Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypothyroidism?

OBJECTIVE: To assess the performance of the use of umbilical cord blood for screening of primary congenital hypothyroidism in the Saudi Aramco Medical Services Organization newborn thyroid screening programme. METHODS: Umbilical cord blood total thyroxin (CB-TT4) was measured. In samples with low T4 concentrations, an additional measurement of cord blood thyroid-stimulating hormone was made. RESULTS: A total of 96,015 newborn infants were screened in the period January 1990-December 2007. Twenty-six cases of primary congenital hypothyroidism, six cases of transient hypothyroidism and 13 cases of central hypothyroidism were detected. This method of screening resulted in 100% sensitivity and 98% specificity (95% CI 84-100, and 95% CI 98-98.2, respectively). However, there was a high mean recall rate of 1.9%. CONCLUSION: The use of CB-TT4 is a valid screening strategy for primary congenital hypothyroidism. It meets the metabolic screening demands of early discharge policy and guarantees screening all newborns delivered in the hospital.

Mesenteric panniculitis of the sigmoid colon.

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Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

More than 600 different CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations have been identified so far that are considered to cause the fatal genetic disorder cystic fibrosis (CF). We have investigated 15 Arab children from 12 families, who were diagnosed as having CF, for mutations in the coding region and in the flanking intron sequences of the CFTR gene. Six different CFTR mutations were identified including two novel mutations, 1548delG in exon 10 and 406-2A-->G in intron 3. Prominent mutations were the splice mutation 3120 + 1G-->A (intron 16) followed by N1303K (exon 21) and 1548delG (exon 10). Most CF children were homozygotes who presented with a severe form of the disease including failure to thrive, recurrent chest infections, particularly with Pseudomonas aeruginosa, and frequent hospital admissions. Identification of the CFTR mutations facilitates molecular investigation of the disease and better understanding of its pathophysiology in Arab children, among whom CF is probably an underdiagnosed disease.

Rotavirus as an important cause of diarrhoea in a hospital for children in Dammam, Saudi Arabia.

A major cause of morbidity and mortality among children in developing countries is acute diarrhoea and rotavirus, a reovirus-like agent, is found to be a leading causative agent. We report here the incidence of rotavirus infection among infants and young children with gastro-enteritis treated at the Children's Hospital in Dammam, Kingdom of Saudi Arabia. One hundred and fifty children, aged between 1 and 60 months, suffering from diarrhoeal illness, were selected as the study cohort; another 150 hospitalized children of the same age group, but not suffering from diarrhoea, served as controls. Sixty-two per cent of the study children complained of watery diarrhoea and 39% of vomiting; all had mild to moderate dehydration. Seventy-two per cent had fever and 30% associated respiratory illness. Worst affected were those 7-12 months old, among whom rotavirus was detected by ELISA techniques in 39.6%, compared with 7.5% of the control children of comparable age group. We could not detect any rotavirus from control children aged over 36 months, whereas approximately 15% of the study children in this age group yielded rotavirus from the stool. The second most common pathogen isolated was Shigella ssp. It was isolated from 18.7% of children under study as against 3% of the controls.