Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins. A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of NKH patients. We performed mutation analysis of the complete coding sequence of the GLDC gene in 28 unrelated patients with neonatal NKH using denaturing high-performance liquid chromatography (DHPLC) and sequencing. Forty different gene alterations were identified, confirming the large molecular heterogeneity of the GLDC gene. Eighteen alterations were clearly disease-causing: two large deletions, four one-base deletions (c.28delC, c.1175delC, c.2186delC, c.2422delA), one 1-base insertion (c.1002_1003insT), one 4-base insertion (c.1285_1286insCAAA), one insertion/deletion (c.2153_2155delinsTCCTGGTTTA), five nonsense mutations (p.E153X, p.R236X, p.E270X, p.R337X, p.R424X) and four splice site mutations (c.861+1G > T, c.1402-1C > G, c.2316-1G > A, c.2919+1G > A). Additionally, we identified one intronic mutation outside the consensus splice sites (c.2838+5G > A) and 21 nucleotide substitutions leading to amino acid change (including three previously described mutations: p.T269M, p.R461Q, p.G771R), the pathogenicity of which should be confirmed by expression studies (p.S132W, p.Y138F, p.G171A, p.T187K, p.R212K, p.T269M, p.R373W, p.I440N, p.R461Q, p.N533Y, p.C644F, p.H651R, p.V705M, p.N732K, p.G771R, p.H775R, p.T830M, p.A841P, p.D880V, p.S957P and p.R966G). Mutation analysis allowed us to identify sequence alterations in both alleles for 19 patients and in one allele for 7 patients One patient was carrying three mutations (p.Y138F, p.T269M and p.E153X) and one patient was carrying two amino acid substitutions on the same allele (p.V705M and p.R212K) and an unidentified mutation on the other allele. No mutation could be found in two patients, suggesting possible defects in the H-protein or gene alterations that could not be identified by our technique. The potential use of genotype determination for prenatal diagnosis is emphasized.

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Leishmaniasis is caused by protozoa of the Leishmania genus, which is divided into subgenus Viannia and Leishmania. In humans, the course of infection largely depends on the host-parasite relationship and primarily of the infective species. The objective of the present study was to design specific primers to the identification of Leishmania species using multiplex PCR. Four primers were designed, based on the GenBank sequences of the kDNA minicircle, amplifying 127 bp for subgenus Viannia, 100 bp for L. amazonensis, and 60 bp for Leishmania donovani complex and L. major. None of the primers amplified Trypanosoma cruzi or L. mexicana. The limit of detection of multiplex PCR was 2 × 10 parasites for L. braziliensis, 2 x 10 parasites for L. amazonensis, and 1.4 × 10 parasites for L. infantum. The high sensitivity of multiplex PCR was confirmed by the detection of parasites in different biological samples, including lesion scrapings, spleen imprinting of a hamster, sandflies, and blood. The multiplex PCR that was developed herein presented good performance with regard to detecting and identifying the parasite in different biological samples and may thus be useful for diagnosis, decision making with regard to the proper therapeutic approach, and determining the geographic distribution of Leishmania species.

Introduction: Cutaneous leishmaniasis (CL) is a serious and global public health issue, with the potential of developing a mucosal form, occurring as subclinical cases, and showing recurrence despite previous treatment. Methods: Polymorphonuclear and mononuclear DNA obtained from 49 patients was subjected to polymerase chain reaction for detection of Leishmania (Viannia). Results: DNA was detected in mononuclear cells from two patients with active primary lesions positive for CL, with infection periods of 3 and 6 months, respectively. Conclusions: The DNA of Leishmania (Viannia) indicates probable parasite dissemination possibly explaining subclinical case emergence, lesion recurrence, and mucosal lesion appearance.

RESUMO:A doença de Parkinson (DP) é um transtorno neurodegenerativo progressivo do sistema nervoso central, caracterizado clinicamente por tremor de repouso, rigidez, bradicinesia, instabilidade postural e distúrbios da marcha, apresentando também manifestações não motoras como depressão, distúrbios autonômicos e demência. Essas manifestações causam declínio funcional, dificultando a execução das atividades de vida diária e resultando em diminuição da independência física e da qualidade de vida. O objetivo deste trabalho foi verificar a influência dos tratamentos complementares, como fisioterapia, hidroterapia e fonoaudiologia na qualidade de vida de pessoas vivendo com doença de Parkinson residentes em Maringá e região. Para o estudo foi aplicado questionário contendo dados sócio-demográficos e de hábitos de vida e o instrumento Parkinson's Disease Questionnaire PDQ-39 para avaliar a qualidade de vida. Das pessoas entrevistadas, a maioria era mulheres (55,0%), maiores de 60 anos (60,0%), com 8 a 12 anos de estudo (40%). A maioria convive com a doença há menos de dez anos (55%), sendo que 70% do total de entrevistados realizam exercícios físicos, grande parte tendo começado a realizar os exercícios há menos de 10 anos (79%). Foi constatado que os pacientes que fazem tratamento com fisioterapia, hidroterapia e fonoaudiologia, quando comparados aos que não fazem, têm melhor qualidade de vida. Ficou clara a participação positiva da atividade física para o bem-estar das pessoas com DP. PALAVRAS-CHAVE: