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ABSTRACT Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil. Methods: This is a retrospective study using medical charts involving Down syndrome patients, diagnosed by karyotype, aged over 5 years, who underwent abdominal ultrasound and were monitored by the same professional in a clinic in Curitiba, Brazil. Data spanned January 1995 to September 2023; all cases with no use of alcohol or hepatotoxic medications. Results: A total of 124 patients were evaluated, 64 (51.6%) being females. Ages varied between 5 and 30 years (average of 13.2±5.7 years). Body mass index ranged from 14.08 to 44.98 kg/m2, with 27 (21.7%) patients being overweight and 42 (33.8%) obese. The frequency of increased total cholesterol and triglyceride concentrations was significantly higher in children. No age or sex differences were seen in low- and high-density lipoprotein cholesterol. Alanine transferase (ALT) and aspartate transferase (AST) levels were within normal ranges and showed no differences concerning sex or age. Four patients (3.2%) had diagnosis of MAFLD. The prevalence of gallstone varied widely in terms of the number and size of stones among patients, affecting 11 (8.9%) of them, with no significant difference in age or sex. Conclusions: MAFLD was found in 3.2% of the individuals, while gallstone disease was identified in 8.9% of the cases studied. Moreover, we noted a significant presence of risk factors associated with MAFLD, with dyslipidemia being the predominant factor.

Introduction: Cyberchondria is a newly described entity in which patients recurrently search health information on the internet developing distress and suffering with the obtained information. Objective: To study cyberchondria in a sample of the Brazilian population: its association with epidemiological variables and interference with quality of life. Methods: This is a cross-sectional observational study, with 948 participants. Three questionnaires were applied through the internet: one epidemiological; the Cyberchondria Severity Scale (CSS) questionnaire and the SF-12 (12-Item Short-Form Health Survey) quality of life (QoL) questionnaire. Results: CSS was weakly and negatively correlated with the age of participants in the subscale “compulsion” (r=-0.08, p=0.01) and “distress” (r=-0.12, p

Introduction: COVID-19 infection may cause erectile dysfunction due to local viral infection and impairing mental health. Objective: To analyze the erectile function in Brazilian sample patients during pandemics with and without COVID-19 infection and compare with results from a sample obtained before the pandemic. Methods: Internet survey with epidemiologic questions, data on COVID-19 infection, and the International Index for Erectile Function (IIEF). Patients were divided into those with and without infections. A control group with results obtained before the pandemic was also included. Results: Four hundred twenty-two males were studied 210 with data obtained before the pandemic; 208 with data obtained during the pandemic (84 with COVID-19 infection and 124 without). Patients with COVID-19 infection had worse results of IIEF than those without (in the pandemics and before pandemics) with p=0.01 and used more sexual stimulants (p=0.02). The results were worse in the first month after the infection. Conclusion: Patients with COVID-19 infection had impairment in erectile function that is more severe in the first month after infection.

ABSTRACT Objective: To describe cases of acute kidney injury (AKI) in children diagnosed with COVID-19, associated risk factors, clinical aspects and outcome of cases. Methods: Retrospective study, carried out in a pediatric hospital between March 2020 and September 2021, with patients with COVID-19 who were diagnosed with AKI, studying information present in medical records such as comorbidities, age, gender and use of nephrotoxic medications. Results: We studied 40 cases, and male individuals were significantly more affected (62.5%; p=0.025). AKI was a severe complication of COVID-19 infection, with 100% of the sample requiring admission to the Intensive Care Unit and 22.5% dying. The most prevalent comorbidities analyzed in this study were epilepsy, cerebral palsy and heart disease. Most patients were classified according to Kidney Disease: Improving Global Outcomes (KDIGO) criteria as KDIGO 1 (42.5%), and required orotracheal intubation (67.5%). The frequency of use of nephrotoxic medications and need for dialysis was low, with percentages of 35 and 17.5%, respectively. Among the children who died, 70.4% had some comorbidity and 88.8% received invasive ventilation. Conclusions: AKI in children with COVID-19 infection is associated with severe conditions. Despite the severity, most patients were discharged alive from the hospital.

Introduction: Palliative care (PC) improves the quality of life of patients and their families. The use of antimicrobials is controversial in PC patients, especially in those admitted to the intensive care unit (ICU). Objective: To evaluate the use of antimicrobials in PC patients admitted to the ICU. Methods: This is a retrospective study, performed from August 2019 to September 2020. Data on demographic profile, hospitalization, PC, and use of antimicrobials were collected from the Erasto Gaertner Hospital database, in Curitiba, Brazil. Results: 182 patients were studied, median age of 65 years and 52% men. The median length of stay in the ICU was 3 days; the median total length of stay in the hospital was 6 days and 89.5% of the patients died. The time in ICU of patients treated with antibiotics (14.8%) was significantly longer (p=0.033) than for patients who were not (85.2%). Using or not using antibiotics did not change the outcome. Among those who took antibiotics, death occurred in 81.5% of cases and among those who did not use, 74.8% died (p=0.627). Between the cases that used broad-spectrum antibiotics 17/19 (89.5%) died and the mean hospital stay was 16.2 days. Among cases that used narrow-spectrum 5/9 (62.5%) died and the mean hospital stay was 6.4 days (p=0.033). Conclusion: The administration and/or the spectrum of antibiotics in PC patients admitted to the ICU did not change the mortality rate. The administration of antibiotics increased the length of stay in the ICU.

BACKGROUND AND OBJECTIVES: The feet may be involved in patients with ankylosing spondylitis (AS), causing pain and walking difficulties. This research aimed to study the involvement of the foot in a sample of Brazilian patients with AS. METHODS: The Brazilian version of the Foot Function Index (FFI-BR) was applied to 103 individuals (57 AS patients and 46 controls). Clinical profiles were obtained in AS patients as well as the measurement of disease activity by the ASDAS (Ankylosing Spondylitis Disease Activity Score)-ESR (erythrocyte sedimentation rate), ASDAS-CRP (C reactive protein) and BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) and function by BASFI (Bath Ankylosing spondylitis functional score). RESULTS: Only 19.2% of AS patients did not have any foot complaints and the FFI-BR score presented worse results than the control group (p = 0.02). The "pain" domain of FFI-BR scored highest in AS patients, followed by "disability". There was no association between the results of the FFI-BR and the clinical profile of patients with AS, but there was an association between the score and the disease activity indexes (r = 0.50, p = 0.003 with ASDAS-ESR; r = 0.44, p = 0.005 with ASDAS-CRP; and r = 0.60, p < 0.0001 with BASDAI). The BASFI also showed a positive correlation (r = 0.72; p < 0.0001). CONCLUSION: Pain and disability are common in AS patients and these symptoms are associated with disease activity.

