The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 04/2009; 22(4):368-70. DOI:10.1080/14767050802320332 · 1.21 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who died from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome.
[Show abstract][Hide abstract] ABSTRACT: Severe hypernatremic dehydration can cause serious neurological complications in neonates. The most significant problems include brain oedema, intracranial haemorrhage, sinus thrombosis, haemorrhagic infarcts and permanent brain damage. The symptoms of many of these complications are similar. With respect to brain MRI findings in hypernatremic neonates, this is a report that describes linear lesions that represent intracranial haemorrhage at the grey-white matter junction. These MRI findings may be helpful for diagnosing hypernatremic dehydration, and for ruling out differential diagnoses for complications of this disorder.
The British journal of radiology 03/2008; 81(962):e57-60. DOI:10.1259/bjr/28766369 · 2.02 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To evaluate the risk factors in the development of mild and severe retinopathy of prematurity (ROP).
All infants (n = 88) screened for ROP at a neonatal intensive care unit over a 2-year period with gestational age <or=34 weeks and follow-up of 43 weeks postconception were included. The findings were classified in accordance with the International Classification of Retinopathy of Prematurity. The study group was classified into three subgroups: group A included patients without retinopathy; group B included patients with stage 1 or 2 (mild-ROP); and group C included patients who progressed to moderate or severe stage 3 (severe-ROP) and were treated. A retrospective review of records was performed and statistical analysis of eight possible risk factors for ROP was evaluated by using logistic regression.
Logistic regression analysis showed birth weight (BW) (p=0.019) and respiratory distress syndrome (p = 0.029) as independent significant risk factors for the development of stage 1 and 2 ROP, with BW (p < 0.0001) as an independent significant risk factor for the progression to stage 3 ROP. Total volume of blood transfusion and duration of artificial ventilation were also found to be risk factors with high rates of stage 3 ROP. In group C, BW <or=1000 g (p = 0.0002) and gestational age <or=28 weeks (p < 0.0001) were significant risk factors associated with higher rates of ROP.
This study showed BW and respiratory distress syndrome as independent risk factors in the development of mild ROP and BW in the development of severe ROP.
Journal of American Association for Pediatric Ophthalmology and Strabismus 10/2006; 10(5):449-53. DOI:10.1016/j.jaapos.2006.05.007 · 1.14 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Newborn-related factors, including genetic prothrombotic risk factors, may affect the occurrence of neonatal thrombosis. In this report, a case of intrauterine iliofemoral arterial thrombosis associated with mild hyperhomocysteinemia caused by methylenetetrahydrofolate reductase 677C-T gene mutation is presented. We suggest that methylenetetrahydrofolate reductase gene mutation might be investigated in neonates and their families presenting with thromboembolic disease.
[Show abstract][Hide abstract] ABSTRACT: A recently isolated peptide hormone, hepcidin, is thought to be the principal regulator of iron homeostasis. Hepcidin acts by limiting intestinal iron absorption and promoting iron retention in reticuloendothelial cells. Its precursor peptide form is called pro-hepcidin. The aims of this study were to determine serum pro-hepcidin levels in healthy preterm and term newborns, and to assess possible relationships between pro-hepcidin and serum iron, serum ferritin, and transferrin. A serum sample was collected from each of 26 healthy preterm (gestational age < 37 weeks) and 16 healthy, full-term, appropriate-for-gestational age babies. The preterm babies were also divided into 2 subgroups based on gestational age. Samples were analyzed for complete blood count, serum iron and ferritin concentrations, iron-binding capacity, and transferrin and pro-hepcidin levels. Group findings were compared and correlations between pro-hepcidin and the iron parameters were tested. The respective serum pro-hepcidin levels (mean +/- SD) in the 16 healthy term and 26 healthy preterm newborns were 482 +/- 371.9 ng/mL and 496.7 +/- 443.5 ng/mL. Analysis revealed no significant correlations between serum pro-hepcidin level and serum iron, serum ferritin, or transferrin in the preterm or term newborns. Pro-hepcidin levels were not correlated with gestational age in the preterm group. The results indicate that healthy preterm and term newborns have high pro-hepcidin levels.
[Show abstract][Hide abstract] ABSTRACT: To determine the causes and related outcomes of early onset conjugated hyperbilirubinemia in a group of newborn infants and to determine the incidence of sepsis in these neonates.
The charts of 42 babies with conjugated hyperbilirubinemia were retrospectively reviewed.
The mean gestational age was 37 weeks and the mean postnatal age at presentation was 10 days. Culture-proven sepsis was identified in 15 babies (35.7% of total). Gram-negative bacteria were isolated in 10 cases and E. coli was the most common of these agents (7 cases). Perinatal hypoxia-ischemia was the second most frequent etiology (7 patients; 16.7% of total). The other diagnoses were blood group incompatibility (n=5), Down syndrome (n=3), cholestasis associated with parenteral nutrition (n=3), neonatal hepatitis (n=2), metabolic liver disease (n=1), biliary atresia (n=1), portal venous thrombosis (n=1) and unknown (n=4). Thirteen babies with sepsis recovered completely with treatment, whereas the prognosis for those with perinatal hypoxia-ischemia was grave (six of seven died).
The findings suggest that early onset cholestatic jaundice in newborn infants is more commonly from non-hepatic causes, so it is reasonable to monitor these infants carefully for a period of time before undertaking time-consuming or invasive investigations towards a primary liver disease.
