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Newborn Period (newborn + period)
Selected AbstractsBile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the alagille syndrome hepatic phenotype,HEPATOLOGY, Issue 6 2008Matthew J. Ryan Alagille syndrome (AGS) is a heterogeneous developmental disorder associated with bile duct paucity and various organ anomalies. The syndrome is caused by mutations in JAG1, which encodes a ligand in the Notch signaling pathway, in the majority of cases and mutations in the NOTCH2 receptor gene in less than 1% of patients. Although a wide array of JAG1 mutations have been identified in the AGS population, these mutational variants have not accounted for the wide phenotypic variability observed in patients with this syndrome. The Fringe genes encode glycosyltransferases, which modify Notch and alter ligand-receptor affinity. In this study, we analyzed double heterozygous mouse models to examine the Fringe genes as potential modifiers of the Notch-mediated hepatic phenotype observed in AGS. We generated mice that were haploinsufficient for both Jag1 and one of three paralogous Fringe genes: Lunatic (Lfng), Radical (Rfng), and Manic (Mfng). Adult Jag1+/,Lfng+/, and Jag1+/,Rfng+/, mouse livers exhibited widespread bile duct proliferation beginning at 5 weeks of age and persisting up to 1 year. The Jag1+/,Mfng+/, livers showed a subtle, yet significant increase in bile duct numbers and bile duct to portal tract ratios. These abnormalities were not observed in the newborn period. Despite the portal tract expansion by bile ducts, fibrosis was not increased and epithelial to mesenchymal transition was not shown in the affected portal tracts. Conclusion: Mice heterozygous for mutations in Jag1 and the Fringe genes display striking bile duct proliferation, which is not apparent at birth. These findings suggest that the Fringe genes may regulate postnatal bile duct growth and remodeling, and serve as candidate modifiers of the hepatic phenotype in AGS. (HEPATOLOGY 2008;48:1989,1997.) [source] Screening and outcomes in biliary atresia: Summary of a National Institutes of Health workshop,,HEPATOLOGY, Issue 2 2007Ronald J. Sokol Biliary atresia is the most common cause of end-stage liver disease in the infant and is the leading pediatric indication for liver transplantation in the United States. Earlier diagnosis (<30-45 days of life) is associated with improved outcomes following the Kasai portoenterostomy and longer survival with the native liver. However, establishing this diagnosis is problematic because of its rarity, the much more common indirect hyperbilirubinemia that occurs in the newborn period, and the schedule for routine infant health care visits in the United States. The pathogenesis of biliary atresia appears to involve immune-mediated fibro-obliteration of the extrahepatic and intrahepatic biliary tree in most patients and defective morphogenesis of the biliary system in the remainder. The determinants of the outcome of portoenterostomy include the age at surgery, the center's experience, the presence of associated congenital anomalies, and the postoperative occurrence of cholangitis. A number of screening strategies in infants have been studied. The most promising are early measurements of serum conjugated bilirubin and a stool color card given to new parents that alerts them and their primary care provider to acholic stools. This report summarizes a National Institutes of Health workshop held on September 12 and 13, 2006, in Bethesda, MD, that addressed the issues of outcomes, screening, and pathogenesis of biliary atresia. (HEPATOLOGY 2007;46:566,581.) [source] Methylxanthines and sensorineural outcome at 14 years in children < 1501 g birthweightJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1 2000PG Davis Objectives: Methylxanthines, including theophylline, have been used extensively and successfully to treat apnoea in preterm infants. However, long-term consequences of such therapy are largely unknown. The aim of this study was to determine the relationship between theophylline therapy and outcome at 14 years of age in surviving preterm children of birthweight < 1501 g. Methodology: The subjects of this study were 154 consecutive survivors with birthweights < 1501 g born from 1 October 1980 to 31 March 1982; 130 (84.4%) were assessed at 14 years of age. Outcomes included motor function, psychological test scores, and growth. Results: Of the 130 children assessed, 69 (53.1%) had been exposed to theophylline; 13.0% had cerebral palsy, significantly higher than 1.6% in the 61 children not exposed to theophylline (P < 0.02). This difference remained statistically significant after adjusting for potential confounding variables including the presence of cerebroventricular haemorrhage. In contrast, after adjusting for known confounding variables, children who had received theophylline achieved higher psychological test scores. There was no association between theophylline therapy and growth. Conclusions: Theophylline therapy in the newborn period is associated with some evidence of harmful, but also helpful sensorineural effects at 14 years of age. [source] Prenatal Alcohol Exposure Alters Biobehavioral Reactivity to Pain in NewbornsALCOHOLISM, Issue 4 2010Tim F. Oberlander Objectives:, To