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Familial Joint Laxity

Joint Instability Syndrome


Presentation

  • Among the 23 subjects with limited workup, 5 (21.74%) presented with a rheumatological disease (psoriasis, RA, PMR).[acrabstracts.org]
  • The presently reported ultrastructural findings are in line with such concept. The present study represents the first attempt using skin ultrastruture for distinguishing EDSH and JHS from FM.[omicsonline.org]
  • Due to the patient’s presentation, we felt that he was presenting with a threatened limb and the patient was emergently taken to the peripheral catheterization laboratory for angiography.[vasculardiseasemanagement.com]
  • Patients present with varying degrees of hyperelastic skin, joint hypermobility, and tissue fragility (including that of vasculature).[amboss.com]
  • E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders.[cda-adc.ca]
Fever
  • Seite 131 - Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 1998;77:268-297. ‎[books.google.de]
  • […] individuals experiencing these complications by age 40 years. 2 Case Report A 15-year-old adolescent boy with a suspected bleeding disorder presented with a 4-day history of intermittent suprapubic pain, constipation, decreased appetite, and low-grade fevers[acgcasereports.gi.org]
  • Kasapçopur O, Tengirsek M, Ercan G, Yologlu N, Caliskan S, et al. (2004) Hypermobility and fibromyalgia frequency in childhood familial Mediterranean fever. Clin Exp Rheumatol 22: 79.[omicsonline.org]
  • Periodic fever syndrome panel ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1,... Primary antibody deficiency panel ADA, AICDA, ATM, BLNK, BTK, CD19, CD40,... Susceptibility to atypical mycobacterium disease panel CYBB, IFNGR1, IFNGR2, IKBKG, IL12A,...[centogene.com]
Goiter
  • MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND[books.google.com]
Thyroid Nodule
  • MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID[books.google.com]
Heart Disease
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.de]
  • NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 Del Dup NGS Congenital heart[ctgt.net]
  • Whole exome data from the National Heart, Lung, and Blood Institute Grand Opportunity (NHLBI GO) ESP provided sequencing results of all protein-coding regions in 6,503 individuals without heart disease ( 12 ).[spandidos-publications.com]
  • Disease Ana Morales, Dawn C.[nature.com]
Pigmented Scar
  • Repeated trauma to the knees, elbows and shins leads to pigmented scarring. In addition, the skin develops thin "cigarette-paper" scars as a result of trauma.[themedicalbiochemistrypage.org]
Osteoporosis
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.de]
  • Chromosomal band q21.3 Imprinted Unknown Genomic reference LRG_2 Transcript reference NM_000089.3 Exon/intron information NM_000089.3 exon/intron table Associated with diseases EDS, EDS-7B, OI, OI-2, OI-3, OI-4, Ehlers-Danlos syndrome, cardiac valvular form, osteoporosis[databases.lovd.nl]
  • FKBP14 Collagen Diagnostic Lab 81479 IFITM5 gDNA Testing Osteogenesis Imperfecta IFITM5 Collagen Diagnostic Lab 81479 PLOD1 gDNA Testing Ehlers Danlos Syndrome type VI (Ocular-scoliotic) PLOD1 Collagen Diagnostic Lab 81479 PLS3 gDNA Testing X-Linked Osteoporosis[uwcpdx.org]
  • TNFSF11 Osteopetrosis, autosomal recessive type 3 CA2 Osteopetrosis, autosomal recessive type 4 CLCN7 Osteopetrosis, autosomal recessive type 5 OSTM1 Osteopetrosis, autosomal recessive type 6 PLEKHM1 Osteopetrosis, autosomal recessive type 7 TNFRSF11A Osteoporosis[centogene.com]
Spastic Paraplegia
  • Genes in the Ehlers-Danlos Syndrome Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ABCC6 * Pseudoxanthoma elasticum AR 352 377 ADAMTS2 Ehlers-Danlos syndrome AR 8 11 ALDH18A1 Spastic paraplegia, Cutis laxa AD[blueprintgenetics.com]

