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Sample records for calcinosis

  1. Tumoral calcinosis

    Directory of Open Access Journals (Sweden)

    Rao M

    1995-01-01

    Full Text Available Tumoral calcinosis is an unusual clinical disorder in which large masses of calcium are deposited in the periarticular tissues of the body. The characteristic clinical, radiological and histopathological features of this disorder occurring in three middle aged female patients are reported.

  2. Calcinosis cutis

    OpenAIRE

    Sardesai V; Gharpuray M

    2003-01-01

    A 22-year-old male patient presented with multiple swellings over elbows and knees and a sinus over the right elbow discharging chalky white material. Skin biopsy of the swelling demonstrated calcium deposition in dermis and subcutis. There was no evidence of connective tissue disorder or abnormal mineral metabolism. Hence it was concluded as idiopathic calcinosis cutis and is reported for its interesting presentation.

  3. Idiopathic Calcinosis Cutis over Back

    Directory of Open Access Journals (Sweden)

    Tanveer Shaikh

    2017-04-01

    Full Text Available Calcinosis Cutis is characterized by the deposition of calcium salts in the skin and subcutaneous tissue. Idiopathic Calcinosis Cutis is a rare condition and hence is usually a diagnosis of exclusion. Idiopathic Calcinosis Cutis occurs in the absence of known trauma, inciting agent or metabolic defect. This is a case report of an adult female presenting with Idiopathic Calcinosis Cutis over the back. The exact mechanism of occurrence of this condition is not known. Patients are usually managed with pharmacotherapy, surgery being reserved for those with pain, recurrent infection and impaired function. The lesions are known to recur and a periodic follow-up of these patients is essential.

  4. Calcinosis Cutis and Calciphylaxis.

    Science.gov (United States)

    Jiménez-Gallo, D; Ossorio-García, L; Linares-Barrios, M

    2015-12-01

    Calcinosis cutis (CC) is defined as the deposition of calcium salts in the skin. The condition is divided into 5 types: calciphylaxis and dystrophic, metastatic, idiopathic, and iatrogenic CC. Dystrophic CC is the most common form and usually occurs in association with autoimmune diseases. CC can be treated surgically or with the use of drugs such as diltiazem, bisphosphonates, warfarin, ceftriaxone, probenecid, minocycline, or aluminum hydroxide. Calciphylaxis is defined as calcification of the media of small- and medium-sized blood vessels in the dermis and subcutaneous tissue. Clinically, calciphylaxis causes livedo racemosa, which progresses to retiform purpura and skin necrosis. First-line treatment is with sodium thiosulfate. We present a review of the calcifying disorders of the skin, focusing on their diagnosis and treatment. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

  5. Myocardial Calcinosis a Case Report

    Directory of Open Access Journals (Sweden)

    Naciye Özeren

    2014-07-01

    Full Text Available Myocardial calcification (myocardial calcinosis is a rare condition in the literature. Meta-static or dystrophic calcification can be seen in two types. Chronic renal failure, hemodialysis, sec-ondary hyperparathyroidism, hypercalcemia, the blood calcium level as high phenomena that are associated with metastatic calcification. In dystrophic calcification, normal blood calcium levels, normal kidney functions, normal coronary artery are observed. Myocardial calcification as a result of congestive heart failure, fatal arrhythmias, heart valve dysfunction, myocardial infarction may occur. Case: 35 years old Syrian male. In the civil war in Syria bombing injured as a result, nearly two months in various hospitals and treated for renal failure developing died. Evaluated within the scope of forensic autopsy has been decided. At autopsy; scar tissue due to previous operations, in-ternal examination in both kidneys logy was found the abse formation. Microscopy: Lobular pneu-monia, atelectasis, edema in the lung. Retroperitoneal active chronic inflammation, inflammatory exudate, bleeding, abscesses and abscess wall was detected. The coronary arteries were normal. myocardial more pericardial and myocardial tissue including tissue calcification was found in the common. Renal failure caused by a lack of calcium in blood as myocardial calcinosis was evaluat-ed. These deposits often may actually on the whole body, generally, vessels, kidneys, lungs, interstitial tissues of gastric mucosa holds. Pericardium and in myocardial tissue is extremely rare, interesting case is presented here. Key Words: Hypercalcemia, Calcification, Myocardial.

  6. CASE REPORT Calcinosis cutis universalis – a rare manifestation of ...

    African Journals Online (AJOL)

    . Calcinosis cutis is a well-known phenomenon in a variety of rheumatic conditions, particularly dermatomyositis, scleroderma and CREST. (calcinosis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangiectasia) but is ...

  7. Tumoral calcinosis with vitamin D deficiency

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    Kannan Subramanian

    2008-01-01

    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.

  8. Severe calcinosis cutis in an infant

    Energy Technology Data Exchange (ETDEWEB)

    Puvabanditsin, Surasak; Patel, Jigneshkumar B. [University of Medicine and Dentistry of New Jersey, Department of Pediatrics, Newark, NJ (United States); University of Medicine and Dentistry of New Jersey, Department of Surgery, Newark, NJ (United States); Garrow, Eugene; Titapiwatanakun, Ruetima; Getachew, Rahel [University of Medicine and Dentistry of New Jersey, Department of Pediatrics, Newark, NJ (United States)

    2005-05-01

    We report on an infant with severe asphyxia and persistent pulmonary hypertension as a newborn. The baby received prolonged intravenous calcium gluconate therapy for hypocalcemia. At 5 weeks of age, multiple firm, indurated areas (armor-like lesions) were palpable in the subcutaneous tissues of the trunk, arms, legs, and face, particularly in skin folds. Roentgenographic study showed generalized soft-tissue calcifications throughout the body, extremities, and face. Calcinosis cutis occurs through a variety of pathogenetic mechanisms. Case reports on calcinosis cutis in infants are uncommon, and the calcifications are mostly localized. In our patient, they are generalized. (orig.)

  9. Fahr's syndrome - Idiopathic Bilateral Striopallidodentate Calcinosis ...

    African Journals Online (AJOL)

    Fahr's syndrome - Idiopathic Bilateral Striopallidodentate Calcinosis: a rare cause of seizures in a young African adolescent girl. ... cerebellum.1 The average age at onset of symptoms is 40 to 60 years.2 Hoque et al reported a case of Fahr's disease presenting with epilepsy, an uncommon presentation of this condition, in a ...

  10. Tumoral calcinosis with vitamin D deficiency

    OpenAIRE

    Kannan Subramanian; Ravikumar Latha; Mahadevan Shiraam; Natarajan Mayilvahanan; Satya Anjali; Bhat Rekha; Sriram Usha

    2008-01-01

    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...

  11. ORIGINAL ARTICLE Uraemic tumoral calcinosis in patients on ...

    African Journals Online (AJOL)

    and hyperparathyroidism are thought to be strong risk factors.3,4 High dialysate calcium concentrations are also implicated.1,4 Studies also suggest that uraemic tumoral calcinosis occurs more commonly in patients on haemodialysis for more than 3 years.8. Patients with uraemic tumoral calcinosis may be asymptomatic or.

  12. Uraemic tumoral calcinosis in patients on haemodialysis in the renal ...

    African Journals Online (AJOL)

    The aim of the study was to assess the incidence of uraemic tumoral calcinosis in participants undergoing haemodialysis and to investigate any relationship that might exist between the development of uraemic tumoral calcinosis and the length of time on dialysis. Design. Twenty-four of the 25 patients on haemodialysis at ...

  13. Calcinosis cutis universalis – a rare manifestation of systemic lupus ...

    African Journals Online (AJOL)

    Calcinosis cutis (or skin and subcutaneous calcification) is a feature of a variety of rheumatic conditions (most commonly dermatomyositis and scleroderma), but is rarely reported in systemic lupus erythematosus (SLE ). When calcinosis cutis does occur in patients with SLE, it tends to be localised (circumscripta) rather than ...

  14. CALCINOSIS CUTIS – A SERIES OF 59 CONSECUTIVE CASES ...

    African Journals Online (AJOL)

    2013-04-04

    Apr 4, 2013 ... Nico MMS, Bergonse FN: Subepidermal Calcified. Nodule: Report of Two Cases and Review of the. Literature. Paediatric Dermatology2001; 18(3): 227-229. 7. Murthy DP. Tumoral calcinosis: a study of cases from. Papua New Guinea. J Trop Med Hyg1990; 93(6): 403-7. 8. Jain SP: Tumoral calcinosis in ...

  15. Calcinosis cutis secondary to facial acne vulgaris: A rare complication

    Directory of Open Access Journals (Sweden)

    Srimanta Kumar Sahu

    2015-01-01

    Full Text Available 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.

  16. Unusual Idiopathic Calcinosis Cutis Universalis in a Child

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    Derya Alabaz

    2009-08-01

    Full Text Available Calcinosis cutis is an uncommon disorder characterized by the progressive deposition of crystals of calcium phosphate (hydroxyapatite in the skin in various areas of the body. It is classified into four types according to etiology, namely as dystrophic if calcium and phosphorus levels are normal and tissue damage is present, as idiopathic if calcium and phosphorus levels are normal and no tissue damage is present, or as metastatic if there is hypercalcemia or hyperphosphatemia. Medical and surgical treatments are options to cure calcinosis cutis. Medical therapy is not very effective. Surgical excision has shown to be beneficial, as it can provide a symptomatic relief. However, since calcinosis cutis limits are not always well defined, a recurrence of the lesions may occur. We dealt with a very rare form of calcinosis cutis in a healthy 6-year-old girl. There was no evidence of connective tissue disorder or abnormal mineral metabolism. Hence, she was diagnosed as idiopathic calcinosis cutis and, although calcifications in idiopathic cutis are most commonly localized to one area, our patient unusually exhibited widespread calcific deposits. Although the existing lesions showed slow improvement, systemic pamidronate therapy was effective in preventing the occurrence of new lesions. Surgical excision proved to be an effective and successful treatment. This report aims to raise doctors’ awareness on the presentation, etiopathogenesis, and course of the relatively rare idiopathic calcinosis cutis.

  17. Avid 18F-FDG Uptake in Idiopathic Tumoral Calcinosis Mimicking Lymph Node Metastasis

    DEFF Research Database (Denmark)

    Strandberg, Jesper; Zacho, Helle D

    2017-01-01

    Tumoral calcinosis is a benign condition characterized by periarticular calcified lesions that is frequently observed in patients with chronic renal failure. Tumoral calcinosis often presents with subcutaneous masses and joint swelling. We present a case of tumoral calcinosis with dramatically in...

  18. Suspected systemic calcinosis and calciphylaxis in 5 horses

    Science.gov (United States)

    Tan, Jean-Yin; Valberg, Stephanie J.; Sebastian, Manu M.; Davis, Gordon D.; Kelly, Jenny R.; Goehring, Lutz S.; Harland, Malte M.; Kuebelbeck, K. Leann; Waldridge, Bryan M.; Newton, Joseph C.; Reimer, Johanna M.

    2010-01-01

    Five horses were presented with signs of myopathy along with systemic malaise, hyperfibrinogenemia, hyperphosphatemia, and an elevated calcium phosphorus product (Ca*P). Postmortem findings were consistent with systemic calcinosis, a syndrome of calcium deposition in the tissue of organs including lungs, kidneys, muscle, and heart that has not been previously described in horses. PMID:21119866

  19. Tumoral calcinosis: Report of a case | Ogunlade | African Journal of ...

    African Journals Online (AJOL)

    Tumoral calcinosis is a rare syndrome characterized by massive subcutaneous soft tissues deposits of calcium phosphate near the large joints. We report herein a 20 old boy with calcified lesions bilaterally involving the soft tissue over the greater trochanter. The serum calcium, phosphate and urea were normal.

  20. Fine Needle Aspiration Cytology in Tumoral Calcinosis Cases ...

    African Journals Online (AJOL)

    Calcific deposits in soft tissue are rare and may clinically resemble a tumour. It seems feasible, therefore, to investigate them by the non-invasive technique of fine needle aspiration cytology (FNAC). In this study cases are described in which FNAC was indicative of tumoral calcinosis. Total numbers of cases studied were 18.

  1. Tumoral calcinosis presenting as an extradural mass: MR findings and pathological correlation

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    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)

    2002-09-01

    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.)

  2. Radiological features of progressive tumoral calcinosis in chronic renal failure.

    LENUS (Irish Health Repository)

    Hodnett, P

    2012-02-03

    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.

  3. Ureteral calcinosis in juvenile dermatomyositis: successful precocious surgical management

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    Ricardo J. Duarte

    2006-10-01

    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.

  4. Ultrasonographic findings in two sheep with enzootic calcinosis

    OpenAIRE

    Braun, Ueli; Mitchell, Katharyn J; Schramm, S.; Nogler, S; Hatt, Jean-Michel; Malbon, A

    2016-01-01

    This report describes 2 sheep with enzootic calcinosis characterized by abnormal cardiovascular and respiratory findings and ascites causing abdominal distension. Both sheep were anorexic and listless and had increased heart and respiratory rates. Auscultation of the heart revealed a gallop rhythm in sheep 1 and a loud systolic heart murmur in sheep 2. The activities of liver enzymes were severely increased in both sheep. Abdominal ultrasonography showed severe ascites and congestion of the l...

  5. Calcinosis circumscripta in a captive African cheetah (Acinonyx jubatus

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    Chisoni Mumba

    2014-10-01

    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.

  6. Surgical management of digital calcinosis in CREST syndrome.

    Science.gov (United States)

    Merlino, Giorgio; Germano, Silvia; Carlucci, Salvatore

    2013-12-01

    As a limited form of sclerodermy, CREST syndrome is characterized by calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia, which determine the acronym CREST. Calcinosis is a particularly difficult entity to treat given the paucity of effective options described in the literature. Treatment of finger calcinosis has a wide range of possibilities depending on the extent of calcifications and the involvement of deep structures. From a surgical point of view, whereas simple removal is adequate in minor outpatient cases, a radical debridement in the major and more painful cases seems required. A cover flap is needed particularly in the thumb due to its great functional importance, also if the fingertip is not involved. The authors recommend the kite flap for the dimensions, the tissue quality, and the possibility of giving sensation to the reconstructed area. With this surgical option, the transferred skin is soft, sensate, and the right fit. Usually, no further operations are needed for flap remodeling. The time required for sensory integration is about 2 years, often related to the age of the patient. Debridement and flap reconstruction usually give total resolution of pain, with complete recovery of thumb motion and the thumb-index finger grip.

  7. Calcinosis cutis behandlet med ekstrakorporal shockbølgeterapi

    DEFF Research Database (Denmark)

    Jeppesen, Sune Møller; Yderstræde, Knud Bonnet; Lund, Lars

    2015-01-01

    excision of calcified tissue the patient received extracorporeal shockwave therapy (ESWT). On the basis of excellent healing, partial skin transplant was feasible. We advocate for randomized trials on ESWT as an adjunctive therapy for complex non-healing wounds.......Calcinosis cutis is a rare disease entity characterized by deposits of calcium in the skin and subcutaneous tissue causing hard-to-heal ulcers. This is a case report on a patient with femoral ulcers in connection with densely mineralized skin caused by ketobemidon injections. Next to surgical...

  8. Disproportionately severe calcinosis cutis in an 88-year-old patient with CREST syndrome.

    Science.gov (United States)

    Buchowski, J M; Ahn, N U; Ahn, U M; McCarthy, E F; Mehta, M B

    2001-08-01

    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.

  9. Assessment and Surgical Treatment of Calcinosis of the Shoulder Associated with CREST Syndrome

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    R. Manohara

    2016-01-01

    Full Text Available We report an unusual case of a 65-year-old lady with CREST syndrome with multiple upper and lower limb calcinosis, who presented with severe shoulder pain and stiffness, with widespread intra- and extra-articular calcinosis, which was refractory to conservative measures. We were able to identify the main cause of her symptoms through serial diagnostic injections as calcific biceps tendinosis. We will discuss her assessment and surgical management and the pathophysiology and various treatment modalities for managing the soft tissue calcinosis in rheumatological diseases.

  10. Assessment and Surgical Treatment of Calcinosis of the Shoulder Associated with CREST Syndrome.

    Science.gov (United States)

    Manohara, R; Breusch, S J

    2016-01-01

    We report an unusual case of a 65-year-old lady with CREST syndrome with multiple upper and lower limb calcinosis, who presented with severe shoulder pain and stiffness, with widespread intra- and extra-articular calcinosis, which was refractory to conservative measures. We were able to identify the main cause of her symptoms through serial diagnostic injections as calcific biceps tendinosis. We will discuss her assessment and surgical management and the pathophysiology and various treatment modalities for managing the soft tissue calcinosis in rheumatological diseases.

  11. Calcinosis circumscripta in a common marmoset (Callithrix jacchus jacchus).

    Science.gov (United States)

    Wachtman, Lynn M; Pistorio, Ashley L; Eliades, Steven; Mankowski, Joseph L

    2006-05-01

    A 2.5-y-old, male common marmoset (Callithrix jacchus jacchus) developed a 2-cm, interscapular, subcutaneous mass with variably firm and cystic areas. Radiographs demonstrated a radiodense mass in close proximity to a previously implanted microchip. Fine-needle aspiration yielded a chalky liquid that, on cytologic examination, contained amorphous debris. Aerobic and anaerobic cultures were negative. Surgical excision required extensive dissection, with the mass infiltrating deep to the scapula and extending to the mammary gland. The mass weighed 30 g and comprised 10% of the animal's body weight. Microscopic examination demonstrated multifocal, variably sized, amorphous aggregates of granular, basophilic material (mineral) in the subcutis and extending to skeletal muscle. Mineral deposits were surrounded by macrophages, giant cells, and fibrous connective tissue. A focal area of ectopic bone production was present. Crystallographic analysis and x-ray diffractometry determined the material to be comprised of 100% hydroxyapatite. These findings were consistent with a diagnosis of calcinosis circumscripta. Systemic metabolic abnormalities were excluded based on examination of complete blood count, serum chemistry, and ionized calcium. Calcinosis circumscripta in the common marmoset has not previously been reported, although the lesion has been reported to occur in rhesus macaques and is well described in man and dogs. Accumulation of calcium deposits and production of ectopic bone in a marmoset is interesting in light of this species's unique calcium and vitamin D metabolism.

  12. calcinosis cutis – a series of 59 consecutive cases confined among ...

    African Journals Online (AJOL)

    2013-04-04

    Apr 4, 2013 ... Calcinosis is a condition consisting of massive subcutaneous deposits of ... Methodology: Data was collected from 59 patients who presented with clinical diagnosis ... Surgical treatment: under aseptic technique and local.

  13. Acral post-traumatic tumoral calcinosis in pregnancy: a case report

    Directory of Open Access Journals (Sweden)

    Beverly Mike C

    2011-03-01

    Full Text Available Abstract Introduction Tumoral calcinosis is an uncommon disorder characterized by the development of calcified masses within the peri-articular soft tissues of large joints, but rarely occurs within the hand. Case presentation We present the case of a 31-year-old pregnant Indian woman with a three-month history of painful swelling within the tip of her right middle finger following a superficial laceration. She was otherwise well and had normal serum calcium and phosphate levels. Plain radiography demonstrated a dense, lobulated cluster of calcified nodules within the soft tissues of the volar pulp space, consistent with a diagnosis of tumoral calcinosis. This diagnosis was confirmed on the basis of the histopathological examination following surgical excision. Conclusion To the best of our knowledge, we present the only reported case of acral tumoral calcinosis within the finger, and the first description of its occurrence during pregnancy. We review the etiology, pathogenesis and treatment of tumoral calcinosis.

  14. Idiopathic Calcinosis Cutis over Elbow in a 12-Year Old Child

    Directory of Open Access Journals (Sweden)

    S. K. Venkatesh Gupta

    2013-01-01

    Full Text Available Calcinosis cutis is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin in various parts of the body. Four main types of calcinosis cutis have been recognized according to etiology: associated with localized or widespread tissue changes or damage (dystrophic calcification, that associated with an abnormal calcium and phosphorus metabolism (metastatic calcification, not associated with any tissue damage or demonstrable metabolic disorder (idiopathic calcification, and Iatrogenic. Very few cases of idiopathic calcinosis cutis are reported in early childhood in the literature. We report one such case of idiopathic calcinosis cutis over elbow in a 12-year-old female child. Histological examinations of the lesions resected in this case reveal calcium deposits in the dermis, surrounded by foreign body giant cells. Idiopathic calcinosis cutis is a rare phenomenon and occurs in the absence of known tissue injury or systemic metabolic defect. It is important to delineate it from other calcification disorders for further plan of management. Medical therapy in calcinosis cutis is of limited benefit in pediatric age group and poses a challenging problem of postsurgical management.

