Search Our Scientific Publications & Authors

J Hum Genet 2019 Apr 19. Epub 2019 Apr 19.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it is possible for some female carriers to be symptomatic. Read More

Korean J Pediatr 2019 Apr 15;62(4):119-123. Epub 2019 Mar 15.

Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Kawasaki disease (KD) is a systemic vasculitis that mainly affects younger children. Intravenous immunoglobulin (IVIG) resistant cases are at increasing risk for coronary artery complications. The strategy on prediction of potential nonresponders and treatment of IVIG-resistant patients is now controversial. Read More

Int J Mol Sci 2019 Apr 17;20(8). Epub 2019 Apr 17.

Department of Emergency and Organ Transplantation, Rheumatology Unit, University of Bari, 70121 Bari, Italy.

Autoinflammatory diseases (AIDs) are heterogeneous disorders characterized by dysregulation in the inflammasome, a large intracellular multiprotein platform, leading to overproduction of interleukin-1(IL-1)β that plays a predominant pathogenic role in such diseases. Appropriate treatment is crucial, also considering that AIDs may persist into adulthood with negative consequences on patients' quality of life. IL-1β blockade results in a sustained reduction of disease severity in most AIDs. Read More

Exp Ther Med 2019 May 13;17(5):3580-3588. Epub 2019 Mar 13.

Department of Pediatrics, Qilu Hospital, Shandong University, Ji'nan, Shandong 250012, P.R. China.

Kawasaki disease (KD) is the leading cause of acquired heart disease in pediatric patients in developed countries. Coronary artery aneurysms and myocardial infarction may occur if the disease remains untreated. An estimated 10-20% of KD patients do not respond to intravenous gamma globulin (IVIG), and thus, alternative treatments are currently being investigated. Read More

Front Pediatr 2019 29;7:121. Epub 2019 Mar 29.

Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.

Kawasaki disease (KD) is diagnosed in children suffering from fever for more than five days and five clinical characteristic symptoms. The aim of this article was to research the clinical characteristics among KD children in Taiwan in recent years through a population-based cohort study. We carried out a nationwide retrospective cohort study by analyzing the data of KD patients (ICD-9-CM code 4461) from Taiwan's National Health Insurance Research Database (NHIRD) during the period of 1996-2011. Read More

Eur J Rheumatol 2019 Mar 10. Epub 2019 Mar 10.

Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Training and Research, Chandigarh, India.

Pharmacogenomics J 2019 Apr 11. Epub 2019 Apr 11.

Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea.

Kawasaki disease (KD) is a systemic vasculitis affecting infants and children; it manifests as fever and signs of mucocutaneous inflammation. Intravenous immunoglobulin (IVIG) treatment effectively attenuates the fever and systemic inflammation. However, 10-20% patients are unresponsive to IVIG. Read More

Emergencias 2019 Abr;31(2):111-114

Sección de Neonatología, Unidad de Gestión Clínica de Pediatría, Hospital Universitario Puerta del Mar, Cádiz, España.

Objectives: The main objective was to assess the diagnostic usefulness of age-adjusted level of N-terminal prohormone of brain natriuretic peptide (NT-proBNP) as a diagnostic marker in children suspected of having incomplete Kawasaki disease (IKD). The secondary aim was to compare the diagnostic yield of NT-proBNP level with the yield of other markers currently recommended by the American Heart Association (AHA).

Material And Methods: Descriptive cross-sectional study of a case series of patients under the age of 14 years admitted with clinical suspicion of IKD between 2013 and 2017. Read More

Front Immunol 2019 21;10:185. Epub 2019 Mar 21.

Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

The human Fc-gamma receptors (FcγRs) link adaptive and innate immunity by binding immunoglobulin G (IgG). All human low-affinity FcγRs are encoded by the locus containing functional single nucleotide polymorphisms (SNPs) and gene copy number variants. This locus is notoriously difficult to genotype and high-throughput methods commonly used focus on only a few SNPs. Read More

Case Rep Pediatr 2019 3;2019:3156736. Epub 2019 Mar 3.

Clinical Associate Professor of Pediatrics and Associate Member at the Department of Dermatology and Skin Sciences, University of British Columbia, Vancouver, Canada.

