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Article ; Online: A favorable impression of vaccination leads to a better vaccination rate for the human papillomavirus vaccine: A Japanese questionnaire survey investigation.

Jwa, Sinchul / Yuyama, Yoshihiko / Yoshida, Hisako / Hamazaki, Takashi

Vaccine: X

2022 Volume 13, Page(s) 100254

Abstract: Background: The Japanese vaccination rate for infants and children is seemingly excellent, except for the human papillomavirus (HPV) vaccine. Regardless of its efficacy, the inoculation rate in Japan has dropped to approximately 1 % since 2013 because ... ...

Abstract	Background: The Japanese vaccination rate for infants and children is seemingly excellent, except for the human papillomavirus (HPV) vaccine. Regardless of its efficacy, the inoculation rate in Japan has dropped to approximately 1 % since 2013 because of negative information about vaccine side effects. We aimed to demonstrate the factors that lead to low vaccine acceptance rates (e.g., caregiver attitudes, popular misconceptions) to inform the relevant target demographic of a stronger intention to immunize and to facilitate recovery of HPV vaccine coverage. Methods: We conducted this study using data from two questionnaire surveys. Statistical analyses of factors affecting vaccine impressions and mediation effects of HPV vaccine impressions were performed. The difference in the knowledge about each vaccine was evaluated. Results: Of the respondents, 95.9 % reported their intent to vaccinate their infants, whereas 58.2-78.3 % felt that they sufficiently understood the aims, efficacy, and risks of vaccination and 66.6 % had a positive impression of vaccines. Overall, 21.3 % of parents responded that they planned to have their child vaccinated against HPV, and 25.8 % had a favorable impression of this vaccine. Among factors affecting vaccine impressions, we found that parents had anxiety about vaccines when they felt that their knowledge of vaccines was insufficient. Additionally, impressions of the HPV vaccine had a mediating effect on the association between the impressions of infant vaccines and parents' intent to provide the vaccine to their children. Conclusion: These findings show that as a society, we need to improve impressions and knowledge regarding vaccines, including but not exclusively the HPV vaccine. Moreover, although the recovery of HPV vaccine coverage is strongly desired for improving public health, simply improving impressions about the HPV vaccine or educating parents with substantive knowledge is insufficient. Instead, improving impressions and understanding of the vaccination itself is necessary.
Language	English
Publishing date	2022-12-23
Publishing country	England
Document type	Journal Article
ISSN	2590-1362
ISSN (online)	2590-1362
DOI	10.1016/j.jvacx.2022.100254
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Article: Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study.

Tomita, Kazuyoshi / Okamoto, Shungo / Seto, Toshiyuki / Hamazaki, Takashi

Molecular genetics and metabolism reports

2021 Volume 29, Page(s) 100816

Abstract: We investigated the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigated the associated factors. Clinical data were retrospectively collected from the medical records ... ...

Abstract	We investigated the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigated the associated factors. Clinical data were retrospectively collected from the medical records of 28 patients with MPS II who visited our hospital between October 2007 and August 2019. Activities of daily living were assessed over time using a 5-point scale (from stage 1, indicating independent, to stage 5, indicating total assistance + medical care); the relationships of the interval years from stage 2 (mild symptoms) to stage 4 (total assistance) with therapeutic intervention, anti-drug antibodies (ADA), urinary glycosaminoglycans (uGAG), and genotypes were analyzed. Eight are attenuated types, and 20 are severe types. Further, 20 underwent enzyme replacement therapy (ERT) alone, 5 underwent hematopoietic stem cell transplantation (HSCT) alone, and 3 underwent both therapy. The mean interval years (standard deviation) from stage 2 to 4 was 3.5 (0.7) and 7.3 (3.3) in patients who started undergoing ERT (
Language	English
Publishing date	2021-10-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2021.100816
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Article: Incidence of menstrual cycle abnormalities and polycystic ovary syndrome in female Japanese patients with type 1 diabetes mellitus. The role of androgens.

Nakamichi, Tatsuya / Kawamura, Tomoyuki / Nishigaki, Satsuki / Odagiri, Shino / Yuyama, Yoshihiko / Nishikawa-Nakamura, Naoko / Hotta, Yuko / Hamazaki, Takashi

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2024 Volume 33, Issue 2, Page(s) 59–65

Abstract: Type 1 diabetes mellitus (T1DM) adversely affects gonadal function. This study aimed to define the characteristics and factors associated with menstrual cycle abnormalities and polycystic ovary syndrome (PCOS) in Japanese patients with T1DM. Our study ... ...

