Sebastian Sailer
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Previous Organizations / Institutes
The organizations / institutes from the scholar's other articles in the past ten years
Research Subjects
Sebastian Sailer has a total of 45 co-authors. Here are the top co-authors by number of shared publications:
- Borja Osona
Department of Pediatrics, University Hospital Son Espases, Palma de Mallorca, Spain
3 shared publications Joan Figuerola Mulet
Department of Paediatrics, Paediatric Respiratory Medicine, Balearic Islands Health Research Institute (IdISBa), Son Espases University Hospital, Palma de Mallorca, Spain
3 shared publicationsCatalina Bover Bauzà
Department of Paediatrics, Paediatric Respiratory Medicine, Balearic Islands Health Research Institute (IdISBa), Son Espases University Hospital, Palma de Mallorca, Spain
2 shared publications- Giorgia Sebastiani
Neonatology Department, Center for Maternal-Fetal and Neonatal Medicine (BCNatal), Hospital Clínic and Hospital Sant Joan de Déu, University of Barcelona
2 shared publications - Oscar Garcia-Algar
Grup de Recerca Infancia i Entorn (GRIE), Institut d’investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain
2 shared publications - Susanne Vetter-Laracy
Division of Neonatology, Department of Pediatrics, University Hospital Son Espases, Palma de Mallorca, Spain
2 shared publications
Latest Publications
- Open Access
- 11 April 2022
- Published by Wurttembergische Landesbibliothek in Zeitschrift Fur Wurttembergische Landesgeschichte
- Vol. 72, 677-678
Rezension von: Sailer, Sebastian, „Geistliche Reden“
Sebastian Sailer: „Geistliche Reden“. Eine Auswahl, neu herausgegeben und kommentiert von Konstantin Maier. Eggingen/Konstanz: Edition Isele 2012. 437 S. ISBN 978-3-86142-551-9. € 25,–
- 11 April 2022
- Published by Wurttembergische Landesbibliothek in Zeitschrift Fur Wurttembergische Landesgeschichte
- Vol. 72, 677-678
Open AccessRezension von: Sailer, Sebastian, „Geistliche Reden“
Sebastian Sailer: „Geistliche Reden“. Eine Auswahl, neu herausgegeben und kommentiert von Konstantin Maier. Eggingen/Konstanz: Edition Isele 2012. 437 S. ISBN 978-3-86142-551-9. € 25,–
- 10 September 2021
- Published by Wiley in Pediatric Pulmonology
- Vol. 56 (12) , 4001-4010
High flow nasal cannula versus standard low flow nasal oxygen during flexible bronchoscopy in children: A randomized controlled trial
Background: Hypoxemia is the most frequent complication of fiberoptic bronchoscopy (FB) in children. Guidelines recommend oxygen supplementation and conventional nasal prongs (NC) are used for this purpose. The aim of this study was to evaluate if the use of high‐flow nasal cannula therapy (HFNC) in children undergoing FB result in a lower incidence of hypoxemia than standard oxygen administration.Methods: Patients aged 1 month–16 years undergoing elective FB were included in a prospective randomized controlled, nonblinded, single‐center clinical trial and randomly assigned to receive oxygen via NC or HFNC. Patients’ baseline characteristics were recorded pre‐bronchoscopy. The primary outcome was oxygen desaturation during the procedure defined as saturation less than 94%.Results: An intention to treat analysis for 53 patients receiving NC and 51 receiving HFNC, showed HFNC patients were less likely to have hypoxemia than were NC patients (p = .011), with an absolute risk reduction of 0.27 (95% confidence interval [CI]: 0.08–0.45) and a number needed to treat of 3.75 (95% CI: 2.22–12.04). Moderate hypoxemia (SpO2 ≥ 90% and p = .012). Severe hypoxemia (SpO2 < 90% and >30 s) was not different between groups. Patients undergoing bronchoalveolar lavage (BAL) presented fewer desaturations with HFNC (p = .0003).Conclusions: HFNC offers optimized oxygenation during elective FB with a significant reduction in desaturations and can be considered for oxygen administration, especially when BAL is performed.
