INTRAUTERINE

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Background and Aims
Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalaninhydroxylase.It is treated with a lowprotein diet containing a low content of phenylalanine to prevent mental affection of the patient.The objective of the present study was to assess the compliance of our phenylketonuric (PKU) and hyperphenylalaninemic (HPA) patients; to determine the concentration of serum pre-albumin and trace elements to discover the potential correlation between the amount of proteins in food and their metabolic control.Methods The prospective study contained altogether 174 patients, of which 113 were children, 60 with PKU and 53 with HPA and 61 were adults, 51 with PKU and 10 with HPA.

Results
We did not prove a statistically significant difference in the levels of serum pre-albumin, zinc and iron among the respective groups.We proved statistically significant difference in the level of serum selenium among PKU and HPA patients in adulthood (p=0.006,Mann-Whitney U test).

Conclusion
The therapeutic restrictive diet for PKU and HPA makes the patient liable to the risk of nutritional deficit.

UREA CYCLE DEFECTS-MISDIAGNOSES AND WRONG DIAGNOSES
doi:10.1136/archdischild-2012-302724.1038 S Abed.Pediatrics, Naser Pediatric Hospital, Gaza, Palestinian Authority Background Urea cycle defects (UCD) constitute a group of rare metabolic disorders that involve the enzymes of every step of urea cycle.Deficiency of one of these enzymes leads to hyperammonemia and they present classically with acute life-threatening neonatal encephalopathy.However, presentation at later childhood or adulthood could also occur.There are many disorders that mimic UCD causing misdiagnosis or wrong diagnosis.Methods A prospective and retrospective study was made on 10 cases of UCD.Most have been diagnosed at the neonatal period with follow up done through our genetic and metabolic clinic at Naser Pediatric Hospital.Results Most of the cases presented with acute ammonia encephalopathy.Age of presentation was variable.Most of the cases were from the Northern Gaza which is of geographical similarity to distribution of the IEM collectively .There was no gender differences.Background and Aim An international disease registry was started in September 2009 to evaluate the long-term disease course of NP-C in clinical settings.Methods Descriptive data from enrolment are presented for all patients with available data who were included in the Registry as of 19 th August 2011.Results 121 patients have been enrolled.The median (range) age at enrolment was 16.9 (0.9−56.6) years, age at onset of neurological manifestations was 8.2 (< 1−48.0) years (n=100), and age at diagnosis was 11.8 (0.1−53.9) years (n=110).A history of neonatal jaundice was recorded in 4/4 evaluable patients with early-infantile (EI) onset of neurological manifestations (at age < 2 years; n=9), 6/21 (29%) with late-infantile (LI) onset (at 2 to < 6 years; n=31), 6/21 (29%) with juvenile (JUV) onset (at 6 to < 15 years; n=31), and 3/20 (15%) with adolescent/adult (AA) onset (at ≥ 15 years; n=29).Miglustat therapy at enrolment was recorded in 88/121 (73%) patients; mean (SD) exposure 1.69 (1.85) years (n=86).Neurological manifestations were observed in 71/84 (85%) patients: ataxia (71%), vertical gaze palsy (68%) and dysarthria (62%) were most frequent.Median (range) disability scores (0=normal; 1=worst) were: 0.0 (0.0-0.94) in EI (n=7), 0.29 (0.0-1.0) in LI (n=28), 0.41 (0.15-0.88) in JUV (n=28), and 0.29 (0.06-0.81) in AA-onset patients (n=26).A low proportion of patients had normal language, manipulation, ambulation, and/or swallowing.Conclusions Over two-thirds of this NP-C cohort had infantile or juvenile onset of neurological manifestations; neonatal jaundice was observed more frequently in these patients versus adolescent/ adult-onset patients.Background and Aim GRACILE syndrome, a neonatal, autosomally recessive disorder found in Finland, featuring growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death, is caused by a homozygous mutation (S78G) in BCS1L, the assembly factor for respiratory chain complex III.We investigated a newborn Turkish girl with similar symptoms.Her two sisters with low birth weight, metabolic acidosis, cholestasis and renal Fanconi syndrome, had died at 18 and 105 days age, respectively.

