Akiko Nakatomi

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STUDY DESIGN A retrospective study of radiographic and clinical findings of spondylocostal dysostosis. OBJECTIVE To determine the features of spondylocostal dysostosis diagnosed using consistent diagnostic criteria. SUMMARY OF BACKGROUND DATA To our knowledge, no clear definition of spondylocostal dysostosis exists, and little information is available(More)
Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral, and/or brain damage, highlighting a need for early diagnosis. This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III,(More)
A 5-day-old newborn baby presented with skin eruption, oral vesicles, and fever. His mother developed skin eruption at the same time, and his four-year-old sister was diagnosed with hand-foot-mouth disease 1 week before his delivery. Enterovirus 71 was isolated from cerebrospinal fluid that showed mild pleocytosis. This rare case of virology documented(More)
BACKGROUND The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes such as Adult-onset Citrullinemia Type II (CTLN2) and Neonatal Intrahepatic Cholestasis caused by(More)
We herein report a case of progressive familial intrahepatic cholestasis with partial internal biliary diversion (PIBD). Although by using PIBD an external stoma can be avoided, exposure of the ileocecal junction to bile reflux as well as the effects of the direct bile flow on the colonic mucosa require further investigation.
We report for the first time the single photon emission computed tomography (SPECT) findings of a patient with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Kawasaki disease, which showed hypoperfusion of the bilateral cingulate gyri, thalamus, basal ganglia, brainstem, and cortex of the frontal lobes.(More)
Phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) are caused by a deficiency in hepatic phenylalanine hydroxylase (PAH). The incidence of PKU in Nagasaki prefecture is higher than that in all parts of Japan (1/15 894 vs 1/120 000). To investigate the genetic background of patients with HPA in Nagasaki prefecture, mutation analysis was done in 14(More)
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage. Recently, heterozygous mutations in the ACAN gene, which encodes aggrecan, have been identified in patients with short stature and accelerated bone age. We(More)
An 18-month-old girl was referred to our hospital because of fever and pancytopenia. On admission, her bone marrow nuclear cell count was 45,000/microliter, being mostly blasts with cleaved nuclei. The leukemic cells were negative for peroxidase staining, expressed CD10, CD19, CD34 and sIg mu, and did not express sIg kappa and lambda, corresponding to a(More)
Silver–Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR)(More)