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((((((thrombophlebitis) OR takayasu) OR temporal arteritis) OR sarcoidosis) OR myositis) OR scleroderma) OR sjogren's disease; +24 new citations

Actualités En Médecine Interne - il y a 11 min 1 sec

24 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

((((((thrombophlebitis) OR takayasu) OR temporal arteritis) OR sarcoidosis) OR myositis) OR scleroderma) OR sjogren's disease

These pubmed results were generated on 2019/02/23

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

((((((thrombophlebitis) OR takayasu) OR temporal arteritis) OR sarcoidosis) OR myositis) OR scleroderma) OR sjogren's disease; +24 new citations

Actualités En Médecine Interne - il y a 3 heures 21 min

24 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

((((((thrombophlebitis) OR takayasu) OR temporal arteritis) OR sarcoidosis) OR myositis) OR scleroderma) OR sjogren's disease

These pubmed results were generated on 2019/02/23

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Assessment and outcome of AV conduction in normal and anti-Ro/SSA antibody positive pregnancies evaluated by echocardiography and magnetocardiography.

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
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Assessment and outcome of AV conduction in normal and anti-Ro/SSA antibody positive pregnancies evaluated by echocardiography and magnetocardiography.

Ultrasound Obstet Gynecol. 2019 Feb 19;:

Authors: Cuneo BF, Bitant S, Strasburger JF, Kaizer AM, Wakai RT

Abstract
OBJECTIVES: 1. Evaluate the association between echocardiographic AV and magnetocardiographic PR intervals at different gestational ages. 2. Determine if PR interval could be predicted by AV interval. 3. Assess the neonatal outcomes of fetuses with prolonged AV and PR intervals with the goal of developing criteria for fetal 1° AVB.
METHODS: Our study is a retrospective review of controls and fetuses from anti-Ro/SSA positive pregnancies that underwent MCG and echocardiography at the same recording session. Cardiac cycle length (CL), GA, AV (by mitral inflow/aortic outflow Doppler) and PR (by fMCG) intervals were measured. We evaluated for significant differences between AV and PR intervals using generalized estimating equations to account for repeated measurements and evaluated if PR interval could be reliably predicted by AV interval. After birth, infants with a fetal AV or PR interval ≥ 3 z-scores underwent 12-lead ECG.
RESULTS: Thirty-nine controls and 31 cases underwent 46 and 36 simultaneous fMCG and echo sessions, respectively; 109 controls and 9 cases underwent fMCG only. Cardiac CL, AV and PR intervals increased with GA (P<0.05). Overall, AV and PR intervals were significantly different from each other (P<0.001), but with insignificant differences between cases and controls (P=0.222). The PR interval could not be predicted precisely from the AV interval and GA alone. Three of four cases with AV and PR intervals > +3 Z-scores had postnatal 1°AV block despite treatment. A fourth fetus (#7) with predominately 2° AVB and rare periods of 1° AVB progressed to 3° AVB despite treatment with dexamethasone.
CONCLUSIONS: The diagnostic threshold for 1° AV block defined by z-scores is GA-specific. Based on observed data, a threshold of 3 z-score (AV interval: 158-173 ms) may be appropriate.. Echo AV intervals were not predictive of fMCG PR intervals." This article is protected by copyright. All rights reserved.

PMID: 30784137 [PubMed - as supplied by publisher]

Amyloid tumor of the breast.

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
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Amyloid tumor of the breast.

