[Show abstract][Hide abstract] ABSTRACT: Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.
Full-text · Article · Nov 2013 · Annals of Dermatology
[Show abstract][Hide abstract] ABSTRACT: Factor V (FV) deficiency is a rare coagulation disorder, characterized by a bleeding phenotype varying from mild to severe. To date, 115 mutations have been described along the gene encoding for FV (F5) but only few of them have been functionally characterized. Aim of this study was the identification and the molecular characterization of genetic defects underlying severe FV deficiency in a 7-month-old Turkish patient. Mutation detection was performed by sequencing the whole F5 coding region, exon-intron boundaries and about 300 bp of the promoter region. Functional analysis of the identified missense mutation was conducted by transient expression of wild-type and mutant FV recombinant molecules in COS-1 cells. Two novel mutations: a missense (Pro132Arg) and a 1-bp deletion (Ile1890TyrfsX19) were identified in the F5 gene. While the frameshift mutation is responsible for the introduction of a premature stop codon, likely triggering F5 mRNA to nonsense-mediated mRNA degradation, the demonstration of the pathogenic role of the Pro132Arg mutation required an experimental validation. Expression experiments showed that the missense mutation causes a significant reduction in FV secretion and in the specific activity of the residual secreted molecule (77% and 78% decrease, respectively). This paper reports the identification of two novel mutations responsible for FV deficiency, thus widening the mutational spectrum of the F5 gene. The Pro132Arg mutation adds to the only other two functionally characterized missense defects in the FV A1 domain.
[Show abstract][Hide abstract] ABSTRACT: An iron regulatory peptide hormone, hepcidin, is also part of the innate immune system and is strongly induced during infections and inflammation. The aim of the present study was to determine serum levels of the 60 aa pro-hormone form of hepcidin (pro-hepcidin) in full-term and preterm newborns with sepsis and to determine the possible relationships between pro-hepcidin levels and serum iron and complete blood count parameters.
Fifteen preterm newborns with sepsis, 17 healthy preterm, six full-term newborns with sepsis and 16 healthy full-term newborns were included the study. Blood samples were collected from patients with sepsis at the time of clinical diagnosis. Each blood sample was analyzed for complete blood count, serum iron and ferritin concentrations, iron-binding capacity, and pro-hepcidin level.
The mean serum pro-hepcidin level (mean +/- SD) in preterm neonates with sepsis and in healthy preterm newborns was 565.4 +/- 519.5 ng/mL and 279.8 +/- 227.6 ng/mL, respectively (P < 0.05). The mean serum pro-hepcidin level in full-term newborns with sepsis and in healthy full-term neonates was 981.4 +/- 415.4 ng/mL and 482 +/- 371.9 ng/mL, respectively (P < 0.05). Although the mean serum ferritin levels in the two groups with sepsis were higher when compared with the healthy groups, the difference was not statistically significant in full-term newborns. No statistically significant correlations were found between serum pro-hepcidin levels and any other parameters in each group.
Serum pro-hepcidin levels were higher in newborns with sepsis (either premature or full-term) than they were in healthy newborns at the time of clinical diagnosis.
No preview · Article · Apr 2009 · Pediatrics International
[Show abstract][Hide abstract] ABSTRACT: This article presents the case of a female newborn with irritability, increased tonus, jitteriness, and eating difficulties who was referred to our institution. Her mother had been taking fluoxetine (20 mg daily) during the second and third trimesters of her pregnancy. The infant's signs began on the first day after birth and persisted for 6 weeks. Extensive investigations excluded infective, genetic, and metabolic causes, and a provisional diagnosis of fluoxetine withdrawal was made. There have been few reports of neonatal complications following maternal fluoxetine hydrochloride treatment. According to these, signs occurred within a few days after birth and lasted up to 4 weeks. To our knowledge, our patient demonstrated the longest duration of signs reported to date. We recommend that physicians be aware of these complications in newborns after fetal exposure in utero to selective serotonin reuptake inhibitors. These neonates should be followed-up closely for adverse signs during the first days of life so that signs can be recognized and treated if necessary.
