Hypertension as An Atypical Presentation of Unilateral Ureteral Obstruction

Ureteral obstruction (ureteropelvic or ureterovesical junction obstruction) is frequently diagnosed during the workup investigation of an asymptomatic infant or child with upper urinary tract dilatation, commonly identified in a prenatal ultrasound. In older children, recurrent lumbar pain is a red flag for ureteral obstruction. Although less frequent, hypertension may be the initial and only manifestation of ureteral obstruction. The authors present two pediatric cases of unilateral ureteral obstruction with hypertension, in which the surgical treatment of the obstruction leads to blood pressure normalisation. In all pediatric age groups, a systematic investigation for secondary causes of hypertension is of paramount importance. In some cases, especially those of an obstructive nature, early surgical management can be curative, with normalization of blood pressure levels and prevention of renal injury.info:eu-repo/semantics/publishedVersio

Tracing carbon assimilation in endosymbiotic deep-sea hydrothermal vent mytilid fatty acids by ¹³C-fingerprinting

Bathymodiolus azoricus mussels thrive at Mid-Atlantic Ridge hydrothermal vents, where part oftheir energy requirements are met via an endosymbiotic association with chemolithotrophic and methanotrophic bacteria. In an effort to describe phenotypic characteristics of the two bacterial endosymbionts and to assesstheir ability to assimilate CO2, CH4 and multi-carbon compounds, we performed experiments in aquaria using 13C-labeled NaHCO3 (in the presence of H2S), CH4 or amino-acids and traced the incorporation of 13C into total and phospholipid fatty acids (tFA and PLFA, respectively). 14:0; 15:0; 16:0; 16:1(n - 7)c+t; 18:1(n - 13)c+t and (n - 7)c+t; 20:1(n - 7); 20:2(n - 9,15); 18:3(n - 7) and (n - 5,10,13) PLFA were labeled in the presence of H13CO3- (+H2S) and 13CH4, while the 12:0 compound became labeled only in the presence ofH13CO3- (+H2S). In contrast, the 17:0; 18:0; 16:1(n - 9); 16:1(n - 8) and (n - 6); 18:1(n - 8); and 18:2(n - 7) PLFA were only labeled in the presence of 13CH4. Some of these symbiont-specific fatty acids also appeared to be labeled in mussel gill tFA when incubated with 13C-enriched amino acids, and so were mussel-specific fatty acids such as 22:2(n - 7,15). Our results provide experimental evidence for the potential of specific fatty acid markers to distinguish between the two endosymbiotic bacteria, shedding new light on C1 and multi-carbon compound metabolic pathways in B. azoricus and its symbionts

Influenza B-Associated Atypical Hemolytic Uremic Syndrome

Introduction: Influenza A infections have been described to cause secondary hemolytic uremic syndrome and to trigger atypical hemolytic uremic syndrome (aHUS) in individuals with an underlying genetic complement dysregulation. To date, Influenza B has only been reported to trigger aHUS in 2 patients. In 61% of aHUS cases, mutations are found in H, B and I factors, membrane cofactor protein (MCP), C3 and thrombomodulin. MCP (CD46) mutations account for 10-15% of cases. Clinical Case: A 13-year-old boy was transferred to a terciary pediatric centre with acute renal lesion in the context of HUS. Evidence was found for Influenza B infection and results for other etiologic agents were negative. He was treated with Oseltamivir for 5 days. Etiologic study revealed decreased C ́3 (0,81 g/L), normal C ́4 (0,27 g/L) and all antibodies were negative: anti-Beta2 GP1 IgG / IgM, anti-cardiolipine IgG / IgM, anti-neutrophil-citoplasm-PR3 and MPO. Alternate complement pathway study (AH 50) were 112 % of normal value (reference value >70%) and ADAMTS 13 activity were 0.79 (values above 0.67 may be found in aSHU as well as other microangiopathic trombopathies). Molecular study of complement including 11 genes (CFH, CD46 (MCP), CFI, C3, THBD, CFB,CFHR5, CFHR1 CFHR3, CFHR4, DGKE) found a pathogenic heterozygotic missense variant on CD46 (MCP) gene, c.554A>G, p.Asp185Gly, associated with aHUS. Conclusions: aHUS patients should be screened for all known disease-associated genes. Screening should not be stopped after finding a mutation to avoid missing other genetic susceptibility factors influencing disease phenotype, particularly in patients with MCP or CFI mutations, because they have a higher probability of also carrying mutation in another gene than patients with CFHor C3 mutations. Influenza B is a trigger for aHUS and might be underreported as such. Influenza vaccination may protect patients at risk.info:eu-repo/semantics/publishedVersio

Atividade da fosfatase ácida, uréase e micorrizas em uma área de vegetação secundária de Paragominas, Estado do Pará, dois anos após adubação com nitrogênio e fósforo.