  15. Calcinosis preferentially affects the thumb compared to other fingers in patients with systemic sclerosis.

    Science.gov (United States)

    Gauhar, R; Wilkinson, J; Harris, J; Manning, J; Herrick, A L

    2016-07-01

    Although Raynaud's phenomenon often spares the thumb, clinical experience suggests conversely that, in patients with systemic sclerosis (SSc), the thumb is frequently affected by calcinosis (as is demonstrated on plain radiographs). Our aim was to investigate the hypothesis that, in patients with SSc, thumbs are more commonly affected by calcinosis than other digits. Sixty-eight hand radiographs with at least one area of calcinosis were identified. Each digit on both hands of each patient was assigned a severity score on a scale from 0 to 3 (0 = no calcinosis, 3 = most severe). The scoring was completed twice, including and excluding the metacarpals. Right hands were found to be associated with slightly higher scores than left hands [estimate 0.14, 95% confidence interval (CI) 0.03-0.26]. Scores were lower for other fingers compared to thumbs. There was strong evidence (p thumb to the little finger. There was no evidence that the pattern of severity across the fingers was different on left and right hands (p = 0.77). The results were similar whether or not metacarpals were included. The thumb is affected by calcinosis more than other digits, followed by the index finger. This observation provides insight into the pathogenesis of SSc-related calcinosis, which may relate more to repetitive trauma than to ischaemia.

  16. Uraemic tumoral calcinosis in patients on haemodialysis in the renal unit at Dr George Mukhari Hospital, Pretoria

    Directory of Open Access Journals (Sweden)

    F E Suleman

    2010-12-01

    Full Text Available Objective. Uraemic tumoral calcinosis refers to metastatic calcifications that occur rarely on the extensor surfaces of joints in patients undergoing long-term haemodialysis. The aim of the study was to assess the incidence of uraemic tumoral calcinosis in participants undergoing haemodialysis and to investigate any relationship that might exist between the development of uraemic tumoral calcinosis and the length of time on dialysis. Design. Twenty-four of the 25 patients on haemodialysis at the time of the study underwent radiographs of their shoulders and hips to look for calcinosis, which were then read by the researcher and two independent readers to assess for calcinosis. Study setting. Dr George Mukhari Hospital, Pretoria. Results. Eight per cent (N=2 of participants were found to have asymptomatic calcinosis of the hips. No relationship to length of time on dialysis was found. Conclusions. The study was constrained by a small sample size but the presence of calcinosis in 8% of the participants indicates that an extensive study of a larger sample could prove to be useful in determining the true incidence of uraemic tumoral calcinosis in the region. Long-term follow-up could provide more information on the development of calcinosis and length of time on dialysis.

  17. Pharmacological treatment in calcinosis cutis associated with connective-tissue diseases.

    Science.gov (United States)

    Dima, Alina; Balanescu, P; Baicus, C

    2014-01-01

    Dystrophic calcinosis cutis is a common manifestation in connective tissue diseases, but there's still no consensus on treatment. The purpose of this review is to discuss the current pharmacological options of treatment in calcinosis cutis related to rheumatic diseases. We performed an extensive MEDLINE search of articles from 1970 to January 2014 using the index word "calcinosis" and the co-indexing terms "treatment", "calcium channel blocker", "diltiazem", "nifedipine", "verapamil", "amlodipine", "anticoagulant", "warfarin", "bisphosphonate", "etidronate", "pamidronate", "alendronate", "risedronate", "aluminum hydroxide", "probenecid", "antibiotic", "tetracycline", "minocycline", "ceftriaxone", "colchicine", "intravenous immunoglobulin", "sodium thiosulfate", "TNF-alpha inhibitors", "infliximab", "rituximab", "thalidomide", "corticosteroids", "stem cell transplantation". Diltiazem is recommended by some authors as first-line approach in calcinosis cutis and is also the therapeutic principal referred by the largest number of available publications. It seems to be efficient in more than half of the reported cases. There remain, however, a significant number of patients in which another solution must be found. The general trends observed over time are of switching the search of solutions in dystrophic calcinosis cutis related to connective tissue diseases, from therapies on calcium metabolism to therapies for the underlying disease. The new options available in the management of calcinosis cutis, like biological therapies or intravenous immunoglobulin, seem to be promising, but not universally successful. In children with severe forms, hematopoietic stem cell transplantation can also be taken into consideration. Data for all therapies proposed in calcinosis cutis is generally reported in single cases and small case series and so, the existent data is all yielding a low level of evidence.

  18. Efficacy of thalidomide in a girl with inflammatory calcinosis, a severe complication of juvenile dermatomyositis

    Directory of Open Access Journals (Sweden)

    Inayama Yoshiaki

    2010-02-01

    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.

  19. Disproportionately severe calcinosis cutis in an 88-year-old patient with CREST syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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)

    2001-08-01

    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.)

  20. Calcinosis Circumscripta in the Digital Extensor Tendon of a Tawny Eagle (Aquila rapax).

    Science.gov (United States)

    Sabater, Mikel; Carrasco, Daniel Calvo; Huynh, Minh; Homer-Forbes, Neil A; Stidworthy, Mark F

    2016-12-01

    A 9-month-old, captive-bred, female tawny eagle (Aquila rapax) presented with a nonpainful, firm, nodular structure attached to the digital extensor tendon. The mass was surgically resected without complications and was submitted for histopathologic examination. Grossly, cut surfaces of the lesion had chalky-white deposits. Histologically, the resected tissue was identified as calcinosis circumscripta. No recurrence was observed in follow-up after 6 and 12 months. To our knowledge, this is the first case of calcinosis circumscripta in a bird involving a limb extremity, similar to the presentation recognized more commonly in domestic animals. Calcinosis circumscripta should be included in the differential diagnosis list for nodular masses attached to the tendons in birds.

  1. Successful palliation and significant remission of cutaneous calcinosis in CREST syndrome with carbon dioxide laser.

    Science.gov (United States)

    Chamberlain, Alexander J; Walker, Neil P J

    2003-09-01

    There are few satisfactory medical or surgical therapies for cutaneous calcinosis in connective tissue disorders. Carbon dioxide laser vaporization allows precise ablation of superficial dystrophic calcification. This treatment modality was considered because of the severity of our patient's symptoms and failure to respond to various medical therapies. Over a 5-year period, six affected digits received a single treatment with carbon dioxide laser vaporization. Treated digits healed over a 6-week period and led to a significant remission in symptoms. The average remission time for affected digits to date is at least 3 years and has allowed our patient to remain in full-time employment. Carbon dioxide laser vaporization may offer effective remission of symptoms in cutaneous calcinosis of CREST syndrome (including cutaneous calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia).

  2. Solanum torvum as a causative agent of enzootic calcinosis in Papua, New Guinea.

    Science.gov (United States)

    Morris, K M; Simonite, J P; Pullen, L; Simpson, J A

    1979-09-01

    Inclusion of dried powdered leaves of Solanum torvum Swartz (collected in Papua, New Guinea) in the diet of rats induced hypercalcaemai rapidly and hyperphosphataemia more slowly; soft tissue calcification was most evident in the kidney and lung. Solanum torvum may be a causative agent of enzootic calcinosis in cattle in Papua, New Guinea.

  3. Subcutis calcinosis caused by injection of calcium-containing heparin in a chronic kidney injury patient

    Directory of Open Access Journals (Sweden)

    Lilia Ben Fatma

    2014-01-01

    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.

  4. Subcutis calcinosis caused by injection of calcium-containing heparin in a chronic kidney injury patient.

    Science.gov (United States)

    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

    2014-09-01

    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.

  5. CREST Calcinosis Affecting the Lumbar and Cervical Spine and the Use of Minimally-Invasive Surgery.

    Science.gov (United States)

    Faraj, Kassem; Perez-Cruet, Kristin; Perez-Cruet, Mick

    2017-04-08

    Calcinosis in CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome can affect the spinal and paraspinal areas. We present the first case to our knowledge where a CREST syndrome patient required surgery for spinal calcinosis in both the cervical and lumbar areas. A 66-year-old female with a history of CREST syndrome presented with right-sided lower extremity radicular pain. A computed tomography (CT) scan showed bilateral lumbar masses (5.8 cm on the right, 3.8 cm on the left) that projected into the foramina and into the spinal canal. The patient underwent minimally invasive bilateral surgical resection of the paraspinal masses, posterior decompressive laminectomy, posterior interbody, and posterolateral fusion. The specimen was consistent with the calcinosis of CREST syndrome. The patient's lumbar symptoms were relieved, however, two years later she presented with right radicular arm pain. A CT scan revealed a large lobulated benign tumor-like lesion on the left at C6-C7 encroaching upon the neural foramen and a large right lobulated lesion encroaching into the neural foramen with severe compression of the neural foramen at the C7-T1 level and extension into the canal, with anterior and posterior subluxation present throughout the cervical spine. Surgery was performed, which involved cervical mass resections, posterior spinal cord decompression, reconstruction, and fusion. The patient did well and has been symptom-free since her surgery. Calcinosis of the spine is a known entity that can cause morbidity in patients with CREST syndrome. Minimal invasive surgical approaches are effective and can be considered for some of these patients.

  6. [Dystrophic Calcinosis Cutis: a rare fearsome issue of Chronic Kidney Disease].

    Science.gov (United States)

    Cirillo, Luigi; Gallo, Pamela; Errichiello, Carmela; Sorrentino, Annasara; Mehmetaj, Alma; Gregori, Marco; Cannavò, Rossella; Cestone, Giuseppe; Cutruzzulà, Roberta; Dattolo, Pietro Claudio

    2018-02-01

    Disorders of calcium-phosphate-parathormone balance, are very important issues in ESRD patients, that may lead to severe complications, as dystrophic calcinosis cutis, a rare disease, caused by calcium salt deposits in cutaneous or subcutaneous tissues and many organs. We present the case of a 47 years old woman, in ESRD due to membranous glomerulopathy, treated by peritoneal dialysis, who, after 7 months of dialysis, developed painful masses on second finger and fifth metacarpus of the right hand. Laboratory and instrumental data showed hyperparathyroidism with a parathyroid mass consistent with adenoma. Increasing of therapy with phosphate binders and cinacalcet only, was not effective to solve cutaneous masses, that were biopsied. Histological exam revealed deposition of amorphic material with calcific component, consistent with cutaneous dystrophic calcinosis. We further increased dialysis and therapy and we observed complete regression of masses in 2 months. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  7. Tumoral calcinosis in a dog with chronic renal failure : clinical communication

    Directory of Open Access Journals (Sweden)

    T.C. Spotswood

    2003-06-01

    Full Text Available A 2-year-old male German shepherd dog in poor bodily condition was evaluated for thoracic limb lameness due to a large, firm mass medial to the left cranial scapula. Radiography revealed several large cauliflower-like mineralized masses in the craniomedial left scapula musculature, pectoral region and bilaterally in the biceps tendon sheaths. Urinalysis, haematology and serum biochemistry showed that the dog was severely anaemic, hyperphosphataemic and in chronic renal failure. The dog was euthanased and a full post mortem performed. A diagnosis of chronic renal failure with secondary hyperparathyroidism was confirmed. The mineralized masses were grossly and histopathologically consistent with a diagnosis of tumoral calcinosis. Tumoral calcinosis associated with chronic renal failure that does not involve the foot pads is rarely seen.

  8. Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

    OpenAIRE

    Garringer, Holly J.; Malekpour, Mahdi; Esteghamat, Fatemehsadat; Mortazavi, Seyed M. J.; Davis, Siobhan I.; Farrow, Emily G; Yu, Xijie; Arking, Dan E.; Dietz, Harry C.; White, Kenneth E.

    2008-01-01

    Fibroblast growth factor 23 (FGF23) is a hormone required for normal renal phosphate reabsorption. FGF23 gain-of-function mutations result in autosomal dominant hypophosphatemic rickets (ADHR), and FGF23 loss-of-function mutations cause familial hyperphosphatemic tumoral calcinosis (TC). In this study, we identified a novel recessive FGF23 TC mutation, a lysine (K) substitution for glutamine (Q) (160 C > A) at residue 54 (Q54K). To understand the molecular consequences of all known FGF23-TC m...

  9. Metastatic Calcinosis Cutis: A Case in a Child with Acute Pre-B Cell Lymphoblastic Leukemia

    OpenAIRE

    Juan Pablo Castanedo-Cázares; Amalia Reyes-Herrera; Diana Hernández-Blanco; Cuauhtémoc Oros-Ovalle; Bertha Torres-Álvarez

    2015-01-01

    Hypercalcemia in children with malignancy is an uncommon condition. It has been described in leukemia patients with impaired renal excretion of calcium or osteolytic lesions. Metastatic calcinosis cutis (MCC) may develop if hypercalcemia persists. We report the case of a 5-year-old girl with an atypical dermatosis and unspecific gastrointestinal symptoms. Considered clinical diagnoses were xanthomas, histiocytosis, molluscum contagiosum, and nongenital warts. Cutaneous histological analysis s...

  10. Lower extremity lipedema, upper extremity lipodystrophy and severe calcinosis complicating juvenile dermatomyositis.

    Science.gov (United States)

    Pavlov-Dolijanovic, Slavica R; Vujasinovic Stupar, Nada Z; Gavrilov, Nikola; Seric, Srdjan

    2014-11-01

    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.

  11. Dystrophic calcinosis with both a huge calcified mass in the cervical spine and calcification in the chest wall in a patient with rheumatoid overlap syndrome.

    Science.gov (United States)

    Nakamura, Tadashi; Hirakawa, Kei; Takaoka, Hirokazu; Iyama, Ken-Ichi

    2016-05-01

    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.

  12. Resolution of uremic tumoral calcinosis in a patient on peritoneal dialysis with long-term low-calcium dialysate treatment

    Directory of Open Access Journals (Sweden)

    Yaerim Kim

    2014-12-01

    Full Text Available Tumoral calcinosis is a rare complication in uremic patients. An in-depth review of published literature suggests that most patients with uremic tumoral calcinosis do not respond to medical treatment. Here, we report the case of a patient on peritoneal dialysis who presented with infected multifocal masses on both hip joints and was successfully treated by medical intervention. The patient was diagnosed with uremic tumoral calcinosis by physical examination and radiologic imaging, and treated with low-calcium dialysis and a non-calcium phosphate binder, sevelamer, without increasing the dose of dialysis. At the 36-month follow-up, the majority of masses had disappeared and the patient was asymptomatic.

  13. 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

    Energy Technology Data Exchange (ETDEWEB)

    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)

    2006-01-15

    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)

  14. Metastatic Calcinosis Cutis: A Case in a Child with Acute Pre-B Cell Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Juan Pablo Castanedo-Cázares

    2015-01-01

    Full Text Available Hypercalcemia in children with malignancy is an uncommon condition. It has been described in leukemia patients with impaired renal excretion of calcium or osteolytic lesions. Metastatic calcinosis cutis (MCC may develop if hypercalcemia persists. We report the case of a 5-year-old girl with an atypical dermatosis and unspecific gastrointestinal symptoms. Considered clinical diagnoses were xanthomas, histiocytosis, molluscum contagiosum, and nongenital warts. Cutaneous histological analysis showed amorphous basophilic deposits in the dermis suggestive of calcium deposits. Laboratory tests confirmed serum hypercalcemia. Extensive investigations such as bone marrow biopsy established the diagnosis of an acute pre-B cell lymphoblastic leukemia. Hypercalcemia in hematopoietic malignancies is unusual, especially as initial manifestation of the disease. Careful review of the literature fails to reveal previous reports of these peculiar cutaneous lesions of MCC in children with leukemia.

  15. Metastatic Calcinosis Cutis: A Case in a Child with Acute Pre-B Cell Lymphoblastic Leukemia.

    Science.gov (United States)

    Castanedo-Cázares, Juan Pablo; Reyes-Herrera, Amalia; Hernández-Blanco, Diana; Oros-Ovalle, Cuauhtémoc; Torres-Álvarez, Bertha

    2015-01-01

    Hypercalcemia in children with malignancy is an uncommon condition. It has been described in leukemia patients with impaired renal excretion of calcium or osteolytic lesions. Metastatic calcinosis cutis (MCC) may develop if hypercalcemia persists. We report the case of a 5-year-old girl with an atypical dermatosis and unspecific gastrointestinal symptoms. Considered clinical diagnoses were xanthomas, histiocytosis, molluscum contagiosum, and nongenital warts. Cutaneous histological analysis showed amorphous basophilic deposits in the dermis suggestive of calcium deposits. Laboratory tests confirmed serum hypercalcemia. Extensive investigations such as bone marrow biopsy established the diagnosis of an acute pre-B cell lymphoblastic leukemia. Hypercalcemia in hematopoietic malignancies is unusual, especially as initial manifestation of the disease. Careful review of the literature fails to reveal previous reports of these peculiar cutaneous lesions of MCC in children with leukemia.

  16. Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis.

    LENUS (Irish Health Repository)

    Gunawardena, H

    2009-06-01

    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

  17. Metastatic Calcinosis of Aortic Valve Secondary to Renal Failure Mimicking Infective Endocarditis

    Directory of Open Access Journals (Sweden)

    Noman Ahmed Jang Khan

    2016-01-01

    Full Text Available End stage renal disease has a list of consequences, cardiovascular being the most common. Inefficient dialysis can cause significant deposition of calcium all over the body, including heart valves making heart function impaired. We illustrate a case of 38-year-old female with end stage renal disease on peritoneal dialysis. The patient had been complaining of pain and swelling of the right hand for the last few months and had been seen by hand surgeon and was admitted electively for the biopsy of hand lesions. Before her planned surgery, she developed severe shortness of breath. Urgent echocardiogram revealed severe aortic regurgitation and large vegetation on the aortic valve. Infective endocarditis was suspected but blood cultures were negative for any microorganism and the patient did not meet the Duke criteria. Because of her hemodynamic instability immediate mechanical valve replacement surgery was performed. The pathology report showed extensive calcification and myxoid degeneration. No infectious agent was found. Later on, biopsy of her hand lesions showed extensive calcification with macrophages and giant cells. No atypia or malignancy was identified. This is a rare case of the metastatic calcinosis of aortic valve secondary to renal failure mimicking aortic valve infective endocarditis.

  18. Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

    Science.gov (United States)

    Garringer, Holly J.; Malekpour, Mahdi; Esteghamat, Fatemehsadat; Mortazavi, Seyed M. J.; Davis, Siobhan I.; Farrow, Emily G.; Yu, Xijie; Arking, Dan E.; Dietz, Harry C.; White, Kenneth E.

    2008-01-01

    Fibroblast growth factor 23 (FGF23) is a hormone required for normal renal phosphate reabsorption. FGF23 gain-of-function mutations result in autosomal dominant hypophosphatemic rickets (ADHR), and FGF23 loss-of-function mutations cause familial hyperphosphatemic tumoral calcinosis (TC). In this study, we identified a novel recessive FGF23 TC mutation, a lysine (K) substitution for glutamine (Q) (160 C > A) at residue 54 (Q54K). To understand the molecular consequences of all known FGF23-TC mutants (H41Q, S71G, M96T, S129F, and Q54K), these proteins were stably expressed in vitro. Western analyses revealed minimal amounts of secreted intact protein for all mutants, and ELISA analyses demonstrated high levels of secreted COOH-terminal FGF23 fragments but low amounts of intact protein, consistent with TC patients' FGF23 serum profiles. Mutant protein function was tested and showed residual, yet decreased, bioactivity compared with wild-type protein. In examining the role of the FGF23 COOH-terminal tail (residues 180–251) in protein processing and activity, truncated mutants revealed that the majority of the residues downstream from the known FGF23 SPC protease site (176RXXR179/S180) were not required for protein secretion. However, residues adjacent to the RXXR site (between residues 188 and 202) were required for full bioactivity. In summary, we report a novel TC mutation and demonstrate a common defect of reduced FGF23 stability for all known FGF23-TC mutants. Finally, the majority of the COOH-terminal tail of FGF23 is not required for protein secretion but is required for full bioactivity. PMID:18682534

  19. Progressive interstitial renal fibrosis due to Chinese herbs in a patient with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome.

    Science.gov (United States)

    Nishimagi, E; Kawaguchi, Y; Terai, C; Kajiyama, H; Hara, M; Kamatani, N

    2001-10-01

    A 58-year-old woman with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome presented with slowly progressive renal dysfunction. She was normotensive with normal plasma renin activity and lacking symptoms of vasculitis. Mild proteinuria was of tubular origin, but serological tests and an absence of sicca symptoms excluded the possibility of Sjögren's syndrome. Light microscopic study of renal biopsy showed interstitial fibrosis with ectasia and degeneration of proximal tubule and lymphocyte infiltration. There were no remarkable changes in the glomeruli. Chromatographic analysis of the Chinese herbs regimen that she had been taking for several years demonstrated aristolochic acid. She was diagnosed as Chinese herbs nephropathy. Therapy with oral prednisolone was markedly effective in improving renal function and anemia. To our knowledge, this is the first report of Chinese herbs nephropathy complicating connective tissue disease. It is important to consider the possibility of Chinese herbs nephropathy when patients treated with Chinese herbs develop renal dysfunction.

