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Objective: Mutations of the genes encoding subunits of potassium voltage-gated channel, KCNQ2 and KCNQ3 , have been identified in patients with benign familial neonatal seizures (BFNS). This study set out to determine the frequency of microchromosomal deletions of KCNQ2 or KCNQ3 associated with BFNS. Methods: The study subjects were patients with BFNS (n = 22). Microdeletions were sought by multiplex ligation-dependent probe amplification and then confirmed by fluorescence in situ hybridization and characterized by array-based comparative genomic hybridization. Results: Heterozygous multiple exonic deletions of KCNQ2 were identified in 4 of 22 patients with BFNS. Concomitant deletions of adjacent genes, including nicotinic cholinergic receptor α4 ( CHRNA4 ), were detected in 2 of the 4 cases. The clinical courses of patients with deletions of both KCNQ2 and CHRNA4 were those of typical BFNS, and none presented with the phenotype of autosomal dominant nocturnal frontal lobe epilepsy, some of which are caused by mutations of CHRNA4 . Conclusions: Our findings indicate that the clinical courses of patients with deletions of both KCNQ2 and CHRNA4 are indistinguishable from those of patients with deletions of KCNQ2 only.

Summary Background Increasing interest has arisen whether helminthic infections protect against asthma and allergy. The prevalence of wheezing among Bangladeshi children is higher in rural areas where helminthic infectious burden is greater, which is contrary to the general assumption. Objective We therefore examined the association between Ascaris infection, serum level of anti-Ascaris IgE, which should be investigated differently from the infection, and wheezing in 5-year-old children from rural Bangladesh. Methods A total of 219 children who reported wheezing during the previous 12 months and 122 randomly selected age-matched individuals who had never experienced wheezing were tested for serum levels of total and specific Ascaris, Dermatophagoides pteronyssinus, alternaria and cockroach IgEs, and for intestinal helminth infection as well. Results Anti-Ascaris IgE levels were significantly and independently associated with current wheezing during the previous 12 months [odds ratio (OR) per loge increment is 1.31 (95% confidence interval (CI) 1.08–1.60), P=0.007], a history of at least four episodes of wheezing [OR per loge increment is 1.52 (95% CI 1.18–1.96), P=0.001], wheezing with sleep disturbances [OR per loge increment is 1.35 (95% CI 1.10–1.64), P=0.011] and wheezing with speech disturbances [OR per loge increment is 1.57 (95% CI 1.19–2.08), P=0.001]. These were adjusted for gender, pneumonia history, parental asthma, Trichuris infection, use of dry leaves as fuel and other specific IgE levels. The prevalence of Ascaris infection by the presence of wheezing was not significantly different (76% vs. 72%, respectively). Conclusion We conclude that a high titre of anti-Ascaris IgE is associated with an increased risk of asthma symptoms among 5-year-old rural Bangladeshi children with a high helminthic infectious load.

Non invasive fractional flow reserve derived from CT coronary angiography (CT-FFR) has to date been typically performed using the principles of fluid analysis in which a lumped parameter coronary vascular bed model is assigned to represent the impedance of the downstream coronary vascular networks absent in the computational domain for each coronary outlet. This approach may have a number of limitations. It may not account for the impact of the myocardial contraction and relaxation during the cardiac cycle, patient-specific boundary conditions for coronary artery outlets and vessel stiffness. We have developed a novel approach based on 4D-CT image tracking (registration) and structural and fluid analysis, to address these issues. In our approach, we analyzed the deformation variation of vessels and the volume variation of vessels, primarily from 70% to 100% of cardiac phase, to better define boundary conditions and stiffness of vessels. We used a statistical estimation method based on a hierarchical Bayes model to integrate 4D-CT measurements and structural and fluid analysis data. Under these analysis conditions, we performed structural and fluid analysis to determine pressure, flow rate and CT-FFR. The consistency of this method has been verified by a comparison of 4D-CTFFR analysis results derived from five clinical 4D-CT datasets with invasive measurements of FFR. Additionally, phantom experiments of flexible tubes with/without stenosis using pulsating pumps, flow sensors and pressure sensors were performed. Our results show that the proposed 4D-CT-FFR analysis method has the potential to accurately estimate the effect of coronary artery stenosis on blood flow.

