E Okulu, G Tunc, T Eminoglu, O Erdeve, B Atasay and S Arsan
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.
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
, Damania KR. Abnormal Doppler flow velocimetry in the growth restricted foetus as a predictor for necrotizing enterocolitis. JPGM 2002; 48 (3): 182 - 185.
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32. Reber KM, Nankervis CA, Nowicki PT. Newborn intestinal circulation: physiology and pathophysiology. Clin Perinatol 2002; 29: 23 - 39.
Anna B. Pilewska-Kozak, Beata B. Dobrowolska, Anna Majewska, Grażyna Stadnicka, Agnieszka K. Pawłowska-Muc, Klaudia Pałucka, Agnieszka Bałanda-Bałdyga and Joanna Tkaczuk-Włach
– 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
K. Javorka, M. Javorka, I. Tonhajzerova, A. Calkovska, Z. Lehotska, Z. Bukovinska and M. Zibolen
healthy newborn infants. Am J Cardiol 2002; 89:50-53.
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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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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.
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Dluholucký S., Knapková M. Analysis of secular increase of congenital hypothyroidism in
Hassan Boskabadi, Shahin Mafinezhad, Fatemah Bagher and Yasaman Bozorgnia
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.
Snezhana Palchevska, Marija Krstevska, Elena Shukarova, Natasha Aluloska, Marija Jakimoska, Dragoslav Kocevski and Mirjana Kocova
, Walker JD, Havel PJ, et al. Adiponectin is present in cord blood but is unrelated to birth weight. Diabetes Care. 2003;26:2244-9.
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