Arthrogryposis in Murrah buffaloes in southern Brazil

Congenital arthrogryposis is described in a Murrah buffalo herd. The disease was characterized by curvature and multiple articular rigidity of the hindlimbs or of all limbs without associated defects except for one case of brachygnatia. Histologically there was reduction of motor neurons from the ventral horns of the spinal cord and hypoplasia of the limb muscles. Analysis of the herd breeding records suggests that the disease is genetically transmitted by an autosomal recessive trait.Facultad de Ciencias Veterinaria

Prevalência e incidência da hepatite C em pacientes submetidos a transplante renal

OBJECTIVE: To detect the prevalence and the seroconversion of the anti-HCV in renal transplants, while evaluating the presence of this antibody at the time of thetransplant, and during a 1-year follow-up, as well as the possibility of transmitting the disease to the recipient of the contaminated organ.PATIENTS AND METHODS: We investigated the prevalence of anti-HCV infection in 48 kidney transplant recipients, and also in their respective donors. Serumspecimens were collected from the organ recipients right before kidney transplant, and 6 and 12 months after transplant; serum specimens were collected from donors at the time of nephroctomy. The 192 samples were stored at -20º C. The anti-HCV tests used were commercial kits based on synthetic HCV peptides (UBI), enzygnost anti-HCV (Boehringer), and Abbot HCV EIA 2nd generation. In patients with a positive anti-hepatitis C UBI test, the presence of HCV-RNA was verified by polymerase chain reaction .RESULTS: Eleven of 40 patients had positive UBI results, and 12 of 48 had positive EIA anti-HCV results before the transplant. Sixteen patients were anti-HCV positive during the 1-year follow-up. Two patients became positive after 6 months, and one after 12 months. One of these patients was also HCV-RNA positive. No transplant recipient patient with positive anti-HCV before transplant seroconverted after 1 year. Fifty percent of the patients who received a kidney were HCV-RNA positive. Three of 40 donors indicated a positive anti-HCV antibody in the UBI test, and 4 of 48 donors indicated a positive anti-HCV antibody in the Boehringer and EIA tests. Two donors were HCV-RNA positive.CONCLUSIONS: The prevalence of anti-HCV before transplant was high, and the serconversion to positive was low during the follow-up; none of the anti-HCV positive patients seroconverted; the HCV-RNA positive patients did not change to negative after transplant, which indicates the persistence of viral replication even after immunosupression; anti-HCV positive donors, even in the presence of HCV-RNA, did not transmit the infection during 1 year after transplant.OBJETIVO: Investigar a prevalência do anti-VHC em 48 receptores renais e seusrespectivos doadores.PACIENTES E MÉTODOS: Foi coletado sangue dos receptores pré-transplante, 6meses e 1 ano pós-transplante; e dos doadores, no momento da nefrectomia. As192 amostras foram conservadas a -20 °C. Os testes anti-VHC utilizados forampeptídeos sintéticos (UBI) e ELISA de segunda geração (Abbott). Nos pacientescom positividade ao anti-VHC pelo teste UBI, foi pesquisado o VHC-ARN por reaçãoem cadeia da polimerase.RESULTADOS: Onze de 40 receptores foram anti-VHC positivos pelo teste da UBIe 12 de 48 pelo teste da Abbott pré-transplante. Dezesseis pacientes apresentarampositividade ao anti-VHC no período de 1 ano pós-operatório. Dois positivaram aos6 meses e um em 1 ano. Um deles apresentou positividade também ao VHC-ARN.Nenhum paciente anti-VHC positivo seroconverteu com 1 ano de seguimento.Verificou-se a presença do VHC-ARN em 50% dos receptores renais. Três de 40doadores foram anti-VHC positivos pelo teste UBI e 4 de 48 pelo teste Abbott. Doisdoadores apresentaram positividade ao VHC-ARN.CONCLUSÕES: 1) A prevalência do anti-VHC pré-transplante foi alta, porém aseroconversão para anti-VHC positivo no seguimento de 1 ano foi baixa; 2) nenhumpaciente anti-VHC positivo seroconverteu; 3) houve manutenção da positividadeao VHC-ARN demonstrando persistência da replicação viral apesar daimunossupressão; 4) os doadores anti-VHC positivos, mesmo com a presença doVHC-ARN não transmitiram a infecção através do enxerto renal no seguimento de1 ano pós-operatório

Effects of oxidative stress during human and animal reproductions: A review

Given its high ability to damage important cellular components (lipids, proteins and deoxyribonucleic acid), oxidative stress is now recognized as one of the most common mechanisms associated with development of a variety of diseases and natural events such as pregnancy. During reproduction period, there is a change in the pro-oxidant and antioxidant balance due to the body and circulation modifications that are inherent to the pregnancy process. The present paper discusses the role of oxidative stress on the reproduction process. More effective defense strategies are needed to decrease the deleterious effects of oxidative-stress-induced gestation. This approach could be achieved by antioxidant status alteration. Further clinical and experimental studies are needed for better understanding of oxidative stress mechanism and the impact of antioxidant supplementation on reproduction