ABSTRACT Background: Low bone mass density (BMD) is an extraintestinal finding in celiac disease (CD). This may result in bone fractures leading to loss in quality of life. Objective: To assess BMD in male CD patients at diagnosis according to the patient’s age. Methods: Descriptive retrospective carried out during the period between 2013 and 2023 in a single office that studied dual-energy X-ray absorptiometry (DXA) results in 28 male patients with a recent diagnosis of CD, divided into three groups: group 1 (age up to 18 years); group 2 (from 19 to 49 years of age) and group 3 (over 50 years of age). Were studied demographic and anthropometric parameters, time delay between symptoms onset and CD diagnosis and fracture occurrence. Results: Celiac patients studied had median age 36.0 years (IQR=16.5-50.7). Among them, 39.3% had osteopenia and 14.3% had osteoporosis. Only 36% of the sample had normal DXA values (group 1 with 37.5%; group 2 with 46% and group 3 with 14.2%). No pathological fracture was observed in this sample. CD diagnosis delay observed had median 1.0 year (IQR=1.0-4.7). When the number of individuals with normal and abnormal DXA results were compared, there was no difference in body mass index, time of diagnosis delay or Marsh classification (P=0.18). Conclusion: Male patients at the time of CD diagnosis showed a high prevalence of low BMD, which was particularly evident in individuals over 50 years of age.

Abstract Background Psoriasis is a protean disease associated with several comorbidities that may have increased levels of adiponectin such as resistin. This may affect the patients atherosclerotic risk. Objective To study resistin levels in a sample of Brazilian patients with psoriasis and its association with clinical profile, comorbidities, and carotid Intima-Media Thickness (cIMT). Methods This is a cross-sectional study of 119 individuals: 34 healthy controls and 85 patients with psoriasis, 42 of which with skin involvement only and 43 with psoriatic arthritis. Clinical and epidemiological data, measurement of PASI (Psoriasis Area Severity Index) and DAPSA (Disease Activity in Psoriatic Arthritis), lipid profile, cIMT by ultrasound were collected from medical records. Resistin serum levels were measured by ELISA. Results Patients with psoriasis had higher resistin levels (p = 0.009) and worse cIMT (p = 0.0002) than controls. In the psoriasis sample, no associations of resistin levels with epidemiological, clinical findings, and activity indexes were found. Resistin serum levels were associated with the presence of diabetes (p = 0.008) and metabolic syndrome (p = 0.01) and correlated with total cholesterol (r = 0.26) and triglycerides (r = 0.33) but not with cIMT. Study limitations This work is limited by its transversal design and by the limited number of patients included. Conclusion Resistin serum levels are elevated in psoriasis patients. In this sample, clinical, epidemiological, and activity indexes were not linked to resistin serum levels, but atherosclerotic risk factors were.

ABSTRACT Microscopic colitis is a chronic inflammatory bowel disease characterized by non-bloody diarrhea that can range from mild to severe. It is difficult to attribute up to 10-20% of chronic diarrhea to microscopic colitis. The three determinants factors of the diagnosis are characteristic clinical symptoms, normal endoscopic picture of the colon, and pathognomonic histological picture. This manuscript aimed to update considerations and recommendations for professionals involved (gastroenterologist, endoscopists and pathologist) in the diagnosis of MC. In addition, a short recommendation about treatment.

ABSTRACT Background: Microscopic colitis (MC) is a chronic inflammatory bowel disease causing non-bloody diarrhea, and several cases are undiagnosed as a hidden cause of chronic diarrhea. Objective: We aimed to report the symptoms, delay diagnosis and the treatment of MC in a case series. Methods: All patients were treated at a Gastroenterology reference office from May 2022 to June 2023. Personal history including preexisting disorders, use of medications and smoking habits were collected. The delay between the onset of symptoms and the correct diagnosis was informed. All patients consented to use budesonide MMX (Corament®) off label. Results: During the study period, six Caucasoid patients were diagnosed with MC, five females and one male, between the ages of 65 and 74. All patients had comorbities and were taking multiple prescription drugs. Laboratory findings showed negative serology for celiac disease for all patients, normal levels of albumin and vitamin B12. The delay between the symptoms and the MC diagnosis varied from 2 months to 6 years. All patients had a previous diagnosis of irritable bowel syndrome. All patients were in complete clinical remission during the treatment and referred no side effects of the drug. Conclusion: Older females using high-risk medications are suggestive of MC. Preventing delay in the diagnosis of MC is crucial to improvement in patients´ quality of life. Budesonide MMX appears to be effective, safe and well-tolerated.

Objetivos: estudiar los efectos secundarios y el riesgo de exacerbación de la enfermedad después de la vacunación COVID-19 en una muestra de pacientes con lupus eritematoso sistémico (LES). Materiales y métodos: este estudio retrospectivo que investigó 101 pacientes con LES. Se determinó la actividad de la enfermedad mediante el Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) antes y después de dos dosis de vacuna contra SAR-COv-2. Se registraron los efectos secundarios después de la vacunación. Resultados: los pacientes que recibieron dos dosis de la misma vacuna fueron el 10,3% para CoronaVAc, el 42,2% para Pfizer y el 47,3% para AstraZeneca. Se detectaron efectos secundarios en el 76,2% y la mayoría fue leve/moderado. Los más frecuentes fueron: dolor local (62,3%), cefalea (36,6%) y fatiga (34,6%). El cambio en la mediana del SLEDAI antes de la primera dosis y después de la segunda no fue estadísticamente significativa (p=0,68). Solo el 4,1% de los individuos aumentó el SLEDAI ≥ de 3 puntos. Conclusiones: la vacunación contra la COVID-19 fue bien tolerada y segura en pacientes con LES.

Introduction: Preoperative tests (EPO) aim to detect abnormalities and give greater safety to the procedure. However, the request for these tests is still controversial, either because they do not bring about changes in conduct for the procedure or result in some harm to the patient. The objective is to assess the frequency of EPO requests and abnormalities in aesthetic plastic surgery patients, to verify what these abnormalities are, what preoperative management should be done based on the finding, and to associate the data obtained with the patient’s profile and the planned surgery. Method: Retrospective study evaluating medical records of aesthetic plastic surgery patients who underwent routine EPO in a plastic surgery hospital in 2019. Results: 978 patients were studied, and 51% had some abnormality in EPO. 93.7% were women, with a mean age of 46.5 years. 12.3 exams were performed per patient, and abnormality was observed in 6.1% of EPO. The exams that had the most abnormalities were the lipidogram (23.8%) and the cardiac evaluation (14.1%). Hypothyroidism was the most common comorbidity (18.4% of patients); 70% of diabetics had a glycemic level above the recommended level. Only 3.4% of the patients suffered a change in preoperative management due to EPO abnormality, and in 57.9% of these cases, the surgery was postponed. Test alterations were more frequent in male patients (p

Background Patients with colorectal cancer may seek the emergency department for symptoms related to chemotherapy and radiotherapy side effects as well as those from the disease itself and from surgery complications. Objectives To establish the epidemiological and clinical profile of colorectal cancer patients that look for consultations in the emergency department. Methods Retrospective study of emergency room charts from colorectal cancer patients that consulted in a single oncological hospital for the period of 1 year. Results Four hundred and forty-six consultations were identified (49.5% males and 50.5% females) with a mean age of 63 years and with advanced disease (most with tumor, node, metastases [TNM] stages III and IV). The most common complaint was abdominal pain (27.5%), followed by nausea (4.7%; more commonly seen in females with p = 0.03) and bladder symptoms (4.7%; more commonly seen in males, with p = 0.003). Infections (10.3%) and acute abdominal pain (9.1%) were the most frequent diagnoses. About 18% of them were admitted to the hospital and 80% were discharged home. Conclusion The profile of patients with colorectal cancer seeking the emergency department comprises patients with advanced disease and a similar proportion of males and females. Symptom-driven complaints were the most frequent reason for consultations.

