However some SLE patients may present a more severe joint involvement requiring aggressive therapy. [biomedsearch.com]

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. [diseaseinfosearch.org]

Abstract André Mégarbané, Agnès Sanders, Eliane Chouery, Valérie Delague, Myrna Medlej-Hashim and Paul-Henri Torbey The Journal of Rheumatology May 2002, 29 (5) 1084-1087; Abstract A young boy from nonconsanguineous Palestinian parents presented with [jrheum.org]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

• Wheelchair Bound

  Those with more severe manifestations are wheelchair bound between ages three and 12 years [ Zankl et al 2005, Rouzier et al 2006, Temtamy et al 2012 ]. Face. [ncbi.nlm.nih.gov]

• Hemophilia A

  Shubha Phadke, Rheumatic Manifestations of Genetic Disorders and Hemophilia, Pediatric Rheumatology, 10.1007/978-981-10-1750-6_47, (595-609), (2016). [doi.org]

• Mitral Valve Prolapse

  Congenital heart defects (transposition of great arteries, atrial septal defect, ventricular septal defect, bicuspid aortic valve, and mitral valve prolapse) have been observed in one third of individuals reported to date [ Tuysuz et al 2009, Castberg [ncbi.nlm.nih.gov]

• Malocclusion

  Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. [ncbi.nlm.nih.gov]

• Flexion Contracture

  Camptodactyly of toe MedGen UID: 867404 • Concept ID: C4021774 • Anatomical Abnormality Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. [ncbi.nlm.nih.gov]

• Hirsutism

  Coarse face and body hirsutism are additional features. Source: Online Mendelian Inheritance in Man [diseaseinfosearch.org]

  Coarse face and body hirsutism are additional features. (259600) MalaCards based summary : Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as torg-winchester syndrome, is related to winchester syndrome and multicentric carpotarsal osteolysis [malacards.org]

  Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. [ncbi.nlm.nih.gov]

• Coarseness of the Skin

  Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years). [ncbi.nlm.nih.gov]

• Cutaneous Manifestation

  Other cutaneous manifestations include hyperpigmentation and thickening. Serpiginous hyperpigmented cutaneous lesions are present in a few individuals ( Figures 3C and 3D ) [ Zankl et al 2005, Azzollini et al 2014, Bhavani et al 2016 ]. [ncbi.nlm.nih.gov]

• Bulbous Nose

  Bulbous nose MedGen UID: 66013 • Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

Serologic workup revealed positive rheumatoid factor (RF) and anti-cyclic citrullinated protein (anti-CCP) antibodies. [biomedsearch.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]

It is also used for the treatment and prevention of BACTERIAL VAGINOSIS. [bioportfolio.com]

Given that the treatment options for conditions such as IMO are limited, we conclude that bisphosphonate therapy could be considered for treatment of IMO as it appears safe and has potential benefits as described above. [ped-rheum.biomedcentral.com]

Using standardized diagnostic ... 45 Infliximab-induced psoriasis in treatment of Crohn's disease-associated ankylosing spondylitis: case report and ... [biomedsearch.com]

Treatment options are limited. The investigators reviewed the outcome of patients affected with MONA and treated with intravenous bisphosphonates in the clinical Center. [clinicaltrials.gov]

Prognosis Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674 Saudi Med J 2005 Jan;26(1):24-30. [ncbi.nlm.nih.gov]

In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 402-403. Girisha, KM Gaucher Disease. In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 404-405. This list was generated on Mon May 13 06:36:38 2019 UTC . [eprints.manipal.edu]

A functional role for KLF6-SV1 in lung adenocarcinoma prognosis and chemotherapy response. Cancer Research. 68: 965-70. [academictree.org]

[…] abstract structured in up to 10 sections: Definition of the disease – Epidemiology – Clinical description – Aetiology – Diagnostic methods – Differential diagnosis - Genetic counseling (if relevant) – Antenatal diagnosis (if relevant) – Management – Prognosis [doczz.fr]

Electronic address: - - 2014 Infectious arthritis is a medical emergency whose prognosis, in terms of general morbidity and the final functionality of the joint, depends on rapid diagnosis and treatment. [biomedsearch.com]

- - 2014 Dysplasia epiphysealis hemimelica is a rare developmental disorder with unknown etiology affecting epiphysis mostly in childhood. [biomedsearch.com]

History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, pp.2759-2767, 2016 Bayram Y., Karaca E., Akdemir Z.C., Yilmaz E.O., Tayfun G.A., Aydin H., et al., "Molecular etiology [aves.istanbul.edu.tr]

Epidemiology rare Pathology destruction & resorption of affected bones Genetics autosomal recessive associated with defects in MMP2 Clinical-manifestations osteolysis with multicentric involvement carpal & tarsal resorption crippling arthritic changes [anvita.info]

In some cases, the experts are contacted to answer a specific question (on nomenclature, on genetics or on epidemiological data) in order to update the Orphanet content. [doczz.fr]

Relevant External Links for MMP14 Genetic Association Database (GAD) MMP14 Human Genome Epidemiology (HuGE) Navigator MMP14 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MMP14 No data available for Genatlas for MMP14 Gene Regulation [genecards.org]

As the pathophysiology is unknown, differential diagnoses of IMO must include conditions which cause avascular necrosis. [ped-rheum.biomedcentral.com]

It is also used for the treatment and prevention of BACTERIAL VAGINOSIS. [bioportfolio.com]

Ankle contracture MedGen UID: 332440 • Concept ID: C1837407 • Finding A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. [ncbi.nlm.nih.gov]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [chcrr.org]

International Journal of Preventive Medicine, 7 (1). pp. 81-83. [cdfd.sciencecentral.in]

We propose two contracts to prevent conflicts regarding authorship; both are freely available for use without pay but with reference to the original source. [worldwidescience.org]