In an entomological study in 2002, the degree of domestic and peridomestic infestation with triatomine bugs and the geographical distribution of such infestations were investigated in north-central Guatemala. The survey team searched for triatomines in houses constructed with mud walls or thatched roofs, in villages suspected of being infested. The level of infestation observed was lower than that seen in the same area and in eastern Guatemala, in a preliminary survey, 3 years earlier. Most of the infestations detected were of Triatoma dimidiata but even this species was found in

Although an annual screening programme for lung cancer has been carried out widely in Japan since 1987, there is insufficient evidence to confirm its efficacy in terms of reducing mortality. In order to evaluate the efficacy of the lung cancer screening which has been widely carried out in Japan since 1987, a case–control study was conducted in Niigata Prefecture, Japan. In the study area, chest X-ray examinations for all participants and sputum cytology for high-risk participants were offered annually. Case subjects, who had died from lung cancer (174), and control subjects matched by sex, year of birth, residence and smoking status (801), who had been alive at the time of diagnosis of the corresponding case, were selected from the National Health Insurance holders. Screening histories of the subjects were compared between cases and matched controls for the identical calendar period before the time of diagnosis of the cases. The odds ratio of death from lung cancer for those screened within 12 months vs those not screened was 0.401 (95% CI: 0.272–0.591) with adjustment by smoking index. Our results suggest that annual lung cancer screening might reduce mortality from lung cancer by approximately 60%. © 2001 Cancer Research Campaign

Contraceptive discontinuation has been an important issue in low contraceptive prevalence countries like Yemen. Religious and cultural factors might play a large role in barriers against contraceptive acceptance. This study revealed the characteristics of women who accepted contraception and the factors related to the regularity of visits to a clinic in Yemen.

Despite the high percentage of incarcerated persons with mental illness, surprisingly little is known about effective ways to increase psychotropic medication adherence in prison and upon release. Currently, there are limited definitive data regarding psychotropic medication adherence patterns among incarcerated persons, and the data that exist often miss specific information on changes in behaviour, symptom management and adherence patterns over the length of a person's sentence, which has implications for post-release ability to live in the community. This paper presents the current literature regarding psychotropic medication adherence among mentally ill persons who are incarcerated. The factors identified in support of medication adherence, future clinical research and care strategies are provided.

Obstetric complications are the major causes of death and disability in women of reproductive age. Our study aimed at investigating the use of professional healthcare when women in communities recognised possible life-threatening obstetric conditions (PLTCs). We conducted a survey in a Cambodian district with a population of 130,000. The subjects were women of reproductive age who had delivered babies during a 3-month period prior to the survey. We interviewed 980 women, and 141 (14.4%) of these had PLTCs. The utilisation rates of professional healthcare were 47% for prolonged labour; 42% for bleeding during the delivery and puerperal period; 33% for antenatal bleeding; 25% for convulsion; and 23% for postpartum high fever. A logistic regression analysis revealed that education, geographic accessibility and parity were significant determinants of seeking healthcare. Two additional determinants, namely, economic affluence and antenatal care attendance, were identified in the socioeconomic status (SES) and obstetric models.

Increasing interest has arisen whether helminthic infections protect against asthma and allergy. The prevalence of wheezing among Bangladeshi children is higher in rural areas where helminthic infectious burden is greater, which is contrary to the general assumption.We therefore examined the association between Ascaris infection, serum level of anti-Ascaris IgE, which should be investigated differently from the infection, and wheezing in 5-year-old children from rural Bangladesh.A total of 219 children who reported wheezing during the previous 12 months and 122 randomly selected age-matched individuals who had never experienced wheezing were tested for serum levels of total and specific Ascaris, Dermatophagoides pteronyssinus, alternaria and cockroach IgEs, and for intestinal helminth infection as well.Anti-Ascaris IgE levels were significantly and independently associated with current wheezing during the previous 12 months [odds ratio (OR) per log(e) increment is 1.31 (95% confidence interval (CI) 1.08-1.60), P=0.007], a history of at least four episodes of wheezing [OR per log(e) increment is 1.52 (95% CI 1.18-1.96), P=0.001], wheezing with sleep disturbances [OR per log(e) increment is 1.35 (95% CI 1.10-1.64), P=0.011] and wheezing with speech disturbances [OR per log(e) increment is 1.57 (95% CI 1.19-2.08), P=0.001]. These were adjusted for gender, pneumonia history, parental asthma, Trichuris infection, use of dry leaves as fuel and other specific IgE levels. The prevalence of Ascaris infection by the presence of wheezing was not significantly different (76% vs. 72%, respectively).We conclude that a high titre of anti-Ascaris IgE is associated with an increased risk of asthma symptoms among 5-year-old rural Bangladeshi children with a high helminthic infectious load.

