Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本先天代謝異常学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：愛媛県小児科医会  

胃癌一次予防の一環として、愛媛県西条市では、2017年度より中学2年生を対象としたヘリコバクター・ピロリ検診が開始された。方法は、希望者に一次検診(尿中ピロリ抗体検査)を無料で行い、陽性者に二次検診(尿素呼気試験)を実施し、両者とも陽性をピロリ感染者と判定し、希望者に除菌療法を行う形で行われた。初年度の受診者は386名(受診率37.7%)、一次検診陽性者は18名(陽性率:4.7%)で、そのうち10名が当院を受診した。二次検診で4名が陽性(40.0%)でピロリ感染者と判定した。4名とも消化器症状の既往はなかったが、1名に頭痛を認めた。4名のうち2名は胃癌の家族歴が濃厚であった。4名全員に上部消化管内視鏡検査を施行し、典型的な萎縮性胃炎の所見を認め、1名では胃潰瘍瘢痕を伴った。プロトンポンプ阻害薬(PPI)+アモキシシリン(AMPC)+クラリスロマイシン(CAM)による一次除菌療法を行い、2名は除菌成功、2名は不成功でPPI+AMPC+メトロニダゾール(MNZ)による二次除菌療法を施行し、除菌に成功した。治療に伴う重篤な副作用は認めなかった。今回開始された検診事業は、無症状や家族歴のない症例におけるピロリ菌感染の早期発見・早期除菌という意味では有用と考えられたが、受診率の低さ、一次検診の偽陽性率の高さ、小児適応のない薬剤を用いる倫理的問題など課題もあり、今後検討を重ねたい。(著者抄録)

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：English   Publishing type：Research paper (scientific journal)  

DOI： 10.1111/ped.15116

PubMed

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Publishing type：Research paper (scientific journal)   Publisher：Japanese Society for Pediatric Endocrinology  

DOI： 10.1297/cpe.2021-0036

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Language：Japanese   Publisher：(一社)日本内分泌学会  

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Language：Japanese   Publisher：(株)へるす出版  

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Other Link： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2021&ichushi_jid=J00644&link_issn=&doc_id=20210823230010&doc_link_id=2102172&url=https%3A%2F%2Fkango-sakuin.nurse.or.jp%2Fnid%2F2102172&type=%8D%C5%90V%8A%C5%8C%EC%8D%F5%88%F8Web&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00014_1.gif

Language：Japanese   Publisher：(株)へるす出版  

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Other Link： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2021&ichushi_jid=J00644&link_issn=&doc_id=20210823230013&doc_link_id=2102174&url=https%3A%2F%2Fkango-sakuin.nurse.or.jp%2Fnid%2F2102174&type=%8D%C5%90V%8A%C5%8C%EC%8D%F5%88%F8Web&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00014_1.gif

Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Background. Staphylococcus lugdunensis is one of the clinically important coagulase-negative staphylococci. The purpose of this study was to elucidate the microbiological features of S. lugdunensis in hospitalized children. Methods. From January 2012 to December 2019, all isolates were retrospectively screened for S. lugdunensis. Results. Twenty-five children were eligible for study. Nineteen and six children were classified into a critical care unit group (Group A) and a general medical ward group (Group B), respectively. The prevalence of methicillin-resistant S. lugdunensis was significantly higher in Group A than in Group B (68.4% vs 0%; P < .01). Eleven children (44%) had S. lugdunensis infections, while the remaining children were colonized. Six of the 11 infected children (55%) had healthcare-associated infections. Moreover, 3 isolates exhibited the methicillin resistance. Conclusions. The bacteriological characteristics of S. lugdunensis differ depending on patient background. Selection of antibiotic treatment should in part rely on patient background data.

DOI： 10.1177/2333794X211044796

PubMed

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Publishing type：Research paper (scientific journal)   Publisher：Springer Science and Business Media {LLC}  

<title>Abstract</title>
We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with bilateral iris depigmentation, bilateral sensorineural hearing loss, Hirschsprung disease, hypogonadotropic hypogonadism, and anosmia. We identified a novel <italic>SOX10</italic> variant, c.124delC, p.Leu42Cysfs*67.

