J/psi Production and Absorption in High Energy Proton-Nucleus Collisions

Measured J/Psi production cross sections for 200 and 450 GeV/c protons incident on a variety of nuclear targets are analyzed within a Glauber framework which takes into account energy loss of the beam proton, the time delay of particle production due to quantum coherence, and absorption of the J/Psi on nucleons. The best representation is obtained for a coherence time of 0.5 fm/c, previously determined by Drell-Yan production in proton-nucleus collisions, and an absorption cross section of 3.6 mb, which is consistent with the value deduced from photoproduction of the J/Psi on nuclear targets.Comment: LaTeX2e, 7 pages, 4 PS figures. Typos removed, minor change

Epilepsy in mucopolysaccharidosis disorders

Abstract The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic manifestations, including short stature, musculoskeletal abnormalities, and cardiorespiratory dysfunction, and several primary and secondary neurological signs and symptoms. Epileptic seizures are neurological signs of MPS thought to develop due to accumulation of GAGs in the brain, triggering alterations in neuronal connectivity and signaling, and release of inflammatory mediators. The amount of literature on the prevalence, pathophysiology, clinical features, and management of epileptic seizures in patients with MPS is limited. This review discusses current knowledge on this topic, as well as two case examples, presented and discussed during a closed meeting on MPS and the brain among an international group of experts with extensive experience in managing and treating MPS

Obsessive-compulsive disorder in a patient with SCA type 1

For many years, the cerebellum was thought to be only responsible for balance, movement, planning and execution. Nowadays, it is well accepted that most cerebellar connections are involved in non-motor functions. Herein, we provide a case report in which a 27-year- -old Brazilian male, diagnosed with Obsessive-Compulsive Disorder (OCD), has demonstrated cerebellar features that could be connected to Spinocerebellar ataxia type 1 (SCA-1), an autosomal dominantpolyglutamine neurodegenerative disorder that had been previously ruled out. Since obsessive compulsive symptoms (OCS) are known to correlate with alterations in the cortico-striato-thalamo-cortical circuitry, we propose a possible association between OCS and SCA onset

Drell-Yan and J/psi Production in High Energy Proton-Nucleus and Nucleus-Nucleus Collisions

The distributions of outgoing protons and charged hadrons in high energy proton-nucleus collisions are described rather well by a linear extrapolation from proton-proton collisions. This linear extrapolation is applied to precisely measured Drell-Yan cross sections for 800 GeV protons incident on a variety of nuclear targets. The deviation from linear scaling in the atomic number A can be accounted for by energy degradation of the proton as it passes through the nucleus if account is taken of the time delay of particle production due to quantum coherence. We infer an average proper coherence time of 0.4 +/- 0.1 fm/c. Then we apply the linear extrapolation to measured J/psi production cross sections for 200 and 450 GeV/c protons incident on a variety of nuclear targets. Our analysis takes into account energy loss of the beam proton, the time delay of particle production due to quantum coherence, and absorption of the J/psi on nucleons. The best representation is obtained for a coherence time of 0.5 fm/c, which is consistent with Drell-Yan production, and an absorption cross section of 3.6 mb, which is consistent with the value deduced from photoproduction of the J/psi on nuclear targets. Finally, we compare to recent J/psi data from S+U and Pb+Pb collisions at the SPS. The former are reproduced reasonably well with no new parameters, but not the latter.Comment: Talks given at Quark Matter '99, the 14th International Conference on Ultra-Relativistic Nucleus-Nucleus Collisions, Torino, Italy, May 10-14, 1999. 10 pages, five figure

First interspecific genetic linkage map for Castanea sativa x Castanea crenata revealed QTLs for resistance to Phytophthora cinnamomi

