Capi-score: a quantitative algorithm for identifying disease patterns in nailfold videocapillaroscopy.

OBJECTIVES: The European Alliance of Associations for Rheumatology (EULAR) supports the use of nailfold videocapillaroscopy (NVC) to identify disease patterns (DPs) associated with systemic sclerosis (SSc) and Raynaud's phenomenon (RP). Recently, EULAR proposed an easy-to-manage procedure, a so-called Fast Track algorithm, to differentiate SSc from non-SSc patterns in NVC specimens. However, subjectivity among capillaroscopists remains a limitation. Our aim was to perform a software-based analysis of NVC peculiarities in a cohort of samples from SSc and RP patients and, subsequently, build a Fast Track-inspired algorithm to identify DPs without the constraint of interobserver variability. METHODS: NVCs were examined by 9 capillaroscopists. Those NVCs whose DPs were consensually agreed (≥2 out of 3 interobservers) were subsequently analysed with an in-house developed software. Each variable's results were grouped according to the consensually agreed DPs in order to identify useful hallmarks to categorise them. RESULTS: Eight-hundred and fifty-one NVCs (21 957 images) whose DPs had been consensually agreed were software-analysed. Appropriate cut-offs set in capillary density and percentage of abnormal and giant capillaries, tortuosities and hemorrhages allowed DP categorization and the development of the CAPI-Score algorithm. This consisted of 4 rules: Rule 1, SSc vs non-SSc, accuracy 0.88; Rules 2 and 3, SSc-early vs SSc-active vs SSc-late, accuracy 0.82; Rule 4, non-SSc normal vs non-SSc non-specific, accuracy 0.73. Accuracy improved when the analysis was limited to NVCs whose DPs had achieved full consensus among interobservers. CONCLUSIONS: The CAPI-Score algorithm may become a useful tool to assign DPs by overcoming the limitations of subjectivity.

Immunoglobulins in systemic sclerosis management. A large multicenter experience.

OBJECTIVE: To analyze the effectiveness and safety of intravenous immunoglobulin (IVIG) given in routine care to patients with systemic sclerosis (SSc). METHODS: A retrospective multicenter observational study was conducted in SSc patients treated with IVIG. We collected data on epidemiological parameters and clinical outcomes. Firstly, we assessed changes in organ manifestations during IVIG treatment. Secondly, we analyzed the frequency of adverse effects. The following parameters were collected from baseline to the last follow-up: the patient's weight, modified Rodnan Skin Score (mRSS), modified manual muscle strength scale (MRC), laboratory test(creatine kinase(CK), hemoglobin and protein levels), The University of California Los Angeles Scleroderma Clinical Trials Consortium gastrointestinal tract 2.0 (UCLA GIT 2.0) questionnaire, pulmonary function tests, and echocardiography. RESULTS: Data were collected on 78 patients (82% females; 59% with diffuse SSc). Inflammatory idiopathic myopathy was the most frequent concomitant overlap disease (41%). The time since Raynaud's phenomenon and SSc onset were 8.8 ± 18 and 6.2 ± 6.7 years respectively. The most frequent IVIG indication was myositis (38/78), followed by gastrointestinal (27/78) and cutaneous (17/78) involvement. The median number of cycles given were 5. 54, 53 and 9 patients have been treated previously with glucocorticoids, synthetic disease-modifying antirheumatic drugs and biologic therapies respectively. After IVIG use we found significant improvements in muscular involvement (MRC ≥ 3/5 92% IVIG, p = 0.001 and CK levels from 1149 ± 2026 UI to 217 ± 224 UI, p = 0.02), mRSS (15 ± 12.4 to 13 ± 12.5, p = 0.015) and improvement in total score of UCLA GIT 2.0 (p = 0.05). None Anti-RNA polymerase III patients showed an adequate response in gastrointestinal involvement (0/7) in comparison with other antibodies (0 vs. 25, p = 0,039). Cardiorespiratory involvement remained stable. A total of 12 adverse events were reported with only one withdrawn due to serious adverse effect. CONCLUSIONS: this study suggest that IVIG may improve myositis, gastrointestinal and skin involvement in SSc patients treated in routine care and seems to have a good safety profile.

