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Biomedical subjects

Toshiro Nagai

Publications and source records attributed to Toshiro Nagai.

At least 19 recordsLinked to original sources
PubMed2006

Hyperkalemia and hyperdopaminemia induced by an obsessive eating of banana in an anorexia nervosa adolescent.

Banana is known as a dopamine-rich and potassium-rich food, however no previous data regarding biochemical or psychological alteration induced by excess intake of banana has been reported. We have experienced an adolescent female case of Anorexia nervosa (AN) who denied eating anything but maximum 20 bananas and less than 500 ml mineral water per day for more than two years. During the period of massive banana eating habit, she showed increase of serum potassium (from 4.7 mEq/l to 6.1 mEq/l) and whole blood dopamine (from 11 ng/ml to 210 ng/ml; normal range 0.5-6.2 ng/ml), and obvious dysthymia that is inexplicable only by the pathology of AN. When the patient resumed other food ingestion after 26 months of obsessive and restricted eating of banana, the abnormalities in her blood data and her psychological state were all corrected toward normal. We conclude that in this case, the obsessive and restricted habit of banana ingestion resulted in hyperkalemia, hyperdopaminemia, and psychological change.

Adolescent↗
PubMed2006

Idiopathic hypereosinophilic syndrome complicated by central sinovenous thrombosis.

Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosinophilia for more than 6 months, he was asymptomatic until the sudden onset of vomiting and headache due to superior sagittal sinus thrombosis. Molecular analysis in peripheral blood did not reveal any mutation in the Fip1-like-platelet-derived growth factor receptor alpha chain (FIP1L1-PDGFRA) gene which was recently reported to be mutated in IHES. Since there must be symptoms or signs of organ involvement to fulfill the IHES criteria, we could not make a diagnosis of IHES until the onset of central nervous system involvement. We suggest that anti-coagulant therapy should be considered for asymptomatic patients with hypereosinophilia because hypereosinophilia may induce thrombosis in various organs.

Anticoagulants↗
PubMed2006

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5-10% of patients with the syndrome.

Activin Receptors, Type I↗
PubMed2006

[XX male].

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Androgen Antagonists↗
PubMed2006

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.

CONTEXT: Although the "backdoor" pathway to dihydrotestosterone has been postulated in the fetal-to-early-infantile period of patients with cytochrome P450 oxidoreductase deficiency (PORD), clinical data in support of this pathway remain limited. OBJECTIVE: The objective of this study was to obtain clinical evidence for the presence of the backdoor pathway in PORD. SETTING: This was a collaboration study between laboratories and hospitals. SUBJECTS: Twenty-two Japanese patients with molecularly confirmed PORD and 1763 control subjects participated in this study. INTERVENTION: Urine steroid profile analysis was performed by gas chromatography/mass spectrometry. In five patients and 776 control subjects, urine samples were obtained before 12 months of age. MAIN OUTCOME MEASURE: The main outcome measure was identification of a urine steroid(s) indicating the backdoor pathway. RESULTS: In the PORD patients, pregnanediol, pregnanetriolone, and pregnanetriol were obviously elevated, and the urine steroid ratios reflecting CYP17A1 and CYP21A2 activities were decreased throughout the examined ages. Furthermore, etiocholanolone and 11-hydroxyandrosterone, which should originate almost exclusively from androstenedione in the conventional "frontdoor" pathway, were grossly normal or somewhat decreased since early infancy, whereas androsterone, which can be derived not only from androstenedione and dihydrotestosterone in the conventional frontdoor pathway but also from 5alpha-pregnane-3alpha,17alpha-diol-20-one in the backdoor pathway, was increased during early infancy and remained grossly normal thereafter. Thus, the androsterone to etiocholanolone ratio was increased during early infancy and remained grossly normal thereafter. 5alpha-Pregnane-3alpha,17alpha-diol-20-one was elevated throughout the examined ages. CONCLUSIONS: The increased androsterone excretion during early infancy, as compared with the etiocholanolone and 11-hydroxyandrosterone excretions in the same period, suggests the presence of the backdoor pathway in PORD.

Adolescent↗
PubMed2006

Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia.