Research ArticleThe Japanese chestnut (Castanea crenata) carries resistance to Phytophthora cinnamomi, the destructive and widespread oomycete causing ink disease. The European chestnut (Castanea sativa), carrying little to no disease resistance, is currently threatened by the presence of the oomycete pathogen in forests, orchards and nurseries. Determining the genetic basis of P. cinnamomi resistance, for further selection of molecular markers and candidate genes, is a prominent issue for implementation of marker assisted selection in the breeding programs for resistance. In this study, the first interspecific genetic linkage map of C. sativa x C. crenata allowed the detection of QTLs for P. cinnamomi resistance. The genetic map was constructed using two independent, control-cross mapping populations. Chestnut populations were genotyped using 452 microsatellite and single nucleotide polymorphism molecular markers derived from the available chestnut transcriptomes. The consensus genetic map spans 498,9 cM and contains 217 markers mapped with an average interval of 2.3 cM. For QTL analyses, the progression rate of P. cinnamomi lesions in excised shoots inoculated was used as the phenotypic metric. Using non-parametric and composite interval mapping approaches, two QTLs were identified for ink disease resistance, distributed in two linkage groups: E and K. The presence of QTLs located in linkage group E regarding P. cinnamomi resistance is consistent with a previous preliminary study developed in American x Chinese chestnut populations, suggesting the presence of common P. cinnamomi defense mechanisms across species. Results presented here extend the genomic resources of Castanea genus providing potential tools to assist the ongoing and future chestnut breeding programsinfo:eu-repo/semantics/publishedVersio

Avaliação das anomalias clínico-funcionais na doença de Pompe: Relato de Caso

The patient was a 15 year-old girl who turned out at the Physical Therapy Clinic presenting progressive scoliosis and angle of 50º Coob by X-Ray. She complained of back pain, headache and weakness of shoulder and pelvid girdle. Physical therapy evaluation came across features of delayed motor development and undermourishment, together with generalized muscle weakness (grade=4) which was observed by the Kendall test. Lung vital capacity was 40,5%. Clinical Changes: studies of the enzymes with acid alpha-glucosidase assay kits used on filter and leukocytes low enzyme activity, suggesting a late form of the Pompe disease. The molecular studies proved that the patient had a mutation associated with late-onset Pompe disease. Acid alpha-glucosidase enzyme assay studies performed in skin fibroblasts showed a reduction of the enzymatic acitivity of the acid alpha-glucosidase, confirming the previous results. On account of the results, Pompe disease induced important changes in clinical and functional, as well as metabolic changes, decreased strength and muscle action potentially, biomechanical changes in the spine and changes in respiratory capacity. Furthemore, this case of Pompe disease illustrates the importance od adequate physical therapy evaluation as it can be the starting point of investigation of serious conditions such as late onset Pompe disease.Paciente do sexo feminino com 15 anos, apresentou-se na Clínica de Fisioterapia, devido à presença de escoliose progressiva com ângulo de Coob de 50º pelo Raio-X. Apresentou queixa de dor na coluna e na cabeça, fraqueza de cintura escapular e pélvica. Na avaliação fisioterapêutica observou-se um quadro semelhante ao atrado do desenvolvimento motor e desnutrição, com fraqueza muscular generalizada (grau=4) observada pelo teste de Kendall. Na função pulmonar a capacidade vital apresentou com 40,5%. Estudos enzimáticos com dosagem da alga-glicosidade ácida em papel-filtro e leucócitos evidenciaram baixa atividade enzimática, sugestivo de forma tardia da doença de Pompe. No estudo molecular, comprovou-se que a paciente possuía mutação associada à forma tardia da doença: estudos enzimáticos da alfa-glicosidade ácida em fibroblastos cultivados a partir de biópsia de pele evidenciaram redução da atividade enzimática da alga-glicosidase ácida, confirmando estudos enzimáticos prévios. Perante os resultados, a doença de Pompe apresentou alterações clínicas e funcionais importantes como alteração do metabolismo, diminuição de força e do potencial de ação da musculatura, alterações biomecânicas na coluna e na capacidade respiratória. Adicionalmente, o caso ilustra a importânica da avaliação fisioteraupêtica adequada, pois ele pode ser o ponto de partida da investigação de doenças graves como o presente caso

First Interspecific Genetic Linkage Map for \u3cem\u3eCastanea sativa\u3c/em\u3e x \u3cem\u3eCastanea crenata\u3c/em\u3e Revealed QTLs for Resistance to \u3cem\u3ePhytophthora cinnamomi\u3c/em\u3e

