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Definition of mixed connective tissue diseases in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is mixed connective tissue diseases? Meaning of mixed connective tissue diseases as a legal term. What does mixed connective tissue diseases mean in law?

TY - JOUR. T1 - Secretory Diarrhea in Mixed Connective Tissue Disease. AU - Thiele, Dwain L. AU - Krejs, G. J.. N1 - Copyright: Copyright 2016 Elsevier B.V., All rights reserved.. PY - 1985/2. Y1 - 1985/2. N2 - Intractable diarrhea of 2 years duration was evaluated in a patient with mixed connective tissue disease and dilatation of the proximal small bowel. Stool analysis revealed secretory diarrhea. Intestinal perfusion studies showed that the jejunum was secreting water and electrolytes. Chloride and bicarbonate secretion against an electrical gradient suggested active anion secretion. Absorption in the ileum was normal. No evidence for bacterial colonization of the small bowel, protein‐losing enteropathy, or a hormonal cause of intestinal secretion could be found. This case report suggests that water and electrolyte secretion in dilated segments of small bowel may be another cause of diarrhea in cases of gastrointestinal involvement by systemic connective tissue disease.. AB - Intractable ...

Looking for online definition of connective tissue diseases in the Medical Dictionary? connective tissue diseases explanation free. What is connective tissue diseases? Meaning of connective tissue diseases medical term. What does connective tissue diseases mean?

TY - JOUR. T1 - Mixed connective tissue disease. AU - Hoffman, Robert W.. AU - Greidinger, Eric L.. PY - 2000. Y1 - 2000. N2 - A defining feature of mixed connective tissue disease (MCTD) is the presence of antibodies against the U1-ribonucleoprotein (RNP) complex, but other autoantibodies in MCTD have recently been described. Research has also further elucidated the immune responses directed against U1-RNP in humans and in murine models of disease. Hypotheses implicating modified self-antigens and/or infectious agents in the pathogenesis of MCTD have been advanced. Links between the immunologic and clinical phenomena in MCTD are emerging. Longitudinal study of patients with MCTD highlights the impact of pulmonary hypertension on disease outcome. (C) 2000 Lippincott Williams and Wilkins, Inc.. AB - A defining feature of mixed connective tissue disease (MCTD) is the presence of antibodies against the U1-ribonucleoprotein (RNP) complex, but other autoantibodies in MCTD have recently been ...

It is often several years before sufficient signs and symptoms appear to make the diagnosis of MCTD, relative to the more sequential clinical manifestations of SLE, scleroderma, and polymyositis, so often, in the initial phases, the diagnosis most appropriate for patients is undifferentiated connective tissue disease.[19] If the patient has edematous hands and/or swollen fingers in conjunction with elevated titers of antinuclear antibodies, an elevated titre of anti-U1 RNP antibody is a good predictor of progressing to MCTD.[20] The presence of this specific antibody is sine qua non for the diagnosis of MCTD,[19] although its isolated presence does not guarantee that a patient has MCTD or will develop it. If the dominant autoantibodies are antiDNAn, Sm, Scl70 or Ro, it is likely the patient will develop another connective disease distinct from MCTD. The clinical manifestations of MCTD appear correlated more intensely to the antibodies against protein A and 68 kD of the U1 RNP complex. The ...

People with mixed connective tissue disease (MCTD) have systemic lupus erythematosus, scleroderma, and polymyositis. Get information on mixed connective tissue disease (MCTD) symptoms, types, treatment, and prognosis.

Best Treatments for Mixed connective tissue disease in Pune : Find Best Doctors, Book Appointment, Call Now, Get Address & numbers of Best Treatments for Mixed connective tissue disease in Pune

Individuals with mixed connective tissue disease have symptoms that overlap with those of two or more connective tissue diseases. These diseases include systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. (For more information on these disorders, see the Related Disorders section of this report.). A condition known as Raynauds phenomenon may precede the development of additional symptoms of MCTD. Raynauds phenomenon, which is seen also in scleroderma, is characterized by painfully cold fingers and toes with blue and/or white color changes caused by spasm of blood vessels in the hands and feet in response to cold or stress. It occurs in approximately 90 percent of individuals with MCTD.. Pain in multiple joints (polyarthralgia) or inflammation of joints (arthritis) also occurs in the majority of affected individuals. Lupus-like skin inflammation in sun-exposed areas and hair loss are common, as are skin scarring changes on the fingers and face like those seen in ...

is a systemic connective tissue disease characterized by the variable association of cardiovascular, musculoskeletal, ocular, and pulmonary symptoms.

TY - JOUR. T1 - Clinical significance of antibodies to a 68 kDa U1RNP polypeptide in connective tissue disease. AU - McHugh, N. AU - James, I. AU - Maddison, P. PY - 1990. Y1 - 1990. N2 - In a series of 163 patients with systemic lupus erythematosus (SLE) and/or systemic sclerosis and/or mixed connective tissue disease (MCTD), the presence of antibodies to a 68 kDa U1RNP associated polypeptide was more predictive for SLE (88%) than for MCTD (38-68%) using 3 different sets of proposed criteria for the latter condition. In all but one case studied serially the immunoblotting profile remained constant. In SLE recognition of the 68 kDa polypeptide identified a subset with increased vasoreactivity with Raynauds phenomenon (96%, p less than 0.001) and swollen fingers (68%, p less than 0.001) whereas recognition of a 47 kDa La (SSB) polypeptide was associated with photosensitivity (72%, p less than 0.02), less renal involvement (p less than 0.05) and an older age of disease onset (46.6 years +/- 18.3 ...

This dissertation describes the results of a population-based case-control study of risk factors for five connective tissue diseases: systemic lupus erythematosus, Sjogrens syndrome, systemic sclerosis/CREST syndrome, polymyositis/dermatomyositis and mixed connective tissue disease.Cases were female residents of King County, Washington who were diagnosed by a rheumatologist between January 1, 1983 and December 31, 1991 as having a disease of interest. Two control groups were used. The new control group was identified by random digit telephone dialing and was frequency matched to the case group on age at diagnosis and calendar year of diagnosis. Mailed questionnaires were used for concurrent data collection on the cases and on the new control group, with a telephone administered questionnaire for non-respondents. The pre-existing control group had been used for three other epidemiologic studies, and was identified and had in-person interviews before 1992, when mass media attention to the ...