This study aimed to clarify the current state of, and factors associated with, modern contraceptive use among married women in the Maldives. A total of 205 women participated in interviews with structured questionnaires. Four sessions of FGIs were conducted to obtain in-depth information about the problems that they faced in using modern contraceptives. Both modern contraceptive users (MCUs) and those who were not modern contraceptive users (NMCUs) had a good knowledge of, and availability and accessibility to, contraceptives and social support for contraceptive use. NMCUs were more likely to have a husband who disapproved of modern contraceptive practice, to have difficulty communicating with their husband, to be afraid of side effects and to be dissatisfied with sexual sensation when using modern contraceptives. Moreover, NMCUs cited more perceived barriers against the use of modern contraceptives and preferred larger families than MCUs.

The risk of pedestrian injury during childhood in industrialised countries is decreasing in a trend that is related to exposure to traffic. Examining the differences between age groups and their behaviour provides an insight into exposure to risks. Using data for the period 1968-1998, we compared the changes in pedestrian mortality and morbidity in pre-school children (aged 0-6) with those of school-age children (aged 7-12). Pedestrian mortality and morbidity decreased in children of all ages in the early 1970s. However, after the mid-1970s, both mortality and morbidity continued to decrease only in pre-schoolers. In school-age children, mortality continued to decrease but morbidity did not change. These age-related differences in mortality and morbidity indicate that over the past 30 y the environment for child pedestrians did not become safer. Instead, some of the decrease in children's injuries was probably achieved at the expense of their outdoor activities. Efforts to protect children from vehicular traffic should focus on changing the outdoor environment rather than on restricting children's activities.

The 1998 flood in Bangladesh ravaged approximately 60% of the land and affected over 30 million people. The aim of this study is to examine the impact of the flood on the health of the communities affected and to explore factors associated with episodes of diarrhoea. We conducted structured interviews with 517 people in two districts that had been affected in October 1998, when the flood water level was at its peak. Of the 517 respondents, 98.3% developed health problems or found that existing health problems were exacerbated. Many perceived that their general health condition was 'much worse' (16.9%) or 'worse' (64.3%). The most prevalent condition was fever (63.6%), followed by respiratory problems (46.8%), diarrhoea (44.3%), and skin problems (41.0%). Only 1.0% and 6.7% of the respondents treated water before drinking, by boiling and chlorination, respectively, although water collected from tube-wells (93.2%) and rivers (6.0%) was perceived by 75.0% of the respondents to be contaminated. Factors associated with developing or worsening diarrhoea were as follows; the number of family members, poor economic status, a lack of distribution of water purification tablets, the type of water storage vessels, not putting a lid on the vessel, no use of latrines, perceived change of drinking water, food scarcity, and worries about the future. In logistic regression analysis, men, poor economic status, lack of distribution of water purification tablets, and the type of water storage vessels had a significant association with diarrhoea. The 1998 Bangladesh flood had a substantial impact on the health of communities. Diarrhoea was associated with socioeconomic status, water handling and household sanitation. There ought to be more emphasis on health education in the pre-disaster period in order to empower communities against floods.

A cross-sectional anthropometrics survey was carried out in a low-income community of Surabaya, Indonesia, to examine the association between mother's employment and the child's nutritional status for identifying a group at risk of having malnourished children. Subjects were 274 children under the age of 5. The children of non-working mothers had significantly higher height-for-age z-score (HAZ) (p < 0.05) than those of working mothers. When mother's work was divided into 'formal' and 'informal', HAZ and weight-for-age z-score (WAZ) of children of the informal worker's group were significantly lower than those of the non-working mother and the formal worker's group (p < 0.05). Mother's education and income of the formal worker's group were significantly higher than those of the informal worker's group (p < 0.01). Our study identified a group at risk of malnutrition, i.e., children of mothers working in informal sectors. The programs to provide childcare for working mothers should target this particular group of poor households.

