Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association.

Holt-Oram syndrome (HOS) is characterized by upper-limb defects and congenital heart malformation, and its prevalence is very rarely. Mature cystic teratoma is the most common tumor seen in neonates and its most common location is sacrococcygeal region. Diagnosis of a sacrococcygealteratoma should be confirmed by pathology. Surgical resection is the mainstay therapeutic approach of this tumor. Some malformations such as genitourinary system, musculoskeletal anomalies, neural defects, cardiovascular anomalies, and pulmonary disorders associated with this tumor have been reported. Herein, we reported a male neonate diagnosed with HOS associated with sacrococcygealteratoma. To our knowledge, it has been not reported a case with HOS associated with sacrococcygealteratoma. Patients with sacrococcygealteratomas (SCTs) may have multiple and extreme congenital abnormalities; therefore, patients with SCTs should be carefully evaluated clinically, laboratory, and radiologically and it should be also considered that HOS may accompany them.

Cord Blood Levels of Spexin, Leptin, and Visfatin in Term Infants Born Small, Appropriate, and Large for Gestational Age and Their Association with Newborn Anthropometric Measurements

Objective: Children born small for gestational age (SGA) are at risk of future obesity and associated comorbidities. Therefore the identification of risk factors and novel biomarkers which are associated with this risk are needed for early detection and to improve preventive strategies. Spexin (SPX), a novel neuropeptide that is involved in the regulation of obesity and fat metabolism, is a candidate biomarker for predicting obesity and related comorbidities at an early age. The aim of this study was to investigate serum levels of SPX in term infants born small, appropriate, and large for gestational age (LGA) and its association with newborn anthropometric measurements. Methods: One hundred and twenty term newborn babies classified as SGA, appropriate for gestational age (AGA), or LGA and their mothers were included. SPX, leptin and visfatin were measured in cord blood and maternal serum by enzyme-linked immunosorbent assay. Results: Fifty-six (46.7%) neonates were girls and 64 (53.3%) were boys. The mean birth weight was 3170.70±663 g, birth length was 48.9±2.79 cm, and head circumference was 34.5±1.67 cm. Birth weights, lengths, and head circumferences of the neonates in the SGA, AGA, and LGA groups were significantly different. Cord blood SPX and leptin levels in the SGA groups were significantly lower than those of both the LGA and AGA groups. Cord blood visfatin levels were significantly lower in the AGA group than the LGA and SGA groups. Maternal SPX levels of SGA babies were significantly lower than those of the mothers in both the LGA and AGA groups, but no significant difference was observed between the SGA and LGA groups. Maternal visfatin levels of the AGA babies were significantly higher than the maternal levels of SGA and LGA groups. There was no difference in terms of maternal leptin levels. Cord blood SPX and leptin levels were positively correlated with birth weight, length and head circumference. Birth weight increased significantly in line with maternal pregestational body mass index. Conclusion: The lowest SPX levels were found in the SGA babies and cord SPX level was significantly correlated with newborn length, weight, and head circumference.

Comparison of cut and intact cord milking regarding cerebral oxygenation, hemodynamic and hematological adaptation of term infants.

OBJECTIVE: Although both delayed umbilical cord clamping and intact umbilical cord milking (I-UCM) provide the effective placental transfusion at birth, these procedures may not be used in neonates needing resuscitation. The aim of this study is to investigate the effect of cut umbilical cord milking (C-UCM), which permits resuscitation during an immediate transition period (ITP). METHODS: Sixty-two healthy term infants were randomly divided into C-UCM and I-UCM groups at birth. Approximately 30-cm length of cord was milked towards the baby 2-4 times within 20 seconds after birth in both C-UCM and I-UCM groups while the umbilical cord was cut in the former, and intact in the latter. Heart rate, arterial oxygen saturation (SpO2), cerebral regional oxygen saturation (crSO2) (2nd-15th min), blood pressure (BP) (within 15-30 min), residual placental blood volume (RPBV), and hemoglobin levels (at the sixth hour) were monitored during ITP. RESULTS: There were no significant differences in terms of mean gestational age (w) [(39.0 ± 1.2) versus (38.8 ± 1.1)], birth weight (g) [(3351.45 ± 254.30) versus (3256.94 ± 285.52)], Apgar scores at the 5th min (10 ± 0 versus 10 ± 0), first breathing time (sec) (5.4 ± 3.8 versus 5.7 ± 4.1), SpO2, crSO2, BP (mmHg) [(52.9 ± 6.9) versus (51.8 ± 5.7)], hemoglobin levels (g/dl) [(17.7 ± 1.8) versus (18.4 ± 1.4)], and RPBV (ml/kg) [(23.9 ± 4.7) versus (22.9 ± 5.4)] between C-UCM and I-UCM groups (p > .05). CONCLUSION: This study showed that C-UCM is as effective as I-UCM on cerebral oxygenation, hemodynamic and hematological adaptation of term infants in ITP. We suggest that C-UCM can provide additional placental transfusion in term neonates exposed to early cord clamping.