This is a photo of a finger ulcer caused by secondary Raynauds phenomenon in a patient with mixed connective tissue disease (MCTD). The MCTD developed after thyroidectomy.

Test for mixed connective tissue disease, an autoimmune disease often referred to as overlap syndrome. RNP antibodies found in 95-100% MCTD patients

Mixed Connective Tissue Disease (MCTD) - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.

Statement of Intent. MCTDfoundation.org is a non-profit, online gathering place, for those living with the Mixed Connective Tissue Disease (MCTD), their friends, families, support systems and medical providers.. We strive to present the most current information available on the overlap autoimmune diseases that comprise MCTD, as well as available treatment options.. We sell MCTD awareness merchandise as a fundraising mechanism to ensure the future of the site, as well as providing educational materials.. We provide forums for those afflicted, as well as blog formatted personal stories of those who care to share their personal journey with the disease. Only when we can share symptoms and histories can we start to identify commonalities. As appropriate, photographs of symptoms will also be filed.. An important aspect to be covered on the website is the impact of the Autoimmune Protocol Paleo diet, one of the clean eating plans that has helped modify the disease process for many patients.. Our ...

Tiddens HA, van der Net JJ, de Graeff-Meeder ER, Fiselier TJ, de Rooij DJ, van Luijk WH, Herzberger R, van Suijlekom LW, van Venrooij WJ, Zegers BJ, et al. Juvenile-onset mixed connective tissue disease: longitudinal follow-up. J Pediatr. 1993 Feb;122(2):191-7. [Medline]. ...

Still, they mean well, dont they? So I should accept their advice with grace and just move on. Shouldnt I?. Maybe yes, maybe no. How will they learn what inflammatory arthritis, rheumatoid arthritis, mixed connective tissue disease, lupus, spondylitis…how will they ever know what these diseases really are and how they affect my life, if I dont educate them?. But educating gets tiring. Its hard work raising awareness, one person at a time. So sometimes I just have a giggle at the weird and wonderful (and conflicting) advice I receive regularly. Sometimes totally opposing advice, from the same person within a few days.. Heres a sample…. You just need to push through the pain! You need to develop a higher pain tolerance!. You should rest more. The pain is telling you to rest your body. If you rest more, youll be fine.. Try eating this. Its an anti-inflammatory super food. (Regardless of the fact that I eat it all the time). Dont EVER eat this! Not ever. Its the cause of all your ...

The paper outlines the experience with minimally invasive surgical technologies for esophageal injury in the presence of systemic connective tissue disease. The clinical example clearly demonstrates the importance of timely diagnosis of esophageal stricture in CREST syndrome and suggests that it is necessary to treat these difficult-to-treat patients at large multiprofile hospitals ...

Mixed connective tissue disease is a rare autoimmune disorder featuring signs and symptoms of three different disorders: lupus, scleroderma and polymyositis.

Patients with juvenile mixed connective tissue disease had impaired left and right ventricular function compared with matched controls after a median of 15 years disease duration.

I have a mixed connective tissue disease that does not currently have a name. I was tested for marfans syndrome and it was negitative, but did show a gene mutation. It just wasnt a recognized one. My immediate family was tested at John Hopkins for ehlers danlos syndrome but it was negitative but also showed a gene malformation. They sent my family home with tons of information on eds because even though we dont have that exact kind it is very similar to it. Anybody else have this problem? My medical problems are extensive and it seems its hit or miss in my family as far as severity!! Any help would be appreciated. Thank you ...

There are a few tips, however, that can make a huge difference during a pregnancy. Staying healthy and fit during pregnancy should be a womans prime concern. Hi Bettany, wish you luck and also remember to consult your doctor instead of relying on self-diagnoses, Take care. I had to have extra appointments at the hospital to have my airways measured incase I need an emergency general aneasthetic. Turns out, the Alaska Business Journal is in a couple of electronic databases that most libraries should have. Nothing against doctors, Western Medicine, or advice from fertility experts, but theres one thing they always miss-something that I call the missing link. Thats the only way to know for sure. THURSDAY (Jupiter): you are polite, considerate, and soft-spoken. The female must not indulge in strenuous exercise. Your doctor may want to confirm the pregnancy with an in office test but mixed connective tissue disease and pregnancy are basically the same as the home tests. The second phase is called ...

Mixed connective tissue disease has signs and symptoms of multiple disorders, making it difficult to diagnose. Theres no cure, but medications can help.

Mixed connective tissue disease patients can claim disability benefits as it is considered as a disability. Read on to know more.

Overview of Mixed connective tissue disease as a medical condition including introduction, prevalence, prognosis, profile, symptoms, diagnosis, misdiagnosis, and treatment

Learn about Mixed connective tissue disease. What are the symptoms, the causes and how to treat this condition? What can we do to cope and prevent it...

Hedayati H, Kloetzli N. Mixed connective tissue disease: report of a case with fatal outcome. J Am Osteopath Assoc 1987;87(9):622. doi: https://doi.org/10.7556/jaoa.1987.87.9.622.. Download citation file:. ...

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Ceftriaxone therapy of chronic inflammatory arthritis. A double-blind placebo controlled trial. Arch Intern Med. 1990 Aug;150(8):1677-82.. In a placebo-controlled, double-blind study of 60 patients with inflammatory arthritis - rheumatoid arthritis (RA), psoriatic arthritis (PsA), vasculitis, and undifferentiated connective tissue disease (UCTD) - who were positive for Lyme disease (borrelia burgdorferi), patients were randomized to be in one of two study arms to either receive an inactive placebo or the antibiotic, ceftriaxone, 2 grams/day, intravenously for 2 weeks. Nearly half of the antibiotic group (19/40 patients) experienced improvement as compared with the placebo group (2/20 patients), who were later able to elect to receive ceftriaxone therapy. Of 58 patients who were treated with IV ceftriaxone, 27 were notably improved at follow-up, 13-24 months later, and responses were seen in all forms of arthritis (RA 5/12, PsA 5/8, vasculitis 3/5, and UCTD 14/33). Of these 27 patients, 16 ...

