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1.
Ann Hepatol ; 17(2): 335-338, 2018 Mar 01.
Article in English | MEDLINE | ID: mdl-29469037

ABSTRACT

Hepatitis E in industrialized countries is mainly associated with genotype 3 hepatitis E virus (HEV) and normally causes a sporadic self-limiting disease in immunocompetent individuals. Unlike genotype 3, genotypes 1 and 2 circulate in developing countries, produce severe disease and occur in the epidemic form. Hepatitis E occurring in travellers returning from endemic areas in developing countries is not a novel epidemiological occurrence, however the vast majority of cases remain to be genetically studied. The present study describes two cases of severe acute hepatitis E that required hospitalization for 6 and 9 days in two individuals of Indian nationality that had recently migrated to Portugal to work. The retrieved HEV sequences both belonged to genotype 1 and had a high degree of nucleotide sequence identity, clustering with strains isolated in India and Nepal, in 2013 and 2014. Confirmed HEV genotypes of increased pathogenicity like genotype 1 are being introduced into otherwise naïve populations of industrialized countries such as European countries with consequences difficult to predict. As far as we know the present study is the first in Portugal to describe and genetically characterize imported cases of hepatitis E infection caused by HEV genotype 1.


Subject(s)
DNA, Viral/genetics , Hepatitis E virus/genetics , Hepatitis E/virology , Adult , Emigrants and Immigrants , Emigration and Immigration , Genotype , Hepatitis E/diagnosis , Hepatitis E/therapy , Hepatitis E virus/pathogenicity , Humans , India , Male , Middle Aged , Portugal , Severity of Illness Index , Treatment Outcome
2.
Eur J Public Health ; 28(4): 720-724, 2018 08 01.
Article in English | MEDLINE | ID: mdl-29237007

ABSTRACT

Background: Evidence has shown that Hepatitis E virus (HEV) genotype 3 is autochthonous in industrialized countries due to zoonotic transmission through direct contact or consumption of raw or undercooked meat from domestic swine or wild boar. As there is lack of data on seroprevalence of HEV in the general Portuguese population, a wide survey was conducted as part of the HEPeCONTROL project (60DT2), under EEA grants funding. Methods: Sera from a representative sample of the Portuguese population (n = 1656) at different geographic locations (30 territorial units), and age (0-99 years) were collected between July 2015 and February 2016. The sera were tested for the presence of anti-HEV IgG and IgM by EIA using one of the two most commonly used commercial immunoassays in Europe. Results: The overall HEV IgG seroprevalence was found to be 16.3% increasing with age (P < 0.05) from 0.6% in the 0-9 years group to 30.1% in people older than 70 years. The seroprevalence also varied geographically with generally higher seropositivities (25-30%) in the most rural areas of Portugal. However, the geographical differences were not statistically significant (P > 0.05). Out of 1656 samples, 8 were positive for anti-HEV IgM indicating current of recent HEV infection but no significant differences were found concerning age groups, regions and sex. Conclusions: The present nation-wide survey provides insight in the epidemiology of HEV in Portugal and confirms that HEV is endemic in the Portuguese population.


Subject(s)
Biomarkers/blood , Hepatitis Antibodies/blood , Hepatitis E virus/isolation & purification , Hepatitis E/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Population Surveillance , Portugal/epidemiology , Seroepidemiologic Studies , Young Adult
3.
Clinics ; 72(12): 723-728, Dec. 2017. tab, graf
Article in English | LILACS | ID: biblio-890695

