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Biomedical subjects

E Mayatepek

Publications and source records attributed to E Mayatepek.

At least 145 records · Page 8Linked to original sources
PubMed1992

Effects of indomethacin in congenital chloride diarrhea.

Clinical and biochemical effects of indomethacin were monitored in a patient with congenital chloride diarrhea (CCD) before and after 10 days of therapy. During indomethacin treatment, no clinical improvement could be achieved whereas hyperreninemia and hyperaldosteronism improved. Excretion rates of prostaglandin (PG) E2, PGF2 alpha, as well as PGE-M were found to be slightly raised and decreased during therapy with indomethacin. However, loss of electrolytes remained substantially unchanged. Prostaglandins, therefore, seem to play no important role in intestinal loss of electrolytes in CCD, and it is suggested that indomethacin is of no importance in the treatment of patients with CCD.

18-Hydroxycorticosterone↗
PubMed1991

Severe intrauterine infection due to Capnocytophaga ochracea.

A case of severe neonatal sepsis due to intrauterine infection with Capnocytophaga ochracea, complicated by hypotension, renal failure and disseminated intravascular coagulation, is reported. The role of Capnocytophaga as an organism of increasing importance in intrauterine and peripartum infections is discussed.

Ampicillin↗
PubMed1991

Congenital glaucoma in cutis marmorata teleangiectatica congenita.

A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

Female↗
PubMed1991

[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)].

Glutaric aciduria type I is due to an impaired glutaryl-CoA-dehydrogenase with an increased urinary excretion of glutaric and 3-OH glutaric acid. Typically, the clinical course until the sixth month or even 3rd year of life is symptom free, and only later an encephalopathic crisis develops. The only symptom of our 4 patients was macrocephaly (head circumference greater than 97. percentile) in early infancy. 3 of them suffered from an encephalopathic crisis at 8 months to 3 years of age; during that time they lost already established abilities as sitting, walking and speaking, and developed choereoathetotic movements. One child aged 15 months was normal beside it's macrocephalus. All children were treated with a diet low in lysine (80 mg/kg BW/day), tryptophane (21 mg/kg BW/day), and by supplementation of L-carnitine (200 mg/kg BW/day) and riboflavine (200 mg/day) and the motorically disturbed children received Lioresal 1 mg/kg BW/day. The effect of this treatment cannot be evaluated so far, but there is evidence that the dietetic therapy together with carnitine supplementation may prevent further deterioration in affected, or an encephalopathic crisis in unaffected patients. Therefore we suggest to investigate organic acids in urine in every child or infant with macrocephalus to exclude glutaric aciduria type I.

Amino Acid Metabolism, Inborn Errors↗
PubMed1990

Vitamin E status in Sudanese children with protein-energy malnutrition.

Total tocopherols and alpha-tocopherols were estimated in the plasma of children with severe malnutrition (14 marasmus; 11 marasmic kwashiorkor; five kwashiorkor) and related to the total plasma lipids and different plasma lipid classes. If the mere plasma concentrations were taken as an index of the vitamin E status, five children with marasmus, five children with marasmic kwashiorkor, and two children with kwashiorkor would have been regarded as deficient (less than 500 micrograms/dl). However, if total tocopherols and alpha-tocopherols were related to the total plasma lipids, all malnourished children--except one--showed values within the limits found in healthy American children. The study shows that low tocopherol/lipid ratios are not a constant feature in severely malnourished children.

Child, Preschool↗
PubMed1990

Vitamin E status of Congolese children in a rural area.

The role of vitamin E in severe malnutrition is controversially discussed. In order to evaluate the vitamin E status of unselected African children the plasma tocopherol levels of 52 children from a village in the People's Republic of Congo were assessed by HPLC and related to the plasma lipid values. Although plasma concentrations of total tocopherols (mean 351.1 +/- 59.4 micrograms/dl) and alpha-tocopherol (mean 313.3 +/- 57.0 micrograms/dl) were found to be low, normal ratios of total tocopherols to total lipids (mean 0.99 +/- 0.17 mg/g) and alpha-tocopherol to total lipids (mean 0.89 +/- 0.09 mg/g) were estimated. It is concluded that plasma vitamin E levels should be related to plasma lipids if populations are monitored in which low lipid concentrations have to be expected. These data on Congolese children may be used for comparison if the vitamin E status in other agrogeographical areas of Africa or in clinically abnormal groups is investigated.

Adolescent↗
PubMed1989

Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.

Abnormalities, Multiple↗
PubMed1989

Plasma retinol and tocopherols of breast-feeding Sudanese women.

The status of vitamin A and vitamin E has been evaluated in 69 well-nourished breast-feeding Sudanese women of two villages of the irrigated Gezira area. All were consuming local Sudanese food. Plasma retinol, alpha-tocopherol, and total tocopherol were estimated by HPLC. Tocopherol values have been related to total plasma lipids, cholesterol and phospholipids. The plasma retinol concentrations ranged between 29.19-141.37 micrograms/dl (mean 63.01 micrograms/dl). All values are well above 20 micrograms/dl, the lower cut-off point of normal, and reveal a good vitamin A status. The ratio of total tocopherol/total lipids (mg/g) was with 1.35-2.72 far above the lowest normal ratio of 0.60. This means an excellent vitamin E status. Neither the retinol nor the tocopherol values showed a correlation to parity or duration of breast-feeding.