Abstract	Type 1 diabetes mellitus (T1DM) adversely affects gonadal function. This study aimed to define the characteristics and factors associated with menstrual cycle abnormalities and polycystic ovary syndrome (PCOS) in Japanese patients with T1DM. Our study enrolled 157 patients, including 55 with oligomenorrhea (prolonged menstrual cycle) and 102 without oligomenorrhea. LH/FSH ratio (p = 0.04) and total testosterone levels (p = 0.03) were significantly higher in the oligomenorrhea group than in the non-oligomenorrhea group. No significant differences were found between the two groups regarding age at menarche, age at T1DM diagnosis, treatment, glycated hemoglobin, or total daily insulin dose. Of the 55 patients in the oligomenorrhea group, 27 were diagnosed with PCOS based on the Rotterdam criteria. We concluded that female patients with T1DM, as well as abnormal menstrual cycles and hyperandrogenism, may suffer from undiagnosed PCOS and should be referred to a gynecologist for full assessment, diagnosis, and treatment.
Language	English
Publishing date	2024-02-25
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2024-0011
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Article ; Online: Child Neurology: Pathologically Confirmed Thrombotic Microangiopathy Caused by Onasemnogene Abeparvovec Treatment for SMA.

Yazaki, Kotaro / Sakuma, Satoru / Hikita, Norikatsu / Fujimaru, Rika / Hamazaki, Takashi

Neurology

2022 Volume 98, Issue 19, Page(s) 808–813

Abstract: Onasemnogene abeparvovec is an adeno-associated virus vector-based gene therapy for spinal muscular atrophy (SMA). Although several cases of drug-induced thrombotic microangiopathy due to onasemnogene abeparvovec have been reported, none has been ... ...

Abstract	Onasemnogene abeparvovec is an adeno-associated virus vector-based gene therapy for spinal muscular atrophy (SMA). Although several cases of drug-induced thrombotic microangiopathy due to onasemnogene abeparvovec have been reported, none has been confirmed pathologically. Here, we present renal histopathologic findings of TMA due to onasemnogene abeparvovec. On day 5 after receiving onasemnogene abeparvovec, a 23-month-old girl with SMA type 1 developed thrombocytopenia, microangiopathic hemolytic anemia, liver dysfunction, acute kidney injury, and hypertension. She was diagnosed with TMA and received an increased dose of prednisolone, antihypertensives, diuretics, packed red blood cell and platelet transfusion, a single dose of eculizumab, 4 cycles of plasmapheresis, and intermittent and continuous hemodialysis. Her TMA resolved by day 30. On day 49, renal biopsy was performed. Light microscopy revealed proliferation of glomerular mesangial cells and matrix, with mesangiolysis, endothelial cell swelling, and partial double contours of the glomerular basement membrane. Electron microscopy showed endothelial injury, with edematous changes of the subendothelial spaces and neoformation of the basement membrane, without electron-dense depositions. These findings are compatible with the recovery phase of TMA. One year after drug administration, her motor function is improved. She can hold her posture against gravity and has neither dysphagia nor respiratory disturbance, but mild hypertension persists. Physicians should be vigilant regarding TMA as a severe side effect of onasemnogene abeparvovec treatment, especially when thrombocytopenia, hemolytic anemia, increased lactate dehydrogenase, or acute kidney injury is present.
MeSH term(s)	Acute Kidney Injury ; Anemia ; Female ; Humans ; Hypertension ; Infant ; Muscular Atrophy, Spinal/genetics ; Neurology ; Thrombotic Microangiopathies/chemically induced ; Thrombotic Microangiopathies/therapy
Language	English
Publishing date	2022-03-29
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000200676
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Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article: Changes in FeNO, d-ROMs, and BH

Yamamoto, Naho / Kasuga, Saki / Kabata, Daijiro / Ono, Myu / Ando, Sakura / Hashimoto, Taisuke / Fujikawa, Shiori / Fujitani, Hiroko / Shintani, Ayumi / Hamazaki, Takashi

Journal of asthma and allergy

2024 Volume 17, Page(s) 251–259

Abstract: Purpose: Pteridines are metabolites of tetrahydrobiopterin (BH: Patients and methods: This is a prospective, randomized open-label study. Children, aged 2 to 15 years, who were scheduled for growth hormone stimulation tests and were able to undergo a ...

