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Your search keyword '"Takao Togawa"' showing total 2 results
Start Over Author "Takao Togawa" Journal journal of pediatric hematology/oncology
2 results on '"Takao Togawa"'

1. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome

Author

Shinji Saitoh, Masanori Kouwaki, Hitoshi Kanno, Hiromi Ogura, Takahiro Sugiura, Tomoko Suzuki, Toshiyuki Yamamoto, and Takao Togawa

Subjects
Male, Proband, Hemolytic anemia, Gilbert Syndrome, Anemia, Hemolytic, congenital, hereditary, and neonatal diseases and abnormalities, Hereditary elliptocytosis, 03 medical and health sciences, 0302 clinical medicine, Genotype, medicine, Humans, Genetics, business.industry, Elliptocytosis, Hereditary, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Spectrin, EPB41, Hematology, Jaundice, Prognosis, medicine.disease, Jaundice, Neonatal, Pedigree, Phenotype, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Pediatrics, Perinatology and Child Health, Female, Hereditary pyropoikilocytosis, Gilbert Disease, medicine.symptom, business, 030215 immunology
Abstract

Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the αLELY allele in SPTA1. In addition, the proband presented coexisting Gilbert syndrome as determined by homozygous mutation of UGT1A1. Investigation of 13 relatives and his sibling revealed that only his sibling showed the same phenotype and genotype as the proband. This is the first report of molecular confirmation of coexisting hereditary pyropoikilocytosis and Gilbert syndrome and a novel mutation in SPTA1.

Published
2020
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2. Risk factors for early death in transient myeloproliferative disorder without phenotypic features of Down syndrome: a case report and literature review

Author

Yu Hanada, Eiichi Azuma, Tsuyoshi Ito, Hironori Ohshita, Takao Togawa, Masanori Kouwaki, Norihisa Koyama, Tomoaki Sasaki, Tatsushi Tanaka, Koya Kawase, Mari Sugimoto, and Masahiro Hirayama

Subjects
Down syndrome, Pediatrics, medicine.medical_specialty, Review Literature as Topic, Early death, Gestational Age, Death, Sudden, Leukocyte Count, Risk Factors, Transient Myeloproliferative Disorder, White blood cell, medicine, Humans, Chromosome Aberrations, Myeloproliferative Disorders, business.industry, Infant, Newborn, Gestational age, Hematology, medicine.disease, Prognosis, Phenotype, stomatognathic diseases, medicine.anatomical_structure, Oncology, Pediatrics, Perinatology and Child Health, Female, Down Syndrome, business, Trisomy, human activities
Abstract

Not only in newborns with Down syndrome, but newborns without phenotypic features of Down syndrome also develop transient myeloproliferative disorder (TMD). In these cases, trisomy 21 and related chromosomal abnormalities are either constitutionally mosaic or limited to blood cells. Risk factors for early death of these patients are unknown so far. We here report a fatal case of TMD without phenotypic features of Down syndrome and review literature to identify risk factors associated with early death. Not only are gestational age and white blood cell count risk factors for early death in TMD with Down syndrome, but they also appear to be risk factors in TMD without Down syndrome.

Published
2012

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