Multiple ornamental uses of Costus stenophyllus standi. & L.O. Williams

Costus stenophyllus or bamboo costus, despite its high ornamental potential, is still little known in the cut flower and ornamental plant market. The bamboo costus is a spiral ginger admired for its beautiful stems that are lined with brown colored alternating bands. This costus has rather straight and upright stems. Conical red inflorescences, which resemble the head of a snake, emerge from the base of the plants. The flowers are light yellow and emerge between the red scales on the rather long-lasting, attractive inflorescences. This study was carried out to evaluate the possibility of using these species as a garden plant, cut flower and cut stem. Thus, the characterization was made based on 28 characters of the plant, the leaves, the flower stem, the flowers, as well as season blooming characteristics and flower postharvest longevity.

Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH. We concluded that all three systems could be used for the clinical diagnosis of WBS, but they all gave a low percentage of false-positive (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be associated with FISH testing. © FUNPEC-RP.

Estudo citogenético da região 7q11.23: a síndrome de Williams-Beuren

Pós-graduação em Pediatria - FMB

A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômica

Pós-graduação em Ciências Biológicas (Genética) - IBB

Caracterização do fenótipo comportamental e de linguagem na síndrome de Williams-Beuren

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

A estrutura do sentimento e das formas sócio-culturais: o sentido de literatura e de experiência para a sociologia da cultura de Raymond Williams

Williams elabora o conceito de estrutura de sentimento de diversas maneiras em vários trechos importantes de sua obra. Este conceito adquire uma signifi cância metodológica especial ao relacionar o extraordinário da literatura imaginativa ao ordinário do processo cultural. Ele é empregado particularmente para mostrar o sentido de literatura na articulação de alternativas para as visões dominantes de mundo, e, consequentemente, para a política da mudança social. As diferentes formulações do conceito apresentadas por Williams são discutidas através da maneira como a experiência refl exiva se relaciona com as estruturas institucionais, com o estruturalismo genérico de Goldmann e com os conceitos de “habitus” e campo cultural de Bourdieu. Três tipos de críticas são levados em conta e têm em comum a ideia de que o conceito não é claro. Ao ser usado na análise da literatura e seus símbolos, este conceito pode contribuir para o esclarecimento da complexidade dos processos de comunicação refl exiva da experiência, que estão enraizados na ordem e na mudança social.

Correlações entre sono-vigília, memória e melatonina em Síndrome de Williams-Beuren

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Multiple Ornamental Uses of Costus stenophyllus Standl. & LO Williams

Costus stenophyllus or bamboo costus, despite its high ornamental potential, is still little known in the cut flower and ornamental plant market. The bamboo costus is a spiral ginger admired for its beautiful stems that are lined with brown colored alternating bands. This costus has rather straight and upright stems. Conical red inflorescences, which resemble the head of a snake, emerge from the base of the plants. The flowers are light yellow and emerge between the red scales on the rather long-lasting, attractive inflorescences. This study was carried out to evaluate the possibility of using these species as a garden plant, cut flower and cut stem. Thus, the characterization was made based on 28 characters of the plant, the leaves, the flower stem, the flowers, as well as season blooming characteristics and flower postharvest longevity.

Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil

Pós-graduação em Ciências Biológicas (Genética) - IBB

The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome

Purpose: Williams-Beuren syndrome is a genomic disorder caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Lower urinary tract symptoms are common in children with Williams-Beuren syndrome. However, there are few data on the management of voiding symptoms in this population. We report our experience using oxybutynin to treat urinary symptoms in children with Williams-Beuren syndrome. Materials and Methods: We prospectively analyzed 42 patients with Williams-Beuren syndrome and significant lower urinary tract symptoms due to detrusor overactivity diagnosed on urodynamics in a 12-week, open-label study. Urological assessment included symptomatic evaluation, the impact of lower urinary tract symptoms on quality of life, frequency-volume chart, urodynamics and urinary tract sonography. After 12 weeks of treatment with 0.6 mg/kg oxybutynin per day given in 3 daily doses, patients were assessed for treatment efficacy and side effects. Results: A total of 17 girls and 19 boys completed medical therapy and were assessed at 12 weeks. Mean +/- SD patient age was 9.2 +/- 4.3 years (range 3 to 18). The most common urinary complaint was urgency, which occurred in 31 patients (86.1%), followed by urge incontinence, which was seen in 29 (80.5%). Compared to baseline, urinary symptoms were substantially improved. The negative impact of storage symptoms on quality of life was significantly decreased from a mean +/- SD of 3.3 +/- 1.7 to 0.5 +/- 0.9 (p <0.001). Mean +/- SD maximum urinary flow improved from 14.2 +/- 15.0 to 20.5 +/- 6.4 ml per second (p <0.001). Conclusions: A total of 12 weeks of therapy with 0.6 mg/kg oxybutynin daily resulted in improvement of lower urinary tract symptoms, quality of life and maximum flow rate in most patients with Williams-Beuren syndrome.

