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ABSTRACT: Intractable diarrhea is a major symptom of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome and associated with autoantibodies against enterocytes. Although autoimmune enteropathy (AIE)-related 75 kDa antigen (AIE-75) is a prominent autoantigen involved in the enteropathy associated with IPEX syndrome, some patients with this syndrome demonstrated autoantibody recognizing a 95 kDa protein rather than AIE-75 in the small intestine. We, herewith, identified villin, an actin-binding protein, as the 95 kDa antigen. Four of five sera from patients with IPEX syndrome reacted with a fusion protein of glutathione-S-transferase and full length villin (GST-villin), whereas only three of 98 control sera weakly reacted with GST-villin. Anti-AIE-75 antibody was detected in all five IPEX sera but not in normal or control disease sera. We conclude that both AIE-75 and villin appear to be brush border autoantigens in IPEX syndrome and could be used for the diagnosis of AIE in patients with presumptive IPEX syndrome.
Clinical Immunology 06/2011; 141(1):83-9. · 4.05 Impact Factor
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ABSTRACT: Pulmonary arterial hypertension (PAH) is a rare complication of glycogen storage disease (GSD), and several cases with a poor outcome have been reported. A 17-year-old boy, who was diagnosed with GSD at 1 year of age, complained of shortness of breath on exertion, and was diagnosed with PAH based on the echocardiographic findings. Beraprost sodium (BPS) was started, and his symptoms improved after 3 months of treatment. Eighteen months later, he experienced frequent episodes of syncope. Because increasing the dose of BPS was ineffective, he was admitted to hospital. The echocardiogram showed marked elevation of the right ventricular pressure and low cardiac output, and his symptoms deteriorated despite continuous infusion of olprinone hydrochloride. Because a single dose of sildenafil increased his cardiac output, treatment with 25 mg sildenafil twice daily was started. His symptoms gradually ameliorated, and 3 weeks later he left the hospital. Two months after starting sildenafil, the cardiac index and the serous B-type natriuretic peptide concentration had become normal. Sildenafil may be effective in patients with secondary PAH and in patients who have developed tolerance to BPS.
Circulation Journal 02/2009; 73(10):1965-8. · 3.77 Impact Factor
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Kenji Nakayama, Mitsuru Kubota,
Yoshinobu Katoh,
Yukiharu Sawada,
Akiko Saito,
Kazuhiko Nishimura,
Eiji Katsura,
Naoshi Ichihara,
Tomohiro Suzuki,
Hirokazu Kouguchi,
Masahide Tamura,
Hiroshi Honma,
Setsuo Kanzaki,
Hitoshi Itami,
Akihiko Ohtake,
Kunihiko Kobayashi,
Tadashi Ariga,
Kenji Fujieda,
Norikazu Shimizu,
Tsugutoshi Aoki
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ABSTRACT: Wilson's disease (WND) is an autosomal recessive disorder of copper (Cu) accumulation leading to liver and/or brain damage. Oral chelating agents and diet are effective in treating WND. However, once irreversible damage has occurred, the effect of treatment is diminished and the patient's quality of life is compromised. For these reasons an effective method for screening has been needed for early detection of presymptomatic patients. We conducted an early and presymptomatic detection of WND using a novel automated assay of ceruloplasmin (Cp) concentration in urine and selected the mandatory medical health care examination for 3-year-old children in Hokkaido Prefecture (the largest administrative division in Japan) as a sampling point. We measured urinary Cp concentrations in 11,362 children using an immunological latex agglutination assay kit developed by us. Among these children we identified a positive case with markedly reduced urinary Cp concentration. Detailed medical examination provided no clinical manifestations to support the diagnosis of WND, although serum Cp and Cu levels were remarkably low in this case. Therefore, we analyzed the WND gene in order to confirm the diagnosis. Sequence analysis revealed that the case was compound heterozygous for the WND gene mutations 2871del.C and D1296N. According to the Ferenci scoring system for WND diagnosis, the case was established as a WND patient at the presymptomatic stage. Consequently, the patient has maintained a good quality of life under medical treatment with polaprezinc administration to date. Our investigation suggests that the screening system for WND using the automated urinary assay at the mandatory medical health care examination for 3-year-old children is a noninvasive and efficient method for the early and presymptomatic diagnosis of WND.
