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51.
    
SLC25A1 mutations are associated with combined D,L‐2‐hydroxyglutaric aciduria (DL‐ 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV. Five infants of two consanguineous Bedouin families of the same tribe presented with small head circumference and neonatal‐onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development culminating in early death. Ventricular septal defects (VSD) were demonstrated in three patients. Blood and CSF lactate were elevated with normal levels of plasma amino acids and free carnitine and increased 2‐OH‐glutaric acid urinary exertion. EEG was compatible with white matter disorder. Brain MRI revealed ventriculomegaly, thin corpus callosum with increased lactate peak on spectroscopy. Mitochondrial complex V deficiency was demonstrated in skeletal muscle biopsy of one infant. Homozygosity mapping and sequencing ruled out homozygosity of affected individuals in all known complex V‐associated genes. Whole exome sequencing identified a novel homozygous SLC25A1 c.713A>G (p.Asn238Ser) mutation, segregating as expected in the affected kindred and not found in 220 control alleles. Thus, SLC25A1 mutations might be associated with mitochondrial complex V deficiency and should be considered in the differential diagnosis of mitochondrial respiratory chain defects.
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52.
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Background: Several studies indicate that chemokines play important roles in colorectal mucosal immunity.The chemokine CXCL5 which is expressed by epithelial cells within colorectal mucosa is a promoter of cell proliferation,migration and invasion, is a novel serum prognostic marker in patients with colorectal cancer. The purpose of this studywas to investigate whether serum and tissue CXCL5 levels is altered in colorectal carcinomas (CRC) compared to colonicadenoma and normal mucosa.It also aimed to compare colon adenoma and colorectal cancer for blood CXCL5 andCEA levels, their sensitivity, and specificity. Methods: CXCL5 expression was assessed with immunohistochemistrystaining in biopsy samples taken during colonoscopy in 22 colonic adenomas, 23 colorectal carcinomas and 23 normalcolonic tissue samples. Also all patients’ serum CXCL5 and CEA levels were measured. This stduy was prospectiveobservational study. Results: The number of cases who were stained positive with immunohistochemistry was found tobe higher in the group with CRC. When compared with the other groups, both levels of serum CXCL5 and CEA weresignificantly high in the group CRC. Sensitivity and specificity of serum CXCL5 were found to be low as a result ofthe ROC analysis. Conclusion: Although the level of CXCL5 is high in CRC, its level in serum is not significantenough to support the early diagnosis of the disease.  相似文献   
53.
The aim of this study was to examine solvent-associated effects on blood cytokine levels, antioxidant enzyme activities, and malondialdehyde (MDA) concentration in house painters. Trace element (Cu and Zn) and nitrite and nitrate levels as well as protein concentrations in erythrocytes and serum were determined. Thirty male house painters and 30 male clerical workers were included in the study. There were 13 smokers and 17 nonsmokers in each group. Hemoglobin concentrations were significantly lower in house-painter blood compared to controls. House painters had significantly higher concentrations of erythrocyte protein (excluding hemoglobin), whereas no significant difference was observed between serum protein levels. Proinflammatory cytokine levels, such as tumor necrosis factor-alpha and interleukin-8, were significantly increased in house painters' sera. Interleukin-6 was below the detection limit of the assay in both groups. Interleukin-1beta and cytokine receptor interleukin 2R concentrations were not significantly affected. Furthermore, a three- to fourfold increase in nitrite and nitrate concentrations was found in house painters' sera. Serum superoxide dismutase (SOD) and glutathione peroxidase (GSHPx) activities were significantly lower in house painters compared to controls. Malondialdehyde (MDA) concentration, a measure of lipid peroxidation, was found to be significantly elevated. In house painters, erythrocyte carbonic anhydrase and catalase activities were elevated approximately 11- fold and 2-fold, respectively. Zinc levels were significantly decreased in house painters' sera. Smoking was not found to be a major confounder for the association between solvent exposure and blood parameters.  相似文献   
54.
Spontaneous bladder rupture is a very rare condition. The majority of the cases are due to long-term indwelling catheters, radiation, or acute infravesical obstruction. Spontaneous rupture of the bladder due to inflammation is extremely rare. A case of intraperitoneal bladder rupture due to chronic cystitis is reported. Exploratory laparotomy and partial cystectomy were performed. Diagnosis and treatment are discussed.  相似文献   
55.
