Specific features of urinary system diseases in children with connective tissue dysplasia by T. A. Kryganova

“…There are single studies of these markers in Alport syndrome or au-tosomal dominant polycystic kidney disease while such data on the differentiated types of dysplasia (Ehlers-Danlos syndrome, Marfan's syndrome) are unavailable.…”
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Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability by Forrest Gallagher, B.Sc., Ivan Ho-Bun Wong, M.D., F.R.C.S.(C.), Dip. Sports Medicine, M.A.C.M.

“…One such demographic is patients with connective tissue disorders (CTD) such as Ehlers-Danlos syndrome (EDS), in whom shoulder pathologies are exacerbated owing to ligamentous laxity. …”
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Joint mobility with particular reference to racial variation and inherited connective tissue disorders. by Wordsworth, B, Ogilvie, D, Smith, R, Sykes, B

“…The results were contrasted with those in a group of normal Asian Indians and patients suffering from a variety of inherited disorders including Type II Ehlers-Danlos syndrome (EDS), Type I osteogenesis imperfecta (OI), Marfan syndrome, generalized osteoarthritis (GOA), achondroplasia and pseudoachondroplasia. …”

Acute aortic dissection: pathogenesis, risk factors and diagnosis by Joanna Gawinecka, Felix Schönrath, Arnold von Eckardstein

“…However, patients with genetic connective tissue disorders such as Marfan, Loeys Dietz or Ehlers Danlos syndrome, and patients with bicuspid aortic valves are at the increased risk of aortic dissection at a much younger age. …”
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Autosomal recessive cutis laxa type-1 with complex systemic manifestations by Shruti Dhanraj Chavan, Ashish Ramchandra Deshmukh, Aniruddha Dharnidhar Gulanikar, Shilpa Satyajeet Pathrikar, Iqbal Mohammad Tariq

“…Differential diagnosis includes Ehlers–Danlos syndrome, congenital disorders of glycosylation syndrome, and pseudoxanthoma elasticum. …”
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Functional evolution of ADAMTS genes: Evidence from analyses of phylogeny and gene organization by Van Meir Erwin G, Logsdon John M, Malik Shehre-Banoo, Nicholson Ainsley C

“…ADAMTS proteins have recently gained attention with the discovery of their role in a variety of diseases, including tissue and blood disorders, cancer, osteoarthritis, Alzheimer's and the genetic syndromes Weill-Marchesani syndrome (ADAMTS10), thrombotic thrombocytopenic purpura (ADAMTS13), and Ehlers-Danlos syndrome type VIIC (ADAMTS2) in humans and belted white-spotting mutation in mice (<it>ADAMTS20</it>).…”
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Oral manifestations of primary immunodeficiencies by M. A. Dolgikh, M. A. Bolkov, I. A. Tuzankina, N. G. Sarkisyan, N. A. Hovsepyan

“…The article presents the data on the following syndromes: severe combined immunodeficiency, hyper IgE, Wiskott – Aldrich, DiGeorge, deficiency of STIM1 and ORAI1, NEMO deficiency and IκBα deficiency, common variable immunodeficiency, X-linked agammaglobulinemia, hyper IgM, selective IgA deficiency, autoimmune lymphoproliferative syndrome, autoimmune polyendocrine syndrome type 1, Chediak – Higashi syndrome, CD70 deficiency, severe congenital neutropenia syndromes, leukocyte adhesion deficiency, localized aggressive periodontitis, Papillon – Lefevre syndrome, chronic mucocutaneous candidiasis, Marshall syndrome, hyper IgD syndrome, Aicardi – Goutières syndrome type 7, cherubism syndrome, CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature), PAPA (pyogenic arthritis, pyoderma gangrenosum and acne), chronic recurrent multifocal osteomyelitis, periodontal Ehlers – Danlos syndrome, and C1 inhibitor deficiency. The role of secretory immunoglobulins of salivary fluid is described.…”
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The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development by Shuji Mizumoto, Shuhei Yamada

