Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.

In this study we examined the deletion of the SMN and NAIP genes in 14 Saudi families (16 patients and 38 relatives of the patients, including parents and siblings) and six healthy Saudi volunteers. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene and exon 5 of the NAIP gene were found in seven out of eight spinal muscular atrophy (SMA) type-I patients. In seven SMA type-II patients, exons 7 and 8 of telomeric SMN were deleted in six cases and exon 5 of NAIP was deleted in three cases.

Neonatal jaundice in Saudi newborns with G6PD Aures.

Sixty-five of 3261 (2%) Saudi neonates were found to be severely G6PD-deficient during a cord blood screening programme conducted from April to December, 1992. However, at the time of molecular studies, the blood samples were available from only 20 randomly selected children, aged from 1 to 6 years. DNA analyses showed that seven (three boys, four girls) of these 20 (35%) had G6PD Aures (nt 143 T - > C), a variant associated with favism which was recently reported in an Algerian.

Stroke in children: a study of 21 cases from Saudi Arabia.

Twenty-one cases of stroke were observed in children aged between 4 months and 15 years attending two large hospitals in Saudi Arabia over a 10-year period. The number constitutes two per cent of all cases of stroke managed in these hospitals during that period. Eleven cases were associated with cerebral arterial infarction, nine with cerebral haemorrhage and one with venous infarction.

Endocrine function and haemoglobinopathies: biochemical assessment of thyroid function in children with sickle-cell disease.

Thyroid function was assessed in ninety children with homozygous sickle-cell disease (haemoglobin genotype SS) in forty-five children with heterozygous sickle-cell trait (AS) and in 162 control children with haemoglobin genotype AA. Serum levels of thyroxine, the in vitro triiodothyronine resin uptake and the calculated index of 'free thyroxine' were not significantly different in the three groups. The distribution of individual thyrotropin (TSH) values showed that only 11% of the HbSS subjects had values below the 95% confidence limits for the HbAA controls.

Erythrocyte protoporphyrin in screening for iron deficiency anaemia among children in Nigeria.

Erythrocyte protoporphyrin (EPP) concentration was determined in 87 children who presented at the Adeoyo General Hospital and the University Teaching Hospital (Ibadan, Nigeria) for various ailments. Presence or absence of anaemia was based on haemoglobin concentration. There was a significant difference (p less than 0.