Publications by authors named "Ohishi Akira"

Article Synopsis
  • Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous disorder linked to RAS gene mutations, affecting various organs including skin and the brain.
  • A case report details the autopsy of a Japanese boy with LNSS who faced serious complications like hydrocephalus and congenital heart issues, leading to his death at six months old.
  • Genetic testing revealed a KRAS G12D mutation in a skin sample but not in blood, indicating a postzygotic mutation, and autopsy findings uncovered new pathological issues such as intracranial lipomatous hamartoma.
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Background: Hypoglycemia is a significant problem for all neonates and requires minimally invasive and reliable monitoring. The primary objective of this study was to verify the safety and accuracy of the continuous glucose monitoring (CGM) of full-term neonates using Freestyle Libre, a flash glucose monitoring (FGM) device.

Methods: The study was conducted on 20 neonates.

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Background: Transcutaneous bilirubin (TcB) measurement is useful, but dissociation with total serum bilirubin (TSB) is a clinical problem in measurement. We verified the accuracy of the latest version of the JM-105 jaundice meter.

Methods: The TcB, TSB, and hematocrit (Hct) measurements obtained in the first 4 days of life in 2788 term neonates were analyzed.

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Article Synopsis
  • Dissemination of ESC-resistant Salmonella in egg production poses a public health risk, as these bacteria can acquire resistance genes through insertion sequences.
  • A study analyzed 224 Salmonella isolates across various breeding and processing facilities in Japan, uncovering that 17.9% were resistant to multiple antibiotics, but not to azithromycin and meropenem.
  • Genetic analysis revealed that certain resistant strains harbored IncA/C plasmids with resistance genes, facilitating the transfer of these genes within the breeding chain.
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To establish whether serum bilirubin levels vary in healthy term neonates according to seasonal variations and meteorological factors, we retrospectively studied 3344 healthy term neonates born between 2013 and 2018. Total serum bilirubin (TSB) levels were measured on the fourth day after birth. The monthly and seasonal variations in TSB levels and clinical and meteorological effects on TSB levels were assessed.

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Article Synopsis
  • The study aimed to analyze the link between being small for gestational age (SGA) and the occurrence of congenital heart disease (CHD) in infants, as well as how SGA affects outcomes in infants with CHD.
  • Researchers evaluated 5,664 newborns, categorizing them based on the presence of SGA and CHD, and monitored their health outcomes.
  • The results revealed that SGA significantly increased the likelihood of invasive interventions and mortality in infants with CHD, indicating that having both conditions greatly heightens health risks.
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Purpose: Cardiac insufficiency is a major morbidity in neonatal hyperthyroidism. It is important to assess the hemodynamics in neonates born to mothers with Graves' disease (GD). This study prospectively evaluated the hemodynamic changes in neonates born to mothers with GD.

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Interstitial microdeletions at chromosome 19p13.3 are frequently associated with a constellation of clinical features including macrocephaly, characteristic face, intellectual disability, and sleep apnea. Previous studies in 25 patients with 19p13.

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We measured the serial changes in N-terminal probrain natriuretic peptide (NT-proBNP) levels in a 6-month-old male infant with chronic lung disease (CLD) complicated by pulmonary arterial hypertension (PAH). The patient was born at the 24th week of gestation weighing 695 g. At 1 month after birth, an echocardiogram confirmed the diagnosis of CLD with PAH.

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Article Synopsis
  • Delayed diagnosis of critical congenital heart disease (CCHD) can lead to serious health risks for babies.
  • The study looked at newborns who received early heart checks using echocardiography to see if it helps find CCHD more effectively.
  • Out of over 3,400 newborns checked, only a small number had heart issues, and most of those didn’t have serious problems, showing early screening might not catch many serious cases.
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Background: Although persistent pulmonary hypertension of the newborn (PPHN) and infantile hypertrophic pyloric stenosis (HPS) are both well-known diseases that occur in early infancy, PPHN complicated by HPS is rare. As nitric oxide (NO) is an important mediator of biological functions, on both the vascular endothelium and smooth muscle cells, the decreased production of NO might play a role in the pathogenesis of both PPHN and HPS. We present the case of a neonate who developed HPS following PPHN, including a detailed review on research published to date, and we discuss the pathogenesis of PPHN and HPS.