Workup

  • Subjects were further sorted into the categories of “no rheumatological workup” (ie physical exam only), “limited workup” (ie only ANA and RF), or “complete workup” (all serological markers, HLA B27, ESR, and CRP, etc).[acrabstracts.org]
Cavitary Lesion
  • lesion on chest X-ray as the initial complications 2009 著者名/発表者名 Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, Yamaguchi S, Yoneda K, Miyahara Y, Kagiyama N, Tokunaga D, Aoki F, Saito H, Kurashima K, Ubukata M, Yanagisawa[kaken.nii.ac.jp]
  • The prophylactic use of desmopressin to control primary haemostasis has been proposed [ 33 ]. 4) Pleuropulmonary complications Pneumothoraces, haemoptysis [ 34 ] and haemorrhagic cavitary lesions [ 35 ] of the pulmonary parenchyma have occurred in several[ojrd.biomedcentral.com]
Abnormal Thyroid Function Test
  • THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL[books.google.com]
Hyponatremia
  • 脊髄硬膜外血腫で発症した Spinal epidural AVF の1例 島省吾、新見康成、岡田芳和、望月達城、望月悠一、佐藤慎祐、桑本健太郎 第57回 日本定位・機能神経外科学会 2018.1 ボツリヌス治療抵抗性の眼瞼痙攣に対する片側 pallidotomy の有用性 島省吾、新見康成、岡田芳和、望月達城、望月悠一、佐藤慎祐、桑本健太郎 A Systematic Review and Meta-Analysis 2018.1 Joint Neurosurgical Convention 2018 Hyponatremia[hospital.luke.ac.jp]

Treatment

  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.de]
  • The treatment for a patient with EDS can include small specific mobilization (slower and gentler movement than manipulation) from the chiropractor.[applehealthwellness.com]
  • She started progressively on a treatment with Modopar (62,5mg q3d).[symbiosisonlinepublishing.com]
  • Each specific treatment protocol is individually designed and specialized for the affected individual in order to meet the needs of that specific patient.[physio-pedia.com]
  • Seeking a Diagnosis and Treatment For a parent, EDS feels like walking through a minefield with your child.[complexchild.org]

Prognosis

  • Progress and Prognosis of EDS While prognosis depends on the type of the syndrome, early diagnosis certainly increases the life span and improves life quality.[lecturio.com]
  • In genetic advising and prognosis of the EDS patients, there is a need for new tools to separate them from hypermobile patients.[ehlersdanlos.ca]
  • Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376}[amboss.com]
  • The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel.[emedicine.medscape.com]

Etiology

  • […] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology[en.wikibooks.org]
  • Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 defective connective tissue microfibrils defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes[amboss.com]
  • Etiology of EDS Ehlers-Danlos syndrome caused by gene mutations More than a dozen gene mutations have been found in association with EDS. The classical type of the disease is a consequence of mutation in either COL5A1 or COL5A2 gene.[lecturio.com]
  • The usual medical culture perceives a disease as an entity that has an etiological basis, which presents a characteristic clinical picture, and which requires appropriate treatment.[avensonline.org]
  • (Etiology) Ehlers-Danlos Syndrome, Arthrochalasia Type is caused by mutation(s) in the COL1A1 or COL1A2 genes. These genes code for type 1 collagen, which is found in abundance in the human body.[dovemed.com]

Epidemiology

  • Epidemiology of EDS While mild or incomplete forms are more common but undiagnosed, the prevalence of EDS is 1 in 400.000 people. It is often diagnosed in childhood and has no racial predominance.[lecturio.com]
  • A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome.[cda-adc.ca]
  • Epidemiology Frequency International Worldwide, more than 1.5 million people are diagnosed with Ehlers-Danlos syndrome (EDS). EDS (all types combined) is reported to have a 1 in 5,000-10,000 population frequency.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS.[symbiosisonlinepublishing.com]
  • Other gene mutations include: TNXB (small percentage in hypermobility type) COL3A1 (vascular type) PLODA1 (kyphoscoliosis type) COL1A1, COL1A2 (arthrochalasia type) ADAMTS2 (dermatosparixis) Pathophysiology of EDS The inherited group of disorders is a[lecturio.com]
  • Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability.[emedicine.medscape.com]
  • Jahan F, Nanji K, Qidwai W, Qasim R (2012) Fibromyalgia syndrome: an overview of pathophysiology, diagnosis and management. Oman Med J 27: 192-195.[omicsonline.org]

Prevention

  • Physical therapy aims to improve strength of muscles surrounding a joint, thereby stabilizing the area and preventing dislocations.[scoliosisassociates.com]
  • In additional, there are several steps you can take to prevent injury.[healthline.com]
  • Primary prevention includes genetic counseling, while tertiary prevention involves regular monitoring for complications.[amboss.com]
  • Ehlers-Danlos Syndrome, Arthrochalasia Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence.[dovemed.com]
  • Treatment of EDS typically consists of management of specific signs and symptoms of the condition as well as lifestyle adjustments to prevent injury/complications.[physio-pedia.com]

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