ABSTRACT BACKGROUND: In Brazil, since 2015, the treatment of hepatitis C is provided by SUS (Public Health System) with direct-acting antiviral (DAA). OBJECTIVE: To describe the rate of non-adherence patients to hepatitis C treatment by DAA, investigating the epidemiological data in a large database from Curitiba, Brazil. METHODS: Retrospective study with patients treated between January 2015 and June 2019. Patients were considered adherent when received all medication doses during their treatment. The following data were evaluated: gender, age, type of treatment, period of treatment, presence of diabetes or HIV, previous therapy, originated from SUS or private medicine, fibrosis grade and HCV genotype. RESULTS: 1248 patients (56.8% males) were studied and 102/1248 (8.2%) were non-adherent to treatment. Age or gender not influenced significantly; 10.2% patients from SUS and 3.7% individuals from private medicine were non-adherent (P

ABSTRACT BACKGROUND: Dermatitis herpetiformis (DH) is considered a skin celiac disease (CD). The individuals can be seen by primary care professionals or by dermatologists that could refer the patient to a gastroenterologist. OBJECTIVE: The study aimed to investigate the clinical profile of patients diagnosed with DH and referred to a gastroenterologist and evaluate the treatment response. METHODS: We retrospectively studied patients with DH referred to the same gastroenterologist at a private office in Curitiba, Brazil, between January 2010 to December 2019. We included adult patients with a confirmed DH diagnosis. Symptoms, clinical signs, laboratory and histological data, as well as treatment response, were collected. RESULTS: Thirty-three patients were studied (60.6% women, mean age at diagnosis 40.8±12.61 years). The median delay for DH diagnosis was four years. Skin involvement was mild in 33.3%, moderate in 18.2%, and severe in 48.5%. The more frequent gastrointestinal complaints were abdominal distension (78.8%), flatulence (75.7%), and gastroesophageal reflux (51.5%). Depression and anxiety were observed in 81.8% and anemia in 51.1%. A higher prevalence of bone disorders was associated with higher age at DH diagnosis (P=0.035). Duodenal biopsy showed changes in all patients. Improvement after treatment only with a gluten-free diet (GFD) plus dapsone was verified in 81.2%. CONCLUSION: Patients with DH referred to a gastroenterologist showed a high frequency of gluten intolerance and systemic complaints. Duodenal histological alterations were found in all the cases. The treatment based on GFD plus dapsone was effective in most patients.

Abstract Introduction The treatment of schizophrenia aims to reduce symptoms, improve quality of life and promote recovery from debilitating effects. Nonadherence to treatment is related to several factors and may lead to persistence of symptoms and relapse. Worldwide, the rate of nonadherence to treatment in individuals with schizophrenia is around 50%. Objectives To compare the clinical profile of nonadherent and adherent patients among individuals diagnosed with schizophrenia receiving treatment at psychosocial care centers in a city in southern Brazil. Method The clinical-epidemiological profile of patients with schizophrenia was retrospectively analyzed based on medical records entered into the system between January and December 2016, evaluating data at one-year follow-up. Results 112 patients were included. The disease was more prevalent in men; mean age was 40.5 years, being lower among men. Most of the sample had a low level of education, was unemployed/retired, did not have children and resided with relatives. The highest rate of diagnosis was among young adults. Psychotic symptoms were most frequently described, and the most commonly prescribed antipsychotic was haloperidol. The nonadherence rate was 15.2%; only one patient required admission to a psychiatric hospital. Among nonadherent patients, the mean time of attendance was 6 months; there were more nonadherent women than men. The most prevalent age range of nonadherence was 41-64 years. Psychosocial and clinical data were similar across the whole sample. Conclusion A nonadherence rate of 15.2% was found among individuals receiving treatment for schizophrenia, suggesting that psychosocial care centers were effective in treating and monitoring these patients.

Introduction: The COVID-19 outbreak was responsible for a high number of deaths worldwide. Not only the physical health was affected by COVID-19. Thus, to avoid the infection spreading, social distancing and quarantine have been adopted, bringing rupture to previous habits, economic losses, and isolation. Objective: To study the sexual life during the COVID-19 pandemic in Brazilian individuals. Methods: This cross-sectional study using an internet survey was conducted from June 10th to July 30th, 2020 with epidemiological questions, questions on fatigue and depression, and the sexual quotient scale (SQS). Results: The survey was answered by 2,131 individuals: 325 males, median age 25 years (IQR=22.0-33.5 years), range between 18 to 69 years and 1,806 females with median age 25 years (IQR=22-31 years), range between 18 to 67 years. In 49% of males and 29% of females (29%), there were no changes in sexual life. In 43.7% of females and 32.1% of males, some deterioration was observed while in 26.3% of females and 18.1% some improvement was noted. Despite this, 90.8% of males and 85% of females scored as having good sexual performance according to SQS. Sexual performance was negatively influenced by fatigue, state of mind in males and females; having a fixed partner and staying at home impaired male performance. Conclusion: Despite the pandemic, the studied sample showed good sexual performance in the studied period.

ABSTRACT BACKGROUND: Celiac disease (CD) is an autoimmune disease characterized by immune reaction mostly to wheat gluten. The diagnosis is based on clinical, serological and histological findings in patients ingesting gluten. Cases that the clinical profile indicates CD and the autoantibodies are negative bring so a dilemma for the professional, as the risk of missed the diagnosis or a delay at the same. OBJECTIVE: To show the importance of correct diagnosis of cases with seronegative celiac disease (SNCD). METHODS: Ten cases of SNCD Brazilian patients were retrospectively studied (2013 to 2019). Data of clinical complaints, autoantibodies, IgA serum levels, histological findings and HLA-DQ2/DQ-8 were compiled. Dual-X densitometry, delay at diagnosis, previous autoimmune diseases and family history of CD were also checked. RESULTS: All SNCD patients presented clinical symptoms of CD, with confirmed diagnosis by histological findings of the duodenal mucosa and HLA-DQ2 and/or HLA-DQ8 positivity. All patients had normal IgA levels and negative autoantibodies (IgA-anti-transglutaminase and anti-endomysial). Dual-X densitometry detected osteopenia in two women and osteoporosis in two males, all with low levels of vitamin D. Delay diagnostic ranged from 1 to 19 years. Familiar occurrence of CD was reported in 40% of the cases. After one year of gluten-free diet, eight patients refer improve of symptoms, while duodenal biopsies, done in five cases, showed histological improvement. CONCLUSION: Patients who demonstrate the clinical profile of celiac disease with negative serology and normal levels of IgA, especially those who have family members with celiac disease, should be submitted to duodenal biopsies to look for histological findings.

Introduction: Acne and isotretinoin, one of its treatment, have been linked to the occurrence of depression. Our aim was to study if isotretinoin is associated with depression in a sample of acne patients followed for 6 months comparing them with acne patients under other treatment modalities and control patients without acne. Methods: One hundred individuals were included: 50 controls and 50 with acne (24 using and 26 not using isotretinoin). Patients and controls answered the Beck Depression Inventory (BDI) and the 12 Item-Short Form Health Survey for quality of life (SF-12). Acne patients repeated this evaluation in 90 and 180 days. Results: No differences were found between controls and acne patients regarding BDI results but controls performed worse in the SF-12 mental domain (p=0.004). No differences were found within the acne group between those treated and not treated with isotretinoin in the comparison of the BDI and SF-12 (mental and physical domains) in days 0. 90 and 180 (all with p>0.05). Conclusion: In this small sample isotretinoin treatment showed to be safe regarding the occurrence of depression.

