Keisuke Sugimoto
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View article: A case of neonatal essential tongue tremor diagnosed due to poor feeding
A case of neonatal essential tongue tremor diagnosed due to poor feeding Open
We encountered a case of a neonate diagnosed with essential tongue tremor due to involuntary movements of the tongue and poor oral feeding immediately after birth. Reports of pediatric-onset essential tongue tremor, particularly neonatal-o…
View article: Phase II Study of Platinum Re-administration in Non-small Cell Lung Cancer Following Chemoimmunotherapy Resistance
Phase II Study of Platinum Re-administration in Non-small Cell Lung Cancer Following Chemoimmunotherapy Resistance Open
View article: The Clinical Significance of Interstitial Pneumonia with Autoimmune Features in Cryptogenic Organizing Pneumonia: A Prospective Multicenter Observational Study
The Clinical Significance of Interstitial Pneumonia with Autoimmune Features in Cryptogenic Organizing Pneumonia: A Prospective Multicenter Observational Study Open
Background: There are cases of idiopathic interstitial pneumonias (IIPs) that do not meet the diagnostic criteria for connective tissue disease but have clinical features suggestive of autoimmune process. Interstitial pneumonia with autoim…
View article: Correction: Pathologic tonsillar findings similar to IgA nephropathy and the role of tonsillectomy in a patient with nephrotic syndrome
Correction: Pathologic tonsillar findings similar to IgA nephropathy and the role of tonsillectomy in a patient with nephrotic syndrome Open
View article: Potentially protein-destabilizing C3 polymorphism in a case of atypical hemolytic uremic syndrome with life-threatening extrarenal manifestations
Potentially protein-destabilizing C3 polymorphism in a case of atypical hemolytic uremic syndrome with life-threatening extrarenal manifestations Open
Background : Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease caused by uncontrolled complement activation. It is frequently associated with a genetic factor including various polymorphisms at the C3 gene locus…
View article: Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy
Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy Open
View article: #4317 CLINICAL DIVERSITY OF STEROID-RESISTANT NEPHROTIC SYNDROME CAUSED BY TRPC6 MUTATIONS
#4317 CLINICAL DIVERSITY OF STEROID-RESISTANT NEPHROTIC SYNDROME CAUSED BY TRPC6 MUTATIONS Open
Background and Aims Steroid-resistant nephrotic syndrome (SRNS) is a clinically and genetically heterogeneous disorder caused by either genetic or immunological factors or their combination. Approximately 30–40% of patients with SRNS make …
View article: Pirarubicin Combination Low-Dose Chemotherapy for Early Infantile Stage MS Neuroblastoma: Case Report
Pirarubicin Combination Low-Dose Chemotherapy for Early Infantile Stage MS Neuroblastoma: Case Report Open
Neuroblastoma (NB) is a neural crest-derived malignant tumor which is diagnosed during infancy in approximately 40% of cases; spontaneous regressions are observed, but there are varying degrees of severity. Treatment is indicated if an inf…
View article: A Randomized Phase II Study of Afatinib Alone or Combined with Bevacizumab for Treating Chemo-Naïve Patients with Non-Small Cell Lung Cancer Harboring EGFR Mutations
A Randomized Phase II Study of Afatinib Alone or Combined with Bevacizumab for Treating Chemo-Naïve Patients with Non-Small Cell Lung Cancer Harboring EGFR Mutations Open
View article: Challenges to allogeneic hematopoietic stem cell transplantation in a patient with GATA2 deficiency and persistent Epstein-Barr virus infection
Challenges to allogeneic hematopoietic stem cell transplantation in a patient with GATA2 deficiency and persistent Epstein-Barr virus infection Open
The germline Guanine-adenine-thymine-adenine 2 (GATA2) heterozygous mutations (GATA2 deficiency) are identified as a complex immunodeficiency, which entails susceptibility to non-tuberculous mycobacterium (NTM), fungus, or Epstein-Barr vir…
View article: Florid cemento-osseous dysplasia associated with multiple impacted teeth in a Japanese female
Florid cemento-osseous dysplasia associated with multiple impacted teeth in a Japanese female Open
Rationale: Florid cemento-osseous dysplasia (FCOD) is a rare, benign, multifocal fibro-osseous dysplastic process affecting the tooth-bearing areas of the jaw. Although FCOD is often symmetrically located in various regions of the jaw, cas…
View article: Evaluation of oral food challenge doses adjusted by egg white specific IgE for diagnosing egg allergy in infants: case series study
Evaluation of oral food challenge doses adjusted by egg white specific IgE for diagnosing egg allergy in infants: case series study Open
【背景】食物アレルギー診療ガイドライン2016では食物経口負荷試験(OFC)の総負荷量として少量,中等量,日常摂取量で例示されているが,患者の背景因子から選択する明確な規定はない.本研究では,鶏卵総負荷量の選択における特異的IgE(sIgE)の有用性について検討した.