Resumo 28.9-P

Ciliopatias – Experiência de uma Unidade de Nefrologia Pediátrica de um Hospital Terciário

Introdução: As ciliopatias constituem um grupo de doenças associadas a mutações genéticas que condicionam alterações na estrutura e função dos cílios. A disfunção ciliar pode manifestar-se com doença renal, degeneração retiniana e anomalias cerebrais. Outras manifestações menos frequentes são a doença fibroquística congénita do fígado, diabetes, obesidade e displasia óssea. Objetivo: Caracterizar os casos de ciliopatias seguidos na Unidade de Nefrologia Pediátrica de um Hospital Terciário, nos últimos 10 anos. Resultados: No período em estudo (Janeiro de 2008 a Dezembro de 2017) foram seguidos na Unidade de Nefrologia Pediátrica 8 doentes com ciliopatias; 62,5 % do sexo feminino, 7 doentes de nacionalidade portuguesa e 1 natural do Paquistão. No momento do diagnóstico 2 doentes tinham função renal normal e 6 doença renal crónica (DRC): 1 DRC estadio III, 1 DRC estadio IV e 4 (50%) DRC estadio V; destes 4 realizaram diálise peritoneal e 1 hemodiálise, sendo 4 já submetidos a transplante renal. Dois doentes têm estudo genético concluído, ambos com mutação no gene NPHP1, um deles com Síndrome de Senior Loken. Um doente apresenta Síndrome de Alström e 1 doente apresenta Síndrome de Joubert. Foram submetidos a biópsia renal 5 doentes, todos com alterações compatíveis com nefronoptisis. Conclusões: As ciliopatias constituem um grupo heterogéneo de doenças, com atingimento renal variável e com possível progressão para insuficiência renal crónica. Muitos casos apenas são diagnosticados em estadios avançados de doença renal, pela indolência da progressão da patologia. Salienta-se a necessidade de um elevado grau de suspeição, nomeadamente quando existe atingimento multissistémico (ocular, neurológico, esquelético ou endocrinológico). Nos casos com atingimento primordial renal, é muito frequente a anemia grave e a poliúria/polidipsia severas, que poderão também constituir orientações para o diagnóstico. Quando há envolvimento renal ligeiro, torna-se essencial manter a vigilância clínica e laboratorial, pelo potencial de evolução para DRC.info:eu-repo/semantics/publishedVersio

Everolimus no Tratamento da Esclerose Tuberosa

Introdução: A esclerose tuberosa (ET) é um distúrbio genético que atinge vários processos celulares, resultando numa variedade de lesões hamartomatosas que podem afetar qualquer órgão. O envolvimento renal constitui a segunda causa de morte prematura, sendo os angiomiolipomas (AML) a alteração mais frequente (70-80% dos doentes) e cuja sintomatologia está diretamente relacionada com as dimensões dos AML. Descrição do caso: Adolescente de 16 anos, com antecedentes familiares de ET e suspeita pré-natal da doença, cumprindo critérios diagnósticos no período neonatal precoce (rabdomiomas cardíacos, lesões quísticas renais, hamartomas subependimários e displasia cortical temporo-occipital). Evolução progressiva da doença, com envolvimento neurológico (espasmos infantis aos 4 meses, com evolução para epilepsia focal temporal esquerda), oftalmológico (facomas identificados aos 6 meses), renal (HTA desde os 6 meses; aumento do número e dimensões dos quistos/AML e doença renal crónica (DRC) progressiva, atualmente com TFG de 11.5 ml/min/1.73m2) e cutâneo (angiofibromas, placas moluscóides planas e manchas acrómicas). Acompanhado em consulta de Nefrologia Pediátrica em hospital terciário desde há 1.5 anos, tendo sido medicado com everolimus sistémico que cumpre diariamente há 9 meses, com resposta positiva a nível neurológico, cutâneo e renal (redução de cerca de 33% das dimensões dos AML na ressonância magnética de controlo aos 6 meses de terapêutica), embora sem recuperação da função renal, necessitando de técnica dialítica. Discussão: O envolvimento renal pode evoluir para DRC terminal por destruição do parênquima renal, substituído por AML. A terapêutica com everolimus pode retardar a progressão da doença, reduzindo significativamente as dimensões dos AML renais (35-58% dos casos), estabilizando a função renal e reduzindo a probabilidade de desenvolver sintomatologia e/ou complicações, com benefício também para outros órgãos, nomeadamente na redução de convulsões e na melhoria das lesões cutâneas. Os critérios para início do fármaco estão bem definidos e a sua introdução não deve ser adiada. Neste caso, com diagnóstico muito precoce, o fármaco foi iniciado tardiamente, numa fase já quase sem reserva de parênquima renal, o que não permitiu recuperar a sua função, apesar da redução significativa das dimensões dos AML.info:eu-repo/semantics/publishedVersio