ABSTRACT BACKGROUND: Celiac disease (CD) is a chronic enteropathy in response to ingestion of gluten. CD was associated with gynecological disorders. OBJECTIVE: In this retrospective study, we aimed to investigate the age of menarche, age of menopause, number of pregnancies and abortions in Brazilian celiac patients. METHODS: We studied 214 women diagnosed with CD and as control group 286 women were investigated. RESULTS: Regarding the mean age of menarche, a significant difference was found (12.6±1.40 in CD and 12.8±1.22 years in healthy group; P=0.04). Regarding abortions, in CD women 38/214 (17.8%) and 28/286 (9.8%) in the control group reported abortion (P=0.0092, OR:1.98; CI95%=1.1- 3.3). There was no significant difference in the mean age of menopause nor number of pregnancies per woman. CONCLUSION: In this study, we found that celiac women had a higher mean age of menarche and higher risk of spontaneous abortions.

Resumo Objetivo: Avaliar a eficácia de um protocolo de redução da saturação do oxigênio utilizado na suplementação dos recém-nascidos pré-termos (RNPT) internados em uma UTI neonatal para prevenir o aparecimento da Retinopatia da prematuridade (ROP). Métodos: Trata-se de estudo de coorte realizado em única UTI Neonatal. O primeiro grupo (pré-protocolo, n=30) fez uso de oxigênio com saturação de hemoglobina >95%. A partir da instituição de um novo protocolo de oxigenioterapia que manteve a saturação de hemoglobina entre 90% e 95% obteve-se o segundo grupo (pós-protocolo n=28). Todos os RNPT incluídos tinham idade gestacional de menor ou igual 32 semanas e/ou com peso de nascimento igual ou abaixo de 1500g, fizeram mapeamentos de retina a partir de 28 dias de vida e seguimento por até 45 semanas de idade gestacional corrigida. Resultados: Dos 58 casos estudados, excluindo-se os que foram a óbito (15/58; 26,8%) dos casos, ROP foi diagnosticado em 15/43 (34,9%) pacientes. A menor idade gestacional influenciou significativamente no aparecimento da ROP (p=0,002). Em relação ao número de casos de ROP e de óbitos não se observou diferença estatisticamente significativa entre os grupos. O tempo de oxigenioterapia foi significativamente associado com a presença de ROP em ambos grupos. Meninos foram seis vezes mais acometidos por ROP que as meninas. Conclusão: A redução da saturação de oxigênio não se mostrou eficaz para redução de número de casos de ROP.

Background: Chronic inflammatory diseases lead to glycation of protein, lipids and nuclear acids. One product generated in this context is pentosidine. Aim: To study pentosidine levels in Systemic Lupus Erythematosus (SLE) and its possible association with disease activity and cumulative damage. Methods: Pentosidine serum levels were measured in the serum by ELISA commercial kits in 79 patients with SLE. Disease activity index and cumulative damage were studied by SELENA-SLEDAI (Safety of Estrogen in Lupus National Assessment Systemic Lupus Erythematosus Disease Activity Index) and cumulative damage by SLICC/ACR DI (Systemic Lupus International Collaborating Clinics/American College of Rheumatology damage index for Systemic Lupus Erythematosus) respectively and simultaneously with determination of pentosidine levels. Epidemiological and clinical and serological profile were collected from the charts. Results: In the 79 studied patients, the SLEDAI ranged from 0 to 12 (median of 0) and the SLICC/ACR-DI from 0 to 4 (median of 0). Serum pentosidine levels did not correlate with SLEDAI neither with SLICC. Patients with discoid skin lesions and photosensitivity had lower levels than those without them, with p ​= ​0.04 in both. Conclusion: In SLE, serum pentosidine levels did not reflect activity and cumulative damage. Patients with skin manifestations had lower levels of this biomarker.

Objectives: Fragile X syndrome (FXS) is caused by expansion of the number of cytosine-guanine-guanine (CGG) repeats in the regulatory region of the gene fragile X mental retardation 1 (FMR1). The molecular diagnoses of FXS can be performed using two tests based on two different techniques, namely polymerase chain reaction (PCR) and Southern blotting (SB). However, both of these techniques have limitations. The purpose of this study was to evaluate the performance of the commercial FragilEase™ PCR kit for FXS diagnosis comparing to other laboratory methods. Design: and methods: This study had a retrospective design. We analyzed the performance of the FragilEase™ PCR kit using 90 DNA samples from patients with clinical suspicion of FXS or a family history of the syndrome using capillary electrophoresis and compared with the results obtained for the same samples using PCR, SB, and AmplideX FMR1 PCR. Results: FragilEase™ PCR kit displayed high concordance with the results obtained using PCR, SB, and AmplideX FMR1 PCR regarding the detection of normal, intermediate/gray zone, premutation, and full mutation alleles, as well as female homozygosity and mosaicism. The replicate sizes found using the FragilEase™ PCR assay varied on average by two CGG repeats. Conclusion: FragilEase™ PCR, as well as other commercially available kits, efficiently detect FMR1 mutations and simplify the workflow in laboratories that performing FXS diagnoses.

Background: Mannose binding lectin (MBL) appears to be involved in susceptibility to rheumatoid arthritis (RA), in the inflammatory process and in the genesis of atherosclerotic disease. Objective: To study the association of MBL serum levels and its genotypic variation with carotid arteries intimal thickness (IMT) in RA patients from Southern Brazil. Methods: MBL serum levels, MBL2 genotyping and IMT were investigated in 90 RA patients along with their demographic, clinical and laboratory profile. MBL levels and MBL2 genotyping were evaluated in 90 healthy controls. Results: A significant lower MBL serum concentration was observed in patients with RA in relation to controls (528 ng/mL vs 937.5 ng/mL, p = 0.05, respectively). The median IMT in RA patients was 0.59 mm (0.51 to 0.85 mm). There was no correlation between levels of MBL with disease activity, erythrocyte sedimentation rate, autoantibodies presence or IMT (p = NS). A weak and negative correlation was found between MBL and CRP levels (Rho = −0.24; p = 0.02;). The MBL2 variant at codon 54 (variant B) and HYPA haplotype were the most frequently observed in the RA sample (67.5% and 31.7%). MBL2 wild type (A/A) were associated with lower IMT when compared with heterozygotes (A/O; p = 0.04) and low producers (O/O; p = 0.05). In addition, high producers genotypes had lower levels of CRP when compared with medium (p = 0.04) or with low producers (p = 0.05). Conclusion: RA patients had lower MBL levels than controls. MBL were negatively associated with CRP serum levels; low MBL genotypes producers increased thickness of the IMT than high producers. Keywords: Mannose binding lectin, Rheumatoid arthritis, Atherosclerosis