View article: A case of suspected a non-IgE-mediated gastrointestinal food allergy caused by formula milk for a low birth weight
A case of suspected a non-IgE-mediated gastrointestinal food allergy caused by formula milk for a low birth weight Open
【緒言】低出生体重児用ミルク:FM-LBWは,栄養価に優れるため,主に新生児集中治療室で使用される.
View article: Kimura’s disease with recurrent bilateral lacrimal gland involvement in a male Japanese child successfully treated with cyclosporine A
Kimura’s disease with recurrent bilateral lacrimal gland involvement in a male Japanese child successfully treated with cyclosporine A Open
View article: Egg Reintroduction Following Oral Food Challenge in Japanese Children
Egg Reintroduction Following Oral Food Challenge in Japanese Children Open
Background: Oral food challenge (OFC) is the most reliable method for diagnosing food allergies. However, the scarcity of long-term data on eating habits of people after a negative OFC poses a challenge for provisional medical care. Object…
View article: Nephrotic syndrome relapse in a boy with COVID-19
Nephrotic syndrome relapse in a boy with COVID-19 Open
View article: Kimura’s Disease With Recurrent Bilateral Lacrimal Gland Involvement in a Male Japanese Child Successfully Treated With Cyclosporine A
Kimura’s Disease With Recurrent Bilateral Lacrimal Gland Involvement in a Male Japanese Child Successfully Treated With Cyclosporine A Open
BackgroundKimura’s disease (KD) is a rare chronic inflammatory disease of unknown etiology. Clinically, KD is characterized by nodular subcutaneous masses, typically localized to the neck and head. Involvement of the lacrimal glands and li…
View article: Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report
Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report Open
View article: English Session 部門 受賞者 奥田雄介
English Session 部門 受賞者 奥田雄介 Open
Background] Epidemiological information on clinical characteristics of nephronophthisis in children is scant.[Methods] We obtained and summarized clinical data for children with nephronophthisis by a national survey of pediatric facilities…
View article: A case of severe hydronephrosis managed as cystic kidney disease
A case of severe hydronephrosis managed as cystic kidney disease Open
先天性水腎症をはじめとする泌尿生殖器の先天異常は，胎児超音波検査で診断される最も一般的な形態異常であるが，囊胞性腎疾患との鑑別に困難な例も少なくない．症例は 2 歳男児．胎児期に水腎症を指摘されていたが，囊胞性腎疾患の家族歴があったため，同疾患として経過観察されていたが，再評価を目的に当院に紹介となった．精査の結果，左腎盂尿管移行部通過障害，および高度の腎盂拡張を認め，高度水腎症と診断した．MAG3 シンチグラムにて，分腎機能<40％，尿ドレナージ不良であり，1 歳時に腎盂…
View article: The potentially therapeutic role of tonsillectomy in the alleviation of several renal diseases apart from IgA nephropathy
The potentially therapeutic role of tonsillectomy in the alleviation of several renal diseases apart from IgA nephropathy Open
Tonsils are located mainly at the gateway of the respiratory tract, and are reportedly one of the secondary lymphatic organs of the immune system. The development of several diseases including IgA nephropathy (IgAN) is associated with infl…
View article: Right Ventricular Outflow Obstruction by a Membranous Septal Aneurysm in a Ventricular Septal Defect
Right Ventricular Outflow Obstruction by a Membranous Septal Aneurysm in a Ventricular Septal Defect Open
