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Biomedical subjects

M Y Momoi

Publications and source records attributed to M Y Momoi.

At least 37 records · Page 2Linked to original sources
PubMed1999

Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.

Prenatal screening of oculo-cerebro-renal syndrome of Lowe (OCRL; McKusick 309000) was performed using cultured amniocytes. Following identification of defective mRNA expression in the OCRL; gene of the proband's fibroblasts, the mRNA size and quantity of the cultured amniocytes were compared. Based on this analysis, the fetus was diagnosed as being normal and was subsequently delivered as a healthy boy. This is the first reported successful prenatal screening of OCRL using a comparison with defective mRNA of OCRL1 from affected subjects.

Adolescent↗
PubMed1999

Acute relapsing encephalopathy mimicking acute necrotizing encephalopathy in a 4-year-old boy.

A 4-year-old boy showed two episodes of encephalitis/encephalopathy involving disturbed consciousness, convulsion, and paresis associated with the elevated levels of protein and myelin basic protein of the cerebrospinal fluid. MRI studies of the brain revealed symmetrical lesions in the brain stem and thalami at the first episode, and additional lesions were found in the cerebellum involving both the gray and white matter in the second episode. The intensities of MRI lesions were low in T I and high in T2. These episodes were followed by an elevation of the anti-viral antibody titers, for influenza A virus during the first episode and for adenovirus during the second. In the second episode, intravenous methylprednisolone therapy resulted in rapid improvement of his neurological signs.

Brain↗
PubMed1999

Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation.

We examined heteroplasmy of mutated mitochondrial DNA in single peripheral lymphocytes derived from 4 individuals carrying the nt 3243 A-to-G mutation, including two patients with MELAS, a patient with cardiomyopathy, deafness and diabetes mellitus, and the asymptomatic mother of one of the MELAS patients. In these subjects, all lymphocytes examined were heteroplasmic to different degrees, with a wider range of heteroplasmy evident in the symptomatic patients than in the healthy carrier.

Abnormalities, Multiple↗
PubMed1999

bFGF inhibits the activation of caspase-3 and apoptosis of P19 embryonal carcinoma cells during neuronal differentiation.

P19 embryonal carcinoma (EC) cells undergo apoptosis during neuronal differentiation induced by all-trans retinoic acid (RA). Caspase-3-like proteases are activated and involved in the apoptosis of P19 EC cells during neuronal differentiation.1 Recently it has been shown that growth factor signals protect against apoptosis by phosphorylation of Bad. Phosphorylated Bad, an apoptotic member of the Bcl-2 family, cannot bind to Bcl-xL and results in Bcl-xL homodimer formation and subsequent antiapoptotic activity. In the present study, we demonstrate that this system is used generally to protect against apoptosis during neuronal differentiation. Bcl-xL inhibited the activation of caspase-3-like proteases. Basic fibroblast growth factor (bFGF) inhibited more than 90% of the caspase-3-like activity, inhibited processing of caspase-3 into its active form, and inhibited DNA fragmentation. bFGF activated phosphatidyl-inositol-3-kinase (PI3K) and stimulated the phosphorylation of Bad. Phosphorylation was inhibited by wortmannin, an inhibitor of PI3K and its downstream target Akt. Thus, Bad is a target of the FGF receptor-mediated signals involved in the protection against activation of caspase-3.

Animals↗
PubMed1999

High serum levels of M-CSF and G-CSF in Kawasaki disease.

To examine any role of macrophage colony-stimulating factor (M-CSF), in the immune responses in Kawasaki disease (KD), we serially assayed M-CSF and several related cytokines using ELISA. In 10 paediatric patients with KD the level of M-CSF was significantly higher in the acute phase than in the convalescent phase (1476.1 +/- 443.6 v 805.0 +/- 184.7 U/ml). Higher levels of serum granulocyte colony-stimulating factor (G-CSF) and interleukin-6 were also found in the acute phase. These results suggest that M-CSF, G-CSF and interleukin-6, derived from monocytes as monokines or derived from vascular endothelial cells, might play an important role in the acute phase of KD.

Child↗
PubMed1999

Hemodynamic effect of rapid atrial pacing in fetal lambs.