- 10 September 2021
- Published by Wiley in Pediatric Pulmonology
- Vol. 56 (12) , 4001-4010
High flow nasal cannula versus standard low flow nasal oxygen during flexible bronchoscopy in children: A randomized controlled trial
Background: Hypoxemia is the most frequent complication of fiberoptic bronchoscopy (FB) in children. Guidelines recommend oxygen supplementation and conventional nasal prongs (NC) are used for this purpose. The aim of this study was to evaluate if the use of high‐flow nasal cannula therapy (HFNC) in children undergoing FB result in a lower incidence of hypoxemia than standard oxygen administration.Methods: Patients aged 1 month–16 years undergoing elective FB were included in a prospective randomized controlled, nonblinded, single‐center clinical trial and randomly assigned to receive oxygen via NC or HFNC. Patients’ baseline characteristics were recorded pre‐bronchoscopy. The primary outcome was oxygen desaturation during the procedure defined as saturation less than 94%.Results: An intention to treat analysis for 53 patients receiving NC and 51 receiving HFNC, showed HFNC patients were less likely to have hypoxemia than were NC patients (p = .011), with an absolute risk reduction of 0.27 (95% confidence interval [CI]: 0.08–0.45) and a number needed to treat of 3.75 (95% CI: 2.22–12.04). Moderate hypoxemia (SpO2 ≥ 90% and p = .012). Severe hypoxemia (SpO2 < 90% and >30 s) was not different between groups. Patients undergoing bronchoalveolar lavage (BAL) presented fewer desaturations with HFNC (p = .0003).Conclusions: HFNC offers optimized oxygenation during elective FB with a significant reduction in desaturations and can be considered for oxygen administration, especially when BAL is performed.
- 1 January 2021
- Published by Walter de Gruyter GmbH in Case Reports in Perinatal Medicine
- Vol. 10 (1)
Parenteral nutrition extravasation into the abdominal wall mimicking an abscess
Objectives: Peripherally inserted central catheters (PICC) are used in the neonatal intensive care unit (NICU) setting for medication and nutrition administration. PICCs are easy to place and may remain inserted up to several weeks. Serious complications are rare. Cases of infection, dysfunction, thrombosis, malposition into other vessels, catheter migration, vessel erosion, perforation into pleura, pericardium, abdomen and even into the epidural space with extravasation have been reported [1, 2]. Case presentation: We present the case of a preterm infant with a right leg inserted PICC with the tip supposedly being placed in the external iliac vein with further catheter migration into the abdominal wall during the course of treatment. Conclusions: Our patient developed extravasation of lipid infusion, which was initially misinterpreted as an abscess due to signs of local inflammation.
- 1 January 2021
- Published by Walter de Gruyter GmbH in Case Reports in Perinatal Medicine
- Vol. 10 (1)
Parenteral nutrition extravasation into the abdominal wall mimicking an abscess
Objectives: Peripherally inserted central catheters (PICC) are used in the neonatal intensive care unit (NICU) setting for medication and nutrition administration. PICCs are easy to place and may remain inserted up to several weeks. Serious complications are rare. Cases of infection, dysfunction, thrombosis, malposition into other vessels, catheter migration, vessel erosion, perforation into pleura, pericardium, abdomen and even into the epidural space with extravasation have been reported [1, 2]. Case presentation: We present the case of a preterm infant with a right leg inserted PICC with the tip supposedly being placed in the external iliac vein with further catheter migration into the abdominal wall during the course of treatment. Conclusions: Our patient developed extravasation of lipid infusion, which was initially misinterpreted as an abscess due to signs of local inflammation.
- Open Access
Probiotic Supplementation during the Perinatal and Infant Period: Effects on gut Dysbiosis and Disease
The perinatal period is crucial to the establishment of lifelong gut microbiota. The abundance and composition of microbiota can be altered by several factors such as preterm delivery, formula feeding, infections, antibiotic treatment, and lifestyle during pregnancy. Gut dysbiosis affects the development of innate and adaptive immune responses and resistance to pathogens, promoting atopic diseases, food sensitization, and infections such as necrotizing enterocolitis (NEC). Recent studies have indicated that the gut microbiota imbalance can be restored after a single or multi-strain probiotic supplementation, especially mixtures of Lactobacillus and Bifidobacterium strains. Following the systematic search methodology, the current review addresses the importance of probiotics as a preventive or therapeutic tool for dysbiosis produced during the perinatal and infant period. We also discuss the safety of the use of probiotics in pregnant women, preterm neonates, or infants for the treatment of atopic diseases and infections.
