[Early diagnosis of Turner syndrome in a newborn].

The Turner syndrome, karyotype 45,X0 in the classical form, often remains undiagnosed until significant growth retardation is presented and sexual maturation at the puberty fails to occur. The girls are as a rule with normal IQ. We report a case of an infant of a 24 years mother after two spontaneous abortions and one birth of a normal boy. The newborn girl is with IUGR, after birth we establish edema of the feet, prominent ears and systolic murmur. The echocardiography diagnoses cardiac malformation--bicuspid aortic valve and sub aortic obstruction. The chromosomal analysis shows karyotype 45,X0. We discuss the methods for prenatal and early postnatal diagnosis. In utero and in the neonatal period there are symptoms that make the diagnosis Turner syndrome probable so that chromosomal analysis should be made to confirm it. Looking for other malformations (heart, kidney, endocrine) is necessary. The early diagnosis makes possible the beginning of appropriate hormonal treatment to achieve normal growth and to induce puberty.

[Does human recombinant erythropoetin /R-HU-EPO/ treatment for anemia of prematurity have any effect on reducing the number of blood transfusions?].

OBJECTIVES: The aim of the study is to establish the influence of r-hu-EPO treatment for anemia of prematurity on changes in blood count values and the number of inevitable blood transfusions in premature infants. STUDY DESIGN: The study includes 148 newborn babies--birth weight < or =1400 g, gestational age < or =34 g.w. They were divided in 2 groups: group I--treated with r-hu-EPO 1000 E/kg/week and Fe++ 3-6 mg/kg/day from week 3 after birth; group II--controls, treated only with transfusions of red blood cells. The changes in blood count values (Hb, Ht, Ery, Ret) from day 15-25 until day 60-70 were followed and analyzed, as well as the number of inevitable blood transfusions. RESULTS: A significant increase in Hb and Ht values was established with r-hu-EPO treated babies. At day 60-70 mean values of Hb are: in r-hu-EPO group 111.1 +/- 11.06 g/l; in control group 99.20 +/- 10.77 g/l (p < 0.001). At the end of the period Ht is 32.02 +/- 3.28% in babies treated with r-hu EPO versus 29.10 +/- 2.87% with controls (p < 0.005). Ret count is significantly higher from day 25-30 in r-hu-EPO group (5.16 +/- 3.23%) versus controls (2.75 +/- 1.33%). Mean number of inevitable blood transfusions in r-hu-EPO treated group is significantly lower (2.06 +/- 1.62) versus controls--3.75 +/- 1.95 (p < 0.001). CONCLUSION: r-hu EPO treatment has effect on changes in Hb, Ht, Ret and reduces the number of inevitable blood transfusions for anaemia of prematurity.

[Guidelines for parenteral nutrition in high risk newborn babies].

High risk newborn babies, admitted and treated at the Intensive care units often have to be started on intravenous nutrition--total or partial. The guidelines which we propose are adapted to the specific needs of the various groups of critically ill newborns--daily intake of liquids and essential nutritional substances according the day of life and the birth weight, as well their variations depending on the clinical condition and the morbidity of the baby.

[Treatment of anaemia of prematurity with SS-R-Hu-erythropoietin and significance of hypoxia-inducible factor].

UNLABELLED: The main cause of anaemia of prematurity is low erythropoietin levels. A few years ago hypoxia-inducible factor/HIF/gene transcriptor was established, regulating not only the synthesis of erythropoietin /EPO/, but also other growth factors as well as enzymes of anaerobic glycolysis, activated by hypoxia. OBJECTIVES: The aim of the study is to establish in clinical practice the role of hypoxia, respectively, activated HIF during treatment with erythropoietin by analyzing variations in hematological values; to examine blood lactate levels as an indicator of activated HIF and anaerobic glycolysis with Hb values 110-120 g/l; to analyze the number and impact of red blood cells transfusions on different categories of babies. STUDY DESIGN; The study includes 112 premature infants born before 34 weeks of gestation and below 1400 g. 90 babies, treated with EPO (700-1000 E/kg weekly dose in 2-3 applications, for 2-4 weeks), values of Hb g/l, Ht%, Ret%, Platelets 109/l were followed and compared. Treated babies were divided in two groups: group I--treatment (starting at Hb below 106 g/l, Ht less than 31%); group II--late prophylaxis (starting at Hb > or = 106 g/l, Ht > or = 31%). Blood lactate was examined in 22 non oxygen dependent premature babies without EPO treatment, with Hb 110-120 g/l, Ht 29-32%. RESULTS: We found that in group II during the first 7-10 days Hb decreases to 105.6 (+/- 9.4) g/l, rising up afterwards to 113.5 (+/-11.0) g/l at day 25-30. Ret reach maximal values at day 15-20 when Hb drops below 110 g/l and Ht below 31%. In group I at day 25-30 of treatment is observed a rise in Hb up to 117.3 (+/-11.3) and of Ht up to 32.7% (+/- 2.6) and no decrease of Hb and Ht values during the first 7-10 days, while Ret rise up to maximal values 6.5% (+/- 3.6) at day 7-10. With Hb levels of 116.4 (+/- 4.6) g/l we found an increase in blood lactate levels up to 2.6 (+/- 0.7) mmol/l as an indicator of relative hypoxia and activated HIF. Mean number of blood transfusions in group I is 3.01(+/- 1.7), versus 2.15 (+/- 1.7) in group II (statistically non-significant). In 29 infants in group II treatment was started at Hb 110-120 g/l and the mean number of red blood cell transfusion is 1.8 (1.5)--statistically significant difference with group I. In 32% from the treated infants we found platelets count rising above 500 x 109/l. CONCLUSIONS: The presence of hypoxia at low levels of Hb and Ht leads to more rapid activation of erythropoiesis. Nevertheless, these babies need more red blood cell transfusions due to clinical symptoms of hypoxia. Normoxia after red blood cell transfusion leads to decrease of reticulocytes count by 30% and platelets by 35% in spite of treatment. The presence of relative hypoxia with Hb 110-120 g/l u Ht 31-32% is optimal for starting treatment with EPO--levels, low enough for activation of HIF and high enough to avoid blood transfusions.