Surg Case Rep. 2019 Feb 19;5(1):31

Authors: Mori M, Kotani H, Sawaki M, Hattori M, Yoshimura A, Gondo N, Adachi Y, Kataoka A, Sugino K, Horisawa N, Terada M, Ozaki Y, Iwata H

Abstract
BACKGROUND: Amyloid tumor of the breast is a rare disease, which was first reported in 1973. To date, only six cases have been reported in Japan.
CASE PRESENTATION: A 45-year-old woman who had a medical history of Sjogren's syndrome presented with a lump of 3 cm in diameter on the outer side of the right breast. Mammography showed no abnormality. Ultrasonography showed a well-defined and rough hypoechoic mass of 32 mm in diameter at the site of the lump. With suspicion of breast cancer, an ultrasound-guided vacuum-assisted breast biopsy was performed. For pathological diagnosis, hematoxylin and eosin staining showed deposits of nonstructural substances in the interstitium. The specimen stained red with Congo red staining and showed green birefringence under a polarizing microscope. Thus, the mass was diagnosed as an amyloid tumor. Since the patient had Sjogren's syndrome, it was considered a breast finding of autoimmune disease. We considered further therapy to be unnecessary, and annual follow-up was recommended.
CONCLUSIONS: We diagnosed the mass as an amyloid tumor by an ultrasound-guided vacuum-assisted breast biopsy without resection. The patient had no systemic symptoms suspected systemic amyloidosis, and we diagnosed localized amyloidosis. An amyloid tumor of the breast may show findings suggestive of breast cancer. Pathological diagnosis before surgery is important to avoid excessive invasion. If deposits of nonstructural substances are observed by hematoxylin and eosin staining, Congo red staining should be added.

PMID: 30783867 [PubMed]

[Schirmer test for determining the moisture status of the nasal mucosa].

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
Related Articles

[Schirmer test for determining the moisture status of the nasal mucosa].

HNO. 2019 Feb 19;:

Authors: Stupp F, Weigel A, Hoffmann TK, Sommer F, Grossi AS, Lindemann J

Abstract
BACKGROUND: There is no established method to objectively measure the moisture status of nasal mucosa. In a pilot study it was shown that a nasal Schirmer test is a possible method. The aim of the current study was to check whether the nasal Schirmer test is suitable to define moisture status in cases with an expected pathological secretion.
MATERIALS AND METHODS: Initially, 154 subjects participated, of whom n = 112 were included (healthy n = 65, deviated septum n = 47, ♂ 60, ♀ 52, median age 33 years). After evaluation of various test strips, the most suitable one was placed on both sides of the mucosa of the anterior septum. Secretion running distance (SRD) was measured in mm after 10 min. In addition, rhinomanometry (AAR) and acoustic rhinometry (AR) were performed. Healthy volunteers and subjects with septum deviation were compared, and subjects were also compared in terms of smoking behavior and age (<60 and ≥60 years).
RESULTS: The total median SRD was 12 mm. SRDs between 9 and 14 mm were considered physiological. In non-smokers, SRD was significantly higher in all groups compared to smokers (p > 0.05). Nasal side, age, and deviated septum had no significant influence on SRD (p < 0.05). There were no correlations between SRD and AAR or AR.
CONCLUSION: Our results confirm that a statement about moisture of the nasal mucosa is possible based on a nasal Schirmer test. Standard values of SRD are relevantly influenced by the respective test strip. Smoking is associated with a drier mucosa. Further investigations on the nasal Schirmer test in patients with expected atrophy of the nose, e. g., Sjogren's or empty nose syndrome, should be performed.

PMID: 30783730 [PubMed - as supplied by publisher]

Trauma on a Recently Augmented Breast as a Trigger for Mondor's Disease.

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
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Trauma on a Recently Augmented Breast as a Trigger for Mondor's Disease.

Aesthetic Plast Surg. 2019 Feb 19;:

Authors: Yordanov YP

Abstract
Mondor's disease is the eponym used to describe a self-limited phlebitis or thrombophlebitis of the superficial veins localized mainly on the thoracoabdominal area of the human body. Its clinical manifestation includes painful superficial cords causing skin retraction. This medical condition could be idiopathic, iatrogenic or a manifestation of underlying pathology such as breast cancer and seems to be more common than has been previously thought. The vast majority of the clinical studies and case reports to date focus on Mondor's disease as a disorder which is more or less directly related to a previous surgical intervention. In this case report, the author discusses the possible role of breast surgery as a predisposing factor only and the trauma on the operated breast as a trigger for onset and earlier manifestation of Mondor's disease. A special emphasis is put on the importance of trauma prevention in breast augmentation surgery, especially when maneuvers like postoperative massages are considered.Level of Evidence V This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

PMID: 30783723 [PubMed - as supplied by publisher]

A prospective randomized study to evaluate safety and efficacy of heparin topical solution (1000 IU/ml) compared to heparin topical gel (200 IU/g) in prevention of infusion-associated phlebitis.