Open AccessProbiotic Supplementation during the Perinatal and Infant Period: Effects on gut Dysbiosis and Disease
The perinatal period is crucial to the establishment of lifelong gut microbiota. The abundance and composition of microbiota can be altered by several factors such as preterm delivery, formula feeding, infections, antibiotic treatment, and lifestyle during pregnancy. Gut dysbiosis affects the development of innate and adaptive immune responses and resistance to pathogens, promoting atopic diseases, food sensitization, and infections such as necrotizing enterocolitis (NEC). Recent studies have indicated that the gut microbiota imbalance can be restored after a single or multi-strain probiotic supplementation, especially mixtures of Lactobacillus and Bifidobacterium strains. Following the systematic search methodology, the current review addresses the importance of probiotics as a preventive or therapeutic tool for dysbiosis produced during the perinatal and infant period. We also discuss the safety of the use of probiotics in pregnant women, preterm neonates, or infants for the treatment of atopic diseases and infections.
- 2 March 2020
- Published by Wiley in Acta Paediatrica
- Vol. 109 (11) , 2287-2291
Assessment of portable oxygen concentrators in infants undergoing hypoxic challenge testing. A randomised controlled crossover trial
Aim Due to reduced PaO2, aircrafts at cruising altitudes are pressurized to a cabin altitude of 2438m, equivalent to breathing FiO2 0.15. Portable oxygen concentrators (POCs) are approved for onboard oxygen supply with lack of evidence, especially in infants. We assessed POCs (continuous‐flow cPOC vs. pulsed‐flow pPOC) under simulated altitude conditions performing Hypoxic Challenge Testing (HCT). Methods In a randomized‐controlled‐crossover‐trial, we included patients <1 year born prematurely. In incidents of hypoxia (SpO2 ≤85%), oxygen was administered through POC. In patients with a positive hypoxia reversal, HCT was repeated 24 hours later. If hypoxia occurred during the second testing, oxygen was given using the alternative POC. Results We randomized 26 patients; 22 patients received allocated intervention (4 dropped out). Mean gestational age 30.4 weeks, mean corrected age 38.2 weeks. Both POCs achieved immediate hypoxia reversal in all cases (SpO2 cPOC/pPOC 98%/99.4% (95%CI ‐2.91,.01)) without any adverse events. No significant difference was observed in patients with BPD. Conclusion Both POCs generated sufficient oxygen to reverse HCT induced hypoxia. Although pPOCs are not recommend in paediatric age, our data suggest their effectiveness even in neonates without any associated adverse events. Future research on pPOCs safety is required to establish recommendations for their use.
- 2 March 2020
- Published by Wiley in Acta Paediatrica
- Vol. 109 (11) , 2287-2291
Assessment of portable oxygen concentrators in infants undergoing hypoxic challenge testing. A randomised controlled crossover trial
Aim Due to reduced PaO2, aircrafts at cruising altitudes are pressurized to a cabin altitude of 2438m, equivalent to breathing FiO2 0.15. Portable oxygen concentrators (POCs) are approved for onboard oxygen supply with lack of evidence, especially in infants. We assessed POCs (continuous‐flow cPOC vs. pulsed‐flow pPOC) under simulated altitude conditions performing Hypoxic Challenge Testing (HCT). Methods In a randomized‐controlled‐crossover‐trial, we included patients <1 year born prematurely. In incidents of hypoxia (SpO2 ≤85%), oxygen was administered through POC. In patients with a positive hypoxia reversal, HCT was repeated 24 hours later. If hypoxia occurred during the second testing, oxygen was given using the alternative POC. Results We randomized 26 patients; 22 patients received allocated intervention (4 dropped out). Mean gestational age 30.4 weeks, mean corrected age 38.2 weeks. Both POCs achieved immediate hypoxia reversal in all cases (SpO2 cPOC/pPOC 98%/99.4% (95%CI ‐2.91,.01)) without any adverse events. No significant difference was observed in patients with BPD. Conclusion Both POCs generated sufficient oxygen to reverse HCT induced hypoxia. Although pPOCs are not recommend in paediatric age, our data suggest their effectiveness even in neonates without any associated adverse events. Future research on pPOCs safety is required to establish recommendations for their use.