ABSTRACT

OBJECTIVES: To determine the possible association of serum 25-hydroxyvitamin D (25OHD) levels with disease activity and respiratory infection in granulomatosis with polyangiitis patients during two different periods: winter/spring and summer/autumn. METHODS: Thirty-two granulomatosis with polyangiitis patients were evaluated in the winter/spring, and the same patients (except 5) were evaluated in summer/autumn (n=27). The 25OHD levels were measured by radioimmunoassay. Disease activity was assessed by the Birmingham Vasculitis Activity Score Modified for Wegener's Granulomatosis (BVAS/WG) and antineutrophil cytoplasmic antibody (ANCA) positivity. Respiratory infection was defined according the Centers for Disease Control and Prevention criteria. RESULTS: 25OHD levels were lower among patients in winter/spring than in summer/autumn (32.31±13.10 vs. 38.98±10.97 ng/mL, p=0.04). Seven patients met the criteria for respiratory infection: 5 in winter/spring and 2 in summer/autumn. Patients with respiratory infection presented lower 25OHD levels than those without infection (25.15±11.70 vs. 36.73±12.08 ng/mL, p=0.02). A higher frequency of low vitamin D levels (25OHD<20 ng/mL) was observed in patients with respiratory infection (37.5% vs. 7.8, p=0.04). Serum 25OHD levels were comparable between patients with (BVAS/WG≥1 plus positive ANCA) and without disease activity (BVAS/WG=0 plus negative ANCA) (35.40±11.48 vs. 35.34±13.13 ng/mL, p=0.98). CONCLUSIONS: Lower 25OHD levels were associated with respiratory infection but not disease activity in granulomatosis with polyangiitis patients. Our data suggest that hypovitaminosis D could be an important risk factor for respiratory infection in granulomatosis with polyangiitis patients.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Respiratory Tract Infections/blood , Seasons , Vitamin D/analogs & derivatives , Granulomatosis with Polyangiitis/blood , Respiratory Tract Infections/diagnosis , Respiratory Tract Infections/etiology , Vitamin D/blood , Prednisone/therapeutic use , Biomarkers/blood , Granulomatosis with Polyangiitis/complications , Granulomatosis with Polyangiitis/drug therapy , Rituximab/therapeutic use , Immunosuppressive Agents/therapeutic use
4.
Clinics (Sao Paulo) ; 72(12): 723-728, 2017 12.
Article in English | MEDLINE | ID: mdl-29319717

ABSTRACT

OBJECTIVES: To determine the possible association of serum 25-hydroxyvitamin D (25OHD) levels with disease activity and respiratory infection in granulomatosis with polyangiitis patients during two different periods: winter/spring and summer/autumn. METHODS: Thirty-two granulomatosis with polyangiitis patients were evaluated in the winter/spring, and the same patients (except 5) were evaluated in summer/autumn (n=27). The 25OHD levels were measured by radioimmunoassay. Disease activity was assessed by the Birmingham Vasculitis Activity Score Modified for Wegener's Granulomatosis (BVAS/WG) and antineutrophil cytoplasmic antibody (ANCA) positivity. Respiratory infection was defined according the Centers for Disease Control and Prevention criteria. RESULTS: 25OHD levels were lower among patients in winter/spring than in summer/autumn (32.31±13.10 vs. 38.98±10.97 ng/mL, p=0.04). Seven patients met the criteria for respiratory infection: 5 in winter/spring and 2 in summer/autumn. Patients with respiratory infection presented lower 25OHD levels than those without infection (25.15±11.70 vs. 36.73±12.08 ng/mL, p=0.02). A higher frequency of low vitamin D levels (25OHD<20 ng/mL) was observed in patients with respiratory infection (37.5% vs. 7.8, p=0.04). Serum 25OHD levels were comparable between patients with (BVAS/WG≥1 plus positive ANCA) and without disease activity (BVAS/WG=0 plus negative ANCA) (35.40±11.48 vs. 35.34±13.13 ng/mL, p=0.98). CONCLUSIONS: Lower 25OHD levels were associated with respiratory infection but not disease activity in granulomatosis with polyangiitis patients. Our data suggest that hypovitaminosis D could be an important risk factor for respiratory infection in granulomatosis with polyangiitis patients.


Subject(s)
Granulomatosis with Polyangiitis/blood , Respiratory Tract Infections/blood , Seasons , Vitamin D/analogs & derivatives , Adult , Biomarkers/blood , Female , Granulomatosis with Polyangiitis/complications , Granulomatosis with Polyangiitis/drug therapy , Humans , Immunosuppressive Agents/therapeutic use , Male , Middle Aged , Prednisone/therapeutic use , Respiratory Tract Infections/diagnosis , Respiratory Tract Infections/etiology , Rituximab/therapeutic use , Vitamin D/blood
5.
Rheumatology (Oxford) ; 55(12): 2200-2211, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27651527

