Changes in maxillofacial morphology due to improvement of nasal obstruction in rats.

OBJECTIVES: To investigate the effect of release of experimentally introduced nasal obstruction on maxillofacial morphology and percutaneous arterial oxygen saturation (SpO2 ) in rats. MATERIALS AND METHODS: Six-week-old male Wistar rats (n = 36) were divided into a control group (n = 6) and a nasal obstruction group (n = 30). In the nasal obstruction group, the right nostril was occluded with silicon, which was subsequently removed after a given experimental period (days 7, 21, 35, 49 and 63). These animals were then divided into groups D7, D21, D35, D49 and D63 (each n = 6), according to the day at which the obstruction was released. The SpO2 was measured in rats with nasal obstruction at five experimental points. The maxillofacial morphology in rats on the first day and 63 days after the start of the experiment was evaluated by microcomputed tomography. RESULTS: The SpO2 was still lower at 2 weeks after the improvement of the nasal obstruction in the D49 group than in the control group. In addition, the height of the nasal maxillary complex of the D35, D49 and D63 groups was significantly decreased compared with the control group. CONCLUSIONS: The results of this study suggest that long-term unilateral nasal obstruction in growing rats may affect the growth of the nasomaxillary complex and reduce the SpO2 permanently. Therefore, early improvement of nasal obstruction in rats during the growth period may improve the SpO2 and cranial development and promote normal growth and development.

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

Febrile seizures (FSs) represent the most common form of childhood seizure. In the Japanese population, the incidence rate is as high as 7%. It has been recognized that there is a significant genetic component for susceptibility to this type of seizure. Two putative FS loci, FEB1 (chromosome 8q13-q21) and FEB2 (chromosome 19p), have been mapped. Furthermore, a mutation in the voltage-gated sodium (Na(+))-channel beta1 subunit gene ( SCN1B ) at chromosome 19q13.1 was identified in a family with a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS(+)). These loci are linked to some large families. In this study, we conducted a genome-wide linkage search for FS in one large family with subsequent linkage confirmation in 39 nuclear families. Significant linkage was found at D5S644 by multipoint non-parametric analysis using GENEHUNTER ( P = 5.4 x 10(-6)). Estimated lambda(s)at D5S644 was 2.5 according to maximum likelihood analysis. Significant linkage disequilibria with FS were observed at the markers D5S644, D5S652 and D5S2079 in 47 families by transmission disequilibrium tests. These findings indicate that there is a gene on chromosome 5q14-q15 that confers susceptibility to FSs and we call this gene FEB4.

Volumetric quantification of brain development using MRI.

We devised a three-dimensional method for estimation of cerebral development and myelination which measures cerebral volume using MRI. Accuracy of the system was estimated using cadaver brains. The mean percentage error in the calculated volumes compared with the real volumes was 2.33%, range 0.00-5.33%. We applied the method to the volume of both cerebral hemispheres (CH), basal ganglia, thalamus and internal capsule (BT), and myelinated white matter (WM) in 44 neurologically normal individuals (4 months to 28 years of age), 13 patients with spastic motor disturbances (2-25 years of age), and 9 patients with athetotic motor disturbances (2-23 years of age). In the neurologically normal cases, the volumes of CH, BT and WM increased with age; the volume of MW more slowly than that of CH. In cases with spastic motor disturbances, the volumes of CH, BT and WM were between -1.4 and 3.5 SD, -1.0 and -3.5 SD, and 0.0 and -5.2 SD respectively, of those of neurologically-normal cases. On the other hand, 7 of the 9 cases with athetotic motor disturbances were within 2 SD of the volume of CH in neurologically normal cases. Our method for direct measurement of cerebral volume based on serial MRI should be useful for the accurate assessment of brain development and quantitative analysis of delayed myelination.

[A case of childhood epilepsy with occipital paroxysms (CEOP) presenting particular EEG findings].

