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At least 19 recordsLinked to original sources
PubMed2026

Distinct Effects of Complement C4A and C4B Copy Numbers in Systemic Sclerosis Serological and Clinical Subtypes.

OBJECTIVE: Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. The variable copy number (CN) of C4 genes and retroviral human endogenous retrovirus K (HERV-K) element influence its function. Given the relationship of C4 CN with systemic sclerosis (SSc) risk, we assessed associations with SSc clinical and serologic subtypes. METHODS: We compared imputed C4 CNs across SSc subgroups (4,049 anticentromere positive [ACA+]; 2,200 anti-topoisomerase I [ATA+]; 577 anti-RNA polymerase [ARA+]; 1,078 triple-negative [TN] patients; 6,295 limited cutaneous SSc [lcSSc]; and 2,946 diffuse cutaneous SSc [dcSSc]) and 17,991 controls. We evaluated associations with SSc subtypes, identifying C4-independent HLA alleles. RESULTS: Lower C4 CN and higher HERV-K CN were associated with increased risk in all SSc subgroups. ATA+ patients showed the strongest association, particularly with C4A (odds ratio = 1.88), and differences in C4A CN association were more pronounced between autoantibody subgroups (ATA+ vs ACA+, P = 4 × 10-11) than between clinical subgroups (dcSSc vs lcSSc, P = 1 × 10-4). In ACA+ patients, only low C4B CN showed a significant association to SSc risk (P = 1.23 × 10-5). We also observed sex-biased associations: dcSSc, ATA+, and ARA+ male patients showed stronger effects for C4A and ACA+ and lcSSc female patients for C4B. Finally, our results suggest that the HLA alleles associated with SSc subgroups are independent of C4 CN. CONCLUSION: This study highlights distinct genetic contributions of C4A and C4B in SSc subtypes susceptibility. Our findings suggest that lower C4 CNs, particularly C4A, increase the risk of the severe dcSSc subtype, potentially through a mechanism involving immune complex clearance.

Humans↗
PubMed1977

[Idiopathic and sclerodermic facial hemiatrophy with generalized myopathy. Clinical, electromyographic and histologic examinations of six patients].

Six patients with facial hemiatrophy (H.f) were thoroughly examined by clinical and laboratory investigations. Two were found to have idiopathic and four facial hemiatrophy due to different types of localized scleroderma. In all cases a generalized myopathy was present, demonstrated by electromyographical, histological, and biochemical means. In none of these cases a hereditary or neurological cause for the facial hemiatrophy was found. However, in two cases autoantibodies against nuclei and muscle were repeatedly obtained. No prolongation of sensory or pain chronaxy occurred in either the patients with sclerodermal or idiopathic facial hemiatrophy. These observations suggest that facial hemiatrophy can originate (a) in a localized scleroderma in the involved part of the face, (b) in an ipsilateral "sclérodermie en coup de sabre", or (c) in the coexistence of both. There is a close pathological and physiological correlation between idiopathic and sclerodermal facial hemiatrophy. In both forms of facial hemiatrophy the disease involves skeletal muscle tissue systematically. This myopathy is similar to that of progressive scleroderma, far exceeding the limited muscular involvement of localized scleroderma. Sclerodermal facial hemiatrophy can be associated with autoimmune phenomena.

Adipose Tissue↗
PubMed1979

Scleroderma: increased biosynthesis of triple-helical type I and type III procollagens associated with unaltered expression of collagenase by skin fibroblasts in culture.

