Acro-cardio-facial syndrome

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families. The more appropriate recurrence risk of transmitting the disease for the parents of an affected child seems to be up to one in four. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor

Increased oxidative stress and altered activities of erythrocyte free radical scavenging enzymes in autism

There is great evidence in recent years that oxygen free radicals play an important role in the pathophysiology of many neuropsychiatric disorders. The present study was performed to assess the changes in red blood cells thiobarbituric acid-reactive substances (TBARS) levels, and Superoxide dismutase (SOD), catalase (CAT), adenosine deaminase (ADA) and xanthine oxidase (XO) activities in patients with autism (n = 27) compared to age- and sex-matched normal controls (n = 26). In the autistic group, increased TBARS levels (p < 0.001) and XO (p < 0.001) and SOD (p < 0.001) activity, decreased CAT (p < 0.001) activity and unchanged ADA activity were detected. It is proposed that antioxidant status may be changed in autism and this new situation may induce lipid peroxidation. These findings indicated a possible role of increased oxidative stress and altered enzymatic antioxidants, both of which may be relevant to the pathophysiology of autism

Increased oxidative stress and altered activities of erythrocyte free radical scavenging enzymes in autism

There is great evidence in recent years that oxygen free radicals play an important role in the pathophysiology of many neuropsychiatric disorders. The present study was performed to assess the changes in red blood cells thiobarbituric acid-reactive substances (TBARS) levels, and superoxide dismutase (SOD), catalase (CAT), adenosine deaminase (ADA) and xanthine oxidase (XO) activities in patients with autism (n = 27) compared to age- and sex-matched normal controls (n = 26). In the autistic group, increased TBARS levels (p < 0.001) and XO (p < 0.001) and SOD (p < 0.001) activity, decreased CAT (p < 0.001) activity and unchanged ADA activity were detected. It is proposed that antioxidant status may be changed in autism and this new situation may induce lipid peroxidation. These findings indicated a possible role of increased oxidative stress and altered enzymatic antioxidants, both of which may be relevant to the pathophysiology of autism

Outcome of the Respiratory Syncytial Virus related acute lower respiratory tract infection among hospitalized newborns: A prospective multicenter study

PubMed ID: 26365531Aim: To determine the incidence and outcomes of respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (ALRI) including morbidity, nosocomial infection and mortality among newborn infants who were admitted to the neonatal intensive care units (NICUs).Methods: A multicenter, prospective study was conducted in newborns who were hospitalized with community acquired or nosocomial RSV infection in 44 NICUs throughout Turkey. Newborns with ALRI were screened for RSV infection by Respi-Strip®-test. Main outcome measures were the incidence of RSV-associated admissions in the NICUs and morbidity, mortality and epidemics results related to these admissions.Findings: The incidence of RSV infection was 1.24% (n: 250) and RSV infection constituted 19.6% of all ALRI hospitalizations, 226 newborns (90.4%) had community-acquired whereas 24 (9.6%) patients had nosocomial RSV infection in the NICUs. Of the 250 newborns, 171 (68.4%) were full-term infants, 183 (73.2%) had a BW >2500 g. RSV-related mortality rate was 1.2%. Four NICUs reported seven outbreaks on different months, which could be eliminated by palivizumab prophylaxis in one NICU.Conclusion: RSV-associated ALRI both in preterm and term infants accounts an important percent of hospitalizations in the season, and may threat other high-risk patients in the NICU. © 2015 Taylor & Francis

Outcome of the Respiratory Syncytial Virus related acute lower respiratory tract infection among hospitalized newborns: A prospective multicenter study

PubMed ID: 26365531Aim: To determine the incidence and outcomes of respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (ALRI) including morbidity, nosocomial infection and mortality among newborn infants who were admitted to the neonatal intensive care units (NICUs).Methods: A multicenter, prospective study was conducted in newborns who were hospitalized with community acquired or nosocomial RSV infection in 44 NICUs throughout Turkey. Newborns with ALRI were screened for RSV infection by Respi-Strip®-test. Main outcome measures were the incidence of RSV-associated admissions in the NICUs and morbidity, mortality and epidemics results related to these admissions.Findings: The incidence of RSV infection was 1.24% (n: 250) and RSV infection constituted 19.6% of all ALRI hospitalizations, 226 newborns (90.4%) had community-acquired whereas 24 (9.6%) patients had nosocomial RSV infection in the NICUs. Of the 250 newborns, 171 (68.4%) were full-term infants, 183 (73.2%) had a BW >2500 g. RSV-related mortality rate was 1.2%. Four NICUs reported seven outbreaks on different months, which could be eliminated by palivizumab prophylaxis in one NICU.Conclusion: RSV-associated ALRI both in preterm and term infants accounts an important percent of hospitalizations in the season, and may threat other high-risk patients in the NICU. © 2015 Taylor & Francis

