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.