  20. Frequência elevada de calcinose em dermatomiosite juvenil: estudo de fatores de risco High frequency of calcinosis in juvenile dermatomyositis: a risk factor study

    Directory of Open Access Journals (Sweden)

    Gleice Clemente

    2012-08-01

    Full Text Available OBJETIVO: Avaliar a frequência de calcinose em pacientes com dermatomiosite juvenil, bem como estudar possíveis fatores de risco para essa manifestação. MÉTODOS: Revisão de prontuários de 34 pacientes, com ênfase nas características demográficas, clínicas e laboratoriais, tipo de tratamento e adesão, tipo de evolução (monocíclico, crônico e policíclico e gravidade da doença. Os pacientes foram separados em grupos: aqueles que desenvolveram calcinose (até o sexto mês de acompanhamento ambulatorial e após seis meses de acompanhamento e os que não desenvolveram calcinose. Vinte e sete pacientes fizeram dois exames de capilaroscopia periungueal (CPU, os quais foram considerados alterados quando era encontrado padrão escleroderma. RESULTADOS: A média de idade de início dos sintomas dos 34 pacientes foi de 6,5 anos, e o tempo até o diagnóstico foi de 1,2 anos. Setenta por cento eram meninas. Metade dos pacientes teve curso monocíclico da doença, e apenas 14,7% tiveram vasculite grave. Quase 90% dos pacientes que realizaram CPU tiveram alteração na primeira avaliação, e 74% tiveram alteração na segunda avaliação, com uma média de 1,6 anos entre as duas. Dezesseis (47,1% pacientes apresentaram calcinose. Não houve associação entre as variáveis analisadas e o desenvolvimento da calcinose. CONCLUSÃO: Não conseguimos demonstrar a presença de fatores de risco para calcinose, apesar de termos encontrado uma frequência dessa complicação em cerca de metade dos pacientes com dermatomiosite juvenil.OBJECTIVE: To assess the frequency of calcinosis in patients with juvenile dermatomyositis, and the possible risk factors for that manifestation. METHODS: Medical record review of 34 patients, with an emphasis on the following characteristics: demographic, clinical and laboratory data; type of treatment; adherence to treatment; disease course (monocyclic, chronic and polycyclic; and disease severity. Patients were

  1. Primary sclerosing cholangitis associated with CREST (calcinosis, Raynaud phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) in an elderly woman: a case report.

    Science.gov (United States)

    Powell, Alice; McNeil, Julian

    2015-11-25

    CREST (calcinosis, Raynaud phenomenon, oesophageal dysmotility, sclerodactyly, and telangiectasia) syndrome comprising calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia and primary sclerosing cholangitis are both chronic fibrotic diseases but the association between them is extremely rare. While primary sclerosing cholangitis has been associated with diffuse cutaneous scleroderma, the association with limited cutaneous scleroderma or CREST has not been previously reported in the literature. This case report illustrates the association between CREST and primary sclerosing cholangitis. We report the case of an 84-year-old Asian woman with a long history of CREST who was admitted with abdominal pain, fatigue and progressive derangement of her liver enzymes. This was initially thought to be secondary to her bosentan therapy for pulmonary hypertension but it persisted despite bosentan being ceased. Primary sclerosing cholangitis was subsequently diagnosed on magnetic resonance cholangiopancreatography and she was referred to a hepatologist for treatment. This case highlights the need to consider primary sclerosing cholangitis in patients with CREST who present with abdominal symptoms and deranged liver enzymes when other causes have been excluded. Relevant differential diagnoses for this presentation, which can be difficult to exclude, include immunoglobulin G4-associated cholangitis and antimitochondrial antibody negative primary biliary cirrhosis. It is of particular significance to rheumatologists and gastroenterologists but has broader relevance to all medical specialists involved in the care of patients with CREST.

  2. Mucocele of the appendix in a 77-year-old man with calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly and telangiectasias syndrome

    Directory of Open Access Journals (Sweden)

    Hanen Loukil

    2016-08-01

    Full Text Available Mucocele is an uncommon pathology of the vermiform appendix estimated to be seen in 0.2-0.3%. The term mucocele means dilation of the appendix due to mucus, caused either by a benign or a malignant process. Herein, we report the case of a 77-year-old man with Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly and Telangiectasias syndrome, a limited form of Scleroderma, who had presented an abdominal cyclical pain and in which abdominopelvic computed tomography scan concluded to the diagnosis of appendiceal mucocele. Surgery and histopathology confirmed the diagnosis of mucinous cystadenoma. This association appendiceal mucocele and scleoderma has not been previously reported. The clinical and radiological features of this unusual complication are reviewed.

  3. Hybrid Single-Photon Emission Computed Tomography/Computed Tomography Imaging Features of Tumoral Calcinosis in Technetium-99m Methylene Diphosphonate Bone Scintigraphy.

    Science.gov (United States)

    Kamaleshwaran, Koramadai Karuppusamy; Asokumar, Premkumar; Malaikkal, Anjali; Mohanan, Vyshakh; Shinto, Ajit Sugunan

    2015-01-01

    Tumoral calcinosis (TC) is an uncommon ectopic calcification syndrome. TC is a 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 TC. We report a case of year old female with. She underwent bone scintigraphy to see the sites of involvement, which showed intense foci of tracer activity in soft tissue in bilateral thigh and gluteal region. Hybrid single-photon emission computed tomography/computed tomography of the pelvis and thigh localized tracer uptake to the calcification in the gluteal and thigh region.

  4. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

    Science.gov (United States)

    Dumitrescu, Claudia E.; Kelly, Marilyn H.; Khosravi, Azarmindokht; Hart, Thomas C.; Brahim, Jaime; White, Kenneth E.; Farrow, Emily G.; Nathan, Muriel H.; Murphey, Mark D.; Collins, Michael T.

    2008-01-01

    Introduction Familial tumoral calcinosis (FTC) and hyperostosis-hyperphosphatemia syndrome (HHS) are caused by mutations in FGF23, GALNT3, or KLOTHO. They are characterized by hyperphosphatemia, increased phosphate reabsorption, and elevated or inappropriately normal serum 1, 25-dihydroxyvitamin D3 (1,25-D); FTC is associated with calcific masses, and HHS with diaphyseal hyperostosis. Methods A 36-year-old woman presented with abnormal dental x-rays at age 12, and was hyperphosphatemic at 22. She underwent radiographic, biochemical and genetic testing, and medical treatment. Results Serum phosphorus was 7.3 mg/dl (2.5-4.8), TmP/GFR 6.99 mg/100 ml (2.97-4.45), 1,25-D3 35 pg/ml (22-67). Radiographs revealed tooth anomalies, thyroid cartilage calcification, calcific masses in vertebral spaces, calcification of the interstitial septae of the soft tissue in the lower extremities, and cortical thickening of the long bones. Her total hip Z-Score was 1.9. C-terminus serum FGF23 was 1210 RU/ml (20-108), but intact FGF23 was 7.4 pg/ml (10-50). DNA sequencing determined she was a compound heterozygote for mutations in GALNT3. Treatment with niacinamide and acetazolamide decreased TmP/GFR and serum phosphate, which was paralleled by a decrease in serum C-terminus FGF23. Conclusions This case broadens the spectrum of phenotypic and genotypic features of FTC/HHS, and suggests treatments to decrease renal phosphate reabsorption in the setting of a low intact FGF23. PMID:18982401

  5. Ocular involvement in tumoral calcinosis

    Directory of Open Access Journals (Sweden)

    Harsha Bhattacharjee

    2014-01-01

    Full Text Available We report a 32-year-old male who presented with blurring of vision in the right eye since 1.5 years. He had history of swelling over the extensor surfaces of large joints which were migratory in nature. Few of them spontaneously subsided following suppuration of chalky white discharges except over the gluteal region. Ophthalmological examination revealed visual acuity of counting fingers (CF at 1 m in the right eye and perilimbal conjunctival calcific deposits and retinal angiod streaks in both eyes. There was choroidal neovascular membrane with subretinal hemorrhage in right eye, confirmed by fundus fluorescein angiography (FFA and optical coherence tomography (OCT. B scan ultrasonography and simultaneous vector A scan detected calcification of the subretinal neovascular membrane and the adjoining sclera.

  6. 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

    Directory of Open Access Journals (Sweden)

    Gláucio R. Werner de Castro

    2004-02-01

    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.

  7. CASE REPORT Calcinosis cutis universalis – a rare manifestation of ...

    African Journals Online (AJOL)

    She was pale, had muscle weakness, was tender around most joints and demonstrated ... renal function was normal but urine dipstix demonstrated proteinuria, and a renal biopsy confirmed class 3 lupus nephritis. ... around the shoulder and in the breast and back (Fig. 3). The soft tissue calcifications noted on the other ...

  8. Tumoral calcinosis: Report of a case | Ogunlade | African Journal of ...

    African Journals Online (AJOL)

    African Journal of Biomedical Research. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 5, No 1-2 (2002) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should load ...

  9. Dystrophic calcinosis in a child with a thumb sucking habit: case report

    Directory of Open Access Journals (Sweden)

    Giovannini Cesar Abrantes Lima de Figueiredo

    2000-10-01

    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.

  10. Treatment of cutaneous calcinosis in CREST syndrome by extracorporeal shock wave lithotripsy.

    Science.gov (United States)

    Sparsa, Agnès; Lesaux, Nicolas; Kessler, Emmanuel; Bonnetblanc, Jean-Marie; Blaise, Sophie; Lebrun-Ly, Valérie; Colombeau, Pierre; Vidal, Elisabeth; Bédane, Christophe

    2005-11-01

    We describe the unusual case of a 78-year-old woman consulting for extensive and painful wound leg ulcerations and calcifications secondary to CREST syndrome that was treated by extracorporeal shock wave lithotripsy. This treatment was considered because of the severity of our patient's symptoms and her failure to respond to various medical and surgical treatment.

  11. CALCINOSIS CUTIS METASTÁSICA: CALCIFILAXIS (ARTERIOLOPATÍA URÉMICA CALCIFICADA. A PROPÓSITO DE UN CASO. [METASTATIC CALCINOSIS CUTIS: CALCIPHYLAXIS (CALCIFIED UREMIC ARTERIOLOPATHY. A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Lourdes Bolla de Lezcano

    2013-07-01

    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.

  12. ANA (Antinuclear Antibody Test)

    Science.gov (United States)

    ... polymyositis Centromere pattern (peripheral)—associated with scleroderma and CREST (Calcinosis, Raynaud syndrome, Esophogeal dysmotility, Sclerodactyly, Telangiectasia) A positive result from ...

  13. Genetics Home Reference: familial idiopathic basal ganglia calcification

    Science.gov (United States)

    ... loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An ... N, Hirose G. Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ...

  14. Race, Income, and Disease Outcomes in Juvenile Dermatomyositis.

    Science.gov (United States)

    Phillippi, Kathryn; Hoeltzel, Mark; Byun Robinson, Angela; Kim, Susan

    2017-05-01

    To determine the relationships among race, income, and disease outcomes in children with juvenile dermatomyositis (JDM). Data from 438 subjects with JDM enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Legacy Registry were analyzed. Demographic data included age, sex, race, annual family income, and insurance status. Clinical outcomes included muscle strength, presence of rash, calcinosis, weakness, physical function, and quality of life measures. Disease outcomes were compared based on race and income. Minority subjects were significantly more likely to have low annual family income and significantly worse scores on measures of physical function, disease activity, and quality of life measures. Subjects with lower annual family income had worse scores on measures of physical function, disease activity, and quality of life scores, as well as weakness. Black subjects were more likely to have calcinosis. Despite these differences in outcome measures, there were no significant differences among the racial groups in time to diagnosis or duration of disease. Using calcinosis as a marker of disease morbidity, black race, annual family income 12 months were associated with calcinosis. Minority race and lower family income are associated with worse morbidity and outcomes in subjects with JDM. Calcinosis was more common in black subjects. Further studies are needed to examine these associations in more detail, to support efforts to address health disparities in subjects with JDM and improve disease outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Medical image of the week: subcutaneous calcification in dermatomyositis

    Directory of Open Access Journals (Sweden)

    Natt B

    2016-12-01

    Full Text Available A 36-year old woman was referred to our Interstitial Lung Disease (ILD clinic for evaluation of dyspnea. A high-resolution CT scan of the chest showed perivascular reticular and ground glass opacities with air trapping, consistent with non-specific interstitial pneumonitis (Figure 1. She was diagnosed with connective tissue associated ILD. On review of previous images extensive subcutaneous calcifications were seen (Figure 2. Calcinosis is an uncommon manifestation of dermatomyositis in adults (1. It is usually seen around areas of frequent trauma like the hands and elbows. In her case, a pelvic inflammatory disease may have been a trigger for this calcinosis. Calcinosis is a difficult complication to treat with some success seen with diltiazem, aluminum hydroxide, and even alendronate in children. Surgical excision may be required in some cases.

  16. Juvenile Dermatomyositis in a Nigerian Girl

    African Journals Online (AJOL)

    Prof Ezechukwu

    dysphonia and inability to walk or sit. Prior to referral, she was being .... skin lesion and prevention and management of short term and long term ... ultrasonography findings, including affected muscle, nail fold capillaroscopy, presence of calcinosis, and dysphonia. The index patient had fulfilled almost all the above criteria ...

  17. Unique Juxtaposition of Onchocerca Nodule and Tumoural ...

    African Journals Online (AJOL)

    A 45-year-old Igbo man presented with a subcutaneous nodule in the lateral aspect of his left thigh. Following its excision, the lesion turned out on microscopy to be due to the unique juxtaposition of onchocerca nodule and tumoural calcinosis. Such selectivity in disease localization is deemed to be worthy of documentation ...

  18. Watermelon-stomach og sklerodermi

    DEFF Research Database (Denmark)

    Diederichsen, Axel Cosmus Pyndt; Rasmussen, Jens Møller

    2002-01-01

    We report here a 72-year-old man with severe, persistent, iron deficiency anaemia. Upper gastrointestinal endoscopy revealed red stripes radiating to the pylorus, characteristic of watermelon stomach (gastric antral vascular ectasia). The patient was found to have scleroderma with calcinosis...

  19. Download this PDF file

    African Journals Online (AJOL)

    and secondary hyperparathyroidism and tumoral calcinosis. (TC). Among these conditions, TC remains a poorly understood disease in which either solitary or multiple benign calcifications are usually found near large joints, without any involvement of the synovium itself or the adjacent bone in patients with normal serum ...

  20. Musculoskeletal manifestations in diabetic patients at a tertiary center

    African Journals Online (AJOL)

    2012-10-29

    Oct 29, 2012 ... in association with limited joint mobility in the absence of Raynaud phenomenon, calcinosis, and telangiectasia. 3) CTS was defined as weakness or pain of the hand, evidence of thenar atrophy, or nocturnal paresthesia of the thumb, index, and long fingers, with or without a positive Tinel's or Phalen's sign.

  1. CREST Syndrome - a Limited Form of Systemic Scleroderma: a Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Paravina Mirjana

    2015-09-01

    Full Text Available Systemic scleroderma (SSc is a multisystem disease with microvascular abnormalities, autoimmune disorders, excessive collagen production and deposition, and fibrosis of the skin and internal organs. According to the simplest, though incomplete classification, there are two forms of SSc: diffuse and limited (formerly acrosclerosis. CREST syndrome is a subtype of limited SSc, characterized by: calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. We present a patient with all the features of the CREST syndrome, which appeared at the age of 43 and lasted for 23 years. The patient presented with a gradual development of symptoms during the first ten years, from Raynaud’s phenomenon, skin sclerosis, calcinosis, telangiectasia, and esophageal dysmotility. The diagnosis was based on clinical findings and relevant diagnostic procedures. The article presents a literature review on the epidemiology, etiology, pathophysiology, clinical manifestations, various attempts at classification, diagnostic criteria, and therapeutic modalities.

  2. Calcified Vocal Cord Nodule – A Unique Case Report

    OpenAIRE

    Sundarapandian, S.; Suresh, Revathy V

    2014-01-01

    Vocal cord nodules are benign neoplastic lesions which occur due to submucosal oedema and haemorrhage, leading to fibrosis and hyalinization. Calcification in vocal cord nodules has not been reported so far in literature. It is thought to be a laryngeal counterpart of idiopathic calcinosis cutis. Here, we are reporting a case of a 38-year-old male patient who presented with a change in voice, which had a duration of one month. Laryngoscopic examination revealed a globular, yellowish white, se...

  3. Anticentromere antibody in patients without CREST and scleroderma: association with active digital vasculitis, rheumatic and connective tissue disease.

    OpenAIRE

    Goldman, J A

    1989-01-01

    This paper looks at the problem confronting a doctor evaluating a patient with anticentromere antibody who does not have evidence of disease along the spectrum from CREST (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) to progressive systemic sclerosis. Of 33 people with anticentromere antibody, 21 had CREST and two had scleroderma. Of the other 10 with a positive anticentromere antibody, three had systemic lupus erythematosus (two with digital vascu...

  4. Skin changes in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Joanna M. Przepiórka-Kosińska

    2017-04-01

    Full Text Available Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney function (dialysis therapy or kidney transplantation also leads to the resolution of skin lesions.

  5. Atrofia do timo em bovinos intoxicados por Solanum glaucophyllum

    OpenAIRE

    Fontana, Paula A.; Zanuzzi, Carolina N.; Barbeito, Claudio G.; Gimeno, Eduardo J.; Portiansky, Enrique L.

    2009-01-01

    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 ...

  6. Nodular regenerative hyperplasia of the liver, CREST syndrome and primary biliary cirrhosis: an overlap syndrome?

    OpenAIRE

    McMahon, R F; Babbs, C; Warnes, T. W.

    1989-01-01

    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...

  7. The diagnostic quandary of hereditary haemorrhagic telangiectasia vs. CREST syndrome.

    Science.gov (United States)

    Lee, J B; Ben-Aviv, D; Covello, S P

    2001-10-01

    The distribution and clinical appearance of the telangiectasia in the CREST syndrome (calcinosis, Raynaud's phenomenon, oesophageal involvement, sclerodactyly, telangiectasia) and hereditary haemorrhagic telangiectasia (HHT) are very similar. Several previously reported cases of the CREST syndrome simulating HHT illustrate this diagnostic quandary. We report a patient who met the diagnostic criteria for both the CREST syndrome and HHT, and discuss the distinguishing features of the two diseases, including the distinctive histopathological findings of telangiectasia in HHT.

  8. Patterns of development and abnormalities among tadpoles in a constructed wetland receiving treated wastewater.

    Science.gov (United States)

    Ruiz, Alina M; Maerz, John C; Davis, Andrew K; Keel, M Kevin; Ferreira, Andrew R; Conroy, Michael J; Morris, Lawrence A; Fisk, Aaron T

    2010-07-01

    Constructed wetlands are promoted for effectiveness at treating wastewater and potential value as wildlife habitat; however, wildlife performance studies in treated wastewater wetlands are limited. We used repeated surveys of larval amphibians along three wetland systems and four reference sites to test the hypothesis that bullfrog tadpoles exposed to direct inputs of treated wastewater develop slower, show a higher frequency of abnormalities, and are smaller at metamorphosis compared to tadpoles from reference ponds. Bullfrog tadpoles from wastewater wetlands were similar in size at metamorphosis compared to tadpoles from reference sites; however, they did show a much higher frequency of abnormalities including severe edema, scoliosis, and extreme calcinosis of soft tissues. Calcinosis was novel to the literature on amphibian abnormalities, the most frequent abnormality, and restricted exclusively to treatment wetlands. Within the constructed wetlands, tadpole development was slower and the frequency of scoliosis and calcinosis was higher in those cells receiving direct inputs of treated wastewater. Our results suggest that portions of constructed wetlands that directly receive treated wastewater may be poor amphibian habitat.

  9. Dystrophic calcifications and Raynaud’s phenomenon in an eight-year old girl

    Directory of Open Access Journals (Sweden)

    Grebeldinger Slobodan P.

