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71.
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo‐obstruction in a neonate 下载免费PDF全文
Chieko Hisamatsu Naoki Yokoyama Mariko Taniguchi‐Ikeda Hiroshi Yokozaki Kei Murayama Akira Ohtake Kyoko Itoh Yasuhiro Takeshima Kazumoto Iijima 《Pediatrics international》2016,58(7):651-655
A female infant born at 36 weeks gestational age with birthweight 2135 g, and who developed respiratory disorder, hyperlactacidemia and hypertrophic cardiomyopathy after birth, was admitted to hospital at 3 days of age. After admission, bilious emesis, abdominal distention, and passage disorder of the gastrointestinal tract were resistant to various drugs. Exploratory laparotomy was performed at 93 days of age, but no organic lesions were identified and normal Meissner/Auerbach nerve plexus was confirmed, which led to a clinical diagnosis of chronic intestinal pseudo‐obstruction (CIPO). She was diagnosed with mitochondrial respiratory chain complex IV deficiency on histopathology of the abdominal rectus muscle and enzyme activity measurement. This is the first report of a neonate with mitochondrial respiratory chain complex deficiency with intractable CIPO. CIPO can occur in neonates with mitochondrial respiratory chain disorder, necessitating differential diagnosis from Hirschsprung disease. 相似文献
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Keita Hirano Hoichi Amano Tetsuya Kawamura Kyoko Watanabe Kentaro Koike Akihiro Shimizu Satoshi Endo Nobuo Tsuboi Hideo Okonogi Yoichi Miyazaki Masato Ikeda Kazushige Hanaoka Makoto Ogura Satoru Komatsumoto Takashi Yokoo 《Clinical and experimental nephrology》2016,20(3):425-432
Background
In patients with IgA nephropathy (IgAN), recurrence after steroid pulse therapy is associated with reduced renal survival. However, the predictors of recurrence have not yet been clarified.Methods
All patients who received 6-month steroid pulse therapy from 2004 to 2010 in our four affiliated hospitals and achieved a reduction of proteinuria to <0.4 g/day 1 year after treatment were retrospectively evaluated. The primary outcome was proteinuria ≥1.0 g/day during follow-up or additional antiproteinuric therapy. Two histological classifications were evaluated, the Oxford Classification with a split system and Japanese histological grades (HGs) with a lumped system.Results
During a median follow-up of 3.4 years, 27 (26.7 %) of the 101 patients showed recurrence. Multivariate analysis showed that HG was the only significant predictor of recurrence, with HG 2+3+4 vs HG 1 having a hazard ratio of 7.38 (95 % confidence interval 1.52–133). Furthermore, in patients with mesangial hypercellularity according to the Oxford Classification, cumulative rate of recurrence-free survival was greater in patients with steroid therapy plus tonsillectomy compared with those who received steroid therapy alone (Log-rank test, P = 0.022). However, this association was not observed in patients without mesangial hypercellularity.Conclusions
HG is a novel predictor of recurrence after steroid pulse therapy in patients with IgAN. Moreover, the combination of steroid pulse therapy plus tonsillectomy may indicate a lower risk of recurrence in patients with mesangial hypercellularity, as defined by the Oxford Classification.74.
Hideyo Tsutsui Kyoko Nomura Takayoshi Ohkubo Nobuaki Ozaki Masataka Kusunoki Tetsuya Ishiguro Yoshiharu Oshida 《Clinical and experimental nephrology》2016,20(2):187-194
Background
We previously demonstrated validation of the Comprehensive International Classification of Functioning, Disability and Health Core Set for Diabetes Mellitus (ICF-CS for DM) in patients with diabetic nephropathy (DMN). The objective of the present study was to identify differences in experience of physical and psychosocial problems between DMN patients with and without hemodialysis (HD), and diabetes patients without nephropathy using the ICF-CS for DM.Methods
A total of 302 diabetes outpatients (men, 68 %; mean age, 62 years) were interviewed using four components of the ICF-CS for DM including “Body functions”, “Body structures”, “Activities and participation”, and “Environmental factors”.Results
The mean number of categories in which difficulty was experienced in the four components was significantly greater in DMN patients with HD followed by DMN patients without HD, and diabetes patients without nephropathy (23.9 vs. 18.0 vs. 13.1, respectively). Multivariate logistic regression models revealed that, compared with diabetes patients without nephropathy, diabetes patients with nephropathy were more likely to have difficulty with physical problems and social activities and participation. Among DMN patients, dialysis patients were found to have larger numbers of problems, and face difficulty with employment status after adjusting for sex, age, type, and duration of diabetes.Conclusion
The results of this study using the ICF-CS for DM identified the areas for improvement among physical and psychosocial problems in DMN patients with and without HD in contrast to diabetes patients without nephropathy.75.