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
Related Articles

A prospective randomized study to evaluate safety and efficacy of heparin topical solution (1000 IU/ml) compared to heparin topical gel (200 IU/g) in prevention of infusion-associated phlebitis.

Indian J Pharmacol. 2018 Nov-Dec;50(6):344-349

Authors: Saini V, Samra T, Ahuja N, Sethi S

Abstract
OBJECTIVES: Thrombosis and thrombophlebitis of the superficial venous system are common in hospitalized patients. Efficacy and safety of topical quick penetrating solution (QPS) of heparin were compared to heparin sodium topical gel for the prevention of infusion-associated phlebitis.
MATERIALS AND METHODS: Patients aged 18-65 years undergoing intravenous cannulation for at least 72 h were enrolled and randomized to receive 6-8 drops of topical solution of heparin (Group sodium topical solution [QPS]) or1 g of topical gel (Group GEL) over the cannulated vein every 8 hourly for a total of 10 doses. Enrolled patients were monitored every 8 ± 1 h for phlebitis using visual infusion phlebitis scale. The primary aim was to compare the proportion of patients with Grade 0, I, and II phlebitis at the end of 72 h of treatment period.
RESULTS: Number of patients assessed for eligibility was 110; 26 excluded and 84 randomized. Analysis was done for 41 administered heparin QPS and 33 administered heparin gel as the rest were lost to follow-up. No phlebitis was reported in 32% of patients in QPS group and 9% in GEL group (P =0.0019). Proportion of patients with Grade I and Grade II phlebitis was 22.9% and 13.5% with QPS and 35.13% and 22.97% with gel, respectively, and the difference was statistically significant. Mean time to develop Grade I (Group QPS = 59.7 h; Group GEL = 58.46 h; P = 0.949) and Grade II (Group QPS = 62.4 h; Group GEL = 61.17 h; P = 0.732) phlebitis was comparable no adverse effects were reported in either group.
CONCLUSION: Heparin QPS was more effective in he prevention of infusion-associated phlebitis with similar safety profile as heparin gel.

PMID: 30783328 [PubMed - in process]

Thermophoretic diagnosis of autoimmune diseases based on Escherichia coli with autodisplayed autoantigens.

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
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Thermophoretic diagnosis of autoimmune diseases based on Escherichia coli with autodisplayed autoantigens.

Anal Chim Acta. 2019 May 09;1055:106-114

Authors: Lee GY, Bong JH, Kim JY, Yoo G, Park M, Kang MJ, Jose J, Pyun JC

Abstract
The autoimmune diseases systemic lupus erythematosus (SLE) and Sjogren's syndrome (SS) are diagnosed by detection of autoantibodies against Ro and La protein autoantigens, respectively. In this work, the diagnosis of autoimmune diseases SLE and SS was demonstrated using thermophoresis of Escherichia coli with the autodisplayed autoantigens. Ro and La protein autoantigens were autodisplayed by constitutive expression together with a fluorescent protein called tdTomato in the cytosol. The binding affinity of the autodisplayed autoantigens was tested against positive and control sera by using FACS as a reference method. The factors influencing interactions between E. coli with autodisplayed autoantigens and autoantibodies in sera during thermophoresis were analyzed by measurement of cell surface charge and size before and after interaction. Finally, the thermophoretic diagnosis of autoimmune diseases SLE and SS was demonstrated using sera from patients afflicted with the respective diseases by estimating sensitivity and selectivity from ROC plots.

PMID: 30782361 [PubMed - in process]

Corticosteroid dose increase is a risk factor for nonalcoholic fatty liver disease and contralateral osteonecrosis of the femoral head: a case report.

