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Brain drug delivery from the nasal olfactory region is enhanced using lauroylcholine chloride: An estimation using in vivo PET imaging
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科thesi
Comparative analysis of changes in spinal dimensions following different correction methods in adult spinal deformity surgery
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科thesi
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（光医工学）doctoral医学系研究科thesi
A Case Report of Immediate Allergy to Baloxavir (Xofluza®) Confirmed by Drug Provocation Test
Get PDFバロキサビルは2018年に発売された新規の抗インフルエンザウイルス薬であり，即時型アレルギーの報告は少ない．12歳女児がインフルエンザA型に罹患した際，初めてバロキサビルを服用し，服用75分後に全身の膨疹と咳嗽が誘発された．2か月後に実施した皮膚プリックテスト（バロキサビル 10mg/mL）は陰性だったが，薬物誘発試験（バロキサビル 40mg）では，内服75分後に咳嗽，喘鳴，および全身の膨疹が出現し，即時型薬物アレルギーと診断した．本症例を通じて，バロキサビルが初回服用でも即時型アレルギー反応を誘発する可能性があることを周知する目的で報告する．Baloxavir, a new anti-influenza virus drug, was released in 2018. Reports of immediate allergic reactions are rare, and the underlying mechanism of allergy remains unknown. A 12-year-old girl with influenza A was administered baloxavir for the first time and developed a generalized urticarial rash and cough after 75minutes. The skin prick test for baloxavir (10mg/mL) yielded a negative result. However, a drug provocation test with baloxavir (40mg) was conducted, and 75minutes after dosing, the patient developed coughing, wheezing, and a generalized urticarial rash, leading to a diagnosis of immediate allergy. Despite the absence of prior sensitization, immediate-type allergy should be considered as a differential diagnosis, even upon the first administration.journal articl
A case of 9p trisomy with global developmental delay, dysmorphic facial features, and ventricular septal defect
Get PDF全般性発達遅滞と先天性心疾患，小奇形を呈する患児に対し全エクソーム解析を行い，コピー数解析プログラムおよび定量PCRにおいて9番染色体短腕のコピー数増加を同定した．染色体G分染法およびSKYの結果から9pトリソミーと診断した．9pトリソミーは4番目に頻度の高い常染色体トリソミーであり，発達遅滞，頭蓋顔面異形成，骨格異常，てんかんや脳形態異常などの中枢神経系異常，先天性心疾患などを呈する．9pトリソミーは，多くの場合，親の均衡型転座に由来する．しかし本例においては明らかな相互転座は認めず，de novoである可能性が高いと考えられた．原因不明の知的障害に多発奇形徴候を合併する場合は，G分染法などで染色体の数的異常/構造異常を確認し，異常を認めない場合に網羅的遺伝子解析に進むというアルゴリズムが推奨される．We performed whole exome sequencing on a patient with global developmental delay, congenital heart defects and dysmorphic features, and identified a copy number gain on 9p using a copy number analysis program and quantitative PCR. Based on the results of his chromosomal G-banding and SKY analysis, we diagnosed him with 9p trisomy. 9p trisomy is the fourth most common autosomal trisomy and is typically associated with developmental delay, craniofacial dysmorphism, skeletal abnormalities, central nervous system disorders such as epilepsy and brain malformations, and congenital heart defects. This condition often results from a balanced translocation in one parent; however, no apparent reciprocal translocation was observed in our patient, suggesting a de novo origin. In cases of multiple dysmorphic features in patients with unexplained mental retardation, it is advisable to confirm chromosomal numerical and structural abnormalities by G-banding or other methods, and to proceed with comprehensive genetic analysis if no abnormalities are found.journal articl
A Case of Nephrotic Syndrome with Primary Peritonitis Caused by Streptococcus pneumoniae Serotype 15B/C