The 16S rDNA sequences from ten strains of Thiobacillus ferrooxidans were amplified by PCR. The products were compared by performing restriction fragment length polymorphism (RFLP) analysis with restriction endonucleases Alu I, Hap II, Hha I, and Hae III. The RFLP patterns revealed that T. ferrooxidans could be distinguished from other iron- or sulphur-oxidizing bacteria such as T. thiooxidans NB1-3, T. caldus GO-1, Leptospirillum ferrooxidans and the marine iron-oxidizing bacterium strain KU2-11. The RFLP patterns obtained with Alu I, Hap II, and Hae III were the same for nine strains of T. ferrooxidans except for strain ATCC 13661. The RFLP patterns for strains NASF-1 and ATCC 13661 with Hha I were distinct from those for other T. ferrooxidans strains. The 16S rDNA sequence of T. ferrooxidans NASF-1 possessed an additional restriction site for Hha I. These results show that iron-oxidizing bacteria isolated from natural environments were rapidly identified as T. ferrooxidans by the method combining RFLP analysis with physiological analysis.

Recent advances in investigations into brain function and its clinical application are described. The investigations were divided into three method groups consisting of the examinations of; 1) brain electric activity; 2) imaging techniques on activated brain tissue; and 3) collation of the metabolic information on the area of brain focused on. The first group included electroencephalogram(EEG), dipole tracing(DT) and magnetoencephalogram(MEG). The second one, single photon emission computed tomography(SPECT), positron emission tomography(PET) and functional magnetic resonance imaging(fMRI), and the third, magnetic resonance spectrometry(MRS). Here I overview these examinations and report some cases diagnosed with these technologies.

Vagus nerve stimulation (VNS) has been shown to be efficacious in the treatment of patients12 years of age with refractory partial epilepsies and it is suggested that VNS should be considered as one of the treatment options for these patients.Four patients had partial epilepsies and one had symptomatic generalized epilepsy. After observation of the baseline seizure frequency and the average seizure frequency for 3 months, the VNS system was implanted. Thereafter, seizure frequency, average seizure frequency of each seizure type during the month just before the evaluation, seizure severity, side effects and quality of life were recorded.In four of five patients, overall seizure frequency was reduced50% after VNS treatment. The seizure types that showed a50% reduction in frequency were auras, focal clonic, generalized tonic clonic seizures, astatic, versive, hypomotor, generalized tonic and generalized clonic seizures according to Lüders' classification. In two patients, as major convulsive seizures were reduced in number after VNS treatment, dialeptic seizures (non-convulsive seizure with lapse of consciousness) gradually appeared. In one patient without significant seizure reduction, quick recovery from postictal periods after generalized tonic seizure was seen after treatment. In one patient with generalized epilepsy, improvement of cognitive function was reported by his guardians. After VNS, the number of antiepileptic drugs was reduced from three to one in one patient. No significant adverse effects were noted in any patients.Our results suggest that VNS is well tolerated in young patients with intractable epilepsies and it may be an important non-pharmacologic treatment option for children with severe epilepsies who cannot tolerate medical therapy and/or are not candidates for epilepsy surgery.

Contraceptive discontinuation has been an important issue in low contraceptive prevalence countries like Yemen. Religious and cultural factors might play a large role in barriers against contraceptive acceptance. This study revealed the characteristics of women who accepted contraception and the factors related to the regularity of visits to a clinic in Yemen. Women perceived that accepting contraception was against neither Islam nor their husband's attitudes. They rather paid attention to mother and child health. Regularity of visits was not related to socioeconomic or demographic factors, but was related to satisfaction with family planning services. This implies that different approaches are needed to promote 'continuation' and 'regular visits'. A population policy which promotes birth spacing for maternal health in accordance with cultural contexts should be an effective and acceptable strategy in Yemen. Regular visits could be prompted by increasing the quality of services, including communication between clients and providers about side-effects and alternative choices of methods.