Dose-dependent effects of adalimumab in neonatal rats with hypoxia/reoxygenation-induced intestinal damage.

Tumor necrosis factor-alpha (TNF-α) has an important role in hypoxia/reoxygenation (H/R)-induced intestinal damage. It was shown that blocking TNF-α with infliximab has beneficial effects on experimental necrotizing enterocolitis and hypoxic intestinal injury. However, there is no data about the effect of adalimumab on H/R-induced intestinal damage. Therefore, we aimed to determine potential dose-dependent benefits of adalimumab in such damage in neonatal rats. Wistar albino rat pups were assigned to one of the four groups: control group, hypoxia group, low-dose adalimumab (5 mg/kg/day) treated group (LDAT), and high-dose adalimumab (50 mg/kg/day) treated group (HDAT). On the fourth day of the experiment, all rats except for the control group were exposed to H/R followed by euthanasia. Malondialdehyde (MDA), myeloperoxidase (MPO), TNF-α, total antioxidant capacity (TAC), and total oxidant capacity (TOC) were measured in intestinal tissue. TAC and TOC values were used to calculate the oxidative stress index (OSI). Histopathological injury scores (HIS) were also evaluated in the tissue samples. MDA levels were significantly lower in the LDAT and HDAT groups (p < 0.001). TNF-α levels were significantly lower in the LDAT group (p < 0.001). OSI was significantly higher in the H/R group than in the control and LDAT groups (p < 0.001). Mean HIS values in the LDAT group were significantly lower than those in the H/R and HDAT groups (p < 0.001). This experimental study showed that low-dose adalimumab appears to have a beneficial effect on intestinal injury induced with H/R in neonatal rats.

Acquired lung cysts in a premature neonate with congenital cytomegalovirus infection.

We report a preterm newborn diagnosed as having congenital cytomegalovirus infection who developed lung cysts during her clinical follow-up. The lung cysts were shown in chest X-ray, and confirmed by thoracic computed tomography. A few weeks after starting ganciclovir therapy, we observed that the cystic lung changes of the patient were completely improved. No adverse effects of antiviral therapy were observed. Based on this presented patient, it should be kept in mind that congenital cytomegalovirus infection may cause lung cysts.

An Observational, Prospective, Multicenter, Registry-Based Cohort Study Comparing Conservative and Medical Management for Patent Ductus Arteriosus.

No consensus has been reached on which patent ductus arteriosus (PDAs) in preterm infants require treatment and if so, how, and when they should be treated. A prospective, multicenter, cohort study was conducted to compare the effects of conservative approaches and medical treatment options on ductal closure at discharge, surgical ligation, prematurity-related morbidities, and mortality. Infants between 240/7 and 286/7 weeks of gestation from 24 neonatal intensive care units were enrolled. Data on PDA management and patients' clinical characteristics were recorded prospectively. Patients with moderate-to-large PDA were compared. Among the 1,193 enrolled infants (26.7 ± 1.4 weeks and 926 ± 243 g), 649 (54%) had no or small PDA, whereas 544 (46%) had moderate-to-large PDA. One hundred thirty (24%) infants with moderate-to-large PDA were managed conservatively, in contrast to 414 (76%) who received medical treatment. Eighty (62%) of 130 infants who were managed conservatively did not receive any rescue treatment and the PDA closure rate was 53% at discharge. There were no differences in the rates of late-onset sepsis, necrotizing enterocolitis (NEC), retinopathy of prematurity, intraventricular hemorrhage (≥Grade 3), surgical ligation, and presence of PDA at discharge between conservatively-managed and medically-treated infants (p > 0.05). Multivariate analysis including perinatal factors showed that medical treatment was associated with increased risk for mortality (OR 1.68, 95% Cl 1.01-2.80, p = 0.046), but decreased risk for BPD or death (BPD/death) (OR 0.59, 95%Cl 0.37-0.92, p = 0.022). The preferred treatment options were ibuprofen (intravenous 36%, oral 31%), and paracetamol (intravenous 26%, oral 7%). Infants who were treated with oral paracetamol had higher rates of NEC and mortality in comparison to other treatment options. Infants treated before postnatal day 7 had higher rates of mortality and BPD/death than infants who were conservatively managed or treated beyond day 7 (p = 0.009 and 0.007, respectively). In preterm infants born at <29 weeks of gestation with moderate-to-large PDA, medical treatment did not show any reduction in the rates of open PDA at discharge, surgical or prematurity-related secondary outcomes. In addition to the high incidence of spontaneous closure of PDA in the first week of life, early treatment (<7 days) was associated with higher rates of mortality and BPD/death.

