Floor muscles contraction in women with stress urinary incontinence underwent to exercisesand electric stimulation therapy: a randomized study

The study sought to determine the effect of perineal exercises (EP) associated with electric stimulation in women with effort-related urinary incontinence (SUI) in relation to the pelvic floor muscles contraction (PMEs). The methodology utilized was longitudinal of the experimental type. The sample was made of 71 women diagnosed with SUI and divided into three groups: electrical stimulation associated with exercise alone (GEE, n=24), exercises exclusively (GE, n=25) and control (GC, n=22). In the experimental groups were held 12 sessions, lasting 20 minutes each, with a frequency of 2 times a week. The contraction of the PFMs was measured through the functional assessment of the pelvic floor (FPA) and perineometer (PERI) pre and post intervention. The results showed improvement in PFM contraction for both GEE and GE groups if compared to the GC the average of AFA (fibers I and II) and PERI (fibers I): AFA FI (∆%=11.99; pO estudo avaliou o efeito dos exercícios perineais (EP) associados ou não à eletroterapia em mulheres com incontinência urinária de esforço (IUE) quanto à contração dos músculos do assoalho pélvico (MAP). Estudo longitudinal, do tipo experimental. Amostra composta por 71 mulheres com diagnóstico clínico de IUE divididas em três grupos: eletroterapia associada a exercícios (GEE, n=24), exercícios exclusivamente (GE, n=25) e controle (GC, n=22). Nos grupos experimentais foram realizadas 12 sessões com duração de 20 minutos cada e frequência de 2 vezes por semana. Mensurou-se a contração dos MAP por meio da avaliação funcional do assoalho pélvico (AFA) e perineômetro (PERI) pré e pós-intervenção. Os resultados apontam melhora da contração dos MAP para os grupos GEE e GE em relação ao GC conforme as médias de AFA (fibras I e II) e PERI (fibras I): AFA F I (∆%=11,99;

Mucopolysaccharidoses in northern Brazil : targeted mutation screening and urinary glicosaminoglycan excretion in patients undergoing enzyme replacement therapy

Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients’ clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers

The Skin Secretion of the Amphibian Phyllomedusa nordestina: A Source of Antimicrobial and Antiprotozoal Peptides

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Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy

Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives' data from consecutive families with genetic or pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated. In 370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood-onset subtype, representing 21% of families. Five percent of families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related patients with truncating variants had earlier disease onset and more severe progression to handicap than patients without truncating variants. We have provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field964341353The authors are grateful to patients and their families for participationin this study and professionals who also attended these individuals,but were not directly involved in this research project. We also thankSanofi-Genzyme who supported genetic diagnosis investigations atsome centers. The study was funded by Fundo de Incentivo à Pes-quisa e Eventos-HCPA (Grant Number: 17-0340) and by researchgrant from PTC-Therapeutics. Bená MI received support fromConselho Nacional de Desenvolvimento Cientifico e Tecnológico(Grant Number: 134351/2015-0

Estruturas secretoras em cipó-d'alho (Mansoa standleyi (Steyerm.) A. H. Gentry, Bignoniaceae): ocorrência e morfologia Secretory structures in cipó-d'alho (Mansoa standleyi (Steyerm.) A. H. Gentry, Bignoniaceae): occurrence and morphology

Espécies de Mansoa são denominadas de "cipó-d'alho", por exalarem odor de alho das partes vegetativas e reprodutivas. Contudo, dados sobre morfologia e distribuição das estruturas secretoras presentes em Mansoa são escassos e ausentes para M. standleyi. O presente trabalho objetivou caracterizar a ocorrência e morfologia das estruturas secretoras do eixo vegetativo aéreo de M. standleyi. Para tanto, amostras da lâmina foliolar e de regiões nodais foram fixadas e submetidas às técnicas histológicas e de microscopia eletrônica de varredura. Testes histoquímicos, com os respectivos controles foram aplicados nas estruturas secretoras em fase secretora. Indivíduos de formigas e moscas, que visitavam a espécie foram amostrados, preservados e identificados por entomólogo. As estruturas secretoras do eixo vegetativo aéreo de M. standleyi estão representadas por tricomas glandulares dos tipos pateliformes e peltados. Todos com desenvolvimento assincrônico e presentes nas regiões nodais e lâmina foliolar, principalmente nas partes mais jovens. Nas regiões nodais, os tricomas formam um complexo secretor e, na lâmina foliolar, estão dispersos. As análises histoquímicas revelaram que os tricomas pateliformes são de fato nectários extraflorais e que os tricomas peltados, apresentam uma fração de alcaloides. Os visitantes das glândulas nodais correspondem a formigas Crematogaster (Formicidae) e Ectatomma brunea (Vespoidea, Formicidae) e moscas Oxysarcodexia (Sarcophagidae, subfamília Utitidae (Ulidiidae). Mansoa standleyi possui as estruturas secretoras do eixo vegetativo aéreo semelhantes às citadas pela literatura para Bignoniaceae, sendo esta a primeira vez, que um nectário extrafloral é descrito para a espécie.<br>Species of Mansoa are called "cipó-d'alho" because of the smell of garlic that wafts from their vegetative and reproductive parts. Since data on the morphology and occurrence of their secretory structures are scarce and even absent for M. standleyi, the present work characterizes the distribution and morphology of such structures in the vegetative aerial axis of the latter. To do so, samples of the leaf blade and of nodal regions were fixed and examined using histological and scanning electron microscope techniques. Histochemical tests with appropriate controls were carried out on the secretory structures during the secretory phase. Fly and ant individuals that visit the species were sampled, preserved and identified by an entomologist. The secretory structures of the vegetative aerial axis of M. standleyi are peltate and patelliform glandular trichomes. All develop asynchronously and are present in the nodal regions and leaf blade, mainly in their youngest parts. Trichomes form a secretory complex in the nodal regions while they are scattered in the leaf blade. Histochemical analyses revealed that the cupulate and patelliform trichomes are extrafloral nectaries and that the peltate ones present an alkaloid fraction. The visitors of the nodal glands are ants Crematogaster (Formicidae) and Ectatomma brunea (Vespoidea, Formicidae) and flies Oxysarcodexia (Sarcophagidae, subfamily Utitidae [Ulidiidae]). The secretory structures of the vegetative aerial axis of Mansoa standleyi are similar to those reported for Bignoniaceae. An extrafloral nectary is described for M. standleyi for the first time