Adolescent↗
PubMedDate not supplied

Influence of dietary (n-3)-polyunsaturated fatty acids on leukotriene B4 and prostaglandin E2 synthesis and course of experimental tuberculosis in guinea pigs.

In the present study eicosanoid synthesis was studied in macrophages of guinea pigs fed different amounts of (n-6)- and (n-3)-polyunsaturated fatty acids (PUFA). Three groups of weanling guinea pigs were fed by isocaloric diets differing only in their contents of PUFA: controls with 2.8 Cal% of linoleic acid (LA; 18:2(n-6)); (n-6)-rich fed animals with 15.4 Cal% of LA; and (n-3)-rich fed animals with 10.1 Cal% of LA, 1.4 Cal% of eicosapentaenoic acid (20:5(n-3)) and docosahexaenoic acid (22:6(n-3)). After 13 weeks half the number of animals from each group was infected i.m. by 180 colony forming units of Mycobacterium tuberculosis strain H37Rv. Seven weeks after infection the release of leukotriene (LT)B4 and prostaglandin (PG)E2 was quantified in calcium ionophore stimulated whole blood, peritoneal macrophage cultures and alveolar macrophages by immunoassays after high performance liquid chromatography. Synthesis of LTB4 and PGE2 was found to be reduced in (n-3)-rich fed guinea pigs (p < 0.05), and equivalent between controls and (n-6)-rich fed animals. Controls and (n-6)-rich fed animals showed the same mycobacterial counts in the spleen whereas (n-3)-rich fed guinea pigs demonstrated an increased number of mycobacteria (p < 0.05). Our results demonstrate that an increased dietary intake of (n-3)-PUFA suppress LTB4 and PGE2 synthesis. The increased number of M. tuberculosis found in the spleens of (n-3)-rich fed animals could represent persistence of the experimental infection. It may be speculated that a functional relationship exists between the two findings.

Animals↗
PubMedDate not supplied

Long-term L-carnitine treatment in isovaleric acidemia.

A 5-year-old girl with isovaleric acidemia was treated with long-term L-carnitine and no supplemental glycine. Clinical and laboratory data are presented. Following diagnosis and treatment at age 2 years, the frequency of acute exacerbations of metabolic acidosis was reduced and she resumed normal growth and development. L-carnitine supplementation and protein restriction may be sufficient for effective therapy of isovaleric acidemia.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Carnitine deficiency associated with ornithine transcarbamylase deficiency.

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.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

[Fabry disease--a provocation for pediatrics].

Fabry disease is an inherited metabolic disease caused by the deficiency of the lysosomal enzyme alpha-Galactosidase A. In consequence, globotriaosylceramide (Gb3) accumulates in nearly all tissues and body fluids. Typically, the disease manifestation is in childhood with acroparaesthesia of burning character in hands and feet. Angioceratoma, cornea verticillata and proteinuria may be found as well at an early stage of the disease. With ongoing age vital organs are increasingly affected. Major causes for death are cerebrovascular events, myocardial infarction, and progressive renal insufficiency. Enzyme replacement therapy (ERT) offers an efficient treatment of Fabry disease. On the basis of newly diagnosed patients we describe the clinical picture, diagnosis and principles of ERT.

Adolescent↗
PubMedDate not supplied

Antiepileptic treatment in paediatric oncology--an interdisciplinary challenge.

Epileptic seizures are a common and clinically relevant problem in paediatric oncology. Attributable to the heterogeneity of this group of patients and a number of possible comorbidities antiepileptic treatment in paediatric oncology poses a number of diagnostic and therapeutic challenges. This requires a close interdisciplinary approach to the seizing child or adolescent. A prompt and detailed diagnostic work-up is needed in every case in order to establish the diagnosis and, equally important, to detect secondary aetiological factors, e. g. epileptogenic drugs or any acute underlying pathology, such as metabolic or toxic encephalopathies, CNS-infections or cerebrovascular events. This might offer the opportunity for a specific causative treatment and thus prevent unnecessary long-term antiepileptic drug (AED) treatment. If AED treatment is initiated several aspects have to be taken into account. Most importantly, AEDs and chemotherapeutic drugs (CTDs) may interact. Depending on the comedication this may result in reduced tumour or seizure control or unexpected toxicity of AEDs or CTDs. Understanding these interactions will allow to anticipate clinically relevant adverse effects. AED may be further complicated by side-effects, some of them of particular concern for children or adolescents, such as cognitive effects, myelotoxicity, serious rashes, endocrinological disturbances, and many more. Beside critically questioning the need for AED treatment it is therefore important to prefer AED with a good safety-profile in this population. Enzyme-inducing and inhibiting AED should be avoided if possible. Preliminary studies indicate that gabapentin and levetiracetam may provide good options in terms of efficacy and safety. However, more properly designed clinical studies are warranted to raise the level of evidence for robust clinical recommendations. Until that time, clinicians will need to continue to question current policies and adapt their daily practice to evolving scientific data.

Adolescent↗