Allameh, Seyyed Farshad; Anari, Akram Ghadiri; Gharabaghi, Mehrnaz Asadi; Nakhjavani, Manouchehr
Tumoral calcinosis is a rare disease characterised by deposition of calcified mass near the joints. The pathogenesis of this disease is not exactly defined. A disorder of calcium and inorganic phosphate metabolism may play a role. Here, we report a case of 19-year-old girl who had both cryptogenic cirrhosis and idiopathic tumoral calcinosis. To our knowledge, there is few report of such concurrence.
Shrinath D.P Kamath
Full Text Available A 23-year-old lady presented with a slowly progressing firm mass on the nasal dorsum since 8 months. Her biochemical, haematological and collagen vascular disease screening tests were normal. Radiographs of the nasal bones showed a subcutaneous calcifying lesion with no evidence of nasal bone erosion. A diagnosis of idiopathic calcinosis cutis (ICC was made. The mass was excised and soft tissue defect was augmented with silicone prosthesis. The histopathology with the haematoxylin and eosin staining and von Kossa stain confirmed the diagnosis of calcinosis cutis. This is an unusual presentation of ICC involving the nasal dorsum requiring surgery and nasal dorsal augmentation with silicone prosthesis.
Full Text Available A 50-year-old woman presented with recurrent calcified mass in the left gluteal region. The clinical, radiological, and biochemical profile confirmed the diagnosis of tumoral calcinosis. She also had associated vitamin D deficiency. The patient underwent surgical removal of the mass to relieve the sciatic nerve compression and was managed with acetazolamide, calcium carbonate, and aluminium hydroxide gel with which she showed significant improve-ment. The management implications and effect of vitamin D deficiency on phosphate metabolism in the setting of tumoral calcinosis is discussed.
Sahu, Srimanta Kumar; Gupta, Nikhil; Vohra, Suruchi
Acne vulgaris is a common dermatological disease commonly affecting the adolescent and young adults. It is characterized by the presence of pleomorphic skin lesions such as comadones, papules, pustules, and nodules. The common complications are postacne hyperpigmentation and scarring causing psychological impact. Calcinosis cutis is the pathologic deposition of insoluble calcium salt in the skin and subcutaneous tissue. Calcinosis cutis following acne vulgaris is rarely reported in the literature. We report a case of calcinosis cutis in acne vulgaris in a 55-year-old man.
Robertson, L.; Marshall, R.; Hickling, P.
Methods: Patients with lcSSc who had cutaneous calcinosis causing pain or ulceration, or both, were prescribed minocycline 50 or 100 mg daily regularly in an open label manner between November 1994 and April 2000. At routine clinical follow up the appearance of the calcinosis deposits was assessed clinically and radiographically, and the patients' assessment of the degree of discomfort, size, and frequency of ulceration was recorded. Demographic data, including disease duration, clinical feat...
Chisoni Mumba; David Squarre; Maxwel Mwase; John Yabe; Tomoyuki Shibahara
This article reports a first case of calcinosis circumscripta in a captive African cheetah (Acinonyx jubatus). Histopathology demonstrated well defined multiple cystic structures containing granular, dark basophilic materials with peripheral granulomatous reaction, characterized by presence of multinucleated giant cells surrounded by a varying amounts of fibrous connective tissues. Special staining with von Kossa revealed black stained deposits confirming the presence of calcium salts.
Full Text Available Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the efficacy of bisphosphonates for the management of tumoral calcinosis on optimized medical treatment. Settings and Design: The study was done in the endocrine department of a tertiary care hospital in South India. We prospectively studied two patients with recurrent tumoral calcinosis who had failed therapy with phosphate lowering measures. Materials and Methods: After informed consent, we treated both patients with standard age adjusted doses of bisphosphonates for 18 months. The response was assessed by X ray and whole body 99mTc-methylene diphosphonate bone scan at the beginning of therapy and at the end of 1 year. We also estimated serum phosphate levels and urinary phosphate to document serial changes. Results: Two patients (aged 19 and 5 years with recurrent idiopathic hyperphosphatemic tumoral calcinosis, following surgery were studied. Both patients had failed therapy with conventional medical management − low phosphate diet and phosphate binders. They had restriction of joint mobility. Both were given standard doses of oral alendronate and parenteral pamidronate respectively for more than a year, along with phosphate lowering measures. At the end of 1 year, one of the patients had more than 95% and 90% reduction in the size of the lesions in right and left shoulder joints respectively with total improvement in range of motion. In contrast, the other patient (5-year-old had shown no improvement, despite continuing to maintain normophosphatemia following treatment. Conclusions: Bisphosphonate therapy in tumoral calcinosis is associated with lesion resolution and may be used as a viable alternative to surgery, especially in cases with multicentric recurrence or treatment failure to other
Iglesias, A.; Arias, M.; Brasa, J. [Unidad de Resonancia Magnetica (MEDTEC), Hospital Xeral-Cies, 36204 Vigo (Spain); Gonzalez, A. [Servicio de Anatomia Patologica, Hospital Xeral-Cies, 36204 Vigo (Spain); Conde, C. [Servicio de Neurocirugia, Hospital Xeral-Cies, 36204 Vigo (Spain)
Two cases of idiopathic tumoral calcinosis presenting as an extradural mass are reported. There are few reports in the literature of this pathological process presenting as extradural masses, so both cases represent very unusual locations for tumoral calcinosis. Magnetic resonance imaging features and pathological correlation of these two cases are presented. Tumoral calcinosis might be considered as a rare but possible cause of extradural mass. (orig.)
Tumoral calcinosis is an uncommon and benign condition characterized by the presence of large calcific soft tissue deposits occurring predominantly in a periarticular location. It generally occurs as a complication of renal dialysis or trauma, and is rarely seen in familial and sporadic cases. Bone scintigraphy is a sensitive method for diagnosing tumoral calcinosis. A 28-year-old female patient with a history of operation due to tumoral calcinosis located bilateral hips, referred to our department. She had a tender palpable mass in the right knee and a fistulized incisional scar overlying the bilateral hip joints. A sporadic case of tumoral calcinosis with relapses was presented. (author)
Ricardo J. Duarte
Full Text Available We report a successful surgical intervention to repair bilateral ureteral strictures in a child with juvenile dermatomyositis (JDM and ureteral calcinosis. This is the fourth reported case in medical literature. A 9-year-old-girl with severe JDM, a rare connective tissue disease characterized by skin and muscles vasculitis, was under immunosuppressive therapy. In the course of the disease, she presented recurrent urinary tract infections. Bilateral ureteral dilation was detected by ultrasound (US and intravenous pyelogram (IVP. CT scan showed bilateral ureteral calculus. Ureteroscopy revealed bilateral ureteral calcinosis, confirmed by histopathological analysis. Bilateral double-J stents were placed, resulting in transient improvement of ureteral dilation and infection, but only the surgical removal of abnormal ureteral portions was successful. In conclusion, endourological approach is recommended for diagnosis of urinary tract involvement by JDM because radiological evaluation can be misleading. The immunosuppressive treatment and the resection of damaged ureteral segments have allowed the control of urinary complications.
We present the case of a young adult patient with chronic renal failure who developed painful subcutaneous nodules after failed renal transplant and recommencing dialysis. These nodules were juxta-articular in location and initially located over both shoulders. Radiological evaluation suggested tumoral calcinosis. The patient was placed on a strict dialysis and dietary regimen but was suboptimally compliant with same. The patient developed progressive disease with an increase in size and number of juxta-articular calcified soft-tissue masses. However, 6 months following a second renal transplant clinical and radiological follow up demonstrated marked resolution both in symptomatology and radiographic findings. We present the plain radiographic, CT and MRI findings which demonstrate the typical radiological features of tumoral calcinosis. We correlate these findings with clinical course and histological findings following surgical excision of one of these masses.
Ricardo J. Duarte; Francisco T. Denes; Adriana M. Sallum
We report a successful surgical intervention to repair bilateral ureteral strictures in a child with juvenile dermatomyositis (JDM) and ureteral calcinosis. This is the fourth reported case in medical literature. A 9-year-old-girl with severe JDM, a rare connective tissue disease characterized by skin and muscles vasculitis, was under immunosuppressive therapy. In the course of the disease, she presented recurrent urinary tract infections. Bilateral ureteral dilation was detected by ultrasoun...
Full Text Available This article reports a first case of calcinosis circumscripta in a captive African cheetah (Acinonyx jubatus. Histopathology demonstrated well defined multiple cystic structures containing granular, dark basophilic materials with peripheral granulomatous reaction, characterized by presence of multinucleated giant cells surrounded by a varying amounts of fibrous connective tissues. Special staining with von Kossa revealed black stained deposits confirming the presence of calcium salts.
Chisoni; Mumba; David; Squarre; Maxwel; Mwase; John; Yabe; Tomoyuki; Shibahara
This article reports a first case of calcinosis circumscripta in a captive African cheetah(Acinonyx jubatus).Histopathology demonstrated well defined multiple cystic structures containing granular,dark basophilic materials with peripheral granulomatous reaction,characterized by presence of multinucleated giant cells surrounded by a varying amounts of fibrous connective tissues.Special staining with von Kossa revealed black stained deposits confirming the presence of calcium salts.
Fatehi, Mostafa; Ahuja, Christopher S; Wang, Shelly; Ginsberg, Howard J
Tumoral calcinosis is an uncommon condition characterized by the calcification of periarticular soft tissue. In uremic patients the disease is secondary to metabolic disturbances in predisposed patients. The authors report the case of a 73-year-old woman who presented with a new painful cervical mass while undergoing continuous ambulatory peritoneal dialysis for long-standing end-stage renal disease (ESRD). A CT scan of the neck showed a lobulated, calcified mass in the left paraspinal soft tissue at C2-3. This mass affected the facet joint and also extended into the neural foramen but did not cause any neurological compromise. Due to the patient's significant medical comorbidities, resection was deferred and the patient was followed in the clinic. Subsequent repeat imaging has shown a significant decrease in the size of the mass. In the context of ESRD, a diagnosis of uremic tumoral calcinosis (UTC) was made. The authors conducted a search of the PubMed and EMBASE databases and identified 7 previously reported cases of UTC of the cervical spine. They present a summary of these cases and discuss the etiology, diagnosis, and management of the condition. Although the metabolic disturbances seen in patients undergoing dialysis can lead to tumoral calcinosis, most reported cases involve large joints such as the shoulder or the hip; however, the spine can also be affected and should be considered in the differential diagnosis of patients with uremia as it can mimic aggressive bone-forming neoplasms. PMID:26943247
El Maghraoui, Jaouad; Hammou, Mohamed; Kabbali, Nadia; Arrayhani, Mohamed; Houssaini, Tariq Sqalli
Periarticular tissue calcifications are common in patients with chronic renal failure undergoing hemodialysis. We report the case of a patient on chronic hemodialysis for 10 years with significant improvement of isolated pseudotumoral calcinosis of the right hand after parathyroidectomy The aim of this study was to show the impact of parathyroidectomy on pseudotumoral calcinosis. PMID:27583094
Arabshahi, Bita; Silverman, Robert A.; Jones, Olcay Y.; Rider, Lisa G
We report the successful use of abatacept and sodium thiosulfate in a patient with severe recalcitrant juvenile dermatomyositis complicated by ulcerative skin disease and progressive calcinosis. This combination therapy resulted in significant reduction in muscle and skin inflammation, decreased corticosteroid dependence, and halted the progression of calcinosis.