Actualités En Médecine Interne - jeu, 21/02/2019 - 14:38
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Corticosteroid dose increase is a risk factor for nonalcoholic fatty liver disease and contralateral osteonecrosis of the femoral head: a case report.

BMC Musculoskelet Disord. 2019 Feb 19;20(1):88

Authors: Shimizu H, Shimizu T, Takahashi D, Asano T, Arai R, Takakuwa Y, Iwasaki N

Abstract
BACKGROUND: The incidence of bilateral corticosteroid-induced osteonecrosis of the femoral head (ONFH) is high. Although the precise mechanism of corticosteroid-induced ONFH development is unclear, hepatic enzyme abnormalities such as low activity of hepatic cytochrome P450 3A could be one cause. Herein, we report the case of a patient who developed ONFH in the contralateral hip after the dose of corticosteroids for idiopathic thrombocytopenic purpura was increased. Liver biopsy was done to rule out autoimmune hepatitis.
CASE PRESENTATION: A 32-year-old woman had been treated with continuous corticosteroids of up to 10 mg/day for Sjögren's syndrome for 25 years and corticosteroid-induced ONFH in the left side. At age 33, idiopathic thrombocytopenia developed, which was treated by increasing the corticosteroid dose (40 mg/day). Two months later, liver enzyme level began to increase slightly and continued to increase. A year after corticosteroid dose increase, contralateral ONFH developed, and a liver biopsy demonstrated nonalcoholic fatty liver disease (NAFLD).
CONCLUSIONS: The current case indicates that corticosteroid dose increase is a potential risk factor for NAFLD and contralateral ONFH. Therefore, it would be useful and important for to screen and monitor patients with hepatic enzyme abnormality for ONFH occurrence.

PMID: 30782153 [PubMed - in process]

The role of microRNA-16 in the pathogenesis of autoimmune diseases: A comprehensive review.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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The role of microRNA-16 in the pathogenesis of autoimmune diseases: A comprehensive review.

Biomed Pharmacother. 2019 Feb 16;112:108583

Authors: Yan L, Liang M, Hou X, Zhang Y, Zhang H, Guo Z, Jinyu J, Feng Z, Mei Z

Abstract
MicroRNAs (miRNAs) are a class of small noncoding RNAs that are only 21-25 nt long. Many studies have shown that miRNA dysfunction is closely related to the occurrence and development of diseases. By combining with the 3' noncoding region of target gene mRNA, miRNAs can mediate the degradation or translation inhibition of mRNA and exert a powerful regulation effect on gene expression at the posttranscriptional level, mainly inhibiting the translation or degradation of targets. Therefore, they are a class of molecules that play a negative regulatory role. Current studies have found that miR-16 is closely related to the occurrence of several autoimmune diseases. Studies have reported that miR-16 participates in the occurrence and development of rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, inflammatory bowel disease, autoimmune thyroid disease, juvenile idiopathic arthritis, primary Sjogren's syndrome and other autoimmune diseases by regulating the expression of cytokines such as TNF-α, IL-8, IL-6, and IL-4; regulating activin A receptor (ACVR), growth differentiation factor-5 (GDF-5) and adenosine A2a receptor (A2AR) expression; affecting the proliferation, differentiation of Th17 cells and Treg cells; and regulating the balance between the cells. In this review, emphasis will be placed on the recent progress in characterizing the roles of miR-16 in these autoimmune diseases.

PMID: 30780103 [PubMed - as supplied by publisher]

The Burden of Sarcoidosis Symptoms from a Patient Perspective.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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The Burden of Sarcoidosis Symptoms from a Patient Perspective.

