Abstract
Pulmonary arterial hypertension (PAH) is an important complication of connective tissue diseases (CTD) and especially seen in systemic sclerosis, systemic lupus erythematosis (SLE), and mixed connective tissue disease (MCTD). In systemic sclerosis, PAH is isolated or accompanied by interstitial lung...
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PMID: 20819768
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Abstract
Our experience demonstrates that (18)F-FDG PET is a unique imaging technique for assessing the metabolic activity throughout the body in those with a connective tissue disease. The technique appears to be a promising imaging modality for detecting coexistent neoplastic diseases and other autoimmune...
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PMID: 20661690
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Abstract
Pinguecula was seen more frequently in patients with TO than in both control groups. Lid retraction was the only clinical factor determined with significant impact on the prevalence of pinguecula in patients with TO. Impaired tear function did not influence pinguecula prevalence in patients with TO,...
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PMID: 20458231
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Abstract
Connective tissue disease-associated pulmonary arterial hypertension (PAH) is mostly related to systemic sclerosis, overlap syndromes with features of systemic sclerosis, mixed connective tissue disease, and systemic lupus erythematosus. It is an important cause of mortality in these conditions and...
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PMID: 20375662
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Abstract
Our working group has developed a consensus on nomenclature, technical equipment, procedure, and diagnostic interpretation of results. The following are required: binocular microscopes with at least 20-/50- and 160-/200-fold magnification and digital archiving. Documentation of defined findings is m...
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PMID: 20309697
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Abstract
We performed a clinical, ultrastructural and molecular study in a consanguineous Algerian family with three siblings affected by a distinctive autosomal recessive genodermatosis, reported in 2005 by Verloes et al. The most striking clinical features include progressive facial coarsening, gingival hy...
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PMID: 20424861
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Abstract
A subcutaneous endoscopic approach can be applied effectively to a variety of benign lesions of the trunk and lower extremities with adequate exposure for dissection and resulting in a quick recovery. Truncal and lower extremity scarring is absent, with small scars well hidden in either the axilla o...
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PMID: 20385299
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Abstract
The total amount of lipoaspirates varied between 1500 mL and 4800 mL. Pain could be reduced in all four patients with Dercum's disease. Large adipose tissue removing implies a better the outcome for pain. Patient's satisfaction was "high" or "very high" in 5 and "medium" in one. The most common adve...
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PMID: 20467389
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Abstract
We describe a 5-year-old girl who developed bilateral staphylococcal sub-Tenon's abscess resistant to fourth-generation fluoroquinolones that resolved completely after surgical drainage and irrigation with povidone iodine followed by administration of oral amoxicillin and clavulanic acid. A lost mus...
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PMID: 20304690
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Abstract
Extensor tendons in normal and rheumatoid wrists were well depicted by 3DCT imaging. In the rheumatoid wrists, extensors of the ring and little fingers and the thumb were depicted more accurately than those to the other fingers. 3DCT imaging was clinically applicable to wrists for which it was diffi...
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PMID: 19662401
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Abstract
Peripheral neuropathy in DM/PM often suggests a complication with cancer, other CTDs, diabetes or CTS. From a practical point of view, NCS for DM/PM may help find the underlying disorders....
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PMID: 20367974
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Abstract
The prevalence of AECAs was 82.1% in CTD patients with PAH, 72.7% in CTD patients without PAH, and 20.0% in healthy donors. Anti-22 kD AECA was only detected in CTD patients with PAH (15.4%). Anti-75 kD AECA was more frequently detected in CTD patients with PAH than in those without PAH (51.3% vs. 2...
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PMID: 20449950
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Abstract
Fever is a common complaint leading families to seek medical attention. Its routine management is the bread and butter of pediatric practice. When fever is seen as prolonged beyond the expected time course (eg, 10 days for a presumed viral respiratory tract infection or 3 weeks for m...
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PMID: 20164070
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Abstract
There were 16 women and nine men, mean age 55 years. Eleven patients were smokers. Raynaud's phenomenon was noted in 12 cases. Connective tissue diseases were the most common cause (nine cases), all of them were women. The second cause was atherosclerosis (five cases) and Buerger's disease (five cas...
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PMID: 19959303
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Abstract
We excluded left ventricular heart failure and left ventricular hypertrophy, BNP concentration was correlated with systolic pulmonary arterial pressure (r = 0.508, P < 0.05). Among other variables tested, ECG electrical axis was correlated with pulmonary arterial pressure (r = 0.46, P < 0.05) but ur...
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PMID: 20966607
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Abstract
Since the discovery by this laboratory of the zinc finger transcription factor, KLF10, a member of the Krüppel-like family of transcription factors, there have been multiple publications regarding its functions and its immediate family members, in numerous cell types. KLF10 has been shown to be rap...