In an attempt to reveal a correlation between the degree of glomerular hypertrophy, interstitial damage, and hemodynamic parameters in chronic nephritis, the glomerular area (GA) and proportion of interstitial area (IA%) were determined quantitatively with an image analyzer, and the effective renal plasma flow (ERPF) and filtration fraction (FF) were determined simultaneously. The subjects were 12 patients with focal glomerulosclerosis (FGS) and 12 patients with IgA nephropathy (IgAN), all of whom had a similar glomerular filtration rate (GFR). The GFR was 58.6 +/- 11.4 ml/min/1.48 m2 in the FGS group and 53.9 +/- 13.1 ml/min/1.48 m2 in the IgAN group, and the difference between the two groups was not significant. On the other hand, ERPF was significantly lower and FF was significantly higher in the FGS group than in the IgAN group. GA was significantly higher in the FGS group than in the control group (10 kidney donors), and GA in the IgAN group was equivalent to that in the control group. IA% was almost equal in the FGS and IgAN groups, and significantly higher in both groups than in the control group. Although GA was not correlated with GFR in the two groups, it tended to be positively correlated with FF in the FGS group, and the correlation between GA and FF reached statistical significance when the IgAN group was combined with the FGS group. The above findings suggest that the pattern of progression of the glomeruli and interstitial lesions and of the intrarenal hemodynamics involved in them may differ in the FGS and IgAN groups. However, since ERPF significantly decreased in the FGS group, even though IA% was the same in both groups, the possibility that ERPF was functionally decreased in the FGS group cannot be ruled out.

We report a case of combined chronic subdural and acute epidural hematoma caused by metastatic hepatocellular cancer of the dura mater. A 44-year-old woman, who had been under treatment for hepatic cancer for one year, presented with right hemiparesis. MRI revealed a chronic subdural hematoma on the left fronto-parietal region with subgaleal and epidural metastasis. The patient was found comatose 7 days later. A huge epidural hematoma in the left parietal region was disclosed with CT scan. She died of hepatic failure despite the evacuation of the hematoma. This is the first reported case with a combined subdural and epidural hematoma secondary to metastatic brain tumor of the dura mater.

The present study was designed to elucidate whether glomerular epithelial cell (GEC) injury is associated with the mechanism of proteinuria in biopsy-proven IgA nephropathy (IgAN). Twenty-four IgAN patients were divided into 4 groups based on their grade of proteinuria. Light microscopic examination revealed that GEC injury appeared prior to glomerular lesions such as sclerosis, crescent and adhesion. Reduced glomerular expression of C3b receptor (CR1), an indicator of GEC injury, was detected initially at the portion of damaged GEC and around the lesions of sclerosis, crescent and adhesion. CR1 expression eventually disappeared in the group IV patients who had nephrotic range proteinuria. Moreover, the grade of proteinuria in IgAN patients was associated with GEC injury and reduced glomerular expression of CR1. Taken together, GEC injury might be an important pathological finding which appears initially in the glomeruli, suggesting that GEC injury is a predictor of proteinuria in IgAN patients.

We report a case of a 65-year-old man with intradipolic epidermoid cyst of the frontal bone. The patient presented with headache and swelling of the forehead. Skull x-ray showed massive destruction of the frontal bone. Magnetic resonance imaging (MRI) revealed an epidural mass without any encroachment of the dura mater. The cystic tumor was removed followed by cranipolasty with methylmethacrylate. Four years later, the tumor recurred in the same region. At the second surgery the bony defect was again replaced with methylemthacrylate plate. Four years after the second operation, the tumor reemerged with some subcutaneous fluid retention. At the third surgery, the remaining tumor capsule was removed as much as possible except for that part which adhered to the superior sagittal sinus. The authors discuss the relationship of tumor recurrence with utilization of methylmethacrylate for cranioplasty in this type of tumor.

We report a 12-year-old with intracerebral hematoma and subarachnoid hemorrhage secondary to the rupture of a peripheral lenticulostriate artery aneurysm. We carried out proximal clipping of the lateral lenticulostriate artery at the middle cerebral artery following six days of continuous ventricular drainage for acute hydrocephalus. Postoperative angiography confirmed the obliteration of the aneurysm. The girl was discharged without any neurologic deficits. To our knowledge, this is a first reported case in the literature of a ruptured peripheral lenticulostriate artery aneurysm in childhood. The pathogenesis of such an aneurysm and the treatment modalities are discussed.

