We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli-Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome).

Single-pixel imaging is an imaging technique that has recently attracted a lot of attention from several areas. This paper presents a study on the influence of the Hadamard basis ordering on the image reconstruction quality, using simulation and experimental methods. During this work, five different orderings, Natural, Walsh, Cake-cutting, High Frequency and Random orders, along with two different reconstruction algorithms, TVAL3 and NESTA, were tested. Also, three different noise levels and compression ratios from 0.1 to 1 were evaluated. A single-pixel camera was developed using a digital micromirror device for the experimental phase. For a compression ratio of 0.1, the Cake-cutting order achieved the best reconstruction quality, while the best contrast was achieved by Walsh order. For compression ratios of 0.5, the Walsh and Cake-cutting orders achieved similar results. Both Walsh and Cake-cutting orders reconstructed the images with good quality using compression ratios from 0.3. Finally, the TVAL3 algorithm showed better image reconstruction quality, in comparison with NESTA, when considering compression ratios from 0.1 to 0.5.

BackgroundThe prevalence of diabetes mellitus is higher in individuals with Down syndrome (DS) than in the general population; it may be due to the high prevalence of obesity presented by many of them. The aim of this study was to evaluate the insulin resistance (IR) using the HOMA (Homeostasis Model Assessment) method, in DS adolescents, describing it according to the sex, body mass index (BMI) and pubertal development.Methods15 adolescents with DS (8 males and 7 females) were studied, aged 10 to 18 years, without history of disease or use of medication that could change the suggested laboratory evaluation. On physical examination, the pubertal signs, acanthosis nigricans (AN), weight and height were evaluated. Fasting plasma glucose and insulin were analysed by the colorimetric method and RIA-kit LINCO, respectively. IR was calculated using the HOMA method. The patients were grouped into obese, overweight and normal, according to their BMI percentiles. The EPIINFO 2004 software was used to calculate the BMI, its percentile and Z score.ResultsFive patients were adults (Tanner V or presence of menarche), 9 pubertal (Tanner II – IV) and 1 prepubertal (Tanner I). No one had AN. Two were obese, 4 overweight and 9 normal. Considering the total number of patients, HOMA was 1.7 ± 1.0, insulin 9.3 ± 4.8 μU/ml and glucose 74.4 ± 14.8 mg/dl. The HOMA values were 2.0 ± 1.0 in females and 1.5 ± 1.0 in males. Considering the nutritional classification, the values of HOMA and insulin were: HOMA: 3.3 ± 0.6, 2.0 ± 1.1 and 1.3 ± 0.6, and insulin: 18.15 ± 1.6 μU/ml, 10.3 ± 3.5 μU/ml and 6.8 ± 2.8 μU/ml, in the obese, overweight and normal groups respectively. Considering puberty, the values of HOMA and insulin were: HOMA: 2.5 ± 1.3, 1.4 ± 0.6 and 0.8 ± 0.0, and insulin: 13.0 ± 5.8 μU/ml, 7.8 ± 2.9 μU/ml and 4.0 ± 0.0 μU/ml, in the adult, pubertal and prepubertal groups respectively.ConclusionThe obese and overweight, female and adult patients showed the highest values of HOMA and insulin.

Background: The congenital muscular torticollis is characterized by a persistent lateral flexion of the head to the affected side and cervical rotation to the opposite side due to unilateral shortening of the sternocleidomastoid muscle. The majority of the cases resolve with conservative management, with parents/caregivers education and physical therapy. The aim of this study was to assess demographic and clinical characteristics, treatment options, and outcome, amongst infants referred to pediatric rehabilitation consultation due to congenital muscular torticollis. Methods: Retrospective cohort study of infants diagnosed with congenital muscular torticollis between January 2012 and December 2014. Obstetric and perinatal data, clinical presentation, comorbidities, treatment, and outcome were abstracted from clinical records. Results: One hundred six infants were included. There was no sex predominance and mean age at first pediatric rehabilitation consultation was 11.6 (10.4) weeks. Most women were primiparous (76.4%), dystocic labor predominated (73.6%), and pelvic fetal presentation occurred in 20.8%. At examination, 49.1% of the infants had abnormalities, beyond the tilt cervical, mainly range of motion restrictions and palpable nodule in sternocleidomastoid muscle. Among the 87 children who performed the cervical ultrasound, 29 (27.4%) had anomalies. Associated clinical conditions such as hip dysplasia were identified. The majority (71.7%) were submitted to conservative treatment, 30.2% in the Pediatric Rehabilitation Department. Most infants (97.2%) showed a complete resolution of the torticollis. Conclusions: Congenital muscular torticollis is the most common cause of torticollis in the infants. Early diagnosis, parent/caregivers education, and conservative treatment are crucial to achieving good results.