Get PDF基礎疾患のある小児に対して23価莢膜多糖体肺炎球菌ワクチン（PPSV23）の追加接種が推奨されてきたが， 2024年8月から沈降20価肺炎球菌結合型ワクチン（PCV20）の追加接種が本邦で可能となった．ワクチンの選択についてはガイドラインでの推奨がなく，現場の裁量に委ねられているのが現状である．症例はネフローゼ症候群初発の2歳男児．ステロイド治療開始から4日目に発熱，腹痛，嘔吐を呈し，血液培養からStreptococcus pneumoniaeが検出された．同菌による原発性腹膜炎と診断し，計2週間の抗菌薬治療を行った．本児は沈降13価肺炎球菌結合型ワクチン（PCV13）を4回接種済であったが，今回検出されたS.pneumoniaeの莢膜血清型は「15B/C」であり，PCV13非含有血清型，PCV20及びPPSV23含有血清型であった．小児に対するPPSV23接種の免疫原性が限定的であるため，本児にはPCV20を接種する方針とした．今後は症例を集積し，接種推奨について検討する必要がある．An additional dose of the 23-valent pneumococcal polysaccharide vaccine (PPSV23) is recommended for children with underlying medical conditions. However, since August 2024, vaccination with the 20-valent pneumococcal conjugate vaccine (PCV20) has also become available for the same indication in Japan. Currently, there are no guideline recommendations regarding vaccine selection, and the choice of vaccine is left to the discretion of the physician. A 2-year-old boy was referred to our hospital with chief complaints of edema and lack of vitality. He was diagnosed with nephrotic syndrome and started on steroid therapy. On the fourth day of admission, he developed fever, abdominal pain, and vomiting. Blood culture revealed Streptococcus pneumoniae, leading to a diagnosis of primary peritonitis. The patient was treated with antimicrobial agents for a total of two weeks. The capsular serotype of S. pneumoniae identified in this case was “15B/C”, which is not included in PCV13 but is covered by both PCV20 and PPSV23. Due to the limited immunogenicity of PPSV23 in children, we decided to vaccinate him with PCV20. Accumulating further cases and fostering discussions on immunization recommendations will be critical moving forward.journal articl
A preterm infant with congenital syphilis born to a mother who was untreated during pregnancy: acute-phase complications and long-term neurodevelopmental outcomes
Get PDF梅毒合併妊婦に対して，妊娠中に無治療であると子宮内胎児死亡，死産，新生児死亡，早産のリスクが高まる．無治療妊婦から出生した児の約15%に先天梅毒の症状・所見を呈することが報告されているが，その多彩な合併症や神経発達予後に関する報告は少ない．症例は在胎33週4日，出生体重1,584g の女児．出生後に敗血症所見を呈するとともに新生児遷延性肺高血圧症を合併して，抗菌薬投与と一酸化窒素吸入療法を含めた集中管理を要した．妊娠中無治療母体からの出生，身体所見，骨X線所見，梅毒血清反応所見から先天梅毒と診断し，ベンジルペニシリンカリウム 5万単位/kg/日を計10日間投与した．頭部MRIや自動聴性脳幹反応検査では異常所見を認めず，修正3歳までの発達検査では明らかな発達遅延はなかったが，暦5歳の知能検査ではIQ78であり軽度知的障害が示唆された．本論文では，本症例における急性期合併症と神経発達予後について，先天梅毒との関連を文献的考察を加えて報告する．Untreated maternal syphilis during pregnancy increases the risk of intrauterine fetal death, stillbirth, neonatal death, and preterm birth. Approximately 15% of infants born to untreated pregnant women develop symptoms or findings of congenital syphilis; however, there are few reports on its diverse complications and long-term neurodevelopmental outcomes. The patient was a female infant born at 33 weeks and 4 days of gestation, with a birth weight of 1,584 g. The infant developed signs of sepsis and persistent pulmonary hypertension of the newborn, requiring intensive care, including antibiotic therapy and inhaled nitric oxide treatment. Born to an untreated mother, the infant was diagnosed with congenital syphilis based on physical and radiological findings and serological tests and was treated with benzylpenicillin potassium at 50,000 units/kg/day for 10 days. Brain MRI and automated auditory brainstem response testing showed no abnormalities. While developmental assessments up to the corrected age of three years revealed no significant delays, an intelligence test at five years of chronological age indicated a mild intellectual disability with an IQ of 78.
This report discusses the acute-phase complications and neurodevelopmental outcomes of this case in relation to congenital syphilis, with a review of the relevant literature.journal articl
Dietary iron restriction protects against aneurysm rupture in a mouse model of intracranial aneurysm
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科thesi
A validated surrogate analyte LC-MS/MS assay for nicotine in eight human organs combined with QuEChERS extraction
Get PDF浜松医科大学Hamamatsu University School of Medicine博士（医学）doctoral医学系研究科thesi