To determine the threshold at which rapid atrial pacing brings on fetal circulatory failure, we made a fetal supraventricular tachyarrhythmia model and measured the central venous pressure, aortic pressure, and right and left ventricular outputs in five fetal lambs. Under maternal anesthesia, the uterus was opened, and under local anesthesia, polyvinyl catheters were inserted into the fetal superior vena cava and ascending aorta through a neck incision. Pacing leads (Medtronic model 6492) were then sutured onto the fetal right atrial appendage via right thoracotomy. Ventricular output was estimated using a Toshiba SSH-65A echocardiography by a transuterine approach. Fetal hemodynamics were observed without pacing (control), and at the atrial pacing rates of 200, 300, 350, and 400/min. Central venous pressure (CVP) increased and the aortic pressure decreased when the right atrium was paced at 350/min or more. Right ventricular output decreased when the right atrium was paced at 300/min or more. The left ventricular output, however, remained constant. The right ventricular output was 382 +/- 106 mL/kg/min at control, and 391 +/- 117 mL/kg/min when paced at 200/min, but decreased to 210 +/- 138 mL/kg/min when paced at 300/min, to 223 +/- 102 mL/kg/min when paced at 350/min, and to 186 +/- 86 mL/kg/min when paced at 400/min. Fetal circulatory failure occurred when the right atrium was paced at 300/min or more.

Animals↗
PubMed1999

[A case of ophthalmoplegic migraine: swelling and Gd-DTPA enhancement of the oculomotor nerve on MRI].

We report here a 9-year-old girl with ophthalmoplegic migraine. At the age of 2 years and 6 months she first developed left ptosis and ophthalmoparesis that resolved gradually within 2 weeks. She experienced similar episodes repeatedly. After 5 years of age, left periorbital pulsatile pain preceded ptosis and ophthalmoparesis, and after 7 years, she showed permanent left third nerve paresis even between the attacks. On cranial MRI the left oculomotor nerve showed swelling and contrast enhancement, the latter being more prominent in the ictal than interictal images. Ophthalmoplegic migraine should be considered in the differential diagnosis of opthalmoplegia in children even in the absence of headache. The diagnosis is strongly suspected when MRI demonstrates swelling and enhancement of the oculomotor nerve.

Child↗
PubMed1999

[Hematologic improvement of Pearson's syndrome confirmed by mitochondrial DNA analysis].

We report on an 8-month-old girl with Pearson's syndrome who presented with transfusion-dependent pancytopenia, exocrine pancreatic dysfunction, and lactic acidosis. Bone marrow findings were consistent with sideroblastic anemia and marked vacuolization of myeloid and erythroid precursors. Southern blot analysis of mitochondrial DNA (mtDNA) revealed a 4.5 kb deletion in peripheral blood cells. Gradual hematologic improvement was observed thereafter, and the patient was relieved of the need for blood transfusions. We were able to confirm a decrease of the mtDNA deletion in lymphocytes as well as in lymphoblastoid cell lines cultured from peripheral lymphocytes as the patient made steady hematologic progress.

DNA, Mitochondrial↗
PubMed1998

Detection of activated caspase-3 (CPP32) in the vertebrate nervous system during development by a cleavage site-directed antiserum.

We previously demonstrated that Caspase-3 is highly expressed in dorsal root ganglia and trigeminal ganglia of mouse embryos [T. Mukasa, K. Urase, Y.M. Momoi, I. Kimura, T. Momoi, Specific expression of CPP32 in sensory neurons of mouse embryos and activation of CPP32 in the apoptosis induced by a withdrawal of NGF, Biochem. Biophys. Res. Commun., 231 (1997) 770-774.]. Since, however, Caspases are processed into active form during apoptosis, it is difficult to examine the involvement of activated Caspases in naturally occurring cell death during development by immunohistochemical staining or in situ hybridization method. We prepared a cleavage site-directed antiserum against Caspase-3 (anti-p20/17). This antiserum reacted with fragment (p20/17) of Caspase-3, but not proCaspase-3 (p32), proCaspase-7 (p34) and its cleaved fragment (p24). We examined the relationship between the activation of Caspase-3 and the appearance of the naturally occurring apoptotic cells in the nervous system during development. In the trigeminal ganglia and dorsal root ganglia, the expression of Caspase-3 mRNA was maximal before the appearance of p20/17-positive cells and apoptotic cells. In the mouse brain, many p20/17-positive cells and apoptotic cells were observed in the neuroepithelium in the early developmental stages, but very few p20/17-positive cells were detected in postmitotic neurons in the cerebral cortex although Caspase-3 mRNA was expressed highly. Caspase-3 is activated mainly during apoptosis of neuroepithelial cells in the early developmental stages but not of mature neurons at postnatal stages.

Animals↗
PubMed1998

Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor.

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed.

Abnormalities, Multiple↗
PubMed1998

Detection of activated Caspase-3 by a cleavage site-directed antiserum during naturally occurring DRG neurons apoptosis.