García y Santos, Carmen; Pereira, Rodrigo; Etcheberry, Gabriel; Goyen, Juan M; Pérez, William; Capelli, Alejandra; Alonso, Eduardo; Ruiz-Díaz, Alejandro; Riet-Correa, Franklin
Enzootic calcinosis was diagnosed in sheep in Uruguay in pastures containing the plant Nierembergia rivularis. In a flock of 200 sheep, 20 were affected and 12 died. Clinical signs were anorexia, weight loss followed by cachexia, stiffness, and kyphosis. At necropsy and histologic examination, mineral deposits were observed on the medial layer of the arteries, heart, lungs, and kidneys. Similar lesions were also observed in 3 sheep forced to graze in an area containing the plant, while no lesions were observed in a control sheep that grazed in an area free of N. rivularis. It is concluded that N. rivularis is a calcinogenic plant for sheep. PMID:22379059
Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami
Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping. PMID:27617523
O'Brien, C R; Wilkie, J S
A 9-month-old speyed Burmese cat was presented with a cutaneous lesion in the dorsal thoracolumbar region. The lesion was characterised by alopecia and whitish deposits within the subcutis and had occurred at the site of a previous progestogen injection (Covinan; Intervet). Excisional biopsy confirmed the diagnosis of calcinosis circumscripta. Recovery of the cat following surgical excision was excellent, with no recurrence of the lesion detected 12 months later. The classification of tissue calcification and the proposed aetiology of calcinosis circumscripta is reviewed. It is concluded that further work is required to determine any link between subcutaneous injections, especially of progestogens, and calcinosis circumscripta.
Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami
Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.
Hsu, Vivien; Bramwit, Mark; Schlesinger, Naomi
We examined the usefulness of dual-energy computed tomography (DECT) in the evaluation of symptomatic systemic sclerosis (SSc)-related calcinosis of the hands. We performed DECT scan of the hands in 16 patients with symptomatic SSc-calcinosis to better characterize the calcinosis, their locations within the soft tissues, and exclude monosodium urate (MSU) crystal deposition. We also compared their computed tomography (CT) images to plain radiographs of one hand. Pertinent clinical information...
Interstitial calcinosis is an uncommon condition in which there is either localized or widely disseminated deposition of calcium in the skin, subcutaneous tissues, muscles, and tendons. Calcinosis is often associated with collagen diseases, scleroderma and dermatomyositis. The authors report a case of interstitial calcinosis associated with dermatomyositis studied with conventional radiograph, ultrasound and magnetic resonance imaging, and correlate the imaging findings with the results of surgical pathology gross examination. (author)
Full Text Available Abstract We report a 14-year-old girl with juvenile dermatomyositis (JDM complicated by severe inflammatory calcinosis successfully treated with thalidomide. She was diagnosed as JDM when she was 4 years old after a few months of increasing lethargy, muscle pain, muscle weakness, and rash. During three months, clinical manifestations and abnormal laboratory findings were effectively treated with oral prednisolone. However, calcinosis was recognized 18 months after disease onset. Generalized calcinosis rapidly progressed with high fever, multiple skin/subcutaneous inflammatory lesions, and increased level of CRP. Fifty mg/day (1.3 mg/kg day of oral thalidomide was given for the first four weeks, and then the dose was increased to 75 mg/day. Clinical manifestations subsided, and inflammatory markers had clearly improved. Frequent high fever and local severe pain with calcinosis were suppressed. The levels of FDP-E, IgG, and tryglyceride, which were all elevated before the thalidomide treatment, were gradually returned to the normal range. Over the 18 months of observation up to the present, she has had no inflammatory calcinosis, or needed any hospitalization, although established calcium deposits still remain. Her condition became painless, less extensive and less inflammatory with the CRP level below 3.08 mg/dL. Recent examination by whole-body 18F-FDG-PET-CT over the 15 months of thalidomide treatment demonstrated fewer hot spots around the subcutaneous calcified lesions.
Buchowski, J.M.; Ahn, N.U.; Ahn, U.M. [Dept. of Orthopaedic Surgery, Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); McCarthy, E.F. [Dept. of Orthopaedic Surgery, Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); Dept. of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD (United States); Mehta, M.B. [Clinical Associates, Good Samaritan Hospital, Baltimore, MD (United States)
An 88-year-old woman with CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) presented with hyperglycemia, intravascular depletion, and atrial fibrillation. The patient was found to have unusually severe calcinosis cutis in both legs extending from the knees to the ankles bilaterally, as well as Raynaud's phenomenon, sclerodactyly, and telangiectasias. The patient was normocalcemic and normophosphatemic. Although subcutaneous calcification is often seen with CREST syndrome, this case is unusual in that the area of involvement was much larger than previously described. Furthermore, the amount of calcinosis was disproportionately severe and was the major cause of symptoms and disability compared with the other components of the syndrome. (orig.)
Solak, Berna; Kara, Rabia Oztas; Vargol, Erdem
Milia-like idiopathic calcinosis cutis (MICC) is a very rare dermatological disorder characterized by multiple whitish to skin colored, milia-like papules, mostly found on the hands. MICC can disappear spontaneously by adulthood; therefore, its early recognition is crucial to avoiding unnecessary interventions. Herein, we present a case of MICC in a 6-year-old girl with Down syndrome.
Lilia Ben Fatma
Full Text Available Subcutis calcinosis, characterized by abnormal calcium deposits in the skin, is a rare complication of using calcium-containing heparin occurring in patients with advanced renal failure. We report the case of an 83-year-old female, a known case of chronic kidney disease (CKD for four years with recent worsening of renal failure requiring hospitalization and hemodialysis. She developed subcutis calcinosis following injection of calcium-containing heparin. Biochemical tests showed serum parathormone level at 400 pg/dL, hypercalcemia, elevated calcium-phosphate product and monoclonal gammopathy related to multiple myeloma. She developed firm subcu-taneous nodules in the abdomen and the thighs, the injection sites of Calciparin ® (calcium nadroparin that was given as a preventive measure against deep vein thrombosis. The diagnosis of subcutis calcinosis was confirmed by the histological examination showing calcium deposit in the dermis and hypodermis. These lesions completely disappeared after discontinuing calcium nadro-parin injections. Subcutis calcinosis caused by injections of calcium-containing heparin is rare, and, to the best our knowledge, not more than 12 cases have been reported in the literature. Pathogenesis is not well established but is attributed to the calcium disorders usually seen in advanced renal failure. Diagnosis is confirmed by histological tests. Outcome is mostly favorable. The main differential diagnosis is calciphylaxis, which has a poor prognosis. Even though rarely reported, we should be aware that CKD patients with elevated calcium-phosphorus product can develop subcutis calcinosis induced by calcium-containing heparin. When it occurs, fortunately and unlike calci-phylaxis, outcome is favorable.
Fatma, Lilia Ben; El Ati, Zohra; Azzouz, Haifa; Rais, Lamia; Krid, Madiha; Smaoui, Wided; Maiz, Hédi Ben; Béji, Soumaya; Zouaghi, Karim; Zitouna, Moncef; Moussa, Fatma Ben
Subcutis calcinosis, characterized by abnormal calcium deposits in the skin, is a rare complication of using calcium-containing heparin occurring in patients with advanced renal failure. We report the case of an 83-year-old female, a known case of chronic kidney disease (CKD) for four years with recent worsening of renal failure requiring hospitalization and hemodialysis. She developed subcutis calcinosis following injection of calcium-containing heparin. Biochemical tests showed serum parathormone level at 400 pg/dL, hypercalcemia, elevated calcium-phosphate product and monoclonal gammopathy related to multiple myeloma. She developed firm subcutaneous nodules in the abdomen and the thighs, the injection sites of Calciparin ® (calcium nadroparin) that was given as a preventive measure against deep vein thrombosis. The diagnosis of subcutis calcinosis was confirmed by the histological examination showing calcium deposit in the dermis and hypodermis. These lesions completely disappeared after discontinuing calcium nadroparin injections. Subcutis calcinosis caused by injections of calcium-containing heparin is rare, and, to the best our knowledge, not more than 12 cases have been reported in the literature. Pathogenesis is not well established but is attributed to the calcium disorders usually seen in advanced renal failure. Diagnosis is confirmed by histological tests. Outcome is mostly favorable. The main differential diagnosis is calciphylaxis, which has a poor prognosis. Even though rarely reported, we should be aware that CKD patients with elevated calcium-phosphorus product can develop subcutis calcinosis induced by calcium-containing heparin. When it occurs, fortunately and unlike calciphylaxis, outcome is favorable. PMID:25193911
Doh, Eun Jin; Moon, Jungyoon; Shin, Sue; Seo, Soo Hyun; Park, Hyun Sun; Yoon, Hyun-Sun; Cho, Soyun
Calcinosis is rarely observed in juvenile-onset amyopathic dermatomyositis in contrast to juvenile-onset dermatomyositis. A 6-year-old female presented with several 0.5 to 2 cm-sized painless grouped masses on both knees for 3 years. The patient also presented with multiple erythematous scaly patches and plaques on both elbows, knuckles, buttock, ankles and cheeks. Her mother had similar skin lesions which were erythematous scaly patches on the knuckles and elbows, since her childhood. When skin biopsy was performed from a left knee nodule, liquid chalky discharge was observed. The biopsy results were consistent with calcinosis cutis. Other biopsies from erythematous patch of the patient and erythematous patch of her mother showed vacuolization of basal cell layer with inflammatory cell infiltrations. Laboratory findings showed normal range of serum phosphorus (4.5 mg/dl), calcium (9.3 mg/dl), 1,25-dihydroxy-vitamin D (10.8 ng/ml) and parathyroid hormone levels (11 pg/ml). Both patient and her mother had no history of muscle weakness and showed normal levels of muscle-specific enzyme. Both patients were diagnosed with juvenile-onset amyopathic dermatomyositis based on histopathology and cutaneous manifestations with no evidence of muscle weakness and no serum muscle enzyme abnormalities. Tumoral calcium deposits observed in daughter was diagnosed as dystrophic calcinosis which can be rarely seen in juvenile-onset amyopathic dermatomyositis. The patient is being treated with oral acetazolamide (40 mg/kg/d) for calcinosis. PMID:27274638
Pavlov-Dolijanovic, Slavica R; Vujasinovic Stupar, Nada Z; Gavrilov, Nikola; Seric, Srdjan
Juvenile dermatomyositis (JDM) is a rare but complex and potentially life-threatening autoimmune disease of childhood. Significant proportions of patients have residual weakness, muscle atrophy, joint contractures, and calcinosis. Recently, new clinical findings, such as lipodystrophy accompanied with increased fat deposition in certain areas, have been reported. So far, it is not known whether the redistribution of body fat may be the type of lipedema of lower extremity. We describe a 39-year-old woman who was diagnosed with JDM at the age of 7. Later she developed symmetrical lipodystrophy of upper extremities and symmetrical lipedema of lower extremities (making 2 and 58.3 % of total body fat mass, respectively), with multiple calcified nodules in the subcutaneous tissues. These nodules gradually increased in size despite therapy. Capillaroscopy findings showed scleroderma-like abnormalities. ANA and anti-U1RNP antibodies were positive. Similar cases with simultaneous occurrence of the lipedema of lower extremities, lipodystrophy of upper extremities, and severe calcinosis complicating JDM have not been published so far. We showed that the calcinosis and lipodystrophy were associated with short duration of active disease. Also, we display case that raises the question whether it is possible overlapping autoimmune diseases revealed during follow-up.