巨大な膜様部中隔瘤による右室流出路狭窄を合併した心室中隔欠損の一例を経験した.症例は5歳の女児で,出生時に心雑音を聴取し,心房中隔欠損,膜性部心室中隔欠損,大動脈縮窄症と診断した.生後51日に短絡量が少ない心房中隔欠損と心室中隔欠損は経過観察とし大動脈縮窄の手術を行っている.4歳時の健診で心室中隔から右室流出路に張り出した嚢状の膜様部中隔瘤を認め,心臓カテーテル検査を施行,肺体血流比は1.0であったが右室収縮期圧は79 mmHg,肺動脈収縮期圧26 mmHgと右室流出路狭窄…
View article: SARS-CoV-2 infection associated with the recurrence of nephrotic syndrome in a Japanese boy
SARS-CoV-2 infection associated with the recurrence of nephrotic syndrome in a Japanese boy Open
View article: Markedly Increased Small Dense Low-Density Lipoprotein During Acute Phase in Childhood and Adolescent Nephrotic Syndrome
Markedly Increased Small Dense Low-Density Lipoprotein During Acute Phase in Childhood and Adolescent Nephrotic Syndrome Open
Background : Hyperlipidemia is an important characteristic feature of idiopathic nephrotic syndrome (NS) in children. This study was conducted to examine the lipid profiles, including small dense low-density lipoprotein (sdLDL-C), in child…
View article: Evaluation of methods for an oral food challenge with 8 g of hen's egg whites boiled for 20 min for hen's egg allergy in patients with egg white-specific IgE class 3 and 4 levels
Evaluation of methods for an oral food challenge with 8 g of hen's egg whites boiled for 20 min for hen's egg allergy in patients with egg white-specific IgE class 3 and 4 levels Open
【背景】食物経口負荷試験(OFC)の方法は各施設で総負荷量や摂取回数,摂取間隔を設定しており,この違いが結果に影響を与えることが考えられる.
View article: Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion Open
View article: Role of cathepsin L in idiopathic nephrotic syndrome in children
Role of cathepsin L in idiopathic nephrotic syndrome in children Open
Nephrotic syndrome (NS) is one of the most common glomerular diseases in children. Glomerular podocyte dysfunction can result in proteinuria, the presence of a large amount of protein in the urine. Podocytes are unique epithelial cells tha…
View article: Membranoproliferative glomerulonephritis related to a streptococcal infection in a girl with IgA deficiency: a case report
Membranoproliferative glomerulonephritis related to a streptococcal infection in a girl with IgA deficiency: a case report Open
View article: Association of the clinicopathologic features and mitochondrial disorders in 8 cases with a low birth weight history
Association of the clinicopathologic features and mitochondrial disorders in 8 cases with a low birth weight history Open
早産・低出生体重児関連腎症の腎組織像は寡少糸球体，巣状分節性糸球体硬化(focal segmental glomerulosclerosis: FSGS) を主な特徴とする．病理像がミトコンドリア(Mt)腎症の組織像と類似することから，病態形成に Mt 障害が関与すると考えられている．今回，早産・低出生体重の出生歴を有した 8 例を対象に，Mt 障害の指標として COX4，TFAM を含む組織評価を行い，臨床像との関連性を検討した．腎組織では，平均糸球体数は 3.2 個/m…
View article: A child case of Becker muscular dystrophy with left hydronephrosis and giant ureter discovered by macroscopic hematuria
A child case of Becker muscular dystrophy with left hydronephrosis and giant ureter discovered by macroscopic hematuria Open
今回我々は，肉眼的血尿を契機に左水腎症と巨大尿管を発見し，さらに Becker 型筋ジストロフィ(Becker muscular dystrophy: BMD)を合併していた小児例を経験した．症例は 8 歳男児．初めての肉眼的血尿を主訴に来院した．超音波検査にて左水腎症(SFU 分類 Grade 2)と巨大尿管を指摘され，CT-urography で左腎尿管移行部狭窄を認めた．腸管などの外部からの圧迫や腫瘍がなく，先天性腎尿路異常(CAKUT)と診断した．生来健康で身体所見…