胎盤における甲状腺ホルモントランスポーターの発現と早産児甲状腺機能の関連に関する検討

雑誌掲載

Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.

AuthorHeterozygous COL2A1 mutations create a group of skeletal dysplasias collectively termed type II collagenopathies. Sporadic cases of type II collagenopathies are almost exclusively caused by de novo mutations. Very few cases with intrafamilial recurrence due to germinal mosaicism have been known. We report here on a family in which a severe form of skeletal dysplasia was recurrent in two sibs whose phenotype was most consistent with platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T). A COL2A1 analysis showed that the two sibs had a heterozygous mutation in the triple helical region of COL2A1, c.3545G>A (p.G1182A) in exon 50. The parents did not consent to a molecular analysis; however, the presence of the same mutation in the two sibs is proof of germinal mosaicism in one of the parents. PLSD-T has been believed to arise from a heterozygous dominant negative mutation in the C-propeptide region of COL2A1. However, our observation suggests that the phenotype is also caused by a mutation in the C-terminal triple helical region of COL2A1

Congenital basal meningoceles with different outcomes: a case series

Abstract Background Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis. Case presentation We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl. One of our patients died of sepsis due to traumatic rupture of the meningocele during nasal suction. His meningocele remained undiagnosed until it resulted in the fatal complication. The other patients underwent surgical repair without any complications. Their meningoceles were complicated by midfacial anomalies including cleft palate and hypertelorism, or a sign of nasal obstruction such as snoring. Conclusions These clinical features may be a clue to the early diagnosis of congenital basal meningocele, which enables its safe preoperative management and provides an opportunity for surgical repair before the condition results in serious complications

Sequential changes in pathophysiology of systemic inflammatory response in a disseminated neonatal herpes simplex virus (HSV) infection

AuthorBACKGROUND: Disseminated neonatal herpes simplex virus (HSV) infection causes a typical systemic inflammatory response syndrome and has a high mortality rate. However, the validity of anti-inflammatory intervention against this condition remains unknown. OBJECTIVES: We sought to demonstrate the sequential changes in the pathophysiology of disseminated neonatal HSV infections. STUDY DESIGN: The HSV serum copy number as well as high-mobility group box 1 (HMGB1) and cytochrome c concentrations, which predict the severity and mortality rate of sepsis, were sequentially evaluated in a patient with disseminated neonatal HSV infection caused by HSV-2. RESULTS: As the patient presented with evidence of hyper-inflammation and severe illness, we empirically undertook anti-inflammatory intervention that included the administration of prednisolone, high-dose immunoglobulin, and blood exchange therapy in addition to high-dose acyclovir (ACV) therapy. The patient survived without significant neurological sequela. We found that (1) the serum concentrations of both HMGB1 and cytochrome c were extremely high, (2) temporal increases in these biomarkers were observed after admission, and (3) interestingly, the increase in HMGB1 level preceded that of cytochrome c. These results suggested that the pathophysiology of this condition changed sequentially in a dramatic manner, and the timing of our anti-inflammatory intervention was prior to the transition of pathological status from hyper-inflammation to massive apoptosis. CONCLUSIONS: Anti-inflammatory intervention may only be effective if it is undertaken during the early phase of disseminated neonatal HSV infections

当科で経験した航空機搬送の2例

出版社版症例1(日齢8男児).在胎39週4日,3224gで出生.完全大血管転位(TGA)と診断され,日齢3に著者らのNICUに搬送された.心エコー検査ではTGA II型,心房中隔欠損(ASD),動脈管開存(PDA)と診断され,TGA II型に対する一期的根治術を目的に日齢8に民間航空機で福岡市立こども病院へ搬送された.搬送中に約10%のSpO2低下を認めたが全身状態に影響なく,転院5日後に根治術を施行し,転院22日後には退院となった.症例2(日齢43男児).在胎30週1日,1058gで双胎第1子として出生.日齢3に著者らのNICUに転院となった.心エコーではPDA,大動脈縮窄(CoA)と診断され,インドメタシン投与でPDAは閉鎖傾向を認めたが,CoAは狭小化し後負荷不適合による全身状態急変が懸念された.そのため日齢43に自衛隊輸送機で長野県立こども病院へ搬送されることとなった.搬送中,SpO2の低下はなく,転院8日後に施術となり,転院71日後には退院となっ

心の健康問題と成長曲線との関連について

出版社版平成16年に経験した倦怠感や頭痛,腹痛により不登校となった8例の成長曲線を記録し,どの段階で身長・体重増加率に変化が生じるかを検討した.心の健康問題が明らかにあった6例のうち,5例では身体症状が出現する前から体重増加率の減少があり,表向きの理由の背景には学業不振や両親の不和などが潜んでいた.しかし,6例とも身長増加率の低下はなかった.心の健康問題が明らかではない2例では,身体症状が出現する以前の成長曲線に問題はなかった.不登校児に対しても,成長曲線に変化が出現した時期を示して病歴の聴取やカウンセリングを行うことは隠されたライフイベントを探ることに有用であると考えられ

当院における脳低温療法施行症例の臨床的検討

雑誌掲載版当院で脳低温療法導入後5年間に脳低温療法を行った10例について検討した。予後良好6例,予後不良4例で,10例中8例は重篤な有害事象なく脳低温療法を施行できた。予後による比較ではSarnat分類II度とIII度で差を認めた他,院外出生児,高乳酸血症遷延例で予後不良の傾向が認められた。様々な予後の症例が含まれる中等度〜重度の低酸素性虚血性脳症児から脳低温療法適応症例を的確に判断できる指標はまだなく,その確立は今後の重要な課題である。また院外出生仮死児のさらなる予後改善のためには,広域な医療圏をカバーする迅速な新生児搬送体制の整備や新生児蘇生法の普及も重要と思われた