Di Munno, O; Mazzantini, M; Massei, P; Ferdeghini, M; Pitaro, N; Latorraca, A; Ferri, C
Forty-three female patients with systemic sclerosis divided into subgroups based on the extent of skin involvement and the presence of calcinosis, and 50 sex and age-matched healthy controls were investigated for bone mineral density (BMD) on the basis of radial (dual photon absorptiometry, Osteograph, NIM), lumbar, and total body measurements (dual energy X-ray absorptiometry, Lunar DPX, Lunar Corp.), and for parameters of calcium metabolism. The patients showed a lower BMD (mean +/- SD; mg/cm2) than the controls at the radial (313 +/- 69 vs 347 +/- 73; p < 0.005), lumbar (974 +/- 143 vs 1081 +/- 154; p < 0.005), and total body (997 +/- 82 vs 1075 +/- 109; p < 0.05) determinations. The patients with the diffuse form of skin involvement had lower values than those with the limited form. There was a negative correlation between BMD and the duration of the disease. The presence of calcinosis was not found to have any effect on BMD. Calcium metabolism was found to be normal in each subgroup. It may be concluded that generalized osteoporosis is a feature of systemic sclerosis, with and without calcinosis. The extent and duration of the disease may play a role in determining bone loss. PMID:7586976
Nakamura, Tadashi; Hirakawa, Kei; Takaoka, Hirokazu; Iyama, Ken-Ichi
Dystrophic calcinosis in soft tissue occurs in damaged or devitalized tissues in the presence of normal calcium and phosphorous metabolism. It is often noted in subcutaneous tissues in patients with collagen vascular diseases and may involve a relatively localized area or be widespread. A 74-year-old Japanese woman with an overlap of rheumatoid arthritis, Sjögren's syndrome, and systemic sclerosis developed a huge tumor-like mass at the atlanto-axial vertebral joint region that caused severe cervical pain and difficulty in activities of daily living. She also had subcutaneous dystrophic calcification in the soft tissue of the chest wall. Calcinosis associated with systemic sclerosis is a well-recognized phenomenon, but a destructive paraspinal tumor in the cervical spine associated with overlap syndrome is extremely unique. Because calcinosis in spinal locations can be complicated by neurological involvement, patients with progressive symptoms may require surgical intervention. Surgical resection and biological therapy improved this patient's life and activities of daily living. Calcinosis is common in the conditions reviewed here, and different agents have been used for treatment. However, calcinosis management is poorly organized and lacks an accepted classification, systematic studies, and clinical therapeutic trials. The association of calcinosis and collagen vascular diseases is clinically and etiologically important. Although a combination of calcinosis and rheumatoid overlap syndrome is rare, various collagen vascular diseases may occur simultaneously. A perceptive diagnostic approach toward these diseases is critical, and early diagnosis and treatment are needed to prevent dystrophic calcinosis.
Nakamura, Tadashi; Hirakawa, Kei; Takaoka, Hirokazu; Iyama, Ken-Ichi
Dystrophic calcinosis in soft tissue occurs in damaged or devitalized tissues in the presence of normal calcium and phosphorous metabolism. It is often noted in subcutaneous tissues in patients with collagen vascular diseases and may involve a relatively localized area or be widespread. A 74-year-old Japanese woman with an overlap of rheumatoid arthritis, Sjögren's syndrome, and systemic sclerosis developed a huge tumor-like mass at the atlanto-axial vertebral joint region that caused severe cervical pain and difficulty in activities of daily living. She also had subcutaneous dystrophic calcification in the soft tissue of the chest wall. Calcinosis associated with systemic sclerosis is a well-recognized phenomenon, but a destructive paraspinal tumor in the cervical spine associated with overlap syndrome is extremely unique. Because calcinosis in spinal locations can be complicated by neurological involvement, patients with progressive symptoms may require surgical intervention. Surgical resection and biological therapy improved this patient's life and activities of daily living. Calcinosis is common in the conditions reviewed here, and different agents have been used for treatment. However, calcinosis management is poorly organized and lacks an accepted classification, systematic studies, and clinical therapeutic trials. The association of calcinosis and collagen vascular diseases is clinically and etiologically important. Although a combination of calcinosis and rheumatoid overlap syndrome is rare, various collagen vascular diseases may occur simultaneously. A perceptive diagnostic approach toward these diseases is critical, and early diagnosis and treatment are needed to prevent dystrophic calcinosis. PMID:24894107
Baek, Dongjin; Lee, Sang Eun; Kim, Woo-Jin; Jeon, Sanghoon; Lee, Kihwa; Jung, Jaewook; Joo, Hyunchul; Park, Jaehong; Kim, Yonghan; Choi, Young-gyun
Tumoral calcinosis is a rare syndrome characterized by massive subcutaneous soft tissue deposits of calcium phosphate near the large joints. It is more prevalent in patients with chronic kidney disease undergoing dialysis. A 57-year-old woman was referred to our pain clinic with the complaint of severe pain in the left buttock and lateral hip. The patient had been suffering from chronic kidney disease for 10 years and had been undergoing peritoneal dialysis over the past 5 years. The patient's symptom was initially suspected to be of lumbar origin at the L5 level and a left L5 transforaminal epidural block was performed, but without success. Re-evaluation of the physical examination revealed severe tenderness over the left greater trochanter and piriformis muscle. On ultrasonographic evaluation, multiple mass-like lesions in the left buttock were observed. About 30 mL of fluid was aspirated from the cystic lesions, followed by 30 mL mixture of 0.08% levobupivacaine and triamcinolone 40 mg injected into the bursa under ultrasound guidance, which brought pain relief. Trochanteric bursitis was thought of as the cause of the symptoms. The patient was diagnosed with tumoral calcinosis based on the past medical history, simple plain radiographs, and hip magnetic resonance imaging (MRI). We diagnosed a case of greater trochanteric pain syndrome due to tumoral calcinosis related to chronic kidney disease in a patient whose symptoms had initially been considered to be radiating leg pain caused by lumbar spinal disease. We report our experience of symptomatic improvement following the repeated ultrasound-guided aspiration of calcific fluid and the injection of a mixture of local anesthetic and steroid. PMID:25415793
Peritendinous calcinosis of calcaneus tendon associated with dermatomyositis: correlation between conventional radiograph, ultrasound, magnetic resonance imaging and gross surgical pathology; Calcinose peritendinea do tendao calcaneo associada a dermatomiosite: correlacao entre radiografia convencional, ultra-sonografia, ressonancia magnetica e macroscopia cirurgica
Rosa, Ana Claudia Ferreira; Gomide, Lidyane Marques de Paula; Lemes, Marcella Stival [Universidade Federal de Goias (UFG), Goiana, GO (Brazil). Faculdade de Medicina. Hospital das Clinicas; Costa, Edegmar Nunes; Rocha, Valney Luiz da [Universidade Federal de Goias (UFG), Goiania, GO (Brazil). Faculdade de Medicina. Dept. de Ortopedia; Machado, Marcio Martins; Santos Junior, Rubens Carneiro dos; Barros, Nestor de; Cerri, Giovanni Guido [Universidade Federal de Goias (UFG), Goiania, GO (Brazil). Faculdade de Medicina. Dept. de Radiologia; Sernik, Renato Antonio [Sao Paulo Univ., SP (Brazil). Hospital das Clinicas. Inst. de Radiologia; Nunes, Rodrigo Alvarenga [Universidade do Vale do Sapucai (UNIVAS), Pouso Alegre, MG (Brazil). Faculdade de Ciencias Medicas; Albieri, Alexandre Daher [Hospital de Acidentados de Goiania, GO (Brazil)
Interstitial calcinosis is an uncommon condition in which there is either localized or widely disseminated deposition of calcium in the skin, subcutaneous tissues, muscles, and tendons. Calcinosis is often associated with collagen diseases, scleroderma and dermatomyositis. The authors report a case of interstitial calcinosis associated with dermatomyositis studied with conventional radiograph, ultrasound and magnetic resonance imaging, and correlate the imaging findings with the results of surgical pathology gross examination. (author)
Vieira, Alexandre R.; Lee, Moses; Vairo, Filippo; Leite, Julio Cesar Loguercio; Munerato, Maria Cristina; Visioli, Fernanda; D’Ávila, Stéphanie Rodrigues; Wang, Shih-Kai; Choi, Murim; Simmer, James P.; Hu, Jan C-C.
Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.1 In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys. PMID:26337219
Tânia Caroline Monteiro de Castro
Full Text Available A calcinose é uma complicação comum e incapacitante da dermatomiosite. Ela constitui uma característica marcante da doença, ocorrendo principalmente em pacientes pediátricos. Pouco se sabe a respeito de sua fisiopatologia e não existe um tratamento reconhecido universalmente. Este trabalho relata dois casos de dermatomiosite juvenil e calcinose grave com melhora clínica com o uso do alendronato e do diltiazen em um paciente e da imunoglobulina endovenosa em outro.Calcinosis is a common and debilitating complication of dermatomyositis. It is a hallmark of the disease, occurring mainly in pediatric patients. Little is known about its pathophysiology, and there is no universally recognized treatment. This is a report of two children with juvenile dermatomyositis and severe calcinosis who showed improvement with the use of alendronate and diltiazen in one patient, and intravenous immunoglobulin in the other.
OBJECTIVE: The identification of novel autoantibodies in juvenile dermatomyositis (DM) may have etiologic and clinical implications. The aim of this study was to describe autoantibodies to a 140-kd protein in children recruited to the Juvenile DM National Registry and Repository for UK and Ireland. METHODS: Clinical data and sera were collected from children with juvenile myositis. Sera that recognized a 140-kd protein by immunoprecipitation were identified. The identity of the p140 autoantigen was investigated by immunoprecipitation\\/immunodepletion, using commercial monoclonal antibodies to NXP-2, reference anti-p140, and anti-p155\\/140, the other autoantibody recently described in juvenile DM. DNA samples from 100 Caucasian children with myositis were genotyped for HLA class II haplotype associations and compared with those from 864 randomly selected UK Caucasian control subjects. RESULTS: Sera from 37 (23%) of 162 patients with juvenile myositis were positive for anti-p140 autoantibodies, which were detected exclusively in patients with juvenile DM and not in patients with juvenile DM-overlap syndrome or control subjects. No anti-p140 antibody-positive patients were positive for other recognized autoantibodies. Immunodepletion suggested that the identity of p140 was consistent with NXP-2 (the previously identified MJ autoantigen). In children with anti-p140 antibodies, the association with calcinosis was significant compared with the rest of the cohort (corrected P < 0.005, odds ratio 7.0, 95% confidence interval 3.0-16.1). The clinical features of patients with anti-p140 autoantibodies were different from those of children with anti-p155\\/140 autoantibodies. The presence of HLA-DRB1*08 was a possible risk factor for anti-p140 autoantibody positivity. CONCLUSION: This study has established that anti-p140 autoantibodies represent a major autoantibody subset in juvenile DM. This specificity may identify a further immunogenetic and clinical phenotype within the
Joseph, Leo; Joseph, Selvanayagam [Vinodhagan Memorial Hospital and Dr. Joseph' s Ortho Clinic, Department of Orthopaedic Surgery, Thanjavur (India); Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); Presneau, Nadege [University College London (UCL), Cancer Institute, London (United Kingdom); O' Donnell, Paul [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); University College London (UCL), The Institute of Orthopaedics and Musculoskeletal Science, London (United Kingdom); Diss, Tim [University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); Flanagan, Adrienne Margaret [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Cancer Institute, London (United Kingdom); University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); Institute of Orthopaedics and Musculoskeletal Science, Stanmore, Middlesex (United Kingdom)
To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)
Dystrophic calcification in muscles of legs in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome: Accurate evaluation of the extent with 99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography
We present the case of a 35-year-old man with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia variant scleroderma who presented with dysphagia, Raynaud's phenomenon and calf pain. 99mTc-methylene diphosphonate bone scintigraphy was performed to identify the extent of the calcification. It revealed extensive dystrophic calcification in the left thigh and bilateral legs which was involving the muscles and was well-delineated on single photon emission computed tomography/computed tomography. Calcinosis in scleroderma usually involves the skin but can be found in deeper periarticular tissues. Myopathy is associated with a poor prognosis
Dystrophic calcification in muscles of legs in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome: Accurate evaluation of the extent with (99m)Tc-methylene diphosphonate single photon emission computed tomography/computed tomography.
Chakraborty, Partha Sarathi; Karunanithi, Sellam; Dhull, Varun Singh; Kumar, Kunal; Tripathi, Madhavi
We present the case of a 35-year-old man with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia variant scleroderma who presented with dysphagia, Raynaud's phenomenon and calf pain. (99m)Tc-methylene diphosphonate bone scintigraphy was performed to identify the extent of the calcification. It revealed extensive dystrophic calcification in the left thigh and bilateral legs which was involving the muscles and was well-delineated on single photon emission computed tomography/computed tomography. Calcinosis in scleroderma usually involves the skin but can be found in deeper periarticular tissues. Myopathy is associated with a poor prognosis.
