195 research outputs found
弁護士との法律相談内容に対する警察による捜査関係事項照会の憲法的評価――憲法上のプライバシー権・秘密交通権・弁護士相談権(裁判を受ける権利)に着目した事例研究――
departmental bulletin pape
Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia
We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started. Analysis of the mut gene confirmed a T-to-A substitution at nucleotide position 1481 in exon 8 and a T-to-C substitution at nucleotide position 2216 in exon 13, leading to the amino acid isoleucine at position 739 being changed to threonine, resulting in c.2216T > C (p.I739T). The patient has now been on high-dose oral administration of Vitamin B12 and carnitine therapy (900 mg of levocarnitine chloride) for 5 years without experiencing further attacks, and her cognitive and motor development is normal. Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA
Odorant Receptor Map in the Mouse Olfactory Bulb: In Vivo Sensitivity and Specificity of Receptor-Defined Glomeruli
Odorant identity is represented in the olfactory bulb (OB) by the glomerular activity pattern, which reflects a combination of activated odorant receptors (ORs) in the olfactory epithelium. To elucidate this neuronal circuit at the molecular level, we established a functional OR identification strategy based on glomerular activity by combining in vivo Ca^(2+) imaging, retrograde dye labeling, and single-cell RT-PCR. Spatial and functional mapping of OR-defined glomeruli revealed that the glomerular positional relationship varied considerably between individual animals, resulting in different OR maps in the OB. Notably, OR-defined glomeruli exhibited different ligand spectra and far higher sensitivity compared to the in vitro pharmacological properties of corresponding ORs. Moreover, we found that the olfactory mucus was an important factor in the regulation of in vivo odorant responsiveness. Our results provide a methodology to examine in vivo glomerular responses at the receptor level and further help address the long-standing issues of olfactory sensitivity and specificity under physiological conditions
心室中隔欠損症に対する小児心臓カテーテル検査における麻酔方法と重症合併症の関連
Pediatric cardiac catheterization requires unconsciousness and immobilization through
general anesthesia or sedation. This study aimed to compare the occurrence of severe complications
in pediatric diagnostic cardiac catheterization for ventricular septal defect between general anesthesia
and sedation performed under similar institutional environments. Using the Japanese Diagnosis
Procedure Combination database, we retrospectively identified pediatric patients (aged <2
years) who underwent diagnostic cardiac catheterization for ventricular septal defect between July
2010 and March 2019. The composite outcome was the occurrence of severe complications, including
catecholamine use and intensive care unit admission, within seven days after catheterization.
Overlap weighting based on propensity scores was used to adjust for patient- and hospital-level
confounding factors. We identified 3159 patients from 87 hospitals, including 930 under general
anesthesia and 2229 under sedation. The patient- and hospital-level baseline characteristics differed
between the groups. After adjustment, the proportion of patients with severe complications was
significantly higher in the general anesthesia group than in the sedation group (2.4% vs. 0.6%; risk
difference, 1.8% [95% confidence interval, 0.93–2.6%]). Severe complications occurred more frequently
in the general anesthesia group than in the sedation group. Further research on anesthetic
methods is necessary to assess the safety and accuracy of pediatric diagnostic cardiac catheterization.博士(医学)・甲第867号・令和5年3月15
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