We reported four cases of dysembryoplastic neuroepithelial tumor (DNT) with intractable complex partial seizures, and analyzed their clinical and pathological features. The age of patients ranged from four to nineteen years old. Three were boys and one was a girl. The age of seizure onset ranged from eight months to five years. They did not have any neurological deficits. In all cases, CT scan revealed a low density mass in the temporal lobe. Two cases demonstrated calcifications, and another two cysts. The mass demonstrated low signal intensity in T-1 weighted MR images with mild contrast enhancement by Gd-DTPA. Long-term video-EEG monitoring revealed the epileptogenic focus in the temporal lobe on the side of the mass lesion. Anterior temporal lobectomy with total removal of the tumor was carried out in all cases. Hippocampectomy was performed in three cases in which intraoperative electrocorticogram demonstrated spike discharges in the hippocampus. In the surgical specimens, the tumor consisted of increased astrocytes, oligodendrocytes, and some neurons. A cortical nodule appeared in one case, and cortical dysplasia appeared in two cases. It was difficult to distinguish the tumor of case 3 from ganglioglioma because of mild neuronal atypia. The tumor of case 4 demonstrated increased capillary vessels and was also difficult to differentiate from vascular anomalies. The pathological diagnosis of DNT was still difficult. Consequently, we speculated that DNT included some transitional types between congenital anomalies and ganglioglioma.

We are reporting herein a case with massive intraventricular hemorrhage secondary to prolactinoma, which initially extended into the suprasellar cistern but reduced in size after one year of bromocriptine therapy, resulting in intrasellar herniation. This is the 6th reported case of intraventricular hemorrhage from a pituitary adenoma. Neuroradiographic features are described in detail and the pertinent literature is reviewed.

The purpose of this study was to estimate the effects of daily physical activity on serum total cholesterol (TC) and high density lipoprotein cholesterol (HDL-C), body mass index (BMI) and atherogenic index (AI) in 240 fifth grade schoolchildren, their 174 fathers and 212 mothers. Information on daily physical activity was obtained by inquiry with a questionnaire and was also measured directly with a device sensing acceleration of physical movement. In schoolchildren, effect of physical activity on TC, HDL-C and AI was not apparent, but that on BMI was shown. In adult men, HDL-C differed by job classification and increased as the degree of physical labor increased from desk work to light and heavy work. Strength of physical activity using the quotient of total amount of measured physical activity divided by body weight had a significant positive correlation with serum HDL-C (r = 0.20, p0.05) and significant negative correlation with AI (r = -0.18, p0.05) in adult men. In adult women, daily physical activity did not have a significant correlation to TC, HDL-C, AI or BMI. These results appear to suggest that the effect of daily physical activity on serum cholesterol, AI, BMI of schoolchildren and adult women was smaller than that for adult men.

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with severe central nervous system involvement and muscular atrophy in a 34-year-old male. He had psychomotor retardation and seizures since early childhood and now presented severe mental retardation and generalized muscular atrophy in addition to characteristic facial appearance, hyperelasticity of the skin and joint subluxation. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiographic imaging showed occipital exostoses, bladder diverticula, tortuosity of the peripheral vein and osteoporosis of the skeletal bones. The activity of lysyl oxidase, a copper-enzyme involved in cross-link formation in collagen, was found to be decreased in a skin-biopsy specimen. Electron-microscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of concentric laminated bodies in the subsarcolemmal regions.

We report a 19-year-old girl with multiple sclerosis (MS) who had chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). At the age of 9 (1981), she was diagnosed as having Devic disease, including optic neuritis and transverse myelitis. For two years after the onset of the disease, she suffered from three relapses of MS and was treated with prednisone. At the age of 11, she noticed muscle weakness and sensory disturbance of four limbs. On examination, all tendon reflexes were absent, CSF protein was elevated, and motor nerve conduction velocity of the ulnar nerves was markedly slowed. Sural nerve biopsy showed decreased density of myelinated fibers and de-re-myelinated fibers with onion-bulb formations. Between 11 and 19 years, she had a number of episodes of the central nervous system (CNS) and peripheral nervous system (PNS) deficits with partial or complete recovery by oral administration of prednisone. The clinical course and laboratory data are consistent with MS associated with CIDP. Such our case of MS with CIDP in childhood is very rare. Patients with MS and CIDP may represent a subpopulation who had a common pathogenetic factor for both CNS and PNS demyelination.

