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"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Interstitial pneumonia with autoimmune features (IPAF) is a term to describe individuals with both interstitial lung disease (ILD) and combinations of other clinical, serologic, and/or pulmonary morphologic features, which presumably originate from an underlying systemic autoimmune condition, but do not meet current rheumatologic criteria for a defined connective tissue disease (CTD). Predominantly, interstitial pneumonia arises in the course of an established CTD, but it is not so rare for the ILD to be the first, and possibly the one and only manifestation of a latent CTD. Lymphocytic Interstitial Pneumonia (LIP) is an uncommon disease, characterized by infiltration of the interstitium and alveolar spaces of the lung by lymphocytes, plasma cells and other lymphoreticular elements. The cause of LIP is still unknown but it could be also a manifestation of CTD. Clinically, it is highly variable, from spontaneous resolution to progressive respiratory failure and death despite glucocorticoid treatment. Since there are no recent standards for the management of LIP, the disease is treated empirically. We report a case of a HIV-negative 54-year-old woman, who was suspected of LIP according to clinical features and radiological findings. Positive laboratory results were highly suggestive of underlying autoimmune process, but did not fulfil the criteria of any particular CTD. Because of severe general condition of the patient, immunosuppressive treatment was started immediately, without further invasive diagnostics including lung biopsy, which is required for a definitive diagnosis. We present two-year observation of the patient with all our doubts concerning clinical proceedings.

Pneumatosis cystoides intestinalis (PCI) is a rare disease that involves the presence of gas in the intestinal wall. Connective tissue disease (CTD) is a major cause of secondary PCI. In addition to the nature of CTDs, the use of prednisolone and some immunosuppressants, and the presence of complicating diseases such as diabetes mellitus, constipation and pulmonary diseases are involved in the development of PCI. This report describes four cases of PCI with different CTDs (granulomatosis with polyangiitis, rheumatoid arthritis, dermatomyositis, and overlap syndrome) and discusses the background of each patient and common risk factors for the occurrence of PCI.

Desmosis coli is a rare pathology presenting as slow transit constipation. In this case we would like to discuss the presentation and management of desmosis coli. A 14-month-old female hailing from western India with a history of chronic constipation presented with acute massive abdominal distension and vomiting. At laparotomy, a hugely dilated transverse and sigmoid colon with a transition zone at the lower sigmoid was found. A transverse stoma was done after taking multiple sero-muscular biopsies. The patient underwent re-exploration on day 14 because of the non-functioning of the stoma and a fixed bowel loop. The histopathology report was suggestive of normal ganglion cells. Unfortunately, the stoma continued not to function. A dye study showed dye in the colon after 24 hours ruling out any anatomical obstruction. Histopathology slides were reviewed multiple times and reported lack of connective tissue of the colonic wall leading to the diagnosis of desmosis coli. The patient was started on gradual feeds and pro-kinetics and over the next 2 weeks the stoma started functioning slowly. Desmosis coli is a rare cause of constipation which should be suspected in cases where aganglionosis has been ruled out and the constipation is refractory to conventional therapy.

A 56-year-old man presented with a painless prepatellar mass of the left knee. MR images demonstrated a large, well-defined mass with heterogeneous intermediate signal intensity on T1- and proton density-weighted images. Mild, heterogeneous enhancement was noted after the intravenous administration of gadolinium. Diagnostic imaging included atypical soft-tissue infection, fibrogranulomatous reaction, gouty tophus, rheumatoid nodule and xanthoma or possibly malignancy. The histopathological examination revealed sarcoidosis involving the prepatellar bursa.

The IgG4-associated diseases of connective tissue are caused by allergen-mediated autoimmune processes. The retroperitoneum, mesentery and mediastinum as well as other less common localizations, such as the neck, orbit and periarticular connective tissue can be affected. Inflammatory fibrosis is initially dominated by a lymphocytic and plasma cell-rich infiltrate and later by cell-poor storiform fibrosis. Stenosis and occlusion of vessels, ureters and intestines can cause severe complications. Computed tomography (CT) and magnetic resonance imaging (MRI) can be implemented in the diagnostic algorithm to narrow the differential diagnosis, delineate the distribution of fibrosis and reveal complications.

Background: To evaluate computer-based computer tomography (CT) analysis (CALIPER) against visual CT scoring and pulmonary function tests (PFTs) when predicting mortality in patients with connective tissue disease-related interstitial lung disease (CTD-ILD). To identify outcome differences between distinct CTD-ILD groups derived following automated stratification of CALIPER variables., Methods: A total of 203 consecutive patients with assorted CTD-ILDs had CT parenchymal patterns evaluated by CALIPER and visual CT scoring: honeycombing, reticular pattern, ground glass opacities, pulmonary vessel volume, emphysema, and traction bronchiectasis. CT scores were evaluated against pulmonary function tests: forced vital capacity, diffusing capacity for carbon monoxide, carbon monoxide transfer coefficient, and composite physiologic index for mortality analysis. Automated stratification of CALIPER-CT variables was evaluated in place of and alongside forced vital capacity and diffusing capacity for carbon monoxide in the ILD gender, age physiology (ILD-GAP) model using receiver operating characteristic curve analysis., Results: Cox regression analyses identified four independent predictors of mortality: patient age (P < 0.0001), smoking history (P = 0.0003), carbon monoxide transfer coefficient (P = 0.003), and pulmonary vessel volume (P < 0.0001). Automated stratification of CALIPER variables identified three morphologically distinct groups which were stronger predictors of mortality than all CT and functional indices. The Stratified-CT model substituted automated stratified groups for functional indices in the ILD-GAP model and maintained model strength (area under curve (AUC) = 0.74, P < 0.0001), ILD-GAP (AUC = 0.72, P < 0.0001). Combining automated stratified groups with the ILD-GAP model (stratified CT-GAP model) strengthened predictions of 1- and 2-year mortality: ILD-GAP (AUC = 0.87 and 0.86, respectively); stratified CT-GAP (AUC = 0.89 and 0.88, respectively)., Conclusions: CALIPER-derived pulmonary vessel volume is an independent predictor of mortality across all CTD-ILD patients. Furthermore, automated stratification of CALIPER CT variables represents a novel method of prognostication at least as robust as PFTs in CTD-ILD patients.