ABSTRACT

OBJECTIVES: To evaluate volumetric BMD (vBMD), microarchitecture and strength and vertebral fractures (VFs) in primary SS (pSS). METHODS: We evaluated 71 female pSS patients and 71 gender-, age-, and race-matched controls. Clinical data including risk factors for osteoporosis (OP) and fractures were collected through a standardized protocol. Areal BMD and VFs were analysed by DXA. Bone microarchitecture, vBMD and bone strength were assessed by high-resolution peripheral quantitative CT (HR-pQCT), a non-invasive method. RESULTS: pSS patients and controls were comparable for age, BMI, calcium intake, smoking, menopause, sedentary lifestyle and family history of fractures (P > 0.05). OP or low BMD for the patient's age (33.8 vs 5.6%; P < 0.0001) and VFs (19.7 vs 5.6%; P = 0.043) were more frequent in patients than controls. HR-pQCT showed deterioration of cortical and trabecular components and strength at the radius, and of cortical components and strength at the tibia (P < 0.05) in patients compared with controls. pSS patients and controls were also analysed by multivariate analysis adjusted for age, ethnicity, prednisone use, weight and height, which showed that the pSS group had lower values of cortical vBMD, cortical thickness and apparent modulus (P < 0.05) at the radius and cortical vBMD and apparent modulus (P < 0.05) at the tibia. Patients with VFs had more cortical bone deterioration (cortical vBMD/cortical thickness) at the tibia compared with patients without VFs (P < 0.05). CONCLUSIONS: This study was the first to assess bone microarchitecture in pSS and demonstrated that cortical deterioration is the most important abnormality observed in pSS patients with VFs. This novel finding shows that this compartment contributes to vertebral fragility, suggesting that this non-invasive evaluation may be useful in the clinical practice.


Subject(s)
Bone Density/physiology , Osteoporotic Fractures/diagnostic imaging , Sjogren's Syndrome/complications , Spinal Fractures/diagnostic imaging , Absorptiometry, Photon , Adolescent , Adult , Aged , Case-Control Studies , Cortical Bone/diagnostic imaging , Female , Humans , Middle Aged , Osteoporosis/complications , Osteoporosis/diagnostic imaging , Osteoporosis/physiopathology , Osteoporotic Fractures/complications , Osteoporotic Fractures/physiopathology , Sjogren's Syndrome/physiopathology , Spinal Fractures/complications , Spinal Fractures/physiopathology , Tomography, X-Ray Computed , Young Adult
6.
J Bone Miner Res ; 31(6): 1146-57, 2016 06.
Article in English | MEDLINE | ID: mdl-26814375

ABSTRACT

Previous studies have shown a relationship between osteoporosis and increased mortality risk. However, none of these studies performed a concomitant evaluation of the parathyroid hormone (PTH)-calcium-vitamin D axis and bone mass to accurately determine the contribution of each of these parameters to survival in older subjects. Thus, we sought to investigate the association between bone parameters and mortality in a longitudinal, prospective, population-based cohort of 839 elderly subjects. Clinical data (including history of fractures and cardiovascular events) were assessed using a specific questionnaire. Laboratory exams, including serum 25OHD and PTH, were also performed. Bone mineral density (BMD) at the lumbar spine and hip were evaluated using DXA. All analyses were performed at baseline (2005 to 2007). Mortality was recorded during follow-up. Multivariate Cox proportional regression was used to compute hazard ratios for all-cause and cardiovascular mortality. Over a mean 4.06 ± 1.07 years, there were 132 (15.7%) deaths. These individuals were compared to 707 subjects who were alive at the end of the coverage period for mortality data collection. In a multivariate Cox proportional hazards model, age (HR 1.32; 95% CI, 1.13 to 1.55; p = 0.001, for each 5-year increase), male gender (HR 1.90; 95% CI, 1.30 to 2.79; p = 0.001), recurrent falls (more than two in the previous year; HR 1.65; 95% CI, 1.06 to 2.56; p = 0.026), diabetes mellitus (HR 2.17; 95% CI, 1.46 to 3.21; p < 0.001), low physical activity score (HR 1.78; 95% CI, 1.14 to 2.79; p = 0.011), prior cardiovascular event (HR 1.76; 95% CI, 1.18 to 2.63; p = 0.006), total hip BMD (HR 1.41; 95% CI, 1.15 to 1.72; p = 0.001, per each 1 SD decrease), and intact PTH (iPTH) (HR 1.06; 95% CI, 1.04 to 1.08; p < 0.001, per each 10 pg/mL increase) were independently associated with all-cause mortality. The subjects in the highest quartile of PTH (>49 pg/mL) were at a higher risk of cardiovascular death (HR 3.09; 95% CI, 1.36 to 6.99; p = 0.007) compared with the subjects in the lowest quartile (<26 pg/mL). Low BMD and higher PTH were significantly associated with mortality in community-dwelling older adults. These findings support the notion that careful screening of these bone parameters might lead to better management of older patients and improve outcomes in this population. © 2016 American Society for Bone and Mineral Research.


