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The present findings indicate that physicians should consider FCMD with viral infection a differential diagnosis if the patient presents with acute rhabdomyolysis following a fever. Cys70Tyr , p. Here, we report five cases with IGF2 mutations and review IGF2 mutation-positive patients described in the literature. A stock caecal slurry CS solution was prepared from adult caeca. Five patients underwent high-dose chemotherapy followed by ASCT with the conditioning regimen consisted of intravenous busulfan BU and MEL. Patient 2 also had hypogonadism. We assessed the genetic backgrounds of Japanese patients with severe proteinuria. We sequenced PAX2 in patients with congenital anomalies of the kidney and urinary tract or with renal dysfunction of unknown cause and identified 19 different pathogenic variants in 38 patients from 30 families 6. We herein report a Japanese boy with end-stage renal disease due to medullary polycystic kidney disease and primary focal segmental glomerulosclerosis. High-dose chemotherapy followed by ASCT might be effective for poor responders in osteosarcoma. Twenty-three patients had ocular disabilities, mostly optic disc coloboma. All the mutations resided on the paternally inherited allele, and the mutation of case 5 was present in a mosaic condition. Rini Rossanti, Naoya Morisada, Kandai Nozu, Koichi Kamei, Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, Junya Fujimura, China Nagano, Nana Sakakibara, Takeshi Ninchoji, Hiroshi Kaito, Shuichi Ito, Ryojiro Tanaka, Kazumoto Iijima Pathogenic variants of paired box gene 2 PAX2 cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome RCS. In this paper, we report six PS patients: four with mild phenotypes and two with severe phenotypes. Satoshi Hibino, Naoya Morisada, Asami Takeda, Kazuki Tanaka, Kandai Nozu, Satoshi Yamakawa, Kazumoto Iijima, Naoya Fujita Mutations in the TTC21B gene have been identified in patients with nephronophthisis and were recently found in some patients with focal segmental glomerulosclerosis. Blood glucose levels were measured at 1.{/INSERTKEYS}{/PARAGRAPH} These results highlight SCLT1 as an additional candidate for BBS phenotype in an autosomal recessive manner. However, we detected aberrant splicing caused by the creation of a novel splice site by this single-base substitution. Although several single-gene mutations have been associated with steroid-resistant NS, causative genes for steroid-sensitive NS SSNS have not been clarified. One of these mutants has low ability of intracellular trimer formation, and the others had the defect of low-level secretion. Lipid mediators LMs are involved in the regulation of inflammation. Results: Trimer formation and secretion patterns tended to be similar to the wild type in most of the mutations that did not show proteinuria at a young age. In addition, the report describes the clinical characteristics of patients with monogenic disease-causing mutations. We conducted molecular studies including protein expression and transcript analyses. The proportion of patients with gene defects was similar to that of other reports, but the disease-causing gene mutation frequency was considerably different. rhTM was protective against neonatal sepsis. RH of the interleukin-1 receptor accessory protein IL1RAP gene in two siblings with SSNS. In contrast, missense variants outside the laminin N-terminal LN domain in LAMB2 lead to milder phenotypes. Hyperglycemia induces oxidative stress and immunosuppression. Twenty-two causative genes have already been reported for this disorder. Cys45Ser affecting cysteine residues involved in the S-S bindings. Although no obvious genotype-phenotype correlation was observed, six of the seven patients who developed end-stage renal disease in childhood had truncating variants. Since IL1RAP is a critical subunit of the functional interleukin-1 receptor IL-1R , we investigated the effect of these variants on IL-1R subunit function. Thirty-four patients had renal hypodysplasia or chronic kidney disease of unknown cause, and three had focal segmental glomerulosclerosis. May , Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 26 5 , - , English, International magazine [Refereed] Detailed characteristics of acute encephalopathy with biphasic seizures and late reduced diffusion: year data of a single-center consecutive cohort. We identified two missense variants in SCLT1, c. In one severe case, we detected the single-nucleotide substitution of c. On the other hand, trimer secretion was significantly reduced in all the mutations that showed proteinuria and