Dystrophic calcification in muscles of legs in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome: Accurate evaluation of the extent with 99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography
Chakraborty, Partha Sarathi; Karunanithi, Sellam; Dhull, Varun Singh; Kumar, Kunal; Tripathi, Madhavi
We present the case of a 35-year-old man with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia variant scleroderma who presented with dysphagia, Raynaud's phenomenon and calf pain. 99mTc-methylene diphosphonate bone scintigraphy was performed to identify the extent of the calcification. It revealed extensive dystrophic calcification in the left thigh and bilateral legs which was involving the muscles and was well-delineated on single photon emission c...
Rosemeri Oliveira Vasconcelos
Full Text Available Morphometric, immunohistochemical and ultrastructural studies were carried out on the diffuse intimal thickening (DIT in arteries of 7 sheep with clinical signs of naturally occurring enzootic calcinosis due to ingestion of the plant Nierembergia veitchii. Arterial lesions consisted of medial deposition of calcium salts and DIT. Calcification of the intima was rare, mild and located near the elastic lamina. By immunohistochemistry a-actin was detected in cells of the media and in cells forming the intimal thickening. Receptors for 1,25(OH2 vitamin D3 were detected in nuclei of intimal, medial and endothelial cells. DIT was irregularly distributed and was neither proportionally related to the intensity of the underlying mineralization area nor to the thickening of the remaining media. Ultrastructural morphometry in smooth muscle cells (SMCs of the media and thickened intima revealed, in the latter, an increase of 318% in the volumetric fraction of those organelles involved in synthesis and a proportional decrease in contractile elements when compared to normal values of media cells. There were histological and ultrastructural evidences of modification of SMCs and their migration to the intima, where they proliferated causing DIT. It was concluded that DIT is a consistent component of arteriosclerotic lesions in N. veitchii induced calcinosis of sheep and that the predominant cell in this process is the SMCs originated from its predecessors of the media. It is suggested that the inducing factor for the arterial changes is 1,25(OH2 D3 present in N. veitchii.Foram feitos estudos morfométrico, imunoistoquímico e ultra-estrutural do espessamento intimal difuso (DIT das artérias de 7 ovinos com sinais clínicos de calcinose enzoótica espontânea causada pela ingestão da planta Nierembergia veitchii. As lesões caracterizavam-se por deposição de sais de cálcio na média como placas e estrias que, com frequência faziam saliência para a luz
Uso do clodronato endovenoso na calcinose difusa em uma criança com síndrome de superposição esclerose sistêmica e dermatomiosite Use of clodronate in extensive calcinosis in a child with systemic sclerosis and dermatomyositis overlap
Gláucio R. Werner de Castro
Full Text Available Os autores descrevem o caso de uma garota negra, com diagnóstico de síndrome de superposição dermatomiosite e esclerose sistêmica, que desenvolveu calcinose difusa, complicada por infecções secundárias e significativa limitação funcional de membros. Tratamento com colchicina, diltiazem e alendronato sódico não se mostrou eficaz no controle da calcinose, requerendo uso endovenoso bimestral de clodronato, que contribuiu para significativa melhora na cicatrização das úlceras cutâneas e na qualidade de vida.The authors report an Afro-Brazilian girl with systemic sclerosis and dermatomyositis overlap who evolved with extensive calcinosis, complicated by secondary infections and important disability. Treatment with colchicine, diltiazem and sodium alendronate was not effective in the control of calcinosis, requiring the use of bimonthly intravenous doses of clodronate that resulted in significant improvement in the healing of cutaneous ulcers and in the quality of life of the patient.
Giovannini Cesar Abrantes Lima de Figueiredo
Full Text Available We present an uncommon case of a 3-year-old boy with a finger sucking habit who developed dystrophic calcification in his left thumb. Two years after excision, there was no recurrence, and the thumb retained full range of motion. We also discuss its probable pathogenesis and present a brief review of the literature about orthopedic complications in the hand due to this habit.Os autores apresentam caso incomum de uma criança de três anos de idade com o hábito de chupar o dedo que desenvolveu calcinose distrófica no polegar esquerdo. Dois anos após a ressecção cirúrgica, não ocorreu recidiva e o polegar mantém todos os movimentos. Discutem, ainda, sua provável patogênese e fazem breve revisão da literatura a respeito das complicações ortopédicas na mão devido a este hábito.
Loginov, A.S.; Sivash, Eh.S.; Kudryavtseva, G.V. (Tsentral' nyj NII Gastroehntrologii, Moscow (USSR))
X-ray diagnosis of the pancreatic gland calculous damage as well as chronic pancreatitis have been studied in 23 patients. A methodologic approach to examination of this group of patients was defined. Posteroanterior radiography has been shown to be of decisive importance in diagnosis of the calcified pancreatic gland. Duodenography and choleduodenography both considerably promote recognition of chronic pancreatitis. The radiologic method also allows one to reveal a series of complications: the common bile duct compression, duodenal stenosis, pancreatic tumor in the presence of chronic pancreatitis, malabsorption syndrome.
Lourdes Bolla de Lezcano
Full Text Available Resumen La calcifilaxis es un síndrome clínico caracterizado por una calcificación vascular progresiva que ocasiona la aparición de lesiones violáceas, frecuentemente dolorosas, en la piel de pacientes con insuficiencia renal crónica, diálisis o trasplante renal, asociado usualmente a niveles elevados de hormona paratiroidea. Se presenta el caso clínico de una mujer de 44 años, diabética con insuficiencia renal crónica, en hemodiálisis desde hace 2 años, que fue diagnosticada de calcifilaxis tras sospecha clínica y biopsia de lesiones cutáneas. Abstract Calciphylaxis is a clinical syndrome characterized by progressive vascular calcification that causes the appearance of purplish lesions, often painful, in the skin of patients with chronic renal failure, dialysis or kidney transplantation, usually associated with elevated levels of parathyroid hormone. We report a case of a 44-year-old diabetic woman with chronic renal failure on hemodialysis for 2 years. She was diagnosed with calciphylaxis after clinical suspicion and biopsy of skin lesions.
Klimiuk, P S; Grennan, A; Weinkove, C.; Jayson, M I
Platelet serotonin concentrations were measured in 43 patients with systemic sclerosis, in 11 patients with primary Raynaud's phenomenon, and in 38 normal controls. Patients with the CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) had significantly lower platelet serotonin concentrations than normal controls. Patients with diffuse systemic sclerosis had normal platelet serotonin concentrations. In patients with CREST treatment with keta...
谭泽兵; 杨建洪; 刘金贵; 杨建宝; 廖新宇
@@ 特发性基底节钙化(idiopathic basal ganglia calcifications,IBGC)是一种少见病,又称血管性铁钙质沉着症(cerebrovascular ferrocalcinosis)、进行性苍白球齿状核钙化症(progressive strio-pallido-dentate calcinosis)、家族性特发性基底节钙化(familial idiopathic basal ganglia calcifications,FIBGC)、特发性双侧纹状体-苍白球-齿状核钙质沉着(idiopathic bilateral striatopallidodentate calcinosis,IBSPDC)、特发性非动脉硬化性脑组织钙化(idiopathic nonarteriosclerotic cerebral calcification,INASCC).
Paula A. Fontana; Carolina N. Zanuzzi; Barbeito, Claudio G; Gimeno, Eduardo J; Portiansky, Enrique L.
Solanum glaucophyllum (Sg) [= S. malacoxylon] is a calcinogenic plant inducing "Enzootic Calcinosis" in cattle. The 1,25-dihydroxyvitamin D3, its main toxic principle, regulates bone and calcium metabolism and also exerts immunomodulatory effects. Thymocyte precursors from bone marrow-derived progenitor cells differentiate into mature T-cells. Differentiation of most T lymphocytes is characterized not only by the variable expression of CD4/CD8 receptor molecules and increased surface density ...
McMahon, R F; Babbs, C.; Warnes, T W
Nodular regenerative hyperplasia of the liver (NRHL) has been found in association with collagen vascular diseases, after drug therapy, with autoimmune disease, and with a variety of haematological disorders. The association of NRHL with the syndrome of Calcinosis cutis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectasia (CREST syndrome) has only been reported on two previous occasions. The liver disease usually associated with CREST syndrome is primary biliary ci...
Fibroblast growth factor 23 (FGF23) decreases serum phosphate by inhibiting proximal tubular phosphate reabsorption and intestinal phosphate absorption through the reduction of serum 1,25-dihydroxyvitamin D [1,25 (OH) (2)D] levels. Excessive actions of FGF23 cause hypophosphatemic diseases with impaired mineralization of bone. On the other hand, impaired actions of FGF23 result in hyperphosphatemic familial tumoral calcinosis characterized by hyperphosphatemia and high 1,25 (OH) (2)D levels. Ectopic calcification around large joints and in blood vessels can be observed in patients with this disease. Therefore, FGF23 plays essential roles in the regulation of bone mineralization and prevention of ectopic calcification.
Multiple cartilaginous exostoses were diagnosed in a two-year-old Great Dane and a four-month-old border collie. Clinically, the Great Dane showed only mild discomfort, while the border collie exhibited tetraparesis due to cervicothoracic compression. Unusual features in the Great Dane were exostoses that bridged physes, with progression after skeletal maturity. The border collie puppy's exostoses resembled tumoral calcinosis radiographically. Limb exostoses in this puppy often were para-articular, and most were not attached to the underlying bone. These features resembled metachondromatosis in humans. Analysis of previously reported cases of multiple cartilaginous exostoses indicated that the prognosis is guarded to poor
Volkmann, Elizabeth R; Furst, Daniel E
The skin is the most common organ system involved in patients with systemic sclerosis (SSc). Nearly all patients experience cutaneous symptoms, including sclerosis, Raynaud's phenomenon, digital ulcers, telangiectasias, and calcinosis. In addition to posing functional challenges, cutaneous symptoms are often a major cause of pain, psychological distress, and body image dissatisfaction. The present article reviews the main features of SSc-related cutaneous manifestations and highlights an evidence-based treatment approach for treating each manifestation. This article also describes novel treatment approaches and opportunities for further research in managing this important clinical dimension of SSc.
Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasias. The transforming growth factor beta (TGF-β) has been identified has a major player in the pathogenic process, while low level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940nm using microsecond domain pulsing and continuous wave mode (CW) on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks, using a sequential pulsing mode on one elbow, and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, and health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Significant functional and morphologic improvements were observed after LLLT, with best results seen with the pulsing mode. No significant adverse effects were noted. Two mechanisms of action may be at play. The 940nm wavelength provides inside-out heating possibly vasodilating capillaries which in turn increases catabolic processes leading to a reduction of in situ calcinosis. LLLT may also improve symptoms by triggering a cascade of cellular reactions, including the modulation of inflammatory mediators.
Memin, Y; Monville, C; Ryckewaert, A
In 108 women over 80 (mean age 88,4 years, extremes 80 and 99 years) hospitalized in a geriatric service for various reasons, radiograms were made of both knees in the frontal aspect on standard film to detect calcinosis of the meniscus and chondrocalcinosis of the joint. In 25 women (23.1%) the radiographs revealed calcinosis of the meniscus with or without chondrocalcinosis. In these 25 cases a lateral X-ray was also made of the two knees, frontal X-rays were made of the pelvis, thumbs and shoulders. In 22 cases (88%) these revealed calcification of the fibrocartilages or articular cartilages in joints other than the knee. Seven of the 25 women had at least one attack of articular inflammation (especially of the knee) resembling a pseudo-gout crisis. The frequency of chronic arthropathies resembling arthroses was high in the 25 patients with chondrocalcinosis: 8 (32%) had an internal or external femoro-tibial arthrosis, as against 11 of the 83 patients (13%) of the same age without chondrocalcinosis, a significant difference. Eleven of the 25 women had signs of femororotular arthrosis on the lateral X-rays of the knees, 5 had coxarthrosis (with in 3 cases a radiological image of fibrocartilaginous or coxofemoral cartilaginous calcification). One women had chronic radiocarpal arthropathy evocative or chondrocalcinosis. Ten had a scaphotrapezoidal arthrosis, 5 arthrosis of the shoulder, 3 with radiological aspect of glenohumeral chondrocalcinosis. PMID:644241
Full Text Available Derangements in serum phosphate level result in rickets/osteomalacia or ectopic calcification indicating that healthy people without these abnormalities maintain serum phosphate within certain ranges. These results indicate that there must be a regulatory mechanism of serum phosphate level. Fibroblast growth factor 23 (FGF23 was identified as the last member of FGF family. FGF23 is produced by bone and reduces serum phosphate level by suppressing phosphate reabsorption in proximal tubules and intestinal phosphate absorption through lowering 1,25-dihydroxyvitamin D level. It has been shown that excess and deficient actions of FGF23 result in hypophosphatemic rickets/osteomalacia and hyperphosphatemic tumoral calcinosis, respectively. These results indicate that FGF23 works as a hormone, and several disorders of phosphate metabolism can be viewed as endocrine diseases. It may become possible to treat patients with abnormal phosphate metabolism by pharmacologically modifying the activity of FGF23.