- Open Access
- 14 December 2019
- Published by MDPI AG in International Journal of Environmental Research and Public Health
- Vol. 16 (24) , 5113
Impact of Nicotine Replacement and Electronic Nicotine Delivery Systems on Fetal Brain Development
Maternal tobacco smoking during pregnancy remains a major public health issue. The neurotoxic properties of nicotine are associated with fetal neurodevelopmental disorders and perinatal morbimortality. Recent research has demonstrated the effects of nicotine toxicity on genetic and epigenetic alterations. Smoking cessation strategies including nicotine replacement therapy (NRT) and electronic nicotine delivery systems (ENDS) show lack of clear evidence of effectiveness and safety in pregnant women. Limited trials using randomized controls concluded that the intermittent use formulation of NRT (gum, sprays, inhaler) in pregnant women is safe because the total dose of nicotine delivered to the fetus is less than continuous-use formulations (transdermal patch). Electronic nicotine delivery systems (ENDS) were hyped as a safer alternative during pregnancy. However, refill liquids of ENDS are suspected to be cytotoxic for the fetus. Animal studies revealed the impact of ENDS on neural stem cells, showing a similar risk of pre- and postnatal neurobiological and neurobehavioral disorders to that associated with the exposure to traditional tobacco smoking during early life. There is currently no clear evidence of impact on fetal brain development, but recent research suggests that the current guidelines should be reconsidered. The safety of NRT and ENDS is increasingly being called into question. In this review, we discuss the special features (pharmacodynamics, pharmacokinetics, and metabolism) of nicotine, NRT, and ENDS during pregnancy and postnatal environmental exposure. Further, we assess their impact on pre- and postnatal neurodevelopment.
- 14 December 2019
- Published by MDPI AG in International Journal of Environmental Research and Public Health
- Vol. 16 (24) , 5113
Open AccessImpact of Nicotine Replacement and Electronic Nicotine Delivery Systems on Fetal Brain Development
Maternal tobacco smoking during pregnancy remains a major public health issue. The neurotoxic properties of nicotine are associated with fetal neurodevelopmental disorders and perinatal morbimortality. Recent research has demonstrated the effects of nicotine toxicity on genetic and epigenetic alterations. Smoking cessation strategies including nicotine replacement therapy (NRT) and electronic nicotine delivery systems (ENDS) show lack of clear evidence of effectiveness and safety in pregnant women. Limited trials using randomized controls concluded that the intermittent use formulation of NRT (gum, sprays, inhaler) in pregnant women is safe because the total dose of nicotine delivered to the fetus is less than continuous-use formulations (transdermal patch). Electronic nicotine delivery systems (ENDS) were hyped as a safer alternative during pregnancy. However, refill liquids of ENDS are suspected to be cytotoxic for the fetus. Animal studies revealed the impact of ENDS on neural stem cells, showing a similar risk of pre- and postnatal neurobiological and neurobehavioral disorders to that associated with the exposure to traditional tobacco smoking during early life. There is currently no clear evidence of impact on fetal brain development, but recent research suggests that the current guidelines should be reconsidered. The safety of NRT and ENDS is increasingly being called into question. In this review, we discuss the special features (pharmacodynamics, pharmacokinetics, and metabolism) of nicotine, NRT, and ENDS during pregnancy and postnatal environmental exposure. Further, we assess their impact on pre- and postnatal neurodevelopment.