Kawasaki disease is characterized by fever for ≥ five days, bilateral bulbar conjunctival injection without exudate, polymorphous rash changes in the extremities, oral mucosal changes, and cervical lymphadenopathy. We report a 20-month-old boy with Kawasaki disease who had onychomadesis affecting the fingernails and toenails bilaterally. To our knowledge, there were three reported cases of onychomadesis associated with Kawasaki disease, to which we add another one. Read More

Pediatr Rheumatol Online J 2019 Apr 3;17(1):13. Epub 2019 Apr 3.

Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, #123 Da-Pei Road, Niaosong District, Kaohsiung, 83301, Taiwan.

Background: Kawasaki disease (KD) is the most common acute coronary vasculitis disease to occur in children. Its incidence has been attributed to the combined effects of infection, genetics, and immunity. Although the etiopathogenesis of KD remains unknown, we have performed a survey of global genetic DNA methylation status and transcripts expression in KD patients in order to determine their contribution to the pathogenesis of KD. Read More

Front Pediatr 2019 19;7:81. Epub 2019 Mar 19.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

We evaluated the ability of peripheral blood neutrophil-to-lymphocyte ratio (NLR) to predict the intravenous immunoglobulin (IVIG) resistance in Kawasaki disease (KD) patients under 1-year of age. A total of 92 KD patients under the age of 1-year and who were hospitalized in Peking University First Hospital from June 2007 to August 2016 were recruited in this study. The clinical and laboratory data were analyzed to see if peripheral blood NLR was useful for predicting the IVIG-resistance in KD. Read More

Immunol Med 2018 Mar 3;41(1):43-45. Epub 2018 Apr 3.

a Department of Pediatrics , Yamaguchi University Graduate School of Medicine , Ube , Japan.

Acute rheumatic fever (ARF), caused by group A β-hemolytic streptococcus infection, is characterized by inflammation affecting several organs. There are few reports on magnetic resonance imaging (MRI) findings in patients with ARF. An 8-year-old Japanese boy presented with a prolonged fever of unknown cause and swelling of his right hand. Read More

Eur J Pediatr 2019 Mar 28. Epub 2019 Mar 28.

Department of Management and Strategy, Clinical Research Center, National Center for Child Health and Development, Tokyo, Japan.

Kawasaki disease is an acute systemic vasculitis in children. Antiplatelet medicines are commonly used for Kawasaki disease to attenuate vasculitis and prevent thromboembolism; however, the mechanisms have not been elucidated. The objective of this study is to assess the effectiveness of antiplatelet medications for Kawasaki disease. Read More

Pediatr Int 2019 Mar 27. Epub 2019 Mar 27.

Department of Pediatrics, Graduate School of Medicine, Chiba University.

Background: There are still no definite treatments for refractory Kawasaki disease (KD). In this pilot study, we evaluated the safety and efficacy of a new protocol consisting of sivelestat sodium hydrate (SSH) combined with additional intravenous immune globulin (IVIG) for KD patients who were resistant to initial IVIG therapy.

Methods: This study is a prospective non-randomized, open-label and single-arm study undertaken in a population of refractory KD patients at Chiba University Hospital from December 2006 to March 2016. Read More

J Chin Med Assoc 2019 Mar;82(3):172-174

Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan, ROC.

The relationship between infection and Kawasaki disease (KD) remains unclear. Infection has long been considered a key predisposing factor for KD. Bacterial and viral agents may be related to the onset of KD because of superantigen and cytokine production. Read More

Heart Vessels 2019 Mar 25. Epub 2019 Mar 25.

Department of Pediatrics, Kochi Medical School, Kochi University, Kohasu, Oko-cho, Nankoku, Kochi, 783-8505, Japan.

Myocardial ischemia changes the electrophysiological properties of the myocardium, but it is difficult to detect the abnormalities of depolarization and repolarization noninvasively in patients with coronary artery disease. Depolarization and repolarization abnormalities were retrospectively investigated in 61 patients (48 males and 13 females) with coronary artery lesions (CALs) caused by Kawasaki disease (KD) from 2007 to 2014 using magnetocardiography (MCG). CAL had been diagnosed by selective coronary angiography. Read More

Trop Doct 2019 Mar 21:49475519829604. Epub 2019 Mar 21.