Connective tissue diseases (CTDs) are a heterogeneous group of conditions characterized by circulating autoantibodies and autoimmune-mediated organ damage. Common CTDs with lung manifestations are rheumatoid arthritis, scleroderma or systemic sclerosis, Sjögren syndrome, polymyositis/dermatomyositis, systemic lupus erythematosis, mixed connective tissue disease, and undifferentiated connective tissue disease. The most common histopathologic patterns of CTD-related interstitial lung disease are nonspecific interstitial pneumonia, usual interstitial pneumonia, organizing pneumonia, and lymphoid interstitial pneumonia. Drug treatment of CTDs can cause complications, including opportunistic infection., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Targeted therapies in connective tissue diseases (CTDs) have led to improvements of disease-associated outcomes, but life expectancy remains lower compared to general population due to emerging co-morbidities, particularly due to excess cardiovascular risk. Cardiovascular magnetic resonance (CMR) is a noninvasive imaging technique which can provide detailed information about multiple cardiovascular pathologies without using ionizing radiation. CMR is considered the reference standard for quantitative evaluation of left and right ventricular volumes, mass and function, cardiac tissue characterization and assessment of thoracic vessels; it may also be used for the quantitative assessment of myocardial blood flow with high spatial resolution and for the evaluation of the proximal coronary arteries. These applications are of particular interest in CTDs, because of the potential of serious and variable involvement of the cardiovascular system during their course. The International Consensus Group on CMR in Rheumatology was formed in January 2012 aiming to achieve consensus among CMR and rheumatology experts in developing initial recommendations on the current state-of-the-art use of CMR in CTDs. The present report outlines the recommendations of the participating CMR and rheumatology experts with regards to: (a) indications for use of CMR in rheumatoid arthritis, the spondyloarthropathies, systemic lupus erythematosus, vasculitis of small, medium and large vessels, myositis, sarcoidosis (SRC), and scleroderma (SSc); (b) CMR protocols, terminology for reporting CMR and diagnostic CMR criteria for assessment and quantification of cardiovascular involvement in CTDs; and (c) a research agenda for the further development of this evolving field., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Connective tissues diseases (CTDs) can also be diagnosed early by "external" and safe imaging methods beyond the visceral organ analysis. This study aims to explore various imaging techniques used in diagnosing CTDs. Skin impairment in systemic sclerosis (SSc) may be recognized and studied by the modified Rodnan skin score (mRSS), which has some drawbacks, whereas high-frequency ultrasound (US) seems advantageous for the early identification of skin involvement. Salivary gland involvement in Sjögren syndrome (SS) can be assessed using standard tests such as unstimulated salivary flow test, salivary gland scintigraphy or contrast sialography. However, US of the major salivary glands, as an alternative, seems a reliable method with good sensitivity and specificity for the diagnosis of SS. Both the qualitative and quantitative nailfold capillaroscopic (NVC) assessments in SSc patients affected by the Raynaud's phenomenon (RP) may assist in making a differential diagnosis between primary and secondary RP. Microcirculatory imaging by NVC, along with the laser Doppler analysis, seems useful in the prediction of complications and prognosis in CTDs (i.e. SSc) and in monitoring therapeutic trials., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Objectives: Patients with a diagnosed systemic connective tissue disease require regular monitoring from the point of view of interstitial lung disease. The main aim of this work is a description of the criteria for pulmonary fibrosis and the degree of the severity of the fibrosis during the course of interstitial lung disease through the TLU (transthoracic lung ultrasound)., Materials and Methods: 52 patients with diagnosed diffuse interstitial lung disease were qualified for this research, together with 50 volunteers in the control group. The patients in both groups were over 18 years of age and were of both sexes. The results of the TLU of the patients underwent statistical analysis and were compared to High-Resolution Computed Tomography (HRCT) results., Results: As a consequence of the statistical analysis, we defined our own criteria for pulmonary fibrosis in TLU: irregularity of the pleura line, tightening of the pleura line, the fragmentary nature of the pleura line, blurring of the pleura line, thickening of the pleura line, artifacts of line B ≤ 3 and ≥ 4, artifacts of Am line and subpleural consolidations < 5 mm. As a result of the conducted research, a scale of severity of pulmonary fibrosis in TLU was devised (UFI - Ultrasound Fibrosis Index), enabling a division to be made into mild, moderate and severe cases., Conclusions: Transthoracic Lung Ultrasonography (TLU) gives a new outlook on the diagnostic possibilities, non-invasive and devoid of ionising radiation, of pulmonary fibrosis. This research work has allowed to discover two new ultrasound symptoms of pulmonary fibrosis (blurred pleural line and Am lines)., (© Georg Thieme Verlag KG Stuttgart · New York.)

Introduction: Stickler syndrome is a connective tissue disorder characterized by orofacial, ocular, skeletal and auditory symptoms. The orofacial phenotype mainly consists of midfacial hypoplasia, micrognathia and cleft palate. Large phenotypic variability is evident though. Few studies have tried to substantiate the typical facial appearance in Stickler syndrome patients., Methods: Molecularly confirmed Stickler patients were invited to undergo cephalometric analysis based on a lateral radiograph in standardized conditions. Angular and linear measurements were performed according to Steiner's and Sassouni's analysis and compared with age- and gender-matched reference values., Results: Thirteen patients aged 10-62y were included, twelve of whom had type 1 Stickler syndrome (COL2A1 mutation) and one type 2 Stickler syndrome (COL11A1 mutation). The position of maxilla and mandible relative to the cranial base was not significantly different from the reference population (S-N-A: p = 0.73, S-N-B: p = 0.43). The mandibular plane and y-axis showed an elevated angle with the cranial base in most patients, although not significant for the total group (S-N to Go-Me: p = 0.20, S-N to S-Gn: p = 0.18). Dental analysis was normal, except for a higher overjet value (p = 0.006) and a higher angle between occlusal plane and Frankfort plane (p = 0.022)., Conclusion: Cephalometric analysis was not able to thoroughly prove the abnormal facial appearance in Stickler syndrome. The majority of patients had normal dentofacial proportions. The most frequently observed anomaly in our series is a rather short and posteriorly rotated mandible, but clinical variability is high., (Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

We review the imaging appearance of connective tissue diseases of the head and neck. Bilateral sialadenitis and dacryoadenitis are seen in Sjögren's syndrome; ankylosis of the temporo-mandibular joint with sclerosis of the crico-arytenoid joint are reported in rheumatoid arthritis and lupus panniculitis with atypical infection are reported in patients with systemic lupus erythematosus. Relapsing polychondritis shows subglottic stenosis, prominent ear and saddle nose; progressive systemic sclerosis shows osteolysis of the mandible, fibrosis of the masseter muscle with calcinosis of the subcutaneous tissue and dermatomyositis/polymyositis shows condylar erosions and autoimmune thyroiditis. Vascular thrombosis is reported in antiphospholipid antibodies syndrome; cervical lymphadenopathy is seen in adult-onset Still's disease, and neuropathy with thyroiditis reported in mixed connective tissue disorder. Imaging is important to detect associated malignancy with connective tissue disorders. Correlation of the imaging findings with demographic data and clinical findings are important for the diagnosis of connective tissue disorders., (© The Author(s) 2016.)