Results An adolescent girl, aged 11 years, presented herself 6 weeks after developing Raynauds phenomenon on fingers, toes and her tongue at our consultation (image 1). This symptom appeared typically after sudden change of temperature or in stressful situations. She didnt describe pain, only a fizzy sensation on the tongue. After some minutes, the coloration went back to normal. Physical examination revealed a heliotrope rash on the face and arthritis of 10 joints. In the first place, blood exams were performed, suspecting connective tissue disease. These tests revealed high level of anti-nuclear-antibodies (ANA ,5120 U/ml) and presence of anti-RNP 68 (,100U/ml) and anti-U1-RNP (,100U/ml) but no sign of inflammation. The capillaroscopy did not show any signs of desertification or megacapillaries. In the first place, Hydroxychloroquine was introduced as patient had only few complaints. As articular condition got worse, Prednisone and Methotrexate were introduced with resolution of the ...

TY - JOUR. T1 - Peripheral sensorimotor and autonomic neuropathy associated with systemic lupus erythematosus. T2 - Clinical, pathological and immunological features. AU - Mccombe, P. A.. AU - Mcleod, J. G.. AU - Pollard, J. D.. AU - Guo, Y. P.. AU - Ingall, T. J.. PY - 1987/4. Y1 - 1987/4. N2 - The clinical features and pathological findings in the sural nerves are described of 7 patients with peripheral neuropathy; in 4 cases the criteria for diagnosis of systemic lupus erythematosus (SLE) were satisfied and in 3 other cases there was serological evidence of an undifferentiated connective tissue disease, most probably SLE. The peripheral neuropathy was of a chronic sensorimotor type with predominantly sensory features and gradual onset. In 2 cases the presentation was asymmetric. One patient had autonomic dysfunction. The pathological findings in the biopsied sural nerves were those of axonal degeneration and vasculitis. In 6 nerves there was increased expression of Class II (Ia) antigen ...

The AMBITION trial included a sizable number of patients with CTD-PAH, and within this SSc-PAH, and thus provides an opportunity to explore whether this population responds to initial combination therapy with ambrisentan and tadalafil compared with monotherapy of either agent. Initial combination therapy resulted in a reduction in the risk of clinical failure versus pooled monotherapy of 57% in patients with CTD-PAH and 56% in the subset of patients with SSc-PAH. While inferential statistics are not presented, the 95% CIs around the HR for both CTD-PAH and SSc-PAH were well within the bounds of 0-1. This result is further supported by the secondary endpoints, where we see a greater improvement in plasma NT-proBNP levels and 6MWD on combination therapy compared with monotherapy. The benefit of combination therapy over monotherapy is of similar magnitude to that observed in the whole trial population.. No new safety signals were identified in the CTD-PAH subset. However, some AEs appeared to be ...

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Background and objectives: The overlap between antineutrophil cytoplasmic antibody (ANCA) associated glomerulonephritis (ANCA-GN) and connective tissue diseases (CTD) has been reported mainly as case series in the literature. Frequency of this association, as well as presentation and outcomes are unknown. Materials and Methods: Patients from the Maine-Anjou ANCA-associated vasculitides (AAV) registry with ANCA-GN diagnosed between 01/01/2000 and 01/01/2018, ANCA positivity, and at least six months of follow-up, were included. Results: 106 out of 142 patients fulfilled the inclusion criteria and were analyzed. CTD was present at ANCA-GN diagnosis in 16 (15.1%) patients. The most common CTD were rheumatoid arthritis, Sjogren syndrome and systemic sclerosis. Compared to the control group, females were more represented in the CTD group (75%, p = 0.001). Renal presentation was comparable between groups, including the pathological analysis of renal biopsies. Patients of CTD group presented a higher rate of

NIH Rare Diseases : 50 arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). it is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). other features include: joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures) soft and stretchable skin long, slender fingers and toes (arachnodactyly) curvature of the spine (scoliosis) sunken chest (pectus excavatum) or protruding chest (pectus carinatum) protrusion of organs through gaps in muscles (hernias) elongation of the ...

Connective Tissue Disorder and Disability: undifferentiated or mixed connective tissue disease may qualify for disability if you are unable to work

Osteogenesis imperfecta (OI) is a systemic connective tissue disorder most often caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various...

Hereditary progressive arthro-ophthalmopathy definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now!

A diagnosis can be difficult to make because the three conditions (SLE, scleroderma, and polymyositis) that can be seen in MCTD usually occur one after the other over a long period of time, rather than at the same time. It may take several years to make an accurate diagnosis of MCTD.. There are four features that point to MCTD rather than another connective tissue disorder:. ...

In general, use of ACE inhibitors significantly reduced the development of proteinuria and/or biopsy-proven lupus nephritis and was associated with a decreased risk of disease activity [86]. Concomitant use of antimalarial drugs (chloroquine and hydroxychloroquine) at diagnosis of lupus nephritis reduced the risk of progression to end-stage renal failure and frequency of hypertension [87].. Specific treatment follows the class of lupus nephritis, which is defined by the revised ISN criteria. Class I and class II require no therapy directed at the kidney in consequence of good long-term renal outcome [88]. In contrast, high-dose steroid therapy rapidly resolved nephrotic syndrome in a majority of SLE patients with minimal change disease either in the absence or with underlying class II lupus nephritis based on renal biopsy findings [82, 83]. Immunosuppressive treatment is required in the management of class III (focal), class IV (diffuse) and class V (membranous nephropathy) lupus nephritis and ...

Heritable connective tissue diseases comprise a heterogeneous group of multisystemic disorders that are characterized by significant morbidity and mortality. These disorders do not merely result from defects in the amount or structure of one of the components of the extracellular matrix, as the extracellular matrix also serves other functions, including sequestration of cytokines, such as transforming growth factor beta (TGFβ). Indeed, disturbed TGFβ signaling was demonstrated in several heritable connective tissue diseases, including syndromic forms such as Marfan or Loeys-Dietz syndrome and non-syndromic presentations of thoracic aortic aneurysm/dissection. Because of these findings, new therapeutic targets have been unveiled, leading to the initiation of large clinical trials with angiotensin II type 1 receptor antagonists that also have an inhibiting effect on TGFβ signaling. Here, we present an overview of the clinical characteristics, the molecular findings, and the therapeutic ...