3 Associate Professor, Ege University Faculty of Medicine, Department of Pediatrics, General Pediatrics Unit, Ege University, Bornova, Izmir, Turkey.

Kawasaki disease (KD), also known as mucocutaneous lymph node syndrome and infantile polyarteritis nodosa, is known to present in multiple ways. Although inflammatory changes in several systems have been reported in KD, there are few documented child patients presenting with parotitis. We report such a case in a five-year-old. Read More

J Clin Rheumatol 2019 Mar 20. Epub 2019 Mar 20.

From the Allergy Immunology Unit, Department of Pediatrics.

Pediatr Infect Dis J 2019 Apr;38(4):431-438

Department of Pediatrics, Sendai Medical Center, Sendai, Japan.

Background: Kawasaki disease (KD) is an acute, systemic vasculitis syndrome that occurs in children. The clinical symptoms and epidemiologic features of KD strongly suggest that KD is triggered by unidentified infectious agents in genetically predisposed patients. In addition, a number of studies have described the role of B cells in the development of KD. Read More

Cytokine 2019 Mar 13;119:52-56. Epub 2019 Mar 13.

Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

The present study aimed to assess the kinetics of cytokine release and compare the accuracy of serum biomarkers for the diagnosis of macrophage activation syndrome (MAS) associated with Kawasaki disease (KD). Serum neopterin, interleukin (IL)-18, IL-6 and soluble tumour necrosis factor receptor type I (sTNFR-I) and sTNFR-II levels were determined using enzyme-linked immunosorbent assay in 78 patients with KD, including five with MAS. Results were compared to the clinical features of MAS. Read More

Clin Chim Acta 2019 Mar 12;494:58-63. Epub 2019 Mar 12.

Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.

Background: Niemann-Pick disease type C (NPC) is an autosomal recessive inherited disorder with progressive neuronal degeneration. Because conventional diagnostic methods are complicated and invasive, biomarker tests have drawn attention. We aimed to evaluate three urinary conjugated cholesterol metabolites as diagnostic biomarkers for NPC. Read More

J Clin Rheumatol 2019 Mar 12. Epub 2019 Mar 12.

Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

J Immunol Res 2019 4;2019:3140204. Epub 2019 Feb 4.

Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical, and Health Sciences, Kanazawa University, Kanazawa, Japan.

To investigate whether serum leucine-rich 2-glycoprotein (LRG) levels are useful as a marker of disease activity in systemic juvenile idiopathic arthritis (s-JIA), we determined serum LRG levels in fifty-nine s-JIA patients, 15 with other subtypes of JIA, 7 with Kawasaki disease (KD), 7 with influenza A infection (flu), 7 with enterohemorrhagic (EHEC) infection, and 20 healthy controls (HC). Results were compared with the clinical features of s-JIA and serum cytokine levels including interleukin- (IL-) 6, IL-18, and soluble tumor necrosis factor receptors I and II. Serum LRG levels in active s-JIA were higher compared to those in other subtypes of JIA, EHEC, flu patients, and HC. Read More

Pediatr Int 2019 Mar 10;61(3):302-303. Epub 2019 Mar 10.

Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

J Hum Genet 2019 Mar 11. Epub 2019 Mar 11.

Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Chiba, Japan.

ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investigated 3812 patients with KD and 2644 healthy individuals for variations in the protein-coding region of ORAI1. Read More

Lancet 2019 Mar 7;393(10176):1077-1078. Epub 2019 Mar 7.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, The Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Lancet 2019 Mar 7;393(10176):1128-1137. Epub 2019 Mar 7.

Department of Public Health, Chiba University, Chiba, Japan. Electronic address:

Background: Genetic studies have indicated possible involvement of the upregulated calcium-nuclear factor of activated T cells pathway in the pathogenesis of Kawasaki disease. We aimed to assess safety and efficacy of ciclosporin, an immunosuppressant targeting this pathway, for protection of patients with Kawasaki disease against coronary artery abnormalities.

Methods: We did a randomised, open-label, blinded endpoints trial involving 22 hospitals in Japan between May 29, 2014, and Dec 27, 2016. Read More

Stroke 2019 Apr;50(4):1010-1012

Department of Neurology (K.M., M.S., H.M.), Osaka University Graduate School of Medicine, Japan.