Lung. 2019 Feb 16;:

Authors: Voortman M, Hendriks CMR, Elfferich P, Bonella F, Møller J, De Vries J, Costabel U, Drent M

Abstract
PURPOSE: The clinical manifestations of sarcoidosis vary widely, depending on the intensity of the inflammation and the organ systems affected. Hence, sarcoidosis patients may suffer from a great variety of symptoms. The aim of this study was to compare the self-reported burden of sarcoidosis patients in Denmark, Germany and the Netherlands, especially the prevalence of fatigue and small fiber neuropathy (SFN)-related symptoms, as well as differences in treatment strategies.
METHODS: A cross-sectional web-based anonymous survey about complaints was conducted among sarcoidosis patients. Patients were invited to take part through the sarcoidosis patient societies as well as through outpatient sarcoidosis clinics in these countries.
RESULTS: The questionnaire was completed by 1072 sarcoidosis patients (152 Danish, 532 German and 388 Dutch). Almost all patients reported having sarcoidosis-associated symptoms (organ-related as well as non-specific, non-organ related). Fatigue was reported by almost all respondents (90%), followed by pulmonary symptoms (72.4%). More than 50% of the respondents were being treated with prednisone, which was comparable in all three countries. In contrast, second- and third-line treatment differed substantially between Denmark, Germany and the Netherlands.
CONCLUSION: Sarcoidosis patients in Denmark, Germany and the Netherlands present with similar self-reported symptoms, organ-related as well as non-specific, non-organ related. Fatigue (90%) and symptoms associated with SFN (86%) were highly prevalent in all three countries.

PMID: 30778661 [PubMed - as supplied by publisher]

Intravenous human immunoglobulin and/or methylprednisolone pulse therapies as a possible treat-to-target strategy in immune-mediated necrotizing myopathies.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
Related Articles

Intravenous human immunoglobulin and/or methylprednisolone pulse therapies as a possible treat-to-target strategy in immune-mediated necrotizing myopathies.

Rheumatol Int. 2019 Feb 18;:

Authors: de Souza JM, Hoff LS, Shinjo SK

Abstract
To evaluate the relevance of immunoglobulin (IVIg) and/or methylprednisolone pulse therapies in immune-mediated necrotizing myopathy (IMNM). Secondarily, to analyze the muscle damage measured by late magnetic resonance images (MRI). This retrospective study included 13 patients with defined IMNM (nine patients positive for the anti-signal recognition particle and four patients positive for hydroxyl-methyl-glutaryl coenzyme A reductase) who were followed from 2012 to 2018. International Myositis Assessment and Clinical Studies Group (IMACS) scoring assessed the response to a standardized treat-to-target protocol with disease activity core-set measures and late magnetic resonance imaging (MRI). The patients had a mean age of 53.5 years and were predominantly female and of white ethnicity. Median symptom and mean follow-up durations were 4 and 39 months, respectively. All patients received IVIg and/or methylprednisolone pulse therapies. All IMACS core-set measurements improved significantly after initial treatment. Nine patients achieved complete clinical response and among them 2 had complete remission. Eleven patients had discontinued glucocorticoid use by the end of the study. Only 2 patients had moderate muscle atrophy or fat replacement observed by MRI, with the remainder presenting normal or mild findings. Our patients with IMNM treated with an aggressive immunosuppressant therapy had a marked improvement in all IMACS core-set domains. Moreover, the MRI findings suggest that an early treat-to-target approach could reduce the odds of long-term muscle disability. Methylprednisolone and/or IVIg pulse therapies aiming at a target of complete clinical response are potential treatment strategies for IMNM that should be studied in future prospective studies.

PMID: 30778655 [PubMed - as supplied by publisher]

[Takayasu arteritis of atypical presentation. Tocilizumab as an alternative therapeutic option].

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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[Takayasu arteritis of atypical presentation. Tocilizumab as an alternative therapeutic option].

An Pediatr (Barc). 2019 Feb 15;:

Authors: Cubiles Arillo Z, Núñez Cuadros E, Martínez Rivera V, González Gómez JM, Cuenca Peiró V

PMID: 30777717 [PubMed - as supplied by publisher]

Sarcoidosis: No longer a benign disease?

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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Sarcoidosis: No longer a benign disease?