Systemic vasculopathies represent a wide spectrum of heterogeneous vascular disorders characterized by variable target vessel involvement, vascular abnormalities, and end organ damage. The revised 2012 Chapel Hill Consensus Conference scheme classifies systemic vasculitis syndromes into primary systemic, secondary systemic, single-vessel, and variable-vessel vasculitis categories with associated management implications. Multimodality imaging not only allows diagnosis, characterization, and localization of vascular abnormalities but also permits evaluation of natural history and complications, thus, facilitating optimal patient management. This article discusses epidemiologic and radiologic characteristics of several common systemic vasculopathies with an emphasis on the role of endovascular therapy for management of select disorders., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Micro- and macrovascular pathology is a frequent finding in a number of common rheumatic diseases. Secondary Raynaud's phenomenon (RP) is among the most common symptoms in systemic sclerosis and several other systemic autoimmune diseases including a broad differential diagnosis. It should be also differential from other peripheral vascular syndromes such as embolism, thrombosis, etc., some of which lead to clinical manifestation of the blue toe syndrome. The current review discusses the instrumental methods for vascular assessments. Nailfold capillaroscopy is the only method among the imaging techniques that can be used for morphological assessment of the nutritive capillaries in the nailfold area. Laser-Doppler flowmetry and laser-Doppler imaging are methods for functional assessment of microcirculation, while thermography and plethysmography reflect both blood flow in peripheral arteries and microcirculation. Doppler ultrasound and angiography visualize peripheral arteries. The choice of the appropriate instrumental method is guided by the clinical presentation. The main role of capillaroscopy is to provide differential diagnosis between primary and secondary RP. In rheumatology, capillaroscopic changes in systemic sclerosis have been recently defined as diagnostic. The appearance of abnormal capillaroscopic pattern inherits high positive predictive value for the development of a connective tissue disease that is higher than the predictive value of antinuclear antibodies. In cases of abrupt onset of peripheral ischaemia, clinical signs of critical ischaemia, unilateral or lower limb involvement, Doppler ultrasound and angiography are indicated. The most common causes for such clinical picture that may be referred to rheumatologic consultation are the antiphospholipid syndrome, mimickers of vasculitides such as atherosclerosis with cholesterol emboli, and neoplasms.

Importance: Computed tomographic (CT) scans are often obtained before mandibular distraction osteogenesis in patients with isolated Pierre Robin sequence. There is concern regarding the risk of radiation exposure from CT in children., Objective: To evaluate whether preoperative CT is necessary for adequate airway, feeding, and aesthetic outcomes following mandibular distraction with external distraction devices in infants with isolated Pierre Robin sequence., Design, Setting, and Participants: In a retrospective review of medical records, infants who underwent mandibular distraction between January 1, 1998, and September 30, 2014, at 2 tertiary children's hospitals were identified using procedure codes. Data analysis was conducted December 1, 2014, to March 31, 2015. Fifty-two patients fit the inclusion criteria of isolated Pierre Robin sequence or Stickler syndrome, of being younger than 9 months at the time of distraction, and of use of external distractors. Forty-two of these infants did not receive preoperative CT imaging., Exposure: Mandibular distraction osteogenesis for isolated Pierre Robin sequence or Stickler syndrome., Main Outcome Measures: Number of infants who were able to avoid tracheostomy or achieve decannulation, who were able to avoid placement or achieve removal of a gastrostomy tube, and in whom there were no intraoperative complications, no open-bite deformity, no malocclusion, no asymmetry, and no postoperative complications., Results: In comparison with the 10 infants who underwent preoperative CT, all 42 of the infants (100%) who did not receive preoperative CT imaging successfully avoided tracheostomy or achieved decannulation (P = .04) and 40 patients (95%) did not require placement of a gastrostomy tube or were able to undergo gastrostomy tube removal postoperatively (P < .001). There were no significant differences between the CT and non-CT groups in the other 5 outcome measures. Two patients (5%) required postoperative gastrostomy tube placement, 2 patients (5%) had minor intraoperative complications that might have been anticipated with CT, 2 patients (5%) demonstrated malocclusion, and 1 infant (2%) had asymmetry at the end of the distraction phase., Conclusions and Relevance: This series suggests that the absence of preoperative CT does not compromise functional or aesthetic outcomes in mandibular distraction with external distraction devices in infants with isolated Pierre Robin sequence or Stickler syndrome. This finding has implications for cost containment and reduction of radiation exposure to a vulnerable population., Level of Evidence: 4.

We evaluated the safety and effectiveness of adjunctive tacrolimus therapy with conventional immunosuppression in patients with severe connective tissue disease-related interstitial lung disease (CTD-ILD). We included patients from our interstitial lung disease (ILD) registry with CTD-ILD, in whom tacrolimus was added to corticosteroids and an additional immunosuppressive agent. Demographic data, clinical features, lung function, radiographic images, and pathologic findings were reviewed. Effectiveness was assessed by comparing pulmonary function tests (PFTs) closest to tacrolimus initiation to PFTs approximately 6-12 months later. Corticosteroid dose at these time points was also evaluated. We report adverse events attributed to tacrolimus. Seventeen patients with CTD-ILD were included in adverse event analysis; twelve were included in efficacy analysis. Length of tacrolimus therapy ranged from 6 to 110 months (mean 38.8 months ± 31.4). The mean improvement in percent predicted total lung capacity was 7.5% ± 11.7 (p = 0.02). Forced vital capacity mean improvement was 7.4% ± 12.5 (p = 0.06). The average decrease in corticosteroid dose at follow-up was 20.3 mg ± 25.2 (p = 0.02) with complete discontinuation in six patients. No patients experienced a life-threatening adverse event attributed to tacrolimus. Tacrolimus can be effective and is well tolerated as an adjunctive therapy and allows tapering of corticosteroids., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Objectives: The purpose of this study was to evaluate and compare the diagnostic performance of lung ultrasound (US) in respect to high-resolution computed tomography (HRCT) findings in patients with connective tissue disease-associated interstitial lung disease (CTD-ILD)., Methods: We searched the Pubmed, Embase, and Cochrane Library databases, and performed a meta-analysis on the diagnostic accuracy of lung US according to B-lines (comet tail sign) and on the correlation coefficients between lung US scores and HRCT Warrick scores in CTD-ILD patients., Results: Five studies that included a total of 349 patients were available for this meta-analysis. The pooled sensitivity and specificity of lung US were 91.5% (95% confidence interval [CI]: 84.5-96.0) and 81.3% (95% CI: 74.6-86.9), respectively. The positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio were 4.100 (2.133-7.879), 0.176 (0.006-0.363), and 34.73 (10.10-99.66), respectively. The area under the curve was 0.915 and the Q* index was 0.848, indicating a high diagnostic accuracy. When all four studies with systemic sclerosis were considered together, the pooled sensitivity and specificity of lung US were 89.5% (95% CI 80.3-95.3) and 79.6% (69.9-87.2), respectively. A significant correlation was found between lung US B-line scores and HRCT Warrick scores in CTD-ILD (correlation coefficient: 0.783; p-value <1 × 10-9)., Conclusions: Our meta-analysis of published studies demonstrates that lung US has a high diagnostic accuracy, correlates well with HRCT findings, and plays an important role in the diagnosis of CTD-ILD.