Full Text Available A 60 year old female with a history of fibromyalgia presented with dyspnea and skin changes, predominantly on the hands. Physical exam and imaging showed classic findings of limited cutaneous systemic sclerosis (scleroderma CREST syndrome. Calcinosis cutis (Figure 1A, Raynaud’s (not shown but endorsed by the patient, Esophageal dysmotility (Figure 1B, dilated esophagus, Sclerodactyly (Figure 1C, and Teleganectasias (Figure 1D were all present. Ground glass opacities were seen predominantly in the bilateral lower lung zones, associated with increased reticular markings (Figure 2A, and traction bronchiectasis (Figure 2B. Pulmonary involvement is noted in the majority of scleroderma patients. Interstitial lung disease (ILD is common and often portends a poor prognosis.
Mills, Joseph L
The confluence of several chronic conditions--in particular ageing, peripheral artery disease, diabetes, and chronic kidney disease--has created a global wave of lower limbs at risk for major amputation. While frequently asymptomatic or not lifestyle limiting, at least 1% of the population has peripheral artery disease of sufficient severity to be limb threatening. To avoid the critical error of failing to diagnose ischaemia, all patients with diabetic foot ulcers and gangrene should routinely undergo physiologic evaluation of foot perfusion. Ankle brachial index is useful when measurable, but may be falsely elevated or not obtainable in as many as 30% of patients with diabetic foot ulcers primarily because of medial calcinosis. Toe pressures and skin perfusion pressures are applicable to such patients.
Schjoldager, Katrine Ter-Borch Gram; Vester-Christensen, Malene B.; Goth, Christoffer K.;
-type O-glycosylation is found on serine and threonine amino acids and up to 20 distinct polypeptide GalNAc transferases catalyze the first addition of GalNAc to proteins making this step the most complex and differentially regulated steps in protein glycosylation. There is no reliable prediction model......Site-specific GalNAc-type O-glycosylation is emerging as an important co-regulator of proprotein convertase (PC) processing of proteins. PC processing is crucial in regulating many fundamental biological pathways and O-glycans in or immediately adjacent to processing sites may affect recognition...... and function of PCs. Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause familial tumoral calcinosis and hyperostosis hyperphosphatemia. GalNAc...
Mahdieh Rezaei; Sara Rostami; Mehdi Saberi; Dariush Vosugh
We report a case of pituitary-dependent hyperadrenocorticism in a 10-year-old, female, terrier dog. The animal was admitted due to polyphagia, weight gain, polyuria, polydipsia, hair loss, exercise intolerance and panting at rest. On physical examination, abdominal distention, truncal and bilaterally symmetric alopecia, thin hypotonic skin, comedones, bruising, hyperpigmentation and calcinosis cutis on the dorsal midline were observed. Hematologic investigations showed stress leukogram, high serum alkaline phosphatase activity, mild to moderate alanine aminotransferase activity, hypercholesterolemia, hypertriglyceridemia and hyperglycemia. Mild generalized interstitial lung patterns and hepatomegaly were detected in the radiographs. Bilaterally symmetric normal-sized adrenal glands were also diagnosed in ultrasonography. Diagnosis of pituitary-dependent hyperadrenocorticism was confirmed with low-dose dexamethasone suppression test. The dog was successfully treated with mitotane.
Full Text Available Calcium channel blockers are a group of drugs often used to treat cardiovascular diseases, such as hypertension, angina, peripheral vascular disorders and some arrhythmias. These drugs may suppress the growth and proliferation of vascular smooth muscle cells and fibroblasts, and inhibit the synthesis of extracellular-matrix proteins,such as collagen, fibronectin, proteoglycans. Some calcium channel blockers also have immunomodulatory or dysregulatory effects on lymphocytes and can suppress superoxide generation and phagocytic activity of neutrophils. Moreover, mast cell degranulation and platelet aggregation may also be impaired. On account of these properties, calcium channel blockers have also been used for the prevention and treatment of various dermatologic diseases. In this review, we evaluated the use of calcium channel blockers in various dermatologic diseases, such as Raynaud’s phenomenon, chilblains, chronic anal fissures, vulvodynia, keloids and burn scars, calcinosis cutis, and leiomyoma.
Denton, Christopher P
Systemic sclerosis is the most severe disease within the scleroderma spectrum and is a major medical challenge with high mortality and morbidity. There have been advances in understanding of pathogenesis that reflect the interplay between immune-inflammatory processes and vasculopathy and fibrosis. It can be regarded as a disease of connective tissue repair and this leads to organ-based complications. However the aetiology and triggering events remain to be elucidated. Treatment is available for many aspects of the disease although the available therapies are not curative and some complications remain very challenging, especially non-lethal manifestations such as fatigue, calcinosis and anorectal dysfunction. Immunosuppression is now established as a beneficial approach but balancing risk and benefit is vital, especially for powerful approaches such as autologous stem cell transplantation.
Xu, Yaohui; Petronic-Rosic, Vesna; Stein, Sarah L
A 7-month-old healthy white boy presented for evaluation of a papule on his right ear. His mother reported a small cut-like lesion at this site shortly after birth that had gradually grown over time. The patient was born full term via repeat cesarean section. On physical examination, located on the right superior helix, there was a 5-6 mm, pink, firm papule with a rough scaly surface and peripheral erythema (Figure 1). The lesion was shave excised and sent for histologic analysis. Microscopic examination revealed a defect of the epidermis with underlying fibrin deposits (Figure 2). Subjacent to the ulcer, there was chondroid tissue, granulation tissue with prominent vascularity, and an extensive amount of amorphous calcified material throughout the dermis extending to the base of the specimen (Figure 3). The clinical and pathologic findings were consistent with a subepidermal calcified nodule (SCN), an uncommon idiopathic calcinosis. The lesion was surgically removed with good results.
Prevalência de achados cutâneos em portadores de esclerose sistêmica: experiência de um hospital universitário Prevalence of cutaneous findings in systemic sclerosis patients: experience of a teaching hospital
Full Text Available FUNDAMENTOS: A esclerose sistêmica é colagenose pouco comum e muito rica em manifestações cutâneas. OBJETIVO: Estudar a prevalência das manifestações cutâneas na esclerose sistêmica em geral e nos seus diferentes subtipos (formas limitada, generalizada e mista. MÉTODOS: Analisaram-se 32 pacientes de esclerose sistêmica (20 com forma limitada, oito com generalizada e quatro com forma mista quanto à esclerose de pele, fenômeno de Raynaud, cicatrizes estelares, telangiectasias, leucomelanodermia, microstomia, calcinose e prurido. RESULTADOS: Encontraram-se esclerose de pele e fenômeno de Raynaud em 100% dos pacientes; cicatrizes estelares em 65,6%; telangiectasias em 43,7%; leucomelanodermia em 43,7%; microstomia em 31,25%; prurido em 28,1% e calcinose em 12,5%. Não se observaram diferenças entre as formas localizada e difusa da doença, sendo p = 1 para cicatrizes estelares; p = 0,69 para telangiectasias; p = 0,22 para microstomia, p = 1 para calcinose e prurido. A forma mista de doença não diferiu das formas isoladas (limitada e difusa quanto aos mesmos achados. CONCLUSÕES: As manifestações mais comuns na esclerose sistêmica são a esclerose de pele e o fenômeno de Raynaud, e a mais rara é a calcinose. As três formas apresentam freqüências semelhantes de Raynaud, cicatrizes estelares, microstomia, telangiectasia, calcinose e prurido.BACKGROUND: Systemic sclerosis or scleroderma is a rare collagen disease presenting several cutaneous manifestations. OBJECTIVE: To study the prevalence of cutaneous manifestations in systemic sclerosis and its subtypes (limited form, diffuse form and overlap syndrome. METHODS: We studied 32 patients with scleroderma (20 with the limited form; 8 with the diffuse form and 4 with overlap syndrome considering skin sclerosis, Raynaud's phenomenon, digital scars, telangiectasia, leucomelanoderma (pigmentary changes, microstomy, calcinosis and pruritus. RESULTS: We found skin sclerosis and
Quartier, Pierre; Gherardi, Romain K
Juvenile dermatomyositis (JDM) is a systemic, inflammatory, idiopathic disease, mainly affecting the skin and the muscles, starting before the age of 16, with an incidence around one case per 1 million children. Some patients display typical features of JDM without skin involvement, or even without muscle involvement; however, both tissues are affected over time in most cases. Diagnosis criteria were established by Bohan and Peter 35 years ago, based on the presence of typical skin rash and proximal muscle involvement. Other conditions have to be ruled out before making a diagnosis of JDM, such as other connective tissue diseases, polymyositis, infectious/postinfectious myositis, genetic diseases, or metabolic or drug-induced myopathies. Unlike adult-onset dermatomyositis, JDM is exceptionally associated with a malignant disease. JDM may also affect several organs, including the lungs and the digestive tract. In a subset of patients, glucose intolerance, lipodystrophia and/or calcinosis develop. Delay in treatment initiation or inadequate treatment may favor diffuse, debilitating calcinosis. JDM patients have to be referred to reference pediatric centers to properly assess disease activity and disease-related damage (including low bone density in most cases), and to define the best treatment. Long-lasting corticosteroid therapy remains the gold standard, together with physiotherapy. Ongoing clinical trials are assessing the effect of several immunosuppressive and immunomodulatory drugs, which may help to control the disease and possibly demonstrate a corticosteroid-sparing effect. Most patients respond to treatment; relapses are frequent but a complete disease remission is achieved in most cases before adulthood.