early onset of renal failure. None of the ten patients died of regimen related toxicities. {PARAGRAPH}{INSERTKEYS}Many clinical studies have elucidated the correlation between genotype and phenotype, but there is still much ambiguity and insufficiency. Brain magnetic resonance imaging incidentally showed the typical characteristics of FCMD, and FCMD was confirmed by genetic analysis, which revealed a 3-kb retrotransposon insertion in one allele of the fukutin gene and a deep intronic splicing variant in intron 5 in another allele. However, one mild case possessed a splicing site variant c. We conclude that PAX2-related disorder has a variable clinical presentation and can be diagnosed by next-generation sequencing even in the absence of typical RCS manifestations. CASE REPORT: We report the case of a day-old girl with no apparent symptoms of muscular dystrophy who developed severe acute rhabdomyolysis caused by viral infection, resulting in quadriplegia and respiratory failure therefore requiring mechanical ventilation. The outcomes of osteosarcoma with poor prognostic factors, such as poor responders, metastatic disease at diagnosis, and relapsed or refractory disease, are poor. His renal pathological findings and gene mutations have not been previously reported in patients with ciliopathy. We reviewed the clinical records of the patients diagnosed with osteosarcoma at our institute between and who received high-dose chemotherapy followed by autologous stem cell transplantation ASCT in our institute. To clarify the mechanism of how this chimerism took place, we carried out whole-genome genotyping using a SNP array and microsatellite analysis. A retrospective review of clinical data was conducted for these patients. Two unrelated patients had congenital cystic adenomatoid malformations in their lungs. Four patients underwent high-dose chemotherapy followed by ASCT with the conditioning regimen consisted of thiotepa and melphalan MEL. For children with severe renal dysfunction, mutations in the TTC21B gene cause both ciliopathy characterized by bilateral polycystic kidney disease and primary focal segmental glomerulosclerosis. Sou Niitsuma, Hiroki Kudo, Atsuo Kikuchi, Takaya Hayashi, Satoshi Kumakura, Shuhei Kobayashi, Yuko Okuyama, Naonori Kumagai, Tetsuya Niihori, Yoko Aoki, Takanori So, Ryo Funayama, Keiko Nakayama, Matsuyuki Shirota, Shuji Kondo, Shoji Kagami, Hiroyasu Tsukaguchi, Kazumoto Iijima, Shigeo Kure, Naoto Ishii Nephrotic syndrome NS is a renal disease characterized by severe proteinuria and hypoproteinemia. RESULTS: We recruited five cases with IGF2 mutations: case 1 with a splice site mutation c. Using targeted next-generation sequencing, 60 podocyte-related genes were screened in unrelated patients with proteinuria. Mariko Ashina, Kazumichi Fujioka, Kosuke Nishida, Saki Okubo, Toshihiko Ikuta, Masakazu Shinohara, Kazumoto Iijima Neonatal sepsis is characterised by dysregulated immune responses. AESD is rare outside Asia, and consecutive cohort studies are therefore scarce. Yohei Masunaga, Takanobu Inoue, Kaori Yamoto, Yasuko Fujisawa, Yasuhiro Sato, Yuki Kawashima-Sonoyama, Naoya Morisada, Kazumoto Iijima, Yasuhisa Ohata, Noriyuki Namba, Hiroshi Suzumura, Ryota Kuribayashi, Yu Yamaguchi, Hiroshi Yoshihashi, Maki Fukami, Hirotomo Saitsu, Masayo Kagami, Tsutomu Ogata OBJECTIVE: IGF2 is a paternally expressed growth-promoting gene. Although acute rhabdomyolysis following infection in patients with FCMD has occasionally been reported, no studies have investigated rhabdomyolysis following viral infection in FCMD patients during early infancy. Human recombinant thrombomodulin rhTM , an anticoagulant, has anti-inflammatory effects and might be useful for sepsis treatment. Patient 1 was a year-old girl, and patient 2 was a year-old man. The phenotypes of both the present patients were compatible with BBS. Naoya Morisada, Riku Hamada, Kenichiro Miura, Ming Juan Ye, Kandai Nozu, Motoshi Hattori, Kazumoto Iijima Bardet-Biedl syndrome BBS is a rare autosomal recessive ciliopathy characterized by retinitis pigmentosa RP , truncal obesity, cognitive impairment, hypogonadism in men, polydactyly, and renal abnormalities with severe renal dysfunction. We conducted comprehensive gene screening of patients who had either congenital nephrotic syndrome, infantile nephrotic syndrome, steroid-resistant nephrotic syndrome, or focal segmental glomerular sclerosis. China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Yuya Aoto, Shinya Ishiko, Nana Sakakibara, Yuko Shima, Koichi Nakanishi, Hiroaki Nagase, Kazumoto Iijima, Kandai Nozu Numerous disease-causing gene