[Transbronchial lung cryobiopsy in interstitial lung diseases]. / Les cryobiopsies pulmonaires transbronchiques dans les pneumopathies infiltrantes diffuses.

In some cases of interstitial lung disease (ILD), clinical and biological findings associated with CT scan pattern during multidisciplinary discussion (MDD) fail to yield a confident diagnosis. In these cases, histology may be necessary. Transbronchial lung cryobiopsy (TBLC) is a bronchoscopic procedure that has been developed in recent years and currently contributes to diagnostic work-up in patients with ILD. TBLC provides tissue samples for histological analysis with an acceptable risk of complications, consisting mainly in pneumothorax or bleeding. In addition to higher diagnostic yield than conventional forceps biopsies, the procedure shows a better safety profile than surgical biopsies. The indication to perform TBLC is decided during a 1st MDD and during a 2nd MDD, results can provide a diagnostic yield approximating 80%. TBLC appears to be an attractive, minimally invasive technique to be proposed as a first-line procedure in selected patients in experienced centers, while surgical lung biopsy may be considered as a second-line solution.

Dehiscencia de herida quirúrgica y exposición material de osteosíntesis. ¿Infección segura? / Surgical wound dehiscence and exposed hardware. Infection foretold?

Resumen: Introducción: la dehiscencia de herida quirúrgica con exposición de material de fijación interna es un grave problema en cirugía ortopédica y un factor importante de infección. Objetivo: descripción del caso inusual de un paciente adulto con dehiscencia de la herida quirúrgica y exposición completa de 20 cm de largo de una placa de cúbito tras seis años de la cirugía, sin signos de infección, consolidación ósea y reepitelización debajo de la placa y adherida al hueso. Caso clínico: hombre de 39 años que sufrió una fractura-luxación de Monteggia, abierta grado II y multifragmentaria. El paciente tenía historia de drogodependencia en tratamiento con metadona. Fue tratado con fijación interna del cúbito mediante una placa de reconstrucción larga. Postoperatoriamente, el paciente dejó de acudir para evaluación. A los seis años de la cirugía presentaba una completa exposición de la placa (20 cm de longitud), sin signos de infección y consolidación con malalineación de la fractura. Tras el retiro de la placa se observó epitelización espontánea adherida al lecho óseo cubital. La cobertura cutánea fue completa a los dos meses. Conclusión: aunque inusual, es posible la consolidación ósea y la ausencia de infección en una fractura abierta con exposición de larga evolución de una placa de antebrazo en el adulto.

Abstract: Introduction: surgical wound dehiscence with exposure of internal fixation material is a serious problem in orthopedic surgery and an important factor for infection. Objective: presentation of an unusual case of an adult patient with surgical wound dehiscence and complete exposure of 20 cm of the ulnar plate after six years of surgery, without infection signs, with bone healing and skin behind the plate. Case presentation: 39-year-old man with an open Gustilo II Monteggia fracture-dislocation multifracture. The patient had a history of drug dependence. He had an open reduction and internal fixation with an ulnar reconstruction plate. The patient did not have any follow-up. After six years of the surgery, there was a complete exposure of the plate (20 cm) without infection and healing of the fracture with misalignment. After removing the plate, we observed spontaneous epithelialization attached to the bone bed. Skin coverage was complete at two months. Conclusion: although unusual, bone consolidation without infection is possible in an open fracture with long-standing exposure to a forearm plate in the adult.

[Surgical wound dehiscence and exposed hardware. Infection foretold?] / Dehiscencia de herida quirúrgica y exposición material de osteosíntesis. ¿Infección segura?

INTRODUCTION: surgical wound dehiscence with exposure of internal fixation material is a serious problem in orthopedic surgery and an important factor for infection. OBJECTIVE: presentation of an unusual case of an adult patient with surgical wound dehiscence and complete exposure of 20 cm of the ulnar plate after six years of surgery, without infection signs, with bone healing and skin behind the plate. CASE PRESENTATION: 39-year-old man with an open Gustilo II Monteggia fracture-dislocation multifracture. The patient had a history of drug dependence. He had an open reduction and internal fixation with an ulnar reconstruction plate. The patient did not have any follow-up. After six years of the surgery, there was a complete exposure of the plate (20 cm) without infection and healing of the fracture with misalignment. After removing the plate, we observed spontaneous epithelialization attached to the bone bed. Skin coverage was complete at two months. CONCLUSION: although unusual, bone consolidation without infection is possible in an open fracture with long-standing exposure to a forearm plate in the adult.