We prepared a cleavage site-directed antiserum against Caspase-3 (anti-p20/17), which reacts with the p20/17 fragment (p20/17) activated by cleavage but not proCaspase-3 (p32), and examined the relationship between the activation of Caspase-3 and apoptosis. We identified p20/17-positive cells where cell death occurs naturally: interdigits of the forelimbs, small intestine epithelium, thymus, trigeminal ganglia, and dorsal root ganglia of mouse embryos. Withdrawal of nerve growth factor induced the appearance of p20/17-positive cells with DNA fragmentation in the culture of dorsal root ganglia neurons, while DNA fragmentation was detected in both p20/17-positive and -negative neurons in dorsal root ganglia of mouse embryos. These results suggest that not only activation of Caspase-3 but also other molecular mechanism play a role in the naturally occurring dorsal root ganglia apoptosis. Cleavage site-directed antisera against Caspases will be useful for the analysis of the molecular mechanism of naturally occurring apoptosis during development.

Animals↗
PubMed1998

Clinical and electroencephalographic findings in juvenile type DRPLA.

We present five different types of dentatorubral-pallidoluysian atrophy in one Japanese family. Two siblings and their paternal uncle manifested the juvenile type dentatorubral-pallidoluysian atrophy, the siblings' father had the late-adult type, and another paternal uncle had the early-adult type. Gene analysis confirmed the diagnosis for the proband and her sibling. By following the clinical courses and electroencephalographic changes, we found that the types of epileptic seizures and the electroencephalograms of the juvenile dentatorubral-pallidoluysian atrophy patients changed as the illness progressed. The siblings exhibited different levels of clinical severity despite the similar deoxyribonucleic acid expansion detected in their lymphocytes.

Adolescent↗
PubMed1998

A DNA repair defect in a patient with ataxia, mental retardation, and short stature.

A 12-year-old girl developed ataxia that gradually progressed. At age 18 the patient presented with mental retardation, cachectic dwarfism, microcephalus, and a progeroid appearance but no photosensitive skin lesions or deafness. On analysis of fibroblasts, unscheduled DNA synthesis was reduced to 50% of normal, but colony-forming ability after ultraviolet irradiation was normal. The symptoms and phenotype of the patient were distinguished from those in Cockayne syndrome and xeroderma pigmentosum. This case is interesting because the defect in DNA repair after ultraviolet irradiation was detected in a patient with neurologic disturbances but without photosensitive skin lesions.

Abnormalities, Multiple↗
PubMed1998

Hypertrophic cardiomyopathy in congenital myotonic dystrophy.

Involvement of the cardiac conduction system is a common clinical feature in myotonic dystrophy, whereas the association of primary myocardial abnormalities has rarely been reported. A patient with a severe form of congenital myotonic dystrophy who developed fatal left ventricular hypertrophy at 3 months of age and died at 2 years of age is reported. Serial ultrasonographic studies revealed progressive left ventricular hypertrophy accompanied by outflow obstruction of the left ventricle. Southern analysis for the myotonin kinase gene revealed a 5.8 kb expansion of CTG repeats in addition to a fragment of normal length. The degree of expansion was much greater than those of other reported patients with congenital myotonic dystrophy. These findings suggest that left ventricular hypertrophy represents an extreme level of myocardial damage in myotonic dystrophy and that this damage may be related to the larger size of the CTG repeats.

Adult↗
PubMed1998

Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam.

A 16-year-old girl had fully manifested Coffin-Lowry syndrome and drop episodes. Her drop episodes were precipitated by sudden unexpected tactile or auditory stimuli associated with the electrostatic circumstances in her leg muscles immediately after the stimuli. Studies revealed that her drop episode symptom was an unusual type of startle response and that it may be associated with Coffin-Lowry syndrome.

Abnormalities, Multiple↗
PubMed1998

Panipenem-betamipron and decreases in serum valproic acid concentration.

Serum concentrations of valproic acid (VPA) were reduced to 0% to 40% of the original levels by concomitant use with panipenem-betamipron (PAM-BP) in three patients. The serum VPA level began to decrease 2 days after the administration of PAPM-BP, and it began to increase within 24 hours of the last dose. The rapid change in the serum VPA level suggests the existence of unique and as yet unknown mechanisms of interaction between VPA and PAPM-BP. Epileptic seizures developed in two of the three patients during PAPM-BP use, which signaled the dangers of PAPM-BP administration to patients concomitantly administered VPA. PAPM-BP should not be used in patients administered VPA.

Adult↗
PubMed1998

Effects of dichloroacetate in three patients with MELAS.

We present the clinical and laboratory effects of dichloroacetate (DCA) in three children with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who had not responded to other medications. Administration of DCA lowered the elevated levels of lactate and pyruvate in the serum and CSF. DCA ameliorated abdominal pain, headache, and strokelike episodes, and improved cognitive function and fatigability in the three patients during the study period. Some transient liver dysfunction, hypocalcemia, and peripheral neuropathy were observed. The use of DCA in MELAS merits further study.

Adolescent↗