No preview · Article · Dec 2008 · 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
[Show abstract][Hide abstract] ABSTRACT: Small gestational age (SGA) is one of the major causes of fetal mortality and morbidity. Altered maternal homeostasis as a result of point mutations in the coagulation cascade has been reported as an important risk factor for this adverse pregnancy outcome. This study aims to investigate the relationship between mother's thrombophilic mutations and SGA deliveries in our population. The study group was consisted of sixty-six women who gave birth to one or more SGA babies. 104 women who gave birth to appropriate-for-gestational age (AGA) babies were sampled for the control group. Restriction fragment size analysis were performed by visualizing digested PCR products for Factor V Leiden (G1691A), Factor V Cambridge (A1090G), Factor V A1299G, prothrombin G20210A, methylene tetrahydropholate reductase C677T, A1298C and T1317C mutations. The results of this study indicate that maternal C677T (p=0.01) and A1298C (p<0.01) mutations in MTHFR gene may be suggested as risk factors for SGA outcome in our population. Therefore, maternal screening of these two mutations in the first trimester of pregnancy could help in the assessment of patients.
No preview · Article · Feb 2008 · Thrombosis Research
[Show abstract][Hide abstract] ABSTRACT: Congenital leukemia is rare, and is frequently diagnosed as a form of acute myeloid leukemia at, or immediately after birth. Some infections, viral in particular, can mimic clinical signs and/or laboratory findings of congenital leukemia. This is the first documented case of candidemia resembling leukemia.
Full-text · Article · Aug 2007 · Journal of Maternal-Fetal and Neonatal Medicine
[Show abstract][Hide abstract] ABSTRACT: The pathogenetic mechanisms of hepatic injury in perinatal asphyxia (PNA) are similar to those in ischemic hepatitis, yet liver involvement is currently not considered a component of multi-organ failure in PNA.
A retrospective study was done on 56 newborns with PNA. Hepatocyte injury was diagnosed based on elevated serum alanine transaminase level (>100 U/L, twice upper normal) with subsequent normalization.
Twenty-two of the patients had hepatocyte injury. Fetal distress, thrombocytopenia, convulsions, pathologic findings on imaging of the central nervous system, and a high rate of intrauterine growth retardation were the factors significantly associated with hepatocyte injury. This damage was also associated with high mortality.
No preview · Article · May 2007 · Journal of Maternal-Fetal and Neonatal Medicine
[Show abstract][Hide abstract] ABSTRACT: Although thrombocytosis is frequently detected in newborns, few reports have focused on its risk factors. This report documents the characteristics of 89 neonates with thrombocytosis followed up in a neonatal intensive care unit (NICU). We reviewed the patients' medical and laboratory records retrospectively to determine the associated conditions and risk factors for neonatal thrombocytosis, and complications related to thrombocytosis, We also discussed the differences of neonatal thrombocytosis from that of childhood in the light of literature, The mean platelet count of these newborns was 579.7 ± 111.5 (451-936) × 10 9/L. Associated conditions included anemia (73.7%), high-risk pregnancies (56. %), prematurity (51.7%), infections (37.1%), antenatal drug use (22.7%), indirect hyperbilirubinemia (20.2%), cardiac disorders (14.6%), respiratory distress syndrome (14.6%), history of hypoxia (13.5%), surgery (12.4%), and hemorrhage (3.4%). In most cases, more than one risk factor for thrombocytosis existed in the same newborn. No hemorrhagic complications related to thrombocytosis were observed; however, 1 newborn had portal vein thrombosis associated with intestinal malrotation, In summary, risk factors and associated conditions for thrombocytosis in newborns differed from those in children. In light of associated disorders, the mechanism of thrombocytosis in newborns may differ from that of childhood thrombocytosis.
[Show abstract][Hide abstract] ABSTRACT: Radiologically detected intraperitoneal free gas usually indicates a perforated abdominal viscus that requires surgical intervention. However, rarely, the presence of a pneumoperitoneum may not indicate an intraabdominal perforation and thus may not require laparotomy. This condition is defined as spontaneous pneumoperitoneum. Two newborn infants who developed pneumoperitoneum following pneumothorax in association with mechanical ventilation were reported. Pneumoperitoneum following pneumothorax due to possible barotrauma during resuscitation or mechanical ventilation should be considered a non-surgical condition and surgery should be suggested after contrast bowel studies or deteriorating condition of the patient.
No preview · Article · Aug 2006 · Turkiye Klinikleri Journal of Medical Sciences
[Show abstract][Hide abstract] ABSTRACT: Objectives: 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.Methods: The charts of 42 babies with conjugated hyperbilirubinemia were retrospectively reviewed.Results: 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). Gramnegative bacteria were isolated in 10 cases and E. coli was the most common
of these agents (7 cases). Perinatal hypoxiaischemia 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).Conclusions: 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.