Early neonatal outcomes of very-low-birth-weight infants in Turkey: A prospective multicenter study of the Turkish Neonatal Society.

OBJECTIVE: To investigate the early neonatal outcomes of very-low-birth-weight (VLBW) infants discharged home from neonatal intensive care units (NICUs) in Turkey. MATERIAL AND METHODS: A prospective cohort study was performed between April 1, 2016 and April 30, 2017. The study included VLBW infants admitted to level III NICUs. Perinatal and neonatal data of all infants born with a birth weight of ≤1500 g were collected for infants who survived. RESULTS: Data from 69 NICUs were obtained. The mean birth weight and gestational age were 1137±245 g and 29±2.4 weeks, respectively. During the study period, 78% of VLBW infants survived to discharge and 48% of survived infants had no major neonatal morbidity. VLBW infants who survived were evaluated in terms of major morbidities: bronchopulmonary dysplasia was detected in 23.7% of infants, necrotizing enterocolitis in 9.1%, blood culture proven late-onset sepsis (LOS) in 21.1%, blood culture negative LOS in 21.3%, severe intraventricular hemorrhage in 5.4% and severe retinopathy of prematurity in 11.1%. Hemodynamically significant patent ductus arteriosus was diagnosed in 24.8% of infants. Antenatal steroids were administered to 42.9% of mothers. CONCLUSION: The present investigation is the first multicenter study to include epidemiological information on VLBW infants in Turkey. Morbidity rate in VLBW infants is a serious concern and higher than those in developed countries. Implementation of oxygen therapy with appropriate monitoring, better antenatal and neonatal care and control of sepsis may reduce the prevalence of neonatal morbidities. Therefore, monitoring standards of neonatal care and implementing quality improvement projects across the country are essential for improving neonatal outcomes in Turkish NICUs.

The effects of bosentan on hyperoxia-induced lung injury in neonatal rats.

BACKGROUND: Bronchopulmonary dysplasia (BPD) remains an important cause of morbidity and mortality in premature infants. There is currently no proven effective treatment modality for BPD, and inflammation and oxidative injury play an important role in the pathogenesis of this disease. This study investigated the histopathological and biochemical effects of bosentan, which is a non-specific endothelin receptor antagonist with known antioxidant and anti-inflammatory properties, on hyperoxia-induced lung injury (HILI) in neonatal rats. METHODS: The experiment was performed on newborn rats from the 3rd to the 13th postnatal day. The rats were randomly divided into six groups: Group 1 (air-exposed + saline, n = 6); Group 2 (HILI, n = 8); Group 3 (air-exposed + bosentan, n = 7); Group 4 (HILI + saline, n = 7); Group 5 (HILI + early bosentan-treated group, n = 6), and Group 6 (HILI + late bosentan-treated group, n = 7). Bosentan was administered (30 mg/kg/day) intraperitoneally. The histopathological effects of bosentan on lung tissue were assessed by their alveolar surface area, fibrosis, and smooth muscle actin (SMA) scores, and the biochemical effects on lung tissue were assessed by interleukin-1 beta (IL-1ß), IL-6, IL-10, and tumor necrosis factor-alpha (TNF-α). RESULTS: The alveolar surface area and fibrosis scores were found to be significantly higher in HILI groups compared with Group 1 (P < 0.01). The SMA scores in HILI groups were also significantly higher than Group 1 (P < 0.01). Bosentan treatment, especially late therapy, reduced all of these histopathological scores and the levels of IL-6 and TNF-α in the hyperoxia groups (P < 0.01). CONCLUSION: This experimental study showed that bosentan had a protective effect on hyperoxic lung injury through its anti-inflammatory properties.

Caffeine prevents bilirubin-induced cytotoxicity in cultured newborn rat astrocytes.