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Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). FGFR2 and FGFR3 mutations were identified in 10 of the 11 patients.

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  • A study was conducted to evaluate the effectiveness of the CoaguChek XS, a portable coagulation analyzer, for assessing vitamin K deficiency in 1-month-old infants.
  • The research involved 578 healthy infants, establishing a reference interval (RI) for INR as 0.9-1.1, while the traditional Normotest (NT) showed a RI of 69%-130%.
  • Although the CoaguChek XS proved more convenient for testing, the study couldn't confirm its efficiency in screening for vitamin K deficiency due to the absence of abnormal NT values or bleeding disorders in the infants.
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  • The study investigates seasonal variations in blood coagulation markers, particularly the international normalized ratio (INR), in healthy term neonates, focusing on the influence of ambient temperature.
  • It involved 488 neonates measured over a year, revealing higher INR levels in July compared to January, indicating a summer peak.
  • The findings show that INR values correlate significantly with outdoor temperature and humidity, with outdoor temperature being the most impactful factor on INR variability.
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A technique for restoring solar images partially compensated with adaptive optics is developed. An additional wavefront sensor is installed in an adaptive optics system to acquire residual wavefront information simultaneously to a solar image. A point spread function is derived from the wavefront information and used to deconvolve the solar image.

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We report four patients with SRY-positive 46,XX testicular disorders of sex development (46,XX-TDSD) (cases 1-4). Case 1 exhibited underdeveloped external genitalia with hypospadias, case 2 manifested micropenis and cases 3 and 4 showed normal external genitalia. The Xp;Yp translocations occurred between the X- and the Y-differential regions in case 1, between PRKX and inverted PRKY in case 2 and between the X-chromosomal short arm pseudoautosomal region and the Y-differential regions in cases 3 and 4.

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Background: Neonates routinely receive vitamin K to prevent vitamin K deficiency bleeding, which is associated with a high mortality rate and a high frequency of neurological sequelae. A coagulation screening test might be necessary to detect prophylactic failure or incomplete prophylaxis. However, venous access and the volume of blood required for such testing can be problematic.

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We report on a Filipino neonate with early onset and prolonged hyperbilirubinemia who was delivered by a vacuum extraction due to a prolonged labor. Subsequent studies revealed adrenal hemorrhage and glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is likely that asphyxia and resultant hypoxia underlie the occurrence of adrenal hemorrhage and the clinical manifestation of G6PD deficiency and that the presence of the two events explains the early onset and prolonged hyperbilirubinemia of this neonate.

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Purpose: The goal of the present study is to carry out prospective echocardiographic measurements of intima-media thickness (IMT) in the abdominal artery of newborns.

Methods: Study subjects were 96 mothers and their newborns. We measured the adjusted IMT (aIMT, mm/mm) of newborn abdominal arteries by high-resolution ultrasound and evaluated the association of aIMT with various maternal and newborn factors.

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Aim: There are discrepancies in the reported prevalence of congenital heart disease (CHD). This study prospectively evaluated the prevalence of CHD in consecutive newborns using echocardiographic screening.

Methods: A cohort screening study was conducted in an unselected series of all live-birth newborns.

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Opitz G/BBB syndrome is a congenital disorder characterized by midline defects, such as hypertelorism, cleft lip and/or palate, hypospadias, and by dysphagia often caused by laryngo-tracheo-esophageal abnormalities. We experienced a case of polyhydramnios in a male dichorionic diamniotic (DD) twin, who was diagnosed with Opitz G/BBB syndrome after birth. It is suggested that severe dysphagia was causatively associated with the development of polyhydramnios.

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We report the one case of sepsis caused by Bifidobacterium breve administered as probiotic therapy. Probiotics can be a potential cause of an invasive disease and should be used with care in vulnerable patients.

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For patients with cytochrome P450 oxidoreductase deficiency (PORD), steroid replacement is recommended at times of stress. However, it is unknown how hormones respond to actual physical stress in these patients. We report a female infant with PORD accompanied by the Antley-Bixler syndrome phenotype.

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