To assess potential abnormalities in collagen metabolism in systemic scleroderma, skin fibroblast lines from patients with this disease were established and compared to control cell lines derived from healthy subjects. For studies on the biosynthesis of procollagen, the cells were incubated with [(14)C]proline in a medium supplemented with ascorbic acid and beta-aminopropionitrile, and the synthesis of nondialyzable [(14)C]hydroxyproline, in relation to DNA or cell protein, was taken as an index of procollagen formation. Five of eight scleroderma fibroblast cell lines demonstrated procollagen biosynthesis rates significantly higher than the controls, and the mean rate of procollagen synthesis by scleroderma fibroblasts was about twice that of the control cells. Control experiments demonstrated that the specific activity of the intracellular free proline was not different in scleroderma and control fibroblasts, and the mean population doubling times of the scleroderma and the control fibroblast cell lines were the same. The relative synthesis of the genetically distinct procollagens was examined by isolating type I and type III procollagens from the cell culture medium using DEAE-cellulose chromatography. The ratios of type I/III procollagens in scleroderma cell lines did not differ from the controls. The helical stability of the collagenous portion of type I and type III procollagens, estimated by the resistance of (14)C-collagen to limited proteolytic digestion with pepsin under nondenaturing conditions, was the same in both scleroderma and control cultures. The capacity of the cells to synthesize enzymatically active and immunologically reacting collagenase was also studied; no marked differences in these parameters could be observed. The results suggest that cultured skin fibroblasts from patients with scleroderma demonstrate a metabolic abnormality expressed as increased synthesis of type I and type III procollagens in a normal ratio. This abnormality may play a role in the excessive accumulation of collagen in the skin and other organs affected in scleroderma.

Adolescent↗
PubMed1976

Peritoneal clearances in scleroderma and diabetes mellitus: effects of intraperitioneal isoproterenol.

Reduced peritoneal clearances of creatinine and urate were demonstrated repeatedly in a patient with scleroderma and a patient with diabetes mellitus. Urea clearances were not significantly different from usual values. The findings suggest decreased peritoneal membrane permeability and/or area (if urea clearance is flow limited). Clearances increased to usual values with intraperitioneal isoproterenol in the patient with diabetes. There was no effect of isoproterenol in the patient with scleroderma.

Adult↗
PubMed1976

Cutaneous antigen-stimulating lymphokine production by lymphocytes of patients with progressive systemic sclerosis (scleroderma).

Cell-mediated immunity to skin extracts was studied by the macrophage migration inhibition test, lymphocyte transformation, and direct cytotoxicity to skin fibroblasts, in normal individuals and patients with progressive systemic sclerosis. The latter included 18 individuals with diffuse scleroderma and 12 with the CREST syndrome, a variant form of systemic sclerosis in which there is more limited involvement of the skin. Controls consisted of 13 patients with other connective tissue diseases and 16 normal individuals. Phosphate-buffered saline and 3 M KCl extracts of both normal and sclerodermatous skin were used as antigens. No evidence of lymphocyte reactivity was found by the lymphocyte transformation and direct cytotoxicity test procedures. However, the lymphocytes of patients with diffuse scleroderma did respond to extracts of both normal and sclerodermatous skin in the migration inhibition assay. 10 of 16 patients (62.5%) had migration indices below 2 SD of the normal range, 1 of 10 CREST patients and 1 of 13 patients with other connective tissue diseases showed similar reactivity. Antisera specific for immunoglobulin-bearing lymphocytes (B lymphocytes) and T lymphocytes were used to characterize the lymphocytes found in skin biopsies of patients with diffuse scleroderma. T lymphocytes made up the majority of lymphocytes in the skin infiltrates. These findings suggest that lymphocytes sensitized to skin extracts are present in patients with diffuse scleroderma. The cell-mediated immune reaction to skin antigens may be a factor in the pathogenesis of diffuse scleroderma.

Adolescent↗
PubMed1979

Chronic graft versus host disease: a syndrome of disordered immunity.

A chronic, debilitating syndrome related to graft-versus-host disease (GVHD) has been recognized in long-term survivors following allogeneic bone marrow transplantation. In six of 20 marrow graft recipients who survived for more than one year after receiving a transplant, this complication developed; they were studied to better define the syndrome. There was no association between the sex of either donor or recipient, HLA type, blood group, conditioning regimen or marrow cell dose and subsequent development of chronic GVHD. All six patients had mild to moderate manifestations of acute GVHD following prompt engraftment. Chronic GVHD was characterized in each patient by progression to scleroderma-like skin involvement with hyperkeratosis, reticular hyperpigmentation, atrophy with ulceration and fibrosis with limitation of joint movement. A sicca syndrome was prominent in five patients. Four patients had idiopathic interstitial pneumonitis. Infectious complications were frequent, and DNA viral infections were prominent. Autoimmune hemolytic anemia was present in three patients, and one patient had antinuclear antibody (ANA). A spectrum of immune abnormalities was observed including hypergammaglobulinemia, immunoglobulin M (IgM) paraprotein, elevated circulating immune complexes, plasma cell hyperplasia, lymphocytotoxic antibodies and autoantibodies to autologous or donor lymphocytes. Despite clinical similarity to collagen vascular diseases, none of these patients had anti-DNA antibodies or antibodies to smooth muscle, thyroid or extractable nuclear antigens. In one patient, a skin graft from the marrow donor remained healthy despite progressive involvement in recipient skin, whereas unrelated skin grafts were rejected. Immunosuppressive therapy and plasmapheresis have not been effective. Four patients have died (median survival 458 days from transplantation). Chronic GVHD appears to be a syndrome of disordered immune regulation features of immunodeficiency and autoimmunity.