Respir Med. 2019 Feb 06;:

Authors: Gerke AK

PMID: 30777310 [PubMed - as supplied by publisher]

Two subgroups in systemic lupus erythematosus with features of antiphospholipid or Sjögren's syndrome differ in molecular signatures and treatment perspectives.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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Two subgroups in systemic lupus erythematosus with features of antiphospholipid or Sjögren's syndrome differ in molecular signatures and treatment perspectives.

Arthritis Res Ther. 2019 Feb 18;21(1):62

Authors: Idborg H, Zandian A, Sandberg AS, Nilsson B, Elvin K, Truedsson L, Sohrabian A, Rönnelid J, Mo J, Grosso G, Kvarnström M, Gunnarsson I, Lehtiö J, Nilsson P, Svenungsson E, Jakobsson PJ

Abstract
BACKGROUND: Previous studies and own clinical observations of patients with systemic lupus erythematosus (SLE) suggest that SLE harbors distinct immunophenotypes. This heterogeneity might result in differences in response to treatment in different subgroups and obstruct clinical trials. Our aim was to understand how SLE subgroups may differ regarding underlying pathophysiology and characteristic biomarkers.
METHODS: In a cross-sectional study, including 378 well-characterized SLE patients and 316 individually matched population controls, we defined subgroups based on the patients' autoantibody profile at inclusion. We selected a core of an antiphospholipid syndrome-like SLE (aPL+ group; positive in the lupus anticoagulant (LA) test and negative for all three of SSA (Ro52 and Ro60) and SSB antibodies) and a Sjögren's syndrome-like SLE (SSA/SSB+ group; positive for all three of SSA (Ro52 and Ro60) and SSB antibodies but negative in the LA test). We applied affinity-based proteomics, targeting 281 proteins, together with well-established clinical biomarkers and complementary immunoassays to explore the difference between the two predefined SLE subgroups.
RESULTS: The aPL+ group comprised 66 and the SSA/SSB+ group 63 patients. The protein with the highest prediction power (receiver operating characteristic (ROC) area under the curve = 0.89) for separating the aPL+ and SSA/SSB+ SLE subgroups was integrin beta-1 (ITGB1), with higher levels present in the SSA/SSB+ subgroup. Proteins with the lowest p values comparing the two SLE subgroups were ITGB1, SLC13A3, and CERS5. These three proteins, rheumatoid factor, and immunoglobulin G (IgG) were all increased in the SSA/SSB+ subgroup. This subgroup was also characterized by a possible activation of the interferon system as measured by high KRT7, TYK2, and ETV7 in plasma. In the aPL+ subgroup, complement activation was more pronounced together with several biomarkers associated with systemic inflammation (fibrinogen, α-1 antitrypsin, neutrophils, and triglycerides).
CONCLUSIONS: Our observations indicate underlying pathogenic differences between the SSA/SSB+ and the aPL+ SLE subgroups, suggesting that the SSA/SSB+ subgroup may benefit from IFN-blocking therapies while the aPL+ subgroup is more likely to have an effect from drugs targeting the complement system. Stratifying SLE patients based on an autoantibody profile could be a way forward to understand underlying pathophysiology and to improve selection of patients for clinical trials of targeted treatments.

PMID: 30777133 [PubMed - in process]

The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011-2015.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011-2015.