Role of alpha-1 antitrypsin genotypes in the progression of adult liver disease

info:eu-repo/semantics/publishedVersio

High-throughput sequencing and analysis of the gill tissue transcriptome from the deep-sea hydrothermal vent mussel Bathymodiolus azoricus

© The Authors, 2010. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in BMC Genomics 11 (2010): 559, doi:10.1186/1471-2164-11-559.Bathymodiolus azoricus is a deep-sea hydrothermal vent mussel found in association with large faunal communities living in chemosynthetic environments at the bottom of the sea floor near the Azores Islands. Investigation of the exceptional physiological reactions that vent mussels have adopted in their habitat, including responses to environmental microbes, remains a difficult challenge for deep-sea biologists. In an attempt to reveal genes potentially involved in the deep-sea mussel innate immunity we carried out a high-throughput sequence analysis of freshly collected B. azoricus transcriptome using gills tissues as the primary source of immune transcripts given its strategic role in filtering the surrounding waterborne potentially infectious microorganisms. Additionally, a substantial EST data set was produced and from which a comprehensive collection of genes coding for putative proteins was organized in a dedicated database, "DeepSeaVent" the first deep-sea vent animal transcriptome database based on the 454 pyrosequencing technology. A normalized cDNA library from gills tissue was sequenced in a full 454 GS-FLX run, producing 778,996 sequencing reads. Assembly of the high quality reads resulted in 75,407 contigs of which 3,071 were singletons. A total of 39,425 transcripts were conceptually translated into amino-sequences of which 22,023 matched known proteins in the NCBI non-redundant protein database, 15,839 revealed conserved protein domains through InterPro functional classification and 9,584 were assigned with Gene Ontology terms. Queries conducted within the database enabled the identification of genes putatively involved in immune and inflammatory reactions which had not been previously evidenced in the vent mussel. Their physical counterpart was confirmed by semi-quantitative quantitative Reverse-Transcription-Polymerase Chain Reactions (RT-PCR) and their RNA transcription level by quantitative PCR (qPCR) experiments. We have established the first tissue transcriptional analysis of a deep-sea hydrothermal vent animal and generated a searchable catalog of genes that provides a direct method of identifying and retrieving vast numbers of novel coding sequences which can be applied in gene expression profiling experiments from a non-conventional model organism. This provides the most comprehensive sequence resource for identifying novel genes currently available for a deep-sea vent organism, in particular, genes putatively involved in immune and inflammatory reactions in vent mussels. The characterization of the B. azoricus transcriptome will facilitate research into biological processes underlying physiological adaptations to hydrothermal vent environments and will provide a basis for expanding our understanding of genes putatively involved in adaptations processes during post-capture long term acclimatization experiments, at "sea-level" conditions, using B. azoricus as a model organism.We acknowledge the Portuguese Foundation for Science and Technology, FCT-Lisbon and the Regional Azorean Directorate for Science and Technology, DRCT-Azores, for pluri-annual and programmatic PIDDAC and FEDER funding to IMAR/DOP Research Unit #531 and the Associated Laboratory #9 (ISR-Lisboa); the Luso-American Foundation FLAD (Project L-V- 173/2006); the Biotechnology and Biomedicine Institute of the Azores (IBBA), project M.2.1.2/I/029/2008-BIODEEPSEA and the project n° FCOMP-01-0124- FEDER-007376 (ref: FCT PTDC/MAR/65991/2006-IMUNOVENT; coordinated by RB) under the auspices of the COMPETE program