MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported

Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate. This syndrome is also frequently associated with brain, cardiovascular, and urinary anomalies and is occasionally accompanied by malignant lesions such as Wilms turnout and hepatocarcinoma. The syndrome is known to be caused by mutations or deletions of the NSD1 gene. To detect both 5q35 microdeletions and partial NSD1 gene deletions we screened 30 Brazilian patients with clinical diagnosis of Sotos syndrome by multiplex ligation dependent probe amplification. We identified one patient with a total deletion of NSD1 and neighbouring FGFR4, other with missing NSD1 exons 13-14 and another with a deletion involving FGFR4 and spanning up to NSD1 exon 17. All deletions were de novo. The two NSD1 partial deletions have not been previously reported. The clinical features of the three patients included a typical facial gestalt with frontal bossing, prominent jaw and high anterior hairline; macrocephaly, dolichocephaly, large hands; neonatal hypotonia and jaundice. All presented normal growth at birth but postnatal overgrowth. Two patients with NSD1 and FGFR4 gene deletions presented congenital heart anomalies. (C) 2009 Elsevier Masson SAS. All rights reserved.

Presence of MRI-detected joint effusion and synovitis increases the risk of cartilage loss in knees without osteoarthritis at 30-month follow-up: the MOST study

Objective To evaluate if two different measures of synovial activation, baseline Hoffa synovitis and effusion synovitis, assessed by MRI, predict cartilage loss in the tibiofemoral joint at 30 months follow-up in subjects with neither cartilage damage nor tibiofemoral radiographic osteoarthritis of the knee. Methods Non-contrast-enhanced MRI was performed using proton density-weighted fat-suppressed sequences in the axial and sagittal planes and a short tau inversion recovery sequence in the coronal plane. Hoffa synovitis, effusion synovitis and cartilage status were assessed semiquantitatively according to the WORMS scoring system. Included were knees that had neither radiographic osteoarthritis nor MRI-detected tibiofemoral cartilage damage at the baseline visit. The presence of Hoffa synovitis was defined as any grade = 2 (range 0-3) and effusion synovitis as any grade = 2 (range 0-3). Logistic regression was performed to examine the relation of the presence of either measure to the risk of cartilage loss at 30 months adjusting for other potential confounders. Results Of 514 knees included in the analysis, the prevalence of Hoffa synovitis and effusion synovitis at the baseline visit was 8.4% and 10.3%, respectively. In the multivariable analysis, baseline effusion synovitis was associated with an increased risk of cartilage loss. No such association was observed for baseline Hoffa synovitis. Conclusions Baseline effusion synovitis, but not Hoffa synovitis, predicted cartilage loss. The findings suggest that effusion synovitis, a reflection of inflammatory activity including joint effusion and synovitic thickening, may play a role in the future development of cartilage lesions in knees without osteoarthritis.

Couple distress after sudden infant or perinatal death: A 30-month follow up

Objective: To examine, using a 30-month prospective study, patterns of anxiety, depression and alcohol use in couples following stillbirth, neonatal death or sudden infant death syndrome. Methodology: One hundred and thirty-eight bereaved and 156 non-bereaved couples completed standardized interviews at 2, 8, 15 and 30 months post-loss. Results: At all interviews, bereaved couples were significantly more likely than non-bereaved couples to have at least one distressed partner. Rarely were both partners distressed in either group. For bereaved couples, 'mother only' distress declined from 21% to 10% during the study. 'Father only' distress ranged from 7% to 15%, peaking at 30 months. Bereaved mothers who were distressed at 2 months reported significantly lower marital satisfaction at 30 months. Conclusions: At the couple level, the experience of a baby's death is multifaceted. Gender differences are common and partners' needs may change over time. Early recognition of these differences may facilitate longer-term adjustment for both partners.