INTRODUCCIÓN: la dehiscencia de herida quirúrgica con exposición de material de fijación interna es un grave problema en cirugía ortopédica y un factor importante de infección. OBJETIVO: descripción del caso inusual de un paciente adulto con dehiscencia de la herida quirúrgica y exposición completa de 20 cm de largo de una placa de cúbito tras seis años de la cirugía, sin signos de infección, consolidación ósea y reepitelización debajo de la placa y adherida al hueso. CASO CLÍNICO: hombre de 39 años que sufrió una fractura-luxación de Monteggia, abierta grado II y multifragmentaria. El paciente tenía historia de drogodependencia en tratamiento con metadona. Fue tratado con fijación interna del cúbito mediante una placa de reconstrucción larga. Postoperatoriamente, el paciente dejó de acudir para evaluación. A los seis años de la cirugía presentaba una completa exposición de la placa (20 cm de longitud), sin signos de infección y consolidación con malalineación de la fractura. Tras el retiro de la placa se observó epitelización espontánea adherida al lecho óseo cubital. La cobertura cutánea fue completa a los dos meses. CONCLUSIÓN: aunque inusual, es posible la consolidación ósea y la ausencia de infección en una fractura abierta con exposición de larga evolución de una placa de antebrazo en el adulto.

[Epidemiology, clinical results and success rate in hip preservation surgery in avascular osteonecrosis of the femoral head]. / Epidemiología, resultados clínicos y tasa de éxito en cirugía preservadora de cadera en la necrosis avascular de cabeza femoral.

INTRODUCTION: Avascular osteonecrosis of the femoral head (ONFH) is a frequent pathology with an insidious and asymptomatic presentation in early stages, so the diagnosis is often made in advanced stages, where the only effective solution is total hip arthroplasty (THA). Diagnosis in early stages will allow the use of therapeutic options that avoid or delay ATC. Our objective is to evaluate the demographic, clinical results and the success rate in our center of patients diagnosed with ONFH and who have been subsidiary of hip preservation surgery. MATERIAL AND METHODS: Unicentric, prospective, uncontrolled clinical study of patients diagnosed with ONFH between January 2012 and September 2017 with a Steinberg IIIA stage. The surgical technique used is decompressive forage, associated with bone allograft and bone marrow aspiration. RESULTS: 26 hips were operated on with our surgical technique. The success rate obtained is 61.54%, since 10 cases have required THA during the study (38.46%). CONCLUSIONS: The therapeutic success in ONFH is directly related to the degree of the disease, which is why early diagnosis is important. The decompressive forage with bone allograft that associates bone marrow aspiration is an option to be taken into account, since in early stages it shows a high success rate.

INTRODUCCIÓN: La necrosis avascular de cabeza femoral (NACF) es una patología frecuente que en sus inicios es asintomática y se manifiesta de forma insidiosa, por lo que a menudo el diagnóstico se realiza en estadios avanzados, donde la única solución eficaz es la artroplastía total de cadera (ATC). El diagnóstico en fases precoces permitirá utilizar opciones terapéuticas que eviten o retrasen la ATC. Nuestro objetivo es valorar los resultados demográficos, clínicos y la tasa de éxito en nuestro centro de pacientes con diagnóstico de NACF y que han sido subsidiarios de cirugía de preservación de cadera. MATERIAL Y MÉTODOS: Estudio clínico unicéntrico, prospectivo, no controlado de pacientes con diagnóstico de NACF entre Enero de 2012 y Septiembre de 2017 con un estadio Steinberg IIIA. La técnica quirúrgica utilizada es el forage descompresivo, asociado a relleno con aloinjerto y aspirado de médula ósea. RESULTADOS: Se intervinieron 26 caderas con nuestra técnica quirúrgica. La tasa de éxito obtenida es de 61.54%, ya que 10 casos han precisado ATC durante el estudio (38.46%). CONCLUSIÓN: El éxito terapéutico en la NACF está directamente relacionado con el grado de la enfermedad, por lo que es importante el diagnóstico precoz. El forage descompresivo con relleno de aloinjerto que asocia aspirado de médula ósea es una opción a tener en cuenta, ya que en estadios iniciales muestra una elevada tasa de éxito.

