'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.
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Biomedical subjects
Publications and source records attributed to T Shimizu.
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Bilateral independent periodic lateralized epileptiform discharges (BIPLEDs) usually appear transiently in patients with severe disturbances of consciousness and are indicative of a poor prognosis. Recurrent BIPLEDs have not previously been reported in the literature. We report a 64-year-old patient with bilateral hippocampal lesions (cerebral infarction) who exhibited persistent periodic lateralized epileptiform discharges (PLEDs) (chronic PLEDs) associated with recurrent BIPLEDs. Electroencephalography was recorded for more than 6 months. Left hemispheric PLEDs appeared first. Next, PLEDs shifted to the right hemisphere and BIPLEDs occasionally developed. Brain magnetic resonance imaging and single-photon emission computed tomography with technetium-99-hexamethyl-propyleneamine oxime was performed before and after the appearance of BIPLEDs. The patient had no remarkable clinical symptoms aside from mild memory impairment for this period of time. This is the first case of recurrent 'benign' BIPLEDs, that is, BIPLEDs with a positive prognosis.
Bacterial meningoencephalitis occurring in the pre-engraftment period after bone marrow transplantation (BMT) is a rare complication, and the feasibility of granulocyte transfusion (GTX) in such cases remains to be elucidated. A 37-year-old man developed enterococcal meningoencephalitis during a severely granulocytopenic pre-engraftment period after BMT. Despite therapy with appropriate antibiotics, cultures of blood and cerebro-spinal fluid (CSF) continued to grow Enterococcus faecalis, and he developed rapid mental deterioration and seizure. Granulocytes were collected from his HLA-mismatched, ABO-matched sibling with subcutaneous injection of granulocyte colony-stimulating factor (G-CSF) and oral dexamethazone. Transfusion of 4.4 x 10(10) granulocytes resulted in a 12-h post-transfusion granulocyte increment of 2.0 x 10(9)/l, and maintained peripheral blood granulocyte counts above 0.5 x 10(9)/l for 3 days. A rapid increase of granulocytes in CSF was also observed, and cultures of blood and CSF became negative after GTX. A transient worsening of seizure was observed as a potential side effect of GTX. The patient subsequently developed septic shock because of Pseudomonas aeruginosa and died. Further studies are warranted to evaluate the clinical efficacy of GTX for the treatment of uncontrolled infections in granulocytopenic stem cell transplant recipients.
To establish the most appropriate prophylactic therapy and risk factors for predicting hemorrhagic cystitis (HC) after stem cell transplantation (SCT), we retrospectively analyzed the clinical records of 450 transplant patients treated from 1982 to 2002. In all, 81 patients developed early- and/or late-onset HC (early=29, late=48, both=4). For the incidence of early-onset HC, administration of cyclophosphamide (CY) (p=0.0079, odds ratio (OD)=5.109, 95% confidence interval (CI)=1.533-17.030), busulfan (BU) (p=0.0015, OD=3.336, 95% CI=1.584-7.027), BU+CY (p=0.0001, OD=4.369, 95% CI=2.055-9.292), antithymocyte globulin (p=0.0009, OD=3.368, 95% CI=1.642-6.911), nonradiation (p=0.0163, OD=2.564, 95% CI=0.181-0.841), 2-mercaptoethane sodium sulfonate (Mesna) (p=0.0001, OD=7.519, 95% CI=2.847-19.858), and bladder irrigation (p=0.0001, OD=4.950, 95% CI=2.328-10.523) were risk factors. By Fisher's exact test, the combination of BU and Mesna was a more significant risk factor (P<0.001) than Mesna alone (p=0.008) compared to the administration of neither agent. By multivariate analysis, prophylactic administration of Mesna (p=0.0105, OD=5.301, 95% CI=1.477-19.026) and bladder irrigation (p=0.0001, OD=9.469, 95% CI=3.872-23.156) were significant risk factors of early-onset HC. We conclude that (i). high-dose BU as well as CY is a cause of HC, (ii). protective bladder irrigation has an opposite effect, and (iii). Mesna possibly has a toxic effect on bladder mucosa.
The majority of patients with narcolepsy-cataplexy were reported to have very low cerebrospinal fluid (CSF) hypocretin-1 (orexin-A) levels. The hypocretin-1 levels of secondary excessive daytime sleepiness (EDS) disorders are not known. In this study, we found that CSF hypocretin levels in the patients with obstructive sleep apnea syndrome were within the control range. The low hypocretin levels seem to reflect only the presence of cataplexy and DR2 positive in narcoleptics but not EDS itself.