    2014-01-01

    Full Text Available Introduction. Dystrophic calcifications are the most common subtype of skin calcinosis. Tumorous soft tissue calcium deposits usually contain hydroxyapatite and amorphous calcium phosphate. Differential diagnosis of skin calcinosis encompasses Thibierge-Weissenbach syndrome, systemic sclerosis, scleroderma, CREST syndrome (calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia, dermatomyositis, systemic lupus erythematosus, ad myositis ossificans progressiva. Case Outline. We present the case of an eight-year old girl with tumorous soft tissue calcium deposits and Raynaud’s phenomenon. At the age of 3.5 years, our patient was admitted to Pediatric Surgery Clinic because of bilateral acrocyanosis localized at the fingertips area of hands, with the signs of vascular trauma. Therapy with vasodilators and hyperbaric oxygen treatment were completed. This therapy resulted in improvement. At the age of eight, the patient was admitted again due to intermittent, painful cramps localized in both hands. Punctiform deposits were present at the tips of fingers and toes, which looked like calcifications and were spontaneously eliminated, with the remnants of crater-shaped defects. A hard tumorous deformity localized in soft tissue was present in the extensor area of the right elbow. Laboratory indicators of inflammation were within the reference values, and antinuclear antibodies were positive. A nodus localized at the right elbow was extirpated. Pathohistological findings: connective and fat tissue with large deposits of calcium. Conclusion. Further follow-up of our patient is necessary due to possible development of complete picture of CREST syndrome or systemic sclerosis.

  10. Effects of plant induced hypervitaminosis D on cutaneous structure, cell differentiation and cell proliferation, in cattle

    OpenAIRE

    Costa, Enrique F.; Portiansky, Enrique Leo; Massone, Adriana R.; Marino, F. P.; Idiart, Julio Roberto; Gimeno, Eduardo Juan

    1998-01-01

    El «duraznillo blanco» (Solanum glaucophyllum, sinónimo S. malacoxylon) es el agente causal de la calcinosis enzoótica, una enfermedad caracterizada por la calcificación de los tejidos blandos. La planta es altamente tóxica para los bovinos y produce considerables pérdidas económicas en la Argentina, Brasil, Paraguay y Uruguay. En el resto del mundo se han encontrado otras plantas calcinogénicas que originan enfermedades similares. S. glaucophyllum contiene altos niveles de 1,25 dihidroxivita...

  11. Tumoral calcinoses in bone scanning: A case study

    Energy Technology Data Exchange (ETDEWEB)

    Cook, P. [Royal Prince Alfred Hospital, Sydney, NSW (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: Tumoral calcinosis (TC) is a rare disorder characterised by hyperphosphateamia, normocalceamia and calcified para-articular masses as seen on X-ray. At present, an inborn error of phosphorous metabolism is accepted as the primary cause. Symptoms include pain, swelling, infection and single- or multi-focal lesions. Radionuclide imaging was recently described as the most reliable and simplest method for detection, localisation and assessment of the calcific masses. Bone scintigraphy may demonstrate unsuspected masses even when clinical examination is negative. It is also useful in assessing the effects of surgery and therapy. A 55-year-old male with an 18-year history of TC presented to our department on two occasions. He was first referred to assess the extent of his calcinosis. He had known involvement of the hands, shoulders and pelvis, with little restriction of movement. He had a 6-8 year history of polio which was currently stable. Seven years later he again presented to our department, this time for the evaluation of a suspected fractured hip. On both occasions 800 MBq of {sup 99}mTc-MDP was injected IV and whole body and planar images were obtained at three hours. In the second study, additional dynamic and blood pool images were obtained over the anterior aspect of both hips. Both scans were grossly abnormal and typical of the appearance of widespread TC or calcinosis universalis. Multiple areas of extra osseous uptake involving subcutaneous tissue and muscle of the hands, para-articular regions of both elbows, shoulders and hips were seen and confirmed by X-ray. Localised abnormalities were noted involving left lower neck, left forearm and left foot. Marked progression of the disease was seen in the region of the left shoulder on the second scan. No abnormalities were noted within the skeleton itself. Neither the dynamic nor blood pool phase of the study demonstrated significant hyperaemia in the region of the left proximal femur. Although the

  12. An Update on the Treatment of the Cutaneous Manifestations of Systemic Sclerosis: The Dermatologist's Point of View.

    Science.gov (United States)

    Vitiello, Magalys; Abuchar, Adriana; Santana, Néstor; Dehesa, Luis; Kerdel, Francisco A

    2012-07-01

    Systemic sclerosis is a connective tissue disorder that affects multiple organs. Although the initial symptoms of the disease are vascular, skin involvement is almost universally present in patients with systemic sclerosis. The presence of Raynaud's phenomenon, progressive thickening of the skin, digital ulcers, and calcinosis all correlate proportionally with disease severity. Since no treatment is available to completely prevent the natural course of the disease, emphasis is often placed on managing symptoms and complications. In this review, the authors focus on the management of each one of the skin manifestations seen in systemic sclerosis, as the dermatologist may facilitate the early recognition and treatment of these complications.

  13. An Update on the Treatment of the Cutaneous Manifestations of Systemic Sclerosis

    Science.gov (United States)

    Vitiello, Magalys; Abuchar, Adriana; Santana, Néstor; Dehesa, Luis

    2012-01-01

    Systemic sclerosis is a connective tissue disorder that affects multiple organs. Although the initial symptoms of the disease are vascular, skin involvement is almost universally present in patients with systemic sclerosis. The presence of Raynaud's phenomenon, progressive thickening of the skin, digital ulcers, and calcinosis all correlate proportionally with disease severity. Since no treatment is available to completely prevent the natural course of the disease, emphasis is often placed on managing symptoms and complications. In this review, the authors focus on the management of each one of the skin manifestations seen in systemic sclerosis, as the dermatologist may facilitate the early recognition and treatment of these complications. PMID:22798974

  14. Livedo reticularis and bowel ischemia after carbon dioxide arteriography in a patient with CREST syndrome.

    Science.gov (United States)

    Johnson, Philip L; Neperud, Julie; Arnold, Jill; Thomas, James

    2011-03-01

    For 30 years, CO(2) gas has been used as a safe alternative to iodinated contrast agents for angiography in patients with renal insufficiency or allergy to iodine. CO(2) angiography is well tolerated when performed properly, and serious complications are rare. However, severe complications may occur if the physical properties of CO(2) and the specific pathophysiology of an individual patient are not carefully considered. The present report describes a case in which diffuse livedo reticularis, bowel ischemia, and renal insufficiency developed following CO(2) angiography in a patient with CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia). Copyright © 2011 SIR. Published by Elsevier Inc. All rights reserved.

  15. Sporadic hemiplegic migraine and CREST syndrome.

    Science.gov (United States)

    Grecco, Martin Pablo; Pieroni, Miguel; Otero, Marcela; Ferreiro, Jorge Luis; Figuerola, María de Lourdes

    2010-04-01

    Hemiplegic migraines are characterised by attacks of migraine with aura accompanied by transient motor weakness. There are both familial and sporadic subtypes, which are now recognised as separate entities by the International Classification of Headache Disorders, edition II (ICHD-II). The sporadic subtype has been associated with other medical conditions, particularly rheumatological diseases. We report the case of a woman with sporadic hemiplegic migraine associated with CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia). Since there is a close relationship between migraine and Raynaud's phenomenon, it could be speculated that the sporadic hemiplegic migraines in our patient might be secondary to CREST syndrome.

  16. Tinea Incognita in a Patient with Crest Syndrome: Case Report.

    Science.gov (United States)

    Gorgievska-Sukarovska, Biljana; Skerlev, Mihael; Žele-Starčević, Lidija

    2015-01-01

    Tinea incognita is a dermatophytic infection that is difficult to diagnose, usually modified by inappropriate topical or systemic corticosteroid therapy. We report an extensive case of tinea incognita caused by the zoophilic dermatophyte Trichophyton mentagrophytes (var. granulosa) in a 49-year-old female patient with CREST (Calcinosis; Raynaud phenomenon; Esophageal involvement; Sclerodactyly; Teleangiectasia) syndrome. Immunocompromised patients, as well as patients with keratinization disorders, seem to be especially susceptible to dermatophytic infections with atypical clinical presentation that is sometimes bizarre and difficult to recognize. Therefore, close monitoring and mycological skin examination is recommended in order to avoid misdiagnosis and to give the patient the best chance of recovery.

  17. Primary biliary cirrhosis accompanied by CREST syndrome.

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    Kouraklis, Gregory; Glinavou, Andromahi; Karatzas, Gabriel

    2002-09-01

    CREST syndrome, a relatively benign, slowly progressive variant of systemic scleroderma consists of calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Although the association of this syndrome with primary biliary cirrhosis (PBC) is recognized in women, it has never been described in a man. We report the rare case of a male patient with CREST syndrome accompanied by PBC, manifested by acute cholecystitis and mild jaundice. The association of the two conditions is clinically and etiologically important. Clinicians must be aware of this association, sincethe clinical features of CREST syndrome may be mild and may be thought to be complications of the underlying liver disease.

  18. Pulmonary edema caused by inhaled nitric oxide therapy in two patients with pulmonary hypertension associated with the CREST syndrome.

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    Preston, Ioana R; Klinger, James R; Houtchens, Jeanne; Nelson, David; Mehta, Sangeeta; Hill, Nicholas S

    2002-02-01

    Pulmonary arterial hypertension (PAH) is commonly associated with the CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) syndrome. Inhaled nitric oxide (iNO) is often used to assess acute vasoresponsiveness in patients with PAH, and reports of adverse reactions have been infrequent. We describe two of nine patients with PAH and CREST syndrome who had pulmonary edema develop during acute iNO testing. This complication was not encountered in the 46 patients with other forms of PAH tested with iNO. We suggest that iNO should be used with caution, if at all, to test acute vasoreactivity in patients with CREST syndrome.

  19. Nodular regenerative hyperplasia of the liver, CREST syndrome and primary biliary cirrhosis: an overlap syndrome?

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    McMahon, R F; Babbs, C; Warnes, T W

    1989-01-01

    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 cirrhosis (PBC) and recently nodular hyperplasia of the liver has been reported in patients with early stage PBC. We present a case of NRHL with CREST syndrome and serological and biochemical features of PBC, a newly recognised overlap syndrome. Images Figure PMID:2583572

  20. Small lymphocytic lymphoma in a patient with CREST syndrome.

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    William, Basem M; Harbert, Tracey; Ganti, Apar K; Bierman, Philip J

    2011-01-01

    We report a case of a 61-year-old man with a history of CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) who presented for evaluation of thrombocytopenia. He had evident cervical adenopathy and lymph node biopsy showed small lymphocytic lymphoma (SLL) with evident systemic adenopathy and bone marrow involvement. The patient achieved a complete remission with FCR (fludarabine/cyclophosphamide/rituximab) chemotherapy. About 30 cases of lymphomas are reported in the literature in association with systemic sclerosis. To our knowledge, there are no reports of a small lymphocytic lymphoma (SLL) in association with limited cutaneous systemic sclerosis with classic features of the CREST syndrome.

  1. [Anatomic incidence of meniscochondrocalcinosis of the knee].

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    Mitrovic, D; Stankovic, A; Morin, J; Borda-Iriarte, O; Uzan, M; Quintero, M; Memin, Y; Bard, M; de Sèze, S; Richewaert, A

    1982-06-01

    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.

  2. Radiographic changes of the distal phalanx tuft of the hands in subjects with systemic sclerosis. Systematic review.

    Science.gov (United States)

    Izquierdo, Yojhan Edilberto; Calvo Páramo, Enrique; Castañeda, Luisa María; Gómez, Sandra Viviana; Zambrano, Fernán Santiago

    2016-10-13

    To determine abnormal plain radiograph findings of the distal phalanx tuft of the hand (DPTH) associated with systemic sclerosis in adults. A systematic review was developed following the parameters of the PRISMA guidelines in databases: MEDLINE, EMBASE, BIREME, Scielo, Google Scholar and others including as primary outcomes alterations of DPTH (erosions, resorption, sclerosis and proliferation) detected by simple radiography in subjects with systemic sclerosis. The prevalence of radiographic findings was synthesized using the fixed effects model. The statistical associations were expressed in terms of relative risk or odds ratio with their respective confidence intervals and p values. Twenty-two observational studies were included; the prevalence of DPTH resorption was 28.3% (95% CI: 0.256-0.312; p < .001); I(2)=80.4%, the prevalence of calcinosis was 15.6% (95% CI: 0.113-0.210; p < .001); I(2)=0%. No study reported proliferation or erosions and only one study described sclerosis of DPTH in 5 individuals. Resorption and calcinosis of DPTH are the characteristic radiographic findings in patients with systemic sclerosis. However, new studies with greater methodological strength are needed to establish associations between these phenomena and their presence in other connective tissue diseases. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  3. Pulsed vs. CW low level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome)

    Science.gov (United States)

    Barolet, Daniel

    2012-03-01

    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.

  4. Microstructure and mineral composition of dystrophic calcification associated with the idiopathic inflammatory myopathies.

    Science.gov (United States)

    Eidelman, Naomi; Boyde, Alan; Bushby, Andrew J; Howell, Peter G T; Sun, Jirun; Newbury, Dale E; Miller, Frederick W; Robey, Pamela G; Rider, Lisa G

    2009-01-01

    Calcified deposits (CDs) in skin and muscles are common in juvenile dermatomyositis (DM), and less frequent in adult DM. Limited information exists about the microstructure and composition of these deposits, and no information is available on their elemental composition and contents, mineral density (MD) and stiffness. We determined the microstructure, chemical composition, MD and stiffness of CDs obtained from DM patients. Surgically-removed calcinosis specimens were analyzed with fourier transform infrared microspectroscopy in reflectance mode (FTIR-RM) to map their spatial distribution and composition, and with scanning electron microscopy/silicon drift detector energy dispersive X-ray spectrometry (SEM/SDD-EDS) to obtain elemental maps. X-ray diffraction (XRD) identified their mineral structure, X-ray micro-computed tomography (microCT) mapped their internal structure and 3D distribution, quantitative backscattered electron (qBSE) imaging assessed their morphology and MD, nanoindentation measured their stiffness, and polarized light microscopy (PLM) evaluated the organic matrix composition. Some specimens were composed of continuous carbonate apatite containing small amounts of proteins with a mineral to protein ratio much higher than in bone, and other specimens contained scattered agglomerates of various sizes with similar composition (FTIR-RM). Continuous or fragmented mineralization was present across the entire specimens (microCT). The apatite was much more crystallized than bone and dentin, and closer to enamel (XRD) and its calcium/phosphorous ratios were close to stoichiometric hydroxyapatite (SEM/SDD-EDS). The deposits also contained magnesium and sodium (SEM/SDD-EDS). The MD (qBSE) was closer to enamel than bone and dentin, as was the stiffness (nanoindentation) in the larger dense patches. Large mineralized areas were typically devoid of collagen; however, collagen was noted in some regions within the mineral or margins (PLM). qBSE, FTIR-RM and SEM

  5. Effectiveness and safety of oxycodone/naloxone in the management of chronic pain in patients with systemic sclerosis with recurrent digital ulcers: two case reports

    Directory of Open Access Journals (Sweden)

    Ughi N

    2016-03-01

    Full Text Available Nicola Ughi, Chiara Crotti, Francesca Ingegnoli Division of Rheumatology, Department of Clinical Sciences and Community Health, Gaetano Pini Institute, The University of Milan, Milan, Italy Abstract: Digital ulcers (DUs are a severe and frequent clinical feature of patients with systemic sclerosis (SSc. The presence of DUs may cause severe pain and often lead to impairment of patient’s functional activities and health-related quality of life. Moreover, poor patient cooperation during the wound care procedure due to pain may be associated with a negative outcome of DU healing. Therefore, pain management has a key role in patients with SSc. These two case reports describe the effectiveness and safety of oxycodone/naloxone in patients with SSc complicated by painful chronic DUs. Such a therapy has provided pain relief and consequently an increased compliance during redressing wounds. Keywords: oxycodone, naloxone, systemic sclerosis, pain, digital ulcer, scleroderma, analgaesia, wound healing, opioids, calcinosis, UCLA-SCTC GIT 2.0

  6. Childhood dermatomyositis recurring in adulthood half a century later.

    Science.gov (United States)

    Ismajli, M; Nikiphorou, E; Young, A

    2013-09-02

    A 62-year-old woman presented to the emergency department with malaise, lethargy and proximal muscle weakness. She had a similar presentation in childhood. A muscle biopsy was inconclusive, however, she was treated for a presumptive diagnosis of inflammatory myositis. In a second flare in childhood, she developed proximal muscle weakness and calcinosis cutis. A muscle biopsy was consistent with juvenile dermatomyositis. She was treated with corticosteroids, however, she relapsed again 1 year later, requiring a prolonged course of corticosteroids, which led to remission and treatment was subsequently stopped. She remained well for 30 years without any relapses, however, at the age of 40 she was diagnosed with malignant melanoma, treated with local excision and radiotherapy. She had a further period of 22 years in good health, until her current presentation, with a relapse of dermatomyositis, 52 years after the last flare. She is currently in remission following successful immunosuppressive therapy.

  7. FIELD STUDY OF THE PREVALENCE OF LAMENESS IN HORSES IN THREE PROVINCES OF IRAN

    Directory of Open Access Journals (Sweden)

    A.T. Naeini and B. T. Niak

    2005-07-01

    Full Text Available A population of 364 show jumper horses was examined for signs of lameness in three province of Iran, i.e., Tehran, Isfahan and Fars. The basis of the survey was the inability of the horse to take part in jumping exercise. The diagnosis of lameness was performed using appropriate methods of visual and physical examination, aided by nerve blocking and radiographic examination. In 364 horses, included cases of hygroma, very short heel, tendonitis, fissure in the hoof, navicular syndrome, laminitis, white line disease, splints, sore shine, side bone, ring bone, tumoral calcinosis, sheard heel, incorrect shoeing and wind puff. This suggests that the diagnosis, therapy and prophylaxis of lameness merit a high priority in research efforts to reduce wastage among valubale show jumper horses.

  8. Lower limb ischaemia in patients with diabetic foot ulcers and gangrene: recognition, anatomic patterns and revascularization strategies.

    Science.gov (United States)

    Mills, Joseph L

    2016-01-01

    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. Copyright © 2016 John Wiley & Sons, Ltd.

  9. Benefits of molecular pathology in the diagnosis of musculoskeletal disease : Part II of a two-part review: bone tumors and metabolic disorders.

    Science.gov (United States)

    Flanagan, Adrienne M; Delaney, David; O'Donnell, Paul

    2010-03-01

    The second part of this review, on the benefits of molecular pathology in the diagnosis disease, focuses on the genetics of bone tumors and metabolic disease. Unlike soft tissue tumors, the number of currently exploitable molecular abnormalities for diagnosing bone neoplasms is small, although the same gene rearrangements are found in primitive neuroectodermal tumor/Ewing sarcoma in both skeletal and extraskeletal sites. Compared with soft tissue tumors, genetic abnormalities, which are valuable to diagnosticians in skeletal disease, are often germline and post-zygotic aberrations rather than somatic translocations. In addition, the review highlights the range of disease entities classified as "osteoclast-rich lesions," some of which harbor germline mutations. It also addresses the importance of phosphate metabolism in skeletal disorders including phosphaturic mesenchymal tumor, vitamin D-resistant rickets, and tumoral calcinosis.

  10. Arthroscopic treatment of chronically painful calcific tendinitis of the rectus femoris.

    Science.gov (United States)

    Peng, Xu; Feng, Yong; Chen, Guangxing; Yang, Liu

    2013-11-23

    Relatively large calcific tendinitis with persistent symptoms after extended periods of conservative treatment is an indication for operative therapy. Arthroscopy, as a treatment for calcific tendinitis of the hip abductors and calcinosis circumscripta, has been described previously; however, to our knowledge, the clinical and radiological response to arthroscopic removal of calcific tendinitis of the rectus femoris tendon has not. We present arthroscopic treatment of unusual calcific tendonitis of the origin of the rectus femoris and associated intra-articular lesions in 3 patients with chronic coxa pain. Our cases show that hip arthroscopy is an effective therapeutic modality for calcific tendinitis of the hip joint with satisfactory short-term outcomes. Calcific tendinitis, although an uncommon clinical entity, should be a part of the differential diagnosis of acute or chronic hip pain.