examine biobehavioral responses to an acute pain event in a Cape Town, South Africa, cohort consisting of 28 Cape Colored (mixed ancestry) newborns (n = 14) heavily exposed to alcohol during pregnancy (exposed), and born to abstainers (n = 14) or light (,0.5 oz absolute alcohol/d) drinkers (controls). Methods:, Mothers were recruited during the third trimester of pregnancy. Newborn data were collected on postpartum day 3 in the maternity obstetrical unit where the infant had been delivered. Heavy prenatal alcohol exposure was defined as maternal consumption of at least 14 drinks/wk or at least 1 incident of binge drinking/mo. Acute stress-related biobehavioral markers [salivary cortisol, heart rate (HR), respiratory sinus arrhythmia (RSA), spectral measures of heart rate variability (HRV), and videotaped facial actions] were collected thrice during a heel lance blood collection (baseline, lance, and recovery). After a feeding and nap, newborns were administered an abbreviated Brazelton Neonatal Behavioral Assessment Scale. Results:, There were no between-group differences in maternal age, marital status, parity, gravidity, depression, anxiety, pregnancy smoking, maternal education, or infant gestational age at birth (all ps > 0.15). In both groups, HR increased with the heel lance and decreased during the postlance period. The alcohol-exposed group had lower mean HR than controls throughout, and showed no change in RSA over time. Cortisol levels showed no change over time in controls but decreased over time in exposed infants. Although facial action analyses revealed no group differences in response to the heel lance, behavioral responses assessed on the Brazelton Neonatal Scale showed less arousal in the exposed group. Conclusions:, Both cardiac autonomic and hypothalamic,pituitary,adrenal stress reactivity measures suggest a blunted response to an acute noxious event in alcohol-exposed newborns. This is supported by results on the Brazelton Neonatal Scale indicating reduced behavioral arousal in the exposed group. To our knowledge, these data provide the first biobehavioral examination of early pain reactivity in alcohol-exposed newborns and have important implications for understanding neuro-/biobehavioral effects of prenatal alcohol exposure in the newborn period. [source] Congenital hyperinsulinism , a review of the disorder and a discussion of the anesthesia managementPEDIATRIC ANESTHESIA, Issue 7 2007OLGA T. HARDY MD Summary Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. In most affected infants, CHI is caused by a specific genetic defect that results in the altered expression of pancreatic beta cells causing unregulated oversecretion of insulin. Infants with CHI may have either focal or diffuse abnormalities of the pancreatic , -cells. Both forms of CHI manifest as hypoglycemia, usually in the early newborn period. Focal disease can be treated effectively with surgical resection of the affected area, resulting in a total cure or rendering the patient amenable to medical management. Most children with diffuse disease are unresponsive to medical therapy, and require near-total pancreatectomy. At The Children's Hospital of Philadelphia, we have developed a multidisciplinary program for diagnosis and treatment of CHI. Anesthesiologists have played an integral role in the perioperative care of these infants, which includes diagnostic procedures, partial or near-total pancreatectomy, and postoperative pain management. In this review, we describe the clinical features, diagnostic methods and anesthetic concerns in children with CHI. [source] Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis?PEDIATRIC PULMONOLOGY, Issue 10 2010Jo-Anne Johnson MBChB Abstract It is a matter of debate as to what extent the long-term outcome of cystic fibrosis (CF) is affected by presenting with meconium ileus (MI). We compared long-term clinical outcomes of CF children who presented with MI, to those presenting with other symptoms (non-MI) in an era of non new-born-screening (NBS). We collected annual lung function data between the ages of 8,15 years in terms of percent predicted first second forced expired volume (FEV1%pr), percent predicted forced vital capacity (FVC%pr), and between the ages of 2,15 years annual height and weight Z-scores (HtZ and WtZ respectively) for children attending the Royal Brompton Hospital CF clinic. To be included in the study, subjects had to have at least five pulmonary function tests and five anthropometric measurements recorded over this period. Thirty-eight MI and 76 non-MI subjects were compared. There were no significant differences in genotype, sex, chronic Pseudomonas infection, or pancreatic enzyme use between the two groups. The median age of diagnosis was 1 day (MI) versus 7 months (non-MI). There was a decline in spirometry and anthropometric variables over the study period for both MI and non-MI groups apart from WtZ score in the non-MI group. Mixed model analysis adjusting for potential confounders including genotype, pancreatic status, sex, chronic Pseudomonas aeruginosa lung infection, and age of diagnosis revealed no difference between the two groups in terms of lung function and growth during the time period of the study, however there was a non-significant trend for subjects presenting with MI to do better in all four parameters. We conclude that babies presenting with MI have no worse long-term outcome than those presenting symptomatically later in infancy, despite having undergone invasive procedures in the newborn period. This underscores the importance of early diagnosis and treatment in CF. Pediatr Pulmonol. 