Methods and results
The girl was born to healthy nonconsanguineous parents.She was growth retarded (1789 g at term), developed tachypnea and metabolic acidosis on day one.Lactic acidosis, jaundice with direct hyperbilirubinemia, nonspecific aminoaciduria, high phosphaturia, proteinuria and glucosuria were detected.Serum

PERFUSION INDEX ASSESSMENT IN NEWBORNS WITH TACHYPNEA
doi:10.1136/archdischild-2012-302724.1041 S Unal, N Altuntas, S Beken, F Kulalı, E Kazancı, IM Hirfanog ˘lu, C Türkyılmaz, EE Önal, E Koç, Y Atalay, E Ergenekon.Neonatology, Gazi University Hospital, Ankara, Turkey Background and Aim Tachypnea of newborn is a frequent respiratory problem which may be due to several causes.Perfusion index (PI) is a way of monitoring of peripheral perfusion noninvasively.The aim of this study was to compare PI of newborns with and without tachypnea within the 1st hour of life.Methods Neonates born at gestational age >36 weeks with C/S were monitored with Masimo Set Radical 7 pulse-oximeter postductally.PI and oxygen saturation (SaO2) values, respiratory rates (RR), temperature and heart rate were manually recorded every ten seconds during first 3 minutes after the newborn was taken to the transition area (baseline) and at the 60 minutes of life.Results Study included 30 tachypneic neonates 7 of which were admitted for transient tacypnea of newborn (TTNB) and 24 neonates with normal respiratory rates (controls).Birth weight of 30 tachypneic newborns were higher than controls p<0.01 whereas GA were similar.None of the neonates had risk for sepsis and all had capillary refill time < 3 sec.PI values were similar between groups both at baseline and at 1 hour (median and range; controls: 1.52(0.68-3.05),tachypnea:1.38(0.68-3.07),TTNB: 1.2 (1.02-1.60)at baseline and controls: 1.23 (0.66-2.84), tachypnea: 1.42 (0.65-3.40),TTNB: 1.22 (1.03-2.08)at 1 hour.Only RR values were significantly different between groups.Conclusion Low PI may be associated with various pathological conditions.The results of this study suggests that if the newborn has only transient tachypnea the PI remains normal which might be helpful for the clinician to decide about management.

INCREASED PLASMA AND URINE NITRIC OXIDE LEVEL IN INTRAUTERINE GROWTH RESTRICTED LATE PRETERM INFANTS
doi:10.1136/archdischild-2012-302724.1042 1 S Huseynova, 1 S Alasgarova, 1 S Mukhtarova, 2 S Ali-Zade. 1 Neonatology, Azerbaijan Medical University; 2 Pediatry, Odlar Yurdu, Baku, Azerbaijan Background and Aims Nitric oxide (NO) is a vasodilator produced from different groups of nitric oxide synthases and plays an important role in regulation of vascular tone and blood flow in different organs.The aim of this study is to determine the connection 1041 1042 Consanguinity and family history were positive in almost all of the cases.For means of diagnosis, referral was done for aminoacid profile.outcome of the cases varied from early neonatal death to normalcy through later childhood.

Conclusion and recommendations
The high consanguinity rate in our country makes IEM not uncommon problem.Estimation the overall incidence of IEM in general and UCD in particular is needed.Further studies are needed to explain the higher incidence in Northern Gaza.Lack of metabolic specialist and metabolic laboratory necessitates referral of cases which has many problematic issues.We need to have metabolic specialist and genetist as well as our own metabolic and genetic lab in Gaza strip.Results A total of 241 newborns (196 term, 45 preterm) were included in the study.The average gestation age of all newborns was 38.4±2.0 weeks and birth weight was 3204±566 grams.According to the analysis of repeated measurements of term and preterm groups within the first 5 days, PI values of right hand and foot did not vary.However, right hand PI values were significantly higher than foot PI values (p<0.001).During the first 3 days, both the right hand and foot PI median values of term newborns were significantly higher than preterm newborns (p<0.001)whereas on the fifth day, difference was disappeared (right hand; p=0.10, foot; p=0.45).

Conclusion
The peripheral perfusion of stable newborns did not vary significantly during the first five days.It was considered, higher PI value of term newborns compared to preterm newborns, is the result of early adaptation in the microvascular blood flow.PI values obtained from stable newborns may be guiding for further studies planned on various diseases associated with impaired perfusion.
, 2023 by guest.Protected by copyright.http://adc.bmj.com/Arch Dis Child: first published as 10.1136/archdischild-2012-302724.1038 on 1 October 2012.Downloaded from DURING THE EARLY NEONATAL PERIOD doi:10.1136/archdischild-2012-302724.1039N Hakan, D Dilli, A Zencirog ˘lu, N Okumus ¸, BS Karagöl, A Dursun, N Karadag ˘, S Beken, B Aydın, S Erol.Dr Sami Ulus Maternity, Childrens Education and Research Hospital, Division of Neonatology, Ankara, Turkey Background and Aims The perfusion index (PI); is an easy, noninvasive technique for the assessment of peripheral perfusion.The aim of this study was to determine the peripheral PI reference values and PI variability of clinically and hemodynamically stable newborns during the first five days.Method Pre-(right hand) and postductal (foot) PI values were recorded on the sixth hours, first, second, third and fifth day of 241 newborns life with the new generation pulse oximeter [MASIMO Rad 7 Oximeter, USA].