“…Mutations in human genes encoding the epimerase and sulfotransferase responsible for the biosynthesis of DS chains cause connective tissue disorders including spondylodysplastic type Ehlers–Danlos syndrome, characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. …”
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Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders by Maribel Vazquez, Jack Chovanec, Jiwon Kim, Thomas DiMaggio, Joshua D. Milner, Clair A. Francomano, Christina A. Gurnett, Marco Ritelli, Marina Colombi, Jonathan J. Lyons

“…Genotyping of individuals with hypermobility spectrum disorder (n = 132), hypermobile Ehlers-Danlos syndrome (n = 78), or axial skeletal abnormalities with hypermobility (n = 56) was performed. …”
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Failure or resistance in spinal anesthesia for cesarean section by Aymara Miranda Rodríguez

“…This was positive in conjunction with the Neurology service, Ehlers-Danlos syndrome type 3 was determined.<br /> <strong>Conclusions:</strong> The failure rate is very low for subarachnoid anesthesia. …”
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The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction by Carl A. Gregory, Jocelyn Ma, Sebastian Lomeli

“…For example, genetic studies in humans have identified forms of myopathic Ehlers-Danlos syndrome with overlapping phenotypes that result from mutations in either collagen VI or XII, and biochemical and cell-based studies have identified accessory molecules that could form bridging interactions between the two collagens. …”
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Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms by Barnum R

“…This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly) diagnosed with CD and referred for mental health care. …”
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Computational and experimental studies of collagen and related diseases by Yang, Chen, M. Eng. Massachusetts Institute of Technology

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Beals syndrome (congenital contractural arachnodactyly) in children: Clinical symptoms, diagnosis, treatment, and prevention by A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov

“…The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. …”
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Pigment dispersion syndrome associated with spontaneous subluxation of crystalline lens by Vikas Veerwal, Jawahar Lal Goyal, Parul Jain, Ritu Arora

“…The usual cause of lens subluxation such as Marfan's Syndrome and Ehler's Danlos Syndrome was ruled out. The patient underwent right eye followed by left eye intracapsular cataract extraction with ab-interno technique with postoperative best-corrected visual acuity (BCVA) of 6/9 in both eyes. …”
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Keratoconus: Current perspectives by Nitesh, Sridhar

“…Keratoconus seems to be associated with other eye conditions like eye allergy, retinitits pigmentosa, Leber’s optic atrophy and also with systemic conditions like Marfan’s syndrome and Ehler Danlos syndrome. Rigid gas permeable (RGP) lenses are recomended contact lenses in keratoconus patients with mild to moderate astigmatism. …”
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The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. by Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G Dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E Kraenzlin, Jacques S Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano

“…<h4>Methodology/principal findings</h4>Here we report that mice deficient in Zn transporter Slc39a13/Zip13 show changes in bone, teeth and connective tissue reminiscent of the clinical spectrum of human Ehlers-Danlos syndrome (EDS). The Slc39a13 knockout (Slc39a13-KO) mice show defects in the maturation of osteoblasts, chondrocytes, odontoblasts, and fibroblasts. …”
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Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus by Daro Jeong, Jung Hyun Lee, Seom Gim Kong

“…Similar to Marfan syndrome and Ehlers-Danlos syndrome, this disease has a high risk of aortic aneurysm and aortic dissection. …”
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Complement C1s as a diagnostic marker and therapeutic target: Progress and propective by Jun Ye, Jun Ye, Peng Yang, Yili Yang, Sheng Xia

“…While deficiency of C1s is associated with early-onset systemic lupus erythematosus and increased susceptibility to bacteria infections, the gain-of- function variants of C1r and C1s may lead to periodontal Ehlers Danlos syndrome. As C1s is activated under various pathological conditions and associated with inflammation, autoimmunity, and cancer development, it is becoming an informative biomarker for the diagnosis and treatment of a variety of diseases. …”
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Neuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series by Leonard B. Weinstock, Renee M. Nelson, Svetlana Blitshteyn

“…All eight patients were subsequently diagnosed with mast cell activation syndrome; six had comorbid autonomic disorders, the most common being postural orthostatic tachycardia syndrome; and four had hypermobile Ehlers-Danlos syndrome. All patients experienced significant improvements regarding neuropsychiatric and multisystemic symptoms after mast-cell-directed therapy. …”
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