Abstract	Purpose: Pteridines are metabolites of tetrahydrobiopterin (BH Patients and methods: This is a prospective, randomized open-label study. Children, aged 2 to 15 years, who were scheduled for growth hormone stimulation tests and were able to undergo a respiratory function test were recruited. They were randomly divided into two groups: arginine-administered and control groups. In the former, L-arginine hydrochloride was intravenously administered. After administration, the levels of diacron-reactive oxygen metabolites (d-ROMs), serum pteridines, serum amino acids, and fractional exhaled NO (FeNO) were measured. Results: We analyzed 15 children aged 4 to 14 years. In the arginine-administered group, there was an increase in the FeNO level and a decrease in the d-ROMs level, reaching a peak 30 min after administration, compared with the control group. In addition, there was a decrease in the serum biopterin level and an increase in the d-ROMs level, reaching peak 60 min after administration. Conclusion: The administration of L-arginine increased the NO level and decreased the d-ROMs level. Due to this, biopterin may be consumed and decreased, leading to an increase in the d-ROMs level. As a reduction in reactive oxygen species leads to the relief of inflammation, arginine and biopterin may be useful for inhibiting inflammation.
Language	English
Publishing date	2024-03-20
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2494877-9
ISSN	1178-6965
ISSN	1178-6965
DOI	10.2147/JAA.S445203
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Article: Treatment strategy for maturity-onset diabetes of the young 3 (MODY3): Experience with two sisters and their mother.

Yuyama, Yoshihiko / Kawamura, Tomoyuki / Hotta, Yuko / Nishikawa-Nakamura, Naoko / Hamazaki, Takashi

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2023 Volume 32, Issue 4, Page(s) 228–234

Abstract: Maturity onset diabetes of the young (MODY) is a relatively young-onset diabetes mellitus with an autosomal dominant inheritance. Among these phenotypes, MODY3, caused by mutations in HNF1A, is one of the most frequent. Although MODY3 is known to respond ...

Abstract	Maturity onset diabetes of the young (MODY) is a relatively young-onset diabetes mellitus with an autosomal dominant inheritance. Among these phenotypes, MODY3, caused by mutations in HNF1A, is one of the most frequent. Although MODY3 is known to respond markedly to sulfonylureas (SU), many cases require insulin therapy. However, there are no clear guidelines for factors to consider when introducing antidiabetic drugs and insulin. This report describes a familial case in which an older sister was diagnosed with diabetes and subsequently with MODY3, followed by the onset of diabetes in the younger sister and mother. The elder sister initially denied insulin treatment and exhibited a suboptimal response to SU but finally agreed to insulin use. The mother initially selected insulin therapy because of the challenges associated with adherence to strict dietary therapy. Conversely, the younger sister responded positively to SU and maintained effective glycemic control. The management of MODY3, even though they have the same single-gene mutation and similar residual insulin secretion at diagnosis, should be flexibly individualized for each family member to ensure long-term adherence and appropriate glycemic control.
Language	English
Publishing date	2023-08-12
Publishing country	Japan
Document type	Case Reports
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2022-0074
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Article ; Online: Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria.

Ishige, Mika / Ito, Tetsuya / Hamazaki, Takashi / Kuwahara, Mitsuhiro / Lee, Lawrence / Shintaku, Haruo

Molecular genetics and metabolism

2023 Volume 140, Issue 3, Page(s) 107697

Abstract: Phenylketonuria (PKU) is an inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, resulting in high blood phenylalanine (Phe) concentrations with potential for impaired neurocognition. Pegvaliase, a pegylated recombinant ... ...