  11. Previously undescribed pulpal and periodontal ligament calcifications in systemic sclerosis: a case report.

    Science.gov (United States)

    Jung, Sophie; Minoux, Maryline; Manière, Marie-Cécile; Martin, Thierry; Schmittbuhl, Matthieu

    2013-04-01

    Systemic sclerosis (SSc), a multisystem autoimmune disease characterized by widespread fibrosis, vascular alterations, autoimmunity, and inflammation, has effects on the hard and soft tissues of the orofacial region. The most common oral radiographic features correspond to widening of the periodontal ligament space and to mandibular resorption. In this report, cone-beam computerized tomography (CBCT) confirmed not only the well described periodontal features associated with SSc but also revealed previously undescribed calcifications within the periodontal ligament space of most maxillary teeth. Moreover, CBCT showed pulp calcifications in some incisors and premolars with these calcifications leading to root canal obliterations. Such manifestations (which could be linked to different major pathogenic features of SSc such as calcinosis, vasculopathy, and fibrosis) contribute to the phenotypic spectrum of the disease. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Pituitary-dependent hyperadrenocorticism in a terrier dog: A case report

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    Mahdieh Rezaei

    2016-06-01

    Full Text Available 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.

  13. Idiopathic infantile arterial calcification in a 12-year-old girl presenting as chronic mesenteric ischemia: imaging findings and angioplasty results

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    Zhang, Edwin; Owen, Richard [University of Alberta, Department of Radiology and Diagnostic Imaging, Edmonton (Canada); Bruce, Garth [University of Saskatchewan, Department of Pediatrics, Royal University Hospital, Saskatoon (Canada); Wiebe, Sheldon [University of Saskatchewan, Department of Medical Imaging, Royal University Hospital, Saskatoon (Canada)

    2011-11-15

    We report an unusual case of chronic mesenteric ischemia presenting in a 12-year-old girl with idiopathic infantile arterial calcinosis (IIAC). This is the first reported case in the literature of chronic mesenteric ischemia in the setting of IIAC. The girl presented with a classical history of postprandial abdominal pain. Imaging demonstrated significant stenoses of the celiac axis, superior mesenteric artery (SMA) and inferior mesenteric artery (IMA). Angioplasty of the celiac axis and SMA was attempted, with successful dilation of the SMA only. At 3-, 6- and 12-month follow-ups, the child's symptoms had almost resolved. This case report has three important ramifications: chronic mesenteric ischemia is a possible clinical presentation in children with IACC, pre-angioplasty imaging is important in guiding treatment approach, and angioplasty was effective in this case of chronic mesenteric ischemia and offers hope for other similarly affected children. (orig.)

  14. [CREST syndrome and pulmonary hypertension: a dark prognosis].

    Science.gov (United States)

    Carneiro, Ana C; Barbosa, Isabel P; Chaves, F Carneiro

    2004-01-01

    The CREST syndrome initially described as a limited, more indolent form of diffuse scleroderma, is characterized by calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. Subsequent studies showed that visceral abnormalities were not uncommon. Pulmonary abnormalities are frequent especially pulmonary hypertension, this one being a major cause of this syndrome's mortality. The authors present the case of white woman, 61 years old , with dyspnoea, cyanosis and peripheral edema with 12 months of evolution. She was admitted for pulmonary thromboembolism suspicion. After investigation the diagnosis of CREST syndrome was made, associated with severe pulmonary hypertension. The patient was treated with varfarina, nicorandil, nifedipine, furosemide and home oxygen. She died 3 months after. The authors discuss the diagnosis, treatment and follow-up.

  15. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. [CREST syndrome].

    Science.gov (United States)

    Meyer, Olivier

    2002-05-01

    CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).

  17. Multiple cerebral aneurysms in a patient with CREST syndrome.

    Science.gov (United States)

    Masuoka, Jun; Murao, Kenichi; Nagata, Izumi; Iihara, Koji

    2010-08-01

    Systemic sclerosis (SSc) associated with cerebral aneurysm is rare. We describe a patient with multiple cerebral aneurysms with the calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia (CREST) variant of SSc. A 61-year-old woman with a 20-year history of CREST syndrome was incidentally found to have four cerebral aneurysms located at the C2, C3 and C5 segments of the right internal carotid artery (ICA) and the C2 segment of the left ICA. The bilateral C2 segment aneurysms were successfully clipped using 2-stage surgery. To date, intracranial aneurysms have been reported in only two other patients with CREST syndrome. We hypothesize that the pathogenesis of the aneurysm is related to CREST syndrome. Elucidating the true incidence of cerebral aneurysms associated with CREST syndrome would help to clarify the relationship between SSc-related autoantibodies and aneurysm formation. Copyright 2010 Elsevier Ltd. All rights reserved.

  18. Bilateral infusion pump implants as therapy for refractory corneal ulcers in a patient with CREST syndrome: an interdisciplinary approach.

    Science.gov (United States)

    De Andrés, José; García-Delpech, Salvador; Pérez, Vicente Luis Villanueva; Díaz-Llopis, Manuel; Udaondo, Patricia; Sánchez, María Teresa Serrano; Salom, David

    2008-07-01

    Internal infusion pumps are implantable and programmable systems that have been widely used for years in the management of chronic pain. During the past few years, these devices have had an increasingly prominent role given the possibility of insulin infusions in patients with diabetes mellitus because they provide patients with higher autonomy in the management of their disease, despite the fact that they are expensive systems and require surgery for implantation. These features make internal infusion pumps a suitable therapeutic option for those patients who need to use artificial tears continuously because of severe dry eyes. We report a case of severe eye pain due to xerophthalmia in a patient with CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome who was treated with an implanted pump reservoir.

  19. Primary localized cutaneous nodular amyloidosis and CREST syndrome: a case report and review of the literature.

    Science.gov (United States)

    Summers, Erika M; Kendrick, Christina G

    2008-07-01

    Primary localized cutaneous nodular amyloidosis (PLCNA) is a form of primary localized cutaneous amyloidosis (PLCA) that presents as yellowish waxy nodules on the extremities, face, trunk, or genitalia. We report the case of a patient with PLCNA and CREST (calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. A diagnosis of her extensive PLCNA was made after biopsy specimens from the bilateral shins stained positive for amyloid extending from the superficial papillary dermis to the subcutis. Results of a workup were negative for paraproteinemia or signs of systemic amyloidosis and have remained so after 8 years of follow-up. We present a review of the literature describing the presentation and histopathology of the varying forms of amyloidosis.

  20. A case of acute autoimmune hepatitis presenting after incomplete-type CREST syndrome and chronic thyroiditis.

    Science.gov (United States)

    Himoto, Takashi; Nomura, Takako; Tani, Joji; Miyoshi, Hisaaki; Morishita, Asahiro; Yoneyama, Hirohito; Kurokohchi, Kazutaka; Kushida, Yoshio; Watanabe, Seishiro; Masaki, Tsutomu

    2014-09-01

    A 55-year-old woman was admitted to our hospital with acute hepatitis of unknown origin. She had a history of incomplete-type CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and chronic thyroiditis approximately 10 years earlier. Although she achieved spontaneous remission without treatment, she was re-admitted 18 months later due to recurrent liver dysfunction. Liver biopsy was performed as we strongly suspected autoimmune hepatitis despite her normal serum immunoglobulin G level. Liver biopsy findings were histologically compatible with autoimmune hepatitis, and administering prednisolone (30 mg/day) led to a prompt recovery of her liver dysfunction. No relapse occurred during the tapering of prednisolone to a maintenance dose of 5 mg/day. Here we report a rare case of autoimmune hepatitis in a patient with a history of incomplete-type CREST syndrome and chronic thyroiditis.

  1. Isolated Rheumatoid Nodules: A Diagnostic Dilemma

    Directory of Open Access Journals (Sweden)

    Michael Gale

    2015-01-01

    Full Text Available We present a 27-year-old male with multiple nonpainful soft tissue masses over several metacarpals, bilateral elbows, the left wrist, and both knees since the age of 4. Physical exam was significant for firm, nonmobile, nodular growths over the extensor surfaces of bilateral elbows and knees and on the 2nd and 5th metacarpal phalangeal joints. Laboratory studies revealed an unremarkable rheumatoid factor, negative ANA screening and normal joint radiographs. Differential diagnosis included subcutaneous granuloma annulare (SGA, seronegative rheumatoid nodule, and calcinosis cutis. Biopsy is the only method to distinguish benign rheumatoid nodules from SGA. This case illustrates the importance of biopsy in diagnosis, an awareness of the potential complications, and the need for good follow-up.

  2. Medical image of the week: CREST plus ILD

    Directory of Open Access Journals (Sweden)

    Oliva I

    2013-06-01

    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.

  3. [Morphology of the kidneys in arterial hypertension of adrenal genesis (according to biopsy findings)].

    Science.gov (United States)

    Poliakova, G A; Bezuglova, T V; Garagezova, A R

    2002-01-01

    67 renal biopsies obtained in the course of adrenalectomy from patients with primary hyperaldosteronism, hypercorticism and pheochromocytoma were studied. Sclerotic affection of the arterioles and renal interstitium were found in long lasting adrenal arterial hypertension. This may cause residual postoperative hypertension. Endocrine nephropathy in primary hyperaldosteronism due to hypopotassemia and alcalosis manifests with vacuolar distrophy and atrophy of the epithelium, dilatation of tubular lumen, intratubular calcinosis and tubulointerstitial nephritis. Primary hyperaldosteronism was characterized by hypoplasia of the juxtaglomerular apparatus (JGA) but in massive spironolacton therapy signs of enhanced renin-secreting function of the glomerular efferent arteriola may be observed. In hypercorticism pyelonephritis is rather frequent. In patients with pheochromocytoma hypercatecholaminemia may result in JGA activation this being particularly evident in renal artery stenosis. Recurrent hypertension after pheochromocytoma removal in the absence of renal pathology may indicate recurrent tumor or missed second tumor.

  4. Forty years abuse of baking soda, rhabdomyolysis, glomerulonephritis, hypertension leading to renal failure: a case report.

    Science.gov (United States)

    Forslund, Terje; Koistinen, Arvo; Anttinen, Jorma; Wagner, Bodo; Miettinen, Marja

    2008-01-01

    We present a patient who had ingested sodium bicarbonate for treatment of alcoholic dyspepsia during forty years at increasing doses. During the last year he had used more than 50 grams daily. He presented with metabolic alkalosis, epileptic convulsions, subdural hematoma, hypertension and rhabdomyolysis with end stage renal failure, for which he had to be given regular intermittent hemodialysis treatment. Untreated hypertension and glomerulonephritis was probably present prior to all these acute incidents. Examination of the kidney biopsy revealed mesangial proliferative glomerulonephritis and arterial wall thickening causing nephrosclerosis together with interstitial calcinosis. The combination of all these pathologic changes might be responsible for the development of progressive chronic renal failure ending up with the need for continuous intermittent hemodialysis treatment.

  5. Clinical and autoantibody profile in systemic sclerosis: baseline characteristics from a West Malaysian cohort.

    Science.gov (United States)

    Sujau, Ibrahim; Ng, Chin Teck; Sthaneshwar, Pavai; Sockalingam, Sargunan; Cheah, Tien Eang; Yahya, Fariz; Jasmin, Raja

    2015-05-01

    To evaluate the clinical and antibody profile of systemic sclerosis (SSc) in a Malaysian cohort. Consecutive patients with SSc in University Malaya Medical Centre from March to November 2012 were included in this study. In addition to clinical characterization, all subjects underwent autoantibody testing using Euroline immunoblot assay. The association between clinical features and autoantibody profile was evaluated. There were 31, predominantly Chinese (45.2%), subjects. Limited cutaneous disease was the most common subtype (71%). Raynaud's phenomenon was the most commonly observed feature (83.9%). Nine (29%) had esophageal dysmotility symptoms and 23 (74.2%), including all patients with diffuse SSc, had symptoms of gastro-esophageal reflux disease (GERD). Restrictive pattern on pulmonary function test and evidence of lung fibrosis were seen in more than 70% of patients. Echocardiographic evidence of pulmonary arterial hypertension was seen in 58.1%. Telangiectasia, calcinosis, digital ulcers, digital pulp loss or pitting were seen more commonly in the diffuse subtype. The two most prevalent autoantibodies were anti-Scl-70 and anti-Ro-52. The presence of anti-Scl-70 was significantly associated with restrictive lung disease (P = 0.05). Anti-Ro-52 was associated with control subjects with other autoimmune diseases (P = 0.043). The presence of anti-PM-Scl-75 was associated with overlap syndrome (P = 0.032). Patients with anticentromere antibodies were more likely to have vasculitic rash (P = 0.012). In Malaysia, SSc most commonly affects the Chinese. Limited cutaneous is more common than diffuse subtype. Features of CREST (calcinosis, Reynaud disease, esophageal dysmotility, sclerodactyly, telangiectasia) are more commonly observed in the diffuse cutaneous subgroup. Anti-Scl-70 and anti-Ro-52 antibodies are promising biomarkers for pulmonary involvement in SSc. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  6. A STUDY OF MUCOCUTANEOUS MANIFESTATIONS IN AUTOIMMUNE CONNECTIVE TISSUE DISORDERS AT TERTIARY CARE CENTRE

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    Manisha Jethwa

    2017-06-01

    Full Text Available BACKGROUND Our aim was to study the clinical and immunological profile of patients with newly detected connective tissue disease presented to a tertiary care centre. MATERIALS AND METHODS The study involved 51 patients with newly-detected Systemic Lupus Erythematosus (SLE (fulfilling the revise SLICC criteria for SLE and Systemic Sclerosis (SS, Mixed Connective Tissue Disease (MCTD, etc. attending Sir. T. Hospital, Bhavnagar, between January 2013 and December 2016. All patients were assessed for clinical features and immunological profile. RESULTS Out of the 51 patients, 30 having SLE, 10 having SS, 9 with MCTD, 1 with dermatomyositis and 1 with Rowell’s syndrome. Among them, 47 were females and 4 were males. The mean age at presentation was between 15-25 years. The LE-specific skin lesions were noted as malar rash in 25 patients (83%, subacute and acute lupus rashes (80% and discoid rash (13%. Among LE-nonspecific lesions, non-scarring alopecia was most common followed by oral ulcers, Raynaud’s phenomenon, joint pain, scarring alopecia, erythema multiforme, livedo reticularis, vasculitic lesions, urticaria and calcinosis cutis were seen. In MCTD, muscle weakness was common finding. In systemic sclerosis, hide-bound skin and decreases mouth opening were seen in all cases and Raynaud’s phenomenon, joint pain, hair loss, calcinosis cutis and respiratory system involvement were other features. Serum ANA was positive in 76% while negative in 3.8% of individuals. The most common pattern observed in ANA profile was speckled (56% followed by homogenous (32% and nucleolar (28%. CONCLUSION There is diversity in clinical presentation of autoimmune connective tissue disease with regards to their genetic and environmental backgrounds. Cutaneous features are utmost important having diagnostic and prognostic value as well.

  7. Scleroderma skin ulcers definition, classification and treatment strategies our experience and review of the literature.

    Science.gov (United States)

    Giuggioli, Dilia; Manfredi, Andreina; Lumetti, Federica; Colaci, Michele; Ferri, Clodoveo

    2018-02-01

    Skin ulcers (SU) are one of the most frequent manifestations of systemic sclerosis (SSc). SSc-SU are very painful, often persistent and recurrent; they may lead to marked impairment of patient's activities and quality of life. Despite their severe impact on the whole SSc patient's management, the proposed definition, classification criteria, and therapeutic strategies of SSc-SU are still controversial. The present study aimed to elaborate a comprehensive proposal of definition, classification, and therapeutic strategy of SSc-SU on the basis of our long-term single center experience along with a careful revision of the world literature on the same topic. A series of 282 SSc patients (254 females and 28 males; 84% with limited and 16% diffuse cutaneous SSc; mean age of 51.5±13.9SD at SSc onset; mean follow-up 5.8±4.6SDyears) enrolled during the last decade at our Rheumatology Unit were retrospectively evaluated with specific attention to SSc-SU. The SSc-SU were classified in 5 subtypes according to prominent pathogenetic mechanism(s) and localization, namely 1. digital ulcers (DU) of the hands or feet, 2. SU on bony prominence, 3. SU on calcinosis, 4. SU of lower limbs, and 5. DU presenting with gangrene. This latter is a very harmful evolution of both DU of the hands and feet needing a differential diagnosis with critical limb ischemia. During the follow up period, one or more episodes of SSc-SU were recorded in over half patients (156/282, 55%); skin lesions were often recurrent and difficult-to-heal because of local complications, mainly infections (67.3%), in some cases associated to osteomyelitis (19.2%), gangrene (16%), and/or amputation (11.5%). SSc-SU were significantly associated with lower patients' mean age at the disease onset (p=0.024), male gender (p=0.03), diffuse cutaneous subset (p=0.015), calcinosis (p=0.002), telangiectasia (p=0.008), melanodermia (pquality of life and reduced long-term disability. Copyright © 2017 Elsevier B.V. All rights

  8. Skin Findings in Renal Transplantation Patients

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    Demet Kartal

    2013-03-01

    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.

  9. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

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    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-04-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

  10. Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.

    Science.gov (United States)

    Ramadan, Ahmad R; Shawar, Said M; Alghamdi, Manal A

    2016-01-01

    Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Both disorders are rare in the general population and occur most often in the Eastern Mediterranean region and Africa. None of the mutations could be identified using standard restriction fragment length polymorphism. The only technique currently available to confirm the clinical diagnosis is DNA sequencing. Using a tri-primer ARMS-PCR, in vitro site-directed mutagenesis and DNA sequencing, we developed, verified and validated a rapid and reliable diagnostic test for the ten mutations in FGF23. We generated a test for all ten mutations and confirmed each test by DNA sequencing. We increased the specificity of the test by introducing a mismatch at position -2 in the 3'-terminus of the reverse primer of the normal and the mutant sequences. Finally, using DNA sequencing, we validated the technique for FGF23/S129F substitution by testing samples from 80 individuals from two unrelated Arab families harboring HFTC. This inexpensive and specific method could be adopted where DNA sequencing is not available or affordable. © 2016 S. Karger AG, Basel.

  11. Spontaneous Compartment Syndrome of the Hand in Systemic Sclerosis.

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    Tanagho, Andy; Hatab, Sameh; Youssef, Sally; Ansara, Sameh

    2015-09-01

    Compartment syndrome refers to a condition of compromised circulation within a limited space due to increased pressure within that space. The reduced tissue perfusion results in reduced venous drainage, leading to increased interstitial tissue pressure and subsequent compromised arterial flow. Although not as common as compartment syndrome of the leg and forearm, compartment syndrome of the hand is not rare and can lead to devastating sequelae as a result of tissue necrosis. Compartment syndrome of the hand has several etiologies, including trauma, arterial injury, thermal injury, and constrictive bandaging. The cardinal clinical sign is pain that is aggravated by passive stretching of the muscles within the involved compartments. Extremity function is usually restored with expeditious fasciotomy of the involved myofascial compartments, and complications, such as intrinsic muscular dysfunction and Volkmann's ischemic contracture, can usually be prevented. There are no reported cases of compartment syndrome of the hand in patients with systemic sclerosis or Raynaud's phenomenon. Systemic sclerosis is a form of scleroderma that affects the skin and internal organs. The limited cutaneous subset affects the skin of the extremities but is associated with a set of characteristic features that includes calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia. This report describes an unusual case of a patient who had spontaneous compartment syndrome of the hand. The patient's concomitant limited cutaneous systemic sclerosis may have played a role in this unusual occurrence. The diagnosis was based on the clinical picture, and the symptoms resolved after surgical decompression. Copyright 2015, SLACK Incorporated.

  12. Frequency of and risk factors associated with lingual lesions in dogs: 1,196 cases (1995-2004).

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    Dennis, Michelle M; Ehrhart, Nicole; Duncan, Colleen G; Barnes, Ashley B; Ehrhart, E J

    2006-05-15

    To categorize histologic lesions affecting the tongue, determine the frequency with which they develop, and identify risk factors associated with their development in dogs. Retrospective case series. 1,196 dogs. Diagnostic reports of lingual biopsy specimens from dogs evaluated from January 1995 to October 2004 were reviewed. Neoplasia comprised 54% of lingual lesions. Malignant tumors accounted for 64% of lingual neoplasms and included melanoma, squamous cell carcinoma, hemangiosarcoma, and fibrosarcoma. Large-breed dogs, especially Chow Chows and Chinese Shar-Peis, were at increased risk for melanoma. Females of all breeds and Poodles, Labrador Retrievers, and Samoyeds were more likely to have squamous cell carcinomas. Hemangiosarcomas and fibrosarcomas were commonly diagnosed in Border Collies and Golden Retrievers, respectively. Benign neoplasms included squamous papilloma, plasma cell tumor, and granular cell tumor. Small-breed dogs, especially Cocker Spaniels, were at increased risk for plasma cell tumors. Glossitis accounted for 33% of diagnoses; in most cases, the inciting cause was not apparent. Whereas large-breed dogs were more likely to have lingual neoplasia, small-breed dogs were more likely to have glossitis. Calcinosis circumscripta accounted for 4% of lingual lesions and predominately affected young large-breed dogs. The remaining submissions consisted mostly of various degenerative or wound-associated lesions. The frequency of lingual lesions was not evenly distributed across breeds, sexes, or size classes of dogs. Veterinarians should be aware of the commonly reported lingual lesions in dogs so that prompt diagnosis and appropriate management can be initiated.