Mitrovic, D; Stankovic, A; Morin, J; Borda-Iriarte, O; Uzan, M; Quintero, M; Memin, Y; Bard, M; de Sèze, S; Richewaert, A
The authors have studied the incidence of menisco-calcinosis (MC) and that of menisco-chondrocalcinosis (MCC) of knee joints of 108 non selected cadavera. The mean age of the subjects was 71.8 +/- 13.8 years. The study was performed by radiographic examination of the menisci and cartilagineous fragments of femoral condyles using high contrast films. The incidence of MC or MCC was found to be 18.5 per cent. It was slightly higher in females (21.5 p. cent) than in males (15.8 p. cent) subjects but this difference failed to reach the level of statistical significance. No positive case was detected before the age of 60 years. For the age groups of: 60-69, 70-79, 80-89 and over 90 years, its incidence was: 11.7; 26.9; 21.2 and 50 (4 subjects out of 8) per cent respectively. Approximately 40 per cent of all positive cases had meniscocalcinosis without associated chondrocalcinosis. No single case of chondrocalcinosis without meniscocalcinosis was observed. Six out of 8 cases with MC calcinosis and 2 out of 12 cases with MCC were unilateral. The external menisci were more frequently and more heavily affected than internal ones. Eighty per cent of the knees affected by either MC or MCC were at the same time associated to an osteoarthrotic lesion compared to 35 p. cent of the knees without MC or MCC matched for age: a result which appeared to be highly significant difference. PMID:6896928
Full Text Available Mixed connective tissue disease (MCTD is a term involving the features of lupus systemic sclerosis, polymyositis, rheumatoid arthritis and high titre of anti ribonucleoprotein (RNP antibodies, exact etiology is not known. It is characterized by microvascular damage, immune system activation leading to inflammation and excessive deposition of collagen in the skin, lungs, heart, gastrointestinal tract and kidneys. The females are being more affected especially after childbirth attributed to the hypothesis of microchimerism, the pathogenesis being a two way migration of fetal cells through the placenta. It cannot be cured completely but treatment with corticosteroids is helpful. ACE inhibitors are useful in renal involvement and hypertension. We had a case of mixed connective tissue disorder in a patient aged 28 years with 12 weeks of gestation for medical termination of pregnancy (MTP and permanent sterilization. The complications are preeclampsia, preterm labor, fetal growth restriction, eclampsia, thrombocytopenia and infections like pneumonia, sepsis like syndrome and the maternal mortality rate is 325/100000. This is a unique case of MCTD wherein we had limited cutaneous disease like CREST-calcinosis, Raynaud’s phenomenon, esophageal involvement, sclerodactyly and telangiectasia of a lesser degree. So early diagnosis and timely intervention is advocated to prevent complications
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention. This was followed by improvement in attaining developmental milestones. Recently, he was diagnosed with growth hormone deficiency. This case suggests the potential association of CM-I with PHP-Ia. Larger studies are needed to assess whether CM-I with hydrocephalus are common associations with PHP-Ia and to define potential genetic links between these conditions. We propose a low threshold in performing brain MRI on PHP-1a patients, especially those with persistent developmental delay to rule out CM-I. Early intervention may improve neurodevelopmental outcomes and prevent neurosurgical emergencies. PMID:27703483
Full Text Available Background: Preoperative detection of parathyroid adenoma is a diagnostic challenge. The sonography and computerized tomography (CT scan demonstrate high sensitivity but low specificity. The advent of radionuclide scanning technique has enhanced the specificity in this context. Aim: We undertook a study to assess the role of radionuclide scanning in suspected cases of parathyroid adenomas. Materials And Methods: Totally 28 cases were incorporated in the study. The suspicion was raised either due to raised PTH levels or recurrent calcinosis. Most of these patients had estimation of calcium done as a routine or specific investigation. The parathyroid scan was performed using either of the two techniques - Dual isotope subtraction or Sestamibi washout technique. We also used the recent approach of fusion imaging (CT + tomographic nuclear images in selected cases. Results: There were 16 true positive, 10 true negative, 1 false negative and 1 equivocal scan findings. The findings were compared with sonography, CT Scan and PTH values. The true positive yield in our study was 57%, true negative 35% and the overall sensitivity and specificity was found to be 94% and 100% respectively. Conclusion: We conclude that parathyroid scintigraphy is a reliable and sensitive technique in the preoperative detection of parathyroid adenomas and should be the first choice of imaging modality in suspicion of parathyroid adenoma.
Full Text Available Abstract Background Canine leishmaniosis (CanL caused by Leishmania infantum is an endemic zoonosis in southern European countries. Infected dogs can present rare or atypical forms of the disease and diagnosis can be challenging. The present report describes a case of tongue nodules in a 3-year-old neutered female Labrador Retriever dog with leishmaniosis. Findings A fine needle aspiration of the lingual nodules revealed amastigote forms of Leishmania inside macrophages. Differential diagnosis ruled out neoplasia, calcinosis circumscripta, solar glossitis, vasculitis, amyloidosis, eosinophilic granulomas, chemical and electrical burns, uremic glossitis and autoimmune diseases. Combined therapy with antimoniate meglumine and allopurinol for 30 days resulted in the normalization of hematological and biochemical parameters. Two months after diagnosis and the beginning of treatment, a mild inflammatory infiltrate was observed by histopathology, but an anti-Leishmania immunofluorescence antibody test (IFAT was negative as well as a PCR on both tongue lesions and a bone marrow aspirate. Seven months after diagnosis, the dog’s general condition appeared good, there were no tongue lesions and a new IFAT was negative. Fifteen months after diagnosis this clinically favourable outcome continued. Conclusions The dog could have suffered a relapsing episode of CanL, but a new systemic or local infection cannot be excluded. Regular clinical re-evaluation should be maintained, as a future relapse can potentially occur. In conclusion, CanL should be considered in the differential diagnosis of nodular glossitis in dogs.
Schjoldager, Katrine Ter-Borch Gram; Vester-Christensen, Malene B; Goth, Christoffer K; Petersen, Thomas Nordahl; Brunak, Søren; Bennett, Eric P; Levery, Steven B; Clausen, Henrik
Site-specific GalNAc-type O-glycosylation is emerging as an important co-regulator of proprotein convertase (PC) processing of proteins. PC processing is crucial in regulating many fundamental biological pathways and O-glycans in or immediately adjacent to processing sites may affect recognition and function of PCs. Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause familial tumoral calcinosis and hyperostosis hyperphosphatemia. GalNAc-type O-glycosylation is found on serine and threonine amino acids and up to 20 distinct polypeptide GalNAc transferases catalyze the first addition of GalNAc to proteins making this step the most complex and differentially regulated steps in protein glycosylation. There is no reliable prediction model for O-glycosylation especially of isolated sites, but serine and to a lesser extent threonine residues are frequently found adjacent to PC processing sites. In the present study we used in vitro enzyme assays and ex vivo cell models to systematically address the boundaries of the region within site-specific O-glycosylation affect PC processing. The results demonstrate that O-glycans within at least ±3 residues of the RXXR furin cleavage site may affect PC processing suggesting that site-specific O-glycosylation is a major co-regulator of PC processing.
Tahmasbi-Arashlow, Mehrnaz; Barghan, Sevin; Kashtwari, Beeba; Nair, Madhu K. [Oral and Maxillofacial Radiology, Colleges of Dentistry and Medicine, University of Florida, Gainesville (United States)
Mönckeberg sclerosis is a disease of unknown etiology, characterized by dystrophic calcification within the arterial tunica media of the lower extremities leading to reduced arterial compliance. Medial calcinosis does not obstruct the lumina of the arteries, and therefore does not lead to symptoms or signs of limb or organ ischemia. Mönckeberg sclerosis most commonly occurs in aged and diabetic individuals and in patients on dialysis. Mönckeberg arteriosclerosis is frequently observed in the visceral arteries, and it can occur in the head and neck region as well. This report describes a remarkable case of Mönckeberg arteriosclerosis in the head and neck region as detected on dental imaging studies. To the best of our knowledge, this is the first case that has been reported in which this condition presented in the facial vasculature. The aim of this report was to define the radiographic characteristics of Mönckeberg arteriosclerosis in an effort to assist health care providers in diagnosing and managing this condition.
Full Text Available Objective: It was aimed to identify skin findings those were seen in patients who undergone renal transplantation. Methods: Patients who have been followed in Erciyes University Nephrology Hospital renal transplantation outpatient clinic were included in the study. They were evaluated for dermatologic findings during routine controls. Age, gender, transplantation date, identity of organ donor, history of medications, dermatological history and dermatological findings during examination were recorded. Biopsy was performed when needed. Results: In total 94 patients, 25 female (26.6% and 69 male (73.4%, were recruited to the study. Mean age was 36±10 years. The most frequent skin finding was drug-related acne (n=20. Most common infectious disease was verruca (n=17. There were viral disease other than verruca such as herpes zoster (n=3, superficial mycosis such as onychomycosis (n=5, tinea versicolor, tinea pedis and bacterial skin disease (n=2, and paronychia (n=1 and pre-malign lesions such as actinic cheilitis and bowenoid papulosis. Besides these, stria (n=3, kserosis (n=2, cornu cutaneum, café-au-lait spots, sebaceous hyperplasia and seborrheic dermatitis, skin tag, hypertrichosis, unguis incarinatus and calcinosis were other skin findings those were seen. No malign skin lesion was observed in any of patients. Conclusion: Miscellaneous skin lesions should develop in patients those undergone renal transplantation due to long-term utilization of various immunosuppressive drugs.
Full Text Available The intestinal epithelium has a critical roll in host defence. One specialised cell type involved in this function is the Paneth cell, which secretes many substances with antimicrobial properties in response to different stimuli. Under pathological conditions, changes in the Paneth cell number, morphology and location as well as in granule number, morphology and composition have been reported. In the normal animal, 1,25-dihydroxyvitamin D3 participates in the maintenance of mineral homeostasis, immunomodulation and cell proliferation and differentiation. Solanum glaucophyllum, a calcinogenic plant containing high levels of 1,25-dihydroxyvitamin D3, is responsible for a condition known as enzootic calcinosis in ruminants, characterised by loss of body condition and mineralization of soft tissues. Using and established rabbit model, this study analyses the changes that rabbit Paneth cells undergo during intoxication with S. glaucophyllum. Male New Zealand white rabbits were experimentally intoxicated with S. glaucophyllum for 15 or 30 days. Lectin, immunohistochemical and morphometric studies were carried out on Paneth cells from samples of jejunum. SBA, DBA and WGA lectins bound to Paneth cellsgranules in both normal and intoxicated rabbits, with more heterogenity in the labelling of granules from intoxicated rabbits. Paneth cells in both groups were immunonegative for lysosyme. A time and dose-dependent increase in the size and number of Paneth cells was found in both intoxicated groups.We suggest that the changes described in these cells may be directly or indirectly induced by S. glaucophyllum intoxication.
Full Text Available A series of 100 male patients with non-venereal dermatoses of external genitalia were screened amongst patients visiting Dermatology OPD of JIPMER, Pondicherry from Aug â€97 to March â€99. The overall prevalence was found to be 14.1 per 10,000. Non-venereal dermatoses were common in the 21-40 years age group. Most of the patients (74% belonged to labourer class. A total of 25 different non-venereal dermatoses were studied. Genital vitiligo was the most common disorder accounting for 16 cases. Sebaceous cyst of the scrotum was present 13 patients. Among infections and infestations, scabies was observed in 9 patients. Ariboflavinosis was seen in 9 cases. Other disorders encountered were calcinosis scrotum. Iymphangiectasia of the scrotum. Lichen simplex chronicus. Fixed drug eruption, angiokeratoma of Fordyce, lichen sclerosus et atrophicus etc. The study has been quite useful in understanding the clinical and aetiological characteristics of various types of non-veneral dermatoses in males in this subcontinen of Asia.
Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. The transforming growth factor beta has been identified as a major player in the pathogenic process, where low-level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940 nm using millisecond pulsing and continuous wave (CW) modes on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks using a sequential pulsing mode on one elbow and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Considerable functional and morphologic improvements were observed after LLLT, with the best results seen with the pulsing mode. No adverse effects were noted. Pulsed LLLT represents a treatment alternative for osteoarticular signs and symptoms in limited scleroderma (CREST syndrome).