Adolescent↗
PubMed1979

Enzymes of collagen biosynthesis in skin and serum and dermatological diseases. II. Serum enzymes.

Serum immunoreactive prolyl hydroxylase protein and galactosylhydroxylysyl glucosyltransferase activity were measured in 54 patients wtih various dermatological diseases and compared with corresponding values in 32 control subjects. These serum enzymes were at the control level in the great majority of the patients, and no correlation was found between serum and skin enzymes, except for one weak correlation in lichen ruber planus. Some patients with psoriasis, lichen ruber planus, keloids, erythema nodosum or chronic discoid lupus erythematosus, however, did have at least one of these enzymes elevated in the serum, and a significant correlation (P less than 0.01) between the two enzymes was found in the total disease material. Thus it does seem that diseases limited only to the skin can sometimes raise these serum enzyme levels. The mean levels of serum immunoreactive prolyl hydroxylase and galactosylhydroxylysyl glucosyltransferase activity were significantly elevated (P less than 0.001) in active systemic connective tissue diseases such as systemic lupus erythematosus, scleroderma or dermatomyositis compared with the controls, and 4 out of 7 values for immunoreactive prolyl hydroxylase and 3 out of 7 for galactosylhydroxylysyl glucosyltransferase activity were above the 95% confidence limit of the controls. Since the levels of the skin enzymes were not elevated in most of these patients, however, the main sources for the elevated serum enzymes were probably tissues other than the skin.

Adolescent↗
PubMed1979

[D-Penacillamine. From constituent of penicillins to significant drug].

D-Penicillamine is used against a variety of diseases. For many years it has been successful in treating Wilson's disease, cystinuria and heavy-metal poisonings. It also proved to be effective against rheumatoid arthritis, scleroderma, chronic active hepatitis, pulmonary fibrosis and multiple sclerosis. However, the use of D-penicillamine is still limited owing to the frequent occurrence of considerable, though generally reversible, side effects. This article deals with the history of D-penicillamine as well as the methods of its synthesis, its pharmacokinetics, effects and side effects. In addition, the significance of the stereo isomeric L-penicillamine is discussed.

Arthritis, Rheumatoid↗
PubMed1977

[Neurologic and psychiatric syndromes of rare para-rheumatic diseases (author's transl)].

In Wegener's granulomatosis peripheral nerves are more often involved than central nervous structures; functional psychoses are secondary e.g. to renal complications. Neurologic-psychiatric symptoms are varied and result from local spread from the upper respiratory tract with separate granulomata and vasculitis. Striped muscle is involved in about 10% of cases. Specific vegetative disturbances of function do not appear to occur. This is also true for Granuloma gangrenescens. Its multicentric inflammatory, ulcerating and necrotic foci involve midline structures and often start at the anterior neuroporus. Becet's disease, however, shows clear characteristic localisation, symmetry of various dermatologic phenomena in the extremities and the almost obligatory involvement of mouth, stomach and the genitals and their surroundings. This one may assume to be due to a mesencephalic parasympathicotonic reaction as the basis for the occurrence of perioral and acro-syndroms after Fischer-Brügge and Sunder-plassmann. Some similarity with the localization of other collagenous diseases is evident. The anterior basal ganglia represent a favored focus where e.g. initial, imcomplete and readily recurrent processes, possibly of an exsudative nature, may start off neurovascular changes of limited areas without necessarily producing clinically detectable signs of the usual neurologic-psychiatric type. In Behcet's disease, rather as in scleroderma, the nervous system appears to be decisively involved. About one third of the cases show changes in the nervous system ("Neuro-Behcet" in the usual sense) with little peripheral signs and rare myositis. But Behcet's disease may also-like erythematodes or progressive sclerodermia-simulate a disseminated encephalomyelitis. The pathogenetic factors of Reiter's syndrome appear to be closely related. The relatively constant main symptoms are also localized and permit the conclusion that they depend on vasomotorically linked innervation of the first bulbar segment. The preference for distal localization of bilateral skin involvement hints - as in Behcet's disease at hypothalamic distribution; main localization in midface and the oral mucosa, in eyes and the ends of the midline and, often, also involvement of certain midline and, often, also involvement of certain favored joints permit the assumption of mutural relations between the cranial and sacral fields of incidence of the trophotrop-endophylactic system which is linked via the parasympathic with periphery. According to present knowledge the bundles of Schütz and, further, Krüke may be the pathways. Where pelvic processes predominate viscero-cutaneous or cuto-visceral reflexes may - as in dermatomyositis - be involved. E.g visceroreflectory changes explain coincidences of signs in similar or adjacent segments of the urogenital system, the rectum and certain joints. Psychose on a physical basis are rare. As in other collagen diseases the spinal cord is rarely involved, but "multiple sclerosis" may be simulated...