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PMID: 20087894
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Abstract
The prevalence of PAH in patients with connective tissue disease was about 4.2%(79/1892). In these patients, systemic sclerosis (SSc) and mixed connective tissue disease (MCTD) had the highest incidence of PAH (18.18% and 12.00%) (P < 0.01). It was obviously higher than polymyositis/dermatomyositis...
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PMID: 20137654
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Abstract
Among connective tissue diseases, pulmonary arterial hypertension (PAH) is frequently associated with systemic sclerosis and systemic lupus erythematosus. PAH is less common in mixed connective tissue diseases and Sjögren's syndrome, and rare in rheumatoid arthritis. PAH in systemic sclerosis may b...
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PMID: 20669554
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Abstract
We evaluated simultaneous detection of 11 ANA and clinical utility as ANA screening test. We collected sera from 317 connective tissue disease (CTD) patients, 166 healthy subjects, and 105 sera in which anti dsDNA antibody(RIA) is requested. Detection of 11 ANA were measured by BioPlex2200 ANA Scree...
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PMID: 19928490
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Abstract
Pruritus is a common symptom reported in connective tissue and other common systemic disease states. Unfortunately, the unique pathophysiologic etiology of the often chronic and severe pruritus that is a debilitating component of many connective tissue disorders makes treatment with conventional ant...
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PMID: 19911676
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Abstract
Pulmonary arterial hypertension is a rare disease of small pulmonary arteries of unknown origin characterised by endothelial dysfunction and cellular proliferation throughout all vessel layers, resulting in progressively elevated pulmonary arterial resistance with increasing right heart strain and f...
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PMID: 19593574
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Abstract
Vasculitis and connective tissue disease are often associated with interstitial lung disease. Involvement of lung parenchyma is found in small vessel vasculitis and mostly in ANCA-associated forms such as Wegener's granulomatosis. In addition to vasculitis and connective tissue disease, rheumatoid a...
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PMID: 19760426
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Abstract
The mean pulmonary artery pressure was 54.7+/-18.8 mmHg. Functional capacity was NYHA class II in nine patients (17.7%), class III in 28 patients (54.9%), and class IV in 14 patients (27.5%). Thirty-seven patients (72.6%) received treatment with specific pharmacological agents, in whom 19 patients (...
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PMID: 20019450
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Abstract
Oxyproline is one of the major collagen amino acids, which enables it to be regarded as a marker that reflects the catabolism of this protein. The purpose of this investigation was to ascertain the diagnostic value of free oxyproline in patients with hereditary and acquired collagenoses. The examine...
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PMID: 19882864
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Abstract
The purpose of this study is to study and systematize the current knowledge about the role of capillaroscopy in differentiation of primary and secondary Raynaud's phenomenon (RP) in rheumatic diseases. This method is a review of the literature. Capillaroscopy is of crucial value for diagnosis and di...
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PMID: 19547979
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Abstract
As compared with the baseline values, the systolic pulmonary artery pressure and pulmonary vascular resistance significantly decreased [(71 +/- 30) vs (80 +/- 29) mm Hg and (712 +/- 440) vs (824 +/- 464) dyn x s x cm(-5) respectively, both P < 0.05) while the heart rate increased significantly [(93...
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PMID: 20058611
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Abstract
We describe the pregnancy and delivery with this high-risk connective tissue disorder involving generalized abnormalities of the vasculature. CASE: A woman with an undefined connective tissue disorder was referred for tertiary prenatal care. Diagnostic imaging demonstrated multiple pulmonary artery...
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PMID: 19622975
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Zhi-Cheng Jing,
Xi-Qi Xu,
David B Badesch,
Xin Jiang,
Yan Wu,
Jin-Ming Liu,
Yong Wang,
Lei Pan,
Hui-Ping Li,
Jie-Lin Pu,
Zhuo-Li Zhang and
Yue-Jin Yang
Abstract
Airway obstruction is common in IPAH, CHD-PAH and CTD-PAH patients. CTD-PAH patients have lower DL(CO). Hemodynamics, serum markers and exercise capacity parameters did not correlate well with pulmonary function indices....
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PMID: 19403296
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Abstract
We analysed clinical characteristics and plasma ADAMTS13 levels in 127 patients with CTD-TMAs, including patients with systemic lupus erythematosus (SLE), systemic sclerosis, polymyositis/dermatomyositis, and rheumatoid arthritis (RA), and 64 patients with acquired idiopathic thrombotic thrombocytop...
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PMID: 19652889
PDF is available here.
Abstract
BACKGROUND: Dermatologic complaints are a common reason for presentation to a general practitioner. In some cases, one needs to determine if the complaint may be a manifestation of a more serious underlying systemic disease. OBJECTIVE: This article aims to highlight common dermatologic presentations...
