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Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism

considered rare, and the most severe form is the early infantile form [ 1 , 2 , 3 , 4 ]. We herein report a new novel homozygous mutation for the cathepsin A ( CTSA ) gene in a Turkish newborn with galactosialidosis and transient hyperparathyroidism. Case Report The female newborn was born at term, by cesarean section because of fetal bradycardia, as the first child of healthy consanguineous parents, with a birth weight of 3050 g (50 percentile) a length of 50 cm (50-75 percentile) and a head circumference of 36 cm (90 percentile). Their first pregnancy had ended

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First Results From Expanded Newborn Screening in slovak Republic

References [1] Burgard P, Rupp K, Lindner M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hofmann GF. Newborn screening programmes in Europe; arguments and eforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis. 2012;35: 613-25. [2] Dluholucký S, Knapková M, Záhorcová M. Newborn screening in Slovakia - from 1985 till today. Acta Fac Pharm Univ Comen 2013, Suppl.VIII:32-36 Available at

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Splanchnic Circulation in Small for Date Newborns

, Damania KR. Abnormal Doppler flow velocimetry in the growth restricted foetus as a predictor for necrotizing enterocolitis. JPGM 2002; 48 (3): 182 - 185. 31. Baschat AA, Gembruch U, Reiss I, Gortner L, Weiner CP, Harman CR. Relationship between arterial and venous Doppler and perinatal outcome in fetal growth restriction. Ultrasound Obsted Gynecol 2000; 16: 407 - 413. 32. Reber KM, Nankervis CA, Nowicki PT. Newborn intestinal circulation: physiology and pathophysiology. Clin Perinatol 2002; 29: 23 - 39.

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Stress level and health locus of control in parents of hospitalized newborns – preliminary report

– Rybska D, Zdun–Ryżewska A, Zach E. Stres psychologiczny i czynniki na niego wpływające u opiekuna dziecka krótkotrwale hospitalizowanego. [Psychological stress and its causes for caregives of children hospitalized for short time]. Pediatr. Med. Rodz. 2012; 8 (3): 268-271. 7. Palma EI, Von Wussow FK, Morales IB, et al. Stress in parents of newborns hospitalized in a neonatal intensive care unit. Rev. Chil. Pediatr. 2017; 88 (3): 332-339. 8. Jopek A, Gadzinowska-Szczucińska J, Szczapa T. Ocena percepcji stresu odczuwanego przez rodziców dzieci

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Determinants of Heart Rate in Newborns

healthy newborn infants. Am J Cardiol 2002; 89:50-53. Kantor L, Javorka K. Jakou variabilitu srdeční frekvence mají zdraví novorozenci? Proceedings: Variabilita srdeční frekvence a její hodnocení v biomedicínskych oborech - od teorie ke klinické praxi. Olomouc, 2003. p. 30-34. Lehotska Z, Javorka K, Javorka M, Zibolen M, Luptakova A. Heart rate variability in small-for-age newborns during first days of life. Acta Med Mart 2007; 7: 10-16. Yang TF, Kao NT, Chan RC, Kuo TBJ, Chen AJ. Power

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Newborn Screening for Thyroid-stimulating Hormone as an Indicator for Assessment of Iodine Status in the Republic of Macedonia

. Macedonia begins to monitor IDD in pregnant and lactating women along with school-age children. IDD Newsletter August 2009; 33(3): 17–9. 11. Soini E, Kojola H. Time-resolved fluorometer for lanthanide chelates – a new generation of nonisotopic immunoassays. Clin Chem 1983; 29(1): 65–8. 12. Kocova M, Anastasovska V, Sukarova-Angelovska E, Tanaskoska M, Taseva E. Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia–a multiethnic country. Europ J Pediatr 2015; 174(4): 443–8. 13. Costante G, Grasso L

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The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital

Macedonian. 23. Fontaine CH. Some thoughts about anatomic variations. Surg Radiol Anat. 2001;23: 1-2. 24. Marden PM, Smith DW, MC Donald MJ. Congenital anomalies in the newborn infant, including minor variants. J Paediatrics. 1964; 64: 357-371. 25. Stevenson RE, Hall JG. Terminology. Vol I. In: Stevenson RE, Hall JG and Goodman RM (eds). Human malformations and related anomalies. Oxford University Press: London, 1993; pp 21-30. 26. Mehes K, Stadler G. Minor malformations in the neonate.Akadémiai Kiadó

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Newborn Screening in Slovakia – From 1985 Till Today / Novorodencký skríning na Slovensku – od roku 1985 doposiaľ

of monozygotic twins: Comparison of their long-term psychosomatic development. Neuroendocrinology Letters, 2006; 27( 1-2):203-208. Knapková M., Dluholucký S. Safe Cut-Off level in newborn screening for congenital hypothyroidism in Slovakia. J Inherited Metab Dis. 2011; 34 ( Suppl 2, P1): S26. Knapková M., Dluholucký S. Newborn screening of cystic fibrosis in Slovakia. Československá pediatrie, 2011; 66( 10): 41-42. [in Slovak]. Dluholucký S., Knapková M. Analysis of secular increase of congenital hypothyroidism in

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Incidence of Thrombocytopenia in Idiopathic Hyperbilirubinemic Newborns


Background: Hyperbilirubinemia is the most common reason for admission during the neonatal period and may develop serious complications. Thrombocytopenia is defined as platelet count <150,000/mm3 and has not been conclusively reported as a complication of hyperbilirubinemia in any of the standard paediatric textbooks. The aim of this study was to find the incidence of thrombocytopenia in neonates with idiopathic jaundice and the relationship between hyperbilirubinaemia and platelet count.

Methods: This was a descriptive-analytic study accomplished on 878 newborns. After a detailed history, clinical examination and baseline investigations,185 babies with idiopathic hyperbilirubinemia were tested for platelet counts and then categorized in two groups namely group A (n=65) and group B (n=120) showing the presence and absence of thrombocytopenia, respectively. Newborns data were recorded and Statistical analysis was carried out, using SPSS 11.5.

Results: The incidence of thrombocytopenia was seen in 65 (12%) newborns admitted due to jaundice. The mean serum bilirubin in group A and B was defined as 19.7 (± 6) and 20.4 (± 5), respectively (P = 0.362).There was no significant difference in Laboratory variables like TSH, T4, coombs test, reticulocite count, serum sodium and hematocrit values between two groups.

Conclusion: This study determines higher rate of thrombocytopenia among idiopathic hyperbilirubinemic neonates (36%) and helps the practitioner to be aware of this association and avoid unnecessary investigations.We did not find a significant correlation between serum bilirubin values and thrombocytopenia.

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Comparing Preterm and Term Newborns Serum Adiponectin and Leptin Concentrations and their Correlations with Anthropometric Parameters

, Walker JD, Havel PJ, et al. Adiponectin is present in cord blood but is unrelated to birth weight. Diabetes Care. 2003;26:2244-9. 20. Siahanidou T, Mandyla H, et al. Circulating levels of adiponectin in preterm infants. Arch Dis Child Fetal Neonatal. 2007; 92:f286-290. 21. Guerre-Millo M. Adipose tissue and adipokines: for better or worse. Diabetes Metab. 2004;30(1):13-9. 22. Jaquet D, Leger J, Levy-Marchal C, Oury JF, Czernichow P. Ontogeny of leptin in human fetuses and newborn: Impact of intrauterine growth retardation

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