Subject(s)
Bone Density , Mortality , Parathyroid Hormone/blood , Accidental Falls/mortality , Aged , Aged, 80 and over , Brazil/epidemiology , Cardiovascular Diseases/blood , Cardiovascular Diseases/mortality , Female , Follow-Up Studies , Humans , Male , Vitamin D/blood
7.
Echocardiography ; 32(8): 1277-84, 2015 Aug.
Article in English | MEDLINE | ID: mdl-25412756

ABSTRACT

OBJECTIVE: Polycystic ovary syndrome (PCOS) is associated with increased risk for cardiovascular disease. We sought to evaluate the effects of insulin resistance (IR) on myocardial microcirculation and peripheral artery function in patients with PCOS. METHODS: We studied 55 women (28 with PCOS without IR, 18 with PCOS and IR and 11 normal controls) who underwent laboratorial analysis, high-resolution vascular ultrasound and real time myocardial contrast echocardiography (RTMCE). Intima-media thickness (IMT) and brachial artery flow-mediated dilation (FMD) were evaluated by vascular ultrasound. The replenishment velocity (ß), plateau of acoustic intensity (A) and myocardial blood flow reserve (MBFR) were determined by quantitative dipyridamole stress RTMCE. RESULTS: ß reserve in group PCOS + IR was lower than control (2.34 ± 0.55 vs. 3.60 ± 0.6; P < 0.001) and than PCOS without IR (2.34 ± 0.55 vs. 3.17 ± 0.65; P < 0.001). MBFR in patients with PCOS without IR did not differ from those of control (4.59 ± 1.59 vs. 5.30 ± 1.64; P = 0.22) or from patients with PCOS + IR (4.59 ± 1.59 vs. 3.70 ± 1.47; P = 0.07). When comparing with control group, patients with PCOS + IR had lower MBFR (5.30 ± 1.64 vs. 3.70 ± 1.47; P = 0.01). No significant differences were found between control, PCOS without IR and PCOS + IR for FMD (0.18 ± 0.05, 0.15 ± 0.04 and 0.13 ± 0.07; P =NS) or IMT (0.48 ± 0.05, 0.47 ± 0.05 and 0.49 ± 0.07; P = NS). CONCLUSION: Women with PCOS and IR had depressed ß and MBFR as demonstrated by quantitative RTMCE, but no alteration in endothelial dysfunction or IMT. PCOS without IR showed isolated depression in ß reserve, probably an earlier marker of myocardial flow abnormality.


Subject(s)
Brachial Artery/physiopathology , Coronary Artery Disease/physiopathology , Coronary Circulation , Insulin Resistance , Polycystic Ovary Syndrome/physiopathology , Adult , Blood Flow Velocity , Brachial Artery/diagnostic imaging , Coronary Artery Disease/diagnostic imaging , Female , Humans , Polycystic Ovary Syndrome/diagnostic imaging , Reproducibility of Results , Sensitivity and Specificity , Ultrasonography
8.
Eur J Obstet Gynecol Reprod Biol ; 170(1): 152-6, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23773528

ABSTRACT

OBJECTIVE: Functional polyps and chronic endometritis are among the most common abnormalities seen in the endometrium of patients with implantation failures and recurrent miscarriages. In this study we describe morphological vascular changes in endometrial samples from asymptomatic infertile patients and their association with chronic endometritis and polyp. STUDY DESIGN: We selected 435 asymptomatic infertility patients submitted to office-based diagnostic hysteroscopy and endometrial biopsy. We described vascular changes and searched for histologic signs of endometritis and functional polyps in the endometrial samples. We explored the associations between these conditions. RESULTS: Signs of endometritis, vascular changes and polyps were identified in 176 (40.5%), 168 (38.6%) and 102 (23.4%) cases, respectively. There was a significant association between endometritis and vascular changes. The more frequent vascular alteration (70%) was the hyaline thickening of vessels, a morphological pattern very similar to the thick-walled vessels of polyps. Polyps were associated with endometritis in 28 (27.4%) cases and with other vascular changes besides the vascular stalk in 14 (13.7%). All the polyps with vascular changes had histologic evidence of endometritis. There was a significant association between inflammatory phenomena and vascular changes, even among cases of polyps. CONCLUSIONS: Endometrial samples from infertile patients present a broad spectrum of vascular changes, most of them associated with endometritis. This association is also identified in functional polyps. Our results suggest that these alterations may be etiologically related. It is possible that the vessel axis of functional polyps actually may originate from the evolution of the vascular changes associated with endometritis. This would place functional polyps among the spectrum of inflammatory endometrial diseases.