The authors report a case of macular involvement in a patient with HTLV-I associated myelopathy (HAM). The patient was a 10-year-old girl who noticed sudden decreased vision in her right eye in November 1987. The corrected visual acuity was 0.01 in the right eye and 1.0 in the left eye. Fundus examination of the right eye disclosed mild optic disc pallor. The macula appeared to have pigmentary mottling with superficial irregular retinal reflex that was three disc diameters in size. Fluorescein angiography revealed a discoid hypofluorescent area in the macula, surrounded by mottled hyperfluorescent areas. She had no contributory family history of ocular disease, but had a history of blood transfusion during an operation for patent ductus arteriosus and ventricular septal defect at the age of 8 months. In November 1990, she developed gait disturbance due to spastic paraparesis and was admitted to our hospital. Antibodies to HTLV-I were markedly elevated in serum (titer, 1:8192) and in cerebrospinal fluid (titer, 1: 1024). She was diagnosed as HAM. Two months later, she developed encephalopathy and bilateral optic disc atrophy.

The authors report a case of 6-month-old boy with cerebellar medulloblastoma associated with malignant rhabdoid tumor of the kidney, presenting with an abdominal mass, large head and projectile vomiting. Following removal of the renal tumor, the mass arising from the superior vermis about 6 cm in diameter was removed by a combined right occipital transtentorial and suboccipital approach. The patient had been well for 3 months after surgery followed by chemotherapy but died eventually of tumor recurrence in the abdomen. Reported cases of malignant rhabdoid tumor of the kidney associated with brain tumor are reviewed and its characteristics are discussed.

The histological and histochemical findings in the respiratory muscles of a patient with severe neonatal nemaline myopathy are described. The patient suffered from frequent pneumonia associated with vomiting due to gastroesophageal reflux and died at 3 months from respiratory failure. The diaphragm was moderately involved and the intercostal muscles mildly involved. Core/targetoid structures were observed in the diaphragm and intercostal muscles.

A five-year old boy was the product of a 40 week pregnancy by vertex presentation complicated only by threatened abortion at approximately 8 weeks gestation. Apgar score was 5 after one minute. At birth he was noted to have a generalized hypotonia associated with facial diplegia, small mandible, weak suck and swallow reflexes. Admission examination revealed small mandible, mask-like facial expression and mild mental retardation. Cranial nerve examination showed bilateral blepharoptosis and facial nerve palsies. Pupil reflexes were normal, but corneal reflexes were impaired bilaterally. Diplopia due to the left abducens nerve palsy was suggested. There was no atrophy of the tongue. Motor tone, strength, and deep tendon reflexes were normal. A normal 46 XY karyotype was present. The other clinical and laboratory findings were normal. MRI of the brain was unremarkable. The characteristics of electrophysiological studies were summarized as follows: 1) Auditory brainstem evoked responses demonstrated waveforms IV-V were abnormal because their amplitudes were less than 30% of wave I bilaterally. 2) Somatosensory evoked potentials documented by central conduction times from cervical region to sensory cortex were prolonged on both sides. 3) Facial nerve conduction velocity was calculated by evoked EMGs of the mentalis muscle electrically stimulated at two distal points over the marginal mandibular branch. MCV of the left side was reduced (34.2 m/sec). 4) The amplitude of the facial muscle potentials evoked by facial nerve stimulation was reduced on both sides. 5) Blink reflex responses documented by the latency difference of R1 responses between the two sides were prolonged.(ABSTRACT TRUNCATED AT 250 WORDS)

To evaluate the relationship between anticardiolipin (ACL) antibody and microthrombi in renal tissue, we examined sera and renal biopsies from 47 patients of systemic lupus erythematosus (SLE) with lupus nephritis (LN). ACL antibody was measured by an enzyme-linked immunosorbent assay (ELISA). Their renal tissues were examined for histological types of lupus nephritis according to the WHO classification and appearance of renal microthrombi. Positive ACL had been shown in 28 of 47 patients (60%) with LN and in 15 of 18 patients (83%) with WHO IV (diffuse proliferative LN: DPLN). Incidences of renal microthrombi were significantly higher in patients with DPLN (61%) than in patients with all LN (34%) (p less than 0.01). The prevalence of renal thrombosis in patients with ACL (46%) was significantly higher than without ACL (16%) (p less than 0.05). Incidence of positive ACL was 81% in the cases with renal microthrombi and 48% in the cases without them. These findings suggest that there is strong association between ACL and the renal microthrombi in active LN.