Patients with polymyositis (PM) or dermatomyositis (DM) frequently show interstitial pneumonia (IP), which is sometimes rapidly progressive or resistant to treatment, thereby significantly affecting the prognosis. The diagnosis and response evaluation of IP are commonly performed qualitatively based on imaging findings, which may cause disagreement among rheumatologists in the evaluation of early lesions and atypical interstitial changes. To determine whether IP could be diagnosed in a quantitative manner during the early stage of PM/DM using a workstation that allows quantitative image processing. Thoracic computed tomography (CT) images of 20 PM/DM patients were reconstructed into a three-dimensional (3D) image using an image processing workstation. The CT values of the constituent voxels were arranged in a histogram of -1000 to +1000 Hounsfield units (HU). The most frequent lung field density was -900 to -801 HU, and relative size was as follows: IP (+) group 0.45 and IP (-) group 0.53. Between -1000 and -701 HU, relative size was not significantly different between the IP (+) group and IP (-) group. Between -700 and -1 HU, the relative size of the lung field was significantly larger in the IP (+) than in the IP (-) group, demonstrating its IP-diagnosing ability. Particularly, within the range from -700 to -301 HU, the macroscopically-assessed ground glass opacity was consistent with the CT value, which, in turn, was closely correlated with KL-6, the pre-existing marker for IP diagnosis. The results of this study may lead to the establishment of quantitative methods of evaluating IP and possible elucidation of the pathogenesis of IP.

Accurate and reproducible aortic measurements are essential in aortopathy patients. Transthoracic echocardiography (TTE) is commonly used but has several limitations. Cardiac magnetic resonance (CMR) can offset these limitations but has not been directly compared with TTE. We compared the reproducibility of CMR and TTE measurements at multiple aortic levels. Patients with a connective tissue disorder (CTD) or bicommissural aortic valve (BAV) (n = 41; 22 CTD, 19 BAV; mean age 18.8 ± 8.9 years) with TTE and CMR imaging performed within 3 months of each other were randomly selected. Two blinded observers measured the aorta at multiple anatomic levels. Intra- and interobserver variability and agreement between techniques were assessed. Aortic root diameter measurements by TTE and CMR were equally reproducible (% error 4-10 %), but TTE measurements were systematically smaller by 5-7 % (p < 0.0001). Systematic differences were larger in BAV (11-12 %, p < 0.0001) due to root asymmetry. CMR measurements of aortic root cross-sectional area were feasible and highly reproducible (% error 5-8 %). Compared with CMR, ascending aorta measurements by TTE were less reproducible, especially in BAV (% error 21-24 vs. 6-7 %, p = 0.01). Distal aortic measurements by TTE were 14-29 % smaller and had poor reproducibility compared with CMR (% error 24-42 vs. 9-10 %; p < 0.0001). CMR measurement of the largest aortic root dimension is more reliable than TTE, especially when the root is asymmetric. Measurements of the thoracic aorta distal to the root by CMR are more accurate and reproducible than by TTE. These data support a role for CMR in aortopathy patients.

Objectives: Recently, convincing data have been published on the value of salivary gland ultrasonography (SGUS) in differentiating primary SS from non-immune-mediated sicca syndrome. Limited data are available regarding the diagnostic accuracy of SGUS in distinguishing SS from other rheumatic diseases. The purpose of this study was to assess the usefulness of SGUS in distinguishing patients with SS from those with xerostomia and/or xerophthalmia and a diagnosis of stable UCTD., Methods: This cross-sectional study consecutively enrolled 150 patients either diagnosed with SS (as established by the American-European Consensus Group criteria) or affected by UCTD but not SS. Parotid and submandibular glands on both sides were assessed for size, parenchymal echogenicity and inhomogeneity by means of SGUS, which was performed by a radiologist blinded to the diagnosis. Echostructural alterations of the salivary glands were graded from 0 to 3 (cut-off >2)., Results: This study included 109 patients: 55 with SS and 54 with UCTD. Patients with SS showed a higher SGUS score in comparison with those with UCTD [mean 2.2 (s.d. 1.8) vs 0.2 (s.d. 0.5), P < 0.0001]. The SGUS cut-off >2 showed a sensitivity of 65%, a specificity of 96%, a positive predictive value of 95% and a negative predictive value of 73% for SS diagnosis. A significant correlation was also found between the SGUS score and the minor salivary gland biopsy/focus score (r = 0.484, P < 0.0001)., Conclusion: This study confirmed the good sensitivity and the high specificity of SGUS in differentiating SS from other CTDs., (© The Author 2015. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Here, we reported two cases of nonspecific interstitial pneumonia overlap organizing pneumonia (NSIP/OP) with lung-dominant connective tissue disease (LD-ILD). The first case is a patient with hands of chapped skin, right-sided pleuritic chest discomfort, weakness, positive ANA and antibodies to Ro/SS-A (+++) and Ro-52 (++). In the second case, there were Reynaud's disease, and nucleolus-ANA increased (1:800). Chest high resolution CT scan in both cases showed ground-glass opacifications, predominantly in basal and subpleural region and the pathologic manifestation were correlated with NSIP/OP, which were previously discovered in Sjogren syndrome, PM/DM and other rheumatic diseases. The two cases of NSIP/OP with LD-CTD we reported expand disease spectrum of NSIP/OP pathological types in ILD. However, it is necessary to process large-scale studies.

Subcutaneous sarcoidosis occurs infrequently among cases of cutaneous sarcoidosis. To our knowledge, few studies have described the sonographic characteristics of subcutaneous sarcoidosis. Here we report the sonographic characteristics of 3 cases of this condition. Our results revealed 4 features: (1) an irregular hypoechoic appearance, (2) heterogeneous echogenicity, (3) perilesional hyperechoic changes, and (4) abnormal Doppler signals. Sonography is a rapid, simple, and noninvasive procedure that is useful for initial evaluation of granulomatous lesions such as subcutaneous sarcoidosis., (© 2015 by the American Institute of Ultrasound in Medicine.)

