Normal dimensions of trachea and two main bronchi in the Iranian population

Background: The purpose of this study was to determine the normal diameters of larger airways in the Persian population, since these demographic variables are essential for interpretation of chest CTs and/or plain X-rays. Material/Methods: During a 6-month period, sagittal and coronal diameters of tracheas of all cases admitted for a chest CT to the radiology department of the National Research Institute of Tuberculosis and Lung Disease (NRITLD) were measured. The patients had to accept to take part in the study and had to fulfill the inclusion and exclusion criteria of the study. Ninety-nine percent confidence intervals (99% CI) were used to define the upper and lower limits of normal. Results: Two hundred subjects, including 132 men and 68 women aged 20-85 years, were studied. Coronal and sagittal diameters of tracheas in the upper part were as follows: 1.8±0.24 and 2.06±0.27cm for men, and 1.48±0.20 and 1.49±0.24 for women, respectively. For the lower part that was: 1.8±0.23, 1.86±0.27, 1.51±0.18, and 1.46±0.23, respectively. For the right and left mainstem bronchi the values were as follows: 1.16±0.17 and 1.02±0.22 for men and 0.93±0.13 and 0.81±0.13 for women, respectively. Conclusions: The values determined by us had a narrower range of normality than the ones found in the previous reports, so they will stay more friendly for interpretation of individual cases

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic. [Display omitted] •New MSSNG release contains WGS from 11,312 individuals from families with ASD•Extensive variant data available, including SNVs/indels, SVs, tandem repeats, and PRS•Annotation reveals 134 ASD-associated genes, plus SVs not detectable without WGS•Rare, dominant variation has a prominent role in multiplex ASD The latest release of the Autism Speaks MSSNG resource provides an expanded sample size and facilitates the comprehensive examination of the roles of many types of genetic variation in autism spectrum disorder