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51.
BACKGROUND: An increased susceptibility to infections has been observed in some patients with phenylketonuria (PKU), which is not well known whether it is due to alterations of plasma essential amino acid concentrations or to some other factors. OBJECTIVE: This study is designed to establish B cell and T cell functions in 44 children with classical PKU and tetrahydrobiopterin (BH4) deficiencies and the effects of too high plasma phenylalanine (PA) concentrations (16.53 to 30.54 mg/dL) on the same parameters. DESIGN: B and T cell functions of 33 children with classical PKU (divided into two groups based on fasting mean plasma PA concentrations: Group-I = 20.9 +/- 3.7 mg/dL, Group-II = 3.8 +/- 1.02 mg/dL), and 11 children with BH4 deficiencies (Group III) were studied. The results were compared between the groups and referenced with previously reported values from healthy controls. RESULT: Delayed type skin hypersensitivity responses to purified protein derivative (PPD) in Group I and phytohaemagglutinin (PHA) in Group I, III were lower than the other groups and healthy controls. Plasma IgG and IgM concentrations of Group I was lower than the reference values. Although mean serum zinc and iron levels of all patients were lower than published values of healthy children, zinc and iron deficiencies in Group I, III were much more prominent as compared to Group II. CONCLUSION: The somewhat low plasma IgG concentrations in Group I may be related to the very high plasma PA levels, however the role of zinc deficiency as a causal factor can not be ruled out. BH4 metabolism defects do not appear to affect the same parameters. Impaired delayed skin hypersensitivity responses in Group I and III can be explained by severe serum zinc deficiency. In the light of this study, we conclude that in order to establish a causal relationship between PKU and immune functions, further studies need to be conducted after the correction of micro-nutrient status of such children. 相似文献
52.
We present a case of alpha-mannosidosis with its mutational analysis. She was referred to our hospital with the provisional diagnosis of mucolipidosis. She was the first child of second-degree relative parents. She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness. On peripheral blood smear, lymphocytes revealed vacuoles and neutrophils contained some granules resembling Reilly bodies seen in mucopolysaccharidosis (MPS). Based on these findings, the diagnosis of alpha-mannosidosis was suspected. Her urine oligosaccharide chromatography showed an abnormal pattern with a heavy trisaccharide band. Enzyme studies on white cells confirmed a deficiency of alpha-mannosidase activity, which was 2.6 micromol/g/hr. Her DNA analysis showed a S453Y mutation. 相似文献
53.
BACKGROUND: We aimed to investigate the effect of propofol infusion anaesthesia on acid-base status and liver and myocardial enzyme levels of children during short-term anaesthesia. METHODS: Thirty-six children, aged 3-12 years, were randomized into two groups. In group P (n = 18), induction and maintenance were performed with propofol, 3 mg x kg-1 and 20, 15 and 10 mg x kg-1 x h-1, respectively. In group H (n = 18) following induction with 5 mg x kg-1 thiopenthal, anaesthesia was maintained with 2-3% halothane. Blood samples were obtained following anaesthesia induction and 30, 60 and 120 min after discontinuation of anaesthesia. RESULTS: There was no difference in lactate dehydrogenase, myocardial creatininephosphokinase, aspartate aminotransferase, alanine aminotransferase and cholesterol levels between and within the groups. All postoperative triglyceride levels were higher and pH levels were lower in group P than group H (P < 0.05) and there was no difference within the groups. CONCLUSIONS: In these healthy patients, short-term use of propofol did not result in significant acidaemia, nor alterations in hepatic or myocardial enzyme levels. 相似文献
54.