No preview · Article · May 2006 · The Indian Journal of Pediatrics
[Show abstract][Hide abstract] ABSTRACT: No previous study has investigated the full range of complete blood count (CBC) parameters in small-for-gestational-age (SGA) newborns. The main aim of this study was to compare CBC and peripheral smear parameters in term, healthy SGA neonates and appropriate-for-gestational-age (AGA) neonates, and to establish CBC reference values for full-term SGA newborns. One hundred thirty-two healthy, term newborns (73 SGA and 59 AGA) were included. On day 1, we obtained 109 samples and on day 7 we obtained 77 samples. A CBC and peripheral smear were analyzed for each sample collected and group data were compared. We observed higher mean values for normoblast count, hemoglobin, hematocrit, and red blood cell (RBC) count in the SGA babies than in the AGA babies on day 1. The mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration values for the SGA babies were decreased because of the relatively high RBC count and relatively high mean corpuscular volume we observed in this group. Of the SGA newborns, 21.9% had neutropenia and 4.7% had absolute neutrophil counts lower than 1500/microl on day 1. On both day 1 and day 7, the SGA newborns had higher mean absolute metamyelocyte counts and higher mean I : T (immature : total neutrophil ratio) values than the AGA group. The SGA babies had a lower mean absolute lymphocyte count on day 7 than the AGA group. We detected thrombocytopenia in almost one-third of the 64 SGA newborns tested on day 1. In summary, our study clearly demonstrates that CBC parameters for healthy, full-term, SGA newborns are different from those of healthy, term AGA newborns. This is the first study that has documented different mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, metamyelocyte counts, lymphocyte counts, and I : T in SGA babies compared with AGA babies.
[Show abstract][Hide abstract] ABSTRACT: Hydrops fetalis associated with ABO incompatibility is an extremely rare condition. We report twin infants both afflicted with significant ABO hemolytic disease but showing different degrees of clinical severity, in which fatal hydrops developed in one of the twins. Hemolysis due to ABO incompatibility is usually difficult to diagnose. All causes of non-immune hydrops should be ruled out in order to identify hydrops due to ABO incompatibility.
Preview · Article · Jan 2006 · The Turkish journal of pediatrics
[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to determine what proportion of newborns admitted with idiopathic non-hemolytic hyperbilirubinemia exhibit severe weight loss and hypernatremia.
The prospective study involved 115 infants >48 h old who were admitted with jaundice between July 2002 and July 2003, and had unconjugated bilirubin levels >12 mg/dL. Premature babies (gestational age <37 weeks) and those with hemolytic jaundice and other pathologic causes of non-hemolytic jaundice were excluded. Postnatal age (days) at admission, bodyweight at admission, weight change since birth (percentage weight loss calculated at admission) and mode of feeding (breast-feeding, formula feeding, mixed feeding) were recorded. Severe weight loss was defined in babies who showed >10% weight loss or had not regained enough to reach birthweight by postnatal day 10. Serum Na levels and breast-milk Na levels were also measured.
Twenty-eight (33%) of the 86 newborns with idiopathic hyperbilirubinemia in the study exhibited severe weight loss. Almost all the 86 babies were exclusively breast-fed, and 10 babies (12%) had severe weight loss combined with hypernatremia. The group with severe weight loss and hypernatremia had higher breast-milk Na levels than the other infants.
The results indicate that a large proportion of babies with non-hemolytic jaundice have severe weight loss, and that breast-fed newborns with the combination of weight loss and hypernatremia may present with non-hemolytic jaundice.
No preview · Article · Sep 2005 · Journal of Paediatrics and Child Health
[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to evaluate hemoglobin levels of exclusively breast-fed (n=115), breasf-fed + formula-fed (n=21), and iron-fortified formula-fed (n=15) term infants for six months. We compared hemoglobin, meen corpuscular volume (MCV) and ferritin levels in the three groups. No significant difference was observed for hemoglobin, MCV and ferritin levels between the groups. At the sixth month, 15% of all infants had iron deficiency anemia. These infants were exclusively breast-fed (n=14) and partially breast-fed (n=1). Birth weight was significantly lower and weight gain in the first six months was higher in anemic infants than non-anemic infants. We conclude that in infants with low birth weight and rapid weight gain, prophylactic iron supplementation must continue.
