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1.
An infant with X-linked recessive ornithine transcarbamylase deficiency is described who also had severe deficiency of plasma and liver carnitine during normoammonemic periods. Treatment with L-carnitine (100 mg/kg/day) for 12 months decreased the frequency of hospitalizations for hyperammonemia, although it did not alter his neurologic status. This report demonstrates that persistent carnitine deficiency may be present in patients with ornithine transcarbamylase deficiency even when plasma ammonia is normal. Carnitine evaluation and supplementation may be important in the treatment of patients with this metabolic disorder. 相似文献
2.
Murat Hamit Aytar Fikret Doğulu Berker Cemil Ertan Ergün Gökhan Kurt Kemali Baykaner 《Child's nervous system》2007,23(6):719-721
Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine,
and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence.
This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as
anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders,
diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal
atresia.
Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term
survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think
that this patient presents a mild form of iniencephaly. 相似文献
3.
Murat Kuloglu Murad Atmaca Bilal Ustündag Halit Canatan Omer Gecici Ertan Tezcan 《European neuropsychopharmacology》2003,13(2):67-71
The pathophysiology of akathisia still remains controversial. Iron deficiency was proposed to be an important factor in the development of akathisia. In the present study, it was aimed to compare levels of serum iron and linked variables in chronic akathisic (n=30), and non-akathisic patients (n=30) with schizophrenia and healthy controls (n=30) because of the controversy in the association of iron and akathisia. The Barnes Akathisia Scale for akathisia and Simpson-Angus Rating Scale for extrapyramidal side effects were used. Serum iron and linked variables and hematological profile of the patients and control subjects were determined. Serum iron levels were significantly lower both in akathisic and non-akathisic groups compared to the control group (P<0.001). Moreover, akathisic patients had significantly lower iron levels than non-akathisic patients (P<0.05). Total iron binding capacity was significantly higher in patients with akathisia compared to the control group (P<0.01). Although non-akathisic patients had a mild increase in total iron binding capacity, it was not statistically significant compared to the control group (P>0.05). Ferritin levels were determined to be significantly lower in both groups compared to the control group (P<0.01). In addition, there was a significant difference in ferritin levels between the patients with and without akathisia (P<0.05). In conclusion, our results support the hypothesis that an association between akathisia and iron metabolism exists. 相似文献
4.
T Hoehn M William A R McPhaden H Stannigel E Mayatepek R M Wadsworth 《The European respiratory journal》2006,27(6):1311-1315
Abnormal growth and development of lymphatic pulmonary structures leads to severe hypoxia in congenital pulmonary lymphangiectasis (CPL). This case study aims to determine the cellular source and topographical distribution of the nitric oxide synthases in CPL. It studies the post mortem tissue of a term newborn with the clinical course and histological findings of CPL and three controls without pulmonary pathology. It was found that endothelial cells of pulmonary arteries and lymphatic structures stained significantly more for endothelial nitric oxide synthase protein in the CPL patient compared to the controls. The authors conclude that synthesis of endothelial nitric oxide synthase is upregulated in vascular and lymphatic endothelial cells in congenital pulmonary lymphangiectasis. 相似文献
5.
A microcapsule form of nitrofurantoin was prepared by a simple coacervation method with carboxymethylcellulose and aluminium sulfate. 33 factorial design was performed for three independent variables, namely, the particle size of the drug, the size of the microcapsules and the pH of the dissolution medium. The dissolution tests with the formulated microcapsules were carried out according to the United States Pharmacopeia XXII rotating basket method at pH 1.2, 5 and 7.5, which represent the pH of gastrointestinal fluids. Release data were examined kinetically and the ideal kinetic models were estimated and t 63.2 values obtained from RRSBW distribution were used in the factorial design experiment. The influence of the independent variables on the dissolution of nitrofurantoin microcapsules could be expressed as the pH of the dissolution medium > particle size of the microcapsule > particle size of nitrofurantoin. The other aim of this study was to evaluate microcapsule formulation in terms of the United States Pharmacopeia criteria with a minimum of experiments. Our findings suggest that dosage forms which comply with the pharmacopoeia criteria for dissolution can be prepared and selected by factorial design. 相似文献
6.