Editorial: Celebrating 30 years - 1973-2003

In 2003 The Australian Journal of Indigenous Education celebrates its 30th anniversary. Beginning in 1973 as The Aboriginal Child at School, the journal was a practical response to a recommendation made at the National Workshop on Aboriginal Education held in May 1971 “that a periodical publication be commenced to provide a medium for the exchange of ideas and developments in the teaching of Aborigines, for the examination of practical implications of research findings and for the recording of Aboriginal achievements” (Watts, 1973, p. 2). Funded by the Department of Aboriginal Affairs in Canberra and housed in the Department of Education and later the Aboriginal and Torres Strait Islander Studies Unit at the University of Queensland, The Aboriginal Child at School was published at two monthly intervals. It aimed to provide a medium whereby teachers in the field of Aboriginal and Torres Strait Islander education could share their thinking and their strategies for successful teaching and thereby enter into a meaningful and productive dialogue with one another (Watts, 1973, p. 2). An overarching concern of the journal was to improve and optimise children’s development and the types of pedagogies employed to provide challenging and rewarding learning experiences for Aboriginal and Torres Strait Islander children.The journal was enthusiastically embraced by a broad range of professionals and proved to be a useful resource for both experienced and beginning teachers, particularly in the primary sector.

Aposentadoria em at?? 30 minutos

A procura pela qualidade e resolutividade do reconhecimento do direito previdenci??rio em menor tempo ?? uma busca incessante do Instituto Nacional do Seguro Social (INSS). Da forma conceituada anteriormente, o servi??o n??o atendia a necessidade da sociedade, pois havia demora significativa na resolu????o dos processos de benef??cios. Isso se devia ao fato de que cabia ao segurado a apresenta????o e comprova????o da documenta????o necess??ria ao direito previdenci??rio. Ap??s v??rios debates promovidos pelo INSS e a mudan??a no fluxo do reconhecimento do direito, o instituto p??de garantir que maior n??mero de segurados tenha acesso ao reconhecimento do direito em at?? 30 minutos, considerando a invers??o do ??nus da prova, dispensando a apresenta????o de documentos pelo segurado. A internaliza????o do novo conceito e da fixa????o de metas garantiu o reconhecimento do direito em at?? 30 minutos e a redu????o no tempo m??dio de atendimento do cidad??o.

Portaria n?? 297, de 30 de dezembro de 2013: institui o Reposit??rio Institucional da ENAP

Disp??e sobre o Reposit??rio Institucional da Escola Nacional de Administra????o P??blica (ENAP) e estabelece as compet??ncias e as responsabilidades a ele referentes.

Texto para discuss??o 30: demiss??o por insufici??ncia de desempenho na reforma gerencial: avan??os e desafios

Este texto discute o significado da inser????o da demiss??o por insufici??ncia de desempenho no processo de implanta????o da administra????o gerencial, em termos de seus principais avan??os e desafios

Composite synthetic hydroxyapatite 30%, in two physical states, as dermal filler

The aim of this study was to evaluate the response to the implantation of synthetic hydroxyapatite 30% (HAP-91®) in different physical states as dermal filler. Eighteen New Zealand rabbits were used, distributed randomly into two equal groups and then divided into three groups according to the postoperative period at 8, 21 and 49 days. One mL of HAP-91®, fluid and viscous, was implanted in the subcutaneous tissue, 1 cm proximal to the cranial crest of the right scapula. The thickness of the skin was measured before and after implantation and for the following 15 days. Pain sensitivity assessment was conducted, assigning the following scores: 0 - when the animal allowed the touch of the implant area and expressed no signs of pain; 1 - when the animal allowed the touch, but pain reaction occurred, like increase of the respiratory rate or attempt to escape; 2 - when the animal did not allow the touch to the implanted area. At 8, 21 and 49 days, biopsy of the implanted area was performed. No difference was observed between the thickness of the skin (p>0.05) and all animals received a score 0 for soreness. Histological analysis did not reveal any obvious inflammatory process, showing a predominance of mononuclear cells in samples of eight days and tissue organization around the biomaterial with a tendency to encapsulation. The results indicate that HAP-91®, both viscous and fluid, is biocompatible and suitable for dermal filling.