Background: Early detection of pulmonary hypertension (PH) in connective tissue disease (CTD) is crucial to ensuring that patients receive timely treatment for this progressive disease. Exercise stress tests have been used to screen patients in an attempt to identify early-stage PH. Recent studies have described abnormal mean pulmonary artery pressure (mPAP)-cardiac output (Q) responses as having the potential to assess the disease state., Objectives: This study hypothesized that pulmonary circulation pressure-flow relationships obtained by 6-min walk (6MW) stress echocardiography would better delineate differential progression of PH and predict development of PH during follow-up., Methods: We prospectively performed 6MW stress echocardiographic studies in 78 CTD patients (age 58 ± 12 years; 9% male) at baseline and follow-up. All patients underwent yearly echocardiographic follow-up studies for up to 5 years., Results: During a median period of 32 months (range: 15 to 62 months), 16 patients reached the clinical endpoint of development of PH and none died during follow-up. PH was confirmed by right heart catheterization in all 16 patients (mPAP ≥25 mm Hg and pulmonary capillary wedge pressure ≤15 mm Hg). In a Cox proportional-hazards survival model, 6MW distance (hazard ratio [HR]: 0.99; p = 0.010), early diastolic tricuspid annulus motion velocity (HR: 0.79; p = 0.025), and ΔmPAP/ΔQ by 6MW stress (HR: 1.10; p = 0.005) were associated with development of PH. In sequential Cox models, a model on the basis of 6MW distance (chi-square, 6.6) was improved by ΔmPAP/ΔQ (chi-square: 14.4; p = 0.019). Using a receiver-operating characteristic curve, we found that the best cutoff value of ΔmPAP/ΔQ for predicting development of pulmonary hypertension was >3.3 mm Hg/l/min., Conclusions: The 6MW stress echocardiography noninvasively provides an incremental prognostic value of PH development in CTD. This is a single-center prospective cohort study. Larger multicenter studies are warranted to confirm this result., (Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

Objective: Elastofibroma dorsi (ED) is a rare pseudotumor of the soft tissues that can also show 18F-fluorodeoxyglucose ((18)F-FDG) uptake on positron emission tomography combined with computed tomography (PET/CT) imaging. The aim of this retrospectively study was to describe the metabolic characteristics of ED incidentally detected by (18)F-FDG PET/CT imaging., Materials and Methods: Between November 2009 and August 2013 at our institution, 10,350 consecutive PET/CT examinations were retrospectively investigated. In 176 of these patients, ED was recorded as an incidental finding. Fifty-five of 176 patients also had follow-up scans after chemoradiotherapy. A total of 231 scans with ED in 176 patients were identified. To determine the metabolic activity of ED, the maximum standardized uptake value (SUVmax) was calculated semiquantitatively. For measurement size of ED, the longest axis of transaxial CT images was used. Seven of the 176 patients underwent surgery due to suspected metastases and/or invasion of primary malignancy and/or symptoms or incidental during surgery., Results: The prevalence of ED in our series was 1.7%. The lesions were located in the subscapular region in all patients, except in one case with a lesion in the infrascapular region. A total of 419 ED lesions in 231 scan of 176 patients were evaluated. Mean ± SD SUVmax and long axis values for these 419 lesions were 2.31 ± 0.61 (range 1.0-4.30) and 56.78 ± 17.01 mm (range 19-112 mm), respectively. Of these 176 patients, 141 (80.1%) had bilateral lesions and 35 (19.9%) had unilateral lesions. There were statistically significant differences in the SUVmax and long axis values between the right and left side in the bilateral lesions (p = 0.001). No significant differences in the SUVmax and long axis values of the lesion were found between pre- and posttreatment in the patients with follow-up scans., Conclusion: Elastofibroma dorsi located in the scapular region is usually bilateral, asymmetric and with mild or moderate metabolic activity on PET/CT imaging. In addition, the metabolic activity and size of ED remained stable after chemoradiotherapy. Awareness of these metabolic characteristics of ED is important for preventing misinterpretation during (18)F-FDG PET/CT studies.

Lateral rectus-superior rectus band degeneration with aging is the major cause of sagging eye syndrome, which usually presents with small-angle esotropia or hypotropia. In contrast, heavy eye syndrome, also called myopic strabismus fixus, is characterized by profound esotropia and hypotropia with the eyeball fixed nasally. We report the case of a 71-year-old man with sagging eye syndrome presenting with strabismus fixus and no myopia., (Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Systemic autoimmune diseases are responsible for about 25% of all deaths due to interstitial lung disease; therefore, an early identification of patients with pulmonary manifestation changes the management. Detection, differential diagnostic classification and staging of the pneumological pattern of findings are largely based on high-resolution computed tomography (HR-CT). The main differential diagnostic challenges are interstitial manifestations which present with radiological-histopathological phenotypes of interstitial pneumonia. The most common form of interstitial pulmonary reaction form of connective tissue diseases is the nonspecific interstitial pneumonia (NSIP) pattern. In rheumatoid arthritis, a usual interstitial pneumonia (UIP) pattern is dominant. Uncharacteristic reactions of airways and pleura can be the leading symptom or present as accompanying findings. A serious complication is pulmonary hypertension. Drug-induced lung lesions can present with similar HR-CT morphology as connective tissue diseases and can only be differentiated in the temporal and clinical context.

In rodent models of inflammatory arthritis, bone erosion has been non-invasively assessed by micro-computed tomography (micro-CT). However, non-invasive assessments of paw swelling (oedema) are still based on clinical grading by visual evaluation, or measurements by callipers, not always reliable for the tiny mouse paws. The aim of this work was to demonstrate a novel straightforward 3D micro-CT analysis protocol capable of quantifying not only joint bone erosion, but also soft tissue swelling, from the same scans, in a rodent inflammatory arthritis model. Balb/c mice were divided into two groups: collagen antibody-induced arthritis (CAIA) and CAIA treated with prednisolone, the latter reflecting an established treatment in human rheumatoid arthritis. Clinical paw scores were recorded. On day 10, front paws were assessed by micro-CT and histology. Micro-CT measurements included paw volume (bone and soft tissue together) and bone volume at the radiocarpal joint, and bone volume from the radiocarpal to the metacarpophalangeal joint. Micro-CT analysis revealed significantly lower paw volume (-36%, P < 0.01) and higher bone volume (+17%, P < 0.05) in prednisolone-treated CAIA mice compared with untreated CAIA mice. Paw volume and bone volume assessed by micro-CT correlated significantly with clinical and histological scores (|r| > 0.5, P < 0.01). Untreated CAIA mice showed significantly higher clinical scores, higher inflammation levels histologically, cartilage and bone degradation, and pannus formation, compared with treated mice (P < 0.01). The presented novel micro-CT analysis protocol enables 3D-quantification of paw swelling at the micrometre level, along with the typically assessed bone erosion, using the same images/scans, without altering the scanning procedure or using contrast agents., (© The Authors. Scandinavian Journal of Immunology published by John Wiley & Sons Ltd on behalf of Scandanavian Society of Immunology (SSI).)