Background and Purpose- The effect of enzyme replacement therapy (ERT) on cerebrovascular complications remains largely unexplored. We aimed to investigate the relationship between basilar artery (BA) diameter and long-term ERT in patients with Fabry disease. Methods- We obtained baseline magnetic resonance imaging data from 30 patients (40. Read More

Allergy 2019 Mar 6. Epub 2019 Mar 6.

Institute of Imaging and Biomedical Photonics, National Chiao Tung University, Tainan, Taiwan.

Contemp Clin Trials 2019 Apr 3;79:98-103. Epub 2019 Mar 3.

Harbor-UCLA Medical Center, 1124 W. Carson St., Torrance, CA, 90509, United States.

Background: Although intravenous immunoglobulin (IVIG) is effective therapy for Kawasaki disease (KD), the most common cause of acquired heart disease in children, 10-20% of patients are IVIG-resistant and require additional therapy. This group has an increased risk of coronary artery aneurysms (CAA) and there has been no adequately powered, randomized clinical trial in a multi-ethnic population to determine the optimal therapy for IVIG-resistant patients.

Objectives: The primary outcome is duration of fever in IVIG-resistant patients randomized to treatment with either infliximab or a second IVIG infusion. Read More

Int J Rheum Dis 2019 Mar 3. Epub 2019 Mar 3.

Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Background: Kawasaki disease (KD) is emerging as the most common medium vessel vasculitis in children. Recurrence of KD (0.8%-3. Read More

Pediatr Hematol Oncol 2019 Mar 1:1-16. Epub 2019 Mar 1.

a Department of Pediatrics , Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital , Ankara , Turkey.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of excessive immune activation. Secondary HLH syndrome develops as a complication of infection, drugs, rheumatologic conditions, or malignancy. The main objectives of this work were to identify the etiology of secondary HLH and prognostic factors associated with mortality. Read More

Zhonghua Er Ke Za Zhi 2019 Mar;57(3):224-226

Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

Jpn J Infect Dis 2019 Feb 28. Epub 2019 Feb 28.

Department of Virology and Parasitology, Fujita Health University School of Medicine.

The emergence of unusual DS-1-like intergenogroup reassortant rotaviruses having the bovine-like G8 genotype (DS-1-like G8P[8] strains) has been reported from several Asian countries. During the rotavirus surveillance program in Japan in 2017, a DS-1-like G8P[8] strain (RVA/Human-wt/JPN/SO1162/2017/G8P[8]) was identified in 43 rotavirus-positive stool samples. Strain SO1162 was shown to have a unique genotype constellation including both genogroup 1 and 2 genes: G8-P[8]-I2-R2-C2-M2-A2-N2-T2-E2-H2. Read More

BMC Pediatr 2019 Feb 26;19(1):66. Epub 2019 Feb 26.

Department of Pediatric Cardiology, Ludwig-Maximilians-University of Munich, Munich, Germany.

Background: In Kawasaki disease (KD), a vasculitis of unknown etiology, the most serious complication is the development of coronary artery aneurysm (CAA). To date, the exact pathomechanism of KD is unknown. Both environmental and genetic factors seem to be associated with the development of the disease. Read More

Front Pediatr 2019 5;7:18. Epub 2019 Feb 5.

Departments of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

Kawasaki disease (KD) is a multisystem vasculitis that primarily affects the coronary arteries of young children. The causes of KD remain a mystery. It is suspected that some sort of infectious agent is involved because KD has epidemicity and seasonality. Read More

J Clin Rheumatol 2019 Feb 19. Epub 2019 Feb 19.

From the Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

MedEdPORTAL 2018 Oct 26;14:10767. Epub 2018 Oct 26.

Assistant Professor, Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine at Texas Children's Hospital.

Introduction: Pediatric rheumatologic disease occurs more frequently than several other chronic pediatric diseases but is often underrecognized. It is estimated that in the US, one in 250 children has some form of juvenile arthritis and 300,000 children have a form of rheumatologic disease. However, there are only approximately 400 practicing pediatric rheumatologists nationwide. Read More

Yonsei Med J 2019 Mar;60(3):312-314

Department of Pediatrics, Saiseikai Shimonoseki General Hospital, Shimonoseki, Japan.