  13. Multicriteria decision analysis methods with 1000Minds for developing systemic sclerosis classification criteria.

    Science.gov (United States)

    Johnson, Sindhu R; Naden, Raymond P; Fransen, Jaap; van den Hoogen, Frank; Pope, Janet E; Baron, Murray; Tyndall, Alan; Matucci-Cerinic, Marco; Denton, Christopher P; Distler, Oliver; Gabrielli, Armando; van Laar, Jacob M; Mayes, Maureen; Steen, Virginia; Seibold, James R; Clements, Phillip; Medsger, Thomas A; Carreira, Patricia E; Riemekasten, Gabriela; Chung, Lorinda; Fessler, Barri J; Merkel, Peter A; Silver, Richard; Varga, John; Allanore, Yannick; Mueller-Ladner, Ulf; Vonk, Madelon C; Walker, Ulrich A; Cappelli, Susanna; Khanna, Dinesh

    2014-06-01

    Classification criteria for systemic sclerosis (SSc) are being developed. The objectives were to develop an instrument for collating case data and evaluate its sensibility; use forced-choice methods to reduce and weight criteria; and explore agreement among experts on the probability that cases were classified as SSc. A standardized instrument was tested for sensibility. The instrument was applied to 20 cases covering a range of probabilities that each had SSc. Experts rank ordered cases from highest to lowest probability; reduced and weighted the criteria using forced-choice methods; and reranked the cases. Consistency in rankings was evaluated using intraclass correlation coefficients (ICCs). Experts endorsed clarity (83%), comprehensibility (100%), face and content validity (100%). Criteria were weighted (points): finger skin thickening (14-22), fingertip lesions (9-21), friction rubs (21), finger flexion contractures (16), pulmonary fibrosis (14), SSc-related antibodies (15), Raynaud phenomenon (13), calcinosis (12), pulmonary hypertension (11), renal crisis (11), telangiectasia (10), abnormal nailfold capillaries (10), esophageal dilation (7), and puffy fingers (5). The ICC across experts was 0.73 [95% confidence interval (CI): 0.58, 0.86] and improved to 0.80 (95% CI: 0.68, 0.90). Using a sensible instrument and forced-choice methods, the number of criteria were reduced by 39% (range, 23-14) and weighted. Our methods reflect the rigors of measurement science and serve as a template for developing classification criteria. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Adenocarcinoma of the third portion of the duodenum in a man with CREST syndrome.

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    Anastasopoulos, Georgios; Marinis, Athanasios; Konstantinidis, Christos; Theodosopoulos, Theodosios; Fragulidis, Georgios; Vassiliou, Ioannis

    2008-10-01

    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. 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. 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.

  15. Histopathology of Synovial Cysts of the Spine.

    Science.gov (United States)

    Chebib, Ivan; Chang, Connie Y; Schwab, Joseph H; Kerr, Darcy A; Deshpande, Vikram; Nielsen, G Petur

    2018-01-04

    Cystic lesions derived from the synovial and ligamentous structures of the spine have varied histologic appearances. Not uncommonly, there is discrepancy between the clinico-radiologic diagnosis and histology. Therefore, we sought to characterize the histologic features of tissue submitted as "synovial cysts" of the spine. Resected specimens of the spine labeled "synovial cysts" and "lumbar cysts" were histologically evaluated and classified based on histopathologic features. 75 histologic samples of spinal cysts were identified. 31 were classified as synovial cysts (definite synovial lining), 28 showed pseudocystic degeneration of the ligamentum flavum, 7 showed pseudocyst formation without evidence of synovial lining or degeneration of the ligamentum flavum, 8 showed cyst contents only or no histologic evidence of cyst wall for evaluation. Twenty-five cases (33%), especially those showing pseudocystic degeneration of the ligamentum flavum were associated with very characteristic tumor calcinosis-like calcium deposition with surrounding foreign-body giant cell reaction. Histology of "synovial cysts" of the spine shows varied types of cysts; a large proportion are not synovial lined cysts but rather show pseudocystic degenerative changes of the ligamentum flavum often associated with very characteristic finely granular calcifications and foreign body giant cell reaction. This may have implications, not only in understanding the pathogenesis of these lesions, but also in their varied response to non-surgical interventions. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  16. Can SLE classification rules be effectively applied to diagnose unclear SLE cases?

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    Mesa, A; Fernandez, M; Wu, W; Narasimhan, G; Greidinger, E L; Mills, D K

    2016-06-27

    The objective of this paper is to develop novel classification criteria to distinguish between unclear systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD) cases. A total of 205 variables from 111 SLE and 55 MCTD patients were evaluated to uncover unique molecular and clinical markers for each disease. Binomial logistic regressions (BLRs) were performed on currently used SLE and MCTD classification criteria sets to obtain six reduced models with power to discriminate between unclear SLE and MCTD patients that were confirmed by receiving operating characteristic (ROC) curve. Decision trees were employed to delineate novel classification rules to discriminate between unclear SLE and MCTD patients. SLE and MCTD patients exhibited contrasting molecular markers and clinical manifestations. Furthermore, reduced models highlighted SLE patients exhibiting prevalence of skin rashes and renal disease while MCTD cases show dominance of myositis and muscle weakness. Additionally decision tree analyses revealed a novel classification rule tailored to differentiate unclear SLE and MCTD patients (Lu-vs-M) with an overall accuracy of 88%. Validation of our novel proposed classification rule (Lu-vs-M) includes novel contrasting characteristics (calcinosis, CPK elevated and anti-IgM reactivity for U1-70K, U1A and U1C) between SLE and MCTD patients and showed a 33% improvement in distinguishing these disorders when compared to currently used classification criteria sets. Pending additional validation, our novel classification rule is a promising method to distinguish between patients with unclear SLE and MCTD diagnosis. © The Author(s) 2016.

  17. Epidemiology of benign eyelid lesions in patients presenting to a teaching hospital

    Science.gov (United States)

    Al-Faky, Yasser H.

    2011-01-01

    Purpose This study evaluates the relative frequency of benign eyelid lesions presented to a teaching hospital in Saudi population. Patients and methods Charts of patients with benign eyelid lesions were retrospectively reviewed from January 2003 to December 2008. Clinical details included demographic data, symptoms and signs, surgical findings, primary diagnosis, and indication for biopsy were analyzed in a histopathologically confirmed benign eyelid lesions. Eyelid lesions were arranged according to their order of frequencies. Results A total of 222 biopsies were evaluated from 181 patients (male 39.2% and female 60.8%). The age of the patient at the time of biopsy ranged from 2 to 87 years old. The most common benign eyelid lesion encountered in our practice was sweat gland hidrocystoma followed by chalazion, skin tag, epidermal cyst, nevus, seborrheic keratosis, xanthelasma, and molluscum contagiosum respectively. Histopathological studies confirmed the clinical diagnosis in 95.9% (213/222) of specimens and was different from the clinical diagnosis in 4.1% (9/222) of the lesions which included seborrheic keratosis (n = 3), pilomatrixoma, steatocystoma, hemangioendothelioma, juvenile xanthogranuloma, calcinosis cutis, and syringocystadenoma papilliferum. No malignant lesion was labeled as benign. Conclusion Epidemiology of benign eyelid lesions in Saudi population is different from Far East or Western populations. Sweat gland hidrocystoma with classical clinical features and straightforward diagnosis is the most frequent lesion in our series which could be due to characteristic dry climate. PMID:23960994

  18. An MR Brain Images Classifier System via Particle Swarm Optimization and Kernel Support Vector Machine

    Directory of Open Access Journals (Sweden)

    Yudong Zhang

    2013-01-01

    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.

  19. A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p

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    Ohashi, Hirofumi; Fukushima, Yoshimitsu; Wakui, Keiko; Ogawa, Kioyshi [Saitama Children`s Medical Center, Iwatsuki (Japan); Okano, Tetsuroh [Kitazato Univ., Tokyo (Japan); Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan)

    1994-12-01

    A centromere is considered to be an essential chromosomal component where microtubule-kinetochore interaction occurs to segregate sister chromatids faithfully and acentric chromosomes are unstable and lost through cell divisions. We report a novel marker chromosome that was acentric but stable through cell divisions. The patient was a 2-year-old girl with mental retardation, patent ductus arteriosus, and mild dysmorphic features. G-banded chromosome analysis revealed that an additional small marker chromosome was observed in all 100 cells examined. By the reverse-chromosome-painting method, the marker was found to originate from the distal region of 8p, and a subsequent two-color FISH analysis with cosmid probes around the region revealed that the marker was an inverted duplication interpreted as 8pter {yields} p23.1::p23.1 {yields} 8pter. No centromeric region was involved in the marker. By FISH, no {alpha}-satellite sequence was detected on the marker, while a telomere sequence was detected at each end. Anti-kinetochore immunostaining, using a serum from a patient with CREST (calcinosis, Raynaud syndrome, esophageal dismotility, sclerodactyly, and telangiectasia) syndrome, showed a pair of signals on the marker, which indicated that a functional kinetochore was present on the marker. The analysis of this patient might suggest the possibility that an ancient centromere sequence exists at distal 8p (8p23.1-pter) and was activated through the chromosome rearrangement in the patient.

  20. Current cytogenetic methods for detecting exposure and effects of mutagens and carcinogens.

    Science.gov (United States)

    Natarajan, A T; Boei, J J; Darroudi, F; Van Diemen, P C; Dulout, F; Hande, M P; Ramalho, A T

    1996-05-01

    Most mutagens and genotoxic carcinogens are efficient inducers of chromosomal alterations in exposed cells. Two important classes of aberrations, namely structural and numerical, are recognized and both types of aberrations are associated with congenital abnormalities and neoplasia in humans. These alterations can be easily detected and quantified in human peripheral blood lymphocytes. Conventional staining techniques can be used to detect these aberrations; this technique was used to estimate absorbed dose in the case of a radiation accident in Goiania, Brazil. A recently introduced fluorescent in situ hybridization technique (FISH) using DNA probes has increased the sensitivity and ease of detecting chromosome aberrations, especially stable chromosome aberrations. This technique allows, to some extent, the estimation of absorbed radiation dose from past exposures. Numerical aberrations can be directly estimated in metaphases by counting the number of FISH-painted chromosomes. Micronuclei are formed by lagging chromosome fragments or whole chromosomes during the anaphase stage of cell division. The nature of micronuclei as to whether they possess a centromere can be determined either by CREST staining (calcinosis, Raynoud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) or FISH with centromere-specific DNA probes. In several carcinogen-exposed populations, such as heavy smokers or people exposed to arsenic, aneuploidy appears to be more common than structural aberrations. In victims of radiation accidents, aneuploidy (hyperploidy) has been found to be common in addition to structural aberrations.

  1. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

    Science.gov (United States)

    Foster, B.L.; Ramnitz, M.S.; Gafni, R.I.; Burke, A.B.; Boyce, A.M.; Lee, J.S.; Wright, J.T.; Akintoye, S.O.; Somerman, M.J.; Collins, M.T.

    2014-01-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  2. Acro-osteolysis as an indicator of severity in systemic sclerosis.

    Science.gov (United States)

    Arana-Ruiz, Juan Carlos; Amezcua-Guerra, Luis Manuel

    2016-01-01

    Systemic sclerosis is a rare disease that predominantly affects women. The Medsger severity scale has been used to assess the severity, but it requires expensive and poorly accessible studies and it does not include complications such acrosteolysis, calcinosis, pericardial disease or hypothyroidism that occur on a relatively frequent basis in this disease. There is no study that considers if comorbidities, such as primary biliary cirrhosis, are related to gravity. To determine the correlation between severity and the presence of such complications. 40 patients with systemic sclerosis, dividing them into tertiles according to severity were studied. Dichotomous variables were described using percentages, while dimensional by averages+SD. Statistical inference was performed using chi square test or Kruskal-Wallis test with Dunn post-test, as appropriate. A significance at P<.05 was set. Of all the complications studied there were only differences in severity with acrosteolysis. Within comorbidities, primary biliary cirrhosis is not associated with gravity. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  3. An unequal social distribution of peripheral arterial disease and the possible explanations: results from a population-based study.

    Science.gov (United States)

    Kröger, Knut; Dragano, Nico; Stang, Andreas; Moebus, Susanne; Möhlenkamp, Stefan; Mann, Klaus; Siegrist, Johannes; Jöckel, Karl-Heinz; Erbel, Raimund

    2009-11-01

    A low socioeconomic status (SES) is associated with higher cardiovascular mortality and morbidity. It has remained unclear whether such a social gradient is evident in peripheral artery disease (PAD) because both diseases show different clinical courses. We looked at the association between education and income with PAD within the population of the Heinz Nixdorf Recall Study (HNRS) including 4738 individuals. In both men and women, the ankle-brachial index (ABI) decreased and the prevalence of PAD (ABI education and income. Looking only at participants without cardiovascular disease, doctor-diagnosed PAD and media calcinosis participants with low (odds ratio 2.58, 95% confidence interval 1.53-4.34) and median education (1.90, 1.27-2.85) had higher odds for suffering from PAD compared to participants with high education. Additional adjustment for classical arteriosclerosis risk factors reduced the strength of the association while the odds ratios remained elevated. Current smoking, diabetes and BMI seem to be the most relevant mediators. Income does not significantly correlate with events when adjustments for all other risk factors are made. In conclusion, our study demonstrates that PAD is more pronounced in men and women with lower socioeconomic status. Diabetes prevention and smoking prevention and cessation programs need to specifically target individuals of lower income and education. According to our findings, prevention of PAD would benefit extraordinarily.

  4. An MR brain images classifier system via particle swarm optimization and kernel support vector machine.

    Science.gov (United States)

    Zhang, Yudong; Wang, Shuihua; Ji, Genlin; Dong, Zhengchao

    2013-01-01

    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.

  5. Rare bone diseases and their dental, oral, and craniofacial manifestations.

    Science.gov (United States)

    Foster, B L; Ramnitz, M S; Gafni, R I; Burke, A B; Boyce, A M; Lee, J S; Wright, J T; Akintoye, S O; Somerman, M J; Collins, M T

    2014-07-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. © International & American Associations for Dental Research.

  6. Non-Venereal Dermatoses In Male Genital Region-Prevalence And Patterns In A Referral Centre In South India

    Directory of Open Access Journals (Sweden)

    Karthikeyan K

    2001-01-01

    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 ’97 to March ’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.

  7. High-Velocity Paint Gun Injuries.

    Science.gov (United States)

    Wohltmann, Wendi E; Wisell, Joshua A; Lafrades, Celina M C; Cramer, Daniel M; Ragsdale, Bruce D

    2017-08-01

    Cutaneous injuries due to industrial high-pressure paint guns are well-documented in the literature; however, the histologic characteristics are uncommonly described, and facial involvement has not been previously reported. Histopathologic features of paint gun injuries vary depending on the time since injection and type of material. Early lesions display an acute neutrophilic infiltrate, edema, and thrombosis, with varying degrees of skin, fat, and muscle necrosis. More developed lesions (120-192 hours after injury) have prominent histiocytes and fibrosis around necrotic foci, possibly with the pitfall of muscle regenerative giant cells that could be mistaken for sarcoma. Continuing inflammation, swelling, and resultant vascular compression could explain ongoing necrosis months after the accident. The histopathologic differential diagnosis in the absence of clinical history includes paint in an abrasion, foreign body reaction to tattoo, giant cell tumor of tendon sheath, and various neoplasms. If available, radiologic studies can substitute for clinical photographs to indicate the extent of injury. The radiologic differential, uninformed by history, may include calcific periarthritis, gouty tophus, and tumoral calcinosis. Seven cases of injury due to high-velocity paint guns are presented with 4 additional cases mimicking paint gun injury and with review of the literature.

  8. Radiographic manifestations of Mönckeberg arteriosclerosis in the head and neck region

    Energy Technology Data Exchange (ETDEWEB)

    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)

    2016-03-15

    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.

  9. Fetuin-A (AHSG) prevents extraosseous calcification induced by uraemia and phosphate challenge in mice.

    Science.gov (United States)

    Westenfeld, Ralf; Schäfer, Cora; Smeets, Ralf; Brandenburg, Vincent M; Floege, Jürgen; Ketteler, Markus; Jahnen-Dechent, Willi

    2007-06-01

    Chronic kidney disease (CKD) is associated with vascular and tissue calcification. The extent of vascular calcification has been identified as an independent risk factor of cardiovascular death in patients on haemodialysis. We studied the role of fetuin-A in CKD-associated calcification using a mouse model of graded renal insufficiency generated by nephrectomy and high phosphate diet. We used wild-type and fetuin-A-deficient mice on the calcification resistant genetic background C57BL/6 to study the influence on calcification of CKD, dietary phosphate and fetuin deficiency. Hyperphosphataemia, elevated BUN, hyperparathyroidism and von Kossa histochemistry served as indicators of calcification disease. The expression of osteopontin, a marker of osteoblast-like cell differentiation was analyzed by realtime PCR and immunohistochemistry. We detected tissue and genotype-specific susceptibility for calcification. Fetuin-A-deficient mice with CKD and high phosphate diet had only a moderately elevated serum calcium phosphate product (6.9 +/- 1.4 mmol(2)/l(2)), but suffered severe calcification of kidney, heart and lung. In contrast, wild-type mice under the same conditions developed renal calcinosis only despite an elevated serum calcium phosphate product (9.6 +/- 0.9 mmol(2)/l(2)). Calcification was preceded by the local induction of osteopontin, a marker for osteoblast-like cell differentiation. Fetuin-A deficiency, CKD and high phosphate diet act synergistically in the pathogenesis of extraosseous calcification.

  10. Telangiectasis in CREST syndrome and systemic sclerosis: correlation of clinical and pathological features with response to pulsed dye laser treatment.

    Science.gov (United States)

    Halachmi, Shlomit; Gabari, Osama; Cohen, Sarit; Koren, Romelia; Amitai, Dan Ben; Lapidoth, Moshe

    2014-01-01

    Telangiectasia are cardinal features of systemic sclerosis (SS) and calcinosis, Raynaud's syndrome, esophageal motility, sclerodactyly, telangiectasias (CREST) syndrome. The etiology of telangiectasia in these syndromes is unknown, but vascular dysfunction has been proposed. However, the telangiectasia of CREST have anecdotally been considered relatively resistant to pulse dye laser (PDL), the treatment of choice for classic telangiectasia. The study was designed to test whether SS/CREST telangiectasia require more treatments than sporadic telangiectasia and to identify clinical and histological features that could explain such an effect. Nineteen skin biopsies from patients with SS or CREST and 10 control biopsies were examined and compared for features that may predict a differential response to PDL. Sixteen cases of SS or CREST treated with PDL between 1997 and 2007 were evaluated and response to treatment was compared with 20 patients with sporadic telangiectasis. Relative to normal skin, CREST/scleroderma telangiectasia exhibited thickened vessels in 17 out of 19 sections and thickened collagen fibers in the reticular or deep dermis in all sections. The number of treatments required to clear SS/CREST telangiectasia was approximately twofold higher. SS/CREST telangiectasia are more resistant to PDL but can be effectively cleared with more treatments.

  11. Anti-myelin-associated glycoprotein polyneuropathy coexistent with CREST syndrome.

    Science.gov (United States)

    Andreadou, E; Zouvelou, V; Karandreas, N; Kilidireas, C

    2012-01-01

    Clinical involvement of the peripheral nervous system in the calcinosis cutis, raynaud's phenomenon, esophageal dismotility, sclerodactyly and telangiectasia (CREST) variant of systemic sclerosis occurs infrequently and is characterized by axonal degeneration due to necrotizing vasculitis. We report a female patient with a known history of CREST syndrome, which developed a slowly progressive, distal symmetric demyelinating sensorimotor polyneuropathy (PN), with tremor and ataxia as prominent features, compatible with anti-myelin associated glycoprotein (MAG) PN. The diagnosis of PN was established by the presence of monoclonal immunoglobulin M anti-MAG antibodies (Thin-Layer Chromatography, Western Blot and enzyme-linked immunoabsorbent assay). Given the evidence that in CREST activation of T-helper cells is observed and that anti-MAG antibodies, despite the fact that they are T-cell-independent, may be influenced by an increase in T-helper function, the coexistence of these two rare autoimmune disorders in the same patient may not be incidental but related to the underlying immunological mechanisms involved.

  12. Combination therapy with oral sildenafil and beraprost for pulmonary arterial hypertension associated with CREST syndrome.