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PMID: 19575068
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Abstract
We quantified IL-1beta, TNF-alpha, and IL-8 and compared gene expression of PPAR-gamma, NF-kappaBIA, IL-8, IL-1beta, CXCL3, tryptase, and TNF-alpha in macrophages of familial hypercholesterolemia subjects with and without TX stimulated with oxidized low-density lipoprotein at 1, 3, 6, and 18 h of in...
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PMID: 19448742
PDF is available here.
Abstract
We present the basic knowledge about these connective tissue disorders, and we mention new insights in the recently explored pathophysiology of the disorder which is a possible target for future medical treatment options. Furthermore, recent new concepts for the prophylactic treatment of the aortic...
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PMID: 19554831
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Abstract
Evolution of immunopathological diseases is usually slow and progressive. Non-differentiated collagen disease (NDC) or the term "undifferentiated connective tissue disease" (UCTD) represents a stage of disease where clinical symptoms and serological abnormalities suggest autoimmune disease, but they...
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PMID: 19403430
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Abstract
We present a system that classifies the staining pattern of positive wells on the strength of the recognition of their cells. The core of the CAD is a multiple expert system (MES) based on the one-per-class approach devised to label the pattern of single cells. It employs a hybrid approach since eac...
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PMID: 19171521
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Abstract
The most prevalent diseases related to the nuclear keratinocyte DIF staining were systemic lupus erythematosus (n = 9), mixed CTD (n = 3), overlap syndrome (n = 3), Sjögren's syndrome (n = 1), and CREST (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia)...
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PMID: 19040522
PDF is available here.
Abstract
All plasma markers but sL-S and TM at Time 0 were significantly higher in patients compared with controls. After 3 months of therapy, decreased levels were noted in NO (Time 0 24.05+/-6.01 mmol/l, Time 1 13.92+/-3.40 mmol/l; p<0.001) and sCD40L (Time 0 1685.33+/-866 pg/ml, Time 1 1055.11+/-630.6 pg/...
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PMID: 19208592
PDF is available here.
Abstract
We document that only very few CAD patients are affected by known inherited connective tissue disorders like Ehlers-Danlos syndrome, Marfan syndrome or Osteogenesis Imperfecta. In a second part of this review we discuss the possible role of unrecognized or unknown forms of connective tissue disorder...
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PMID: 19275629
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Abstract
Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue function, and mutations in ECM genes result in a wide range of serious inherited connective tissue disorders. Mutations cause ECM dysfunction by combinations of two mechanisms. First, secretion of the mutated...
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PMID: 19204719
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Abstract
Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while many genotype-phenotype correlations have been reported, few have been consistent. In this study FBN1 was analyzed in 113 patients with MFS o...
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PMID: 19161152
PDF is available here.
Abstract
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from genetic mutations in the transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2). The syndrome is characterized phenotypically by hypertelorism, bifid uvula, and/or cleft palate, and arterial...
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PMID: 18852674
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Abstract
We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fiss...
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PMID: 19551629
PDF is available here.
Abstract
Mid-dermal elastolysis is a rare peculiar entity clinically characterized by fine wrinkles and perifollicular protrusions that give the skin an aged or peau d'orange appearance. The histopathologic correlate is a bandlike loss of elastic tissue within the mid-dermis.We present a typical case with pr...
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PMID: 19054426
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Abstract
The study included 68 patients aged 18-32 years with newly diagnosed type 1 diabetes (DM) and/or undifferentiated connective tissue dysplasia (CTD). Ten healthy subjects without clinical symptoms of CTD served as controls. Induced platelet aggregation, Willebrand factor activity, plasma thromboxane...
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PMID: 19565829
PDF is available here.
Abstract
An increasing number of patients under 40 years of age are being hospitalized with the diagnosis of acute myocardial infarction. This is partly due to the increased prevalance of risk factors for atherosclerosis in the younger age group; especially increased incidence of impaired fasting glucose, hi...
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PMID: 20083887
PDF is available here.
Abstract
INTRODUCTION: Immunofluorescence (IF) is a laboratory technique introduced to dermatology in 1960s for the purposes of investigating the patophysiology and establishing the diagnosis of skin diseases, particularly autoimmune bullous diseases and connective tissues diseases. There are three basic typ...
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PMID: 20491380
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Abstract
We examined the sera of 100 patients with different CTD by IIF-HEp2 and detected a prevalence of 38% IgA-ANA (titles > or = 1:80) and 12% IgM-ANA (titles < or = 1:160). In twenty nine cases we detected IgA-ANA in absence of IgM-ANA, and in 3 cases IgM-ANA in absence of IgA-ANA. In all the cases IgG-...
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PMID: 19897433
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