Objective: To investigate the association between mannose-binding lectin (MBL) serum level and MBL2 polymorphisms, and the frequency of spontaneous miscarriages in rheumatoid arthritis (RA) patients. Methods: One hundred seventy seven women (mean age 50 years) with RA from Southern Brazil were studied and 4.5% had a history of abortion (8/177). The MBL levels were determined by ELISA. MBL2 polymorphisms in the promoter (−550H/L, −221X/Y), 5′ untranslated region (4 P/Q) and exon 1 (p.Gly54Asp: B allele, p.Arg52Cys: D allele and p.Gly57Glu: C allele; collectively labelled O) were genotyped by sequencing. Results: Mannose-binding lectin levels of RA patients ranged from ≤100 ng/mL to 6640 ng/mL (median 541.5 ng/mL). There was a significant difference in MBL median levels (100 ng/mL vs. 625 ng/mL, respectively, p = .001) and frequency of MBL deficiency (75.0% vs. 24.1%, p = .007, OR = 10.3, 95%CI = 1.9–55.4), in patients with a history of miscarriage vs those without it. Patients with RA and miscarriage had more frequently haplotypes related with low MBL levels (p = .007, OR = 10.5, 95%CI = 1.3–84) than high producers. Moreover, LYPB haplotype and O allele were significantly associated with the occurrence of miscarriage (p = .001, OR = 9.7, 95%CI = 2.4–39.1 and p = .009, OR = 5.9, 95%CI = 1.4–23.4, respectively). Conclusions: The results suggest that MBL deficiency and the presence of MBL2 gene polymorphisms that lead to MBL deficiency are risk factors for the occurrence of miscarriage in patients with RA.

INTRODUCTION: Oral cleft is the second major cause of congenital anomalies and represents a major craniofacial alteration in live births. The objective of this study was to analyze the epidemiological data collected from the Center for Comprehensive Care to Individuals with Cleft Lip and Palate in the period from January 2011 to December 2014. METHODS: This retrospective study evaluated 1,262 medical records of patients with an oral cleft. After applying the inclusion and exclusion criteria, 52.7% of the medical records were included in the study. RESULTS: Among the 666 medical records, 57.4% were of male patients and 42.6% were of female patients. Of these, 34.8% of the patients had a trans-foramen cleft, 27.2% had a pre-foramen cleft, 25.8% had a post-foramen cleft, and 12.2% had another type of cleft. Patients from Curitiba and the metropolitan region constituted 36.6% of the cases, and patients from rural areas of Paraná represented 61% of the visits to the care center. The median age at the first visit of the patients from Curitiba/metropolitan region and rural areas of Paraná was 1 and 2 months, respectively. The first surgery was performed at the care center at the age of 6 months in patients from Curitiba and metropolitan region and 7 months in patients from rural areas of Paraná. CONCLUSION: There was a predominance of boys and a higher prevalence of incomplete post-foramen clefts in the total population. Despite the long distance to the care center, children from rural areas of Paraná underwent the correction surgery and were treated at the referral center with an age difference of only 1 month compared with patients who lived in Curitiba, where the care center is located.

Context: Colorectal cancer is the third leading cause of death from malignancy in the world and the fourth leading cause in Brazil's ranks. Adenomatous polyps are considered premalignant lesions, and its resection reduces both morbidity and mortality rates. Objectives: Investigate the prevalence of premalignant lesions and correlate it with age and gender, as well as with the lesion found profile: location, morphology, histology and grade dysplasia. Methods: This was a retrospective, observational and descriptive study. We analyzed and tabulated results of polyps reports sent to Pathology Laboratory in the period ranging from January 1 to December 31, 2013, in Curitiba, Paraná, Brazil. Results: We analyzed 4640 reports of colorectal polypectomy, coming from 3089 patients, of whom 97.6% were examined by colonoscopy. Concerning gender, 56.5% were female and 43.5% were male. The mean age was 57.6 years (ranging from 15 to 92 years). The predominant removal areas of polyps were rectum in 26.2% and sigmoid in 24.2% cases. About histological aspects, the most common type – adenoma – was present in 75.1% polyps, of which 74.2% were tubular and 21.7% were serrated. Among the non-adenomatous polyps, hyperplastic prevailed with 88.7% cases. Malignancy was observed in 100 cases (2.15%). Conclusion: This study showed higher incidence of colorectal polyps in women, although adenocarcinomas are equally distributed in both sexes. In addition, the average age of patients undergoing colonoscopy is decreasing. Furthermore, 2.15% polyps sent for pathology analysis were found to be malignant. Resumo: Contexto: O câncer colorretal (CCR) é a terceira causa de morte por doença maligna no mundo e, no Brasil, ocupa a quarta posição. Os pólipos adenomatosos são considerados lesões pré-malignas e a sua ressecção diminui a taxa de morbimortalidade. Objetivos: Verificar a prevalência das lesões pré-malignas e malignas, correlacionando com a idade e gênero, com perfil da lesão encontrada: tamanho, localização, aspecto morfológico, tipo histológico e grau de displasia. Métodos: Estudo retrospectivo, observacional e descritivo. Foram analisados os resultados dos laudos encaminhados a um Laboratório de Patologia, no período de janeiro a dezembro de 2013, em Curitiba, Paraná, Brasil. Resultado: No total, analisou-se 4640 laudos de polipectomias colorretais, oriundos de 3089 pacientes, dos quais 97,6% realizaram exame por colonoscopia. Em relação ao gênero, 56,5% eram mulheres e 43,5% homens. A idade média foi 57,6 anos (entre 15 e 92 anos). Os locais predominantes de retirada dos pólipos foram reto (26,2%) e sigmoide (24,2%) dos casos. Em relação aos aspectos histológicos, o tipo mais comum foi adenoma, presente em 75,1% dos pólipos, dos quais 74,2% eram do tipo tubular e 21,7% serrilhado. Dentre os pólipos não adenomatosos, predominou o hiperplásico com 88,7% dos casos. A presença de malignidade foi observada em 100 casos (2,15%). Conclusão: O presente estudo evidenciou maior frequência de pólipos colorretais em mulheres, embora os adenocarcinomas estejam distribuídos igualmente em ambos os sexos. Além disso, a média de idade dos indivíduos que fazem colonoscopia está diminuindo. Malignidade foi encontrada em 2,15% dos pólipos encaminhados para análise anatomopatológica. Keywords: Colonoscopy, Polyp, Colorectal cancer, Palavras-chave: Colonoscopia, Pólipo, Câncer colorretal

ABSTRACT Objective To evaluate the epidemiological profile of patients seen at a dementia outpatient clinic. Methods A retrospective study conducted by medical record review searching data on sex, race, age, schooling level, and diagnosis of patients seen from 2008 to 2015. Results A total of 760 patients were studied, with a predominance of female (61.3%; p

