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Copyright of Czech Rheumatology / Česká Revmatologie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Lysosomal storage diseases (LSDs) form a group of more than 70 rare inherited metabolic diseases, usually caused by a malfunction of some of the lysosomal enzymes. The aim of this review is to introduce enzyme replacement therapy (ERT) which gained an indispensable role in the therapy of LSDs. ERT is based upon replacement of the defective enzyme by a recombinant protein administred in a 2-4 hour infusion once a week or once a fortnight. This therapy is currently available for seven LSDs: Gaucher disease, Fabry disease, Pompe disease and mucopolysaccharidoses I, II, IVA and VI. ERT significantly affects visceral manifestations of the diseases (hepatomegaly, splenomegaly, vital lung capacity, muscle weakness, anaemia, gastrointestinal disorders etc.), yet it is not effective in treating the central nervous system (CNS) involvement and only a small effect is observed in treating disease manifestations in bones, cartilage and heart valves. An immune reaction with clinical presentation of an allergic reaction and therapy effectiveness decrease can occur with a portion of patients. Other modalities for LSDs therapy are concisely mentioned: haematopoietic stem cell transplantation, substrate reduction therapy, chaperons and gene therapy. Conclusion: ERT slows the progression of the disease and markedly alters its natural course, improves quality of life and prolongs patients' lifespan. The limitations include insufficient effect in some tissues, possible allergic reactions and great financial demands. An essential presumption for effectiveness and success of ERT is its early initiation following quick diagnosis of the disease. [ABSTRACT FROM AUTHOR]

Este texto apresenta o relato reflexivo do projeto de formação continuada docente na rede municipal de educação de Belo Horizonte, entre 2015 e 2018, no campo das relações de gênero. A parceria entre a Secretaria Municipal de Educação e a Pontifícia Universidade Católica de Minas Gerais promoveu as condições necessárias para a realização e integração das atividades acadêmicas de extensão, ensino e pesquisa nos níveis da graduação e pós-graduação. Apesar do contexto político nacional das ofensivas antigênero no campo educacional, a demanda por ações formativas partiu de docentes e gestores/as da educação ao se depararem com os impactos das assimetrias na aprendizagem entre meninas e meninos, bem como situações de violência de gênero na escola. À luz dos pressupostos teóricos pós- estruturalistas de gênero, a formação utiliza metodologias diversificadas como grupos de estudo, seminários, oficinas pedagógicas e estudos de caso em diferentes espaços da cidade como escolas, universidade e museus. A análise dos quatro anos do projeto revela a importância de uma abordagem interdisciplinar das relações de gênero e de caráter permanente, pois ações formativas isoladas têm se mostrado ineficazes.

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

More than one quarter of 900 known inherited metabolic disorders (IMD) may manifest in the neonatal age. Their diagnostics is demanding. The correct and early diagnosis with subsequent therapy introduction may have a substantial impact on further prognosis of the child. Case reports of three children with manifestation of IMD in neonatal age and late diagnosis are presented. On contrary, assessment of early diagnosis saved favourable prognosis of the child with galactosemia and enabled the early introduction of adequate therapy in a child with alpha-1-antitrypsin deficit. The first girl with methymalonicaciduria manifested sepsis-like state with hyperventilation, consciousness disorder and seizures, severe metabolic acidosis and hyperam-monemia. The liver failure was the main symptom of the girl with galactosemia. The boy from the third case report with glycogenosis type Ib showed repeated hypoglycamiae. The leading symptom of mitochondrial disorder in the fourth newborn -- with ATP synthesis deficiency due to mutation in TMEM70 gene was the hypertrophic cardiomyopathy. The alpha-1-antitrypsin deficit was determined in the fifth boy with hepatopathy. The acute and life-threatening state typically occurs after period of relative health in acute intoxication type of IMD. The relations of ketonuria and significant metabolic acidosis or hyperammonemia are often present. The selective IMD screening or comprehensive metabolic investigation in the specialized center is indicated in case of suspicion on IMD based on clinical and laboratory signs. Early assessment of diagnosis of potentially treatable IMD plays an enourmous role in further prognosis of the child. [ABSTRACT FROM AUTHOR]