DOI： 10.1038/s41439-020-00118-6

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Other Link： http://www.nature.com/articles/s41439-020-00118-6

Language：English   Publishing type：Research paper (scientific journal)  

DOI： 10.1111/ped.14247

PubMed

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese   Publisher：(一社)日本内分泌学会  

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：English   Publishing type：Research paper (scientific journal)  

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Japan Diabetes Society  

We assessed the recognition of readiness for transition to adult healthcare services among adolescents with type 1 diabetes and their parents. We conducted a self-administered questionnaire survey in 27 patients with type 1 diabetes (aged 12-20 years) and their parents. The survey assessed the patient's readiness and willingness to shift to adult healthcare service. Among parents, we assessed the recognition of their child's readiness for transition and intention to have their child transition. The median total scores for knowledge about readiness were 34 (16-44) (patients) and 33 (25-41) (parents), and the scores for behavior were 29 (19-45) (patients) and 30 (21-42) (parents). These scores as well as every item score did not differ significantly. It is presumed that parents appropriately grasped their child's readiness. However, only 5 patients (18.5 %) answered that they were ready, and 6 (22.2 %) showed a willingness to transition. Only 8 parents (29.6 %) answered that they intended to have their child transition. Thus, patients should be prepared for the transition to adult healthcare services at an early stage.

DOI： 10.11213/tonyobyo.63.41

Scopus

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Language：English  

Brain abscesses, infections within the brain parenchyma, can arise as complications of various conditions including infections, trauma, and surgery. However, brain abscesses due to polymicrobial organisms have rarely been reported in children. We herein report a case of a 9-year-old girl with unresolved congenital cyanotic heart disease (CCHD) presenting with right hemiplegia who was diagnosed with brain abscess caused by Streptococcus intermedius, Parvimonas micra, and Fusobacterium nucleatum after oropharyngeal injury. She was treated with intravenous antimicrobial therapy, drainage under craniotomy, and antiedema therapy with glycerol and goreisan, which led to the improvement of right hemiplegia to baseline; she was discharged following eight weeks of intravenous antimicrobial therapy. The clinical diagnosis of the brain abscess was difficult due to the nonspecific presentation, highlighting the importance of cranial imaging without haste in patients at increased risk for brain abscesses such as those with CCHD, presenting with fever in the absence of localizing symptoms or fever, accompanied with abnormal neurological findings.

DOI： 10.1155/2020/8304302

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Language：English   Publishing type：Research paper (scientific journal)  

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.

DOI： 10.1038/s10038-019-0667-4

PubMed

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese   Publisher：愛媛医学会  

若年発症成人型糖尿病2型(maturity-onset diabetes of the young type 2:MODY2)は軽度の空腹時高血糖が若年より出現するが、糖尿病自体は軽症で罹病期間が長くなっても重症化せず、血管合併症も少ないことが特徴で、見逃されている症例が多いと推測される。今回我々は、低身長精査時の採血において、偶然に軽度の空腹時高血糖を認めたことより糖尿病を疑い、遺伝子解析によりMODY2と診断し得た姉妹例を経験した。MODY2は、日本における頻度は非常に稀とされていたが、近年学校検尿の尿糖陽性や偶然の高血糖を契機に発見される症例が増加傾向にある。濃厚な家族歴を認めなくても、膵島関連自己抗体陰性で耐糖能異常をより若年で発症する非肥満小児では、本疾患を念頭におくことが重要であると考えられた。(著者抄録)

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Jeff Corporation Co. Ltd  

Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been identified as the cause of some types of skeletal dysplasia, which is diagnostically useful. Here, we report the case of a 3-yr-old Japanese boy who presented with AN. His height, weight, head circumference, and arm span were 91.7 cm (–1.95 SD), 16.3 kg, 54.0 cm (+2.6 SD), and 88.0 cm, respectively. In addition to the AN, he also exhibited a mild height deficit and macrocephaly, which prompted a search for FGFR3 mutations, although no skeletal disproportion, exaggerated lumbar lordosis, or facial dysmorphism was observed, and only slight radiological abnormalities were noted. A definitive diagnosis of HCH was made based on FGFR3 gene analysis, which detected a heterozygous K650T mutation. Insulin insensitivity was not found to have contributed to the development of AN. In individuals with AN, careful assessments for symptoms of HCH are important, regardless of the presence or absence of a short stature, and FGFR3 gene analysis is recommended in such cases.

