Evaluation of the newborn screening program for congenital hypothyroidism in Alexandria 2000-2003

The Newborn Screening Program for Congenital Hypothyroidism started in Alexandria in October 2000. The aim of this study was to evaluate the program in terms of coverage, performance of providers, effectiveness of detecting cases and knowledge of mothers about newborn screening. The computer data base in Alexandria Health Directorate were reviewed from October 2000 to December 2003.A structured interview questionnaire with mothers [during their infants' BCG vaccination] to test their orientation and knowledge about newborn screening. An observation checklist was used to assess nurses' performance during sample collection. Records of the pediatric clinic [where positive cases were treated] were reviewed for screening results Focus group discussions were conducted with health care providers. The mean percentage of coverage was 63.58% with 268747 live births and 170881 screened infants. The total positive cases were 70 with 43 true. positive cases. The positive predictive value in the 3 years was 61.4%, and the incidence of primary [CH] among screened infants was 1:3974. False positive rate among screened infants was 0.016%. 40.5% of mothers had good knowledge about newborn screening. The Knowledge of primary health care physicians about the screening program was good but most of them felt that they were not involved in the program. The knowledge of nurses about [CH] was not satisfactory; their attitude towards infection control measures was not good. The screening program of [CH] in Alexandria has been established and became a routine part of primary health care activities, the screening of other diseases rather than [CH] should follow. Efforts are needed to improve different aspects of the program

Chediak-Higashi syndrome in Bedouin sibs

The first Bedouin patient with Chediak-Higashi Syndrome [CHS] [MIM 214500] have been ascertained and followed up in the Jahra Regional Liaison Community Genetic Programme. The proband is an 11 year old boy presented with partial oculo-cutaneous albinism and recurrent pyogenic infections. Blood smear showed pathognomonic intracytoplasmic giant granules. Skin and hair shaft examination revealed irregular melanin clumps. A partial clinical response have been noticed with high doses of ascorbic acid, however, bone marrow transplant was advised before developing the accelerated phase of the disease