Introdução: A insatisfação dos jovens com o corpo propicia a busca de recursos como suplementos alimentares e vitamínicos que podem oferecer riscos à saúde. Objetivo: Conhecer a frequência de uso de vitaminas industrializadas e suplementos alimentares, o grau de conhecimento, principais fontes de informação e motivações para uso. Materiais E Métodos: Estudo transversal com universitários de 9 cursos de graduação de uma universidade privada de Curitiba-PR. Foram incluídas 14 perguntas sobre aspectos gerais de vitaminas e suplementos alimentares. Discussão: Os suplementos mais consumidos foram os de origem proteica, padrão similar ao visto em outros estudos. O uso abusivo dessas substâncias pode causar danos renais e favorecer a oncogênese. Resultados: A amostra foi composta por 1014 alunos, sendo 543 (53,5%) do gênero masculino. Da amostra total, 315 (31%) faziam uso de suplementos alimentares e/ou vitamínicos, sendo 100 (9,8%) somente de vitaminas, 135 (13,3%) somente de suplementos e 80 (7,8%) ambos. A maioria dos usuários de vitaminas 96 (53,4%) e de suplementos 156 (74,5%) o fazia sem indicação médica. A internet foi a principal fonte de informação, consultada por 774 (76%) alunos. O aumento da força muscular 218 (69,2%) e a melhora da imunidade 185 (58,7%) foram as motivações mais citadas. Conclusão: Dentre os pesquisados 31% faziam uso de vitaminas e/ou suplementos, além de recorrerem majoritariamente à internet como principal fonte informativa. A principal motivação foi aumentar a força muscular. O consumo de vitaminas sem indicação médica não foi acompanhado por aumento no conhecimento sobre o tema, favorecendo a ocorrência dos efeitos adversos. ABSTRACT New sources of information and its impact on the knowledge of university students on the use of vitamins and dietary supplements Introduction: The dissatisfaction of young people about their own bodies stimulates the search for products such as dietary supplements and vitamins, which may be a health hazard. Objective: To know the use frequency of these substances, what the participants know about the matter, evaluate which information sources are used and identify the main motivations of its use. Methodology: It has been performed a cross-sectional study with students of 9 different majors in a private university of Curitiba-PR. Were included 14 questions about knowledge and use of vitamins and dietary supplements. Discussion: Protein supplements were the most consumed, which is consistent with other studies. The abusive use of those substances may cause kidney injuries and favor oncogenesis. Results: The sample were composed by 1014 students, with a 541 (53.3%) male gender rate. From the total amount, 313 (31%) confirmed to use vitamins and/ or dietary supplements, with 101 (10%) using only vitamins, 134 (12%) only supplements and 78 (8%) using both. Most of the consumers of vitamins 94 (52.3%) and supplements 156 (73.8%) were taking the substances without medical indication. The internet was the most used source of information, with 774 (76%). The major motivations for the consumption of supplements and vitamins were to increase muscle strength (69.2%) and to increase immunity (58.7%). Conclusion: Among the interviewed students, 313 (31%) said to be taking vitamins and/or supplements, using mainly the internet as an information source. The major motivation was to increase muscle strength. Vitamin intake without medical indication was not followed by a proper knowledge of the matter, what may facilitate the occurrence of adverse effects.

Background: Osteoporosis (OP) is a metabolic bone illness that may complicate celiac disease (CD). It can lead to devastating consequences because of low bone mass and fragility fractures. Purpose: To study the OP prevalence in a group of Brazilian patients with CD and the value of a gluten free diet (GFD). Methods: Retrospective study of celiac female patients from a single University Center followed with bone densitometries. Results from densitometry made at first visit were compared with a second study after a median time of 5 years. During this period, patients were submitted to a GFD according to orientations from special program training. Calcium and vitamin D were prescribed to those patients who did not reach the minimal daily requirement through diet. Results: Forty-one celiac female patients, mean age 46.1 ± 14.8 years, were included. The prevalence of osteopenia at first visit was 56.1% and that of osteoporosis 29.2%. Osteoporosis was associated with longer disease duration (p = 0.01). The second densitometry was performed in a median time of 5 years (range 1 to 13 years) and disclosed 58.9% osteopenia and 28.2% osteoporosis. The GFD improved bone mass, mainly at (of) spine (comparison of T score with p = 0.03 and of bone mass in g/cm² with p = 0.02), but it was not sufficient to reduce the number of osteopenic (p = 0.9) and osteoporotic patients (p = 0.4). During the follow up period 25% of osteoporotic patients developed low impact fractures. Conclusion: Bone health is notably impaired at baseline in CD patients, especially in those with a diagnostic delay. A GFD modestly improved bone mass density with low impact fractures occurring in one third of patients during the follow up period.

Background: MBL-associated serine proteases (MASP-1, MASP-2, MASP-3, MAp-44, and MAp-19) are key factors in the activation of the lectin pathway of complement. Serum levels of these components have been associated with recurrence and poor survival of some types of cancer, such as colorectal and ovarian cancer. In this investigation, we determined the serum levels of MASP-1, MASP-2, MASP-3, MAp-44, and MAp-19 in patients with cervical cancer and cervical intraepithelial neoplasia (CIN).Methods:A total of 351 women who underwent screening for cervical cancer or treatment at the Erasto Gaertner Cancer Hospital in Curitiba-Brazil, were enrolled in the study. Based on their latest cervical colposcopy-guided biopsy results, they were divided into four groups: CIN-I: n = 52; CIN-II: n = 73; CIN-III: n = 141; and invasive cancer: n = 78. All the serum protein levels were determined by time-resolved immunofluorometric assay (TRIFMA).Results:Patients with invasive cancer presented significantly higher MASP-2, MASP-1, and MAp-19 serum levels than other groups (p < 0.0001; p = 0.012; p = 0.025 respectively). No statistically significant differences in MASP-3 and MAp-44 serum levels were found between the four studied groups. In addition, high MASP-2, MASP-1, and MAp-19 serum levels were significantly associated with poor survival in patients with invasive cancer and relapse (p = 0.002, p = 0.0035 and p = 0.025, respectively).Conclusion:High MASP-2, MASP-1, and MAp-19 serum levels were associated with cervical cancer progression and worse disease prognosis. These novel findings demonstrate the involvement of the serine proteases of the lectin pathway in the pathogenesis of cervical cancer and future investigations should clarify their role in the disease process.

Introduction: There are few studies that investigated whether Down syndrome (DS) interferes with references values for complete blood counts (CBC) test in children with the syndrome. Objective: This study aimed to analyze the results of CBC performed in children with DS. Patients and methods: Data from CBC of DS children were included; at the time of examination they were aged between 2 and 10 years and had no clinical signs and/or symptoms of infectious disease. The hematological parameters analyzed were: total number of erythrocytes (RBC), hemoglobin (Hb) concentration, hematological indices, platelet count, and total number of leucocytes. Additionally, we compared the collected parameters according to gender and age of the children studied. Results: A total of 203 CBC (100 girls and 103 boys) were evaluated. In general, no significant differences were observed in studied parameters between the values found in samples of DS children and the values described in the literature as a reference for children in this age group. No difference in the prevalence of anemia was observed in relation to gender (p = 0.33), 14/103 (13.6%) boys, and 11/100 (11%) girls had anemia. However, the Hb and hematological indices values found in boys was significantly lower than in girls (p < 0.001). Conclusion: This investigation is the first one in Brazil to present and analyze the CBC results of DS children, reporting that their hematological indices are within the expected range for children without DS. Additionally, it was found that 12.3% of them had anemia.

Both celiac disease and scleroderma have autoimmune etiology and affect the bowel causing diarrhea. As an association of autoimmune disease in a single individual is not rare, it is important to know if a patient with scleroderma may also have celiac disease. To analyze this we studied 105 scleroderma patients and 97 volunteers for IgA-EmA by indirect immunofluorescence assay. We could not find a higher prevalence of this autoantibody in scleroderma patients. The authors conclude that there is no need to screen scleroderma patients with diarrhea for celiac disease unless there is a clear clinical indication for this.

ABSTRACT Objectives: This study aims to verify the new-onset diabetes after kidney transplant (NODAT) incidence in recipients within 1 year after kidney transplantation from a single center in Southern Brazil and to assess the associated conditions. Subjects and methods: A retrospective study of 258 post-renal transplant patients was performed. Demographic (gender, age, ethnic background) and clinical (origin of graft, associated infections, body mass index (BMI) at transplant time and 6 and 12 months after, causes of renal failure, and comorbidities) data were analyzed. All patients were on tacrolimus, mycophenolate mofetil, and prednisone treatment. Patients with and without NODAT were compared. Results: A NODAT incidence of 31.2% was noted 1 year post transplantation. In the univariate analysis, patients with NODAT were older (p = 0.001), mostly had African–American ethnic background (p = 0.02), and had renal failure secondary to high blood pressure (HBP) (p = 0.001). The group of patients with NODAT also had more incidence of post-transplant HBP (p = 0.01), heart failure (p = 0.02), and dyslipidemia (p = 0.001). Logistic regression showed that African–American ethnic background, post-transplant HBP, and dyslipidemia were independently associated with NODAT. Conclusion: This study shows a NODAT incidence that is greater in patients with African–American ethnic background and that is associated with HBP and dyslipidemia.

RESUMO Objetivo: Avaliar o conhecimento e a aceitação da população e dos profissionais que trabalham em unidades de terapia intensiva sobre a doação de órgãos após morte cardíaca. Métodos: Foram elencados os três hospitais com mais notificações de morte encefálica em Curitiba e estabelecidos dois grupos de entrevistados pelo mesmo questionário: o público geral, ou seja, acompanhantes de pacientes em unidades de terapia intensiva, e profissionais de saúde que trabalhavam nas mesmas unidades de terapia intensiva. O questionário aplicado perguntou sobre dados demográficos, a intenção de doar órgãos e o conhecimento da legislação vigente, bem como sobre morte encefálica e doação após morte cardíaca. Resultados: No total, foram 543 questionários coletados, sendo 442 de familares e 101 de profissionais de saúde. Observou-se predomínio de mulheres e de católicos em ambos os grupos. O sexo feminino apresentou maior intenção de doar. Os profissionais de saúde tiveram um desempenho melhor na comparação de conhecimento. A intenção de doar órgãos foi significativamente maior no grupo de profissionais de saúde (p = 0,01). Não houve diferença significativa na intenção de doar com relação ao grau de instrução ou renda. Houve maior aceitação da doação após morte cardíaca não controlada entre os católicos, quando comparados com os evangélicos (p < 0,001). Conclusão: A maioria da população geral teve intenção de doar, sendo maior a intenção no sexo feminino. Escolaridade e renda não influenciaram em tal decisão. A modalidade de transplante que utiliza doação após morte cardíaca não controlada não teve boa aceitação na população estudada, apontando para a necessidade de mais esclarecimentos para o uso no nosso meio.

ABSTRACT Introduction: The Sjögren's syndrome (SS) is an autoimmune disease characterized by lymphocytic infiltration. The currently most researched antibodies for its diagnosis are anti-La and anti-Ro, which, however, have low specificity in the case of SS secondary to rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). The antibodies against alpha-fodrin (AF) have been proposed to diagnose SS. Objective: In the present study, we investigated the anti-AF antibody in a group of RA patients with and without secondary SS (sSS). Methods: Were studied 90 consecutive patients with RA (48.8% of them with SS), and samples of 45 healthy volunteers. Anti-AF immunoglobulin class G (IgG) and anti-AF immunoglobulin class A (IgA) were investigated by enzyme-linked immunosorbent assay (ELISA) and were considered positive when >15 U/ml. Demographic, clinical, and serological data were obtained from chart reviews. Results: Anti-AF IgA was positive in 46/90 (51.1%) of the RA sample and 3/45 (6.7%) of controls (p < 0.001); anti-AF IgG was found in 21/90 (23.3%) of RA patients and none of controls (p = 0.037). Neither IgA nor IgG anti-AF antibodies showed significant difference in patients with and without sSS. Conclusion: In our study, anti-AF IgA and anti-AF IgG neither alloweded diagnosis of sSS in RA patients, nor marked any special clinical or serological finding.

ABSTRACT Objectives The objectives of this study were to evaluate the serum levels of adipokines in women with fibromyalgia with and without overweight/obesity, and to correlate the adipokines levels with clinical parameters associated with fibromyalgia and adipose tissue mass (body fat). Subjects and methods The study included 100 women divided into four groups: (a) fibromyalgia and overweight/obesity; (b) fibromyalgia and normal weight; (c) controls and overweight/obesity; and (d) controls and normal weight. Patients and controls were evaluated for clinical, anthropometric, and fibromyalgia-related parameters. Assessments included serum levels of leptin, adiponectin, monocyte chemoattractant protein-1 (MCP-1), and C-reactive protein (CRP). Levels of adipokines were further adjusted for fat mass. Results Fibromyalgia patients with overweight/obesity or normal weight had no differences in clinical parameters. Unadjusted leptin levels were lower in fibromyalgia patients than controls, a finding that was more remarkable in fibromyalgia patients with overweight/obesity. Leptin levels had no correlation with clinical parameters of fibromyalgia or inflammation markers (MCP-1 and CRP), and adiponectin levels showed no difference between groups. Conclusions No correlation was observed between adjusted leptin levels and clinical parameters of fibromyalgia. Patients with fibromyalgia and overweight/obesity presented lower levels of leptin than controls with overweight/obesity.

ABSTRACT CONTEXT AND OBJECTIVE: Increased life expectancy among people with Down syndrome (DS) has introduced new environmental factors that may affect blood pressure (BP) and/or lead to obesity in this population. The aim here was to investigate BP levels and body mass index (BMI) in adults with DS, correlating these data with the patients' sex and age. DESIGN AND SETTING: Analytical cross-sectional observational study conducted in special schools in Curitiba (PR), Brazil. METHODS: 97 adult patients were included. BP was measured in accordance with the established guidelines. BMI was calculated by dividing the weight by the height squared (kg/m2). RESULTS: Sex had no influence on BMI; nor did systolic BP (SBP) or diastolic BP (DBP). The age range was from 18 to 56 years. No correlation was observed between increasing age and greater BMI or BP. Eighty-six individuals (88.7%) presented normal BP, eleven (11.3%) prehypertension and none hypertension. Twenty patients (20.4%) presented BP lower than 90 × 60 mmHg. BMI ranged from 18 to 48 kg/m2 (mean of 28.8 ± 3.92 kg/m2): 21.9% had normal weight; 40.7% were overweight; and 25.3% had obesity class I, 9.9% class II and 2.2% class III. Higher BMI was associated with significantly greater SBP and DBP (P = 0.0175 and P = 0.0015). CONCLUSION: Sex and age did not influence SBP, DBP or BMI in Brazilian adults with DS. Higher BMI was associated with greater BP (both systolic and diastolic).