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Mucopolysaccharidosis I (MPS I) is severe metabolic storage disease caused by impaired function of α-L-iduronidase. The aim of this study is to describe clinical symptoms, natural course and to evaluate results of treatment in Czech and Slovak children with MPS I. Methods: Study group consists of 24 children from 23 families. In all children diagnosis of MPS I was confirmed on enzymatic level and in 22 children on molecular level. Results: First symptoms of disease - hepatosplenomegaly, craniofacial dysmorphy, corneal clouding and psychomotor delay - were observed in all patients. The most of them have macrocephaly (11/21) and skeletal changes - dysostosis multiplex (21/23). Cardiomyopathy with valves impairment (16/21), hearing impairment (9/18), joint stiffness (19/22) and carpal tunnel syndrome (7/23) belongs to later symptoms. All children had increased glycosaminoglycans excretion in urine and decreased activity of α-L-iduronidase in isolated leucocytes. Two mutations in gene α-L-iduronidase were prevalent, the mutation p.W402X was found in 9 and the mutation p.Q70X in 7 children. Hematopoietic stem cell transplantation (HSCT) was performed in 7 children, in 5 of them with good clinical result. 6 children with milder form of disease were treated by a long-lasting enzyme replacement therapy (ERT) with good therapeutic effect, but one patient died due to complication after neurosurgery intervention for compression of cervical spinal cord. The most of children without therapy died (7/11). Conclusion: Diagnostic of MPS I in early phases of disease improves prognosis, because correct therapy (HSCT or ERT) can be chosen. Prognosis for children with later diagnosis is very unfavourable. The advance diagnosis is very important also for prenatal diagnostic in affected families. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to measure the outcomes of a harmonised, structured pharmaceutical care programme provided to elderly patients (≥65 years of age) by community pharmacists in a multicentre international study performed in 7 European countries. Design and setting: The study was a randomised, controlled, longitudinal, clinical trial with repeated measures performed over an 18-month period. A total of 104 intervention and 86 control pharmacy sites participated in the research and 1290 intervention patients and 1164 control patients were recruited into the study. Main outcome measures and results: A general decline in health-related quality of life over time was observed in the pooled data; however, significant improvements were achieved in patients involved in the pharmaceutical care programme in some countries. Intervention patients reported better control of their medical conditions as a result of the study and cost savings associated with pharmaceutical care provision were observed in most countries. The new structured service was well accepted by intervention patients and patient satisfaction with the services improved during the study. The pharmacists involved in providing pharmaceutical care had a positive opinion on the new approach, as did the majority of general practitioners surveyed. The positive effects appear to have been achieved via social and psychosocial aspects of the intervention, such as the increased support provided by community pharmacists, rather than via biomedical mechanisms. Conclusions: This study is the first large-scale, multicentre study to investigate the effects of pharmaceutical care provision by community pharmacists to elderly patients. Future research methodology and implementation will be informed by the experience gained from this challenging trial. [ABSTRACT FROM AUTHOR]

Background: Vascular endothelial growth factor (VEGF) promotes angiogenesis and vascular permeability. The extent to which VEGF may cause tissue edema in humans has not been established.Objective: To evaluate patients undergoing VEGF gene transfer for evidence of lower-extremity edema.Design: Prospective consecutive case series.Setting: Hospital outpatient clinic.Patients: 62 patients with critical limb ischemia and 28 patients with claudication.Intervention: Gene transfer of VEGF DNA.Measurements: Semiquantitative analysis of lower-extremity edema.Results: Lower-extremity edema was observed in 31 of 90 (34%) patients. Edema was less common in patients with claudication than in those with pain at rest (P = 0.016) or ischemic ulcers (P < 0.001), and it was less common in patients with pain at rest than in those with ischemic ulcers (P= 0.017). Treatment was typically limited to a brief course of oral diuretics.Conclusions: Vascular endothelial growth factor may enhance vascular permeability in humans. At the doses of plasmid DNA used in this study, lower-extremity edema responded to oral diuretic therapy and did not seem to be associated with serious sequelae. [ABSTRACT FROM AUTHOR]