Arthrogryposis in Murrah buffaloes in southern Brazil

Congenital arthrogryposis is described in a Murrah buffalo herd. The disease was characterized by curvature and multiple articular rigidity of the hindlimbs or of all limbs without associated defects except for one case of brachygnatia. Histologically there was reduction of motor neurons from the ventral horns of the spinal cord and hypoplasia of the limb muscles. Analysis of the herd breeding records suggests that the disease is genetically transmitted by an autosomal recessive trait.Facultad de Ciencias Veterinaria

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.Hospital de Clinicas de Porto Alegre Serviço de Génetica MédicaUniversidade Federal do Rio Grande do Sul Departamento de GéneticaInstituto Nacional de Genética Médica PopulacionalAsociación Colombiana de Neurología InfantilInstituto Mexicano del Seguro SocialInstituto de Estudios AvanzadosHospital de NiñosLa Misericordia University HospitalUniversidade Federal de São Paulo (UNIFESP) Centro de Referência em Erros Inatos do MetabolismoUniversidade Federal de BahiaUniversidad de Chile Instituto de Nutrición y Tecnología de los AlimentosHospital Italiano Instituto de Genética MédicaHospital Pequeno Príncipe Departamento de NeuropediatraHospital Universitario AustralUNIFESP, Centro de Referência em Erros Inatos do MetabolismoSciEL

Maior mortalidade durante a pandemia de COVID-19 em áreas socialmente vulneráveis em Belo Horizonte: implicações para priorização da vacinação

Objective: To assess mortality during the COVID-19 pandemic according to social vulnerability by areas of Belo Horizonte (BH), aiming at strategies for vaccination. Methods: Ecological study with mortality analysis, according to census tracts classified by the Health Vulnerability Index, a composite indicator that includes socioeconomic and sanitation variables. Deaths due to natural causes and COVID-19 were obtained from the “Mortality Information System”, between the 10th and 43rd epidemiological weeks (EW) of 2020. Excess mortality was calculated by a time series model, considering observed deaths by EW, between 2015 and 2019, for census tracts. Mortality rates (MR) were calculated and age-standardized =using population estimates from 2010 census. Results: Excess mortality in BH was 16.1% (n =1524): 11.0%, 18.8% and 17.3% in the low, intermediate and high vulnerability areas, respectively. The differences between observed and expected age-standardized MR by natural causes were equal to 59/100,000 inhabitants in BH, increasing from 31 to 77 and 95/100,000 inhabitants, in the areas of low, intermediate and high vulnerability, respectively. There was an aging gradient in COVID-19 MR, ranging from 4 to 611/100,000 inhabitants among individuals of 20-39 years and 75+ years. The COVID-19 MR per 100,000 elderly (60+ years) was 292 in BH, increasing from 179 to 354 and 476, in the low, intermediate and high vulnerability areas, respectively. Conclusion: Inequalities in mortality, particularly among the elderly, combined with the limited supply of doses, demonstrate the importance of prioritizing socially vulnerable areas during vaccination against COVID-19.Objetivo: Avaliar a mortalidade por áreas de Belo Horizonte (BH) durante a pandemia de COVID-19 conforme vulnerabilidade social, visando estratégia de vacinação. Métodos: Estudo ecológico com análise de mortalidade, segundo setores censitários classificados pelo Índice de Vulnerabilidade da Saúde, composto por indicadores de saneamento e socioeconômicos. Óbitos por causas naturais e COVID-19 foram obtidos do Sistema de Informação sobre Mortalidade, entre a 10ª e 43ª semana epidemiológica (SE) de 2020. Calculou-se o excesso de mortalidade por modelo de série temporal, considerando as mortes observadas por SE, entre 2015 e 2019, por setor censitário. Taxas de mortalidade (TM) foram calculadas e padronizadas por idade a partir de estimativas populacionais do IBGE. Resultados: Houve 16,1% (n=1524) de excesso de mortalidade em BH: 11,0%, 18,8% e 17,3% nas áreas de baixa, média e elevada vulnerabilidade, respectivamente. As diferenças entre TM observadas e esperadas por causas naturais, padronizadas por idade, foi igual a 59/100.000 habitantes em BH, aumentando de 31 para 77 e 95/100.000, nas áreas de baixa, média e elevada vulnerabilidade, respectivamente. Houve gradiente de aumento com a idade nas TM por COVID-19, variando de 4 a 611/100.000 habitantes entre as idades de 20-39 anos e 75+ anos. A TM por COVID-19 por 100.000 idosos (60+ anos) foi igual a 292, aumentando de 179 para 354 e 476, nos setores de baixa, média e elevada vulnerabilidade, respectivamente. Conclusão: Desigualdades na mortalidade, mesmo entre idosos, aliadas à baixa oferta de doses, demonstram importância de priorizar áreas socialmente vulneráveis durante a vacinação contra COVID-19

Immunological profiles of patients from endemic areas infected with Schistosoma mansoni

