Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. Methods We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the “MPS Brazil Network” who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. Results The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. Conclusions This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.

ResumoDiferentes fitofisionomias influenciam a partição das chuvas pela floresta. O objetivo deste estudo foi quantificar a precipitação interna e estimar a interceptação em Floresta Ombrófila Mista Alto-Montana no Parque Estadual de Campos do Jordão, SP. Para tanto, 30 pluviômetros foram instalados sob o dossel em uma parcela de 600 m 2 e 3 pluviômetros foram alocados em área aberta adjacente. O escoamento pelo tronco não foi medido. As medições foram realizadas diariamente, entre 22 de dezembro de 2013 e 21 de dezembro de 2014. A precipitação no aberto no período somou 1.055 mm em 112 dias de coletas, a precipitação interna contabilizou 907,3 mm e a floresta interceptou 147,7 mm. Esses valores correspondem, em média, a 86% de precipitação interna e 14% de interceptação do total precipitado. A precipitação interna foi maior que a precipitação fora da floresta em 16 eventos, com 6,3% de interceptação negativa em agosto. A precipitação interna e a precipitação no aberto se relacionam por meio de uma regressão linear simples com coeficiente de determinação (R 2 ) superior a 90%, tanto para o período chuvoso como para o período seco. Palavras-chave: Partição das chuvas; precipitação pluviométrica; precipitação interna. , and 3 gauges were placed in open area next to it. The stemflow was not measured. Measurements were made every day between 22 December 2013 and 21 December 2014. The gross precipitation in the period amounted to 1,055 mm in 112 days of collection, the throughfall recorded 907.3 mm and 147.7 mm was intercepted by forest. These values correspond, on average, 86% of throughfall and 14% of rainfall interception of the precipitation. Throughfall was greater than the gross precipitation in 16 events, with 6.3% of negative interception in August. Throughfall and gross precipitation are related by a simple linear regression with coefficient of determination greater than 90% for both the rainy and dry seasons. Keywords: Partition of rain; gross precipitation; throughfall. Abstract Rainfall interception through canopies of high montane mixed ombrophilous forest in Campos do INTRODUÇÃOA ciclagem da água envolve a evaporação, o transporte de vapor na atmosfera, a condensação, a precipitação e o escoamento terrestre. Fatores abióticos e bióticos interferem diretamente no ciclo, e fitofisionomias distintas influenciam no recebimento e na repartição das precipitações (BARRY;CHORLEY, 2013). Pelo fato da cobertura vegetal reter parte da água da chuva que evapora e retorna à atmosfera, esse processo é denominado interceptação. A precipitação interna ou transprecipitação se dá pelas gotas que atravessam diretamente o dossel e pelo gotejamento proveniente da saturação das folhas, ramos e epífitas. Outra fração atinge o piso florestal pelo fuste das árvores e dos arbustos; processo denominado escoamento pelo tronco. A precipitação efetiva é a soma dos dois últimos fluxos hídricos (ARCOVA et al., 2003).Lima (1976) desenvolveu um dos primeiros trabalhos no Brasil sobre a redistribuição das chuvas pela floresta, estudando ...

Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease in which the activities of all sulfatases are reduced; its estimated prevalence is 1:1.4 million births. The disease is caused by mutations in SUMF1, which encodes an enzyme involved in the post-translational modification of sulfatases. The MSD phenotype is a combination of the clinical features found in diseases resulting from a deficiency of the individual sulfatases; i.e., mucopolysaccharidosis II, IIIA, IIID, IVA and VI, metachromatic leukodystrophy, X-linked ichthyosis, and the X-linked recessive form of chondrodysplasia punctata. We describe herein the first case of a Brazilian patient with MSD. The case was initially diagnosed as having mucopolysaccharidosis (MPS), due to skeletal alterations, coarse facial features, and urinary excretion of dermatan sulfate and heparan sulfate. Later, after a detailed biochemical investigation, the diagnosis of MSD was established. The analysis of the SUMF1 showed the patient was a compound heterozygote for two novel mutations (p.R349G and p.F244S). This case illustrates the challenges in the diagnosis of a disease considered rare, such as MSD. We point out that the availability of therapy for certain MPS disorders necessitates correct disease assignment, and the need to exclude the likelihood of MSD.

Analisar a relação entre o depósito de gordura abdominal e a hiperlordose lombar em adolescentes e adultos jovens do sexo masculino. Os participantes foram submetidos a avaliação antropométrica, análise postural da curvatura da coluna lombar, e exame ultrassonográfico para determinação da gordura abdominal. As médias da circunferência abdominal e da quantidade de gordura visceral foram maiores no GHL (Grupo Hiperlordose) do que no GL (Grupo Lordose). Porém, em relação à gordura subcutânea não houve diferença estatisticamente significativa entre os grupos. No GHL foi observado que quanto maior a circunferência abdominal e a gordura visceral, maior a profundidade da coluna lombar.

Background: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. Methods: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the “MPS Brazil Network” who were known to be alive in 2020 in Brazil (N=13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population.Results: The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant.Conclusions: This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including broad spectrum of severity and delayed diagnosis.