Molecular Genetics and Metabolism 08/2008; 94(3):363-7. · 3.19 Impact Factor
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ABSTRACT: Needle liver biopsy is insufficient for measuring enzyme activity in liver tissue in child cases of intrahepatic cholestasis because the biopsy specimen obtained is too small. This study was undertaken to validate the feasibility of a new, relatively non-invasive laparoscopic liver biopsy technique combining the use of laparoscopic cup-shaped punch biopsy forceps (CPBF) and an argon beam coagulator (ABC) handpiece for the diagnosis and examination of liver enzyme activity in cases of intrahepatic cholestasis in children. The authors performed laparoscopic liver biopsy with the combined use of laparoscopic CPBF and an ABC handpiece in 10 children aged 4 months to 9 years old. Two 5-mm trocars were inserted in each patient after their abdomens had been filled with carbon dioxide gas at a pressure of 8 mmHg. Four to five specimens (each: 0.5 cm(3) in size) were taken at the anterior edge of the left lobe of the liver using laparoscopic CPBF. ABC was sprayed on to the cut liver surface to achieve hemostasis. The duration of the laparoscopic procedure ranged from 25 to 64 (44 +/- 12.8) min. The maximum intraoperative hemorrhage from the biopsied liver bed was 30 ml. The bleeding was easily controlled using ABC for about 1 min. There were no cases of postoperative bleeding, bile leakage from the cut surface, nor intraabdominal infection. There were also no death cases, and only one complication (hydrocele testis) was recorded. Examination by microscopy and assays of enzyme activities were performed using these biopsy specimens, which were sufficient for diagnosis in all patients. Laparoscopic liver biopsy combining the use of laparoscopic CPBF and an ABC handpiece can be performed safely, is less invasive, and provides sufficient samples for examination both by microscopy and enzyme activity assays.
Pediatric Surgery International 11/2007; 23(10):947-51. · 1.25 Impact Factor
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Hironori Nagasaka,
Tohru Yorifuji,
Kei Murayama, Mitsuru Kubota,
Keiji Kurokawa,
Tomoko Murakami,
Masaki Kanazawa,
Tomozumi Takatani,
Atsushi Ogawa,
Emi Ogawa,
Shigenori Yamamoto,
Masanori Adachi,
Kunihiko Kobayashi,
Masaki Takayanagi
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ABSTRACT: The aim of this study was to investigate the effects of arginine on nutrition, growth and urea cycle function in boys with late-onset ornithine transcarbamylase deficiency (OTCD). Seven Japanese boys with late-onset OTCD enrolled in this study resumed arginine treatment after the cessation of this therapy for a few years. Clinical presentations such as vomiting and unconsciousness, plasma amino acids and urinary orotate excretion were followed chronologically to evaluate urea cycle function and protein synthesis with and without this therapy. In addition to height and body weight, blood levels of proteins, lipids, growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein -3 (IGFBP-3) were monitored.
The frequency of hyperammonemic attacks and urinary orotate excretion decreased significantly following the resumption of arginine treatment. Despite showing no marked change in body weight, height increased gradually. Extremely low plasma arginine increased to normal levels, while plasma glutamine and alanine levels decreased considerably. Except for a slight increase in high-density lipoprotein cholesterol level, blood levels of markers for nutrition did not change. In contrast, low serum IGF-I and IGFBP-3 levels increased to age-matched control levels, and normal urinary GH secretion became greater than the level observed in the controls.
Arginine treatment is able to reduces attacks of hyperammonemia in boys with late-onset OTCD and to increase their growth.
European Journal of Pediatrics 10/2006; 165(9):618-24. · 1.88 Impact Factor
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Shigeo Kure,
Stanley H Korman,
Junko Kanno,
Ayumi Narisawa, Mitsuru Kubota,
Toshimitsu Takayanagi,
Masaki Takayanagi,
Takashi Saito,
Akira Matsui,
Fumiaki Kamada,
Yoko Aoki,
Toshihiro Ohura,
Yoichi Matsubara
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ABSTRACT: It is currently problematic to confirm the clinical diagnosis of glycine encephalopathy, requiring either invasive liver biopsy for enzymatic analysis of the glycine cleavage system or exhaustive mutation analysis. Because the glycine cleavage system breaks down glycine generating carbon dioxide, we suppose that the glycine cleavage system activity could be evaluated in vivo by measuring exhaled (13)CO(2) after administration of [1-(13)C]glycine.
The [1-(13)C]glycine breath test was performed in 10 control subjects and 5 glycine encephalopathy patients with GLDC mutation, including 1 patient with mild glycine encephalopathy.
All the patients showed lower (13)CO(2) excretion than any control subject.
Not only typical GE but also atypical GE can be reliably diagnosed by the (13)C-glycine breath test. Because it is rapid, non-invasive, and requires little expertise, the breath test could be useful as a standard test for diagnosing GE.