Occipital horn syndrome (OHS; Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes disease. We report a case of OHS in a 34-year-old male, which we believe to be the first Japanese case. He had been noted to have psychomotor retardation since his early childhood and now presents severe psychomotor retardation and muscle atrophy. He shows characteristic facial appearance, hyperelasticity of the skin, joint subluxation and generalized muscular atrophy. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiologic imagings showed occipital exostoses and bladder diverticula. The activity of lysyl oxidase, a copper-dependent enzyme involved in cross-link formation in collagen, was decreased in a skin-biopsied specimen. Electronmicroscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of the concentric laminated bodies in the subsarcolemmal regions.

A patient with benign familial neonatal convulsions was presented. The patient had the first episode of cyanosis on the second day of life. Thereafter, he also experienced focal clonic and/or multifocal clonic seizures. The interictal EEG showed no definite abnormality. Between the seizures he appeared well and physical examination was essentially normal. Treatment with phenobarbital (4 mg/kg/day, P. O.) was started and subsequently he had no further seizures until 3 months. At the age of 4 months, he was admitted to the hospital again because of generalized tonic-clonic seizures. The interictal EEG showed sporadic spikes dominantly in the right central area. The findings of ictal EEG at that time are characterized by fast spiking of increasing amplitude during the tonic phase. During the clonic phase, there are repetitive+ bursts of spikes and sharps mixed with persisting muscle potential. The termination of the convulsion is characterized by general voltage depression. Clinical characteristics such as seizure types, EEG findings, responses to antiepileptic drugs and recurrence of the seizures found in our propositus were compared with those of the patients previously reported in the literature.

Although many reports have been made on the effectiveness of plasma exchange (PE) in active systemic lupus erythematosus (SLE), but there are no clear-cut criteria of indication for lupus nephritis (LN). In order to determine the criteria for indication of LN, 35 patients with LN treated by PE were studied with respect to renal function (F), proteinuria (P), immunological activity (A) and renal histology. The patients were divided into 4 groups according to the severity of renal function: F1 (stable chronic renal failure (CRF) or stable renal function n = 13), F2 (relapse type n = 9), F3 (rapidly progressive LN; creatinine clearance (Ccr) less than 40 ml/min n = 7) and F4 (acute renal failure; Ccr less than 10 ml/min n = 6). Proteinuria was also studied in 4 groups: P1P2 (without nephrotic syndrome (NS], P3 (acute type NS n = 15), and P4 (chronic type NS n = 7). These patients were divided into 3 groups to study immunological activity: A1 (chronic stage n = 6), A2 (relapse stage n = 12) and A3 (active stage n = 17). Comparison was made in each parameter. Renal histological classification according to WHO criteria of LN, activity score (AS) and chronicity score (CS) were evaluated and compared. As a result, the following indication was obtained. 1) ABSOLUTE INDICATION: 1. Rapidly progressive LN with high immunological activity; elevated serum creatinine (SCr) greater than 1.0 mg/dl/month or decreased Ccr from normal renal function to less than 40 ml/min within 1-2 months after onset. 2. Acute type NS within 1 year after onset. 3. histological AS greater than 20. 2) RELATIVE INDICATION: 1. Relapse LN with moderate immunological activity, decreased Ccr from normal function to 40-50 ml/min within 3-6 months, the rise in SCr of greater than 1.0 mg/dl/month. 2. Proteinuria is 1.0-3.5 g/day within 1 year after onset. 3. Such complication as CNS, serositis, thrombocytopenia and leukopenia, steroid resistance and/or severe side effects of steroid. 3) NO INDICATION: 1. CRF or stable renal function (Ccr greater than 50 ml/min). 2. Chronic type NS over 1 years with past history of NS and/or edema. 3. Low immunological activity and mild renal histology.