Crude extracts of eggs (SEA) adult worms (SWAP) or cercariae (Cerc) have been used to stimulate Peripheral Blood Mononuclear cells (PBMC) and have provided rather distinct profiles of responses in different types of patients. In genenral it is clear that patients with early infections respond strongly to SEA while response to SWAP are developed more slowly. As infection progresses into the more chronic phases, a general pattern is seen whic leads to lower anti-SEA proliferative responses in the face of higher responses to SWAP and variable anti-cerc responsiveness. Cured not re-exposed patients express very high levels of anti-SEA proliferation. It has recently been seen that those individuals who live in endemic areas and have continued water contact, but are reapeatedly stool-negative (who are presumed to have self-cured or be putatively resistant; endemic normals) are strongly responsive to antigenic extracts, particularly to SEA. Furthermore, our results show that endemic normal individuals have significantly higher IFN gamma production upon PBMC stimulation with schistosome antigens than infected individuals. With the emergence of more studies it is becoming apparent that both the intensity and the prevalence of a given area may influence or shape the general responsiveness of the population under study

Antimicrobial resistance among migrants in Europe: a systematic review and meta-analysis

BACKGROUND: Rates of antimicrobial resistance (AMR) are rising globally and there is concern that increased migration is contributing to the burden of antibiotic resistance in Europe. However, the effect of migration on the burden of AMR in Europe has not yet been comprehensively examined. Therefore, we did a systematic review and meta-analysis to identify and synthesise data for AMR carriage or infection in migrants to Europe to examine differences in patterns of AMR across migrant groups and in different settings. METHODS: For this systematic review and meta-analysis, we searched MEDLINE, Embase, PubMed, and Scopus with no language restrictions from Jan 1, 2000, to Jan 18, 2017, for primary data from observational studies reporting antibacterial resistance in common bacterial pathogens among migrants to 21 European Union-15 and European Economic Area countries. To be eligible for inclusion, studies had to report data on carriage or infection with laboratory-confirmed antibiotic-resistant organisms in migrant populations. We extracted data from eligible studies and assessed quality using piloted, standardised forms. We did not examine drug resistance in tuberculosis and excluded articles solely reporting on this parameter. We also excluded articles in which migrant status was determined by ethnicity, country of birth of participants' parents, or was not defined, and articles in which data were not disaggregated by migrant status. Outcomes were carriage of or infection with antibiotic-resistant organisms. We used random-effects models to calculate the pooled prevalence of each outcome. The study protocol is registered with PROSPERO, number CRD42016043681. FINDINGS: We identified 2274 articles, of which 23 observational studies reporting on antibiotic resistance in 2319 migrants were included. The pooled prevalence of any AMR carriage or AMR infection in migrants was 25·4% (95% CI 19·1-31·8; I2 =98%), including meticillin-resistant Staphylococcus aureus (7·8%, 4·8-10·7; I2 =92%) and antibiotic-resistant Gram-negative bacteria (27·2%, 17·6-36·8; I2 =94%). The pooled prevalence of any AMR carriage or infection was higher in refugees and asylum seekers (33·0%, 18·3-47·6; I2 =98%) than in other migrant groups (6·6%, 1·8-11·3; I2 =92%). The pooled prevalence of antibiotic-resistant organisms was slightly higher in high-migrant community settings (33·1%, 11·1-55·1; I2 =96%) than in migrants in hospitals (24·3%, 16·1-32·6; I2 =98%). We did not find evidence of high rates of transmission of AMR from migrant to host populations. INTERPRETATION: Migrants are exposed to conditions favouring the emergence of drug resistance during transit and in host countries in Europe. Increased antibiotic resistance among refugees and asylum seekers and in high-migrant community settings (such as refugee camps and detention facilities) highlights the need for improved living conditions, access to health care, and initiatives to facilitate detection of and appropriate high-quality treatment for antibiotic-resistant infections during transit and in host countries. Protocols for the prevention and control of infection and for antibiotic surveillance need to be integrated in all aspects of health care, which should be accessible for all migrant groups, and should target determinants of AMR before, during, and after migration. FUNDING: UK National Institute for Health Research Imperial Biomedical Research Centre, Imperial College Healthcare Charity, the Wellcome Trust, and UK National Institute for Health Research Health Protection Research Unit in Healthcare-associated Infections and Antimictobial Resistance at Imperial College London

Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade

Age-associated B cells (ABC) accumulate with age and in individuals with different immunological disorders, including cancer patients treated with immune checkpoint blockade and those with inborn errors of immunity. Here, we investigate whether ABCs from different conditions are similar and how they impact the longitudinal level of the COVID-19 vaccine response. Single-cell RNA sequencing indicates that ABCs with distinct aetiologies have common transcriptional profiles and can be categorised according to their expression of immune genes, such as the autoimmune regulator (AIRE). Furthermore, higher baseline ABC frequency correlates with decreased levels of antigen-specific memory B cells and reduced neutralising capacity against SARS-CoV-2. ABCs express high levels of the inhibitory FcγRIIB receptor and are distinctive in their ability to bind immune complexes, which could contribute to diminish vaccine responses either directly, or indirectly via enhanced clearance of immune complexed-antigen. Expansion of ABCs may, therefore, serve as a biomarker identifying individuals at risk of suboptimal responses to vaccination