Incidence and severity of retinopathy of prematurity in Turkey

Background: The purpose of this study was to estimate the current incidence of retinopathy of prematurity (ROP) and the need for treatment in preterm infants in Turkey. Methods: The study included preterm infants who had been screened for ROP between 2011 and 2013 in 49 neonatal intensive care units. Infants with birth weight (BW) ≤1500 g or ≤32 weeks' gestational age and those with BW >1500 g or >32 weeks' GA with an unstable clinical course were included. The incidence of any ROP or severe ROP and treatment modalities were determined. Results: The study population included 15 745 preterm infants: 11 803 (75%) with GA ≤32 weeks, and 3942 (25%) with GA >32 weeks. Overall, 30% were found to have any stage of ROP, and 5% had severe ROP. Severe ROP was diagnosed in 8.2% of infants with BW ≤1500 g and 0.6% of infants with BW >1500 g. Of all infants diagnosed with ROP, 16.5% needed laser photocoagulation, and 20 patients born at >32 weeks' GA required this treatment modality. Vitroretinal surgery was performed in 28 infants with severe ROP: 23 with GA ≤28 weeks and 5 with GA 29-32 weeks. Conclusions: The findings of our study have the important implication that more mature babies are at risk of severe ROP requiring treatment. An effective programme for detecting and treating ROP should be established in Turkey

Outcome of the Respiratory Syncytial Virus related acute lower respiratory tract infection among hospitalized newborns: A prospective multicenter study

© 2015 Taylor & Francis.Aim: To determine the incidence and outcomes of respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (ALRI) including morbidity, nosocomial infection and mortality among newborn infants who were admitted to the neonatal intensive care units (NICUs).Methods: A multicenter, prospective study was conducted in newborns who were hospitalized with community acquired or nosocomial RSV infection in 44 NICUs throughout Turkey. Newborns with ALRI were screened for RSV infection by Respi-Strip®-test. Main outcome measures were the incidence of RSV-associated admissions in the NICUs and morbidity, mortality and epidemics results related to these admissions.Findings: The incidence of RSV infection was 1.24% (n: 250) and RSV infection constituted 19.6% of all ALRI hospitalizations, 226 newborns (90.4%) had community-acquired whereas 24 (9.6%) patients had nosocomial RSV infection in the NICUs. Of the 250 newborns, 171 (68.4%) were full-term infants, 183 (73.2%) had a BW >2500 g. RSV-related mortality rate was 1.2%. Four NICUs reported seven outbreaks on different months, which could be eliminated by palivizumab prophylaxis in one NICU.Conclusion: RSV-associated ALRI both in preterm and term infants accounts an important percent of hospitalizations in the season, and may threat other high-risk patients in the NICU

Incidence and severity of retinopathy of prematurity in Turkey

PubMed ID: 25868788Background: The purpose of this study was to estimate the current incidence of retinopathy of prematurity (ROP) and the need for treatment in preterm infants in Turkey. Methods: The study included preterm infants who had been screened for ROP between 2011 and 2013 in 49 neonatal intensive care units. Infants with birth weight (BW) ?1500 g or ?32 weeks' gestational age and those with BW >1500 g or >32 weeks' GA with an unstable clinical course were included. The incidence of any ROP or severe ROP and treatment modalities were determined. Results: The study population included 15 745 preterm infants: 11 803 (75%) with GA ?32 weeks, and 3942 (25%) with GA >32 weeks. Overall, 30% were found to have any stage of ROP, and 5% had severe ROP. Severe ROP was diagnosed in 8.2% of infants with BW ?1500 g and 0.6% of infants with BW >1500 g. Of all infants diagnosed with ROP, 16.5% needed laser photocoagulation, and 20 patients born at >32 weeks' GA required this treatment modality. Vitroretinal surgery was performed in 28 infants with severe ROP: 23 with GA ?28 weeks and 5 with GA 29-32 weeks. Conclusions: The findings of our study have the important implication that more mature babies are at risk of severe ROP requiring treatment. An effective programme for detecting and treating ROP should be established in Turkey