Orphanet J Rare Dis. 2019 Feb 18;14(1):49

Authors: Lim SS, Lee W, Kim YK, Kim J, Park JH, Park BR, Yoon JH

Abstract
BACKGROUND: The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumulative incidence of rare diseases and the trends in annual cumulative incidence from 2011 to 2015 in Korea by using nationwide administrative data from the Korean National Health Insurance Service (NHIS) database for patients registered with the co-payment assistance policy for rare and incurable diseases. Annual cumulative incidence per 10,000,000 was calculated as the total number of newly enrolled patients with the Korean Standard Classification of Diseases (KCD)-7 code in the register, divided by the number of residents with health insurance coverage during each year. We employed simple linear regression analysis to evaluate the trends in annual cumulative incidence/10,000,000 population per year for each rare disease.
RESULTS: Overall, national support was provided for patients with 415 KCD codes listed among the targeted rare diseases. The total number of newly enrolled patients with rare diseases was 53,831 in 2011, 52,658 in 2012, 52,955 in 2013, 71,530 in 2014, and 70,559 in 2015. The number of rare diseases with an average annual cumulative incidence of 100/10,000,000 and above was 22 (5.30%), while there were 227 (54.70%) and 148 (35.66%) with an average cumulative incidence between 1/10,000,000 and 100/10,000,000 and less than 1/10,000,000, respectively. The trends in the annual cumulative incidence for 43 rare diseases were statistically significant (p-value < 0.05). The rare diseases for which the incremental trend per year was statistically significant were sarcoidosis (D86, D86.0, D86.1, D86.2, D86.3, D86.8, D86.9), Parkinson's disease (G20), Guillain-Barré syndrome (G61.0), primary biliary cirrhosis (K74.3) and Sjogren's syndrome (M35.0).
CONCLUSIONS: The number of rare diseases showing an increasing trend in annual cumulative incidence was higher than the number of diseases showing a decreasing trend in annual cumulative incidence. Given that the definition and diagnosis vary based on country and that there is difficulty in identifying valid cases, further detection strategies are needed to establish the incidence of each rare disease considering the importance of establishing a health policy based on the actual incidence of the targeted diseases.

PMID: 30777110 [PubMed - in process]

Dickkopf-1 (Dkk-1) serum levels in systemic sclerosis and rheumatoid arthritis patients: correlation with the Trabecular Bone Score (TBS).

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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Dickkopf-1 (Dkk-1) serum levels in systemic sclerosis and rheumatoid arthritis patients: correlation with the Trabecular Bone Score (TBS).

Clin Rheumatol. 2018 Nov;37(11):3057-3062

Authors: Ruaro B, Casabella A, Paolino S, Pizzorni C, Ghio M, Seriolo C, Molfetta L, Odetti P, Smith V, Cutolo M

Abstract
The aim of this research was to determine any correlations between Dickkopf-1 serum levels (Dkk-1, a natural inhibitor of the Wnt signaling pathway promoting osteoclastogenesis) and the Trabecular Bone Score (TBS), in systemic sclerosis (SSc) and rheumatoid arthritis (RA) patients. It also aimed at determining any difference in Dkk-1 serum levels between SSc and RA patients and a control group (CNT) of healthy subjects. A prospective study was carried out in 60 SSc and 60 RA patients and 60 CNT. Dkk-1 serum levels were evaluated by the ELISA method (Quantikine Human Dkk-1 Immunoassay, R&D System, Minneapolis, USA). The severity of microvascular damage was evaluated by nailfold videocapillaroscopy (NVC patterns: "Early," "Active," "Late"), in the SSc patients. TBS analysis and bone mineral density (BMD, g/cm2) were measured in all patients/subjects. The SSc patients showed higher Dkk-1 serum levels than RA (p < 0.004) and CNT (p < 0.0001) patients. SSc patients, showing the "Late" NVC pattern had statistically higher Dkk-1 serum levels than patients with either the "Active" or "Early" (p < 0.004) patterns. Only in the "Late" NVC pattern group of SSc patients was there a significant negative correlation between Dkk-1 and TBS values (p < 0.0001). The increased Dkk-1 serum levels and decreased TBS values observed suggest a diffuse bone damage in SSc patients with advanced disease, as demonstrated by the concomitant presence of the "Late" NVC pattern. Moreover, the bone remodeling in SSc seems even higher than that in RA patients.

PMID: 30291470 [PubMed - indexed for MEDLINE]

Survival rate, causes of death, and risk factors in systemic sclerosis: a large cohort study.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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Survival rate, causes of death, and risk factors in systemic sclerosis: a large cohort study.

