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1.
Alexandria Journal of Pediatrics. 2009; 23 (2): 19-22
in English | IMEMR | ID: emr-145774

ABSTRACT

Human severe combined immunodeficiency [SCID] represents a group of rare, often fatal, congenital disorders characterized by little or no immune response. Reticular dysgenesis [RD] is the most severe form of inborn SCID. Until recently, its genetic basis was unknown. It is only in 2008, that a gene defect has been described. We present here, a unique hematological phenotype of RD with a dramatic clinical course. The paucity of such cases in the literature, merits this report


Subject(s)
Humans , Male , Adenylate Kinase/deficiency , Adenylate Kinase/genetics , Phenotype , Consanguinity
2.
Alexandria Journal of Pediatrics. 2004; 18 (1): 1-5
in English | IMEMR | ID: emr-201121

ABSTRACT

The aim of this study is to evaluate the incidence of neonatal mortality rate [NMR] and causes leading to neonatal deaths in this center. It is the first reported detailed study of neonatal vital statistics in Kuwait. Both prospective and retrospective procedures for data collection were used to assess the neonatal mortality for 5545 live births in Adan Hospital during the period from first of January 1999 till end of December 1999. The results showed that of a total 5545 live births enrolled in this study, the overall neonatal mortality was 6.49 per 1000 live births. The main causes of neonatal deaths were congenital anomalies, preterm birth related problems and hypoxic ischemic encephalopathy. These causes accounted for around 94% of all neonatal deaths. Around 55.6% of the deaths were considered preventable


Conclusion: identification of suboptimal care and the avoidable factors based on agreed set of standards seems to be valuable in improving the quality of medical care and reducing the neonatal mortality

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