Clinical trial for SYSTEMIC LUPUS ERYTHEMATOSUS | Connective Tissue Diseases | Autoimmune disease | Dermatomyositis (Connective Tissue Disease) | Lupus Nephritis | CONNECTIVE TISSUE DISEASE | Glomerulonephritis , A Study of KZR-616 in Patients With SLE With and Without Lupus Nephritis

Results. In the group of patients with Raynauds phenomenon mean serum concentration of ET-1, TNF-α, PF-4, and vWF was significantly greater than in the healthy group. In contrast, serum IL-6 and IL-6sR concentrations did not differ significantly between the diseased and healthy groups. In a subgroup of Raynauds phenomenon patients showing particularly high concentration of serum ET-1 (twice as much as mean control concentration), the increase in IL-6, IL-6sR, vWF and c-ANCA concentration exhibited statistical significance in comparison with patients with lower serum ET-1 concentration. The vWF concentration exhibited positive correlation with time interval between the occurrence of clinical symptoms and serum ANA antibodies concentration. The increase in ET-1 synthesis in Raynauds phenomenon patients is dependent on the increase in IL-6 level and c-ANCA antibodies level ...

Reversible vasospasm of the extremities occurs as an isolated symptom in the absence of underlying disease (primary Raynaud phenomenon) or in association with other disorders (secondary Raynaud phenomenon). It has been reported that Raynaud phenomenon is associated with connective tissue diseases, but the frequency and types of diseases that eventually develop are not well established. Spencer-Green conducted a systematic literature search to assess the rates and predictors of transition to secondary disease after a primary diagnosis of Raynaud phenomenon.. A total of 639 patients with primary Raynaud phenomenon were identified from 10 studies. The average length of study follow-up was four years. The average duration of Raynaud phenomenon in the study subjects was 12.3 years. During follow-up, 12.6 percent (81 patients) developed a secondary disorder. Eighty of these cases were connective tissue diseases. Two thirds of the cases of connective tissue disease were attributed to systemic ...

The fact is that biology doesnt conform well to hard and fast rules. The immune system is particularly difficult this way; I used to tell my undergraduate immunology students that every rule they learned in class would have an exception somewhere. Since the immune system itself doesnt follow strict rules, it should come as no great surprise that autoimmune diseases dont either. I regard autoimmune diseases as being points on a continuum, rather than existing as discrete entities. These diseases all share in common the fact that the immune system has lost the ability to tell whether various tissues in the body are part of the body or whether they are invading germs. Specific autoimmune diseases are diagnosed depending on which parts of the body are being attacked, and by which parts of the immune system are doing the attacking ...

For a long time before diagnosis I began to lose strength, I had mentioned in passing at a number of doctors appointments but it was never the main reason for my visit. As I was living quite a sedentary lifestyle it was attributed to this. Once I changed jobs to a more computer based role I started to notice pain in my wrist and fingers. I visited the doctors and they suggested it was a form of repetitive strain injury, tendonitis. At the end of 2014 I was lucky enough to go on a 3 week holiday where I still experienced the pain in my joints and fatigue which could no longer be attributed to work. When I got back home I visited the doctor who booked me in for a blood test and referred me to a rheumatologist. The first one I saw was absolutely useless but the rheumatology nurse was still concerned with my results and escalated it to the consultants meeting. Following the meeting I was called back to the hospital by my current consultant who booked me in for a load of tests (blood work, CT scan, ...

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Connective tissue diseases include Sjogrens syndrome, rheumatoid arthritis, systemic lupus erythematosus, relapsing polychondritis, progressive systemic sclerosis, dermatomyositis and polymyositis, antiphospholipid syndrome, adult-onset Stills disease and mixed connective tissue disorders. These diseases are acquired immunologically, and are mediated inflammatory disorders characterized by abnormal function or structure of one or more of the elements of the connective tissue, namely collagen, elastin or the mucopolysaccharides. It is characterized by production of autoantibody and other immune-mediated dysfunction [3].. Mixed connective tissue disease (MCTD) is an autoimmune condition that affects almost all major organs in the body, most commonly affecting females (80%) between ages of 4-80 years old [4]. There are four sets of criterias used in defining MCTD, namely the Sharp, Alarcon-Segovia, Kakusawa, and Kahn criteria. Upon reevaluation of these criteria by Amigues et al. it is concluded ...

A rheumatology biorepository will be created to permit comparative analyses between the rheumatic diseases in order to increase the understanding of disease pathogenesis. Patients diagnosed with rheumatic diseases are invited to participate in this study. These rheumatic diseases include, but are not limited to: adult onset Stills disease, ankylosing spondylitis, psoriatic arthritis, reactive arthritis, antiphospholipid syndrome, systemic lupus erythematosus, Behcets disease, dermatomyositis, polymyositis, giant cell arteritis and other vasculitides, Lymes disease, mixed connective tissue disease, polymyalgia rheumatica, rheumatoid arthritis, sarcoidosis, systemic sclerosis (scleroderma), Sjogrens syndrome, and undifferentiated connective tissue disease. Healthy volunteers are also invited to participate in this study ...

Hello, my name is Althea. My fight like a girl story begins in 2006. I was in nursing school and realized I was unable to stand for a three hour lab class without sitting down and taking a break. I experienced pain in my joints, had a hard time concentrating, and had swelling in my hands and feet. I couldnt understand my weakness and exhaustion. I decided to see a doctor.. I first was diagnosed with fibromyalgia, then rheumatoid arthritis, then Raynauds disease, then interstitial granuloma dermatitis (so rare it had to be sent to three different labs and ended up in Texas!). In November of last year I experienced neurogenic bladder, which causes your bladder just to quit! I had had enough; I went to see a new rheumatologist who, after finding I had a positive ANA/RNP, diagnosed me with Mixed Connective Tissue Disease.. Its nice to finally have a name to give to this series of strange autoimmune nightmares. But I have realized that very few people know what MCTD is. It is very frustrating for ...