    Science.gov (United States)

    Miwa, Kenji; Matsubara, Takashi; Uno, Yoshihide; Yasuda, Toshihiko; Sakata, Kenji; Tsuda, Toyonobu; Kanaya, Honin

    2007-05-01

    Pulmonary arterial hypertension (PAH) is commonly associated with CREST (Calcinosis, Raynaud phenomenon, Esophageal motility disorders, Sclerodactyly, and Telangiectasia) syndrome. Sildenafil, an oral phosphodiesterase type-5 inhibitor, may offer benefits in the pharmacological management of PAH. However, little is known about the long-term hemodynamic effects of sildenafil, and the potential role of sildenafil in long-term combination with beraprost, an oral prostacyclin analogue, remains unclear. We therefore examined the hemodynamic effect of oral sildenafil alone and when coadministered with beraprost in a patient with PAH associated with CREST syndrome. Traces of the acute hemodynamic effects of beraprost (20 microg) disappeared after 2 hours. In contrast, the acute hemodynamic effects of sildenafil (50 mg) produced a greater reduction in PAP (31%) and PVR (40%), and these effects also disappeared after 5 hours. After 1 month of combination therapy of sildenafil (25 mg) twice daily and beraprost (20 microg) 3 times daily, the fall in pulmonary artery pressure and pulmonary vascular resistance was sustained (31% in both). Furthermore, the patient had significantly improved her 3-minute walk test and NYHA function class without significant adverse effects at the reported doses. The findings indicate that oral sildenafil is a potent pulmonary vasodilator that appears to act synergistically with oral beraprost to cause sustained pulmonary vasodilatation in a patient with PAH associated with CREST syndrome.

  13. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    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

  14. Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report

    Science.gov (United States)

    Barolet, Daniel

    2014-11-01

    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).

  15. Association of an irregularly shaped anterior choroidal aneurysm with CREST syndrome. Case report.

    Science.gov (United States)

    Zoumalan, Richard A; Bendok, Bernard R; Parkinson, Richard J; Sorin, John; Burke, Allan M; Batjer, H Hunt

    2004-11-01

    The authors present the case of a 50-year-old woman with a history of CREST syndrome (calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia), a variant of scleroderma, who was incidentally found to have an irregular intracranial aneurysm. The patient presented with migraine headaches. A magnetic resonance image of the brain obtained during the headache workup revealed a right posterior carotid artery wall aneurysm in the region of the anterior choroidal artery (AChA). On digital subtraction angiograms, the lesion measured 3.5 mm at its largest diameter. Because of the irregular shape of the aneurysm, the patient's relatively young age, and the potential for further aneurysm growth due to collagen disease, surgical clip application was recommended following a discussion of available treatment options. At surgery, the aneurysm was identified as bilobed and broad based, and the AChA was found to be associated with the aneurysm neck. Satisfactory clipping of the aneurysm was achieved with preservation of the parent vessels. An association of CREST syndrome with intracranial aneurysms has only been reported once before. This case is presented to draw attention to the possibility of a pathophysiological connection between CREST syndrome and intracranial aneurysms and to postulate a possible mechanism whereby this condition may result in aneurysm formation. The association of aneurysms with other pathological collagen-related conditions is well known, and literature relevant to a possible connection between CREST syndrome and aneurysms is reviewed and discussed.

  16. Primary biliary cirrhosis (PBC)-CREST overlap syndrome with coexistence of Sjögren's syndrome and thyroid dysfunction.

    Science.gov (United States)

    Nakamura, Tadashi; Higashi, Syu-ichi; Tomoda, Kunihiko; Tsukano, Michishi; Sugi, Kazuhiro

    2007-04-01

    Calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia (CREST) syndrome, a limited form of systemic sclerosis, is sometimes complicated by primary biliary cirrhosis (PBC). A 52- and 61-year-old Japanese woman with PBC-CREST overlap syndrome accompanied by Sjögren's syndrome, and Hashimoto's thyroiditis, and Graves' disease, respectively, are reported. They had suffered from Raynaud's phenomena, sclerodactyly, morning stiffness, arthralgia, and sicca symptoms during these several years. They exhibited an increased level of alkaline phosphatase, gamma-glutamyl transpeptidase, positive antibodies against mitochondria and centromere, and hyperglobulinemia without any cholestatic symptoms. Histological findings from liver biopsy specimens were consistent with those of PBC. Clinically, they were diagnosed as both asymptomatic PBC and incomplete CREST syndrome. Their human leukocyte antigen typing showed both DR4 and DR8 positive. The association of the four autoimmune conditions is clinically and etiologically important. Although a combination of these diseases is rare, it is of importance to keep in mind that various autoimmune diseases could occur simultaneously. Of critical importance is that an active diagnostic attitude towards them is admirable, and that early diagnosis and therapy are needed.

  17. Anti-myelin-associated glycoprotein polyneuropathy coexistent with CREST syndrome

    Directory of Open Access Journals (Sweden)

    E Andreadou

    2012-01-01

    Full Text Available Clinical involvement of the peripheral nervous system in the calcinosis cutis, raynaud′s phenomenon, esophageal dismotility, sclerodactyly and telangiectasia (CREST variant of systemic sclerosis occurs infrequently and is characterized by axonal degeneration due to necrotizing vasculitis. We report a female patient with a known history of CREST syndrome, which developed a slowly progressive, distal symmetric demyelinating sensorimotor polyneuropathy (PN, with tremor and ataxia as prominent features, compatible with anti-myelin associated glycoprotein (MAG PN. The diagnosis of PN was established by the presence of monoclonal immunoglobulin M anti-MAG antibodies (Thin-Layer Chromatography, Western Blot and enzyme-linked immunoabsorbent assay. Given the evidence that in CREST activation of T-helper cells is observed and that anti-MAG antibodies, despite the fact that they are T-cell-independent, may be influenced by an increase in T-helper function, the coexistence of these two rare autoimmune disorders in the same patient may not be incidental but related to the underlying immunological mechanisms involved.

  18. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2012-06-01

    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.

  19. Intracranial aneurysms in patients with CREST syndrome.

    Science.gov (United States)

    Nakae, Ryuta; Idei, Masaru; Kumano, Kiyoshi; Okita, Shinji; Yamane, Kanji

    2009-09-01

    CREST syndrome is a variant of scleroderma characterized by calcinosis, Raynaud's phenomenon, esophageal hypomotility, sclerodactyly, and telangiectasia, and is a collagen vascular disease characterized by inflammation and fibrosis of multiple organs/tissues. Neurological and cerebrovascular abnormalities are uncommon in CREST syndrome. Here, we report two patients with CREST syndrome harboring intracranial aneurysms. A 53-year-old woman with a 6-month history of CREST syndrome had multiple intracranial aneurysms that arose from the right middle cerebral artery, the left middle cerebral artery, the choroidal segment of the left internal carotid artery, and the left anterior cerebral artery. A 64-year-old woman with a 2-year history of CREST syndrome had a fusiform aneurysm located on the insular segment of the left middle cerebral artery. These patients were treated surgically and good outcome was achieved in both cases. The pathogenesis of cerebral aneurysms associated with collagen diseases, including CREST syndrome, remains unclear. Early treatment of CREST syndrome and other collagen diseases may prevent arteritis from progressing to affect the intracranial arteries and thus reduce the occurrence of aneurysms. The prognosis for patients with collagen diseases after rupture of cerebral aneurysm seems to be poor because the multiplicity, atypical morphology, and atypical location of their aneurysms make treatment difficult. Thus, early detection and treatment are important to improve the prognosis.

  20. Partial breast irradiation in a patient with bilateral breast cancers and CREST syndrome.

    Science.gov (United States)

    Kounalakis, Nicole; Pezner, Richard; Staud, Cecil L; Kruper, Laura

    2011-01-01

    To describe the first documented use of partial breast irradiation (PBI) in a patient with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias (CREST) syndrome. A 50-year-old woman with well-controlled CREST syndrome for 6 years was diagnosed with bilateral early-staged breast cancers. She underwent bilateral lumpectomies, sentinel lymph node biopsies, and PBI delivered via bilateral MammoSite catheters (Cytyc Corp., Marlborough, MA) followed by chemotherapy. She was monitored perioperatively, at 6 months and at 1 year for worsening of her CREST-related symptoms and complications associated with surgery and radiation therapy. Both surgeon and patient's opinion of her cosmetic outcome were also recorded at 1-year followup. The patient experienced mild acute cellulitic changes in the perioperative period, which resolved with antibiotics. At 6 months, she exhibited a Grade 1 late toxicity, which has remained stable at 1-year followup. The patient and surgeon are very pleased with her cosmetic outcome. Accelerated PBI was delivered safely to a patient with collagen vascular disease. By decreasing the surface area receiving radiation with accelerated PBI, we believe that the toxicity associated with the treatment was minimized. Future studies will be necessary to clarify the use of PBI in patients with collagen vascular disease. Copyright © 2011 American Brachytherapy Society. Published by Elsevier Inc. All rights reserved.

  1. [Factors facilitating development of degenerative aortic valvular stenosis].

    Science.gov (United States)

    Andropova, O V; Polubentseva, E I; Anokhin, V N

    2005-01-01

    The aim of the study was to determine factors of risk and progress of aortal valvular calcinosis (AVC) and aortic ostium stenosis (AOS). The subjects were 85 patients with AVC (42--with aortic valvular stenosis (AVS), and 43--without AOS). The study, which included analysis of the lipid and mineral metabolism, and immunological tests, shows that potential factors of AVC are: age (p dislipidemia (high serum level of total cholesterol, cholesterol of low density lipoproteins, and apoB, atherogenic shift of apoB/apoA-1 ratio, low level of cholesterol of high density lipoproteins (CHDLP)), disbalance between intecellular matrix synthesis and destruction (high concentration of alkaline phosphatase and its bone fraction, and accelerated deoxypyridinoline excretion), inflammation (high concentration of C-reactive protein (CRP), fibrinogen, and interleukin-6 (IL-6)). The factors of AOS were: age (p dislipidemia (high levels of cholesterol of low density and very low density lipoproteins, low concentrations of CHDLP, and apoA-1), degradation of extracellular matrix, and inflammation (high concentrations of CRP, fibrinogen, IL-6, and IL-8). Thus, atherogenic dislipidemia and mineral dysmetabolism disorder facilitate AVC. The revealed immune status changes imply the role of inflammation in the development and progress of AVS.

  2. Adenocarcinoma of the third portion of the duodenum in a man with CREST syndrome

    Directory of Open Access Journals (Sweden)

    Fragulidis Georgios

    2008-10-01

    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.

  3. NEPHROPATHIES IN THE EUROPEAN CAPTIVE CHEETAH (ACINONYX JUBATUS) POPULATION.

    Science.gov (United States)

    Url, Angelika; Krutak, Verena; Kübber-Heiss, Anna; Chvala-Mannsberger, Sonja; Robert, Nadia; Dinhopl, Nora; Schmidt, Peter; Walzer, Chris

    2016-09-01

    According to previous studies in captive cheetah ( Acinonyx jubatus ) populations, one of the most threatening diseases besides amyloidosis, myelopathy, veno occlusive disease, and gastritis, is renal failure. Contrary to captive cheetahs in North America and South Africa, morphological data concerning renal lesions in the cheetah European Endangered Species Program (EEP) are lacking. This study details the histological characterization as well as immunohistochemical and morphometrical analysis of nephropathies in 35 captive cheetahs from the EEP, which were necropsied between 1985 and 2003. Examination of paraffin- and glycolmethacrylate-methylmethacrylate (GMA-MMA) embedded kidney samples by light microscopy revealed glomerulonephritis in 91%, with a high prevalence for glomerulosclerosis and glomerulonephritis with the histologic pattern of membranous glomerulonephritis (77%). Besides these predominating glomerulopathies, a wide range of other renal lesions, like acute tubular necrosis, interstitial nephritis, calcinosis, and amyloidosis, were present. Pathological expression of collagen type IV, complement C3, fibronectin, and IgG was demonstrated in the glomeruli of the cheetah kidneys with the use of the avidin-biotin complex method. Morphometrical analysis was performed on GMA-MMA embedded kidney samples to obtain glomerulosclerosis index and glomerulosclerosis incidence.

  4. Sterile α Motif Domain Containing 9 Is a Novel Cellular Interacting Partner to Low-Risk Type Human Papillomavirus E6 Proteins.

    Directory of Open Access Journals (Sweden)

    Jia Wang

    Full Text Available Low-risk type human papillomavirus (HPV 6 and 11 infection causes recurrent respiratory papillomatosis (RRP and genital warts. RRP is the most common benign tumor of the larynx in children with frequent relapses. Repeated surgeries are often needed to improve vocal function and prevent life-threatening respiratory obstruction. Currently, there are no effective treatments available to completely eliminate these diseases, largely due to limited knowledge regarding their viral molecular pathogenesis. HPV E6 proteins contribute to cell immortalization by interacting with a variety of cellular proteins, which have been well studied for the high-risk type HPVs related to cancer progression. However, the functions of low-risk HPV E6 proteins are largely unknown. In this study, we report GST-pulldown coupled mass spectrometry analysis with low-risk HPV E6 proteins that identified sterile alpha motif domain containing 9 (SAMD9 as a novel interacting partner. We then confirmed the interaction between HPV-E6 and SAMD9 using co-immunoprecipitation, proximity ligation assay, and confocal immunofluorescence staining. The SAMD9 gene is down-regulated in a variety of neoplasms and deleteriously mutated in normophosphatemic familial tumoral calcinosis. Interestingly, SAMD9 also has antiviral functions against poxvirus. Our study adds to the limited knowledge of the molecular properties of low-risk HPVs and describes new potential functions for the low-risk HPV E6 protein.

  5. Sonography of acne vulgaris.

    Science.gov (United States)

    Wortsman, Ximena; Claveria, Pedro; Valenzuela, Fernando; Molina, Maria Teresa; Wortsman, Jacobo

    2014-01-01

    The purpose of this study was to assess the sonographic morphology of the clinical and subclinical pathology of facial acne vulgaris. We studied patients with facial acne vulgaris diagnosed by certified dermatologists, and using a standardized protocol for sonographic examinations, we sequentially described the sonographic pathomorphologic characteristics. Lesions of particular interest to the referring clinician were also analyzed separately. Additionally, acne involvement was staged clinically and sonographically (SOS-Acne) using morphologic definitions of the relevant lesions and predefined scoring systems for gradation of the severity of acne lesions. A total of 245 acne lesions in 20 consecutive patients were studied. Sonographic abnormalities consisted of pseudocysts, folliculitis, fistulas, and calcinosis. Most conditions were subclinical and mostly due to lesion extensions deep into the dermis and hypodermis (52% of pseudocysts and 68% of fistulas). The statistical concordance between acne severity scores assigned by two separate clinicians was strong (κ = 0.8020), but the corresponding sonographic scores generally showed more severe and clinically occult involvement. Facial acne vulgaris often involves deeper tissues, beyond the reach of the spatially restricted clinical examination; these subclinical conditions can be detected and defined with sonography. Additionally, acne vulgaris is amenable to sonographic scoring.

  6. Skin disease in dermatomyositis.

    Science.gov (United States)

    Zaba, Lisa C; Fiorentino, David F

    2012-11-01

    This review will provide the clinician with an update on the pathogenesis, clinical manifestations, and therapy for skin disease in dermatomyositis. Recent insights into the role for interferon in skin disease as well as the development and validation of quantitative tools to measure skin disease activity allow the possibility that, for the first time, dermatomyositis skin disease can serve as a valid outcome for clinical trials of targeted therapies. Also, the increasing appreciation of the heterogeneity of skin disease in dermatomyositis has already provided evidence that clinical subtypes of disease can provide important prognostic and diagnostic information to the clinician. It is becoming apparent that the skin inflammation alone has implications for systemic and malignancy risk in dermatomyositis patients, and that there may be several pathogenic similarities between muscle and skin inflammation in dermatomyositis. Recent data on therapy for calcinosis cutis highlights that more prospective studies are needed to evaluate how best to manage all manifestations of skin inflammation in dermatomyositis. A more careful description and classification of skin disease in dermatomyositis may allow the clinician to predict more accurately which patients will be at higher risk for cancer, lung disease, or muscle inflammation. In addition, given the similarities in perturbed gene expression between skin and muscle tissue, it is likely that analysis of a more readily evaluable target organ such as skin might shed light on mechanisms of disease propagation throughout the body.

  7. Tongue nodules in canine leishmaniosis — a case report

    Directory of Open Access Journals (Sweden)

    Viegas Carlos

    2012-06-01

    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.

  8. [Radial diagnosis MRT and MSCT in assessing the outcomes of surgical correction for complicated congenital heart defects: discordant atrioventricular connections with double outlet right ventricle].

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    Mershina, E A; Frolova, Iu V; Seliavko, Iu A; Sinitsyn, V E

    2012-01-01

    Discordant atrioventricular connection with double outlet right ventricle is a rare complicated congenital heart defect (CHD) requiring accurate diagnosis and appropriate correction. Magnetic resonance imaging (MRI) and multiple spiral computed tomography (MSCT) were used to assess long-term outcomes of the «classical» repair of the double outlet right ventricle in a patient presenting with discordant atrioventricular connection. Using a modified segmental approach provided all necessary anatomical evidence concerning the condition of the heart, major vessels, and an extracardiac pulmonary valve-containing conduit. MSCT made it possible to evaluate the degree of calcinosis and stenosis of the conduit and to visualize the coronary arteries. MRI was employed to assess the pressure gradient at the level of stenosis of the conduit, the relationship between the pulmonary and systemic circulation, transvalvular regurgitation, and ventricular contractility. Comprehensive use of present-day tomographic methods of imaging made it possible to obtain complete anatomical and functional information about the condition of the heart, vessels, extracardiac vascular transplant, as well as to reveal complications and determine the indications for a repeat operative intervention.

  9. Werner syndrome: clinical evaluation of two cases and a novel mutation.

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    Mansur, A T; Elçioglu, N H; Demirci, G T

    2014-01-01

    Werner syndrome (WS) is a premature aging disorder, inherited in an autosomal recessive pattern and caused by the mutation in the WRN gene. In this report we describe two male patients with negative family history who demonstrate characteristic findings of WS, with different mutations, including one novel mutation. The first case was a 47-year-old man who had been suffering from large, ischemic ulcers on both legs for 7 years. Physical examination revealed a thin and short man with severe wasting of all extremities. He had a high-pitched voice, hoarseness, a characteristic bird-like facies, bilateral cataracts, generalized osteoporosis, hypotrichosis, atrophic and poikilodermic skin, flexion contractures of hands, feet and knees, and soft tissue calcifications. Laboratory investigations revealed anemia, high erythrocyte sedimentation rate, low creatinine clearance, and high liver enzymes. Genetic analysis showed a homozygous novel 1bp-deletion in exon 19 of WRN, 2426/27delG, causing frameshift and protein truncation R809SfsX2, which has not been described before. The second case was a 23-year-old man who was referred for large callosities on both feet, present for 7 years. He complained of weakness, weight loss, wasting of muscles, and early graying of hair. The entire skin was thin, wrinkled and dry. Generalized hypotrichosis, scattered ephelid-like macules, sclerotic fingers, calcinosis cutis on ears, hyperpigmentation on elbows were the other alterations of skin. Skeletal survey revealed osteoporosis. Genetic analysis showed a homozygous known pathogenic splice site mutation c.3460-2A>G, causing skipping of Exon 30 in WRN.

  10. [Application of atomic force microscopy (AFM) in ophthalmology].

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    Milka, Michał; Mróz, Iwona; Jastrzebska, Maria; Wrzalik, Roman; Dobrowolski, Dariusz; Roszkowska, Anna M; Moćko, Lucyna; Wylegała, Edward

    2012-01-01

    Atomic force microscopy (AFM) allows to examine surface of different biological objects in the nearly physiological conditions at the nanoscale. The purpose of this work is to present the history of introduction and the potential applications of the AFM in ophthalmology research and clinical practice. In 1986 Binnig built the AFM as a next generation of the scanning tunnelling microscope (STM). The functional principle of AFM is based on the measurement of the forces between atoms on the sample surface and the probe. As a result, the three-dimensional image of the surface with the resolution on the order of nanometres can be obtained. Yamamoto used as the first the AFM on a wide scale in ophthalmology. The first investigations used the AFM method to study structure of collagen fibres of the cornea and of the sclera. Our research involves the analysis of artificial intraocular lenses (IOLs). According to earlier investigations, e.g. Lombardo et al., the AFM was used to study only native IOLs. Contrary to the earlier investigations, we focused our measurements on lenses explanted from human eyes. The surface of such lenses is exposed to the influence of the intraocular aqueous environment, and to the related impacts of biochemical processes. We hereby present the preliminary results of our work in the form of AFM images depicting IOL surface at the nanoscale. The images allowed us to observe early stages of the dye deposit formation as well as local calcinosis. We believe that AFM is a very promising tool for studying the structure of IOL surface and that further observations will make it possible to explain the pathomechanism of artificial intraocular lens opacity formation.