SUMMARY: Different papers have emphasized the presence of visual-evoked potential (VEP) abnormalities in metabolic disorders. The aim of this study was to perform pattern VEP (PVEP) recordings in patients with chronic renal failure just before and 24 h after dialysis to test the effect of this procedure on visual pathway generated parameters. Twenty-four haemodialysis patients (M/F:14/10; mean age: 48.8 ± 14.1 years) were examined. None of them were complaining from visual difficulties or from visual loss. The recording sessions were performed just before and 24 h after dialysis. The control group consisted from 27 healthy subjects matched for age and sex. Eight (33%) patients demonstrated abnormal P100 latency prolongation in at least one tested eye (six patients in one tested eye, two in both eyes) in the recording session just prior to dialytic treatment. In the post-treatment session, it was found that the abnormal P100 latencies that were present in six patients (75%) before dialysis had returned to normal, while in the remaining two (25%), the latency abnormality persisted. No correlation was found between VEP parameters and dialysis duration, serum blood urea nitrogen (BUN), creatinine, parathyroid hormone and haematocrit levels. However, a positive correlation in the intradialytic percentage variation of bodyweight with P100 latencies was found . Visual evoked potential is a reliable, simple and non-invasive technique that can be used for the investigation and follow up of subclinical involvement of visual pathways in patients with chronic renal failure. Detected abnormalities in some uraemic patients are reversible by using dialysis. 相似文献
55.
Objective: To review, firstly, published studies comparing classic antipsychotics, benzodiazepines, and/or combination of both; and secondly, available data on the use of atypical antipsychotic medications in controlling agitation and aggressive behaviour seen in psychiatric patients in emergency. Method: In the first review, studies comparing antipsychotics, benzodiazepines, and combination of both; and in the second review, efficacy trials of atypical antipsychotics that include an active and/or inactive comparator for the treatment of acute agitation were identified and reviewed. Data from clinical trials meeting the inclusion criteria were summarised by recording improvement rates, definition of improvement, and timing of defined improvement for individual studies. Results: In the first review, 11 trials were identified meeting the inclusion criteria, eight with a blind design. The total number of subjects was 701. These studies taken together suggest that combination treatment may be superior to the either agent alone with higher improvement rates and lower incidence of extrapyramidal side effects. In the review of atypical antipsychotic agents as acute antiagitation compounds, five studies were identified, three with a blind design. The total number of subjects was 711, of which 15% (104) was assigned to the placebo arm. This review found atypical antipsychotics to be as effective as the classic ones and more advantageous in many aspects. Conclusion: Atypical antipsychotics such as risperidone, ziprasidone, and olanzapine with or without benzodiazepines should be considered first in the treatment of acute agitation. If these agents are not available the combination of a classic antipsychotic and a benzodiazepine would be a reasonable alternative. An oral treatment should always be offered first for building up an alliance with the patient and suggesting an internal rather than external locus of control. 相似文献
56.
Evaluation of the mastoid air cell system by high resolution computed tomography: three-dimensional multiplanar volume rendering technique 总被引:3,自引:0,他引:3
Koç A Ekinci G Bilgili AM Akpinar IN Yakut H Han T 《The Journal of laryngology and otology》2003,117(8):595-598
The mastoid air cell system is an important contributor to the pathophysiology of middle-ear inflammatory disease. The mastoid cavity is not only an air reservoir, but also an active space for gas exchange. Various methods of temporal bone imaging have been designed to investigate mastoid pneumatization. In this study, we examined 100 normal temporal bones for the evaluation of mastoid pneumatization. Mastoid air cell systems were measured by reconstructed axial and coronal high resolution computed tomography (HRCT) images. The reconstructions were made by a three-dimensional multiplanar volume rendering (3D MPVR) technique. The mean volume of the mastoid air cell pneumatization was 7.9 cm(3) (4.0-14.0 cm(3), SD = 2.3 cm(3)). The ears were allocated to the groups with respect to measured mastoid air cell pneumatization. Twenty-eight per cent of the ears have small pneumatization with an air cell system not exceeding 6 cm(3). Fifty-two per cent had an air cell system between six and 10 cm(3), and 20 per cent had an air cell system exceeding 10 cm(3). With its excellent imaging quality and the ability to eliminate bone and soft tissue, HRCT is the best method for evaluating the mastoid air cell system. The 3D MPVR technique must be used to measure the temporal bone/mastoid pneumatization for the best results. 相似文献
57.