Low prevalence of Cutibacterium acnes in prostatic tissue biopsies in a French hospital.

We evaluated the Cutibacterium acnes prevalence in prostatic biopsies and characterized the strains at a molecular level. 18 out of 36 biopsies (50%) were sterile after seven days in culture. C. acnes was observed in only two biopsies. Its prevalence was low (5.6%). Finally, the molecular characterization revealed diverse clusters including phylotypes IA1, IB and II.

Comparación del abordaje abierto frente al artroscópico en el tratamiento del choque femoroacetabular / Comparison of the open versus the arthroscopic approach in the treatment of femoroacetabular shock

OBJETIVOS: Comparar clínica y radiográficamente los resultados y complicaciones del tratamiento quirúrgico del choque femoroacetabular, mediante cirugía abierta o abordaje artroscópico. MÉTODOS: Estudio retrospectivo en el que se incluye a los pacientes intervenidos entre junio de 2009 y enero de 2018 de choque femoroacetabular mediante abordaje abierto o artroscópico. De dichos pacientes se obtuvieron datos diagnósticos, resultados pre- y postoperatorios del ángulo α, escala Tönnis, valoración clínica mediante Harris Hip Score, estancia hospitalaria y posibles complicaciones así como evolución a prótesis total de cadera. RESULTADOS: Fueron incluidos en el estudio 57 pacientes, de los cuales 27 fueron sometidos a femoroplastia abierta (45,6%) y 31 a cirugía artroscópica de cadera (54,4%). A la hora de comparar los resultados obtenidos en cuanto corrección de ángulo α y de la puntuación del Harris Hip Score, no se obtuvieron diferencias estadísticamente significativas. Donde sí se encontraron diferencias estadísticamente significativas fue en la estancia hospitalaria, siendo aquí superior aquellas femoroplastias realizadas mediante cirugía artroscópica. CONCLUSIÓN: Ambas técnicas quirúrgicas para el tratamiento del choque femoroacetabular son válidas y obtienen resultados satisfactorios, si bien es cierto que la artroscopia está demostrando resultados superiores respecto a la cirugía abierta en el acortamiento de los tiempos quirúrgicos, estancia hospitalaria y recuperación postoperatoria

OBJECTIVE: To compare clinical and imaging results and complications between patients treated for femoroacetabular impingement who underwent either open surgery or an arthroscopic approach. METHODS: This retrospective study included patients who underwent femoroacetabular impingement surgical treatment between June 2009 and January 2018. Patients treated with open surgery were compared with those treated with arthroscopy. Patients were radiographically and clinically assessed by alpha angle, degree of arthritis, Harris Hip Score, hospital stay and complications, as well as progression to total hip arthroplasty. RESULTS: 57 patients with FAI were included; 27 (45.6%) underwent open surgery and 31 (54.4%) underwent arthroscopy. Statistically significant differences were observed in hospital stay, where the patients who underwent arthroscopic surgery showed better outcomes. There were no other statistically significant differences, the results were similar in both groups. CONCLUSIONS: Arthroscopy and open surgery treatments for femoroacetabular impingement provided comparable clinical and radiographic results. However, the latter surgery provides better results in surgery time, hospital stay and postoperative recovery

Epidemiología, resultados clínicos y tasa de éxito en cirugía preservadora de cadera en la necrosis avascular de cabeza femoral / Epidemiology, clinical results and success rate in hip preservation surgery in avascular osteonecrosis of the femoral head