  11. Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations?

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    Clarissa C.M. Valões

    Full Text Available Abstract Objective: To assess esophageal involvement (EI in juvenile localized scleroderma (JLS population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. Methods: For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. Results: JLS was observed in 56/5881 patients (0.9%, mainly linear morphea subtype. EI was observed in 23/56(41% of JLS patients. Eight(35% of 23 EI patients with JLS were symptomatic and presented heartburn(5/8, solid and liquid dysphagia(3/8, nausea and epigastralgia(1/8. The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p = 0.024. No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p > 0.05. The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p = 0.002. Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB was similar in both groups (p > 0.05. Conclusions: Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy.

  12. Systemic sclerosis: Current concepts in pathogenesis and therapeutic aspects of dermatological manifestations

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    Vishalakshi Viswanath

    2013-01-01

    Full Text Available Systemic sclerosis (SSc is a chronic, multisystem connective tissue disease with protean clinical manifestations. Recent advances in understanding the pathogenic mechanisms have led to development of target-oriented and vasomodulatory drugs which play a pivotal role in treating various dermatological manifestations. An exhaustive literature search was done using Medline, Embase, and Cochrane library to review the recent concepts regarding pathogenesis and evidence-based treatment of salient dermatological manifestations. The concept of shared genetic risk factors for the development of autoimmune diseases is seen in SSc. It is divided into fibroproliferative and inflammatory groups based on genome-wide molecular profiling. Genetic, infectious, and environmental factors play a key role; vascular injury, fibrosis, and immune activation are the chief pathogenic factors. Vitamin D deficiency has been documented in SSc and correlates with the severity of skin involvement. Skin sclerosis, Raynaud′s phenomenon (RP with digital vasculopathies, pigmentation, calcinosis, and leg ulcers affect the patient′s quality of life. Immunosuppressives, biologicals, and hematopoietic stem cell transplantation are efficacious in skin sclerosis. Endothelin A receptor antagonists, calcium-channel blockers, angiotensin receptor inhibitors, prostacyclin analogs, and phosphodiesterase type 5 (PDE-5 inhibitors are the mainstay in RP and digital vasculopathies. Pigmentation in SSc has been attributed to melanogenic potential of endothelin-1 (ET-1; the role of ET 1 antagonists and vitamin D analogs needs to be investigated. Sexual dysfunction in both male and female patients has been attributed to vasculopathy and fibrosis, wherein PDE-5 inhibitors are found to be useful. The future concepts of treating SSc may be based on the gene expression signature.

  13. Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

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    Bell Sherilyn

    2007-04-01

    Full Text Available Abstract Background Neoplasia can be driven by mutations resulting in dysregulation of transcription. In the mesenchymal neoplasm, aggressive fibromatosis, subtractive hybridization identified sterile alpha motif domain 9 (SAMD9 as a substantially down regulated gene in neoplasia. SAMD9 was recently found to be mutated in normophosphatemic familial tumoral calcinosis. In this study, we studied the gene structure and function of SAMD9, and its paralogous gene, SAMD9L, and examined these in a variety of species. Results SAMD9 is located on human chromosome 7q21.2 with a paralogous gene sterile alpha motif domain 9 like (SAMD9L in the head-to-tail orientation. Although both genes are present in a variety of species, the orthologue for SAMD9 is lost in the mouse lineage due to a unique genomic rearrangement. Both SAMD9 and SAMD9L are ubiquitously expressed in human tissues. SAMD9 is expressed at a lower level in a variety of neoplasms associated with β-catenin stabilization, such as aggressive fibromatosis, breast, and colon cancers. SAMD9 and SAMD9L contain an amino-terminal SAM domain, but the remainder of the predicted protein structure does not exhibit substantial homology to other known protein motifs. The putative protein product of SAMD9 localizes to the cytoplasm. In vitro data shows that SAMD9 negatively regulates cell proliferation. Over expression of SAMD9 in the colon cancer cell line, SW480, reduces the volume of tumors formed when transplanted into immune-deficient mice. Conclusion SAMD9 and SAMD9L are a novel family of genes, which play a role regulating cell proliferation and suppressing the neoplastic phenotype. This is the first report as far as we know about a human gene that exists in rat, but is lost in mouse, due to a mouse specific rearrangement, resulting in the loss of the SAMD9 gene.

  14. Initial experience with a new quantitative assessment tool for fluorescent imaging in peripheral artery disease.

    Science.gov (United States)

    Rieß, Henrik Christian; Duprée, Anna; Behrendt, Christian-Alexander; Kölbel, Tilo; Debus, Eike Sebastian; Larena-Avellaneda, Axel; Russ, Detlef; Wipper, Sabine

    2017-08-01

    Perioperative evaluation in peripheral artery disease (PAD) by common vascular diagnostic tools is limited by open wounds, medial calcinosis or an altered collateral supply of the foot. Indocyanine green fluorescent imaging (ICG-FI) has recently been introduced as an alternative tool, but so far a standardized quantitative assessment of tissue perfusion in vascular surgery has not been performed for this purpose. The aim of this feasibility study was to investigate a new software for quantitative assessment of tissue perfusion in patients with PAD using indocyanine green fluorescent imaging (ICG-FI) before and after peripheral bypass grafting. Indocyanine green fluorescent imaging was performed in seven patients using the SPY Elite system before and after peripheral bypass grafting for PAD (Rutherford III-VI). Visual and quantitative evaluation of tissue perfusion was assessed in an area of low perfusion (ALP) and high perfusion (AHP), each by three independent investigators. Data assessment was performed offline using a specially customized software package (Institute for Laser Technology, University Ulm, GmbH). Slope of fluorescent intensity (SFI) was measured as time-intensity curves. Values were compared to ankle-brachial index (ABI), slope of oscillation (SOO), and time to peak (TTP) obtained from photoplethysmography (PPG). All measurements before and after surgery were successfully performed, showing that ABI, TTP, and SOO increased significantly compared to preoperative values, all being statistically significant (P < 0.05), except for TTP (p = 0.061). Further, SFI increased significantly in both ALP and AHP (P < 0.05) and correlated considerably with ABI, TTP, and SOO (P < 0.05). In addition to ABI and slope of oscillation (SOO), the ICG-FI technique allows visual assessment in combination with quantitative assessment of tissue perfusion in patients with PAD. Ratios related to different perfusion patterns and SFI seem to be useful tools to reduce factors

  15. [Bazex, Dupré and Christol syndrome. Apropos of a case with prolymphocytic leukemia].

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    Colomb, D; Ducros, B; Boussuge, N

    1989-01-01

    We report a case of Bazex-Dupré-Christol (BDC) syndrome in a girl who died of prolymphocytic leukaemia at the age of 10 years. This is the first published case where the syndrome is associated with a blood disease. A review of the literature has enabled us to collect the various symptoms of BDC syndrome and to discuss the relationship of the syndrome with basal cell nevomatosis. We do not think that the blood disease was incidental. The child was 5 years' old in June 1972 when she was first seen in our out-patient clinic for severe hypotrichosis which had been present at birth and involved the eyelashes and eyebrows. Examination of the skin showed numerous milia on the face, a small lenticular polycystic lesion on the right ear, follicular atrophodermia on the back of the hands and hypotrichosis of the face. The right ear lesion was removed and found to look like Winer's cutaneous calcinosis. At light microscopy, many hairs showed like pili torti or, more rarely, like trichorrhexis nodosa. Despite the absence of basal cell carcinoma, the diagnosis of BDC syndrome was regarded as final. The patient died aged 10 years of prolymphocytic leukaemia revealed by pancytopenia. Combined chemotherapy with Rubidomycin, Oncovin and methotrexate had proved ineffective. Having collected from the literature 44 adequately documented cases summarized in table I, we describe the anatomico-clinical manifestations of Bazex-Dupré-Christol syndrome. Follicular atrophodermia is present in 85 p. 100 of the cases, but its date and mode of onset are difficult to evaluate.(ABSTRACT TRUNCATED AT 250 WORDS)

  16. Scleroderma and CREST syndrome: a case report in dentistry.

    Science.gov (United States)

    Lauritano, D; Bussolati, A; Baldoni, M; Leonida, A

    2011-09-01

    CREST syndrome is part of the heterogeneous scleroderma group of autoimmune diseases that cause thickening, hardening and tightening of the connective tissue in different parts of the body, and it may lead to complex disorders. CREST syndrome is characterized by the coexistence of calcinosis, Raynaud's phenomenon, esophageal hypomotility, sclerodactily and telangectasia. A 72-year-old caucasian woman is referred to the S. Gerardo Hospital of Monza, with a chief complaint of oral pain and difficulties in deglutition and eating, associated with denture instability and difficulties to fit it. She had been previously diagnosed with Raynaud's phenomenon, and afterwards with CREST syndrome. Extra-oral examination underlined taut, thickened and rigid skin, pallid-red irregular maculae all over the face, telangiectasias and acrocyanosis. Intra-oral examination showed no alteration of the mucosa, but we can observe tongue rigidity and some speckled red alternating with white spots on the hard palate and in the vestibule. We undermitted the patient the dental treatment of Sjogren's syndrome. The management of the Sjogren's syndrome is symptomatic and empirical, and involves the use of saliva secretion stimulators, salivary substitutes and coadjuvants. Dental treatment and prophylaxis are important to prevent the consequences of xerostomia, such as rampant caries, based on the administration of topical fluoride in toothpastes and rinses, and supplemented by fluoride gels and varnishes. Instruction and reinforcement of oral hygiene, along with frequent dental assessment and management by the dentist are essential measures to preserve the oral health of those affected with CREST syndrome in progression to SS, complicated with Sjogren's syndrome.

  17. Dermatomiosite juvenil: revisão e atualização em patogênese e tratamento Juvenile dermatomyositis: review and update of the pathogenesis and treatment

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    Nilton Salles Rosa Neto

    2010-06-01

    Full Text Available A dermatomiosite juvenil (DMJ é uma doença autoimune caracterizada por vasculopatia sistêmica. Manifestações principais da DMJ incluem fraqueza muscular proximal simétrica, elevação de enzimas musculares séricas e lesões cutâneas, dentre as quais o heliotropo e as pápulas de Gottron são patognomônicas. Reconhecimento precoce e instituição rápida de terapia adequada permitem melhorar o prognóstico da doença e evitar o aparecimento de calcinose. Embora a base do tratamento seja o glicocorticoide, os imunossupressores mais frequentemente associados são metotrexato, ciclosporina, azatioprina e ciclofosfamida, dependendo da gravidade da DMJ. Atualmente investiga-se a utilidade dos imunobiológicos nos casos refratários, mas os resultados são controversos ou pouco expressivos. Pretende-se neste artigo fazer uma revisão sobre DMJ, com ênfase em recentes atualizações na sua patogênese e tratamento.Juvenile dermatomyositis (JDM is an autoimmune disease characterized by systemic vasculopathy. Its main manifestations include symmetrical proximal muscle weakness, elevated serum muscle enzymes and cutaneous lesions, among which the heliotrope and Gottron's papules are pathognomonic. Early recognition and prompt therapy allow better prognosis and prevent the development of calcinosis. Although the treatment is based on glucocorticoids, the more commonly associated immunosuppressors include methotrexate, azathioprine, cyclosporine, and cyclophosphamide, depending on the severity of disease. The use of immunobiologicals for refractory cases remains under investigation, but the results are controversial or inexpressive. In this review, we highlight recent updates on the pathogenesis and treatment of JDM.

  18. Clinical presentation and evaluation of dermatomyositis.

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    Marvi, Umaima; Chung, Lorinda; Fiorentino, David F

    2012-09-01

    Dermatomyositis (DM) is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron's papules, Gottron's sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic's hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.

  19. Hepatobiliary involvement in systemic sclerosis and the cutaneous subsets: Characteristics and survival of patients from the Spanish RESCLE Registry.

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    Marí-Alfonso, Begoña; Simeón-Aznar, Carmen Pilar; Guillén-Del Castillo, Alfredo; Rubio-Rivas, Manuel; Trapiella-Martínez, Luis; Todolí-Parra, José Antonio; Rodríguez Carballeira, Mónica; Marín-Ballvé, Adela; Iniesta-Arandia, Nerea; Colunga-Argüelles, Dolores; Castillo-Palma, María Jesús; Sáez-Comet, Luis; Egurbide-Arberas, María Victoria; Ortego-Centeno, Norberto; Freire, Mayka; Vargas Hitos, José Antonio; Chamorro, Antonio-J; Madroñero-Vuelta, Ana Belen; Perales-Fraile, Isabel; Pla-Salas, Xavier; Fernández-De-La-Puebla, Rafael A; Fonollosa-Pla, Vicent; Tolosa-Vilella, Carles

    2017-10-06

    To assess the prevalence and causes of hepatobiliary involvement (HBI) in systemic sclerosis (SSc), to investigate the clinical characteristics and prognosis of SSc patients with HBI (SSc-HBI) and without HBI (SSc-non-HBI), and to compare both groups according to the cutaneous SSc subsets. In all, 1572 SSc patients were collected in the RESCLE registry up to January 2015, and all hepatobiliary disturbances were recorded. We investigated the HBI-related characteristics and survival from the entire SSc cohort and according to the following cutaneous subsets: diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc), and SSc sine scleroderma (ssSSc). Out of 1572, 118 (7.5%) patients had HBI. Primary biliary cholangitis (PBC) was largely the main cause (n = 67, 4.3%), followed by autoimmune hepatitis (n = 19, 1.2%), and anti-mitochondrial negative PBC (n = 6, 0.4%). Other causes of HBI were as follows: secondary liver diseases (n = 11, 0.7%), SSc-related HBI (n = 7, 0.4%), nodular regenerative hyperplasia (n = 3, 0.2%), liver cirrhosis (n = 3, 0.2%), and HBI of unknown origin (n = 2, 0.1%). In multivariate analysis, HBI was independently associated to lesser risk of dcSSc (5.1% vs. 24.4%), and higher frequency of calcinosis (26% vs. 18%), left ventricular diastolic dysfunction (46% vs. 27%), sicca syndrome (51% vs. 29%), and anti-centromere antibodies (ACA, 73% vs. 44%). According to the cutaneous subsets, HBI was associated (1) in lcSSc, to longer time from SSc onset to diagnosis (10.8 ± 12.5 vs. 7.2 ± 9.3 years), sicca syndrome (54% vs. 33%), and ACA (80% vs. 56%); (2) in ssSSc, to sicca syndrome (44% vs. 19%), and (3) in dcSSc, no associations were found. HBI was the cause of death in 2.3% patients but the cumulative survival according to the presence or absence of HBI showed no differences. HBI prevalence in SSc is 7.5% and dcSSc is the least involved subset. PBC is the main cause of HBI. Patients with SSc-HBI exhibited specific clinical and immunologic

  20. Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

    Science.gov (United States)

    Krishna, Shri H; McKinney, Alexander M; Lucato, Leandro T

    2014-04-01

    neurodegenerative disorders of brain iron accumulation. Additionally, an arbitrary "miscellaneous" category of 5 recognizable disorders that may present in or persist into adulthood is summarized, which include megalencephalic leukoencephalopathy with subcortical cysts (megancephalic leukoencephalopathy with subcortical cysts or van der Knaap disease), polymerase-III gene defect ("4H syndrome"), childhood ataxia with central nervous system hypomyelination ("vanishing white matter disease"), striopallidodentate calcinosis ("Fahr disease"), and Cockayne syndrome. © 2013 Published by Elsevier Inc.

  1. Mucocutaneous and demographic features of systemic sclerosis: A profile of 46 patients from Eastern India

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    Sudip Kumar Ghosh

    2012-01-01

    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

  2. Influence of diet on calcium metabolism, tissue calcification and urinary sludge in rabbits (Oryctolagus cuniculus).

    Science.gov (United States)

    Clauss, M; Burger, B; Liesegang, A; Del Chicca, F; Kaufmann-Bart, M; Riond, B; Hässig, M; Hatt, J-M

    2012-10-01

    Rabbits absorb more calcium (Ca) from their diet than they require, and excrete surplus via urine, which therefore contains a typical 'sludge'. This makes rabbits susceptible to Ca-containing uroliths. But given the Ca content of diets of free-ranging specimens, and the limited reports of urinary sludge and Ca contents in free-ranging lagomorphs, we can suspect that rabbits are naturally adapted to high urinary Ca loads. We fed four groups of New Zealand hybrid rabbits [n = 28, age at start 5-6 weeks) pelleted diets consisting of lucerne hay only (L, Ca 2.32% dry matter (DM)], lucerne:oats 1:1 (LG, Ca 1.36%), grass hay only (G, Ca 1.04%), or grass:oats 1:1 (GG, 0.83%) for 25 weeks, with water available ad libitum. Diets were not supplemented with Ca, phosphorus, or vitamin D. Rabbits on diets LG and GG had lower food and water intakes, lower faeces and urine output, grew faster and had higher body mass at slaughter (mainly attributable to adipose tissue). Apparent Ca digestibility decreased in the order L-LG-G/GG. Rabbits on L had larger and heavier kidneys, more urinary sediment at sonography, and a higher urinary Ca content than the other groups. No animal showed signs of urolithiasis/calcinosis at X-ray, sonography, or gross pathology. Kidney/aorta histology only sporadically indicated Ca deposits, with no systematic difference between groups. Under the conditions of the experiment, dietary Ca loads in legume hay do not appear problematic for rabbits, and other factors, such as water supply and level of activity may be important contributors to urolithiasis development in veterinary patients. However, due to the lower Ca content of grass hay, the significantly lower degree of urinary sludge formation, and the significantly higher water intake related with grass hay feeding, grass hay-dominated diets are to be recommended for rabbits in which urolithiasis prevention is an issue. © 2011 Blackwell Verlag GmbH.

  3. Increased prevalence of anti-third generation cyclic citrullinated peptide antibodies in patients with rheumatoid arthritis and CREST syndrome.

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    Wu, R; Shovman, O; Zhang, Y; Gilburd, B; Zandman-Goddard, G; Shoenfeld, Yehuda

    2007-02-01

    To investigate the prevalence of anti-third generation cyclic citrullinated peptide antibodies (anti-CCP3) in patients with systemic connective tissue diseases, we assembled a training set consisting of 115 patients with rheumatoid arthritis (RA), 52 with Calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia (CREST) syndrome, 21 with scleroderma, 20 with ankylosing spondylitis, 18 with reactive arthritis, 25 with juvenile rheumatoid arthritis (RA), 51 with osteoarthritis, 26 with mixed connective tissue disease, 23 with primary Sjogren's syndrome, 74 with systemic lupus erythematosus, 49 with Polymyalgia rheumatica, and 39 with polymyositis/dermatomyositis. The commercial enzyme-linked immunosorbent assay (ELISA) was used to detect anti-CCP antibodies, including anti-CCP2 (regular, second generation of CCP antigen) and anti-CCP3 (third generation of CCP antigen) in disease-related specimens and normal controls. These serum samples were also evaluated for anti-centomere antibodies by anti-centromere ELISA kit. The higher frequencies of anti-CCP3 and anti-CCP2 were detected in 75.6 and 70.4% patients with RA, respectively. At the same time, anti-CCP3 (not anti-CCP2) was significantly increased in samples isolated from patients with CREST syndrome. The clinical sensitivity of IgG anti-CCP3 for the patients with CREST syndrome was 29% (15 of 52) and the specificity was 96% (384 of 397), with the exception of the RA group. The anti-centromere antibodies were significantly higher in patients with CREST only. The results of our study suggest that compared to anti-CCP2 assay, the new anti-CCP3 assay can enhance the clinical sensitivity for diagnosis of RA and, as an associate marker combined with anticentromere, can distinguish CREST syndrome from other systemic connective tissue diseases, especially RA. The clinical specificity of anti-CCP3 was lower than anti-CCP2 assay in diagnosis of RA because of the crossreaction to the patients

  4. 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

    Directory of Open Access Journals (Sweden)

    Thelma Larocca Skare

    2011-12-01

    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.

  5. Thymic atrophy in cattle poisoned with Solanum glaucophyllum Atrofia do timo em bovinos intoxicados por Solanum glaucophyllum

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    Paula A. Fontana

    2009-03-01

    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

  6. CT in the study of thoracic-pulmonary complications after liver transplantation; La Tomografia Computerizzata nello studio delle complicanze toraco-polmonari dopo trapianto del fegato

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    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

    2000-12-01

    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