We report the first case demonstrating an association between Kawasaki disease (KD) and erythema nodosum (EN). A 3-year-old girl presented with EN as an initial manifestation of KD. At the initial visit, she showed high fever of 40°C, injection of the oropharynx, cervical lymphadenopathy, and red-purple cutaneous nodules, particularly on the lower limbs. Read More

BMC Infect Dis 2019 Feb 19;19(1):177. Epub 2019 Feb 19.

Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada.

Background: The emergence of norovirus genotype GII.4 variants has been associated with gastroenteritis pandemics worldwide, prompting molecular surveillance for early detection of novel strains. In this study, we aimed to analyze the outbreak activity of norovirus and characterize the norovirus strains circulating in Alberta between July 2012 and February 2018. Read More

Front Pediatr 2019 4;7. Epub 2019 Feb 4.

Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.

Kawasaki disease (KD) is anacute febrile coronary vasculitis disease in children. In general, this disease can be treated with a single dose of 2 g/kg intravenous immunoglobulin (IVIG). However, the best timing for administering steroid treatment in acute-stage KD is still under debate. Read More

Korean J Pediatr 2019 Apr 19;62(4):124-125. Epub 2019 Feb 19.

Department of Pediatrics, Institute of Health Science, Gyeongsang National University College of Medicine, Jinju, Korea.

Arch Med Sci Atheroscler Dis 2018 21;3:e41-e45. Epub 2018 Mar 21.

Department of Pediatrics, Robert Reid Cabral Children's Hospital affiliated to the University Iberoamericana UNIBE, School of Medicine, Santo Domingo, Dominican Republic.

Kawasaki disease is an acute systemic vasculitis that was first reported in 1961. Over the last 5 decades multiple papers have been published to further understand this disease. The diagnosis of Kawasaki disease is made based on the clinical findings. Read More

FEBS Open Bio 2019 Feb 20;9(2):265-275. Epub 2018 Dec 20.

Department of Cardiology Beijing Children's Hospital Capital Medical University Beijing China.

Kawasaki disease (KD) is an acute systemic vasculitis that mainly afflicts infants and young children. The symptoms of KD are similar to those of various febrile diseases. Here, we attempted to develop accurate diagnostic biomarkers of KD by performing urine proteomic analysis of samples from healthy controls, patients with KD, and patients with another febrile disease, pneumonia (two patients). Read More

Indian J Pediatr 2019 Feb 13. Epub 2019 Feb 13.

Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hospital, The CHILDS Trust Medical Research Foundation, 12-A, Nageswara Road, Nungambakkam, Chennai, Tamilnadu, 600034, India.

Korean J Pediatr 2019 Feb 8. Epub 2019 Feb 8.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Purpose: Coronary artery abnormalities (CAA) are the most important complication of Kawasaki disease (KD). Iron deficiency anemia (IDA) is prevalent micronutrient deficiencies and its association with KD remains unknown. We hypothesized the presence of IDA could be a predictor of CAA. Read More

Indian J Pediatr 2019 Mar 11;86(3):216-217. Epub 2019 Feb 11.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Indian J Pediatr 2019 Feb 11. Epub 2019 Feb 11.

Department of Family Medicine, National University Health System, Singapore, Singapore.

Mitochondrion 2019 Feb 7. Epub 2019 Feb 7.

Department of Clinical Laboratory, Tokyo Metropolitan Geriatric Hospital, Itabashi-ku, Japan.

Biomarkers and two clinical rating scales-the Japanese mitochondrial disease-rating scale (JMDRS) and Newcastle mitochondrial disease adult scale (NMDAS)-are clinically used when treating patients with mitochondrial disease. We explored the biomarker(s) and clinical rating scale(s) that are appropriate in preparing the protocol for a future clinical trial of sodium pyruvate (SP) therapy. A 48-week, prospective, single-centre, exploratory, clinical study enrolled 11 Japanese adult patients with genetically, biochemically, and clinically confirmed mitochondrial disease; they had intractable lactic acidosis and received SP (0. Read More