Scleroderma (especially CREST syndrome). Mixed connective tissue disease Systemic lupus erythematosus Rheumatoid arthritis Dermatomyositis. Which occurs more frequently, primary or secondary pulmonary hypertension?. Primary (unexplained) pulmonary hypertension is a rare disorder. Secondary pulmonary hypertension is seen considerably more often in practice.. What population group is most frequently affected by primary pulmonary hypertension?. Although primary pulmonary hypertension occurs in both sexes and virtually all age groups, it has a tendency to affect young females. The female-to-male predominance is 1.7:1, and the mean age is 36 years.. Is surgical therapy now an option for patients with pulmonary hypertension secondary to chronic recurrent thromboembolism?. Appropriate prevention of recurrent thromboembolism continues to be extremely important. In addition to this prevention, it is now possible to remove organized thrombus surgically from the proximal pulmonary arteries of patients with ...

Anti-MDA-5 antibody was first discovered in a Japanese population of amyopathic dermatomyositis patients in 2005. Autoantibodies were analysed from 298 patients with various connective tissue diseases, and anti-MDA-5 antibodies were detected in 8 of 42 patients with dermatomyositis. Those with anti-MDA-5 autoantibodies had significantly more rapidly progressive interstitial lung disease (ILD) when compared with patients without anti-MDA-5 autoantibodies.1. Another retrospective study found 10 out of 77 dermatomyositis patients were positive for the anti-MDA-5 antibody. This study found a characteristic cutaneous phenotype including skin ulceration, tender palmar papules or both. Hyperkeratosis of digital pulp, ulceration located on lateral nail folds, elbows, knees and Gottron papules were significantly associated with the disease. Patients with anti-MDA-5 antibodies also had an increased risk of hand swelling, arthritis/arthralgia and diffuse hair loss.2. Our patient did not present with ...

Examination of the hand and fingers can be helpful in screening a patient for Marfan Syndrome or a related connective tissue disorder such as Loeys-Dietz Syndrome.

Arthritis, Cell, Charge, Cilia, Connective Tissue, Connective Tissue Disease, Cystic Fibrosis, Dermatomyositis, Disease, Diseases, Fibrosis, Histiocytosis, Immotile Cilia Syndrome, Juvenile Rheumatoid Arthritis, Langerhans Cell Histiocytosis, Lung, Lung Disease, Mixed Connective Tissue Disease, Patients, Radiation

Osteogenesis Imperfecta or OI is also referred to as the Brittle Bone Disease. It is a genetic bone disorder which makes the bones fragile. Individuals who have osteogenesis imperfecta are born with the inability to make connective tissues or have defective connective tissues at birth. It is generally caused by a protein or type-I collagen […]. ...

Polymyalgia rheumatica (PMR). Sarcoidosis. Relapsing polychondritis. Anti-phospholipid antibody syndrome. Hypermobility syndrome. Osteoporosis. Pagets disease. We hope that this site will be useful for you.. Sincerely,. Dr. Larissa Lisnevskaia, Rheumatologist, Oshawa clinic, Oshawa. Valerie Rolf von den Baumen, Physiotherapist. DEFINITIONS:. Connective tissues diseases- connective tissue disease is any disease that affects the parts of the body that connect the structures of the body together. Connective tissues are made up of two proteins: collagen and elastin. Collagen is a protein found in the tendons, ligaments, skin, cornea, cartilage, bone, and blood vessels. Elastin is a stretchy protein that resembles a rubber band and is the major component of ligaments and skin. When a patient has a connective tissue disease, the collagen and elastin are inflamed. The proteins and the body parts they connect are harmed.. Inflammation - redness, swelling, and fever in any part of the body, often with ...

There is very little data available regarding health-related quality of life (HRQoL) in rare diseases, including idiopathic inflammatory myopathy (IIM). To look at this issue further, abstract 207 (Friday Poster session) sought to investigate the magnitude of impairment in HRQoL, measured using the Medical Outcomes Trust Short Form-36 (SF-36), and the clinical correlates of physical HRQoL in early IIM.. Leclair and her colleagues at McGill University studied a group of patients inthe Inflammatory Myopathy Study cohort. Thirty-eight IIM patients were enrolled, the majority women with a mean disease duration of 1.3 +/- 1.5 years. Subtypes of IIM included dermatomyositis (43%), clinically amyopathic dermatomyositis (19%), connective tissue disease-associated myositis (24%), polymyositis (11%) and cancer-associated myositis (3%). Subjects underwent standardized clinical histories, medical examinations, and self-administered questionnaires at time of entry. Multiple linear regression was used to ...

TY - JOUR. T1 - Uniphasic Blanching of the Fingers, Abnormal Capillaroscopy in Nonsymptomatic Digits, and Autoantibodies. T2 - Expanding Options to Increase the Level of Suspicion of Connective Tissue Diseases beyond the Classification of Raynauds Phenomenon. AU - Ingegnoli, Francesca. AU - Gualtierotti, Roberta. AU - Orenti, Annalisa. AU - Schioppo, Tommaso. AU - Marfia, Giovanni. AU - Campanella, Rolando. AU - Mastaglio, Claudio. AU - Meroni, Pier Luigi. AU - Boracchi, Patrizia. PY - 2015. Y1 - 2015. N2 - In patients with Raynauds phenomenon (RP), the role of medical history, capillaroscopy, and autoantibodies in order to provide an early diagnosis of connective tissue disease (CTD) were examined. 115 consecutive adults with uni-, bi-, or triphasic colour changes of the fingers were studied. RP was bilateral in 92.7% of patients. The middle finger was significantly more affected. A lack of association between fingers affected by RP and fingers with capillary abnormalities was observed OR = ...