Behcet Syndrome↗
PubMed1977

Hand images: normal and abnormal.

Supplemental hand scintigrams with abnormal features were obtained from 29% of patients (134 of 463) who were referred for routine minified bone imaging with 99mTc-Sn-polyphosphate. A wide spectrum of normal activity distribution ranging from well-defined to "wash-out" images is described in 329 cases (71%). In the abnormal images of the joints and individual bones, the changes--although not always characteristic of some particular disease--may often suggest a diagnosis and/or its pathophysiologic status. The joints with heavy uptake correlate well with the presence of active clinical findings, e.g., in the arthritides. The bone feature associated with metabolic disease, especially when full-blown, may be fairly characteristic. A potential application is in the assessment of digital circulation, particularly in obliterative vascular diseases such as scleroderma, Buerger's disease, chronic neuropathies, and possibly other collagen or vascular diseases that involve the hands. Interesting images, probably of somewhat limited usefulness, are observed in some congenital anomalies, fractures, camptodactyly, contracture deformities, unilateral lymphedema after mastectomy, etc.

Bone Diseases↗
PubMed1978

[Phoniatric and laryngological aspects of systemic scleroderma (author's transl)].

Organs which contain collagen can have connective tissue new growth in systemic scleroderma. The occurrence of scleroderma of the larynx and organs of speech is rare. The disease develops in the mucous membrane in three stages: oedema; infiltration and induration; and atrophy. The oedema stage is generally the shortest. Three patients with systemic scleroderma with involvement of larynx and organs of speech have been seen. In one is described (graphically, sonographically and with stroboscopy) the progress of the disease from an initial severe hoarseness to later resolution of the oedema. In another patient involvement of the soft palate produced rhinolalia. In spite of the limitation of tongue movement in 2 patients there was no disorder of articulation.

Aged↗
PubMed1976

Ganglion cells in achalasia of the cardia.

The histopathology of 40 cases of achalasia of the cardia, 6 cases of oesophageal spasm-incoordination and 4 cases of scleroderma was examined. Three cases of carcinoma and 6 cases of reflux oesophagitis were used as a control group. A nearly complete loss of myenteric ganglion cells was found in the upper thickened segment in achalasia. Some surviving ganglion cells were found in the lower segments in half the cases of achalasia; in two cases counts were normal in this segment. The occurrence of neuronal chromatolysis in 9 biopsies of achalasia supports the view that an active disease process was involved. The preganglionic parasympathetic fibres in two cases of achalasia were normal in appearance and number; this somewhat limited evidence tends to count against a primary disorder of the preganglionic neurone in this condition. The 6 cases of oesophageal spasm-incoordination showed similar neuronal loss to that in the lower segment in achalasia. Possibly "oesophageal spasm" represent an early stage or incomplete expression of achalasia. One cases of scleroderma showed loss of ganglion cells, but the myenteric plexus was here involved by the disease process. None of the 9 cases in the control group showed any loss of ganglion cells or chromatolysis. Acute and chronic inflammation was not convincingly associated with loss of ganglion cells in either achalasia or oesophageal spasm.

