Publications by authors named "Yoshiya Hisaeda"

4 Publications

  • Page 1 of 1

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Asahikawa-Kosei General Hospital, Hokkaido, Japan.

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.
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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Prostaglandin E-major urinary metabolite as a noninvasive surrogate marker for infantile necrotizing enterocolitis.

J Pediatr Surg 2019 Aug 13;54(8):1584-1589. Epub 2018 Sep 13.

Department of Pediatric Surgery, Japanese Red Cross Medical Center, Tokyo, Japan. Electronic address:

Background: Early definitive diagnosis of necrotizing enterocolitis (NEC) based on Bell's staging criteria is difficult because there are few observable changes on abdominal imaging and blood chemistry tests at the onset of the disease.

Purpose: To investigate whether prostaglandin E-2 major urinary metabolite (PGE-MUM) can be a useful surrogate marker reflecting the disease state and severity of NEC in infants.

Methods: Infants were enrolled in this study between January 2014 and December 2016. NEC diagnosis was based on Bell's staging criteria > Stage II or necrotic bowel observed at surgery. After diagnosis, PGE-MUM level was measured and compared with that of the other disease and healthy infant groups.

Results: Median PGE-MUM value was highest in the NEC group (576 [65-3672] μg/g•Cre/BSA × 1000), followed by the other disease group (94 [57-296] μg/g•Cre/BSA × 1000) and the healthy infant group (19 [10-44] μg/g•Cre/BSA × 1000) (sensitivity: 92.3%, specificity: 81.5%, accuracy: 85.0%; p < 0.01). PGE-MUM level correlated with improved status of NEC, length of necrotic intestine, and Bell's staging criteria.

Conclusions: PGE-MUM level may be a useful surrogate biomarker reflecting the disease state of NEC. The method of urine sample collection is also advantageous, being noninvasive for infants. This is the first study reporting PGE-MUM level in NEC.

Type Of Study: Study of diagnostic test.

Level Of Evidence: LEVEL II.
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http://dx.doi.org/10.1016/j.jpedsurg.2018.08.044DOI Listing
August 2019

Examination of the percentage of immature platelet fraction in term and preterm infants at birth.

J Clin Neonatol 2013 Oct;2(4):173-8

Department of Neonatology, Japanese Red Cross Medical Center, Shibuya-Ku, Tokyo, Japan.

Background: Reticulated platelets (RPs) are newly synthesized platelets. Recently, an automatic method was established to detect RPs as a percentage of the immature platelet fraction (IPF%). Although, neonates often develop thrombocytopenia at some time during their hospitalization, the details of IPF% in neonates remain unclear. We, therefore, studied the relations between IPF% and other factors to gain a more detailed understanding of IPF% in neonates.

Methods: The following clinical data were obtained from the medical records of 105 neonates who met our inclusion criteria: Gestational age, birth weight, IPF% and platelet count of neonatal peripheral blood at birth, and perinatal data. The subjects were divided into three groups: Group A, birth weight standard deviation score (SDS) ≥ -2 standard deviation (SD) and ≤ +2 SD; Group S, < -2 SD; and Group L, > +2 SD.

Results: IPF% correlated negatively with platelet count at birth in the whole study population. IPF% was 2.8 ± 1.3% in term neonates, and IPF correlated negatively with gestational age and birth weight. Platelet count correlated positively with birth weight SDS in the whole study population and in Group S. IPF% correlated negatively with birth weight SDS in the whole study population and in Group S. In neonates with a platelet count below 25 × 10(4)/μl, IPF% correlated negatively with platelet count. Among other neonates, however, IPF% remained almost constant.

Conclusion: Monitoring of IPF% is useful for estimating the function of thrombocytopoiesis in neonates and preterm infants.
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http://dx.doi.org/10.4103/2249-4847.123095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883212PMC
October 2013

Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report.

AJP Rep 2013 Oct 14;3(2):119-22. Epub 2013 Aug 14.

Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan.

Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.
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http://dx.doi.org/10.1055/s-0033-1353388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799714PMC
October 2013