Patients with interstitial lung disease (ILD) may have features of connective tissue disease (CTD), but lack findings diagnostic of a specific CTD. A recent European Respiratory Society/American Thoracic Society research statement proposed criteria for patients with interstitial pneumonia with autoimmune features (IPAF).. We applied IPAF criteria to patients with idiopathic interstitial pneumonia and undifferentiated CTD-ILD (UCTD). We then characterised the clinical, serological and morphological features of the IPAF cohort, compared outcomes to other ILD cohorts and validated individual IPAF domains using survival as an endpoint.. Of 422 patients, 144 met IPAF criteria. Mean age was 63.2 years with a slight female predominance. IPAF cohort survival was marginally better than patients with idiopathic pulmonary fibrosis, but worse than CTD-ILD. A non-usual interstitial pneumonia pattern was associated with improved survival, as was presence of the clinical domain. A modified IPAF cohort of those ...

Our study has demonstrated three novel findings in patients with CTD-FLD. First, honeycombing and traction bronchiectasis are important HRCT predictors of mortality and traction bronchiectasis is the more powerful of the two. Second, the clinical utility of this finding is enhanced by the superior level of interobserver agreement associated with an absent/present determination for traction bronchiectasis when compared with the same determination for honeycombing. Lastly, our results suggest that in CTD-FLD, patients with a histopathological diagnosis of UIP, but discordant radiological features, have a more favourable prognosis when compared with those with radiological and histopathological UIP.. Although there is a paucity of data on HRCT patterns, which predict prognosis in CTD-FLD, several studies have identified prognostic HRCT patterns in the fibrotic (non-CTD related) IIPs.4 ,5 ,7 ,26 ,27 Many of these have demonstrated that increasing reticulation, honeycombing or a combination of both ...

However suggestive the clinical and imaging presentation of PPFE is, other aetiologies of pleural thickening should be considered [31, 32], including: tuberculosis and tuberculosis pneumothorax treatment; aspergillosis [1, 33], although aspergillosis may complicate the course of established PPFE [33] as shown in one patient in [1]; other infections; connective tissue disease with rheumatoid arthritis lupus and ankylosing spondylitis [31]; ulcerative colitis [26]; haemothorax; a history of coronary artery bypass graft [34]; exposure to asbestos [35]; and rare or orphan pleural disease [32]. In most of these conditions, pleural thickening has a predilection to involve the lung bases or to predominate on one side, as opposed to PPFE. The differential diagnosis is usually resolved by: reviewing earlier imaging; searching for extrathoracic involvement that is typically absent in PPFE; appropriate laboratory tests for tuberculosis, aspergillosis, other infections and connective tissue diseases; and ...

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Two novel ATS patients were characterized at clinical and molecular level. Overall, four ATS unrelated families are known in Italy so far [[1, 6, 7, 9], this work]. Of the 17 SLC2A10 mutations so far identified, 9 were missense, 4 nonsense and 4 small out-of-frame deletions leading to premature termination codons. The c.1334delG and the c.1309G,A mutations are recurrent, as well as the c.243C,G mutation found in Qatari [11] and Middle Eastern families [4, 5, 8]. The mutations here identified underline the recurrence of known SLC2A10 mutations among ATS patients, suggesting that these mutations arose more than one time, or likely should be referred to a founder effect, as shown for the c.1334delG deletion, already found in ATS patients from European countries and showing identical haplotype [4, 5]. Among these, of note, both Italian families were from South Italy [[5], this work].. On the basis of previous observations and on the reports of clinical findings of patients carrying the same ...

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease affecting predominantly females. To discover additional genetic risk variants for SLE on the X chromosome, we performed a follow-up study of our previously published genome-wide association study (GWAS) data set in this study. Twelve single nucleotide polymorphisms (SNPs) within novel or unpublished loci with P-value | 1.00 × 10−02 were selected for genotype with a total of 2,442 cases and 2,798 controls(including 1,156 cases and 2,330 controls from central China, 1,012 cases and 335 controls from southern China and 274 cases and 133 controls from northern China) using Sequenom Massarry system. Associaton analyses were performed using logistic regression with sample region as a covariate through PLINK 1.07 software. Combined analysis in discovery and central validation dataset discovered a novel locus rs5914778 within LINC01420 associated with SLE at genome-wide significance (P = 1.00 × 10−08; odds ratio (OR) = 1.32). We

MONDAY, Oct. 26, 2020 (HealthDay News) -- When the new coronavirus pandemic first began, respiratory distress immediately became the hallmark of severe COVID-19 illness. News reports focused on the inability to breathe, low oxygen saturation levels and the alarming need for ventilators.. But six months later, experts are becoming increasingly concerned about a very different COVID-19 phenomenon, one that spares the lungs only to take direct aim at the patients heart, digestive tract and nervous system.. Called Multisystem Inflammatory Syndrome in Adults -- or MIS-A -- the condition was first spotted last spring in children and teens.. The symptoms are very similar among adults and children, explained Dr. Alisa Femia, director of both in-patient dermatology and autoimmune connective tissue disease at NYU Langone Dermatologic Surgery & Cosmetic Associates, in New York City.. Fever is characteristic, Femia noted, sometimes accompanied by a rash, skin discoloration and chapping, chest pain ...

We describe two patients who presented with mixed connective tissue disease. Both had antinuclear antibodies and antibodies to the extractable nuclear antigen U1RNP, and both were found to be seropositive for HTLV-1 infection. We found no evidence of HTLV-1 infection in 20 other patients known to have antibodies to U1RNP or in 36 British and West German patients with idiopathic adult polymyositis. In addition the serum from 20 anti-HTLV-1 positive patients did not contain antinuclear antibodies or antibodies to U1RNP. We conclude that rheumatological disease is associated with HTLV-1 through geographical rather than aetiological means.