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AIMS: A fluorescent in situ hybridization (FISH) technique using an Enterobacteriaceae-specific probe (probe D) to target 16S rRNA was improved in order to enumerate, within a single working day, Enterobacteriaceae present in food and environmental water samples. METHODS AND RESULTS: In order to minimize the time required for the FISH procedure, each step of FISH with probe D was re-evaluated using cultured Escherichia coli. Five minutes of ethanol treatment for cell fixation and hybridization were sufficient to visualize cultured E. coli, and FISH could be performed within 1 h. Because of the difficulties in detecting low levels of bacterial cells by FISH without cultivation, a FISH technique for detecting microcolonies on membrane filters was investigated to improve the bacterial detection limit. FISH with probe D following 6 h of cultivation to grow microcolonies on a 13 mm diameter membrane filter was performed, and whole Enterobacteriaceae microcolonies on the filter were then detected and enumerated by manual epifluorescence microscopic scanning at magnification of x100 in ca 5 min. The total time for FISH with probe D following cultivation (FISHFC) was reduced to within 7 h. FISHFC can be applied to enumerate cultivable Enterobacteriaceae in food (above 100 cells g-1) and environmental water samples (above 1 cell ml-1). CONCLUSIONS: Cultivable Enterobacteriaceae in food and water samples were enumerated accurately within 7 h using the FISHFC method. SIGNIFICANCE AND IMPACT OF THE STUDY: A FISHFC method capable of evaluating Enterobacteriaceae contamination in food and environmental water within a single working day was developed.
OBJECTIVE: Recent studies of urine-based enzyme-linked immunosorbent assays (ELISA) for detection of antibody to Helicobacter pylori (H. pylori) have already shown high sensitivity and specificity in adults. The diagnostic accuracy of these assays in children was investigated. METHODS: The results of serum and urine-based ELISAs were compared with those of 13C-urea breath tests (13C-UBT) and/or detection of faecal H. pylori antigen in 68 children. The effect of urine total immunoglobulin G (IgG) levels on the ELISA results for anti-H. pylori antibodies in urine was also examined. RESULTS: The sensitivity, specificity and accuracy of the serum ELISA were 72.7%, 96.3%, and 92.3% respectively, while those of the urine-based ELISA were 92.3%, 76.4%, and 79.4% respectively. The level of urine total IgG in children with false-positive results in the urine-based ELISA, was significantly higher than that in children who showed negative results in both the urine-based ELISA and the 13C-UBT and/or faecal H. pylori antigen tests. Human gamma-globulin affected the urine-based ELISA results at final concentrations of 2.0 mg/dL, 3.0 mg/dL, and 4.0 mg/dL; the anti-H. pylori antibody values were significantly higher than the ELISA values without the addition of human gamma-globulin. CONCLUSION: The findings suggested that the specificity of urine-based ELISA for detection of H. pylori antibodies is low in children, since high urinary levels of total IgG increase the likelihood of false-positive results.
We investigated the effects of inhalation of tea catechin on MRSA in the 24 elderly in patients, who were known to carry MRSA in sputum. The patients in the catechin group (N=12) were administered an inhalation of tea catechin extracts (in saline/bromhexine) (3.7 g/L catechins, 43% of them are composed of epigallocatechin gallate), three times daily with hand nebulizer for four weeks. The clinical effects were compared with the control group (N=12) who were given an inhalation of saline/bromhexine alone. After a week of the course, the numbers of the patients with decreased or disappearance of MRSA in their sputum was significantly higher in the catechin group, compared with that in the control group (seven vs. no patients; P<0.05). The number of patients discharged during the study was significantly increased, and the days of hospital stay were significantly decreased in the catechin group compared with those in the control group (six vs. one patient; P<0.05, 51+/-22 vs. 85+/-50 days, mean+/-S.D.;P <0.05, respectively). No adverse effects were observed in any patients during the study. Catechin inhalation seemed to be safe, and at least temporarily effective in the reduction of MRSA and shortening of hospitalization.
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AIM: To examined the changes in basal plasma concentrations of glicentin in developing children and the postnatal and postprandial changes in plasma glicentin levels in infants. METHODS: Glicentin, an active component of enteroglucagon, is considered to have a significant trophic action on the intestinal mucosa. Fasting plasma concentrations of glicentin in healthy children and in term and preterm infants were measured before and 30 min after feeding during the first 14 d of life. RESULTS: Plasma basal concentrations of glicentin in children under 1 y of age were significantly higher than those in children aged 1 to 15 y. Plasma basal concentrations of glicentin at 5 or 6 d (2496 and 2190 pg/ml) and at 14 d (2987 and 2817 pg/ml) after birth were significantly higher than those at 1 or 2 d (1098 and 1240 pg/ml) after birth in normal birthweight (NBW) and low-birthweight (LBW) infants. There was no significant difference in the glicentin level between infants at 1 or 2 d (1864 pg/ml) and at 5 or 6 d (1910 pg/ml) after birth in very-low birthweight (VLBW) infants, but the levels at 14 d (3310 pg/ml) after birth were significantly higher than either of those levels. Plasma glicentin concentrations after feeding were significantly higher than those before feeding at 1 or 2 d and at 5 or 6 d after birth in NBW and LBW infants, but a significant increase in the plasma glicentin level after feeding was first observed at 14 d after birth in VLBW infants. There were no significant differences in the basal plasma (2401 and 2718 pg/ml) and postprandial (3007 and 3912 pg/ml) glicentin levels between breastfed and formula-fed infants. CONCLUSION: The results of the study suggest that glicentin may play an important role in intestinal mucosal growth in the early period of life, although its role in VLBW infants should be further investigated.
