Effect of One Year of Cryopreservation on the Activity of Lysosomal Hydrolases from EBV-Transformed Lymphocytes

Background. The Epstein-Barr virus (EBV) was used as an agent of B lymphocyte proliferation for subsequent diagnosis of lysosomal storage disease. Due to the constant handling of long-preserved samples in our cell bank, we decided to observe the behavior and then compare cultured and frozen samples for at least one year's cryopreservation. Methods. Twenty-five samples from healthy individuals were used to assess the possible changes in activity of enzymes β-galactosidase, β-glucosidase, α-iduronidase, α-galactosidase, and α-glucosidase. Transmission electron microscopy was used to confirm cell transformation of B lymphocytes into EBV-infected cells, generating lymphoblastoid cell lines. Results. Transmission electron microscopy findings confirmed previous reports in the literature that is, significant and evident morphological changes in the nucleus occur after day 12 and the consequent cell transformation into EBV-infected cells. After thawing and subsequent treatment with the five enzymes utilized, we observed no significant changes in samples cryopreserved for more than one year, as compared to samples cultured for 12 days

Diagnosing mucopolysaccharidosis IVA

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process

Percepção das Sogras sobre o Relacionamento com a Nora: Fatores Associados

Throughout the lifecycle, women play many roles in the family. As mothers-in-law, these women face many challenges. When the relationship between mother-in-law and daughter-in-law presents strong conflicts, family crises and disruptions can be triggered, compromising mental health and quality of life of the families involved. The goal of this study was to investigate the relationship mother x daughterin- law as perceived under the optics of the mother-in-law. Participated in the study 175 mothers-in-law living in Porto Alegre, RS. Participants were invited to answer a questionnaire with open and closed questions. Results showed that 79% of mothers-in-law evaluated as “good” their relationship with their daughterin- law. Mothers-in-law with higher income and higher education level showed a higher negative perception in relation to their daughters-in law (p<0,05). No significant association was found between financial support and grandchildren´s care. This study points out the necessity of more studies with the population sample in order to better investigate these associations.Ao longo da vida, a mulher desempenha inúmeros papéis dentro da família. No papel de sogra, muitos desafios são acionados. Quando o relacionamento entre sogra e nora é conflituoso, crises familiares e rompimentos vinculares podem ser desencadeados, comprometendo a saúde mental e a qualidade de vida das famílias envolvidas. O objetivo deste estudo foi investigar a percepção do relacionamento sogra/nora, sob a ótica da sogra. Participaram do estudo 175 sogras residentes em Porto Alegre, RS. As participantes responderam a questionários com questões abertas e fechadas. Os resultados mostraram que 79% das sogras avaliaram como boa sua relação com a nora. As sogras com maior renda e maior nível educacional apresentaram maior percentual de percepção negativa em relação a suas noras (p<005). Não foi encontrada associação significativa entre suporte financeiro e cuidado dos netos. Os dados sugerem a necessidade de mais estudos com amostra populacional para investigar melhor estas associações

Health status in COPD cannot be measured by the St George's Respiratory Questionnaire alone: an evaluation of the underlying concepts of this questionnaire

Contains fulltext : 88421.pdf (publisher's version ) (Open Access)BACKGROUND: Improving patients' health status is one of the major goals in COPD treatment. Questionnaires could facilitate the guidance of patient-tailored disease management by exploring which aspects of health status are problematic, and which aspects are not. Health status consists of four main domains (physiological functioning, symptoms, functional impairment, and quality of life), and at least sixteen sub-domains. A prerequisite for patient-tailored treatment is a detailed assessment of all these sub-domains. Most questionnaires developed to measure health status consist of one or a few subscales and measure merely some aspects of health status. The question then rises which aspects of health status are measured by these instruments, and which aspects are not covered. As it is one of the most frequently used questionnaires in COPD, we evaluated which aspects of health status are measured and which aspects are not measured by the St George's Respiratory Questionnaire (SGRQ). METHODS: One hundred and forty-six outpatients with COPD participated. Correlations were calculated between the three sections of the SGRQ and ten sub-domains of the Nijmegen Integral Assessment Framework, covering Symptoms, Functional Impairment, and Quality of Life. As the SGRQ was not expected to measure physiological functioning, we did not include this main domain in the statistical analyses. Pearson's r > or = 0.70 was used as criterion for conceptual similarity. RESULTS: The SGRQ sections Symptoms and Total showed conceptual similarity with the sub-domain Subjective Symptoms (main domain Symptoms). The sections Activity, Impacts and Total were conceptual similar to Subjective Impairment (main domain Functional Impairment). The SGRQ sections were not conceptual similar to other sub-domains of Symptoms, Functional Impairment, nor to any sub-domain of Quality of Life. CONCLUSIONS: The SGRQ could facilitate the guidance of disease management in COPD only partially. The SGRQ is appropriately only for measuring problems in the sub-domains Subjective Symptoms and Subjective Impairment, and not for measuring problems in other sub-domains of health status, such as Quality of Life

Comparison between the disease-specific Airways Questionnaire 20 and the generic 15D instruments in COPD

<p>Abstract</p> <p>Background</p> <p>Given that the assessment of health-related quality of life (HRQoL) is an essential outcome measure to optimize chronic obstructive pulmonary disease (COPD) patient management, there is a need for a short and fast, reliable and valid instrument for routine use in clinical practice. The objective of this study was to analyse the relationship between the disease-specific Airways questionnaire (AQ20) and the generic 15D health-related quality of life (HRQoL) instrument simultaneously in a large cohort of patients with COPD. We also compare the HRQoL of COPD patients with that of the general population.</p> <p>Methods</p> <p>The AQ20 and 15D were administered to 739 COPD patients representing an unselected hospital-based COPD population. The completion rates and validity of, and correlations among the questions and dimension scores were examined. A factor analysis with varimax rotation was performed in order to find subsets of highly correlating items of the questionnaires.</p> <p>Results</p> <p>The summary scores of AQ20 and 15D were highly correlated (r = - 0.71, p < 0.01). In AQ20 over 50% of patients reported frequent cough, breathlessness during domestic work, and chest problem limiting their full enjoyment of life. 15D results showed a noteworthy decrease of HRQoL in breathing, mobility, sleeping, usual activities, discomfort and symptoms, vitality, and sexual activity (scores ≤ 0.75). Compared to the age- and gender-standardized Finnish general population, the COPD patients were statistically significantly worse off on 13 of 15 dimensions.</p> <p>Conclusions</p> <p>The AQ20 and 15D summary scores are comparable in terms of measuring HRQoL in COPD patients. The data support the validity of 15D to measure the quality of life in COPD. COPD compromises the HRQoL broadly, as reflected by the generic instrument. Both questionnaires are simple and short, and could easily be used in clinical practice with high completion rates.</p