Subject(s)
Endometritis/complications , Endometrium/pathology , Infertility, Female/etiology , Neovascularization, Pathologic , Polyps/complications , Adult , Endometritis/pathology , Endometrium/blood supply , Female , Humans , Infertility, Female/pathology , Middle Aged , Polyps/pathology , Young Adult
9.
Arthritis Res Ther ; 14(5): R216, 2012 Oct 12.
Article in English | MEDLINE | ID: mdl-23062122

ABSTRACT

INTRODUCTION: Sclerostin levels have been reported to be low in ankylosing spondylitis (AS), but there is no data regarding the possible role of this Wnt inhibitor during anti-tumor necrosis factor (TNF) therapy. The present study longitudinally evaluated sclerostin levels, inflammatory markers and bone mineral density (BMD) in AS patients under anti-TNF therapy. METHODS: Thirty active AS patients were assessed at baseline, 6 and 12 months after anti-TNF therapy regarding clinical parameters, inflammatory markers, BMD and baseline radiographic damage (mSASSS). Thirty age- and sex-matched healthy individuals comprised the control group. Patients' sclerostin levels, sclerostin binding low-density lipoprotein receptor-related protein 6 (LRP6) and BMD were evaluated at the same time points and compared to controls. RESULTS: At baseline, AS patients had lower sclerostin levels (60.5 ± 32.7 vs. 96.7 ± 52.9 pmol/L, P = 0.002) and comparable sclerostin binding to LRP6 (P = 0.387) than controls. Improvement of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Functional Index (BASFI), Bath Ankylosing Spondylitis Metrology Index (BASMI), Ankylosing Spondylitis quality of life (ASQoL) was observed at baseline vs. 6 vs. 12 months (P < 0.01). Concomitantly, a gradual increase in spine BMD (P < 0.001) and a positive correlation between baseline mSASSS and spine BMD was found (r = 0.468, P < 0.01). Inflammatory parameters reduction was observed comparing baseline vs. 6 vs. 12 months (P <0.01). Sclerostin levels progressively increased [baseline (60.5 ± 32.7) vs. 6 months (67.1 ± 31.9) vs. 12 months (72.7 ± 32.3) pmol/L, P <0.001]. At 12 months, the sclerostin levels remained significantly lower in patients compared to controls (72.7 ± 32.3 vs. 96.70 ± 52.85 pmol/L, P = 0.038). Moreover, sclerostin serum levels at 12 months were lower in the 10 patients with high C reactive protein (CRP) (≥ 5 mg/l) compared to the other 20 patients with normal CRP (P = 0.004). Of note, these 10 patients with persistent inflammation also had lower sclerostin serum levels at baseline compared to the other patients (P = 0.023). Univariate logistic regression analysis demonstrated that AS patients with lower sclerostin serum levels had an increased risk to have high CRP at 12 months (odds ratio = 7.43, 95% CI 1.23 to 45.01, P = 0.020) than those with higher sclerostin values. CONCLUSIONS: Persistent low sclerostin levels may underlie continuous inflammation in AS patients under anti-TNF therapy.


Subject(s)
Antirheumatic Agents/therapeutic use , Bone Morphogenetic Proteins/blood , Inflammation/drug therapy , Spondylitis, Ankylosing/drug therapy , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Adaptor Proteins, Signal Transducing , Adult , Biomarkers/blood , Bone Density/physiology , Case-Control Studies , Female , Genetic Markers , Humans , Inflammation/blood , Inflammation/physiopathology , Logistic Models , Longitudinal Studies , Low Density Lipoprotein Receptor-Related Protein-6/blood , Male , Middle Aged , Spondylitis, Ankylosing/blood , Spondylitis, Ankylosing/physiopathology , Time Factors , Treatment Outcome
10.
Clin Dev Immunol ; 2012: 232390, 2012.
Article in English | MEDLINE | ID: mdl-22654952