Resumen: Introducción: La necrosis avascular de cabeza femoral (NACF) es una patología frecuente que en sus inicios es asintomática y se manifiesta de forma insidiosa, por lo que a menudo el diagnóstico se realiza en estadios avanzados, donde la única solución eficaz es la artroplastía total de cadera (ATC). El diagnóstico en fases precoces permitirá utilizar opciones terapéuticas que eviten o retrasen la ATC. Nuestro objetivo es valorar los resultados demográficos, clínicos y la tasa de éxito en nuestro centro de pacientes con diagnóstico de NACF y que han sido subsidiarios de cirugía de preservación de cadera. Material y métodos: Estudio clínico unicéntrico, prospectivo, no controlado de pacientes con diagnóstico de NACF entre Enero de 2012 y Septiembre de 2017 con un estadio Steinberg ≤ IIIA. La técnica quirúrgica utilizada es el forage descompresivo, asociado a relleno con aloinjerto y aspirado de médula ósea. Resultados: Se intervinieron 26 caderas con nuestra técnica quirúrgica. La tasa de éxito obtenida es de 61.54%, ya que 10 casos han precisado ATC durante el estudio (38.46%). Conclusión: El éxito terapéutico en la NACF está directamente relacionado con el grado de la enfermedad, por lo que es importante el diagnóstico precoz. El forage descompresivo con relleno de aloinjerto que asocia aspirado de médula ósea es una opción a tener en cuenta, ya que en estadios iniciales muestra una elevada tasa de éxito.

Abstract: Introduction: Avascular osteonecrosis of the femoral head (ONFH) is a frequent pathology with an insidious and asymptomatic presentation in early stages, so the diagnosis is often made in advanced stages, where the only effective solution is total hip arthroplasty (THA). Diagnosis in early stages will allow the use of therapeutic options that avoid or delay ATC. Our objective is to evaluate the demographic, clinical results and the success rate in our center of patients diagnosed with ONFH and who have been subsidiary of hip preservation surgery. Material and methods: Unicentric, prospective, uncontrolled clinical study of patients diagnosed with ONFH between January 2012 and September 2017 with a Steinberg ≤ IIIA stage. The surgical technique used is decompressive forage, associated with bone allograft and bone marrow aspiration. Results: 26 hips were operated on with our surgical technique. The success rate obtained is 61.54%, since 10 cases have required THA during the study (38.46%). Conclusions: The therapeutic success in ONFH is directly related to the degree of the disease, which is why early diagnosis is important. The decompressive forage with bone allograft that associates bone marrow aspiration is an option to be taken into account, since in early stages it shows a high success rate.

Comparison of the open versus the arthroscopic approach in the treatment of femoroacetabular shock. / Comparación del abordaje abierto frente al artroscópico en el tratamiento del choque femoroacetabular.

OBJECTIVE: To compare clinical and imaging results and complications between patients treated for femoroacetabular impingement who underwent either open surgery or an arthroscopic approach. METHODS: This retrospective study included patients who underwent femoroacetabular impingement surgical treatment between June 2009 and January 2018. Patients treated with open surgery were compared with those treated with arthroscopy. Patients were radiographically and clinically assessed by alpha angle, degree of arthritis, Harris Hip Score, hospital stay and complications, as well as progression to total hip arthroplasty. RESULTS: 57 patients with FAI were included; 27 (45.6%) underwent open surgery and 31 (54.4%) underwent arthroscopy. Statistically significant differences were observed in hospital stay, where the patients who underwent arthroscopic surgery showed better outcomes. There were no other statistically significant differences, the results were similar in both groups. CONCLUSIONS: Arthroscopy and open surgery treatments for femoroacetabular impingement provided comparable clinical and radiographic results. However, the latter surgery provides better results in surgery time, hospital stay and postoperative recovery.

Histoplasma capsulatum causing sinusitis: a case report in French Guiana and review of the literature.

BACKGROUND: American histoplasmosis is a mycosis caused by Histoplasma capsulatum. A variety of clinical features of histoplasmosis have been commonly described ranging from asymptomatic infections to severe pulmonary infections. In immunocompromised individuals, progressive disseminated forms are frequent, leading to fatal outcome if untreated. However, H. capsulatum sinusitis is unusual with a few cases documented over the last three decades and may be underdiagnosed or confused with other fungal aetiologies, especially outside endemic regions. CASE PRESENTATION: In this study, we report an atypical case of Histoplasma capsulatum sinus fungus ball-like in a patient with Acquired Immunodeficiency Syndrome due to Human Immunodeficiency Virus complicated by a disseminated histoplasmosis with a death ending. Diagnosis relied on CT-Scan imaging and on both direct examination of H. capsulatum yeast forms (Gomory methenamine Grocott) in the sinus specimen (aspirate, biopsy) and on positivity of the culture further confirmed by qPCR. CONCLUSIONS: Since last few decades, among the eight reviewed patients, H. capsulatum sinusitis occurred mostly in HIV-immunocompromised patients and for three cases as a sinusitis with disseminated histoplasmosis. Even if this is a rare clinical presentation, its diagnosis is crucial as it could represent an early expression of an Histoplasma capsulatum exposure that can evolve into a disseminated fatal infection when immunity decreases.