OBJECTIVE: Unconjugated bilirubin (UCB) may cause neurotoxicity in preterm neonates due to immaturity of UGT1A1 leading to bilirubin accumulation in the brain. Caffeine used in the treatment of apnea of prematurity was reported to decrease mechanical ventilation requirement, the frequencies of bronchopulmonary dysplasia, patent ductus arteriosus, cerebral palsy and neurodevelopmental disorders in very low birth weight infants. However, the effect of caffeine on hyperbilirubinemia was not yet clarified. METHODS: We used astrocyte cell cultures obtained from 2-day-old Wistar albino rats via modified Cole and de Vellis method. UCB concentration toxic to 50% of astrocytes, and caffeine concentration increasing cell viability 100% were used in experiments. While no medication was applied to the control group, UCB (50 µM) and caffeine (100 µM) were applied to the bilirubin and caffeine groups for 24 h. Prophylactic and therapeutic caffeine groups were treated with caffeine 4 h before and after UCB exposure. The effects of caffeine were investigated in rat astrocytes exposed to UCB in terms of cell viability, apoptosis, antioxidant defense, proinflammatory cytokines, and Toll-like receptor (TLR)s. RESULTS: Compared to the control group, UCB increased apoptosis, malondialdehyde (MDA), tumor necrosis factor-α (TNF-α), interleukin (IL)-1ß, IL-6, total nitrate/nitrite, and TLR4 levels, and decreased cell viability, catalase (CAT), glutathione peroxidase (GPx), superoxide dismutase (SOD) activities, glutathione, and TLR9 levels (for all p < .001). Conversely, prophylactic and therapeutic caffeine improved the detrimental effects of UCB. CONCLUSIONS: Caffeine seems encouraging for the prevention and treatment of bilirubin neurotoxicity in rats by means of its antiapoptotic, antioxidant, anti-inflammatory, anti-nitrosative, and anti-TLR-4 properties.

Ischemia-modified albumin in preterm infants born to mothers with pre-eclampsia.

BACKGROUND: Pre-eclampsia (PE) carries an increased risk for maternal and/or fetal mortality or serious morbidity. PE is associated with ischemia and increased oxidative stress in the placenta, which may lead to modification of plasma albumin to ischemia-modified albumin (IMA). The aim of this study was to investigate IMA and hematological parameters in mothers and in premature infants in normal and in pre-eclamptic pregnancies. METHODS: Twenty-five pregnant women with PE and their premature newborns were categorized as the PE group, and 25 normotensive pregnant women and their premature newborns as the control group. Preterm infants are classified as small for gestational age (SGA) or non-SGA according to the Fenton preterm growth chart. Serum IMA, complete blood count (CBC), liver function tests (LFT), renal function tests (RFT), albumin, and C-reactive protein were measured in the mothers immediately before birth, and in the cord blood and serum of the newborns at 6 and 24 h after birth. Clinical and demographic data were recorded for both groups. RESULTS: While IMA, LFT and RFT were significantly increased in the PE group compared with the control group, albumin and CBC were significantly lower in the PE group. A total of 40% of PE newborns were SGA, 30% of whom had severe SGA (birthweight <3rd percentile). Cord IMA was significantly increased in all preterm neonates in the PE group compared with the control group. No mothers or neonates died. CONCLUSION: Serum IMA in addition to the prevalence of SGA were significantly increased in the PE group. Cord blood IMA, therefore, might be a predictive biomarker for SGA in PE pregnancies.

The role of UGT1A1 promoter polymorphism and exon-1 mutations in neonatal jaundice.