Demir C  Teke K  Fedai T  Kenar L  Bilgic H  Sen D 《Military medicine》2002,167(10):817-820
BACKGROUND: Medical services play a major role in hospital facilities. Along with the medical applications and diagnoses, physicians affect the hospital costs by 70% to 80%. Therefore, the hospital administrators should establish some systems that can modify the current application models of physicians. OBJECTIVE: This study aimed to investigate the appropriateness of hospitalization days and length of stay of the patients in 13 internal clinics in a military hospital. STUDY DESIGN: 5,205 patient days belonging to 416 patients were evaluated by Appropriateness Evaluation Protocol. Patients' data were retrospectively collected by using a "data collection form" through patients' files and then were evaluated by frequencies and percentage distributions. RESULTS: The unnecessary hospitalization rate and unnecessary stay rate were 4.8% and 15.75%, respectively. The highest unnecessary hospitalization rates were in nuclear medicine (50%). CONCLUSION: It was concluded that the inappropriate hospitalization rate and inappropriate stay rates were 4.8% and 15.75%, respectively.  相似文献   
56.
Coronary by-pass on a beating heart may provide a safer form of surgical revascularization by avoiding the well-documented side effects of cardiopulmonary by-pass. In addition, off-pump bypass is suggested to be a good alternative to on-pump especially in high risk patients. This study reviews the feasibility of coronary by-pass on the beating heart in all patients referred to surgery. Two hundred and ninety-four patients operated on the beating heart were prospectively followed and compared to the control group of 100 consecutive patients operated with the conventional method. There were no significant differences between the groups with respect to risk factors, except the incidence of chronic obstructive pulmonary disease and ejection fraction which were higher in the conventional group, whereas peripheral vascular disease was higher in the beating heart group. There was more distal anastomosis in the conventional group. Postoperative inotrope requirement, peak creatine phosphokinase- MB, ventilation time, blood loss in the first 24 h, transfusion needs, new atrial fibrillation and length of hospital stay were significantly lower in the beating heart operations. However, there were no significant differences between the groups in terms of neurological complications, chest infection, intraaortic balloon pump usage and mortality. In conclusion, multivessel off pump coronary by-pass is feasible with the same or better results as it is observed in the conventional technique when postoperative bleeding, neurogenic complications, arrythmias, hospital stay, overall morbidity and mortality are compared.  相似文献   
57.
58.
OBJECTIVE: Condylus occipitalis is presented in postmortem anatomic studies. There is no clinical study in the literature. Myelopathy due to anomalies of the craniovertebral junction is rare in neurosurgical practices. To our knowledge, myelopathy due to condylus occipitalis has not been reported before. Deaths of two cases were previously reported, but these were not live cases. METHODS: We describe the case of a 40-year-old woman presenting with progressive myelopathy related to condylus occipitalis located in the anterior foramen magnum region. RESULTS: Magnetic resonance imaging and computed tomography showed the condylus occipitalis, marked stenosis of the spinal canal at the level of the atlas, with cord compression and evidence of myelopathy. We performed posterior decompression without fusion and duraplasty. Because the cervicomedullary compression syndrome was not resolved, a transoral decompression could not be done owing to pulmonary insufficiency. CONCLUSIONS: This unique clinical article (a live case), not anatomic, presents a very rare abnormality of the craniovertebral junction. Myelopathy is a very important complication of this congenital craniovertebral junction abnormality. Posterior decompression seems not to be effective for myelopathy due to condylus occipitalis. In our opinion, anterior decompression is needed in this condition. A larger series will be needed to better define its role in the management of this anomaly.  相似文献   
59.
An 18-year-old female patient suffering from a painful right-sided neck mass was admitted to our emergency service. Computed tomography of the neck revealed thrombosis of the right internal jugular vein. Computed tomography of the chest indicated septic pulmonary emboli in both lungs. Blood and oropharyngeal cultures showed proteus that was sensitive to cefepime and amicasin. Chemotherapy was administered for 12 days, however, her complaints continued with fulminant progression. An urgent decompression and excessive debridement were performed. Although Lemierre syndrome is a well-known cause of internal jugular vein thrombosis, association with proteus culture is very rare.  相似文献   
60.
Purpose To determine the optimal timing of surgery after adriamycin treatment, we investigated the time-related effect of adriamycin on wound healing over a long period.Methods We divided 119 female Sprague-Dawley rats into seven treatment groups. Group 1 was subjected to laparatomy only. All the other groups were given 8mg/kg adriamycin intravenously followed by laparotomy on the same day (group 2), 7 days later (group 3), 14 days later (group 4), 21 days later (group 5), 28 days later (group 6), or 35 days later (group 7). On postoperative day 7, the sutures were removed, abdominal bursting pressure was measured, and tissue samples were taken for histopathological evaluation and analysis of hydro-xyproline content.Results Bursting pressures were significantly lower in groups 3, 4, 5, and 6 than in group 1. The hydroxyproline content and histopathological evaluation supported these findings.Conclusions Our results showed that the optimal timing for surgery after adriamycin treatment is before the 7th day or after the 35th day. If surgery is performed between these days, there is a high risk of impaired wound healing.A preliminary study on this subject was accepted as a poster presentation at the Congress of the European Surgical Society of Oncology (ESSO) in 2002  相似文献   
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