Pneumo- and neurotropism of avian origin Italian highly pathogenic avian influenza H7N1 isolates in experimentally infected mice 总被引:1,自引:0,他引:1
Rigoni M Shinya K Toffan A Milani A Bettini F Kawaoka Y Cattoli G Capua I 《Virology》2007,364(1):28-35
An experimental infection of mice was performed in order to investigate the potential for interspecies transmission in mammals of Italian HPAI viruses of the H7N1 subtype. Three avian origin isolates were selected, two strains obtained from ostrich (one of which contained a PB2-627 Lysine residue) and one from a chicken. Following intranasal infection of mice, clinical signs and mortality were recorded in the experimental groups challenged with the two ostrich isolates, while only weight loss was observed in those receiving the chicken strain. Viruses were recovered to a varying extent from respiratory and nervous tissues of infected animals. These results suggest that HPAI viruses, other than H5N1 and H7N7, may have zoonotic implications, and support the consensus that AI infections in poultry are to be eradicated rather than contained. 相似文献
76.
Ogura K Kimoto S Yamaguchi H Kobayashi K 《The International journal of prosthodontics》2007,20(4):423-431
PURPOSE: To define the normative ranges of the Current Perception Threshold (CPT) of the palatal mucosa and to correlate it with the subjects' attributes. MATERIALS AND METHODS: A group of 129 informed healthy subjects consented to participate in the study. A Neurometer NS3000 device was used to evaluate the CPTs of the nasopalatine nerve (NPN) and the greater palatine nerve (GPN) by using 2000-, 250-, and 5-Hz stimulations. After confirming the relationships with regard to gender, age, weight, height, alcohol consumption, duration of sleep, weight percentage of water content, smoking, and CPT, the normative ranges of the CPT measurements were obtained. RESULTS: Correlations were observed between age and CPTs obtained with the 2000- and 250-Hz stimulations of the GPN. The CPTs of the GPN were higher than those of the NPN. With the exception of the 5-Hz stimulation of the NPN, the CPTs in men were higher than those in women; however, the within- and between-site ratios exhibited no differences between the male and female subjects. No significant effects of smoking and alcohol consumption on CPT were observed. Range analysis revealed an increase in the CPTs as the frequency increased from 5 to 250 to 2,000 Hz. Within-site ratio analysis revealed increasing and spreading CPT ratios in the following order: 250/5 Hz, 2000/250 Hz, and 2,000/5 Hz. In the order of 5-, 250-, and 2000-Hz stimulations, decreasing ratios were observed for the between-site ratio analysis. CONCLUSION: This study provides useful diagnostic criteria for CPTs in the palatal mucosa. 相似文献
77.
Ogita K Ai M Tanaka A Ito Y Hirano T Yoshino G Shimokado K 《Clinica chimica acta; international journal of clinical chemistry》2007,376(1-2):96-100
BACKGROUND: The atherogenicity of small dense low-density lipoprotein (sdLDL) has been reported and recently a new easy-handling method for measuring serum concentration of sdLDL cholesterol (sdLDLC) has been developed. Using this method, we observed the circadian rhythm of sdLDLC to determine the adequacy of fasting measurement of it and to seek the modulator of the atherogenic lipoprotein. METHODS: Study population was consisted of 20 healthy volunteers (10 women and 10 men, mean age 28 y). They had 3 meals per day and blood samples were taken before and 2 h after every meal and next morning. Serum concentrations of sdLDLC and other valuables including triglyceride (TG) and remnant-like particles cholesterol (RLPC) were determined. RESULTS: Serum concentration of sdLDLC had a unique circadian rhythm that was highest before breakfast (fasting status), decreased after each meal, hit the bottom after dinner and then increased during at night. Fasting sdLDLC was highly correlated with TG levels. The sum of the 6 TG values during a day (i.e., average TG level) had higher correlation coefficient with sdLDLC than fasting TG or fasting RLPC. CONCLUSIONS: From the observation of the unique circadian rhythm, measuring sdLDLC at fasting status is exactly reasonable because it never underestimate the risk of atherosclerotic diseases. Measuring sdLDLC can also be used as a marker for average TG levels regardless of the existence of postprandial hyperlipidemia. 相似文献
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Hiroyuki Torisu Kyoko Watanabe Keiko Shimojima Midori Sugawara Masafumi Sanefuji Yoshito Ishizaki Yasunari Sakai Hironori Yamashita Toshiyuki Yamamoto Toshiro Hara 《Brain & development》2014
This paper documents the case of a female Japanese patient with infantile focal epilepsy, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14 months. At the time of onset, interictal electroencephalography (EEG) showed bilateral parietotemporal spikes, but the results of neurologic examination and brain magnetic resonance imaging were normal. Her seizures were well controlled with carbamazepine, and she had a normal developmental outcome. EEG abnormalities, however, persisted for more than 6 years, and the spikes moved transiently to the occipital area and began to resemble the rolandic spikes recognized in benign childhood epilepsy. Her father had paroxysmal kinesigenic dyskinesia, with an onset age of 6 years, and her youngest sister had typical benign infantile seizures. Genetic analysis demonstrated that all affected members had a heterozygous mutation of c.649_650insC in the proline-rich transmembrane protein-2 (PRRT2) gene. This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy. 相似文献
80.