2010; 45:951,958. © 2010 Wiley-Liss, Inc. [source] Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine,PEDIATRIC PULMONOLOGY, Issue 6 2009Debra E. Weese-Mayer Abstract The modern story of CCHS began in 1970 with the first description by Mellins et al., came most visibly to the public eye with the ATS Statement in 1999, and continues with increasingly fast paced advances in genetics. Affected individuals have diffuse autonomic nervous system dysregulation (ANSD). The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS; a mutation in the PHOX2B gene is requisite to the diagnosis of CCHS. Approximately 90% of individuals with the CCHS phenotype will be heterozygous for a polyalanine repeat expansion mutation (PARM); the normal allele will have 20 alanines and the affected allele will have 24,33 alanines (genotypes 20/24,20/33). The remaining ,10% of individuals with CCHS will have a non-PARM (NPARM), in the PHOX2B gene; these will be missense, nonsense, or frameshift. CCHS and PHOX2B are inherited in an autosomal dominant manner with a stable mutation. Approximately 8% of parents of a CCHS proband will be mosaic for the PHOX2B mutation. A growing number of cases of CCHS are identified after the newborn period, with presentation from infancy into adulthood. An improved understanding of the molecular basis of the PHOX2B mutations and of the PHOX2B genotype/CCHS phenotype relationship will allow physicians to anticipate the clinical phenotype for each affected individual. To best convey the remarkable history of CCHS, and to describe the value of recognizing CCHS as a model for translational and transitional autonomic medicine, we present this review article in the format of a chronological story, from 1970 to the present day. Pediatr Pulmonol. 2009; 44:521,535. © 2009 Wiley-Liss, Inc. [source] Optimal oxygen therapy in the newborn periodPEDIATRIC PULMONOLOGY, Issue S26 2004FRCPE, Ola Didrik Saugstad MD No abstract is available for this article. [source] Lipoid proteinosis: A case with ophthalmological and psychiatric findingsTHE JOURNAL OF DERMATOLOGY, Issue 3 2006Sevgi BAHADIR ABSTRACT Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14-year-old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP. [source] Maternal and neonatal outcomes in 54 triplet pregnancies managed in an Australian tertiary centreAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2004Andrea BARKEHALL-THOMAS Abstract Background:, To provide current data on maternal and neonatal outcomes in triplet pregnancies in an Australian population. Methods:, Retrospective case note review of all triplet pregnancies managed within a single Australian tertiary centre. Results:, Fifty-four sets of triplets were managed from January 1996 to October 2002. A total of 59% resulted from the use of assisted reproductive technologies. The median gestation at delivery was 32.5 weeks (range: 21,36 weeks); 14% delivered prior to 28 weeks and 43% delivered before 32 weeks. Preterm labour and preterm rupture of membranes were the most common antenatal complications occurring in 57 and 22% of pregnancies, respectively. A total of 93% of pregnancies were delivered by Caesarean section and 37% of mothers experienced at least one post-partum complication. A total of 96% of neonates were liveborn, with a median birthweight of 1644 g (range: 165,2888 g). The two most common neonatal complications were jaundice and hypoglycaemia in 52 and 43% of liveborn neonates, respectively. A total of 28% of neonates were below the 10th centile for gestational age and sex. A total of 8% of neonates demonstrated congenital anomalies. The perinatal mortality at a gestational age of 20,24 weeks was 100%, 22% at 25,28 weeks and zero for those babies born at 29 weeks or beyond. Conclusion:, Assisted reproductive technologies contribute significantly to the incidence of triplet pregnancies. Gestational age at delivery and perinatal mortality is comparable to published international data. Triplets born in a tertiary centre beyond 28 weeks gestation have a very favourable prognosis in the newborn period. [source] National rates of birth defects among hospitalized newborns,,§BIRTH DEFECTS RESEARCH, Issue 11 2006T.M. Bird Abstract BACKGROUND: The Healthcare Cost and Utilization Project (HCUP) family of hospital discharge databases offer an unprecedented opportunity to generate national estimates of newborn infants with birth defects. This report estimates national hospital admissions for newborn infants diagnosed with birth defects computed from HCUP and compares them to pooled prevalence figures computed from state birth defect surveillance systems. METHODS: HCUP-derived rates of 36 birth defects from 1997 through 2001 were compared to rates derived from pooled data reported by 26 state-based surveillance systems stratified by inclusion of elective terminations in case definitions. Rate ratios (RRs) were calculated for each birth defect by dividing the rate derived from