OBJECTIVE To report the patterns and causes of neonatal death from a tertiary care neonatal intensive care unit over a period of four years. METHODS This is a retrospective cohort study where four years data (January 2006 - December 2009) of all inborn neonatal admissions and deaths were collected from the neonatal intensive care unit at Sultan Qaboos University hospital on predesigned forms....

BACKGROUND In Myanmar, approximately half of all neonatal hospital admissions are for hyperbilirubinaemia, and tertiary facilities report high rates of Exchange Transfusion (ET). The aim of this study was to evaluate the effectiveness of the pilot program in reducing ET, separately of inborn and outborn neonates. METHODS The study was conducted in the Neonatal Care Units of four national tert...

background: h-reflex is a valuable electrophysiological technique for assessing nerve conduction through entire length of afferent and efferent pathways, especially nerve roots and proximal segments of peripheral nerves. the aim of this study was to investigate the relation between normal values of flexor carpi radialis (fcr) h-reflex latency, upper limb length and age in normal subjects, and t...

West syndrome (infantile spasms) is an epileptic encephalopathy that includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. More than 25 inborn errors of metabolism have been considered etiologic or predisposing factors for infantile spasms. This is a review of the literature on reported cases of children diagnosed with a metabolic disease w...

12 month period between 1st October 2006 and 30th September 2007. 2872 of these were inborn and were considered for calculating the hospital based incidence of CH. TSH values were ≥10 mU/L in 106 infants. Serum T4 and TSH assay confirmed neonatal hypothyroidism in 6 of them. All of them were inborn infants. The study revealed congenital hypothyroidism incidence of 2.1 per 1000 (6/2872) amongst ...

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).

Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve communication. In 2010 the Dutch Society for Children and Adults with an Inborn Error of Metabolism (VKS) initiated development of clinical pathwa...

introduction biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. we report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. with a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. rapid treatment was life-savin...

Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling us to take decisions on the screening and clinical diagnosis of a patient. Settings and Design: A non-incremental concept learning classificati...