Cauda equina syndrome (CES) may be caused by tumor, herniated disc, trauma and spinal infections. However, CES due to occult lung cancer has not been reported in the literature. A 50-year-old man presented with a subacute CES caused by an intradural metastasis of an adenocarcinoma of the lung to the lumbosacral cauda fibers. His lumbosacral magnetic resonance imaging (MRI), showed a well-demarcated, intradural extramedullary mass lesion resembling a neurinoma at the L4/5 level. The patient underwent an L4-L5 laminectomy. The operative findings were also suggestive of neurinoma with involvement of three nerve roots, and a well-demarcated tumor without infiltration into the subarachnoid space. Although the findings of the operation were suggestive of neurinoma, final pathological diagnosis revealed metastatic carcinoma. Immunohistochemistry revealed clear cell adenocarcinoma metastasis. Chest X-ray and high resolution contrasted pulmonary computed tomography were normal. Positron emission tomography (PET) showed a lung mass, at the left apex. The patient was treated with chemotherapy and post-operative spinal radiotherapy was also performed. The CES resolved after the operation and the patient was followed up for 2 years with no recurrence. MRI of intradural cauda equina metastasis may be similar to that of intradural nerve sheath tumor. Surgery and postoperative radiotherapy may be effective for the treatment of CES due to lung carcinoma. Definitive diagnosis is by histopathological examination with immunohistochemistry. If the primary cancer cannot be detected by conventional radiological techniques, PET may be helpful. 相似文献
58.
59.
Leyla Tümer Buket Altunta Alev Hasanolu Ouz Söylemezolu Turgay Arinsoy 《Pediatrics international》2000,42(6):678-681
BACKGROUND: Regional variations in the human leukocyte antigen (HLA) distribution patterns of celiac disease (CD) have been reported. The aim of the present study was to assess the distribution of HLA class I and class II in Turkish children with CD and to compare the findings with a control group. METHODS: Human leukocyte antigen typing was performed in 33 children with CD and in 77 healthy individuals, who served as controls, by using standard National Institutes of Health lymphocytotoxicity techniques. RESULTS: A positive association was found between HLA A2 (42 vs 19% for sick subjects compared with healthy controls, respectively), B8 (39 vs. 9% for sick subjects compared with healthy controls, respectively), CW7 (45 vs. 25% for sick subjects compared with healthy controls, respectively), DR3 (70 vs. 17% for sick subjects compared with healthy controls, respectively), DR7 (30 vs. 13% for sick subjects compared with healthy controls, respectively) and DQ2 (52 vs. 34% for sick subjects compared with healthy controls, respectively). The combinations of DR3-DQ2 (30 vs. 12% for sick subjects compared with healthy controls, respectively), DR3-DR4 (21 vs. 1% for sick subjects compared with healthy controls, respectively) and DR7-DQ2 (21 vs. 6% for sick subjects compared with healthy controls, respectively) were also found to be significantly important in children with CD. The highest relative risk (RR) was for HLA B8 in class I (RR 6.50), for DR3 (RR 11.30) in class II and for combination of DR3-DR4 (RR 20.46). The highest etiologic fraction (EF) was for the DR3 antigen (EF 0.55). CONCLUSIONS: The present study emphasizes that HLA genotypes are an important background to CD development, but some additional susceptibility factors remain to be identified. 相似文献
60.
Ay e Pí nar Cemero lu Can Naci Kocaba Turgay Co kun Aytemiz Gü rgey 《Pediatric hematology and oncology》2001,18(8):491-496
Carnitine is not only obtained from animal-derived foods but also synthesized in the body. It plays an important role in the energy metabolism of many tissues, including heart and skeletal muscles. Iron is known to be essential for the biosynthesis of carnitine. Although many conditions are well known to cause secondary carnitine deficiency, iron deficiency, which is a very common condition in children, is not well studied as a cause of secondary carnitine deficiency in humans. This study demonstrates the coexistence of iron deficiency and low carnitine levels in otherwise healthy children. The mean carnitine concentration of 18 otherwise healthy children with iron deficiency anemia was significantly lower compared to the mean carnitine concentration of healthy children without iron deficiency anemia. Based on the evidence about the effect of low iron on carnitine stores in experimental animals, we proposed that low serum carnitine levels in these children may be secondary to iron deficiency. However, further studies need to be done to further clarify this relationship. 相似文献