UNLABELLED: This case reports on idiopathic gastric rupture in a 3-mo-old girl who had frequent episodes of vomiting and abdominal distension the day before admission to the clinic. Metabolic acidosis was detected and rotavirus antigen was identified in the stools. Abdominal X-rays and CT scans revealed free air and fluid in the abdominal cavity, leading to a diagnosis of gastrointestinal perforation. During surgery, idiopathic gastric rupture was detected and treated. The postoperative course was uneventful. CONCLUSION: Idiopathic gastric rupture is extremely rare in childhood beyond the neonatal period. Early diagnosis and surgery are mandatory if children with this condition are to be saved.
AIM: A number of reports have implicated oxygen free radicals in the pathogenesis of Helicobacter pylori (H. pylori)-associated disease. 8-hydroxydeoxyguanosine (8-OHdG) has recently been accepted as a sensitive marker for reflecting the oxidative DNA damage. However, there have been no previous studies comparing the changes in urinary 8-OHdG excretions before and after therapy for eradication of H. pylori infection, or to examine 8-OHdG excretions in children with H. pylori infection. The aim of this study was therefore to examine the DNA damage in gastric mucosal cells in children with H. pylori infection. METHODS: Urinary 8-OHdG excretions were measured before and after therapy for eradication of H. pylori infection in 15 children diagnosed with the H. pylori infection and 13 parents who were also suffering from the same infection. RESULTS: In both the children and their parents, no significant differences were found in urinary 8-OHdG excretions either before or after the eradication therapy. Furthermore, there was no significant difference in urinary 8-OHdG excretions between 8 children with peptic ulcers and 7 children without ulcers, either before or after the therapy. CONCLUSION: These results suggest that measurement of urinary 8-OHdG levels is not useful for evaluation of the DNA damage in H. pylori-infected gastric mucosa in children.
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OBJECTIVE: To determine the incidence and clinical characteristics of spontaneous haemorrhage into metastatic brain tumours after radiosurgery. METHODS: Intratumour haemorrhage rate, clinical features, and treatment were evaluated in 54 patients with 131 brain metastases of varying origin who were treated using linear accelerator radiosurgery. The marginal dose was maintained constant at 20 or 25 Gy, irrespective of tumour size. RESULTS: Haemorrhage was identified in 7.4% of the metastases (five tumours in four patients) before radiosurgery and in 18.5% (10 tumours in 10 patients) after radiosurgery. In three cases, haemorrhage into the tumour after radiosurgery was symptomatic. Half the haemorrhages occurred within one month of radiosurgery. The changes in tumour size observed at the time of haemorrhage were an increase in one tumour, no change in five, and a decrease in four. Haemorrhage into a tumour after radiosurgery was more likely to occur in female patients, in tumours with a larger volume on pretreatment neuroimaging, and in tumours treated with a larger number of isocentres or a higher maximum dose. Haemorrhagic features in the patients or their tumours on presurgical assessment were not disposing factors to haemorrhage after radiosurgery. CONCLUSIONS: When larger brain metastases are aggressively treated by radiosurgery, better local control may be attained but there may also be a higher risk of haemorrhage soon after the treatment.
BACKGROUND: Evidence has accumulated concerning the adverse effects of smoking on hearing acuity, but it is not clear whether smoking modifies the association between exposure to noise and hearing loss. AIMS: To examine the synergistic effect of these variables on hearing. METHODS: Data used were derived from periodic health examinations for 4624 steel company workers in Japan and included audiometry testing and information on smoking habits. Occupational exposure to noise was determined based on company records. Logistic regression was used to examine the dose-response association between smoking and hearing loss. The Cochran-Mantel-Haenszel method was used to calculate the prevalence rate ratio (PRR) of hearing loss for each combination of smoking and noise exposure factors, taking non-smokers not exposed to occupational noise as a reference. The interaction between smoking and noise exposure was assessed using a synergistic index, which equals 1 when the joint effect is additive. RESULTS: Smoking was associated with increased odds of having high frequency hearing loss in a dose-response manner. The PRR for high frequency hearing loss among smokers exposed to occupational noise was 2.56 (95% CI 2.12 to 3.07), while the PRR for smokers not exposed to noise was 1.57 (95% CI 1.31 to 1.89) and the PRR for non-smokers exposed to noise was 1.77 (95% CI 1.36 to 2.30). The synergistic index was 1.16. Smoking was not associated with low frequency hearing loss. CONCLUSIONS: Smoking may be a risk factor for high frequency hearing loss, and its combined effect on hearing with exposure to occupational noise is additive.