Connective tissue diseases (CTDs) comprise several immunologic systemic disorders, each of which associated with a particular set of clinical manifestations and autoimmune profile. CTDs may cause numerous thoracic abnormalities, which vary in frequency and pattern according to the underlying disorder. The CTDs that most commonly involve the respiratory system are progressive systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis, Sjögren syndrome, polymyositis, dermatomyositis, and mixed connective tissue disease. Pulmonary abnormalities in this group of patients may result from CTD-related lung disease or treatment complications, namely drug toxicity and opportunistic infections. The most important thoracic manifestations of CTDs are interstitial lung disease and pulmonary arterial hypertension, with nonspecific interstitial pneumonia being the most common pattern of interstitial lung disease. High-resolution computed tomography is a valuable tool in the initial evaluation and follow-up of patients with CTDs. As such, general knowledge of the most common high-resolution computed tomographic features of CTD-related lung disease allows the radiologist to contribute to better patient management., (Copyright © 2014 Mosby, Inc. All rights reserved.)

Connective tissue diseases (CTDs) are a heterogeneous group of idiopathic inflammatory diseases involving various organs. A thoracic involvement is frequent, and chest-CT represents the imaging technique of reference in its assessment. Pulmonary abnormalities related to CTDs are various; although several disease-specific aspects have been described, the two most clinically relevant complications are represented by interstitial lung disease and pulmonary arterial hypertension. The early identification of a thoracic involvement, with the adoption of specific therapies, can significantly change patient's prognosis. The aim of this article is to review the most common typical and atypical CT features of thoracic involvement occurring in CT, especially focusing on interstitial lung disease.

Background: Collagen vascular disease-associated interstitial lung disease (CVD-ILD) must be differentiated from idiopathic pulmonary fibrosis (IPF) since prognosis and treatment strategies differ between these two conditions. However, differentiating between CVD-ILD and IPF is often difficult., Purpose: To examine the utility of expiratory high-resolution computed tomography (HRCT) for differentiating between CVD-ILD and IPF., Material and Methods: Seventy patients were examined with expiratory and inspiratory HRCT with CVD-ILD (n = 36) or IPF (n = 34). Associated diagnoses in patients with CVD-ILD were rheumatoid arthritis (n = 22), Sjögren syndrome (n = 3), scleroderma (n = 2), polymyositis/dermatomyositis (n = 1), and unspecified connective tissue disease (n = 8). Parenchymal abnormalities on inspiratory HRCT and visual extent of air trapping on expiratory HRCT were evaluated, statistical differences in HRCT findings between the two conditions were determined, and air trapping CT scores were correlated with the results of pulmonary function testing., Results: Air trapping was found in 27 (75%) of 36 cases of CVD-ILD and four (12%) of 34 cases of IPF. Seventeen of the 27 cases for which air trapping was exhibited with CVD-ILD were diagnosed with rheumatoid arthritis. A significant difference in frequency of air trapping was seen between CVD-ILD and IPF (P < 0.0001). Frequency of centrilobular nodules was significantly higher in CVD-ILD than in IPF (P = 0.021). In contrast, frequencies of interlobular interstitial thickening and traction bronchiectasis were significantly higher in IPF than in CVD-ILD (P = 0.005, P = 0.007, respectively). Correlations were seen between visual extent of air trapping and pulmonary function test results such as air trapping index (P = 0.004, r = 0.34), closing volume/vital capacity (P = 0.0002, r = -0.47), and closing capacity/total lung capacity (P < 0.0001, r = -0.51)., Conclusion: The presence of air trapping on expiratory HRCT suggests CVD-ILD rather than IPF., (© The Foundation Acta Radiologica 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.)

Musculoskeletal ultrasonography is now widely used by almost all rheumatologists thanks to an improvement in the quality of ultrasound unit and probe and to the systematic teaching of this imaging technique to the rheumatology fellows. Applications have broadened from the study of degenerative and mechanical diseases to inflammatory rheumatic diseases. Ultrasound is more sensitive than clinical examination. Power Doppler allows the direct visualisation of inflammation within the tissues. Finally, it is a prognostic tool helping the physician in the management of the disease. This review will focus on the value and applications of ultrasonography in the 2 most frequent rheumatic diseases: rheumatoid arthritis and spondyloarthritis. We will also give some recent data on the usefulness of this imaging technique in the study of musculoskeletal manifestations associated with connective tissue disease., (Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.)

Background: Studies on the radiological findings of calcinosis cutis in patients with autoimmune connective tissue disease (ACTD) are limited., Objectives: To describe imaging findings and radiological patterns of calcinosis cutis occurring with ACTD., Methods: We retrospectively reviewed the cases of 37 patients with imaging studies assessing for calcinosis cutis associated with ACTD at our institution between 1996 and 2009. A formal blinded review of available images (i.e. radiographs, computed tomography scans) for all 37 patients was performed by radiologists., Results: Of 37 patients, 30 (81%) were female. The mean age at diagnosis of calcinosis cutis was 43·4 years. Patients had the following ACTDs: dermatomyositis (n = 17) with classic (n = 9), juvenile (n = 7) and amyopathic (n = 1) subtypes; systemic sclerosis with limited cutaneous scleroderma (n = 8); undifferentiated connective tissue disease (n = 4); mixed connective tissue disease (n = 3); systemic lupus erythematosus (n = 2); lupus panniculitis (n = 1); overlap connective tissue disease (n = 1); and polymyositis (n = 1). Plain radiographs detected calcinosis in all 37 patients; a nodular pattern of calcification was most commonly observed (31/37; 84%). Two or more morphological patterns of calcification were present in 19 patients (51%). In general, individual patterns were not specific to a particular ACTD subtype., Conclusions: Radiography detected calcinosis in all patients and is recommended for initial imaging of calcinosis. Multiple morphological patterns of calcification were observed across ACTD subtypes. Further studies should correlate radiological studies with treatment of calcinosis and underlying ACTD., (© 2013 British Association of Dermatologists.)

Objective: To review imaging features of fibrous hamartoma of infancy (FHI), focusing on ultrasonography (US) findings., Materials and Methods: We retrospectively reviewed pediatric patients who were diagnosed with pathologically confirmed FHI in two children's hospitals from 2004 to 2013. Imaging features of US, Doppler US, and magnetic resonance imaging (MRI) were evaluated., Results: Thirteen pediatric patients (M:F = 7:6; age 5-22 months, mean 11.3 months) were included. Mean lesion size was 3.2 cm (range, 0.7-8.0 cm). The tumors were located in the back (n = 4), scrotum (n = 2), scalp, shoulder, axilla, forearm, intergluteal cleft, inguinal area, and thigh. US was performed in 11 patients. With the exception of two scrotal masses, all masses were located in the dermal and subcutaneous layer. All masses demonstrated heterogeneous hyperechogenicity with a "serpentine pattern" of intervening hypoechoic portions in the hyperechoic mass. The margins were ill-defined (n = 9) or lobulated (n = 2). Doppler US was performed in nine patients and showed no (n = 6) or minimal (n = 3) vascularity. MRI was performed in five patients and the masses showed heterogeneous signal intensity with the presence of fat on T1- and T2-weighted images., Conclusions: FHI is a tumor that is typically located in the dermal and subcutaneous layer in young children less than 2 years old and presents as a heterogeneously hyperechoic mass with a "serpentine pattern" and ill-defined or lobulated margin on US and no remarkable vascularity on Doppler US.