DOI： 10.1297/cpe.26.223

Scopus

PubMed

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：WILEY-BLACKWELL  

Aims/Introduction: Resistin, secreted from adipocytes, causes insulin resistance in mice. In humans, the resistin gene is mainly expressed in monocytes and macrophages. Tunicamycin is known to induce endoplasmic reticulum (ER) stress, and reduce resistin gene expression in 3T3-L1 mouse adipocytes. The aim of the present study was to examine whether ER stress affects resistin gene expression in human monocytes.
Materials and Methods: The relationship between resistin messenger ribonucleic acid (mRNA) and ER stress markers mRNA was analyzed by reverse transcription polymerase chain reaction in isolated monocytes of 30 healthy volunteers. The effect of endotoxin/lipopolysaccharides or tunicamycin on resistin gene expression was analyzed in THP-1 human monocytes. Signaling pathways leading to resistin mRNA were assessed by the knockdown using small interfering RNA or overexpression of key molecules involved in unfolded protein response.
Results: Resistin mRNA was positively associated with immunoglobulin heavy chain-binding protein (BiP) or CAAT/enhancer binding protein-alpha homologous protein (CHOP) mRNA in human isolated monocytes. In THP-1 cells, lipopolysaccharides increased mRNA of BiP, pancreatic endoplasmic reticulum eukaryotic initiation factor 2 alpha kinase (PERK) and CHOP, as well as resistin. Tunicamycin also increased resistin mRNA. This induction appeared to be dose-and time-dependent. Tunicamycin-induced resistin mRNA was inhibited by chemical chaperone, 4-phenylbutyric acid. The knockdown of either PERK, activating transcription factor 4 (ATF4) or CHOP reduced tunicamycin-induced resistin mRNA. Conversely, overexpression of ATF4 or CHOP increased resistin mRNA.
Conclusions: Endoplasmic reticulum stress induced by tunicamycin increased resistin mRNA through the PERK-ATF4-CHOP pathway in THP-1 human monocytes. ER stress could lead to insulin resistance through enhanced resistin gene expression in human monocytes.

DOI： 10.1111/jdi.12434

Web of Science

PubMed

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Language：English   Publisher：AMER DIABETES ASSOC  

Web of Science

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Language：Japanese   Publisher：(有)医学の世界社  

CiNii Books

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Other Link： http://search.jamas.or.jp/link/ui/2016258061

Language：Japanese   Publisher：(有)医学の世界社  

Kallmann症候群(KS)の責任遺伝子は、これまでにKAL1遺伝子、FGFR1遺伝子、FGF8遺伝子、PROKR2遺伝子、PROK2遺伝子などが報告されている。一方、PintoらによりCHARGE症候群の患者がKSの中核症状をしばしば有することが示され、緒方らによりKSの表現型を有するCHARGE症候群患者でCHD7遺伝子変異が同定され、CHD7遺伝子が非典型的KSの病因になりうることが示唆された。今回著者等は、半規管・前庭・蝸牛の低形成や耳介奇形、先天性難聴などCHARGE徴候の一部を有するKS女児においてCHD7遺伝子変異を同定したので、文献的考察を加えて報告した。

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Language：Japanese   Publisher：(一社)日本糖尿病学会  

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Language：Japanese  

CiNii Books

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公財)成長科学協会  

亜鉛欠乏と低身長症との関係について検討した。成長ホルモン(GH)分泌刺激試験を施行した111名(男児71名、女児40名、平均8.2歳)を対象に解析を行った。亜鉛欠乏群は亜鉛正常群に比して有意に身長SDスコアが低かったが、成長ホルモン分泌不全症(GHD)と非GHDの比較では亜鉛の値に有意差は認めなかった。亜鉛欠乏群と正常群で、骨年齢を暦年齢で除した比の値(骨年齢/暦年齢)を比較したところ有意差は認められず、亜鉛欠乏群と正常群でIGF-1 SDスコアに有意差を認めなかった。また、Target heightと亜鉛値に相関関係は認めなかった。さらに、身長SDスコアを骨年齢/暦年齢比(A)、IGF-1 SDスコア(B)、Target height(C)、Zn値(D)で回帰分析を行ったところ、身長SDスコア=-4.36+0.47(A)+0.035(B)+0.0073(C)+0.0024(D)となり、Zn値(p=0.5695)であり、身長SDスコアに対する種々のパラメータのうち、Zn値の影響は小さいと推定された。

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Language：Japanese   Publisher：(株)医学書院  

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Language：Japanese  

CiNii Books

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CiNii Books

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Other Link： http://search.jamas.or.jp/link/ui/2009116629

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