The Japanese chestnut (Castanea crenata) carries resistance to Phytophthora cinnamomi, the destructive and widespread oomycete causing ink disease. The European chestnut (Castanea sativa), carrying little to no disease resistance, is currently threatened by the presence of the oomycete pathogen in forests, orchards and nurseries. Determining the genetic basis of P. cinnamomi resistance, for further selection of molecular markers and candidate genes, is a prominent issue for implementation of marker assisted selection in the breeding programs for resistance. In this study, the first interspecific genetic linkage map of C. sativa x C. crenataallowed the detection of QTLs for P. cinnamomi resistance. The genetic map was constructed using two independent, control-cross mapping populations. Chestnut populations were genotyped using 452 microsatellite and single nucleotide polymorphism molecular markers derived from the available chestnut transcriptomes. The consensus genetic map spans 498,9 cM and contains 217 markers mapped with an average interval of 2.3 cM. For QTL analyses, the progression rate of P. cinnamomi lesions in excised shoots inoculated was used as the phenotypic metric. Using non-parametric and composite interval mapping approaches, two QTLs were identified for ink disease resistance, distributed in two linkage groups: E and K. The presence of QTLs located in linkage group E regarding P. cinnamomi resistance is consistent with a previous preliminary study developed in American x Chinese chestnut populations, suggesting the presence of common P. cinnamomi defense mechanisms across species. Results presented here extend the genomic resources of Castanea genus providing potential tools to assist the ongoing and future chestnut breeding programs

BPAN manifesting with febrile seizures and language delay:a case report from Brazil

Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE)

Doença de Krabbe: relato de casos sobre o espectro fenotípico de uma leucodistrofia metabólica multifacetada

Introdução: A doença de Krabbe, também conhecida como leucodistrofia de células globoides, é uma enfermidade autossômica recessiva rara causada pela deficiência da galactocerebrosidase (GALC). Seu diagnóstico baseia-se em teste enzimático seguido por estudo genético-molecular do gene GALC. As manifestações clínicas são diversas e incluem alterações motoras, envolvimento cognitivo com irritabilidade, espasticidade e regressão do desenvolvimento, com óbito em idade bastante precoce na forma infantil clássica. Nas formas de início tardio, os fenótipos são mais atenuados com anormalidades da marcha e progressão mais lenta. Objetivos: Demonstrar a variabilidade fenotípica de uma coorte brasileira considerando o caráter multiétnico dessa população e enfatizar a importância do diagnóstico precoce para possível tratamento; uma vez que há evidências de melhora da sua evolução e prognóstico. Relato de Casos: São apresentados três casos de pacientes do sexo masculino com Leucodistrofia de Células Globoides; todos filhos de pais não consanguíneos, com diagnóstico molecular e sem variação comum, reforçando o caráter multiétnico da população brasileira. A idade de início das manifestações clínicas foi variável (um mês, oito meses e  dois anos) e o diagnóstico da doença foi realizado entre os três meses e os dois anos de vida. Os pacientes apresentaram atraso no desenvolvimento neuropsicomotor, diversas manifestações neurológicas e a ressonância magnética de encéfalo foi similar entre eles. Os pacientes do estudo não receberam o tratamento, pois não foram diagnosticados precocemente; dois deles apresentaram complicações da doença e evoluíram a óbito. Conclusão: A Leucodistrofia de Células Globoides apresenta uma alta variabilidade fenotípica com múltiplas manifestações. Além disso, o diagnóstico precoce da doença é um desafio que impacta diretamente no prognóstico e na única terapia disponível no momento; o transplante de medula óssea. Adicionalmente, o diagnóstico acurado da enfermidade viabiliza o aconselhamento genético familiar e auxilia na melhora dos cuidados de reabilitação do paciente.

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

Tetrahydrobiopterin (BH$_{4}$) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l-tyrosine, l-3,4-dihydroxyphenylalanine, 5-hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine reductase (DHPR, EC 1.5.1.34) is an enzyme involved in the BH$_{4}$ regeneration. DHPR deficiency (DHPRD) is an autosomal recessive disorder, leading to severe and progressive neurological manifestations, which cannot be exclusively controlled by l-phenylalanine (l-Phe) restricted diet. In fact, the supplementation of neurotransmitter precursors is more decisive in the disease management, and the administration of sapropterin dihydrochloride may also provide positive effects. From the best of our knowledge, there is limited information regarding DHPRD in the past 5 years in the literature. Here, we describe the medical journey of the first patient to have DHPRD confirmed by molecular diagnostic methods in Brazil. The patient presented with two pathogenic variants of the quinoid dihydropteridine reductase (QDPR) gene-which codes for the DHPR protein, one containing the in trans missense mutation c.515C>T (pPro172Leu) in exon 5 and the other containing the same type of mutation in the exon 7 (c.635T>C [p.Phe212Ser]). The authors discuss their experience with sapropterin dihydrochloride for the treatment of DHPRD in this case report