11.Hypoxic ventilatory depressionと思われる一症例について(第551回千葉医学会例会・第9回麻酔科例会・第18回千葉麻酔懇話会)

FISH analysis on metaphase nuclei (top panel) of cultured cells derived from peripheral blood leukocytes of the proband of family 2 by using BAC probes for 11p15.5-15.4 (RP11-11A9, 3,236,552-3,356,012, green) and 11q22.3 (RP11-179B7, 104,298,339-104,459,797, red). The green signal on both homologues is visible only at chr11p, demonstrating the presence of an in cis duplication and excluding an unbalanced translocation. FISH analysis on interphase nuclei (bottom panel) using the BACs RP11-699D10 (2.9–3.0 Mb, red) and RP11-11A9 (green), hybridizing within the duplication. Note that single and duplicated signals can be seen on the two homologues, respectively. The red-green-green-red order of the duplicated signals indicates that the duplication is inverted. (PDF 52 kb

High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

<div><p>24,189 are all the possible non-synonymous amino acid changes potentially affecting the human mitochondrial DNA. Only a tiny subset was functionally evaluated with certainty so far, while the pathogenicity of the vast majority was only assessed <i>in-silico</i> by software predictors. Since these tools proved to be rather incongruent, we have designed and implemented APOGEE, a machine-learning algorithm that outperforms all existing prediction methods in estimating the harmfulness of mitochondrial non-synonymous genome variations. We provide a detailed description of the underlying algorithm, of the selected and manually curated training and test sets of variants, as well as of its classification ability.</p></div

Performance evaluation calculated on 153 known and unbiased mitochondrial non-synonymous variants.

<p>Performance evaluation calculated on 153 known and unbiased mitochondrial non-synonymous variants.</p

Known variants grouped by mitochondrial gene symbol and OXPHOS complex.

<p>Known variants grouped by mitochondrial gene symbol and OXPHOS complex.</p

Meta-predictors performance comparisons by receiver operating characteristic curves.

<p>Meta-predictors performance comparisons by receiver operating characteristic curves.</p

Performance evaluation calculated on 864 known mitochondrial non-synonymous variants.

<p>Number of available predictions in last column.</p

List of assembled predictors and annotations in MitImpact.

<p>List of assembled predictors and annotations in MitImpact.</p

Clinical characteristics of patients (probands and their relatives) with either MODY, FDA or T2DM.

<p>Continuous variables were reported as mean <u>+</u> SD, whereas categorical variables are reported as percentages. FDA: Familial Diabetes of the Adulthood; MODY: Maturity Onset Diabetes of the Young; T2DM: Type 2 Diabetes Mellitus; HbA1c: Glycated hemoglobin; OADs: Oral Antidiabetes Drugs</p><p>*: p<0.001 vs. T2DM patients</p><p>^†: p≤0.01 vs. MODY patients</p><p>**: p<0.05 vs. T2DM patients</p><p>^††: p≤0.05 vs. MODY patients.</p><p>Because of the well-known differences across the two clinical entities, no comparisons were carried out between MODY and T2DM.</p><p>Clinical characteristics of patients (probands and their relatives) with either MODY, FDA or T2DM.</p

Scatterplot of age at diagnosis in adult patients with MODY, FDA and T2DM.

<p>Scatterplot of age at diagnosis in adult patients with MODY, FDA and T2DM.</p

MOESM6 of Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Additional file 6: Table S6. Chromosomal rearrangements of cancer function-related genes detected in the proband through single nucleotide polymorphism