The Indian Journal of Pediatrics 06/2006; 73(5):409-12. · 0.92 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: This study was undertaken to determine the frequency and investigate the etiology of extreme hyperbilirubinemia (total serum bilirubin [TSB]>or=25 mg/dL [428 micromol/L]) in newborns admitted to a neonatal intensive care unit in southern Turkey. The charts of 93 term and near-term infants admitted with TSB levels of 25 mg/dL (428 micromol/L) or greater in the first 30 days after birth were retrospectively reviewed. During the 4.5-year study period, 774 infants were admitted to our unit with neonatal jaundice. Ninety-three (12%) of these infants had TSB levels of 25 mg/dL (428 micromol/L) or greater. The mean TSB level in the 93 cases was 30.1+/-5.7 mg/dL (514.7+/-97.5 micromol/L), and the peak levels ranged from 25.0 to 57.4 mg/dL (428-981.5 micromol/L). Thirty-three (35.5%) of the 93 babies had TSB levels of 30 mg/dL (513 micromol/L) or greater. Eighty-nine of 93 infants were being exclusively breast-fed. Nineteen babies were isoimmunized, 7 were bacteremic, 2 of the 39 babies tested for glucose-6-phosphate dehydrogenase had this enzyme deficiency, and 1 of the 71 infants tested for thyroid function had hypothyroidism. No cause for extreme hyperbilirubinemia was found in 61 (65.6%) cases.
[Show abstract][Hide abstract] ABSTRACT: There is an increased risk of fetal goiter in patients who have a history of Grave's disease and undergo propylthiouracil (PTU) treatment during pregnancy. In this report, we describe a case of a fetal goiter detected by antenatal ultrasound at the 26th week of gestation in a mother treated with PTU for Grave's disease. A 32 x 38 x 20 mm fetal goiter was detected, each lobe measured 30 x 18 x 18 mm and estimated volume was 10 cm3. Subsequently, fetal thyroid function was assessed by umbilical fetal blood sampling. Cord blood showed elevated serum TSH (40.2 mU/l) and normal concentrations of free T4 (9.5 pmol/l) and free T3 (2.6 pmol/l). There were no other ultrasonographic signs of fetal hypothyroidism. Based on the above findings, the mother's PTU dosage was reduced to 50 mg daily from a total of 150 mg and weekly ultrasonographic examinations were performed. Six weeks after the initial ultrasound, a complete regression of the fetal goiter was noted. At the 34th week of gestation, the patient was delivered due to intrauterine growth restriction and oligohydramnios and gave birth to a male, weighing 1,920 g. The newborn thyroid was not palpable and thyroid ultrasonography was normal. Cord blood TSH was normal (8.4 mU/l) and free T4 was within lower normal limit (9.03 pmol/l). Ten days later, newborn thyroid function was normal and the baby did well afterwards. In conclusion, after the evaluation of fetal thyroid status, selected cases with fetal goiter can be initially managed without intrauterine treatment.
[Show abstract][Hide abstract] ABSTRACT: Although the connection between cholestasis and conjugated hyperbilirubinemia is well known, mild hepatic dysfunction or cholestasis may also be associated with unconjugated hyperbilirubinemia in some infants with prolonged jaundice. The aim of this study was to investigate the relationship between serum bilirubin levels and alanine aminotransferase levels, aspartate aminotransferase levels, prothrombin time, activated partial thromboplastin time, and international normalization ratio findings in a group of infants.
The study included 77 healthy, term, breast-fed infants with jaundice and 56 age-matched, healthy, term, non-jaundiced controls. The 133 babies were divided into three subgroups according to their total bilirubin levels [group I (controls) < 50 micromol/L, group II = 50-100 micromol/L, and group III > 100 micromol/L, and the findings for the noted parameters were compared].
The mean conjugated bilirubin level was significantly higher, and the mean activated partial thromboplastin time significantly longer in group III than in group I. A significant positive correlation was found between bilirubin levels and PT and APTT results.
Clinical vitamin K deficiency appeared unlikely to develop in this group of infants with prolonged unconjugated hyperbilirubinemia. However, a significant positive correlation between bilirubin levels and PT and APTT suggest that a higher bilirubin load to the liver may cause some degree of vitamin K deficiency due to mild cholestasis. The importance of this finding, and the possible benefits of vitamin K supplementation in 1-month-old breast-fed infants with bilirubin levels higher than 100 micromol/L require further investigation.
The Indian Journal of Pediatrics 03/2005; 72(3):205-7. DOI:10.1007/BF02859256 · 0.92 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Congenital adhesions between different parts of the oral cavity rarely occur. These adhesions usually present difficulty in feeding and even respiration soon after birth. In the case presented here the mild form of gum synechia without associated congenital anomaly was treated by excision of the anterior and posterior alveolar bands. Potential jaw and temporomandibular joint development was not compromised and functional problems were eliminated with such a noninvasive procedure.
The Journal of clinical pediatric dentistry 02/2003; 28(1):81-3. DOI:10.17796/jcpd.28.1.j3412500v2375v06 · 0.34 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Coarctation of the aorta can manifest in a number of ways. Differential diagnosis is particularly difficult during the neonatal period, especially in newborns presenting with a sepsis-like or metabolic disease-like condition. We describe five newborns who presented with metabolic acidosis, renal insufficiency, or ischemic hepatitis and stress the importance of early diagnosis to prevent adverse outcome.
Pediatric Emergency Care 09/2002; 18(4):E8-10. DOI:10.1097/00006565-200208000-00003 · 0.92 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: This report describes the case of a male infant with neonatal Marfan syndrome who also exhibited popliteal pterygia. The patient's father had classic Marfan syndrome. The differential diagnosis in the neonatal case included congenital contractural arachnodactyly (Beals syndrome) and various forms of popliteal pterygium syndrome. We note the diagnostic features of the case, discuss the novel finding of pterygia in association with neonatal Marfan syndrome, and highlight the possible role of collagen defects in the pathogenesis of limb pterygia.