Autonomic Fibers, Preganglionic↗
PubMed1978

Taste dysfunction and changes in zinc and copper metabolism during penicillamine therapy for generalized scleroderma.

The taste function and the zinc and copper levels in serum and urine were followed for up tp 16 weeks in ten patients who were started on penicillamine therapy for generalized scleroderma (9 patients) and rheumatoid arthritis (one patient). During therapy the serum zinc concentration remained unchanged, whereas the serum copper concentration increased significantly during the first 4--5 weeks and then tended to decrease. Urinary copper rose significantly and remained considerably above the upper normal limit throughout the study. Six of the patients complained after about 4--5 weeks of a decreased taste function, which was gradually restored whether the medication was stopped or continued. The alterations in the taste acuity for sweet, salt, sour, and bitter significantly paralleled the variations in urinary copper before as well as during therapy. Thus, the patients who showed the most pronounced loss of taste, had a lower urinary copper output than those whose taste acuity was less disturbed.

Adult↗
PubMed2026

Imaging techniques for assessing the hand in systemic sclerosis: a systematic review.

BACKGROUND: Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease frequently associated with hand involvement, leading to significant functional impairment. Imaging techniques provide unique opportunities to visualize and quantify structural and functional abnormalities of the hand, supporting diagnosis, monitoring, and treatment evaluation. This systematic review summarizes the imaging techniques used in SSc. METHODS: A systematic search of PubMed and Embase was conducted. Eligible studies included original research articles in English that applied or evaluated imaging techniques of the hands in SSc, published after 2000. Ultrasound and nailfold capillaroscopy were excluded, given their established use. Screening was performed independently by two authors. Findings were synthesized by clinical manifestations, study quality was assessed using the QUADAS-2 tool. RESULTS: Sixty-one studies met the inclusion criteria. In total, 25 distinct imaging techniques were identified, enabling assessment of various hand structures, including vascular involvement, inflammation, fibrosis, calcifications, erosions, and bone marrow edema. Vascular imaging was most extensively studied, particularly in the context of Raynaud's phenomenon and digital ischemia, with multiple techniques demonstrating impaired perfusion and altered thermoregulatory responses. MRI consistently detected subclinical inflammatory and erosive changes of joints and soft tissues,. CT-based techniques provided detailed assessment of calcinosis cutis, while optical and photoacoustic methods showed promise for quantifying skin fibrosis. CONCLUSION: Imaging techniques provide valuable, complementary insights into hand involvement in SSc, often revealing subclinical disease. Despite promising results, limited standardization and longitudinal validation currently restrict clinical implementation. Future studies should focus on harmonizing protocols and validating against clinically meaningful outcomes.

Humans↗
PubMed1975

[Xero-radiography of the thorax(author's transl)].

In over 150 patients, comparative chest examinations were carried out using films and xerography. The following results were obtained: Using xerography, image quality depends significantly on the size and shape of the imaging structure and on its marginal sharpness. Using a sectional technique and xerography, pulmonary vessels, bronchi, hilar structures and various linear changes are more clearly demonstrated than with ordinary film. Xerography has no advantage in showing changes occupying a large area. Routine use of xerography for chest examinations is limited by the size of the selenium plates and the higher radiation dose required.

Bone Neoplasms↗
PubMed1977

Penicillamine therapy in systemic sclerosis.

Twenty-two patients with progressive systemic sclerosis were treated with D-penicillamine in doses ranging up to 1250 mg/day for periods varying between a few months and four years. Side-effects occurred in 7 patients, necessitating drug withdrawal in 2. Cutaneous benefit occurred in 15 patients, but owing to side-effects from the drug, relapses, and development, persistence or advancement of visceral complications, an overall good result only occurred in 5. Seven patients showed improvements in joint function, but only 3 were regarded as having an overall good result. Peripheral vascular disease and visceral involvement seemed not to be influenced by D-penicillamine and sometimes appeared or advanced during treatment. Six patients died from visceral manifestations of systemic sclerosis and one from another cause. D-penicillamine is of limited value for the cutaneous features of progressive systemic sclerosis, but probably of no value for the vascular and visceral manifestations of the disease.

Adult↗