OBJECTIVE: In the present study, we investigated the effects of promoter polymorphism and an exon-1 mutation (G71R) in the UGT1A1 gene in neonates with unexplained hyperbilirubinemia and direct Coombs-negative [DC(-)] ABO incompatibility. METHODS: Two-hundred term neonates in their first week of life and without additional icterogenic factors were included in the study. Neonates with a serum total bilirubin (STB) level ≥17 mg/dL constituted the hyperbilirubinemia group (n = 100), while the control group comprised healthy neonates with a STB level <12.9 mg/dL (n = 100). The cases were further subdivided into unexplained hyperbilirubinemia (n = 50), ABO(+) hyperbilirubinemia (n = 50), ABO(-) control (n = 50), and ABO(+) control (n = 50) groups on the basis of the presence or absence of DC(-) ABO incompatibility. DNA was isolated from peripheral blood and amplified by PCR, and UGT1A1 gene promoter and exon-1 were sequenced to verify sequence alterations. RESULTS: The frequency of TA6/6, TA6/7, TA7/7, and GGA/GGA, GGA/AGA, AGA/AGA genotypes was found to be 63.5%, 21%, 15.5%, and 91.5%, 8%, 0.5%, respectively. While both heterozygous and homozygous TA7 polymorphism increased risk of hyperbilirubinemia in the ABO(+) hyperbilirubinemia group (heterozygous OR 16.76, 95% CI:3.52-79.70, p < 0.0001; homozygous OR 6.81, 95% CI:1.98-23:42, p = 0.002), only heterozygous TA7 polymorphism increased jaundice risk (OR 5.08 95% CI:76-14.65, p = 0.003) in unexplained hyperbilirubinemia. But, the coexistence of G71R mutation and promoter polymorphism or G71R mutation and DC(-) ABO incompatibility did not increase the severity of hyperbilirubinemia (p > 0.05). CONCLUSIONS: UGT1A1 gene promoter polymorphism and G71R mutation are possible risk factors for Turkish neonates with DC(-) ABO incompatibility and unexplained hyperbilirubinemia.

An unusual complication of endotracheal intubation: ingestion of a bulb in a premature neonate.

Endotracheal intubation is a common daily procedure used for sustaining life in premature and term neonates in the neonatal intensive care unit. This procedure can be associated with some iatrogenic complications. One of these complications is ingesting a laryngoscope light bulb, and it is an extremely rare complication in neonates. The consequences of ingestion or aspiration may be serious and life-threatening. Herein, a male premature neonate, ingested a laryngoscope light bulb during endotracheal intubation because of surfactant replacement therapy, is reported. This case re-affirms the importance of checking the integrity of equipment before intubation effort.

Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS.

A Newborn with Congenital Mixed Phenotype Acute Leukemia After In Vitro Fertilization.

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested.

Paracetamol therapy for patent ductus arteriosus in premature infants: a chance before surgical ligation.

Patent ductus arteriosus (PDA) remains a common problem in premature infants. Treatment options include pharmacologic therapy and surgical ligation, but these are associated with potentially significant adverse effects. This report describes the effect of administering oral paracetamol to premature neonates with PDA. The study enrolled seven premature neonates followed up with the diagnosis of hemodynamically significant PDA (hsPDA) between February and December 2012 and treated with oral paracetamol. Patients with hsPDA were given at least two or more courses of ibuprofen treatment. If this therapy failed to promote ductal closure, the patients with clinical symptoms who had hsPDA defined by echocardiography were treated with oral paracetamol (15 mg/kg every 6 h). If these patients did not respond to paracetamol therapy, the PDA was closed by surgical ligation. The mean gestational age of the seven patients in this study was 26.1 weeks, and their mean birth weight was 936 g. Paracetamol treatment was started at 36.2 ± 11.6 days. The mean internal ductal diameter was 2.0 ± 0.2 mm, and the left atrium-to-aorta ratio was 1.5 ± 0.2. All the patients were administered oral paracetamol because of no response to ibuprofen treatment. The hsPDA was successfully closed with oral paracetamol in five (71.4 %) of the seven patients. The remaining two patients had surgical ligation performed, but one of them died. No side effects related to paracetamol were observed. Oral paracetamol may be used as an alternative drug for the management of hsPDA in premature neonates when ibuprofen treatment is unsuccessful and the only other therapeutic option is surgery.

Calcinosis cutis in a newborn with transient pseudohypoparathyroidism.

Pseudohypoparathyroidism (PHP) is a heterogenous group of disorders characterized by hypocalcemia with hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biological activity of PTH. Calcinosis cutis, the cutaneous deposition of calcium salts in the dermis, is a rare clinical symptom in infancy. The deposition of calcium in the skin may be classified as dystrophic, metastatic, idiopathic, and iatrogenic. Although a few infants with PHP and calcinosis cutis have been reported, to the authors' knowledge, the combination of neonatal transient PHP and calcinosis cutis associated with calcium treatment has not been previously reported. The authors report a newborn boy with transient PHP presenting with early hypocalcemia, hyperphosphatemia, increased PTH levels, and calcinosis cutis after intravenous treatment of calcium gluconate.

Protective effects of Ginkgo biloba extract in rats with hypoxia/reoxygenation-induced intestinal injury.