Annals of Neurology 06/2006; 59(5):862-7. · 11.09 Impact Factor
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Shigeo Kure MD,
FRACP Stanley H. Korman MBBS,
Junko Kanno MD,
Ayumi Narisawa MD,
Mitsuru Kubota MD,
Toshimitsu Takayanagi MD,
Masaki Takayanagi MD,
Takashi Saito MD,
Akira Matsui MD,
Fumiaki Kamada MD, [......],
Ayumi Narisawa, Mitsuru Kubota,
Toshimitsu Takayanagi,
Masaki Takayanagi,
Takashi Saito,
Akira Matsui,
Fumiaki Kamada,
Yoko Aoki,
Toshihiro Ohura,
Yoichi Matsubara
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ABSTRACT: Objective
It is currently problematic to confirm the clinical diagnosis of glycine encephalopathy, requiring either invasive liver biopsy for enzymatic analysis of the glycine cleavage system or exhaustive mutation analysis. Because the glycine cleavage system breaks down glycine generating carbon dioxide, we suppose that the glycine cleavage system activity could be evaluated in vivo by measuring exhaled 13CO2 after administration of [1-13C]glycine.Methods
The [1-13C]glycine breath test was performed in 10 control subjects and 5 glycine encephalopathy patients with GLDC mutation, including 1 patient with mild glycine encephalopathy.ResultsAll the patients showed lower 13CO2 excretion than any control subject.InterpretationNot only typical GE but also atypical GE can be reliably diagnosed by the 13C-glycine breath test. Because it is rapid, non-invasive, and requires little expertise, the breath test could be useful as a standard test for diagnosing GE. Ann Neurol 2006;59:862–867
Annals of Neurology 04/2006; 59(5):862 - 867. · 11.09 Impact Factor
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ABSTRACT: Postoperative portal and splenic vein thrombosis (PSVT) is a rare but potentially fatal complication after abdominal surgery. We present 2 infants with PSVT after splenectomy and total colectomy, respectively, and also provide a review of the literature. We conclude that clinicians should consider that PSVT might occur after splenectomy for a huge splenomegaly or after a total colectomy for ulcerative colitis.
Pediatric Surgery International 12/2005; 21(11):918-21. · 1.25 Impact Factor
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Kanako Kojima,
Shigeo Kure,
Fumiaki Kamada,
Kiyotaka Hao,
Akiko Ichinohe,
Kenichi Sato,
Yoko Aoki,
Suzuki Yoichi, Mitsuru Kubota,
Reiko Horikawa,
Akiko Utsumi,
Masayoshi Miura,
Shinji Ogawa,
Masaki Kanazawa,
Yoichi Kohno,
Mikako Inokuchi,
Tomonobu Hasegawa,
Kuniaki Narisawa,
Yoichi Matsubara
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ABSTRACT: We devised a simple method using a TaqMan fluorogenic probe for detection of a prevalent G6PT1 mutation W118R among Japanese patients with glycogen storage disease type Ib. The W118R mutation was detected in three of six newly diagnosed Japanese patients. The W118R-negative alleles were screened for causative mutations by sequencing analysis, revealing five novel mutations. The genetic tests using the simple TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder.
Molecular Genetics and Metabolism 05/2004; 81(4):343-6. · 3.19 Impact Factor
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ABSTRACT: The complication of Menkes disease (MD) and gastroesophageal reflux disease (GERD) is extremely rare. This report describes the very rare case of a one-year-old boy with MD complicated with GERD, and the successful surgical treatment of GERD. We review the literature on this relationship between MD and GERD, and discuss the clinical features of this association. Furthermore, the possible cause of the onset of GERD complicated with MD is explored in this report.
The Turkish journal of pediatrics 52(3):333-5. · 0.44 Impact Factor
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ABSTRACT: X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two patients with CGS involving CYBB by array comparative genomic hybridization and the following PCR and DNA walking studies. The deletion size was 3.5 Mb in Patient 1 and 0.8 Mb in Patient 2. There were no homologous architectural features between the telomeric and centromeric breakpoint junctions in the deletions of either patient. However, the telomeric breakpoint of Patient 2 was embedded in a stretch of low-copy repeats and the centromeric breakpoint was also embedded in a stretch of short segments with significant sequence homology. These findings suggest the potential involvement of genome architecture in stimulating genomic rearrangements in Patient 2.
European journal of medical genetics 53(6):383-8. · 1.57 Impact Factor