No preview · Article · Jul 2005 · Cocuk Sagligi ve Hastaliklari Dergisi
[Show abstract][Hide abstract] ABSTRACT: In this study we investigated the effects of early enteral iron supplementation on erythrocyte and iron status parameters and on endogenous erythropoietin levels in very low birth weight infants. Thirty healthy preterm infants with birth weights between 920-1500 g were included in the study at a mean age of 16 days. Seventeen infants were randomized to receive 2-4 mg/kg/day enteral iron and 13 infants served as controls. Hemoglobin concentrations, mean corpuscular volume, reticulocyte count, serum iron, transferrin, transferrin saturation, ferritin and erythropoietin levels were studied on three consecutive venous blood samples taken at the beginning, and on the 7 th and 28 th days of the study. Hemoglobin concentration declined throughout the study in both groups. Serum iron levels and transferrin saturation increased during the study period in iron-supplemented infants. Although the erythropoietin levels were similar in both groups, a significant negative correlation between erythropoietin and hemoglobin concentration was observed in iron-supplemented infants on the 7 th and 28 th days of the study. Early enteral iron supplementation in very low birth weight infants seems beneficial by maintaining adequate iron levels and enhancing erythropoietin response to anemia.
No preview · Article · Mar 2005 · Cocuk Sagligi ve Hastaliklari Dergisi
[Show abstract][Hide abstract] ABSTRACT: A preterm infant with renovascular hypertension who developed significant trilineage bone marrow suppression after receiving captopril is reported. Captopril-associated pancytopenia is a very rare complication that was thought to be dose-related and usually caused by accumulation of the drug through defective renal tubular excretion. In our patient, it appears that the combination of renal artery stenosis and renal tubular dysfunction of prematurity might have led to pancytopenia. Captopril should be used with caution especially in premature babies and newborns with underlying renal or renovascular disease even if they do not have overt renal dysfunction. Monitorization of these babies with creatinine clearance or free serum captopril levels may help to establish accumulation of the drug before causing pancytopenia.
No preview · Article · Aug 2004 · Journal of Paediatrics and Child Health
[Show abstract][Hide abstract] ABSTRACT: Acute renal failure (ARF) is a common problem in the neonatal intensive care unit (NICU). In most cases, ARF is associated with a primary condition such as sepsis, metabolic diseases, perinatal asphyxia and/or prematurity. This retrospective study investigated the course of illness, therapeutic interventions, early prognosis and risk factors associated with development of ARF in the neonatal period. A total of 1311 neonates were treated in our NICU during the 42-month study period, and 45 of these babies had ARF. This condition was defined as serum creatinine level above 1.5 mg/dL despite normal maternal renal function. The data collected for each ARF case were contributing condition, cause and clinical course of ARF, gestational age and birth weight, age at the time of diagnosis, treatment, presence of perinatal risk factors and need for mechanical ventilation. The frequency of ARF in the NICU during the study period was 3.4%. Premature newborns constituted 31.1% of the cases. The mean birth weight in the group was 2863 +/- 1082 g, and the mean age at diagnosis was 6.2 +/- 7.4 days. The causes of ARF were categorized as prerenal in 29 patients (64.4%), renal in 14 patients (31.1%) and postrenal in 2 patients (4.4%). Forty-seven percent of the cases were nonoliguric ARF. Asphyxia was the most common condition that contributed to ARF (40.0%), followed by sepsis/metabolic disease (22.2%) and feeding problems (17.8%). Therapeutic interventions were supportive in 77.8% of the cases, and dialysis was required in the other 22.2%. The mortality rate in the 45 ARF cases was 24.4%. Acute renal failure of renal origin, need for dialysis, and need for mechanical ventilation were associated with significantly increased mortality (p<0.05). There were no statistical correlations between mortality rate and perinatal risk factors, oliguria, prematurity or blood urea nitrogen and creatinine levels. The study showed that, at our institution, ARF in the neonatal period is frequently associated with preventable conditions, specifically asphyxia, sepsis and feeding problems. Supportive therapy is effective in most cases of neonatal ARF. Acute renal failure of renal origin, need for dialysis, and need for mechanical ventilation were identified as indicators of poor prognosis in these infants. Early recognition of risk factors and rapid effective treatment of contributing conditions will reduce mortality in neonatal ARF.