[Early parenteral nutrition with very low and extremely low birth weight infants--practical approach].

UNLABELLED: Newborn infants with birth weight 1500 g and less (VLBW/ELBW) have higher nutritional needs, but enteral feeding is often insufficient or impossible. Parenteral nutrition (PN) as an important component of intensive care with them minimizes the risk of nutritional deficiency. OBJECTIVE: To evaluate the safety and efficacy of early PN administration in VLBW/ELBW infants. STUDY DESIGN: The prospective study includes 23 newborn babies with birthweight below 1500 g who were admitted to the NICU from 01.03. to 20.04. 2009. With all babies a PN was started from the first day of life with dextrose and amino acid solutions, adding lipid solutions in gradually increasing quantity on the second day. During the first 20 days of life for each baby were calculated on a daily basis the exact quantities of energy and the essential nutritional substances as well as the balance among them. All babies were followed up for weight gain, presence or absence of complications, related with parenteral nutrition as well as for: blood sugar, acid-base status, total serum protein, electrolytes, urea, triglycerides, billirubin, alkaline phosphatase, ASAT ALAT RESULTS: We found that due to the small infusion volumes during the first days, the minimal daily needed nutrition levels are reached at day 4-5. Nutritional intake at day 7-10 in most children is enough for growth. A positive mean weight gain for the whole group 6.6 g/kg/d (SD 6.2) is observed. Negative weight gain during the first 20 days is observed only with two critically ill babies with substantial reduction of infusion volume. In 9 babies a transient increase in urea levels was observed during the first week, 5 babies had an increase in triglycerides as a symptom of bad lipid tolerance. In 7 babies on prolonged total PN an increase in alkaline phosphatase is observed. Conclusions. Early and sufficient PN in newborn babies below 1500 g guarantees the daily intake of energy and essential nutritive substances for adequate growth and is a basic component of intensive therapy. It should be corresponding to the nutritional needs as well as to the clinical condition; matching the severity of complications and carried under strict laboratory control.

[Caesarean section by vertical incision of lower uterine segment].

OBJECTIVES: The aim of the study is to analyze the use of vertical incision of the lower uterine segment when performing Caesarean section (CS). MATERIAL AND METHODS: The study includes 89 pregnant women who delivered by CS. The main group includes 40 cases with vertical incision in lower uterine segment (preliminary intention, but final decision made during surgery) and controls--49 cases with transversal incision of lower uterus segment with difficulties/complications of fetus extraction (30 with uterine lacerations and 19 with T-form incision). The mean gestational age in the main group is 32 g.w. (range 26-39) vs. 31 in control group (27-39). RESULTS. Vertical incision of the uterus is performed in 57.5% due to prematurity and lack of enough space for transversal incision (lower uterine segment not yet formed), in 25 % the cause is situs transverses of the foetus and the rest of the cases are related with technical difficulties in isthmicotransversal approach (myoma praevia, anomalies of the uterus, adhesions of the omentum). C.S. is performed for mean 66 min. in the main group vs. 74 min. with controls (p < 0.05). Time to extraction of the foetus is less than a minute in main group vs more than a minute with controls. No lacerations are found with vertical incision of uterus. Blood loss in main group is 664 ml, vs. 884 ml in control group (p < 0.05). Mean values of pH from umbilical artery of the newborn is 7.257 in main group vs. 7.19 in controls (p < 0.05), resp. Apgar scores atb 5-th min. is 7 vs 6. CONCLUSIONS. Vertical incision of lower uterine segment before the formation of the latter, with situs transversus of the foetus and difficult approach renders the option for less lacerations intra operationem, less birth trauma with better final outcome for the newborn.