We reported a case of an eight-year-old boy with CEOP. His parents and sibling were in good health. There was no family history of epileptic and neurological disease. He had his first attack of unconsciousness with fixation of eye movement for a few minutes at the age of 7 years. After six months, he experienced attacks of vomiting followed by loss of consciousness and elementary visual hallucinations consisting of red and blue colors. Sometimes he complained of contraction of visual field for 10 to 20 seconds, as if a curtain had fallen following the visual hallucination of a bright light spot. At the age of eight years, he was admitted to our hospital for evaluation and therapy. Investigations included neurological examination, IQ, CT findings were normal. Visual evoked potential revealed more reduced amplitude in the left side than in the right. The EEG findings during the waking state showed continuous bilateral 1-2 c/s spike and wave complex discharges in occipital and posterior temporal areas. These discharges were immediately suppressed by eyes-opening in an illuminated room, but not in a dark room. However, during the light sleep stage, diffuse irregular spike and wave discharges appeared frequently with left side dominance. From the clinico-electrophysiological findings we diagnosed him as CEOP. In order to investigate the changes of the occipital spike and wave discharges by photic stimulation, we administered intermittent photic stimulation (IPS) for 10 seconds at each frequency between 1-30 flashes/sec (f/s) in a dark room.(ABSTRACT TRUNCATED AT 250 WORDS)

Familial occurrence of ring chromosome 15.

We present a family with the ring 15 chromosome (r(15)) syndrome in a 2-year-old infant and his mother. Both had the common clinical manifestations reported in previous cases with r(15), including severe short stature, microcephaly, triangular face, and mild mental retardation. The family also had a normal son. Although males with r(15) syndrome usually seem to be infertile, female r(15) patients are likely to be fertile and their reproductivity may be influenced by severe growth retardation.

[Clinicoencephalographic study of periodic lateralized epileptiform discharges in infants].

The mechanism of periodic lateralized epileptiform discharges (PLEDs) still remains unclear, although it has been the subject of a number of theories. We investigated the relationship between the level consciousness and PLEDs in order to clarify both the clinical significance and the mechanism of PLEDs. We studied two neonates and two infants with acute organic lesions of the brain (cerebral infarction, meningoencephalitis, cerebral hemorrhage, acute infantile hemiplegia), of whom all showing PLEDs in EEG. In each case, we analyzed sequential EEG records and the level of consciousness, and measured the periodicity, voltage and duration of PLEDs by a computer controlled digitizer. In each case, the periodicity and voltage of the discharges were related to the level of consciousness. The appearance rate of PLEDs was relatively high at the level of consciousness from III-100 to III-200. The inverse correlation between the frequency (1/periodicity) and the voltage of PLEDs was significant in 53% of the total records of PLEDs; it was also frequently observed at the level of consciousness between III-100 and III-200. From above findings we concluded that an appropriate degree of damage to produce PLEDs is required in both the cerebral cortex and subcortical white matter corresponding to the level of consciousness from III-100 to III-200.

Osteonecrosis of vertebrae in a child with acute lymphocytic leukaemia during L-asparaginase therapy.

We report a child with acute lymphocytic leukaemia who developed simultaneous osteonecrosis of vertebrae and cerebral thrombosis during L-asparaginase therapy. Fibrinogen, antithrombin III and plasminogen were decreased. Fresh frozen plasma in addition to antithrombin III concentrates were used to replenish these haemostatic proteins. L-asparaginase induced coagulopathy may cause osteonecrosis.

Survival rate in children with fulminant hepatitis improved by a combination of twice daily plasmapheresis and intensive conservative therapy.

Six of seven children with fulminant hepatitis (FH) were treated with a combination of twice daily plasmapheresis and intensive conservative therapy including special amino acid solution, glucagon-insulin therapy, dexamethasone, and so on. The remaining child was treated with intensive conservative therapy only because his condition was not so severe, in spite of being diagnosed as having fulminant hepatitis. Although five patients with biopsy-documented bridging hepatic necrosis or confluent hepatic necrosis in the acute phase made recoveries, the remaining two with massive hepatic necrosis died (the overall survival rate was 71%). The prognostic factors were considered to be the degree and pattern of liver cell necrosis, the degree of coma, and the etiology. The combination of twice daily plasmapheresis and intensive conservative therapy was effective for these pediatric patients with fulminant hepatitis, except those with massive hepatic necrosis.

[Cerebral thrombosis in a child with acute lymphocytic leukemia during L-asparaginase therapy].

A 13-year-old girl with preB-ALL was admitted because of headache during maintenance therapy including L-asparaginase. Magnetic resonance imaging revealed cerebral thrombosis. Coagulation studies showed decreased levels of fibrinogen, antithrombin-III and plasminogen. The patient was treated with antithrombin-III concentrates and fresh frozen plasma and recovered quickly. These findings suggest that coagulopathy induced by L-asparaginase is associated with the pathogenesis of cerebral thrombosis.