Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 x10(-8)), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD

New formula to objectively evaluate skeletal maturation using lateral cephalometric radiographs Nova fórmula para avaliação objetiva da maturação esquelética em radiografias cefalométricas laterais

The aim of this study was to establish two new formulas for objectively evaluating skeletal maturation of cervical vertebrae in female and male Brazilian subjects using lateral cephalometric radiographs. The sample included 128 girls and 110 boys, aged 7.0 to 15.9 years, from the files of the Oral Radiology Clinic, Piracicaba Dental School, University of Campinas (Unicamp), SP, Brazil. The cervical vertebral bodies of C3 and C4 were traced and measured and regression formulas were developed in order to determine cervical vertebral bone age. Another sample of lateral teleradiographs and hand-wrist radiographs of 55 girls and 54 boys (aged 7.0 to 15.9 years) was used to verify the reliability of the developed regression formulas, as compared with bone age assessed using the Tanner et al.15 (2001) Method (TW3) in hand-wrist radiographs. The analysis of both the boys’ and girls’ data (ANOVA) showed no statistical difference between cervical vertebral bone age, bone age, and chronological age, indicating that these formulas can be used in this population (p = 0.5721 and p = 0.6007 for girls and boys, respectively). Female cervical vertebral bodies of C3 and C4 increased in an accelerated manner from 10 to 13 years. Analysis of the male sample showed that C3 measurements increased in an accelerated manner from 12 to 15 years. The C4 measurements, however, did not increase at all. Using cervical vertebral bone age it is possible to evaluate skeletal maturation objectively in cephalometric radiographs.<br>O objetivo deste estudo foi estabelecer dois novos métodos para meninas e meninos brasileiros, no intuito de determinar de forma objetiva a maturação esquelética das vértebras cervicais em radiografias cefalométricas laterais. Foram selecionados 128 meninas e 110 meninos, com faixa etária variando entre 7 e 15,9 anos, pertencentes à Clínica de Radiologia da Faculdade de Odontologia de Piracicaba da Universidade de Campinas (Unicamp). Os corpos da terceira e quarta vértebras cervicais foram traçados e medidos e fórmulas de regressão foram criadas no intuito de se estabelecer a idade óssea das vértebras cervicais. Uma outra amostra composta por telerradiografias em normal lateral e radiografias carpais de 55 meninas e 54 meninos com a mesma faixa etária foi utilizada para verificar a confiabilidade das fórmulas criadas, em comparação à idade óssea determinada pelo método de Tanner et al.15 (2001) (TW3) em radiografias carpais. A análise da amostra feminina e masculina (ANOVA) revelou não haver diferença estatística significativa entre idade óssea da vértebra cervical, idade esquelética e idade cronológica, indicando que as fórmulas desenvolvidas podem ser utilizadas nesta população (p = 0,5721 e p = 0,6007 para meninas e meninos, respectivamente). Os corpos da terceira e quarta vértebras cervicais aumentaram de forma acelerada dos 10 aos 13 anos nas meninas. A análise da amostra masculina revelou aumento acelerado de C3 dos 12 aos 15 anos. A vértebra C4, no entanto, não aumentou em tamanho. Utilizando a idade óssea de vértebras cervicais, é possível avaliar a maturidade esquelética de forma objetiva em radiografias cefalométricas laterais

Computerized Tomographic Morphometric Analysis of the Cervical Spine

BACKGROUND: Detailed knowledge of cervical canal and transverse foramens’ morphometry is critical for understanding the pathology of certain diseases and for proper preoperative planning. Lateral x-rays do not provide the necessary accuracy. A retrospective morphometric study of the cervical canal was performed at the authors’ institution to measure mean dimensions of sagittal canal diameter (SCD), right and left transverse foramens’ sagittal (SFD) and transverse (TFD) diameters and minimum distance between spinal canal and transverse foramens (dSC-TF) for each level of the cervical spine from C1-C7, using computerized tomographic scans, in 100 patients from the archives of the Emergency Room. RESULTS: Significant differences for SCD were detected between C1 and the other levels of the cervical spine for both male and female patients. For the transverse foramen, significant differences in sagittal diameters were detected at C3, C4, C5 levels. For transverse diameters, significant differences at C3 and C4 levels. A significant difference of the distance between the transverse spinal foramen and the cervical canal was measured between left and right side at the level of C3. This difference was equally observed to male and female subjects. CONCLUSION: CT scan can replace older conventional radiography techniques by providing more accurate measurements on anatomical elements of the cervical spine that could facilitate diagnosis and preoperative planning, thus avoiding possible trauma to the vertebral arteries during tissue dissection and instrument application

Uninstrumented posterolateral spinal arthrodesis: is it the gold standard technique for I° and II° grade spondylolisthesis in adolescence?

We retrospectively reviewed the outcome of uninstrumented posterolateral spinal arthrodesis in 49 patients with lumbar isthmic spondylolisthesis grades I° and II° in adolescent patients in the time of surgery, who participate at follow-up, between 1980 and 1995. The goal of our study is to analyse the clinical and radiographic imaging at long follow-up in uninstrumented posterolateral arthrodesis and to evaluate the efficiency and the validity of surgical technique in young patients (<18 years). All patients had failed previous conservative treatment. The average age at follow-up was 33.5 years (range 25–42 years) and the average follow-up time was 19.7 years (range 12–27 years). The clinical outcome measures were the Oswestry Disability Index, the SF-36, and the visual analogic score. All measures assessed the endpoint outcomes at 20 years after surgery. The outcome of spinal fusion was good with 43 (87.7%) patients attaining solid fusion, pseudoarthrosis in 6 patients (12.3%). None of our patients complained of excessive postoperative wound pain. Additionally, no complications, such as wound infection, were encountered. Satisfactory results were obtained in 94% of patients and this was closely associated with the rate of successful fusion. The results suggest that clinical outcome is closely related to the attainment of solid fusion