HCUP by the rate derived from the relevant surveillance systems. RESULTS: HCUP newborn hospitalization rates for birth defects closely approximate pooled birth defect rates for surveillance systems that do not include elective terminations. HCUP rates were not significantly different for 35 of 36 defects. Overall, 20 HCUP rates were within 10% of state rates, 11 more were within 20% of state rates, and only 1 differed by more than 50%. HCUP rates compared most closely to state rates for cardiovascular (VSD RR = 0.98, ASD = 0.96, pulmonary valve atresia and stenosis = 0.92), orofacial (cleft palate RR = 1.10, cleft lip = 1.06), and genitourinary defects (obstructive genitourinary RR = 1.01, bladder exstrophy = 0.97). HCUP rates compared less favorably to rates derived from surveillance systems that included elective terminations. CONCLUSIONS: HCUP data approximate state-based surveillance system data for defects that are easily recognized in the newborn period and infrequently a cause for elective termination. HCUP data can be used to examine the impact of public health efforts on the number of infants born with birth defects as well as the cost and consequences of variations in the hospital management of birth defects. Birth Defects Research (Part A), 2006. © 2006 Wiley,Liss, Inc. [source] Toxic epidermal necrolysis in a premature infant of 27 weeks' gestational ageBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2005K. Lohmeier Summary Toxic epidermal necrolysis (TEN) is very rare in the newborn period. So far, three cases of TEN in newborns have been reported worldwide. We report a premature infant of 27 weeks' gestational age with TEN at 4 weeks of age. Sepsis treated by an antibiotic combination regimen preceding the TEN was a common feature of all four cases. In our patient, coagulase-negative staphylococci could be identified by blood culture, whereas the previously reported patients suffered from Klebsiella pneumoniae sepsis or Escherichia coli sepsis. Possibly, the uniform association with septic infection in the cases of TEN in the neonatal period might hint at a causal association, thus differentiating it from TEN in older children or adults. [source] Re: ,The use of iNO in the newborn period: results from the European iNO registry'ACTA PAEDIATRICA, Issue 9 2010Sergio G. Golombek No abstract is available for this article. [source] Necrotizing enterocolitis following the use of intravenous immunoglobulin for haemolytic disease of the newbornACTA PAEDIATRICA, Issue 7 2009Mariel Navarro Abstract Aim:, To describe a series of patients who received intravenous immunoglobulin (IVIg) for the treatment of neonatal hyperbilirubinaemia and developed necrotizing enterocolitis (NEC) shortly thereafter. Population and Results:, We describe three healthy breastfed newly born infants with isoimmunization-derived hyperbilirubinaemia refractory to phototherapy who were treated with IVIg. Shortly after the perfusion finished they developed clinical and radiological signs compatible with NEC and needed antibiotic therapy, prolonged parenteral nutrition and even surgery in one case. Other conditions such as septicaemia or coagulopathy were ruled out. Microscopic examination of the resected intestine revealed the presence of disseminated thrombi obstructing multiple minor vessels of the mesenteric circulation. Conclusion:, IVIg in the newborn period should be cautiously employed and always administered under strict medical control. [source] Transcatheter closure of an atrial septal defect in a newborn with aortic stenosisACTA PAEDIATRICA, Issue 3 2009Albrecht Beitzke Abstract Aim: A newborn with valvular aortic stenosis and a 5 mm atrial septal defect (ASD) underwent emergency aortic valvotomy. The small left ventricle of the newborn with signs of fibroelastosis showed good function but a reduced compliance and caused a large left to right shunt at atrial level. Methods and Results: As the patient became respirator-dependant the ASD was interventionally closed with an 18 mm Amplatzer® PFO occluder. The patient could be weaned from the ventilator within two days and had an uneventful recovery. Conclusion: Interventional closure of an ASD is possible even in the newborn period and should be considered as an alternative to surgery. [source] Does circumcision increase neonatal jaundice?ACTA PAEDIATRICA, Issue 9 2008E Ero Abstract Purpose: The aim of this study was to evaluate the effects of circumcision done during the early newborn period on the baby's feeding frequency and therefore a possible effect on serum bilirubin values. Methods: Sixty consecutive male patients, of whom 30 were circumcised, were comparatively followed. Babies born between 35 and 40 gestational weeks, weighing above 3000 g and who had no antenatal and/or perinatal problems were enrolled. Changes in weight, frequency of feeds, urination, stooling and the serum bilirubin levels were compared. Results: There was no statistically significant difference between the two groups. Conclusion: In experienced hands, newborn circumcision on the second day of life is safe, does not affect babies' feeding frequency or bowel movements on day 3, and does not increase serum bilirubin on day 4, thus does not increase the risk of neonatal jaundice. [source] | ||||||||||||||||||||||