Upper limb ischemia presenting in neonatal period is extremely rare. Moreover, presenting newborn with evidence of intrauterine upper limb vascular occlusion is even rarer. It needs prompt intervention to restore perfusion and avoid morbidity. We present a newborn with right upper limb brachial artery thrombosis causing ischemia that was noted at birth and appeared later to be homozygous for factor V Leiden and glycoprotein IIIa with no other identifiable risk factors. In this report, we present the case, its successful medical management, proper counseling, and review of the literature. We recommend investigating the neonates and their parents for thrombophilia mutations when they present with unusual vascular occlusion site as newborns.

We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential for mitochondrial function, phospholipid remodeling, and intracellular cholesterol trafficking. We identified a novel homozygous mutation in SERAC1 gene (c.1018delT) that generates frame shift and premature termination of protein translation. Plasma and cerebrospinal fluid lactate, plasma alanine, and respiratory chain complexes in fresh muscle were normal. This report further expands the genetic spectrum of MEGDEL syndrome and adds to the evidence that it is associated with variable patterns of respiratory chain abnormalities.

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in other Finnish University Hospitals (Helsinki, K uopio, Tampere, Turku). DNA samples were genotyped using the Illumina HumanCoreExome BeadChip consisting of approximately 550,000 single-nucleotide polymorphisms (SNPs); after quality control, 60 cases (moderate-severe BPD) and 114 controls (no or mild BPD) remained for a genome-wide association study (GWAS). In the next step, approximately 200 SNPs showing suggestive signals are genotyped in additional infants (n = 116/232) to determine which associations are replicated. Results In GWAS, we detected suggestive association signals (p < 1 -4 ) for several SNPs; many of these SNPs were located within or near genes that can be considered as plausible candidate genes for BPD (e.g. the CRP and PTPN6 genes encoding C-reactive protein and protein-tyrosine phosphatase SHP-1, respectively). Some of the SNPs showing suggestive associations in two previous GWASs of BPD showed weak associations (e.g. those within the PALM2 and CTNNA3 genes). Conclusions In genome-wide association study of BPD, we detected several suggestive associations. These initial results require verification in subsequent studies, including replication in additional populations and functional studies of the arising candidate genes. PO-0745 CONGENITAL DIAPHRAGMATIC HERNIA IN NEONATES-FIRST TIME ASSESSMENT OF OUTCOME AMONG PALESTINIAN BABIES Objectives To review our NICU and surgical experience of all cases of CDH that was admitted to our hospital in last 10 years. To identify the risk factors for morbidity and mortality. Setup Makassed Charitable Hospital, main tertiary hospital for Palestinian Territories (West Bank, Gaza and East Jerusalem). Material and methods Retrospective Review of all cases of CDH admitted to our NICU between January 2003 and December 2013. Data about: Antenatal diagnosis, gestational age, birth weight, Apgar score, Blood gas at delivery, time of surgery, finding at surgery, ventilation days, mortality outcome and several other items were recorded and analysed. Primary outcome was: mortality, total days of ventilation and total days of Oxygen requirement. Results Thirty three (n = 33) cases of CDH were reviewed. Twenty two cases were inborn (67%). Mortality was 10 cases (30%). Twenty three cases were discharged home alive and off oxygen therapy (70%). Better survival rate after 2009 (77% Vs 63%) this could be due to gentle ventilation strategies, better use of antenatal ultrasound for diagnosis. Lower mortality and less ventilation days were significantly associated with lower initial PaCO2 (p < 0.001) and higher PH (p < 0.001) and higher Gestational age (P 0.05). Presence of liver and/or spleen as part of hernia contents correlates negatively with the primary outcome (p < 0.05). Conclusion This is the first study that outlines the mortality and morbidity and their risk factors in Palestinian Territories with no ECMO is used demonstrating fairly good outcome with gentle ventilation strategies and antenatal diagnosis. Background and aims After c-section term newborns are at risk o...