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Abstract Background Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS. Results We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion. Conclusion MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

L'altro eccezionalismo: William Appleman Williams tra storia, storiografia e impegno civile

La storiografia statunitense, a partire dagli anni Cinquanta, vide l’affermarsi di una nuova interpretazione della politica estera americana. Archiviata la storia diplomatica come storia dei trattati o storia delle interazioni delle élites dominanti, abbandonata una visione incentrata sull’equilibrio di potenza, il dibattito storiografico si arricchì della cosiddetta interpretazione «revisionista», antitetica rispetto a quella che, fino a quel momento, aveva predominato. Soggetto di analisi storica restava sempre lo Stato ma l’enfasi maggiore era posta sui fattori economici che ne influenzavano l’azione: si metteva in rilievo l’interazione tra l’interesse privato e il soggetto statale. Capofila di questa nuova scuola fu William Appleman Williams. Questa ricerca si pone l’obiettivo di delineare il contesto storiografico dal quale emersero gli studi di Williams e di cui egli ne roviesciò alcuni assunti fondamentali. Si intende tracciare il suo percorso intellettuale – storiografico e pubblico – al fine di restituire la complessità di un personaggio che divenne un vero e proprio «intellettuale pubblico». I quesiti, a cui questa ricerca vuole dar risposta riguardano l’evoluzione del percorso intellettuale di Williams tanto in ambito storiografico quanto, più in generale, in quello pubblico; il contributo alla ridefinizione dell’identità statunitense e del suo ruolo internazionale; il lascito della sua riflessione nella storiografia. Prendendo le mosse dall’idea di frontiera proposta da Turner, Williams sostenne che la fine dell’espansione territoriale «interna» aveva obbligato gli Stati Uniti a cercare nuovi mercati per il proprio surplus. Era stata tale necessità a catalizzare la Open Door Diplomacy, guidata da ragioni economiche, che presto identificarono l’interesse nazionale per trasformarsi in una vera e propria ideologia nel XX secolo.L’esito di tale politica estera fu la creazione di un impero non più territoriale ma frutto dell’espansione economica. E proprio questa riflessione sull’impero influenzò, negli anni Sessanta, la protesta studentesca che chiese un ripensamento del ruolo internazionale degli Stati Uniti.

Inconsistencies in the planning of the duration of anticoagulation among outpatients with acute deep-vein thrombosis. Results from the OTIS-DVT Registry

Three-month anticoagulation is recommended to treat provoked or first distal deep-vein thrombosis (DVT), and indefinite-duration anticoagulation should be considered for patients with unprovoked proximal, unprovoked recurrent, or cancer-associated DVT. In the prospective Outpatient Treatment of Deep Vein Thrombosis in Switzerland (OTIS-DVT) Registry of 502 patients with acute objectively confirmed lower extremity DVT (59% provoked or first distal DVT; 41% unprovoked proximal, unprovoked recurrent, or cancer-associated DVT) from 53 private practices and 11 hospitals, we investigated the planned duration of anticoagulation at the time of treatment initiation. The decision to administer limited-duration anticoagulation therapy was made in 343 (68%) patients with a median duration of 107 (interquartile range 91-182) days for provoked or first distal DVT, and 182 (interquartile range 111-184) days for unprovoked proximal, unprovoked recurrent, or cancer-associated DVT. Among patients with provoked or first distal DVT, anticoagulation was recommended for < 3 months in 11%, 3 months in 63%, and for an indefinite period in 26%. Among patients with unprovoked proximal, unprovoked recurrent, or cancer-associated DVT, anticoagulation was recommended for < 6 months in 22%, 6-12 months in 38%, and for an indefinite period in 40%. Overall, there was more frequent planning of indefinite-duration therapy from hospital physicians as compared with private practice physicians (39% vs. 28%; p=0.019). Considerable inconsistency in planning the duration of anticoagulation therapy mandates an improvement in risk stratification of outpatients with acute DVT.

Outpatient management of acute deep vein thrombosis: Results from the OTIS-DVT registry

We aimed to investigate clinical practice patterns for the outpatient management of acute deep vein thrombosis (DVT).