This report presents a case of steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. A 13-year-old male was diagnosed as having steroid sulfatase deficiency because steroid sulfatase activity was not detected in his leukocytes. In deoxyribonucleic acid studies, steroid sulfatase locus and adjacent loci were found to be deleted in his deoxyribonucleic acid. Cranial magnetic resonance imaging revealed periventricular nodular heterotopia, disclosing an irregular contour of the lateral walls of the lateral ventricles due to small nodular masses that were isointense as to the gray matter. In steroid sulfatase deficiency patients, bilateral periventricular nodular heterotopia must be considered.

Abnormalities, Multiple↗
PubMed2005

An adolescent with pharyngeal-cervical-brachial variant of Guillain-Barré syndrome after cytomegalovirus infection.

A 15-year-old Japanese girl developed bulbar palsy and upper limb-dominant muscle weakness 2 weeks after the onset of an upper respiratory tract infection due to cytomegalovirus (CMV). Her symptoms resembled that seen in the pharyngeal-cervical-brachial variant (PCB) of Guillain-Barré syndrome (GBS). Although bulbar palsy usually continues for several months in PCB, her bulbar palsy was very mild and improved rapidly before intravenous immunoglobulin therapy was instituted. Serum anti-GT1a IgG antibody titer was elevated at the acute phase of the disease and gradually decreased. The bulbar palsy-dominant GBS is thought to relate to anti-GT1a antibody and Campylobacter jejuni infection in adult patients. Our Case report suggests that CMV can also induce the production of anti-GT1a antibody, thereby resulting in PCB. When one sees acute onset bulbar palsy and limb muscle weakness, the possibility of PCB, even in children, should be considered, thus compelling the need for serum anti-ganglioside antibody measurement.

Adolescent↗
PubMed2005

Benign infantile neurogenic muscle atrophy predominantly involving the upper extremities.

An eight year-old girl was first noted to be hypotonic at 4 months of age. She had a delay in achieving developmental milestones and showed apparent weakness predominantly affecting muscles of the upper extremities. In the left biceps brachii muscle biopsy at the age of 5 months, there were groups of atrophic fibers and marked fiber type grouping, but intramuscular nerves were well myelinated and there were few type 2C fibers. She improved with age and learned to walk at 1 year and 4 months and had minimal weakness of the forearm muscles and mild atrophy of the muscles of the right upper extremity. She recently developed a mild scoliosis. Since the EMG was not neurogenic and no mutations were found in the survival motor neuron (SMN) gene, we believe that she does not have a degenerative neurogenic disorder but rather has an abnormal innervation of the skeletal muscles due either to anterior horn cell dysgenesis or anomalous peripheral nerve branching.

Child↗
PubMed2005

Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia.

Immune complex and complement systems play an important role in membranoproliferative glomerulonephritis (MPGN). X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by severe hypogammaglobulinemia. We report the case of an XLA patient who developed MPGN during an intravenous immunoglobulin (IVIG) treatment. In this patient, the serum IgG level was maintained at more than 400 mg/dl of regular IVIG administration (2.5 g/dose/month). The patient presented with microscopic hematuria, proteinuria (U-pro/Cr: 4.0-4.2) and low serum complement levels (C3: 57.8 mg/dl) 3 years after IVIG treatment and was diagnosed histopathologically as having MPGN type III. Both hematuria and proteinuria significantly improved, and the serum complement level returned to a normal level following methylprednisolone pulse therapy. To our knowledge, this is the first case report of MPGN associated with XLA. Although it is unclear how MPGN occurred in this XLA patient, we suggest that residual humoral immunity in the patient could be associated with the development of MPGN.

Agammaglobulinemia↗
PubMed2005

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II.

We report a mild form of lissencephaly or a pachygyric brain in a girl with microcephalic osteodysplastic primordial 'dwarfism' (MOPD) type II. She was born with severe intrauterine growth failure. A diagnosis of MOPD type II was warranted by persistent postnatal growth failure, microcephaly with a Seckel-like facial appearance, and distinctive radiological findings, including overtubulation of the long bones, metaphyseal cupping of the distal femora, and brachyphalangy with ivory epiphyses. Brain MRI showed thickened cerebral cortices with few and large gyri, most prominently in the frontal and posterior temporal regions. The Sylvian fissures developed incompletely, and the posterior horns of the lateral ventricle were dilated (colpocephaly). Despite the severe imaging findings, she showed only mild retardation of psychomotor development. To date, only minor brain malformations have attracted attention in MOPD type II. Our experience may suggest a wider spectrum of brain anomalies in this entity.

