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Biomedical subjects

M Nester

Publications and source records attributed to M Nester.

8 recordsLinked to original sources
PubMed2001

Relationships between blood lead concentrations, intelligence, and academic achievement of Saudi Arabian schoolgirls.

This cross-sectional study examined the association between blood lead levels and neuropsychological and behavioural problems of 533 schoolgirls (6-12 years of age) who attended public schools in Riyadh, Capital of Saudi Arabia. Regression models were used to determine the best predictors of Beery VMI Saudi-based standard scores, TONI Saudi-based scores and rank percentile. The mean blood lead level was 8.11 +/- 3.50 micrograms/dl in the range of 2.3 to 27.36 micrograms/dl. Significant negative associations were noted between blood lead levels and Beery VMI Saudi-based standard scores as well as rank percentile. Lead had no effect on TONI Saudi-based standard scores. Beery VMI Saudi-based standard scores, TONI Saudi-based standard scores and rank percentiles were inversely related to pupils with blood lead levels > 9 micrograms/dl. These findings attest an association between neuropsychological and behavioural impairment and lead exposure at blood lead levels in the range of 9.02 to 27.36 micrograms/dl. The results of this study should be seriously considered by public health authorities to give more attention to this pediatric health problem.

Child↗
PubMed1994

3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.

3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We report four new patients all with significant neurological symptoms. Three patients were examined with MRI of the brain which showed increased T2 intensity within the posterior lateral part of the putamen bilaterally. In two the MRI was otherwise normal; in one delayed myelination was also seen. These MRI putaminal findings may be typical enough to suggest the diagnosis of 3KTD. Two of the three had abnormal EEGs; one had an abnormal VEP. 3KTD can thus occur as an organic acidemia associated with encephalopathy.

Acetyl-CoA C-Acyltransferase↗
PubMed1994

4-Hydroxybutyric aciduria.

The clinical findings in six patients from three families with 4-hydroxybutyric aciduria are described. The onset of disease was in early infancy in all cases. All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atrophy in two patients, and retinitis pigmentosa in one. Three patients had choreoathetosis, two had myoclonus and one had severe dystonia. The urine 4-hydroxybutyric acid was 300-1000 times that of normal, and other organic acids related to its further metabolism or to its inhibitory effect on beta-oxidation were also increased. The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal. However, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.

Adult↗
PubMed1992

Saudi variant of multiple sulfatase deficiency.

We describe eight patients with multiple sulfatase deficiency (MSD, or Austin's disease) who differ phenotypically from classic neonatal-, childhood-, or juvenile-onset MSD. The age of onset was in childhood. The patients presented with somatic and facial features of mucopolysaccharidosis reminiscent of Maroteaux-Lamy and Morquio syndromes. They differed from classic MSD by the presence of corneal cloudiness, macrocephaly, severe dysostosis multiplex, and gibbus and the absence of ichthyosis, retinal degeneration, severe deafness, severe mental retardation, and dementia. The main neurologic presentation was cervical cord compression due to axis abnormalities. Despite neuroradiologic evidence of white-matter changes, neurologic presentation was not like metachromatic leukodystrophy. The sulfatase deficiencies were more marked than in the classic juvenile form of MSD, but less marked than in the classic childhood-onset form of MSD. Steroid sulfatase activity was spared except in one patient. This Saudi variant of MSD accounts for 5% of all lysosomal storage diseases in the Cell Repository Registry of our Inborn Errors of Metabolism Laboratory.

Child↗
PubMed1991

Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase.

We describe the clinical, neurologic, and biochemical findings in 10 patients with 6-pyruvoyl tetrahydropterin synthase (6-PTS) deficiency from seven families, all of whom originate from one large tribe in Saudi Arabia. This deficiency presents with severe, early onset of failure to thrive, neurologic deterioration, and morbidity and mortality secondary to repeated episodes of bronchopneumonia or cardiorespiratory abnormalities. The urinary pterin excretion pattern indicates deficient activity of 6-PTS, which has been confirmed by direct enzyme assay in red blood cells of three patients. We treated our patients with combined use of tetrahydrobiopterin 20 mg/kg/d, L-dihydroxyphenylalanine 15 mg/kg/d, carbidopa 3.75 mg/kg/d, and L-5-hydroxytryptophan 5 mg/kg/d. Neurologic findings improved significantly in all after 5 to 24 months. Although head circumference and weight returned to the lower limit of normal in four, height normalized only in one of seven patients. Despite an unrestricted diet during combined therapy, blood phenylalanine and urinary excretion of neopterin and biopterin returned to normal.

Alcohol Oxidoreductases↗
PubMedDate not supplied

Combined oral isoprinosine-intraventricular alpha-interferon therapy for subacute sclerosing panencephalitis.

Eighteen patients, 16 boys and 2 girls, aged 5-14 years, with subacute sclerosing panencephalitis (SSPE) were treated with oral isoprinosine (100 mg/kg/day) and intraventricular alpha-interferon 2b (Intron A, Schering Corp.), starting at 500,000 U twice a week and later increasing to 3 million U biweekly. Minimal follow-up of living patients is 12 months; maximal 40 months. On the basis of the Neurological Disability Index (NDI) scores and staging, 8 have treatment-induced remissions (3 improved, 5 arrested), 4 are worse and 6 died. This 44% (8/18) rate of remission/improvement compares well with the 9% (1/11) remission in historical controls in the same institution (p = < 0.05) and 5% spontaneous remission in the literature. Combined oral isoprinosine-intraventricular alpha-interferon appears to be an effective treatment for SSPE.

Administration, Oral↗
PubMedDate not supplied

Determinants of blood lead levels in Saudi Arabian schoolgirls.

Blood lead levels were measured in 538 girls aged 6 to 12 years who attended primary public schools in Riyadh, Saudi Arabia. Of the 538 screened children, 24.4% had blood lead levels > or =10 microg/dL, the Centers for Disease Control's level of concern. Variation in the blood lead levels was investigated with respect to a number of risk factors. The main determinant of blood lead levels was the regional location of the school. Pupils who attended schools located in the Central region of Riyadh had significantly higher blood lead concentrations than did pupils who attended schools in the peripheral areas. This is most likely to be due to the heavy vehicular emissions in the Central region. Other variables such as low family income, grade, and application of kohl to the child's eyes and/or umbilicus at birth were also contributors to the blood lead levels. These observations emphasize the importance of health education programs to promote the reduction of lead exposure in the general population.

Child↗