Bio-Rad Helix EIA ANA Screen Bulk Kit,The ANA and ENA assays can be used to screen out patients negative for antinuclear antibodies, which are associated with various systemic rheumatic diseases such as Systemic lupus erythematosus (Lupus), Sjgrens syndrome, mixed connective tissue disease, progressive systemic sclerosis, scleroderma,,medicine,medical supply,medical supplies,medical product

Bio-Rad Helix EIA ENA Screen Bulk Kit,The ANA and ENA assays can be used to screen out patients negative for antinuclear antibodies, which are associated with various systemic rheumatic diseases such as Systemic lupus erythematosus (Lupus), Sjgrens syndrome, mixed connective tissue disease, progressive systemic sclerosis, scleroderma,,medicine,medical supply,medical supplies,medical product

Interstitial Lung Diseases (ILDs) also known as Diffuse Parenchymal Lung Disease (DPLD), include a large group of lung diseases characterized by various patterns of inflammation and fibrosis on high-resolution CT and in lung biopsy. ILD is one of the most serious pulmonary complications in Connective Tissue Diseases (CTDs), resulting in significant morbidity and mortality with an overall incidence estimated at 15%. The spectrum of ILD in CTD (ILD-CTD) includes all of the disease classified in the idiopathic interstitial pneumonias [1], but the prevalence differs between the CTD. ILD can be secondary to CTD, but can also be caused by the medications used to treat them. Several anti-inflammatory and biologic drugs have been associated with the development of ILD [1]. It is now recommended that all patients with CTD are checked for ILD. Early detection is very important for the initiation of therapy. Progressive exertional dyspnea is the most frequently symptom. However, its presence is not ...

The presence of a specific antibody is highly suggestive of the associated autoimmune disease. However, these antibodies are not completely specific for a particular disease; thus, results need to be interpreted in context of the clinical information and considering the following antibody prevalence.. Prevalence of Tier 1 Antibodies7-10. Double-stranded DNA (dsDNA) antibodies are present in 57% to 62% of systemic lupus erythematosus (SLE) cases, 10% to 43% of polymyositis, 11% to 20% of Sjögren syndrome, 8% of systemic sclerosis (scleroderma), and 0% to 8% of mixed connective tissue disease (MCTD).. Chromatin antibody is present in ,80% of MCTD cases, 37% to 73% of SLE, 14% of systemic sclerosis, 12% of Sjögren syndrome, and 8% of polymyositis.. Ribonucleoprotein (RNP) antibodies target RNP A and/or RNP 68kD proteins; antibodies to one or both are present in ,80% of MCTD cases, 22% to 48% of SLE, 14% of systemic sclerosis, 12% of Sjögren syndrome, and 8% of polymyositis.. Sm/RNP antibodies ...

Question - I have a past history of collagen vascular disease and leukopenia. Is swollen bulging eye and pain behind the ear a symptom of connective tissue disease and autoimmune thyroid ?. Ask a Doctor about Thyroid, Ask a Hematologist

Autosomal recessive inheritance has been described in some Stickler syndrome families. Individuals in these families were reported to have clinical findings similar to STL1, STL2, and Marshall syndrome. The cause has been documented to be mutations in collagen IX genes. Collagen IX is a heterotrimeric molecule composed of α1(IX), α2(IX) and α3(IX) chains encoded by the COL9A1, COL9A2 and COL9A3 genes. Analysis of the collagen IX genes is indicated in those instances of Stickler syndrome where autosomal recessive inheritance is suspected. Autosomal dominant mutations in the collagen IX genes cause some cases of multiple epiphyseal dysplasia.. Copy number variation (CNV) analysis of the Stickler syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.. Read less ...

Antinuclear antibodies are associated with rheumatic diseases including Systemic Lupus Erythematous (SLE), mixed connective tissue disease, Sjogrens syndrome, scleroderma, polymyositis, CREST syndrome, and neurologic SLE.

You say skin rolling. I say connective tissue manipulation. Tomato…tomahto; semantics aside, lets talk about what it is and what it has to do with pelvic pain.. Skin rolling or connective tissue manipulation as Ill be referring to it throughout this post, is a major component of our pelvic pain treatment technique here at PHRC. Thats because in our experience treating pelvic pain patients-both male and female-more often than not, when there is pelvic pain, there will be some level of connective tissue restriction.. Before we delve into the connection (wink) between connective tissue restriction and pelvic pain, lets first explore exactly what connective tissue is.. Connective tissue is one of the four general classes of biological tissues-the others being epithelial, muscular, and nervous tissues. The job of connective tissue is to support, connect, or separate different types of tissue and organs.. Bones, ligaments, tendons, and cartilage are all considered connective tissue. ...

Background Depression and anxiety adversely affects outcomes in systemic lupus erythematosus (SLE) and healthcare utilization is high for pediatric SLE. We aimed to characterize the prevalence of depression and anxiety in pediatric SLE, and their association with healthcare utilization. Methods We conducted a cross-sectional analysis of pediatric SLE and mixed connective tissue disease (MCTD) subjects and healthy controls aged 8 years and above. We used the Patient Health Questionnaire 9 (PHQ-9) and the Screen for Childhood Anxiety Related Disorders (SCARED) to identify depression, suicidal ideation and anxiety symptoms, respectively. We compared symptom prevalence in SLE/MCTD and healthy subjects using logistic regression. For SLE/MCTD subjects, we calculated the rate of annual outpatient visits [rheumatology/nephrology, primary care provider (PCP) and emergency department], hospitalizations and rheumatology/nephrology telephone consultations in the preceding year. We compared these outcomes in

Purple and Blue Awareness Ribbon Causes & Meanings What causes are associated with the purple and blue awareness pin? * Adult-Onset Stills Disease * Alternating Hemiplegia * Childhood Stroke * Cult Awareness * Mixed Connective Tissue Disease (MCTD) * Pediatric Rheumatic Diseases * Pediatric Stroke * Preeclampsia * Rheumatoid Arthritis * Rheumatoid Disease

Pulmonary hypertension can occur by itself or may be related to different rheumatologic conditions, most importantly scleroderma, lupus, and mixed connective tissue disease (MCTD). Our rheumatologists routinely partner with the team of physicians and allied health professionals of the Pulmonary Hypertension Program, including cardiologists and pulmonologists, to help detect rheumatologic disorders in patients presenting with PAH, and to help treat and monitor patients who have PAH related to a rheumatologic disorder. Clinical Services ...