Abstract	Phenylketonuria (PKU) is an inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, resulting in high blood phenylalanine (Phe) concentrations with potential for impaired neurocognition. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, is approved for use in adults with PKU and high blood Phe despite prior management. In the Phase 3 PRISM studies conducted in the United States, pegvaliase induction/titration/maintenance dosing led to clinically meaningful and statistically significant blood Phe reductions versus placebo, with a manageable safety profile. Here we report the primary endpoint, change in blood Phe levels from baseline to Week 52, and 2-year interim efficacy and safety results (to Week 144; data cut-off March 31, 2022) of an ongoing, open-label study in a Japanese PKU population (JapicCTI-194,642). Participants were 12 adults with PKU from Japan aged 18-70 years with blood Phe levels >600 μmol/L. In Part 1, participants received subcutaneous 2.5 mg pegvaliase once weekly for 4 weeks (induction), followed by titration up to 20 mg/day, then dose adjustment to a maximum 40 mg/day to achieve blood Phe efficacy (≤360 μmol/L); this maintenance dose was continued to Week 52. In Part 2, participants continued pegvaliase with dose adjustments up to a maximum 60 mg/day for up to 168 weeks. Among 11 participants evaluable for efficacy, mean (standard deviation) blood Phe concentration decreased from 1025.9 (172.7) μmol/L at baseline to 448.3 (458.8) μmol/L at Week 52 (mean 57.5% decrease). Up to Week 104, all 11 (100%) efficacy-evaluable participants achieved blood Phe levels ≤600 μmol/L, 9 (81.8%) achieved ≤360 μmol/L, and 8 (72.7%) achieved ≤120 μmol/L. All 12 participants reported ≥1 adverse event (AE), most commonly injection site erythema and injection site swelling (n = 10, 83.3% each). The pegvaliase exposure-adjusted AE rate was 23.5 per person-years overall, 41.2 per person-years during induction/titration, and 13.5 per person-years during maintenance. All participants developed pegvaliase-induced antibody responses. There were no AEs leading to discontinuation, no deaths, and no anaphylaxis events. Although interim, these results support the use of pegvaliase in Japanese adults with PKU with elevated blood Phe levels and are consistent with results from the Phase 3 PRISM studies.
MeSH term(s)	Adult ; Humans ; East Asian People ; Phenylalanine ; Phenylalanine Ammonia-Lyase/therapeutic use ; Phenylketonurias/drug therapy ; Recombinant Proteins/therapeutic use ; Adolescent ; Young Adult ; Middle Aged ; Aged
Chemical Substances	pegvaliase (N6UAH27EUV) ; Phenylalanine (47E5O17Y3R) ; Phenylalanine Ammonia-Lyase (EC 4.3.1.24) ; Recombinant Proteins
Language	English
Publishing date	2023-09-09
Publishing country	United States
Document type	Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107697
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Zs.A 617: Show issues

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Article ; Online: Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study.

Seo, Joo-Hyun / Kosuga, Motomichi / Hamazaki, Takashi / Shintaku, Haruo / Okuyama, Torayuki

Molecular genetics and metabolism

2023 Volume 140, Issue 4, Page(s) 107709

Abstract: Intravenous idursulfase is standard treatment for mucopolysaccharidosis II (MPS II) in Japan. In the interim analysis of this open-label, phase 1/2 study (Center for Clinical Trials, Japan Medical Association: JMA-IIA00350), intracerebroventricular (ICV) ...

Abstract	Intravenous idursulfase is standard treatment for mucopolysaccharidosis II (MPS II) in Japan. In the interim analysis of this open-label, phase 1/2 study (Center for Clinical Trials, Japan Medical Association: JMA-IIA00350), intracerebroventricular (ICV) idursulfase beta was well tolerated, suppressed cerebrospinal fluid (CSF) heparan sulfate (HS) levels, and stabilized developmental decline over 100 weeks in Japanese children with MPS II. Here, we report the final study results, representing 5 years of ICV idursulfase beta treatment. Six male patients with MPS II and developmental delay were enrolled starting in June 2016 and followed until March 2021. Patients received up to 30 mg ICV idursulfase beta every 4 weeks. Outcomes included CSF HS levels, developmental age (DA) (assessed by the Kyoto Scale of Psychological Development), and safety (adverse events). Monitoring by laboratory biochemistry tests, urinary uronic tests, immunogenicity tests, and head computed tomography or magnetic resonance imaging were also conducted regularly. Following ICV idursulfase beta administration, mean CSF HS concentrations decreased from 7.75 μg/mL at baseline to 2.15 μg/mL at final injection (72.3% reduction). Mean DA increased from 23.2 months at screening to 36.0 months at final observation. In five patients with null mutations, mean DA at the final observation was higher than or did not regress compared with that of historical controls receiving intravenous idursulfase only, and the change in DA was greater in patients who started administration aged ≤3 years than in those aged >3 years (+28.7 vs -6.5 months). The difference in DA change versus historical controls in individual patients was +39.5, +40.8, +17.8, +10.5, +7.6 and - 4.5 (mean + 18.6). Common ICV idursulfase beta-related adverse events were vomiting, pyrexia, gastroenteritis, and upper respiratory tract infection (most mild/moderate). These results suggest that long-term ICV idursulfase beta treatment improved neurological symptoms in Japanese children with neuronopathic MPS II.
MeSH term(s)	Child ; Humans ; Male ; Mucopolysaccharidosis II/pathology ; Japan ; Enzyme Replacement Therapy/methods ; Iduronate Sulfatase ; Administration, Intravenous ; Research
Chemical Substances	Iduronate Sulfatase (EC 3.1.6.13)
Language	English
Publishing date	2023-10-18
Publishing country	United States
Document type	Clinical Trial, Phase II ; Clinical Trial, Phase I ; Journal Article
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107709
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Zs.A 617: Show issues

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Article ; Online: Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report.