ABSTRACT Background Rheumatic diseases such as ankylosing spondylitis (AS) may be associated with sexual dysfunction. Aim To study erectile function of a group of Brazilian AS patients comparing them with controls. Materials and Methods This was a cross sectional study approved by the local Committee of Ethics in Research. The questionnaire IIEF (International Index of Erectile Function) was applied to 40 AS patients and 40 healthy controls. AS patients had determination of disease activity (through BASDAI or Bath Ankylosing Spondylitis Disease activity index), ASDAS (Ankylosing Spondylitis Disease Activity Score, MASES or Maastricht Ankylosing Spondylitis Score and SPARCC or Spondyloarthritis Research Consortium of Canada), function (through BASFI or Bath Ankylosing Spondylitis Functional Index and HAQ or Health Assessment Questionnaire) and BASMI (Bath Ankylosing Spondylitis Metrological Index). Results AS patients had a median score on IIEF of 22.0 (IQR=18-25) while controls had 29 (IQR=27-30) with p

ABSTRACT Objectives: To evaluate the frequency of four serum biomarkers in RA patients and their relatives and identify possible associations with clinical findings of the disease. Methods: This was a transversal analytical study. Anti-cyclic citrullinated peptide (anti-CCP), anti-mutated citrullinated vimentin (anti-MCV) and IgA-rheumatoid factor (RF) were determined by ELISA and IgM-RF by latex agglutination in 210 RA patients, 198 relatives and 92 healthy controls from Southern Brazil. Clinical and demographic data were obtained through charts review and questionnaires. Results: A higher positivity for all antibodies was observed in RA patients when compared to relatives and controls (p < 0.0001). IgA-RF was more frequent in relatives compared to controls (14.6% vs. 5.4%, p = 0.03, OR = 2.98; 95% CI = 1.11-7.98) whereas anti-CCP was the most common biomarker among RA patients (75.6%). Concomitant positivity for the four biomarkers was more common in patients (46.2%, p < 0.0001). Relatives and controls were mostly positive for just one biomarker (20.2%, p < 0.0001 and 15.2%, p = 0.016, respectively). No association was observed between the number of positive biomarkers and age of disease onset, functional class or tobacco exposure. In seronegative patients predominate absence of extra articular manifestations (EAMs) (p = 0.01; OR = 3.25; 95% CI = 1.16-10.66). Arthralgia was present in positive relatives, regardless the type of biomarker. Conclusions: A higher number of biomarkers was present in RA patients with EAMs. Positivity of biomarkers was related to arthralgia in relatives. These findings reinforce the link between distinct biomarkers and the pathophysiologic mechanisms of AR.

ABSTRACT BACKGROUND: Up to 15% of other immune-mediated diseases (IMDs) can occur in patients with CD throughout their lives and are associated with multiple factors, including sex and sex hormone levels. Moreover, sex is associated with differences in clinical presentation, onset, progression, and outcomes of disorders. OBJECTIVE: To investigate the prevalence of IMDs at diagnosis in patients with celiac disease (CD) and their first-degree relatives and to compare the findings between female and male patients of different age. METHODS: A retrospective study including Brazilian patients with CD who visited the same doctor during January 2012 to January 2017 was performed. Demographic and medical history data were collected through self-administered questionnaires and medical charts of the patients. In total, 213 patients were examined at diagnosis: 52 males (mean age, 40.0 years) and 161 females (mean age, 41.4 years). The patients were divided into two groups according to sex and age. RESULTS: IMDs were observed in 60.2% of the female (97/161) and 42.3% of the male patients (22/52; P=0.22). However, the frequency of IMDs was significantly higher in females aged 51-60 years than in males with same age (P=0.0002). Dermatitis herpetiformis (DH) was significantly more prevalent in males (P=0.02), whereas atopy was more prevalent in females (P=0.02). IMDs observed in first-degree relatives were similar to those observed in patients (70.9%; P

ABSTRACT BACKGROUND: Thyroid autoimmunity is more common in patients with rheumatic diseases than in healthy populations. The degree of association seems subject to influence from patients’ geographical location. Here, we aimed to ascertain the prevalence of thyroid autoantibodies in a cohort of patients with systemic rheumatic disease and the degree of association between its presence and inflammatory activity. DESIGN AND SETTING: Cross-sectional observational study in a rheumatology unit. METHODS: 301 patients with systemic lupus erythematosus (SLE), 210 with rheumatoid arthritis (RA), 58 with scleroderma (SSc) and 80 with spondyloarthritis (SpA) were studied regarding thyroid function (TSH and T4), anti-thyroglobulin (TgAb) and anti-thyroperoxidase (TPOab) and compared with 141 healthy controls. Disease activity in patients with rheumatic disease was assessed through appropriate indexes. RESULTS: There were more antithyroid antibodies in SLE patients with hypothyroidism (P = 0.01; odds ratio, OR 2.7; 95% confidence interval, CI: 1.20-6.26) and in those without hypothyroidism (P = 0.06; OR 2.4; 95% CI: 1.28-4.55) than in controls. SSc patients also showed: P = 0.03 both with antithyroid antibodies and hypothyroidism (OR 3.4; 95% CI: 1.06-10.80) and without hypothyroidism (OR 3.1; 95% CI: 1.11-0.13). RA and SpA patients had the same prevalence as controls (P not significant). Presence of autoantibodies with and without hypothyroidism was not associated with the activity or functional indexes evaluated. CONCLUSION: SLE and SSc were associated with higher prevalence of thyroid autoantibodies in patients with and without hypothyroidism, unlike SpA and RA. There was no link between thyroid autoantibody presence and disease activity or functional impairment.

ABSTRACT Introduction: Patients with Down syndrome (DS) seem to have higher rates of hyperuricemia, although there are very few studies that address this issue. High levels of uric acid (UA) are an independent risk factor for atherosclerotic heart disease. Objective: To study the prevalence of hyperuricemia in DS children and its distribution according to age. Methods: Retrospective study of 139 DS patients aged 1-14 years for serum UA values considering the normal cut-off values for age. Results: Among the 139 included patients, 70 (50.4%) were males, 69 (49.6%) were females, and the mean age was 5.31 ± 3.49 years (range 1-14 years). In this sample, 39 (28.1%) had serum UA levels above the normal value. We did not find differences in the serum UA according to gender, except in patients in the range of 13-15 years, where males had mean UA levels of 5.75 ± 1.37 mg/dl; and females, of 8.02 ± 0.77 mg/dl (p = 0.02). Conclusion: We found a high rate of hyperuricemia in children with DS that equally affects both genders, except in the age range of 13-15 years, in which it was more common among females.

ABSTRACT Objective: To evaluate the prevalence of neonatal dermatoses in the early neonatal period and to associate them with neonatal, demographic and obstetric variables. Methods: A cross-sectional study with neonates and their respective mothers, who were hospitalized in a public maternity hospital in Curitiba, PR, Brazil. Data collection was performed using information present in the medical records and a physical examination of the newborn during the period between April 2015 and May 2016. Results: 350 neonates were evaluated. 54.8% were male, and 94.8% (332/350) presented a dermatosis. Among them, 84.6% had, concomitantly, two or more dermatoses. A total of 23 types of dermatoses were diagnosed. The most prevalent were: sebaceous hyperplasia (66%); fluff (42.6%); and salmon patches (41.4%). The mean age of the mothers was 24.9±4.9 years old, and they were predominately white (57.7%). Vernix caseosa was associated with the female gender (p=0.034). Nonwhite mothers were associated with genital hyperpigmentation (p=0.03) and Mongolian spots (p=0.001). Physiological flaking was associated with cesarean deliveries (p=0.03) and a gestational age of over 40 weeks (p=0.054). Salmon patches was associated with primiparity (p=0.0001). Conclusions: There was a high prevalence of neonatal dermatosis in the studied population. Each newborn had, on average, three different dermatoses. Dermatosis in neonates was associated with primiparity, nonwhites, a gestational age of over 40 weeks, and the sex of the newborn.