mutations have been identified in proteinuric diseases, such as nephrotic syndrome and glomerulosclerosis. These trimerization assessments provide additional phenotypic considerations and may help to distinguish between pathogenic and nonpathogenic mutations. One patient underwent tandem high-dose chemotherapy followed by ASCT with BU and MEL followed by carboplatin and etoposide. The results revealed that three of the four cases with milder phenotypes had missense variants located outside the LN domain and one of the two severe PS cases had a homozygous missense variant located in the LN domain; these variant positions could explain their phenotypes. None of the five patients with poor responders who underwent high-dose chemotherapy followed by ASCT as part of consolidation therapy died of disease after ASCT. However, we experienced cases not showing these typical genotype-phenotype correlations. Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnormalities, including developmental problems and hearing loss. Further post-sepsis studies are needed to determine clinical plausibility. These are novel mechanisms leading to an atypical genotype-phenotype correlation. Six of ten probands with PAX2 mutation identified by next-generation sequencing did not show typical RCS manifestations. Upon transcript analysis, this variant generated some differently sized transcripts, including completely normal transcript, which could have conferred the milder phenotype. Cys33Ser , and p. Eleven LMs HEPE, EPA, HDHA, DHA, PD1, PGD2, 15d-PGJ2, 12S-HHT, lipoxin B4, HETE, AA were significantly increased at 3 h, and five LMs 5-HEPE, HEPE, HEPE, HDHA, PD1 were significantly increased at 6 h post-sepsis induction. IT and c. In this study, we identified two unrelated Japanese patients with clinical diagnoses of BBS associated with compound heterozygous SCLT1 mutation. Both the patients showed severe renal dysfunction in childhood, RP, mild intellectual disability, short stature, and truncal obesity, without oral aberrations and polydactyly. The B-allele frequency of the SNP array showed a mixture of three and five allele combinations, which excluded mosaicism but not chimerism, and suggested the fusion of two embryos or a shared parental haplotype between the two parental cells. Hiroshi Yamaguchi, Masahiro Nishiyama, Shoichi Tokumoto, Yusuke Ishida, Kazumi Tomioka, Kazunori Aoki, Yusuke Seino, Daisaku Toyoshima, Hiroki Takeda, Hiroshi Kurosawa, Kandai Nozu, Azusa Maruyama, Ryojiro Tanaka, Kazumoto Iijima, Hiroaki Nagase OBJECTIVE: Acute encephalopathy with biphasic seizures and late reduced diffusion AESD is a syndrome characterized by biphasic seizures with impaired consciousness. Subsequent cDNA analysis revealed that c. METHODS: A stock cecal slurry CS solution was prepared from adult cecums and 3. Next-generation sequencing detected a new compound heterozygous missense mutation in the TTC21B gene. Shogo Minamikawa, Saori Miwa, Tetsuji Inagaki, Kei Nishiyama, Hiroshi Kaito, Takeshi Ninchoji, Tomohiko Yamamura, China Nagano, Nana Sakakibara, Shingo Ishimori, Shigeo Hara, Norishige Yoshikawa, Daishi Hirano, Ryoko Harada, Riku Hamada, Natsuki Matsunoshita, Michio Nagata, Yuko Shima, Koichi Nakanishi, Hiroaki Nagase, Hiroki Takeda, Naoya Morisada, Kazumoto Iijima, Kandai Nozu Null variants in LAMB2 cause Pierson syndrome PS , a severe congenital nephrotic syndrome with ocular and neurological defects. All microsatellite markers showed a single maternal allele. Cys71Arg , p. To induce sepsis, 1. METHODS: We reviewed the clinical database and medical charts of 43 consecutive pediatric patients 15 Apr. Increased EPA, DHA, 12S-HHT, lipoxin B4, and AA were significantly suppressed by rhTM pre-treatment. We identified novel mechanisms leading to atypical genotype-phenotype correlation in PS. The virus etiology was confirmed to be Coxsackie A4. This protective effect might be mediated via LM modulation. This report describes the results of comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Herein, we aimed to describe the detailed characteristics of AESD, including clinical course, electroencephalogram data, laboratory data, imaging findings, treatment, and outcomes. Ten patients of osteosarcoma with poor responder, refractory status, and metastatic disease at diagnosis received high-dose chemotherapy followed by ASCT. Non-renal and non-ophthalmological manifestations included developmental disorder, electrolyte abnormality, and gonadal abnormalities. We investigated the glucose kinetics and effect of insulin administration during stress-induced hyperglycemia in a neonatal sepsis mouse model.