and hypermobility of the cervical spine. Surgical decision-making in these patients is complicated by the difficulty of distinguishing true pathological instability from the inherent hypermobility of the disease. There is a lack of data supporting proposed radiographic parameters for spinal instability among EDS patients, and more research is needed to determine the efficacy of surgical interventions.
Article
Genetics & Heredity
Olivia J. Veatch, Christopher R. Bauer, Brendan T. Keenan, Navya S. Josyula, Diego R. Mazzotti, Kanika Bagai, Beth A. Malow, Janet D. Robishaw, Allan Pack, Sarah A. Pendergrass
BMC MEDICAL GENOMICS
(2020)
Article
Biochemistry & Molecular Biology
Olivia J. Veatch, Merlin G. Butler, Sarah H. Elsea, Beth A. Malow, James S. Sutcliffe, Jason H. Moore
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Biochemistry & Molecular Biology
Isaac Baldwin, Robin L. Shafer, Waheeda A. Hossain, Sumedha Gunewardena, Olivia J. Veatch, Matthew W. Mosconi, Merlin G. Butler
Summary: The 15811.2 BP1-BP2 deletion syndrome is becoming increasingly common in patients with neurodevelopmental or ASD, with additional genomic variation likely influencing symptom expression. Whole-exome sequencing in affected families identified 453 genes with potentially damaging variants, shedding light on the genetic factors impacting symptoms in Burnside-Butler syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Jordan Dietrich, Scott Lovell, Olivia J. Veatch, Merlin G. Butler
Summary: Variants in the PHIP gene are linked to the clinical phenotype of Chung-Jansen syndrome. 35 patients with unique variants impacting the encoded protein product have been reported. A rare pathogenic variant with a five base pair deletion at I307 leading to an altered codon and a stop codon downstream was identified.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Biochemistry & Molecular Biology
Brendan T. Keenan, Raymond J. Galante, Jie Lian, Lin Zhang, Xiaofeng Guo, Olivia J. Veatch, Elissa J. Chesler, W. Timothy O'Brien, Karen L. Svenson, Gary A. Churchill, Allan Pack
Summary: This study identified a previously unreported gene, Dpyd, affecting sleep duration through mouse models. The lack of Dpyd led to reduced sleep in mice, and beta-alanine was confirmed as a neurotransmitter that promotes sleep in mice.
Article
Clinical Neurology
Olivia J. Veatch, Beth A. Malow, Hye-Seung Lee, Aryn Knight, Judy O. Barrish, Jeffrey L. Neul, Jane B. Lane, Steven A. Skinner, Walter E. Kaufmann, Jennifer L. Miller, Daniel J. Driscoll, Lynne M. Bird, Merlin G. Butler, Elisabeth M. Dykens, June-Anne Gold, Virginia Kimonis, Carlos A. Bacino, Wen-Hann Tan, Sanjeev Kothare, Sarika U. Peters, Alan K. Percy, Daniel G. Glaze
Summary: Individuals with Rett, Angelman, and Prader-Willi syndromes frequently experience sleep problems, including sleep disordered breathing. Sleep problems were also reported in unaffected siblings, except for sleep-related breathing disturbances associated with genetic syndromes.
PEDIATRIC NEUROLOGY
(2021)
Review
Clinical Neurology
Fusun Doldur-Balli, Toshihiro Imamura, Olivia J. Veatch, Naihua N. Gong, Diane C. Lim, Michael P. Hart, Ted Abel, Matthew S. Kayser, Edward S. Brodkin, Allan Pack
Summary: Sleep disturbances often accompany neurodevelopmental disorders, including Autism Spectrum Disorder (ASD). These disturbances may contribute to behavioral deficits and affect neuropathogenesis. Sleep interventions have been found to improve sleep and daytime behaviors in children with ASD. This study examines sleep phenotypes in various model systems and suggests that synaptic dysfunction may connect ASD and sleep disturbances. Targeting synaptic function could be a novel approach to therapy for individuals with ASD experiencing sleep disturbances.
SLEEP MEDICINE REVIEWS
(2022)
Article
Biochemistry & Molecular Biology
N. R. C. Wilson, Olivia J. Veatch, Steven M. Johnson
Summary: This review provides an overview of the relationship between diabetes, obstructive sleep apnea (OSA), obesity, and heart disease, questioning the traditional understanding. It explores the evolutionary rationale for OSA and the concept of epigenetics, and presents the results of a literature search on epigenetic marks and gene expression changes. Alternative explanations for the etiology of these interlinking diseases are also explored.
Article
Genetics & Heredity
Jacob Steinle, Waheeda A. Hossain, Olivia J. Veatch, Samuel P. Strom, Merlin G. Butler
Summary: The study identified 117 gene variants in a cohort of 100 patients using next-generation sequencing, with 10 variants classified as pathogenic or likely pathogenic. Collagen-related protein gene variants were the most frequent, and joint hypermobility was the most common clinical finding among patients with heritable connective tissue disorders.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Olivia J. Veatch, Jacob Steinle, Waheeda A. Hossain, Merlin G. Butler
Summary: This study analyzed clinical exam data and genetic testing results to characterize phenotype-genotype relationships in patients with heritable connective tissue disorders (HCTDs). The study identified specific variants and symptom profiles in HCTD patients, and categorized the patients into three distinct groups based on age, gender, and the presence or absence of symptoms in different organ systems.
BMC MEDICAL GENOMICS
(2022)
Review
Biochemistry & Molecular Biology
Merlin G. Butler, Waheeda A. Hossain, Jacob Steinle, Harry Gao, Eleina Cox, Yuxin Niu, May Quach, Olivia J. Veatch
Summary: Fragile X syndrome is a common inherited cause of intellectual disabilities, and recent studies have found an association between intermediate or gray zone alleles and connective tissue involvement in females.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Olivia J. Veatch, Diego R. Mazzotti, Robert T. Schultz, Ted Abel, Jacob J. Michaelson, Edward S. Brodkin, Birkan Tunc, Susan G. Assouline, Thomas Nickl-Jockschat, Beth A. Malow, James S. Sutcliffe, Allan Pack
Summary: By analyzing genetic variations associated with autism spectrum disorder (ASD) and sleep disturbances, this study found that individuals with ASD who accumulate potentially damaging genetic variants are more likely to experience sleep duration problems. Specifically, dysfunction in the development of the cerebral cortex may disrupt sleep homeostasis, which is regulated by this brain region.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Behavioral Sciences
Beth A. Malow, Olivia J. Veatch, Xinnan Niu, Kasey A. Fitzpatrick, Donald Hucks, Angie Maxwell-Horn, Lea K. Davis
Summary: We have developed an approach to identify autism charts with high sensitivity using key terms, even in the absence of ICD-CM codes. Relying solely on ICD-CM codes may include false positive cases and exclude true cases of autism.
Review
Oncology
Manuel Sanchez-de-la-Torre, Carolina Cubillos, Olivia J. Veatch, Francisco Garcia-Rio, David Gozal, Miguel Angel Martinez-Garcia
Summary: Previous clinical studies have shown that obstructive sleep apnea (OSA) is related to certain types of cancer, but the relationship is complex and diverse due to various underlying pathophysiological mechanisms. The hypoxia inducible transcription factor (HIF-1 alpha), expressed in situations of hypoxemia like OSA, seems to be a key factor. However, recent research has discovered additional pathophysiological pathways involving biomarkers, immune cell dysfunction, exosomes, genetics, and microbiome alterations. Moreover, different tumor cell lines respond differently to intermittent hypoxia. This indicates that the relationship between OSA and cancer is multifaceted and involves multiple factors.