Kadono, Shin / Miyawaki, Dai / Goto, Ayako / Hirai, Kaoru / Sakamoto, Shoko / Hama, Hiroki / Nishiura, Sayaka / Hamazaki, Takashi / Inoue, Koki

Medicine

2023 Volume 102, Issue 8, Page(s) e33055

Abstract: Rationale: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like ... ...

Abstract	Rationale: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD. Patient concerns: The patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age. Diagnoses: We diagnosed her with ASD and ADHD based on her medical history and semistructured interviews. Interventions: We focused her ASD and ADHD traits and discussed strategies with her for better adaptive living. Outcomes: Our interventions resulted in her better social adjustment. Lessons: Physicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.
MeSH term(s)	Humans ; Female ; Child ; Adolescent ; Attention Deficit Disorder with Hyperactivity/epidemiology ; Ornithine Carbamoyltransferase Deficiency Disease ; Autism Spectrum Disorder/epidemiology ; Hyperammonemia ; Comorbidity
Language	English
Publishing date	2023-02-24
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80184-7
ISSN	1536-5964 ; 0025-7974
ISSN (online)	1536-5964
ISSN	0025-7974
DOI	10.1097/MD.0000000000033055
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Article: Metabolic Signature of MELAS/Leigh Overlap Syndrome in Patient-specific Induced Pluripotent Stem Cells Model.

Hattori, Taeka / Hamazaki, Takashi / Kudo, Satoshi / Shintaku, Haruo

Osaka city medical journal

2019 Volume 62, Issue 2, Page(s) 69–76

Abstract: Background: Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes/Leigh overlap syndrome (MELAS) is caused by defects in the mitochondrial respiratory chain. It is still largely unknown how these mitochondrial respiratory chain ... ...

Abstract	Background: Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes/Leigh overlap syndrome (MELAS) is caused by defects in the mitochondrial respiratory chain. It is still largely unknown how these mitochondrial respiratory chain defects affect cellular metabolisms and lead to variable clinical phenotypes. Here, we analyzed metabolic signatures in a cellular model of MELAS/ Leigh overlap syndrome using untargeted gas chromatography coupled to mass spectrometry (GC-MS). . Methods: We obtained fibroblasts from a MELAS/Leigh overlap syndrome patient carrying the heteroplasmic m.10191T>C mutation, and generated induced pluripotent stem cells (iPSCs) from these fibroblast. Isogenic iPSC clones carrying two different loads of the heteroplasmic mutation (ND3hig-iPSC, ND3"w- iPSC-) were subjected to metabolome analysis. Metabolite profiles, which were identified by GC-MS, were analyzed by principal component analysis (PCA). Results:* We were able to identify about 40 metabolites in control fibroblasts and iPSCs. Upon comparative metabolome analysis between fibroblasts and iPSCs, lactic acid and proline were distinct between the two groups. When we compared patient fibroblasts and control fibroblasts, no significant distinct metabolites were found. On the other hand, patient specific iPSC with high mutational load (ND3high_ iPSC) showed a distinct metabolite profile compared with ND3""-iPSC and control-iPSCs. Metabolites that contributed to this distinction were pyruvate, malic acid, palmitic acid, stearic acid, and lactic acid. This metabolomic signature was only seen in the undifferentiated state of iPSCs and was lost upon differentiation Conclusions: These findings suggest that patient specific iPSC technology is useful to elucidate unique pathogenic metabolic pathways ,6mitochondrial chain diseases.
MeSH term(s)	Electron Transport Complex I/genetics ; Gas Chromatography-Mass Spectrometry/methods ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Leigh Disease/genetics ; Leigh Disease/metabolism ; MELAS Syndrome/genetics ; MELAS Syndrome/metabolism ; Metabolic Networks and Pathways/genetics ; Metabolome/genetics ; Mitochondria/genetics ; Mitochondria/metabolism ; Patient-Specific Modeling
Chemical Substances	Electron Transport Complex I (EC 1.6.5.3) ; MT-ND3 protein, human (EC 7.1.1.2)
Language	English
Publishing date	2019-02-05
Publishing country	Japan
Document type	Journal Article
ZDB-ID	800211-3
ISSN	0030-6096
ISSN	0030-6096
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