Purpose: To determine high resolution computed tomography (HRCT) patterns and pulmonary function indices which are associated with increased mortality in patients with connective tissue disease related fibrotic lung disease (CTD-FLD)., Methods: HRCTs from 168 patients with CTD-FLD were scored by 2 observers for a variety of HRCT patterns and traction bronchiectasis. A radiological diagnosis of usual interstitial pneumonia (UIP), fibrotic non-specific interstitial pneumonia (NSIP) or indeterminate was also assigned. Using Cox regression analysis, associations with mortality were identified. Honeycombing and traction bronchiectasis scores were converted to binary absence/presence scores and also tested. A subgroup analysis of patients with biopsy material (n=51) was performed by classifying patients according to radiological and histopathological diagnoses, as concordant UIP, discordant UIP and fibrotic NSIP. The prognostic separation of this classification was also evaluated., Results: Severity of traction bronchiectasis (HR 1.10, p=0.001, 95% CIs 1.04 to 1.17), increasing extent of honeycombing (HR 1.08, p=0.021, 95% CI 1.03 to 1.13) and reduction in DLco (HR 0.97, p=0.013, 95% CI 0.95 to 0.99) were independently associated with increased mortality. Interobserver agreement and prognostic strength were higher for binary traction bronchiectasis scores (weighted κ (κw)=0.69, HR 4.00, p=0.001, 95%CI 1.19 to 13.38), than binary honeycombing scores (κw=0.50, HR 2.87, p=0.022, 95% CI 1.53 to 5.43). The radiological-histopathological classification was strongly associated with increased mortality (HR 2.74, p<0.001, 95% CI 1.57 to 4.77) and patients with discordant UIP had a better prognosis than concordant UIP but worse prognosis than fibrotic NSIP., Conclusions: Severity of traction bronchiectasis, extent of honeycombing and DLco are strongly associated with mortality in CTD-FLD. Interobserver agreement for traction bronchiectasis is higher than for honeycombing. In CTD-FLD, radiological diagnosis has survival implications in biopsy proven UIP.

Rheumatologists have been using ultrasound (US) for the evaluation of patients affected by rheumatic disease for a long time. Actually this approach is becoming more and more diffuse and US is used for multiple purposes: diagnosis, disease activity assessment, prognosis, and therapy monitoring. The real 'new' step for the rheumatologist has been moving from the 'usual' musculoskeletal US to other fields of US, such as the assessment of vascular involvement (both macro and micro), skin, lung and even nails. In this paper we review the published literature related to the use of musculoskeletal, skin and lung US in patients affected by connective tissue diseases.

Objective: To evaluate the ability of calcaneus quantitative ultrasound (QUS) to diagnose osteoporosis in connective tissue disease (CTD) patients., Methods: In the study, 126 female patients with established CTD underwent dual-energy X-ray absorptiometry (DXA) of the lumber and right hip and QUS of the right heel at the same time. Sensitivity, specificity, as well as positive and negative predictive values were calculated to determine the correlation between cases of osteoporosis detected by the QUS heel scan and by DXA., Results: The mean age of the 126 patients was (43.4 ± 19.8) years (ranging from 30.0 to 80.0 years). Based on their DXA data, 36 (28.6%) patients had normal bone mineral density (BMD, T score ≥ -1.0), 90 (71.4%) patients had abnormal BMD. In abnormal BMD patients, 45 (35.7%) had osteopenia (-2.5 < T score<-1.0), and 42 (33.3%) were osteoporotic (T score ≤ -2.5), while 3 (2.4%) patients had fragile fracture. Broadband ultrasound attenuation (BUA), speed of sound (SOS) and stiffness index (SI) were all significantly different between osteopenia and the normal group when scanning with QUS. QUS T score was positively correlated with DXA T score, both at lumber and right hip respectively (r=0.491, 0.648, P<0.01). After correction by age and BMI, QUS T score remained positively correlated with DXA T score by partial correlation analysis (Pearson partial vertebral r=0.430, P=0.006; right hip r=0.593, P<0.001). The area under the ROC curve for diagnosis of lumber and hip osteoporosis were 0.836 (95%CI: 0.695, 0.977) and 0.647 (95%CI: 0.579, 0.957) separately. The sensitivity and specificity for identifying osteoporosis in lumber were 70% and 83.3% respectively when the T score threshold of QUS was defined as -1.5; however, the sensitivity and the specificity for identifying osteoporosis at right hip were 72.7% and 88.9% when T score threshold of QUS was defined as -1.85. The best SI threshold was defined as 76 for identifying osteoporosis, with sensitivity being 0.800 and specificity 0.741., Conclusion: Our study confirmed that QUS measurements performed at calcaneus with quantitative ultrasound bone analysis were capable of screening osteoporosis defined by axial BMD using DXA in female CTD patients.

The lungs are frequently involved in Connective Tissue Diseases (CTDs). Interstitial lung disease (ILD) is one of the most common pleuropulmonary manifestations that affects prognosis significantly. In practice, rheumatologists and other physicians tend to underestimate the impact of CTD-ILDs and diagnose respiratory impairment when it has reached an irreversible fibrotic stage. Early investigation, through clinical evidence, imaging and - in certain cases - lung biopsy, is therefore warranted in order to detect a possible ILD at a reversible initial inflammatory stage. In this review, we focus on lung injury during CTDs, with particular attention to ILDs, and examine their prevalence, clinical manifestations and histological patterns, as well as therapeutic approaches and known complications till date. Although several therapeutic agents have been approved, the best treatment is still not certain and additional trials are required, which demand more knowledge of pulmonary involvement in CTDs. Our central aim is therefore to document the impact that lung damage has on CTDs. We will mainly focus on Rheumatoid Arthritis (RA), which - unlike other rheumatic disorders - resembles Idiopathic Pulmonary Fibrosis (IPF) in numerous aspects., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Objective: To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis and patellar instability in patients with Stickler syndrome type I. Radiographic and tomographic analyses were organized., Methods: From a series of Stickler syndrome patients followed from early life to late childhood. Ten patients (6 boys and four girls of different ethnic origins were consistent with the diagnosis of Stickler syndrome type I ). Phenotypic characterization was the baseline tool applied for all patients and genotypic correlation was performed on four families, Results: A constellation of axial abnormalities namely; anterolateral ossification of the anterior longitudinal spinal ligament with subsequent fusion of two cervical vertebrae, early onset Forestier disease (progressive spinal hyperostosis with subsequent vertebral fusion on top of bridging osteophytes and "Bamboo-like spine" resembling ankylosing spondylitis) and severe premature spine degeneration were evident. Appendicular abnormalities in connection with generalized epiphyseal dysplasia were the underlying aetiology in patients with Intoeing gait and femoral anteversion, early onset severe osteoarthritis of the weight bearing joint. Remarkable trochleo-patellar dysplasia secondary to severe osteoarthritis causing effectively the development of patellar instability was additional pathology. Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type I CONCLUSION: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular skeletal abnormalities. We were able to modify the criteria of the clinical phenotype as designated by Rose et al in accordance with the novel axial and appendicular criteria as emerged from within our current study.