Pagalavan, L; Ong, S G
A six year retrospective study of the demography, clinical and laboratory features of patients with systemic sclerosis (SSc) was carried out in Selayang Hospital. There were 61 cases seen between January 2000 and December 2005. Of these, 55 (90.2%) were females and 6 (9.8%) were males. Twenty-eight (45.9%) were Malays, 24 (39.3%) were Chinese and 9 (14.8%) were Indians. The mean age of onset was 38.8 years. Thirty-nine (64.0%) had limited cutaneous SSc, 21 (34.4%) had diffuse cutaneous SSc and one had localized morphoea. Raynaud's phenomenon was present in 82.6%, telangiectasia in 45.9%, calcinosis in 11.5%, sclerodactyly in 83.6%, digital pitting scars in 42.6%, digital infarcts/ulcers/gangrene in 23.0%, arthralgia/arthritis in 49.2% and gastroesophageal reflux disease (GERD) in 47.5%. Forty-three (70.5%) patients had interstitial lung disease. Seven patients had associated myositis, 7 systemic lupus erythematosus and 2 rheumatoid arthritis. Three had two other connective tissue diseases. Antinuclear antibodies were positive in 83.6% and anti-Scl 70 antibodies in 34.4%. This study demonstrates that limited cutaneous SSc is more common and there is a high incidence of interstitial lung disease in our population. PMID:18705442
Full Text Available Automated abnormal brain detection is extremely of importance for clinical diagnosis. Over last decades numerous methods had been presented. In this paper, we proposed a novel hybrid system to classify a given MR brain image as either normal or abnormal. The proposed method first employed digital wavelet transform to extract features then used principal component analysis (PCA to reduce the feature space. Afterwards, we constructed a kernel support vector machine (KSVM with RBF kernel, using particle swarm optimization (PSO to optimize the parameters C and σ. Fivefold cross-validation was utilized to avoid overfitting. In the experimental procedure, we created a 90 images dataset brain downloaded from Harvard Medical School website. The abnormal brain MR images consist of the following diseases: glioma, metastatic adenocarcinoma, metastatic bronchogenic carcinoma, meningioma, sarcoma, Alzheimer, Huntington, motor neuron disease, cerebral calcinosis, Pick’s disease, Alzheimer plus visual agnosia, multiple sclerosis, AIDS dementia, Lyme encephalopathy, herpes encephalitis, Creutzfeld-Jakob disease, and cerebral toxoplasmosis. The 5-folded cross-validation classification results showed that our method achieved 97.78% classification accuracy, higher than 86.22% by BP-NN and 91.33% by RBF-NN. For the parameter selection, we compared PSO with those of random selection method. The results showed that the PSO is more effective to build optimal KSVM.
Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50
Full Text Available A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia (c.34C>T (p.G1n12X. He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I with hydrocephalus requiring neurosurgical intervention. This was followed by improvement in attaining developmental milestones. Recently, he was diagnosed with growth hormone deficiency. This case suggests the potential association of CM-I with PHP-Ia. Larger studies are needed to assess whether CM-I with hydrocephalus are common associations with PHP-Ia and to define potential genetic links between these conditions. We propose a low threshold in performing brain MRI on PHP-1a patients, especially those with persistent developmental delay to rule out CM-I. Early intervention may improve neurodevelopmental outcomes and prevent neurosurgical emergencies.
胡蓉; 宋联进; 杨扬; 李廷慧; 马慧军
A case of primary multiple miliary osteoma cutis is reported. A 25-year-old female presented with a 5 year history of light-yellow papules in zonal distribution on her parietal scalp. The lesions gradually increased in number and spread to the forehead and lower eyelids. Histopathological study of biopsy showed multiple ossification and calcification foci as well as osteocytes in the dermis. The diagnosis of primary multiple military, osteoma cutis was made. The differential diagnosis includes comedones, sebaceous nevus, plaque-like osteomas cutis and cutaneous calcinosis.%报告1例头部原发性多发性粟粒样皮肤骨瘤.患者女,25岁.因发现右头顶出现呈带状分布的淡黄色丘疹,进行性增多并延及额部和下眼睑 5年来诊.皮损组织病理检查可见真皮内多个骨化伴钙化灶,可见骨细胞.结合皮疹特点诊断为原发性多发性粟粒样皮肤骨瘤.该病临床需要与粉刺、皮脂腺痣、斑块状皮肤骨瘤、皮肤钙质沉着症相鉴别.
Full Text Available Abstract Background CREST (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasias syndrome has been rarely associated with other malignancies (lung, esophagus.This is the first report of a primary adenocarcinoma of the third portion of the duodenum in a patient with CREST syndrome. Case presentation A 54-year-old male patient with CREST syndrome presented with colicky postprandial pain of the upper abdomen, diminished food uptake and a 6-Kg-body weight loss during the previous 2 months. An ulcerative lesion in the third portion of the duodenum was revealed during duodenoscopy, with a diagnosis of adenocarcinoma on biopsy specimen histology. The patient underwent a partial pancreatoduodenectomy. No adjuvant therapy was instituted and follow-up is negative for local recurrence or metastases 21 months postoperatively. Conclusion CREST syndrome has been associated with colon cancer, gastric polyps, familial adenomatous polyposis (FAP syndrome and Crohn's disease; however, this is the first report of a primary adenocarcinoma of the duodenum in a patient with CREST syndrome. However, any etiologic relationship remains to be further investigated.
Full Text Available Patients with marked calcification of the basal ganglia and cerebellum have traditionally been referred to as having Fahr’s disease, but the nomenclature has been criticized for including heterogeneous etiology. We describe 3 patients with idiopathic bilateral striatopallidodentate calcinosis (IBSPDC. The patients were a 24-year-old man with mental deterioration, a 57-year-old man with parkinsonism and dementia, and a 76-year-old woman with dementia and mild parkinsonism. The former 2 patients showed severe calcification of the basal ganglia and cerebellum, and the latter patient showed severe calcification of the cerebellum. We found significantly increased levels of copper (Cu, zinc (Zn, iron (Fe and magnesium (Mg, using inductively coupled plasma mass spectrometry in the CSF of all these 3 patients. The increased levels of Cu, Zn, Fe and Mg reflect the involvement of metabolism of several metals and/or metal-binding proteins during the progression of IBSPDC. More numerous patients with IBSPDC should be examined in other races to clarify the common mechanism of the disease and to investigate the specific treatment.
In 1990, our group began working in the development of a sensitive method to measure the active principle (1,25 dihydroxy-vitamin D3-glycoside) of Solanum glaucophyllum, a plant that grows wild in our country causing calcinosis of breeding cattle. RIA and RRA have been applied to determine this glycoside in the aqueous extracts of the plant leaves and the free vitamin D metabolite in animal plasma samples, respectively. AAS was also used to determine calcium, together with phosphorus determined by colorimetric methods, in blood and tissues of experimental animals in order to study the relationship between the active principle kinetics and its effects. More recently, this plant has been proposed as a source of vitamin D activity (VDA) that might contribute with environment care improving calcium and phosphorus utilization by animals. Our group is by now, as a first step, studying the effects of different diet levels of calcium (Ca) and phosphorus (P) [covering the range between commercial recommendations and half of NRC requirements (1994)], as well as different sources of those minerals, upon productive, nutritional, skeletal and biochemical parameters, in a series of experiments covering either a part or the entire breeding cycle of broilers. We think that the high levels of vitamin D3 employed in commercial farms (4 times NRC recommendations) could enable birds fed on basal diets to enhance the synthesis of the active metabolite of the vitamin in order to overcome partially these minerals deficiency. These methods of analysis have been applied successfully in our research projects contributing to the improvement of animal health and production and our approach has been considered adequate for the study of this additive and therefore has been required by the private industry of foreign countries. (author)
Wu, Meng; Heneghan, John F; Vandorpe, David H; Escobar, Laura I; Wu, Bai-Lin; Alper, Seth L
Genetic deficiency of the SLC26A1 anion exchanger in mice is known to be associated with hyposulfatemia and hyperoxaluria with nephrolithiasis, but many aspects of human SLC26A1 function remain to be explored. We report here the functional characterization of human SLC26A1, a 4,4'-diisothiocyanato-2,2'-stilbenedisulfonic acid (DIDS)-sensitive, electroneutral sodium-independent anion exchanger transporting sulfate, oxalate, bicarbonate, thiosulfate, and (with divergent properties) chloride. Human SLC26A1-mediated anion exchange differs from that of its rodent orthologs in its stimulation by alkaline pHo and inhibition by acidic pHo but not pHi and in its failure to transport glyoxylate. SLC26A1-mediated transport of sulfate and oxalate is highly dependent on allosteric activation by extracellular chloride or non-substrate anions. Extracellular chloride stimulates apparent V max of human SLC26A1-mediated sulfate uptake by conferring a 2-log decrease in sensitivity to inhibition by extracellular protons, without changing transporter affinity for extracellular sulfate. In contrast to SLC26A1-mediated sulfate transport, SLC26A1-associated chloride transport is activated by acid pHo, shows reduced sensitivity to DIDS, and exhibits cation dependence of its DIDS-insensitive component. Human SLC26A1 resembles SLC26 paralogs in its inhibition by phorbol ester activation of protein kinase C (PKC), which differs in its undiminished polypeptide abundance at or near the oocyte surface. Mutation of SLC26A1 residues corresponding to candidate anion binding site-associated residues in avian SLC26A5/prestin altered anion transport in patterns resembling those of prestin. However, rare SLC26A1 polymorphic variants from a patient with renal Fanconi Syndrome and from a patient with nephrolithiasis/calcinosis exhibited no loss-of-function phenotypes consistent with disease pathogenesis. PMID:27125215
ZHANG Da; LU Lin; YANG Hong-bo; LI Mei; SUN Hao; ZENG Zheng-pei; LI Xin-ping; XIA Wei-bo; XING Xiao-ping
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease,which is a disorder with multiple organ involvement,mainly the kidney and liver.It is caused by mutations in the PKHD1 gene.Here,we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing.Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD.The mutations were identified using exome sequencing and confirmed by Sanger sequencing.Results The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes,multiple calcinosis of both kidneys,and multiple dilated bile ducts of the liver.Compound heterozygous PKHD1 gene mutations A979G and G5935A,which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively,were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient.In addition,the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene.Conclusions We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD.Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large.
@@ 1概述 系统性硬化病(systemic sclerosis,SSc)是一种以皮肤变硬和增厚为主要特征的结缔组织病,女性多见,多数发病年龄在30～50岁.根据患者皮肤受累的情况将SSc分为5种亚型:①局限性皮肤型SSc(limited cutaneous SSc):皮肤增厚限于肘(膝)的远端,但可累及面部、颈部.②CREST综合征(CREST syndrome):局限性皮肤型SSc的一个亚型,表现为钙质沉着(calcinosis,C),雷诺现象(Raynaud's phenomenon,R),食管功能障碍(esophageal dysmotility,E),指端硬化(sclerodactylv,S)和毛细血管扩张(telangiectasia,T).③弥漫性皮肤型SSc (diffuse cutaneous SSc):除面部、肢体远端外,皮肤增厚还累及肢体近端和躯干.④无皮肤硬化的SSc(SSc sine scleroderma):无皮肤增厚的表现,但有雷诺现象、SSc特征性的内脏表现和血清学异常.⑤重叠综合征(overlap syndrome):弥漫或局限性皮肤型SSc与其他诊断明确的结缔组织病同时出现,包括系统性红斑狼疮、多发性肌炎/皮肌炎或类风湿关节炎.