Subclinical cardiovascular disease and Systemic Sclerosis: A comparison between risk charts, quantification of coronary calcium and carotid ultrasonography.

BACKGROUND AND OBJECTIVES: Recently published population-based cohort studies have shown a high prevalence of cardiovascular disease in Systemic Sclerosis (SSc) patients. The aim of this study is to compare three different methods to measure cardiovascular risk in patients with scleroderma. METHODS: Forty-three SSc patients were included. A prospective study was performed for evaluation of cardiovascular risk and subclinical atheromatosis using 3 non-invasive methods: cardiovascular risk tables, carotid Doppler ultrasonography and quantification of coronary calcium by computerized tomography (CT). RESULTS: The cardiovascular risk charts for the Spanish population did not identify patients at high cardiovascular risk. Framingham-REGICOR identified 13 intermediate-risk patients. Twenty-two patients (51.2%) had plaques on carotid ultrasonography. We performed a ROC curve to identify the best cutoff point for the quantification of coronary artery calcium (CACscore), the value of CACscore > 28 AU (Agatston Units) had the highest sensitivity (73%) and specificity (81%) for the diagnosis of subclinical atheromatosis. In the multiple regression study, age and decreased HDL cholesterol levels were identified as independent factors for subclinical atherosclerotic disease. No disease-related factors were associated with increased subclinical arteriosclerosis. CONCLUSION: Carotid ultrasound and CACscore are useful for identifying subclinical atheromatosis in patients with SSc and are superior compared to risk charts used for general population. HDL cholesterol and age were independent factors for the presence of subclinical atherosclerotic disease. A carotid ultrasound or CT should be performed for early detection of subclinical atheromatosis if these factors are present.

Interstitial lung disease in systemic sclerosis: data from the spanish scleroderma study group.

OBJECTIVES: To evaluate the clinical characteristics of patients with interstitial lung disease (ILD) in the setting of a large cohort of systemic sclerosis (SSc) patients, and to analyse the differences according to the SSc subtype (following the modification of classification criteria of the American College of Rheumatology for SSc proposed by LeRoy and Medsger), factors are associated with moderate-to-severe impairment of lung function, as well as mortality and causes of death. METHODS: A descriptive study was performed, using the available data from the Spanish Scleroderma Study Group. RESULTS: Twenty-one referral centers participated in the registry. By April 2014, 1374 patients with SSc had been enrolled, and 595 of whom (43%) had ILD: 316 (53%) with limited cutaneous SSc (lcSSc), 240 (40%) with diffuse cutaneous SSc (dcSSc), and 39 (7%) with SSc sine scleroderma (ssSSc). ILD in the lcSSc and the ssSSc subsets tended to develop later, and showed a less impaired forced vital capacity (FVC) and a ground glass pattern on high-resolution computed tomography (HRCT) less frequently, compared with the dcSSc subset. Factors related to an FVC < 70% of predicted in the multivariate analysis were: dcSSc, positivity to anti-topoisomerase I antibodies, a ground glass pattern on HCRT, an active nailfold capillaroscopy pattern, lower DLco, older age at symptoms onset, and longer time between symptoms onset and ILD diagnosis. Finally, SSc-associated mortality and ILD-related mortality were highest in dcSSc patients, whereas that related to pulmonary arterial hypertension was highest in those with lcSSc-associated ILD. CONCLUSIONS: Our study indicates that ILD constitutes a remarkable complication of SSc with significant morbidity and mortality, which should be borne in mind in all three subgroups (lcSSc, dcSSc, and ssSSc).