ABSTRACT

OBJECTIVES: The aim of this study was to investigate the HLA-G serum levels in Primary Antiphospholipid Syndrome (PAPS) patients, its impact on clinical and laboratory findings, and heparin treatment. METHODS: Forty-four PAPS patients were age and gender matched with 43 controls. HLA-G serum levels were measured using an enzyme-linked immunosorbent assay (ELISA). RESULTS: An increase in soluble HLA-G levels was found in patients compared to controls (3.35 (0-22.9) versus 1.1 (0-14), P = 0.017). There were no significant differences in HLA-G levels between patients with and without obstetric events, arterial thrombosis, venous thrombosis, or stroke. Sixty-six percent of patients were being treated with heparin. Interestingly, patients treated with heparin had higher HLA-G levels than ones who were not treated with this medication (5 (0-22.9) versus 1.8 (0-16) ng/mL, P = 0.038). Furthermore, patients on heparin who experienced obstetric events had a trend to increased HLA-G levels compared to patients who were not on heparin and did not have obstetric events (5.8 (0-22.9) versus 2 (0-15.2) ng/mL, P = 0.05). CONCLUSION: This is the first study to demonstrate that serum HLA-G levels are increased in APS patients. We also demonstrated that heparin increases HLA-G levels and may increase tolerance towards autoantigens.


Subject(s)
Antiphospholipid Syndrome/diagnosis , Antiphospholipid Syndrome/immunology , HLA-G Antigens/biosynthesis , Adult , Antiphospholipid Syndrome/drug therapy , Enzyme-Linked Immunosorbent Assay , Female , Gene Expression Regulation/drug effects , Gene Expression Regulation/immunology , HLA-G Antigens/blood , HLA-G Antigens/genetics , Heparin/therapeutic use , Humans , Male , Middle Aged
11.
Femina ; 39(2): 91-96, fev. 2011. ilus
Article in Portuguese | LILACS | ID: lil-604881

ABSTRACT

A infertilidade pode ser definida como a incapacidade de se conseguir uma gravidez dentro de um determinado período ou a falha repetida em levar uma gravidez a termo. Os fatores mais comuns associados com o abortamento habitual são de ordem genética, hormonal ou anatômica. O aumento da heterocromatina encontrado nos cromossomos humanos autossomos 1, 9, 16 e no cromossomo sexual Y tem sido comumente definido como sendo uma variação da normalidade. Todavia, têm-se alguns relatos da frequência aumentada dessas alterações em pais de crianças com anomalias cromossômicas, casais com abortos recorrentes e em conceptos cromossomicamente anormais. Sabe-se que os genes responsáveis pela fertilidade e viabilidade são encontrados presentes na heterocromatina, sugerindo que tais variantes não podem ser ignoradas.(AU)


Infertility can be defined as the inability to achieve pregnancy within certain time frame, or the repetitive failure to carry pregnancy through completion. The most common factors associated with habitual abortion have a genetic, hormonal, or anatomical cause. The increase found in heterochromatin at chromosomes 1, 9 and 16 as well as in the sex chromosome Y has been implicated as a variation of normality. However, some reports have highlighted cases of children having chromosomal abnormalities from parents carrying a higher alteration frequency, cases of repetitive abortions, and also some chromosomal abnormal conceptions. It is known that genes for fertility and viability are now thought to reside in heterochromatin, which suggests that variants should not be ignored.(AU)


Subject(s)
Humans , Female , Pregnancy , Heterochromatin/genetics , Chromosomes , Abortion , Infertility, Female , Review Literature as Topic , Databases, Bibliographic , Cytogenetics
12.
J Autoimmun ; 33(2): 121-4, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19419839

ABSTRACT

The aim of this study was to evaluate the frequency of thyroid dysfunction and thyroid antibodies in patients with juvenile onset Systemic Lupus Erythematosus (JOSLE) and its association with clinical and immunological features. Seventy-seven patients with JOSLE, 64 females, median age 19 years, were consecutively enrolled from March to December 2007. Clinical data related to thyroid dysfunction and lupus were obtained by chart review and patient interview. Serum levels of TSH, free T4, anti-thyroglobulin (TgAb), anti-thyroperoxidase (TPOAb), TRAb and lupus related autoantibodies were analyzed by standard techniques. Nine patients were diagnosed as hypothyroidism and 4 hyperthyroidism. 28% JOSLE patients had moderate/high titer of thyroid antibodies: 23% TgAb, 2.6% TPOAb and 3.9% TRAb. JOSLE patients with positive thyroid autoantibodies had higher frequency of anti-U1RNP antibodies than patients without these antibodies (40.9 vs. 14.5%, OR:0.25, CI:0.08-0.76, p = 0.017). Furthermore, renal/neurological/hematological involvement was less frequently observed in patients with hypothyroidism (55.6 vs. 87.5%, OR:0.18, CI:0.04-0.81, p = 0.035) and with thyroid antibodies (68.4 vs. 90.9%, OR:0.22, CI:0.06-0.82, p = 0.027) than in patients without these alterations. No association with PTPN22 polymorphism was found. In conclusion, JOSLE patients have high prevalence of subclinical hypothyroidism. The novel association of anti-thyroid antibodies with anti-U1RNP antibodies in JOSLE seems to identify a subgroup of patients with less life-threatening organ involvement.