7.
Thomas Meissner Michael Leichsenring Ertan Mayatepek 《Clinical chemistry and laboratory medicine》2004,42(9):1005-1008
Odd-numbered long-chain fatty acids (OLCFAs) increase in total erythrocyte lipids or plasma in patients with propionic acidemia and have been proposed as a useful parameter of metabolic control. However, up to now no parameter for long-term metabolic control has been available for this disorder. In contrast to previous investigations, we investigated OLCFAs with particular reference to differences for two phospholipid fractions of erythrocyte lipids. The phosphatidylethanolamine (PE) fraction of erythrocyte lipids has a slow turnover rate and might reflect the metabolic propionyl-CoA burden over a period of some weeks. Distinct increases in OLCFA of up to 200% in the phosphatidylcholine fraction were observed after episodes of metabolic decompensation and maximum OLCFA levels were found 3 weeks after the onset of a crisis. As a sign of poor metabolic control, OLCFA levels in PE steadily increased after recurrent episodes of decompensation, but not in clinically stable patients. However, in one patient with clinically good metabolic control, OLCFAs continually increased after the second year of life for an as yet unknown reason. In conclusion, data from this study indicate the usefulness of OLCFA analysis in the PE fraction of erythrocyte lipids, in particular with regard to the need for such a parameter for evidence-based improvement of management strategies in propionic acidemia. 相似文献
8.
9.
Progressive motor syndrome in a welder with pallidal T1 hyperintensity on MRI: A two-year follow-up.
Chronic exposure to manganese (Mn) fume during welding may lead to mainly extrapyramidal syndrome that is resistant to treatment. We present a 32-year-old patient who developed severe postural instability, Parkinsonism, dystonia, and pyramidal signs in the 10th year of welding. The neurological condition of the patient worsened markedly in the following 3 years, resulting in severe disability rendering him to be assisted in all his daily activities and he did not benefit from any dopaminergic agent. T1 sequences of the MRI of the brain showed pallidal hyperintensity symmetrically. Welders in our country often protect their eyes but ignore to use tools that protect them from inhalation of the fume. Since chronic Mn toxicity may cause serious disability and irreversible neurological disturbances, we strongly believe that it is necessary to inform welders and their employers about this potential hazard. 相似文献
10.
A mature cystic teratoma in pineal region mimicking parietal encephalocele in a newborn 总被引:1,自引:0,他引:1
M. Kemali Baykaner Ertan Ergun Berker Cemil Pelin Bayik Hakan Emmez 《Child's nervous system》2007,23(5):573-576
Objective Teratoma is the most frequently encountered intracranial tumor at birth and constitutes 18–20% of all germ cell tumors. They
are usually located in pineal and suprasellar regions. The authors aim to report an extremely unusual presentation, location,
and appearance of a teratoma in a newborn.
Case report A soft tissue swelling in the vertex was detected in a 1-month-old girl. Neurological examination was normal. A big, cystic–solid
lesion beginning from pineal region and extending to the scalp was detected in magnetic resonance imaging. It is interesting
to note that cerebral venous angiography showed that the superior sagittal sinus (SSS) was divided into three branches at
the level of the lesion and they joined together distally. The tumor was excised totally. Histopathological examination revealed
the diagnosis of a mature cystic teratoma.
Conclusion A mature cystic teratoma mimicking parietal encephalocele is extremely rare. Germ cell tumors should be kept in mind in the
differential diagnosis of all midline lesions with unusual radiographic appearance. Cerebral venous angiography or MR angiography
must be performed for the diagnosis and the surgical planning in lesions located near SSS. 相似文献