Objectives: Our purpose was to identify the incidence and significance of markers of systemic connective tissue abnormalities (CTA) in patients with saccular intracranial aneurysms (SIA)., Materials and Methods: This prospective case-control study included 199 consecutive patients with SIA (103 women and 96 men, mean age - 43.2 years) and 194 control patients - blood donors (108 - men, 86 - women, mean age - 38.4 years). Aneurysms were verified by conventional cerebral angiography. All patients were examined by the first author using a specially designed questionnaire and a standardized physical examination with special emphasis on systemic CTA., Results: Twelve markers of systemic CTA were significantly higher in patients with SIA than in controls: visible vessels on face and chest (59.8%), scoliosis (44.7%), varicose veins in legs (39.7%), flatfoot (34.6%), hyperextensibility of the skin (33.6%), spontaneous epistaxis (25.6%), easy bruising (20.6%), abdominal hernia (13.6%), periodontal disease (10.5%), chest deformations (7.5%), abdominal striae (3.5%), joint hypermobility (2.5%). A blinded validation study in a subset of 43 patients showed similar results. Among patients with SIA, 125 of 199 patients (62.8%) had at least three markers of systemic CTA compared with 23 (11.8%) of the controls (P < 0.0001, OR = 12.5, 95% CI 7.45-21.1). The mean number of markers of systemic CTA in patients with SIA was 3.07 and 1.17 in controls., Conclusion: Patients with SIA have multiple markers of systemic connective tissue abnormalities. Systemic weakness of connective tissue represents a risk factor for development of SIA. Identification of these markers may help in detection of high-risk patients., (© 2013 John Wiley & Sons A/S.)

High-resolution sonography using a stand-off pad or a gel mound is a standard technique for the evaluation of soft-tissue structures of the hands and feet in children. However, the complex curved surfaces of the hands and feet often yield suboptimal contact between the transducer and the skin. Additionally, the small field of view, relative compressibility of the soft-tissue structures by the transducer, patient motion and discomfort from contact of the transducer with the pathology often limit conventional US evaluation. A water-bath technique overcomes these limitations. We present our experience of water-bath technique of superficial sonography in 23 children. Water-bath technique was performed with good patient cooperation and was superior to the standard technique for depiction of shallow skin ulcers, subcutaneous masses, vascular malformations, osteomyelitis and foreign bodies.

Implications of an protein-energy malnutrition are diagnosed for patients with a dysplasia of a connecting tissue more often than in population (in 69.9% of cases). One of mechanisms is depression of a volume abdominal blood flow against the structural changes of vascular system associated with a dysplasia of a connecting tissue.

Background: Calciphylaxis is a rare, life-threatening syndrome marked by vascular calcification and cutaneous necrosis. The role of radiographic imaging in assisting in diagnosis has not been established., Objective: To investigate the potential role of plain radiographic imaging in the diagnosis of calciphylaxis., Methods: We searched for cases of patients at our tertiary referral center with a diagnosis of calciphylaxis between Jan 1, 1996, and Dec 31, 2010. Two control patients receiving dialysis but without calciphylaxis were age- and sex-matched to each study patient. Plain radiographs were obtained from the date closest to diagnosis in patients with calciphylaxis and from matched controls at approximately the same dates. Two radiologists, masked as to cases and controls, read each image together. Size of calcified vessels, pattern and extent of calcifications, presence of net-like or other calcifications, and bone density/mineralization were recorded and analyzed., Results: Twenty-nine patients with calciphylaxis (mean age, 57 years; 21 [72%] women) were identified. Mean age at diagnosis was 57 years (range, 36-75 years). Compared with those of controls, plain radiographs of patients with calciphylaxis had more vascular calcifications, more small-vessel calcifications, and a netlike pattern of calcifications. A netlike pattern of calcifications had considerable strength of association with calciphylaxis (odds ratio, 9.4) and a specificity of nearly 90%. These findings were preserved even if only one image was used per patient., Limitations: This was a retrospective study., Conclusion: A netlike pattern of calcifications on plain radiographs was more common in patients with calciphylaxis and may aid in diagnosis., (Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.)

Objective: To evaluate the effect of connective tissue disease (CTD) diagnosed during the first trimester on uterine arteries (UtA) Doppler velocities and on pregnancy outcomes., Method: Pregnant women were screened for CTDs during the first trimester, using a questionnaire, testing for autoantibodies, rheumatologic examination and UtA Doppler evaluations., Results: Out of 3932 women screened, 491 (12.5%) were screened positive at the questionnaire; of them, 165(33.6%) tested positive for autoantibodies, including 66 eventually diagnosed with undifferentiated connective tissue disease (UCTD), 28 with a definite CTD and 71 with insufficient criteria for a diagnosis. Controls were 326 women screened negative for autoantibodies. In logistic analysis, women diagnosed with either UCTD (OR = 7.9, 95% CI = 2.3-27.3) or overt CTD (OR = 24.9, 95% CI = 6.7-92.4), had increased rates of first trimester bilateral UtA notches compared with controls. The rates of bilateral UtA notches persisting in the second (15/94 vs 0/326, p < 0.001) and third trimesters (7/94 vs 0/326, p < .001) were higher among women with CTDs than in controls. The risk of complications (preeclampsia, fetal growth restriction, prematurity, diabetes, fetal loss) was higher (OR = 7.8, 95% CI = 3.6-17.0) among women with CTDs than in controls., Conclusion: Women with undiagnosed CTDs have higher rates of bilateral UtA Doppler notches throughout pregnancy and increased rates of adverse pregnancy outcomes than controls., (© 2012 John Wiley & Sons, Ltd.)

Subcutaneous dirofilariasis is a parasitic infestation found in endemic areas in Mediterranean countries such as Italy. It is occasionally reported in India, mostly from the state of Kerala. Presentation in an infant is extremely rare. We report a case of subcutaneous dirofilariasis in a child that was diagnosed by ultrasonography and confirmed by surgery.