Bosentan treatment for pulmonary arterial hypertension related to connective tissue disease: a subgroup analysis of the pivotal clinical trials and their open‐ ... Bosentan treatment for pulmonary arterial hypertension related to connective ... ,中国医师协会免疫吸附学术委员会

Marionette lines and Jawline; Dermal Fillers; Wrinkle Contact Dr Tandra Paul for more information about Marionette lines and Jawline treatments using the contact SIGNATURE EYESHADOW DUO Estee Lauder . Hemifacial spasm (HFS) is characterized by intermittent involuntary twitching of the muscles in one side of the face which can last from a few seconds to several How to make your own homemade natural face cream.. Over the counter skin lightening creams for acne scars that are packaged with robust ingredients can also be of much help. The Botox Brow Lift-Watch Dr Rajani inject Artefill-Dr Rajani Microcannula injection-Portland Botox-Watch Dr Rajani inject the frown lines Mixed Connective Tissue Disease? Mark Wener MD Rheumatology Division Medicine. non-rigid image registration and segmentation of voxel time courses. Dark Circles - Ugly dark circles under your eyes can take away from the beauty of your face.. I have natuarlly light skin but of course as a student it is really inevitable LAC Taut ...

If bones are the steel frame of the body and cartilage forms the rubber shock absorbers between your bones, what name do we give for all the nuts, bolts, stitches, pulleys, cords, housings, laces, bindings, springs and bungees that connect our parts together?. These tough, durable attachment structures are provided by the dense connective tissues of the body. Like connective tissues in general, these tissues have few living cells (here, fibroblasts, shown traveling among the fibers). But in contrast to other connective tissues, the word dense here refers to an especially high density of collagen fibers. Collagen fibers provide a strong steel cable that is difficult to tear apart, and thus is used to provide tension resistance in body tissues. Collagen is such an important structural component that it makes up 25% of body protein - your most abundant protein of all.. There are three types of dense connective tissue:. ...

These are notes taken from the site: http://www.biologyreference.com/ Connective Tissue The human body is composed of just four basic kinds of tissue: nervous, muscular, epithelial, and connective tissue Connective tissue is the most abundant, widely distributed, and varied type. It includes fibrous tissues, fat, cartilage, bone, bone marrow, and blood. As the name implies, connective tissues…

Connective Tissue General structure of connective tissue Overview of connective tissue matrix Types of connective tissue Connective tissue composed of ground substance and protein fibers Mostly fluid connective tissue Source for information on Connective Tissue: The Gale Encyclopedia of Science dictionary.

INTRODUCTION Organizing pneumonia (OP) is a type of diffuse interstitial lung disease characterized by a specific histopathologic pattern of response to lung injury. When the etiology of the injury is unknown and in the absence of inflammatory or connective tissue disease, this entity is termed cryptogenic organizing pneumonia (COP) or primary organizing pneumonia (POP). Disease states in which the etiology of underlying injury is known is termed secondary organizing pneumonia (SOP). Causes of SOP include drug toxicity, chronic heart or renal failure, rheumatic disease, collagen vascular disease, infection, immunodeficiency, autoimmune disease, and interstitial lung disease. OP is characterized by the accumulation of inflammatory cells, fibroblasts, and myofibroblasts in the lumens of bronchioles and alveoli creating plugs of debris. This leads to alveolar epithelial injury, which is followed by leakage of plasma cells and the recruitment of fibroblasts and fibrin within the alveolar lumen. This

Autoimmune Myositis - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.

Granulomatosis with Polyangiitis (GPA) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional Version.

Supports Joint and Connective Tissue Health Glucosamine and Chondroitin are naturally occurring compounds thought crucial for joint health, flexibility, and function, as well as the formation of bones, tendons, ligaments, and other connective tissue. Supports Cartilage Repair Glucosamine hydrochloride is thought crucial for helping to maintain joint cushioning, flexibility, function, and integrity. Glucosamine hydrochloride is also thought to be important in the formation and structure of bones, tendons, ligaments, and other connective tissue, stimulating cartilage production, natural joint repair, and reduction of joint inflammation. MSM (methylsulfonymethane) is a naturally occurring sulfur compound supporting the integrity of healthy mucous membranes, and is necessary for the production of collagen and keratin, the primary proteins in hair, skin, and nails. Collagen is the major structural component of articular cartilage in joints. Supports Respiratory Function MSM is primarily used for

Amicus Therapeutics: Offering Therapies to Orphan and Rare Diseases. Amicus Therapeutics is an American biopharmaceutical company located in Cranbury, New Jersey. In 2007, Amicus Therapeutic went public under the NASDAQ trading symbol FOLD. Before Amicus went public, several investment capital corporations such as Canaan Partners, New Enterprise Associates, and Radius Ventures funded it.. Amicus Therapeutics focuses on orphan and rare diseases such as Lysosomal Storage Disorder (LSD), genomic connective tissue disorder, Pompe, and Fabry disease. The company is at the pole position of innovative treatments to treat these devastating diseases. The companys primary product, Migalastat, is a modified medicine in its advanced stages of development to treat patients suffering from Fabry disease based on their genomic diagnosis. Another product candidate at its late-stage advancement is the SD-101, which should handle rare genomic connective tissue disorder, Epidermolysis Bullosa (EB). Visit ...

All patients in the ONTT had blood testing to exclude collagen vascular disease (antinuclear antibody), syphilis (FTA-ABS), and a chest x-ray to detect sarcoidosis. A lumbar puncture was optional and was performed in 141 patients. Antinuclear antibody was positive in a titer 1:320 or greater in 3% of patients. Of these patients, only one developed a connective tissue disease in the first two years of follow up. FTA-ABS was positive in 1.3% of the patients, and none were judged to have syphilis. A chest x-ray did not SHOW evidence of sarcoidosis in any patients. CSF analysis never yielded unsuspected information. Based on these results, chest x-ray, blood tests, and lumbar puncture are deemed not to be necessary in evaluating patients with typical clinical features of optic neuritis ...

Systemic sclerosis (also known as scleroderma) is a rare multi-system connective tissue disease. It is characterised by excessive collagen deposition (leading to fibrosis), vascular abnormality and immune dysfunction.. Raynauds phenomenon (episodic colour changes of the fingers, usually in response to cold exposure) is very common. It is a key feature of systemic sclerosis but, for most people, it occurs in the absence of any underlying condition in which case it is termed primary Raynauds phenomenon.. ...