[Clustered cases of histoplasmosis due to Histoplasma capsulatum var. capsulatum in Martinique: Case reports and environmental investigation]. / Cas groupés d'histoplasmoses à Histoplasma capsulatum var. capsulatum à la Martinique : description des cas et enquête environnementale.

Between the 24th of June and the 6th of July 2005, nine men came to Fort-de-France emergency department (Martinique, French West Indies) with more or less pronounced pulmonary symptoms associated in two cases with skin lesions. Three weeks before these nine men performed work in a deserted house. The diagnosis of histoplasmosis was based on pulmonary sample mycological analysis (direct examination and culture), molecular biology and serological tests. Interrogatory and environmental investigations on the presumed place of exposition to H. capsulatum var. capsulatum spores allowed confirming how and where contamination took place.

Sequence analysis of TMEM173 exon 5 in patients with systemic autoimmune diseases.

BACKGROUND: Overactivation of the interferon pathways has been demonstrated in patients suffering from different systemic autoimmune diseases (SADs). Genetic associations have been described for many genes involved in these pathways. Gain-of-function mutations in the TMEM173 gene have recently been reported in patients with autoinflammatory diseases that share some clinical features with SADs. METHODS: We aimed at detecting the reported three mutations of transmembrane protein 173 (TMEM173) exon 5 in 100 patients suffering from: systemic lupus erythematosus (SLE) (n = 22), primary antiphospholipid syndrome (PAPS) (n = 20), systemic sclerosis (SSc) (n = 20), dermatomyositis (DM) (n = 20), and vasculitis (n = 18). Samples from 19 healthy controls were also included. Sequence analyses were performed from the derived TMEM173 exon 5 PCR fragment amplified from DNA obtained from whole blood. RESULTS: Neither mutations nor single nucleotide polymorphisms (SNPs) in the exon 5 of the TMEM173 gene were detected. Just the rs7380272 SNP, located in the intronic region upstream exon 5, was detected in some patients and controls. The allele frequency of this SNP, though, was not statistically different between the patients groups and the control group. CONCLUSIONS: Our study demonstrates the lack of association between the presence of SADs and mutations in exon 5 of the TMEM173 gene. SADs are complex multifactorial diseases in which not just one but probably many different genetic alterations may coexist. Although we cannot rule out the possibility that other variations may exist in other regions of this gene, we think that studies must be directed towards the analysis of other genes which, as TMEM173, also code for nucleic acid sensors that activate the nucleic-acid induced type I IFN pathway.

Registry of the Spanish Network for Systemic Sclerosis: Survival, Prognostic Factors, and Causes of Death.

Systemic sclerosis (SSc) is a rare, multisystem disease showing a large individual variability in disease progression and prognosis. In the present study, we assess survival, causes of death, and risk factors of mortality in a large series of Spanish SSc patients. Consecutive SSc patients fulfilling criteria of the classification by LeRoy were recruited in the survey. Kaplan-Meier and Cox proportional-hazards models were used to analyze survival and to identify predictors of mortality. Among 879 consecutive patients, 138 (15.7%) deaths were registered. Seventy-six out of 138 (55%) deceased patients were due to causes attributed to SSc, and pulmonary hypertension (PH) was the leading cause in 23 (16.6%) patients. Survival rates were 96%, 93%, 83%, and 73% at 5, 10, 20, and 30 years after the first symptom, respectively. Survival rates for diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc were 91%, 86%, 64%, and 39%; and 97%, 95%, 85%, and 81% at 5, 10, 20, and 30 years, respectively (log-rank: 67.63, P < 0.0001). The dcSSc subset, male sex, age at disease onset older than 65 years, digital ulcers, interstitial lung disease (ILD), PH, heart involvement, scleroderma renal crisis (SRC), presence of antitopoisomerase I and absence of anticentromere antibodies, and active capillaroscopic pattern showed reduced survival rate. In a multivariate analysis, older age at disease onset, dcSSc, ILD, PH, and SRC were independent risk factors for mortality. In the present study involving a large cohort of SSc patients, a high prevalence of disease-related causes of death was demonstrated. Older age at disease onset, dcSSc, ILD, PH, and SRC were identified as independent prognostic factors.