Abnormalities, Multiple↗
PubMed2005

Early onset distal muscular dystrophy with normal dysferlin expression.

A 7-year-old boy, who was noted to be a slow runner at the age of 2 years, had progressive muscle weakness and atrophy, preferentially affecting distal muscles. At 3 years of age, he had scoliosis and difficulty in standing on tip-toe. Serum creatine kinase was 1074IU/l. Muscle CT scan showed low-density areas in the lower legs and upper arms, but predominantly in the gastrocnemius and soleus muscles. Biopsy of the biceps brachii muscle showed moderate dystrophic changes with normal dysferlin expression on immunohistochemical and western blot analyses. Although muscle involvement mimicked that seen in Miyoshi myopathy (MM), the very early onset of the disease and scoliosis were quite unusual for MM. We, therefore, made the diagnosis of early onset dysferlin-positive distal muscular dystrophy, probably a new type of distal muscular dystrophy.

Age of Onset↗
PubMed2005

Diagnostic significance of membrane attack complex and vitronectin in childhood dermatomyositis.

In the current study, whether particular histologic distributions of membrane attack complex and vitronectin are correlated to clinical characteristics of patients with childhood dermatomyositis was investigated. The specimens from 11 patients with childhood dermatomyositis were examined immunocytochemically and compared with those taken from 6 adult dermatomyositis and 5 childhood polymyositis patients. Four out of five membrane attack complex-positive specimens were derived from patients who were within 1 to 3 months from the onset of childhood dermatomyositis and were not treated with prednisone. There were two patients at early stages of childhood dermatomyositis without pathologic characteristics of the disease. However, marked deposits of membrane attack complex on capillaries were seen in one of them. The immunoreactivity of vitronectin was detected at locations similar to those of membrane attack complex. Our results suggest that the detection of membrane attack complex and vitronectin in muscle capillaries will help us diagnose childhood dermatomyositis at an early stage.

Adolescent↗
PubMed2004

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

We report on molecular and clinical findings in 10 Japanese patients (four males and six females) from eight families (two pairs of siblings and six isolated cases) with Antley-Bixler syndrome accompanied by abnormal genitalia and/or impaired steroidogenesis. Direct sequencing was performed for all the 15 exons of cytochrome P450 oxidoreductase gene (POR), showing two missense mutations (R457H and Y578C), a 24-bp deletion mutation resulting in loss of nine amino acids and creation of one amino acid (L612_W620delinsR), a single bp insertion mutation leading to frameshift (I444fsX449), and a silent mutation (G5G). R457H has previously been shown to be a pathologic mutation, and computerized modeling analyses indicated that the 15A>G for G5G could disturb an exonic splicing enhancer motif, and the remaining three mutations should affect protein conformations. Six patients were compound heterozygotes, and three patients were R457H homozygotes; no mutation was identified on one allele of the remaining one patient. Clinical findings included various degrees of skeletal features, such as brachycephaly, radiohumeral synostosis, and digital joint contractures in patients of both sexes, normal-to-poor masculinization during fetal and pubertal periods in male patients, virilization during fetal life and poor pubertal development without worsening of virilization in female patients, and relatively large height gain and delayed bone age from the pubertal period in patients of both sexes, together with maternal virilization during pregnancy. Blood cholesterol was grossly normal, and endocrine studies revealed defective CYP17A1 and CYP21A2 activities. The results suggest that Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis is caused by POR mutations, and that clinical features are variable and primarily explained by impaired activities of POR-dependent CYP51A1, CYP17A1, CYP21A2, and CYP19A1.

Abnormalities, Multiple↗
PubMed2004

A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.

A de novo 3-bp deletion (179-181delGTG) was identified at exon 3 of the PTPN11 gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3-bp deletion is predicted to result in loss of the 60th glycine in the N-SH2 domain that is directly involved in the intramolecular interaction between the N-SH2 and the PTP domains of the PTPN11 protein, this mutation would disrupt the N-SH2/PTP binding in the absence of a phosphopeptide, leading to an excessive phosphatase activity. The results expand the spectrum of PTPN11 mutations in Noonan syndrome (NS), and suggest that a PTPN11 mutation leads to a wide range of clinical features of Noonan syndrome.

Base Sequence↗