BACKGROUND: The purpose of this study is to investigate the protective effects of Ginkgo biloba extract (EGb 761) in rat pups with hypoxia/reoxygenation (H/R)-induced bowel injury. METHODS: One-day-old Wistar albino rat pups (n = 21) were randomly divided into 3 groups: group 1 (control, untreated and not exposed to H/R, n = 7), group 2 (untreated but exposed to H/R, n = 7), and group 3 (EGb 761 + H/R, n = 7). Ginkgo biloba extract was administered (100 mg/kg per day, subcutaneously) to group 3 for 3 days. On the fourth day, all animals except controls were exposed to H/R and were killed 6 hours after H/R. Histopathologic injury scores (HIS), malondialdehyde, glutathione (GSH), GSH-peroxidase (Px) activities, and nitric oxide (NO) levels were measured on intestinal samples. RESULTS: Although the control group had normal HIS, group 2 had grade 3 HIS. In contrast, group 3 had minimal HIS, and these results were significantly better than those of group 2 (P < .001). Malondialdehyde and NO levels of group 3 were significantly lower than those of group 2 (P < .01). Glutathione and GSH-Px activities of group 1 were higher than those of groups 2 and 3 (P < .05). However, there were no significant differences for GSH and GSH-Px activities between groups 2 and 3. CONCLUSIONS: This study showed that hypoxia and NO contributed to the pathogenesis of H/R-induced intestinal injury and that prophylactically administered EGb 761 had a protective effect on bowel injury.

Protective effects of clarithromycin in rats with hypoxia/reoxygenation-induced intestinal injury.

BACKGROUND: This study was designed to determine the role of oxidative stress, nitric oxide (NO), and glutathione-related antioxidant enzymes in rat pups with hypoxia/reoxygenation (H/R)-induced bowel injury and to evaluate the potential benefits of prophylactic clarithromycin. METHODS: One-day-old Wistar albino rat pups (N = 21) were randomly divided into 3 groups: group I (control), group II (exposed to H/R), and group III (clarithromycin + H/R). Clarithromycin was administered (40 mg/kg) subcutaneously to group III for 3 days. On the fourth day, all rats except controls were exposed to H/R and were killed at 6 hours after H/R. Histopathologic injury scores (HIS), malonyldialdehyde, glutathione (GSH), glutathione-peroxidase (GSH-Px) activities, and NO levels were measured on intestinal samples. RESULTS: Whereas there was no difference for malonyldialdehyde levels among groups, HIS and NO levels were higher in group II than groups I and III (P < .05). However, GSH and GSH-Px activities were lower in group II than groups I and III (P < .05). Clarithromycin significantly increased GSH and GSH-Px activities and reduced HIS and NO levels in group III. CONCLUSION: This study showed that oxidative stress and NO contributed to the pathogenesis of H/R-induced bowel injury and that clarithromycin had a protective effect on bowel injury owing to anti-inflammatory and antioxidant effects.

A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns.

The etiology of pathological jaundice can not be identified in almost half of the cases. The effect of promoter polymorphism in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene was investigated in healthy breast-fed Turkish neonates with unexplained and direct Coombs'-negative ABO incompatible hyperbilirubinemia. Newborns whose peak serum bilirubin levels were > or = 17 mg/dl and < or = 12.9 mg/dl within the first week of life formed the idiopathic hyperbilirubinemia (n: 50) and control (n: 54) groups, respectively. Thymine-adenine (TA) repeats in the promoter region of the UGT1A1 gene were investigated by polymerase chain reaction (PCR)-based non-radioactive DNA sequencing. In the idiopathic hyperbilirubinemia group, higher peak bilirubin levels, higher heterozygous and variant homozygous genotypes, higher TA7 allele frequencies, and shorter peak time were observed (p < 0.001, p < 0.001, p < 0.001, p < 0.05, respectively). In conclusion, healthy breast-fed Turkish neonates who carry heterozygous and variant homozygous genotypes in the UGT1A1 gene are at high risk of developing significant hyperbilirubinemia without additional icterogenic factors.

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. Nonsyndromic split hand/foot malformation (SHFM) is one of the EEC-like syndromes, and the p63 gene mutation was reported in only a few patients. Five different loci have been mapped to date, but the etiology is yet to be explained in the rest of the patients. Here, we report two cases. Case 1, diagnosed with EEC syndrome, had type 2 urogenital sinus and a new heterozygous mutation of 934G>A (D312N) in exon 8 of the p63 gene. Case 2 was diagnosed as SHFM with no mutation in the p63 gene. Genotype and phenotype correlation of these two cases among the reported patients is discussed in this report.