Prevalence of HHV-8 in systemic autoimmune diseases.

BACKGROUND: Epidemiological data suggest that some viruses may be linked to the development of autoimmunity. OBJECTIVES: The objective of this work was to determine the presence of HHV-8 viral DNA in whole blood from patients suffering from different systemic autoimmune diseases (SAD). We also aimed at testing the prevalence of patients showing antibodies against an HHV-8 orfK8.1 peptide. STUDY DESIGN: Two hundred and eighty SAD patients and 50 healthy blood donor controls were included. Molecular analyses were performed by nested PCR from DNA obtained from whole blood and an enzyme immunoassay was developed in order to test for the presence of antibodies directed against a synthetic peptide derived from the HHV-8 orfK8.1 protein. RESULTS: Only 2 out of the 280 samples analyzed yielded the specific HHV-8 PCR product. Antibodies against orfK8.1 were detected in 2 SLE patients, 1 patient suffering from Sjögren's syndrome and 2 patients with vasculitis. CONCLUSIONS: We conclude that HHV-8 is usually not present in blood neither from autoimmune patients nor from healthy controls. Furthermore, HHV-8 antibodies against the HHV-8 orfK8.1 peptide were rarely detected. It leads us to infer that HHV-8 is not involved on the development of these disorders. It does not rule out the possibility that other environmental and microbiological triggers may account for their etiopathogenesis.

[Paracoccidioidomycosis of the external ear]. / Paracoccidioïdomycose localisée au pavillon d'une oreille.

BACKGROUND: Paracoccidioidomycosis is a systemic fungal infection common in Latin America. Cutaneous involvement is frequent and usually affects multiple sites, being most frequently associated with lesions of the oropharyngeal mucosa. The cutaneous form on its own is rare. PATIENTS AND METHODS: We report a case of paracoccidioidomycosis isolated from the ear of a 43-year-old immunocompetent man. The lesion consisted of a partially ulcerated plaque on the auricle of the left ear. Direct examination, histopathological examination and PCR revealed the presence in the skin lesion of yeasts identified as Paracoccidioides brasiliensis. DISCUSSION: The sites of paracoccidioidomycosis on the ear can be confused with other tropical diseases frequently found in the Amazon region such as leishmaniasis, leprosy and lobomycosis. The absence of any other cutaneous sites in this case raised the question of whether the lesion was of primary or secondary origin.

Systemic sclerosis sine scleroderma and limited cutaneous systemic sclerosis: similarities and differences.

OBJECTIVES: To compare a cohort of patients with systemic sclerosis sine scleroderma (ssSSc) vs. patients with limited cutaneous systemic sclerosis (lcSSc). METHODS: Forty-five patients with ssSSc and 186 patients with lcSSc were investigated. Demographic, clinical and immunologic features and survival were compared. RESULTS: There were no significant differences between ssSSc and lcSSc in gender, age at onset and interval between onset and diagnosis. ssSSc patients fulfilled the ACR criteria for SSc less than lcSSc patients (13%/77%, p<0.0001). There were no significant differences in articular involvement, myopathy, tendon friction rubs and gastrointestinal, pulmonary, cardiac and renal involvements. There was a trend to higher prevalence of pulmonary arterial hypertension (PAH) in ssSSc patients (29%/19%) but not reach significant difference. The prevalence of antinuclear and anticentromere antibodies and slow capilaroscopic pattern was similar. Sicca syndrome (13%/30%; p=0.024), digital ulcers (16%/50%; p<0.0001), calcinosis (11%/26%; p=0.047) and acroosteolysis (0% /10%; p=0.028) were more frequently in lcSSc. Survival at 5, 10, and 15 yr was not different in ssSSc and lcSSc patients (100%/98%, 100%/98%, and 92%/89%, respectively). CONCLUSIONS: ssSSc and lcSSc patients share demographic, clinical and immunologic features. Survival is also similar in both groups. Differences are mainly due to peripheral vascular manifestations. However, despite great similarities, we believe that ssSSc patients should be considered as a different subset in order to avoid misdiagnosis. ssSSc patients should be truly differentiated from early SSc using sensitive and specific studies looking for any asymptomatic organ involvement.