Subject(s)
Autoantibodies/blood , Lupus Erythematosus, Systemic/complications , Thyroid Diseases/immunology , Adolescent , Adult , Autoantigens/immunology , Child , Female , Genotype , Humans , Iodide Peroxidase/immunology , Iron-Binding Proteins/immunology , Lupus Erythematosus, Systemic/genetics , Male , Polymorphism, Single Nucleotide/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22/immunology , Protein Tyrosine Phosphatase, Non-Receptor Type 22/metabolism , Receptors, Thyrotropin/immunology , Ribonucleoprotein, U1 Small Nuclear/blood , Thyroid Diseases/genetics , Thyrotropin/blood , Thyroxine/blood , Young Adult
13.
Fertil Steril ; 91(2): 320-4, 2009 Feb.
Article in English | MEDLINE | ID: mdl-18295214

ABSTRACT

OBJECTIVE: To evaluate interleukin (IL)-12 and IL-18 levels in the serum and peritoneal fluid of women with and without endometriosis. DESIGN: Cross-sectional survey. SETTING: University hospital. PATIENTS: Interleukin-12 and IL-18 levels were compared in 105 patients submitted to laparoscopy because of symptoms suggestive of endometriosis (pain and/or infertility). The disease was confirmed in 72 patients (study group), while in 33 patients findings were not compatible with endometriosis (control group). INTEVENTION(S): Blood sample and peritoneal fluid were obtained from patients during videolaparoscopy. MAIN OUTCOME MEASURE(S): The levels of IL-12 and IL-18 in peripheral blood and peritoneal fluid were determined and compared with the stage and site of the disease and histologic classification. RESULT(S): IL-12 levels measured in peritoneal fluid were higher in patients with endometriosis compared with the control group. A significant increase in IL-12 levels was found when the more advanced stages of the disease were compared with the initial stages. No statistically significant differences were found in IL-18 levels, either in serum or in peritoneal fluid samples. CONCLUSION(S): Patients with severe endometriosis have higher IL-12 levels irrespective of IL-18 levels, suggesting that in this disease an alternative pathway is involved in induction of the Th1 immune response.


Subject(s)
Ascitic Fluid/immunology , Endometriosis/immunology , Interleukin-12/analysis , Interleukin-18/analysis , Adolescent , Adult , Biomarkers/analysis , Case-Control Studies , Cross-Sectional Studies , Endometriosis/pathology , Female , Humans , Interleukin-12/blood , Interleukin-18/blood , Laparoscopy , Pilot Projects , Severity of Illness Index , Up-Regulation , Video-Assisted Surgery , Young Adult
14.
Reprod. clim ; 22: 74-78, 2007. ilus, graf
Article in Portuguese | LILACS | ID: lil-490309

ABSTRACT

Objetivo: avaliar homens de casais com infertilidade sem causa conhecida quanto à presença de danos no DNA espermático utilizando o Teste da Estrutura da Cromatina Espermática. Material e Métodos: foram analisadas 57 amostras do sêmen ejaculado quantificando-se IFD (índice de fragmentação do DNA) e CDE (coloração do DNA elevada). Resultados: levando-se em conta os valores de corte de 30% para IFD e 15% para CDE, 37% dos homens analisados têm danos no DNA espermático. Observando-se apenas o IFD maior que 30%, 19% dos homens são afetados, enquanto 14% são afetados observando-se apenas CDE maior que 15% e 4% apresentam os dois índices alterados. Conclusão: de acordo com os resultados obtidos, análise seminal convencional sem o complemento do teste da estrutura da cromatina espermática tem sua utilidade limitada.