ResumoIniciamos, em 2010, a pesquisa O ProUni e o acesso ao Ensino Superior: estudo introdutório sobre os usuários do programa na zona oeste do município Rio de Janeiro, que tem por objetivo geral avaliar os impactos de uma política pública em educação voltada à inclusão no Ensino Superior privado de populações com baixas chances de acesso ao mesmo. A pesquisa, realizada entre julho de 2010 e abril de 2011, investigou dados acerca dos alunos que ingressaram no Ensino Superior em 2005 e 2006, primeiros anos do ProUni, em duas IES privadas situadas no bairro de Campo Grande, zona oeste do Rio de Janeiro. Nossa hipótese inicial foi que, após pelo menos dois anos de conclusão do curso, esses egressos já teriam construído novas trajetórias profissionais e de vida. Os dados iniciais, apesar das suas limitações, indicam que, como política pública, o ProUni tem demonstrado eficácia pela baixa taxa de evasão e que os egressos experimentaram novas trajetórias profissionais e pessoais. Palavras-chave: Políticas Públicas. ProUni. Trajetórias escolares. ProUni and the conclusion of Higher Education: the new personal and professional trajectories of the users of the Program AbstractLast year we started the research ProUni and the access to Higher Education: introductory study on the users of the program in the western of the city of Rio 862

A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and neurological investigations. Physical examination revealed a hoarse tone voice, dry skin, cold extremities and height in the third percentile (target height between 50th and 85th percentile). Left wrist radiography revealed a bone age of 4.5 years ±6 months Laboratory studies confirmed growth hormone deficiency and central hypothyroidism. The brain MRI showed an ectopic neurohypophysis. Neuroophthalmology investigation revealed left optic nerve hypoplasia and septo-optic dysplasia was then diagnosed. Thyroid and recombinant growth hormone replacement were started showing clinical improvement. A detailed clinical history and a careful physical examination in children presenting with multiple clinical signs of hypopituitarism may lead to a timely diagnosis, avoiding clinical morbidity associated to untreated hormonal abnormalities.

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare autosomal-recessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. We report three BSCL cases with its typical clinical picture and complications. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. Two cases present attention deficit hyperactivity and developmental learning disorders; another patient has hypertrophic myocardiopathy and polycystic ovary syndrome. In all the cases AGPAT2 was the identified mutation. All the cases present hypertriglyceridemia. One case has developed hyperinsulinism controlled with metformin and another case already has type 2 diabetes with a difficult clinical control. There is no curative treatment and the current treatment options are based only on symptomatic control of the complications. Recently, published studies showed that leptin-replacement therapy appears a promising tool in the metabolic correction of BSCL complications, highlighting the importance of further investigations in BSCL treatment.

A análise e a avaliação de políticas implementadas por um governo envolvem fatores de diferentes naturezas, especialmente quando se focalizam políticas de inclusão social no ensino superior. Buscando analisar o Programa Universidade para Todos, iniciamos a pesquisa O ProUni e o acesso ao ensino superior: estudo introdutório sobre os usuários do programa na zona oeste do município Rio de Janeiro, que tem por objetivo geral avaliar os impactos de uma política pública em educação voltada à inclusão no ensino superior privado, através de bolsas de estudos, de populações com baixas chances de acesso ao ensino superior. No presente artigo apresentamos os dados iniciais da pesquisa coletados em uma Instituição de ensino superior no bairro de Campo Grande, zona oeste do Rio de Janeiro, que apontam para uma evasão próxima à média nacional o que nos leva a inferir, inicialmente, na eficácia do Programa e no sucesso escolar dos indivíduos beneficiados.