Clin Rheumatol. 2018 Nov;37(11):3051-3056

Authors: Li X, Qian YQ, Liu N, Mu R, Zuo Y, Wang GC, Jia Y, Li ZG

Abstract
To investigate the clinical pattern, survival rate, causes of death and risk factors in a large cohort of Chinese Han patients with systemic sclerosis (SSc). Inpatients treated from 2002 to 2014 were included in this study. Patients were classified into diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc), and SSc-overlap syndrome groups. Data were analyzed using Chi-squared tests, Kaplan-Meier curves, log-rank tests, and Cox proportional hazards modeling. Among a total of 201 patients, dcSSc (50.2%) was the major subtype, followed by lcSSc (30.3%) and SSc-overlap (19.4%). Interstitial lung disease (ILD, 148/201, 74%) was the most frequent organ involvement. The overall survival rates were 98% and 95% at 5 and 10 years, respectively. The overall standard mortality ratio (SMR) was 2.22. The most common cause of death was ILD combined with infection (8/16, 50%), followed by kidney failure (2/16, 12.5%). On crude analysis, pulmonary hypertension, ILD, cardiac involvements, renal involvements, and digital ischemia were associated with poor prognosis. On multivariate analysis, pericardial effusion (p = 0.000) and digital ischemia (p = 0.016) were independent prognostic factors of death. The mortality rate of patients with SSc is mildly increased in comparison with the general population. ILD is the most common systemic involvement and the principal cause of death in SSc. Pericardial effusion and digital ischemia are independent factors associated with death.

PMID: 30225558 [PubMed - indexed for MEDLINE]

Right ventricular longitudinal strain is diminished in systemic sclerosis compared with idiopathic pulmonary arterial hypertension.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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Right ventricular longitudinal strain is diminished in systemic sclerosis compared with idiopathic pulmonary arterial hypertension.

Eur Respir J. 2017 11;50(5):

Authors: Mukherjee M, Mercurio V, Tedford RJ, Shah AA, Hsu S, Mullin CJ, Sato T, Damico R, Kolb TM, Mathai SC, Hassoun PM

PMID: 29167303 [PubMed - indexed for MEDLINE]

Mechanics and prognostic value of left and right ventricular dysfunction in patients with systemic sclerosis.

Actualités En Médecine Interne - mer, 20/02/2019 - 14:59
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Mechanics and prognostic value of left and right ventricular dysfunction in patients with systemic sclerosis.

Eur Heart J Cardiovasc Imaging. 2018 06 01;19(6):660-667

Authors: Saito M, Wright L, Negishi K, Dwyer N, Marwick TH

Abstract
Aims: Impairment of myocardial function is an important potential complication of systemic sclerosis (SSc) and associated with poor prognosis. The detection of left (LV) and right ventricular (RV) dysfunction may prompt specific therapeutic interventions. We sought to investigate the prognostic value of both LV and RV deformation in patients with SSc.
Methods and results: Speckle tracking LV strain parameters [global longitudinal strain (GLS) and global circumferential strain (GCS)] and tricuspid annular peak systolic velocity (Ts') were measured in 103 patients with SSc and 103 age- and gender-matched controls. Subjects were followed for a median of 3.4 years for heart failure-specific admission or death, and the association of the study parameters with outcome was assessed using Cox proportional hazards models. GLS, GCS, and Ts' were significantly impaired in patients with SSc, even without pulmonary hypertension, compared with controls. GCS (r2 = 0.07, P = 0.03) but not GLS (r2 = 0.04, P = 0.11) was associated with systolic pulmonary artery pressure. During follow-up, SSc patients (n = 17, 17%) had more events than controls (n = 7, 7%, P = 0.04). In SSc patients, GCS (but not GLS), Ts', and 6-minute walk distance (6MWD) were significantly associated with outcome. 6MWD and Ts' (but not GCS) were independently associated with outcome. A model based on age, gender, 6MWD, and GCS was significantly improved by adding by adding Ts' (P = 0.02).
Conclusion: RV dysfunction was associated with adverse outcome, independent of and incremental to clinical and LV deformation parameters in SSc. LV dysfunction appears to have less prognostic relevance than RV dysfunction.

PMID: 28977395 [PubMed - indexed for MEDLINE]

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