Subject(s)
Humans , Male , Chromatin , DNA Fragmentation , Infertility, Male , Sperm Capacitation , Semen
17.
Rev. bras. reumatol ; 38(4): 215-20, jul.-ago. 1998. tab, graf
Article in Portuguese | LILACS | ID: lil-296527

ABSTRACT

Os autores mostram a frequência de alguns marcadores tumorais em pacientes com lúpus eritematoso sistêmico (LES) e esclerose sistêmica (ES). Foram estudados dez pacientes do sexo feminino com LES com média de idade de 31 anos e dez pacientes (oito mulheres) com ES cuja média de idade era de 54 anos. Efetuou-se a dosagem quantitativa de oito marcadores tumorais (antígeno carcinoembriônico, alfafetoproteína, gonadotrofina coriônica, CA 15-3, CA 19-9, CA 72-4, CA 125 e enolase específica de neurônio) utilizando-se ensaio de quimiluminescência em fase sólida com dois anticorpos (mono e policlonal). Observou-se que quatro pacientes com LES (40 por cento) apresentavam níveis séricos elevados de algum marcador tumoral; dois destes tinham mais do que um marcador em níveis elevados (CA 19-9 e CA 125. Nenhum dos marcadores pesquisados se destacou individualmente nos pacientes com LES. Cinco pacientes com ES (50 por cento) tinham níveis elevados de enolase específica de neurônio (NSE) e os demais marcadores tumorais apresentaram-se em níveis séricos dentro da normalidade. Comparando-se a dosagem de cada marcador tumoral nos pacientes com LES e ES, encontraram-se níveis séricos de NSE significantemente maiores nos pacientes com ES (P<0,05). Em síntese. encontrou-se frequência significativamente alta de valores anormais de marcadores tumorais no LES e ES, chamando a atenção os níveis séricos de NSE em alguns pacientes na faixa dos observados em neoplasias. O acompanhamento prospectivo desses pacientes e a ampliação do âmbito deste estudo são desejáveis para o entendimento do significado clínico e biológico desses achados.


Subject(s)
Humans , Female , Adolescent , Adult , Middle Aged , Lupus Erythematosus, Systemic , Biomarkers, Tumor , Phosphopyruvate Hydratase , Scleroderma, Systemic , Carcinoembryonic Antigen , Chorionic Gonadotropin
18.
Arq. neuropsiquiatr ; 56(2): 188-92, jun. 1998. tab
Article in English | LILACS | ID: lil-212808

ABSTRACT

In this retrospective study, 47 patients with clinical diagnosis of central nervous system metastases of breast cancer were evaluated by computerized tomography (CT), magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) examination. The patients were divided in 2 groups: 1, without leptomeningeal neoplasm and 2, with leptomeningeal neoplasm. In the group 2, the time interval between the primary disease and the central nervous system metastasis as well as the survival time were shorter than in group 1 (40 and 4.3 months in group 2 versus 57 and 10 months respectively, in group 1). In both groups the most common neurological symptons and signs were intracranial hypertension and motor deficits. The most sensitive diagnostic methods were CT and MRI in group 1, and the CSF examination in group 2. The use of the tumor markers CEA and CA-15.3 in the routine examination of CSF showed promissing results, mainly in leptomeningeal forms.


Subject(s)
Humans , Adult , Middle Aged , Breast Neoplasms/pathology , Central Nervous System Neoplasms/secondary , Arachnoid Cysts/diagnosis , Biomarkers, Tumor/cerebrospinal fluid , Central Nervous System Neoplasms/cerebrospinal fluid , Central Nervous System Neoplasms/diagnosis , Meningeal Neoplasms/diagnosis , Retrospective Studies
19.
Rev. bras. reumatol ; 30(3): 82-4, maio-jun. 1990. graf
Article in Portuguese | LILACS | ID: lil-129270

ABSTRACT

Os autores estudaram os anticorpos anticardiolipina (aCL) em pacientes com vasculites. Esses anticorpos foram detectados em seis de 15 pacientes com vasculite reumatóide, três de 29 com poliarterite nodosa, dois de nove com síndrome de Behcet, dois de quatro com arterite de células gigantes, um de seis com vasculite de Churg-Strauss e nenhum dos pacientes com granulomatose de Wegener ou púrpura de Henoch-Schönlein. Os autores discutem os possíveis mecanismos patogênicos desses anticorpos


Subject(s)
Humans , Antibodies, Anticardiolipin/analysis , Vasculitis/immunology
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