Poormoghim, Hadi; Andalib, Elham; Jalali, Arash; Ghaderi, Afshin; Ghorbannia, Ali; Mojtabavi, Nazanin
The aims of the study were to determine prognostic factors for survival and causes of death in a cohort of patients with systemic sclerosis (SSc). This was a cohort study of SSc patients in single rheumatologic center from January 1998 to August 2012. They fulfilled the American College of Rheumatology classification criteria for SSc or had calcinosis Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia or sine sclerosis. Causes of death were classified as SSc related and non-SSc related. Kaplan-Meier and Cox proportional hazard regression models were used in univariate and multivariate analysis to analyse survival in subgroups and determine prognostic factors of survival. The study includes 220 patients (192 female, 28 male). Out of thirty-two (14.5 %) who died, seventeen (53.1 %) deaths were SSc related and in nine (28.1 %) non-SSc-related causes, and in six (18.8 %) of patients causes of death were not defined. Overall survival rate was 92.6 % (95 % CI 87.5-95.7 %) after 5 years and 82.3 % (95 % CI 73.4-88.4 %) after 10 years. Pulmonary involvement was a major SSc-related cause of death, occurred in seven (41.1 %) patients. Cardiovascular events were leading cause of in overall death (11) 34.3 % and 6 in non-SSc-related death. Independent risk factors for mortality were age >50 at diagnosis (HR 5.10) advance pulmonary fibrosis (HR 11.5), tendon friction rub at entry (HR 6.39), arthritis (HR 3.56). In this first Middle Eastern series of SSc registry, pulmonary and cardiac involvements were the leading cause of SSc-related death. PMID:27061806
In 1990 our group began working on the development of a sensitive method to measure the active principle (1,25 dihydroxy-vitamin D3-glycoside) of Solanum glaucophyllum, a plant which grows wild in Argentina and causes calcinosis in breeding cattle. A radioreceptor assay (RRA) was applied to measure the free vitamin D metabolite in the plasma of experimental cows that were fed the plant in order to study the kinetics of the active principle. The 1,25 dihydroxyvitamin D concentration in plasma showed a 33-fold increase four h post treatment. Peak levels were recorded 12 h after dosing, decreased by half between 24-36 h and continued declining until 48 h. More recently, this plant has been proposed as a source of vitamin D activity (VDA) and thereby may contribute to improving Ca and P utilisation by animals and environmental care. The effects of different dietary levels of calcium (Ca) and phosphorus (P) over the range between commercial recommendations (control) and two thirds of NRC requirements (basal) as well as different sources of those minerals were therefore studied in experiments covering either a part or the entire breeding cycle of broilers through measurements of productive, nutritional, skeletal and biochemical parameters. Results indicated that birds fed diets deficient in these minerals exhibited skeletal responses but nevertheless showed better productive responses than those fed control diets. The high levels of vitamin D3 employed in commercial farms (25 times NRC recommendations) could enable birds fed on deficient diets to increase synthesis of the active metabolite of the vitamin in order to partially overcome deficiencies in these minerals. On the other hand, such high levels of vitamin D3 might have been unbalanced for optimal efficiency, at least under the experimental farm conditions of the present work. (author)
Sudip Kumar Ghosh
Full Text Available Background: Systemic sclerosis (SSc is a multisystem connective tissue disorder of uncertain etiology. The clinical picture is frequently dominated by prominent cutaneous manifestations that have diagnostic and prognostic significance. The objective of the present study was to find out the demographic profile and the relative frequencies and characteristics of different mucocutaneous features of SSc in a group of patients from eastern India. In addition, we sought to compare the frequency and pattern of the findings in the limited versus the diffuse variety of the disease. Materials and Methods:This was a cross-sectional, clinical observational study. Consecutive patients of SSc attending the dermatology O.P.D. of a tertiary care hospital of eastern India over 3 years were enrolled to the present study. Results:A total of 46 patients (41 females and 5 males; mean age 29.6±12.3 years of SSc were evaluated. Among mucocutaneous manifestations Raynaud′s phenomenon was present in 39 (84.8% patients. Other cutaneous features included dyspigmentation (40, 86.9%, sclerodactyly (38, 82.6%, inability to open the mouth (38,82.6%, mat-like telangiectasia (11,23.1%, fingertip ulceration and scarring (29,63%, cutaneous calcinosis (1,2.2%, digital gangrene in (2,4.3%, generalized pruritus (4,8.7%, cutaneous small vessel vasculitis (2,4.3%, chronic urticaria (2,4.3%, flexion contractures of the fingers (13,28.3%, and amputation of the digits (3,6.5%. Mucosal changes were observed in 10 (21.7% patients and nail changes were seen in 13 (28.2% patients. Diffuse cutaneous SSc was noted in 27 (58.7% patients and limited cutaneous SSc was seen in the remainder. Thirty-six (78.2% patients tested positive for ANA. Conclusion: The present study provides a snapshot of the spectrum of the demographic and mucocutaneous manifestations of SSc in the eastern Indian population. We have not observed any statistically significant differences between dcSSc and lcSSc in terms
Enas A. M. Khalil
increase in serum total cholesterol and triglycerides accompanied by degenerative changes in aorta and formation of medial calcinosis in some cases, significant decrease in serum testosterone levels associated by germ cells depletion as well as sloughing and degeneration of sperms. In conclusion, fenugreek seeds exhibited antioxidant property could ameliorate the alternations induced in diabetes. This investigation recommended that higher concentrations of debitterized fenugreek seeds may double the regeneration of beta cells in pancreas, further studies would be done in mammals. Fenugreek seed aqueous extract exhibited antioxidant property which ameliorated the biochemical and histopathological alternation induced by alloxan. In conclusion, higher concentrations of debitterized fenugreek seeds can regenerate beta cells in pancreas; further studies would be done in mammals.
Érika C.C. Silva
Full Text Available INTRODUÇÃO: Os bisfosfonatos inibem a reabsorção óssea pela interferência na ação dos osteoclastos. Dentre os efeitos adversos, as linhas escleróticas em metáfise de ossos longos são descritas como principal alteração radiográfica na faixa etária pediátrica. OBJETIVO: Avaliar a frequência de alterações radiográficas causadas pelo alendronato utilizado em crianças e adolescentes com baixa densidade óssea ou calcinose. PACIENTES E MÉTODOS: Foi realizado um estudo do tipo coorte retrospectiva analisando-se prontuários de 21 pacientes que fizeram uso de alendronato semanal por no mínimo 10 meses. Os pacientes realizaram radiografias de ossos longos antes do início do alendronato e aproximadamente um ano após o seu uso. RESULTADOS: Onze pacientes (52,3% apresentaram linhas escleróticas em metáfise dos ossos longos. A localização mais frequente foi em tíbia (8/11 pacientes, seguida de fêmur (7/11, úmero (6/11, rádio (4/11, ulna (3/11 e fíbula (2/11. Nenhum paciente apresentou regress��o das alterações radiográficas durante o tempo de evolução (até 1,1 ano após a suspensão do alendronato. CONCLUSÃO: Se usado com critério, o alendronato é seguro e as alterações radiográficas não mostraram ter um significado mais importante.INTRODUCTION: Bisphosphonates inhibit bone resorption by interfering with the action of osteoclasts. Among the adverse effects, sclerotic lines observed in the metaphysis of long bones have been described as the main imaging finding in pediatric patients. OBJECTIVE: To evaluate the frequency of radiographic changes caused by alendronate in children and adolescents with low bone density or calcinosis. PATIENTS AND METHODS: We conducted a cross-sectional study with 21 patients who were treated with once-weekly alendronate for at least 10 months. Patients underwent x-rays of long bones before the start of alendronate and approximately one year after its use. RESULTS: Eleven patients
Autoanticorpos em esclerodermia e sua associação ao perfil clínico da doença: estudo em 66 pacientes do sul do Brasil Autoantibodies in scleroderma and their association with the clinical profile of the disease: a study of 66 patients from southern Brazil
Thelma Larocca Skare
manifestations of the disease. METHODS: A retrospective study involving 66 patients with scleroderma for the presence of anti-Scl-70, anti-centromere and anti-U1-RNP and of clinical manifestations such as Raynaud's phenomenon, digital micro scars, digital necrosis, telangiectasias, calcinosis, pulmonary fibrosis, pleuritis, pericarditis, cardiomyopathy, arthralgia and arthritis, skin sclerosis, joint contractures, tendon friction rubs, pulmonary hypertension, esophageal disorders and renal crisis. RESULTS: The prevalence of anti-Scl-70 was 17.8% , that of ACA was 33.3% and the prevalence of U1 RNP was 11.8%. Anti-Scl-70 was associated with the diffuse form of the disease (p = 0.015, presence of cardiomyopathies (p = 0.016 and digital micro scars (p = 0.05. Anti-centromere was more common in the limited form, although it was not statistically significant, and had a protective role associated with cardiomyopathies (p = 0.005. Anti-U1-RNP was more common in the overlap forms (p = 0.0004. CONCLUSION: The prevalence and profile of clinical associations of autoantibodies in Brazilian patients with scleroderma are similar to those found in the literature.
Paula A. Fontana
Full Text Available Solanum glaucophyllum (Sg [= S. malacoxylon] is a calcinogenic plant inducing "Enzootic Calcinosis" in cattle. The 1,25-dihydroxyvitamin D3, its main toxic principle, regulates bone and calcium metabolism and also exerts immunomodulatory effects. Thymocyte precursors from bone marrow-derived progenitor cells differentiate into mature T-cells. Differentiation of most T lymphocytes is characterized not only by the variable expression of CD4/CD8 receptor molecules and increased surface density of the T cell antigen receptor, but also by changes in the glycosylation pattern of cell surface glycolipids or glycoproteins. Thymocytes exert a feedback influence on thymic non-lymphoid cells. Sg-induced modifications on cattle thymus T-lymphocytes and on non-lymphoid cells were analysed. Heifers were divided into 5 groups (control, intoxicated with Sg during 15, 30 or 60 days, and probably recovered group. Histochemical, immunohistochemical, lectinhistochemical and morphometric techniques were used to characterize different cell populations of the experimental heifers. Sg-poisoned heifers showed a progressive cortical atrophy that was characterized using the peanut agglutinin (PNA lectin that recognizes immature thymocytes. These animals also increased the amount of non-lymphoid cells per unit area detected with the Picrosirius technique, WGA and DBA lectins, and pancytokeratin and S-100 antibodies. The thymus atrophy found in intoxicated animals resembled that of the physiological aging process. A reversal effect on these changes was observed after suppression of the intoxication. These findings suggest that Sg-intoxication induces either directly, through the 1,25-dihydroxyvitamin D3 itself, or indirectly through the hypercalcemia, the observed alteration of the thymus.Solanum glaucophyllum (Sg [= S. malacoxylon] é uma planta calcinogênica que induz "Calcinose Enzoótica" em bovinos. O 1,25-dihidroxivitamina D3, seu principal agente tóxico, regula o
Robiati, S.; Veltri, A.; Martina, M. C.; Gariazzo, G.; Gandini, G. [Azienda Ospedaliera Sanitaria Giovanni Battista, Ist. di Radiologia dell' Universita' , Turin (Italy); Cerutti, E. [Turin Univ., Turin (Italy). Centro Trapianti Epatici; Ottobrelli, A. [Turin Univ., Turin (Italy). Dipt. di Gastroenterologia
neoplastic infiltrates. Chest CT has relatively uncommon, and sometimes only clinical, indications in post-OLT patients. The technique is chosen based on clinical-radiographic findings. CT proved useful in showing negative cases and in detailing clinical and radiographic findings but must be integrated with clinical findings to define inflammatory and neoplastic conditions. [Italian] L'articolo si propone di valutare il ruolo della TC nelle complicanze toraciche del trapianto del fegato. In 100 dei 567 pazienti sottoposti a trapianto del fegato nel Centro Trapianti Epatici dell'Ospedale S. Giovanni Battista di Torino tra il 1990 e il 1999 (17,6%) sono stati eseguiti esami TC del torace. Di tali indagini sono stati valutati retrospettivamente il numero complessivo, le indicazioni (cliniche e/o poste dal radiogramma di screening), la modalita' di esecuzione, convenzionale (con o senza mdc ev) o con metodica con alta risoluzione (HRCT), i reperti radiologici e la correlazione tra questi ultimi e gli altri dati clinici, broncoscopici e/o laboratoristici. Su 152 studi TC, 45 (29,6%) sono stati effettuati a seguito di indicazioni cliniche, 31 (20,4%) radiografiche, 64 (42,1%) clinico-radiografiche e 12 (7,9%) non chiaramente documentabili; 133/152 (87,5%) esami sono stati eseguiti con metodica tradizionale (100 con mdc ev e 33 senza) e 19/152 (12,5%) con metodica HRCT. Venti/152 (13,2%) indagini in 16 pazienti sono risultate normali; negli altri 84 pazienti, 132/152 (86,8%) TC/HRCT hanno dimostrato complessivamente 247 reperti patologici (99 versamenti pleurici, 3 versamenti pericardici, 62 ipoventilazioni parenchimali marcate, 4 quadri di sovraccarico idrico, 70 addensamenti con aspetto flogistico, di cui 64 prevalentemente alveolari e 6 interstiziali, 8 lesioni di aspetto neoplastico ed una calcinosi polmonare). Correlata con i dati clinici, la TC e' risultata molto accurata nel chiarire i reperti delle indagini di massa clinico-radiografiche, pur presentando