Keiji Goishi

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BACKGROUND Cytomegalovirus (CMV) is the most common cause of congenital virus infection. However, the risk factors for infection in utero and for progression to a severe clinical outcome remain uncertain. Recent studies have identified associations of specific single nucleotide polymorphisms (SNPs) in Toll-like receptor (TLR) genes with susceptibility to(More)
Complete urorectal septum malformation sequence (URSMS) is usually a lethal anomaly that is characterized by urethral obstruction, imperforate anus, ambiguous genitalia, renal agenesis or dysplasia, and mullerian duct maldevelopment. This anomaly is thought to be caused by the cessation of urorectal septum migration toward the caudal cloacal membrane.(More)
The potential risk factors for congenital cytomegalovirus (cCMV) infection or development of disease remain unclear. Here, we investigated the genetic polymorphisms in natural killer (NK) group 2, member D (NKG2D), an activating receptor expressed on NK cells, and in MHC class I-related chains A, the ligand of NKG2D, in 87 cCMV cases, and found that there(More)
Intrapericardial diaphragmatic hernia is a very rare phenotype of neonatal diaphragmatic hernia which is thought to be caused by the developmental failure of the septum transversum. There have been only 10 cases reported since 1980, and among them, only 2 cases were diagnosed in fetal life. We herein report a new case that was diagnosed in fetal life, and(More)
The authors report a case of laryngeal atresia (congenital high airway obstruction syndrome [CHAOS]) that was diagnosed prenatally. The patient underwent successfully tracheostomy by ex utero intrapartum treatment (EXIT). The fetal ultrasonography and magnetic resonance imaging MRI showed a typical CHAOS pattern with expanded hyperechogenic lungs, inverted(More)
The prevalence of umbilical cord cysts at 7–13 weeks’ gestation is approximately 3%. More than 20% of such cases are complicated by structural defects and/or chromosomal abnormalities such as trisomy 18. These cysts usually have a single cavity and are <5 cm in size. Therefore, when an umbilical cord cyst is detected in the 2nd trimester, the examination of(More)
Body stalk anomaly is characterized by severe scoliosis, severe pulmonary hypoplasia, and giant omphalocele. The prognosis of the disease is poor and most obstetricians consider it fatal. Very few patients with body stalk anomaly survive. We report the case of a baby diagnosed with body stalk anomaly in fetal life, who was saved by intensive care after(More)
OBJECTIVE To determine whether skin and subcutaneous blood flow measurements using a novel laser Doppler flow meter are useful for evaluating the cardiovascular status of very low birth weight (VLBW) infants during the early postnatal period. METHODS In eight VLBW infants and eight non-VLBW infants born at Tokyo University Hospital between May 2007 and(More)
AIM OF THE STUDY Few follow-up studies focused on the recurrence regarding the postoperative course of congenital diaphragmatic hernia (CDH) survivors. The aim of this study was to report on risk factor for CDH patients who had the recurrence during the follow-up. MATERIALS AND METHODS A multicenter retrospective survey was conducted on neonates diagnosed(More)
We report on clinical and molecular findings in five karyotypic males (cases 1-5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1-3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at(More)