- 28 September 2019
- Published by European Respiratory Society (ERS) in European Respiratory Journal
- Vol. 54 (suppl 63) , PA4983
Assessment of portable oxygen concentrators to revert induced hypoxia by hypoxic challenge testing in paediatric patients. A comparative study between continuous flow and pulse flow delivery systems
Introduction: Commercial aircrafts at cruising altitude are pressurized to a cabin altitude of 2438 m (≙ FiO2 0.15). To evaluate hypoxic inflight risk Hypoxic Challenge Testing (HCT) is recommend whereby oxygen requirements can be titrated. Portable oxygen concentrators (POCs) are approved for onboard use but there is lack of evidence about the use especially in children. Pulse flow POCs are designed for adults and therefore not recommended in paediatric age. We tested the effectiveness and safety of POCs during HCT. Material and Methods: Prospective interventional crossover study. N=26 infants (mean gestational age 30.4 weeks) who underwent HCT. Tested POCs: SeQal-Eclipse3® continuous flow and InogenOne® pulse flow. In case of Sat.O2 ≤ 85 %, oxygen was administered through POC. Results: 22 ex-preterm patients were included (4 dropped out). Both POCs achieved immediate reversal of hypoxia in all cases without associating adverse events. No significant difference was observed between preterm patients +/- bronchopulmonary dysplasia concerning hypoxic recovery. Discussion: We present the results of a pilot study evaluating POCs effectiveness to revert hypoxia induced by HCT in children. Previous studies tested POCs in adults (mountain, hypobaric chamber) where all tested POCs achieved sufficient oxygen output. Our study also demonstrates that POCs are able to sense patient inspiration even in preterm babies. We conclude that POCs generate sufficient oxygen to revert HCT induced hypoxia and should be considered as a valid delivery method for inflight oxygen supply.
- 28 September 2019
- Published by European Respiratory Society (ERS) in European Respiratory Journal
- Vol. 54 (suppl 63) , PA4983
Assessment of portable oxygen concentrators to revert induced hypoxia by hypoxic challenge testing in paediatric patients. A comparative study between continuous flow and pulse flow delivery systems
Introduction: Commercial aircrafts at cruising altitude are pressurized to a cabin altitude of 2438 m (≙ FiO2 0.15). To evaluate hypoxic inflight risk Hypoxic Challenge Testing (HCT) is recommend whereby oxygen requirements can be titrated. Portable oxygen concentrators (POCs) are approved for onboard use but there is lack of evidence about the use especially in children. Pulse flow POCs are designed for adults and therefore not recommended in paediatric age. We tested the effectiveness and safety of POCs during HCT. Material and Methods: Prospective interventional crossover study. N=26 infants (mean gestational age 30.4 weeks) who underwent HCT. Tested POCs: SeQal-Eclipse3® continuous flow and InogenOne® pulse flow. In case of Sat.O2 ≤ 85 %, oxygen was administered through POC. Results: 22 ex-preterm patients were included (4 dropped out). Both POCs achieved immediate reversal of hypoxia in all cases without associating adverse events. No significant difference was observed between preterm patients +/- bronchopulmonary dysplasia concerning hypoxic recovery. Discussion: We present the results of a pilot study evaluating POCs effectiveness to revert hypoxia induced by HCT in children. Previous studies tested POCs in adults (mountain, hypobaric chamber) where all tested POCs achieved sufficient oxygen output. Our study also demonstrates that POCs are able to sense patient inspiration even in preterm babies. We conclude that POCs generate sufficient oxygen to revert HCT induced hypoxia and should be considered as a valid delivery method for inflight oxygen supply.
- 1 April 2019
- Published by Georg Thieme Verlag KG in Klinische Padiatrie
- Vol. 231 (04) , 212-213
Factitious Hyperlithemia: Why Lithium Heparin Blood Tubes may get you in Trouble
Lithium carbonate administration in patients suffering from bipolar disorders was first introduced in the mid-19th century and later, in 1970, approved by the U.S. Food and Drug Administration (category D). There is still lack of data regarding the prevalence of lithium treatment during pregnancy. An epidemiologic study conducted in the United Kingdom in 2012 showed low prevalence (0.015%), which remained steady between 1995 and 2012. The majority of patients discontinued medication by the 6th week of pregnancy (McCrea RL et al., PloS One 2015; 10). Lithium blood levels (LBL) at birth are equal in newborn and maternal blood due to unrestricted placental barrier diffusion. Lithium has a narrow therapeutic window and levels are routinely monitored with a range from 0.6 to 1.2 mmol/l. Toxicity occurs at blood levels>1.5 mmol/l or lower in patients who have received chronic treatment. Lithium intoxication causes severe neurological and renal symptoms (Arslan Z et al., Paediatr Int Child Health 2016; 36: 240–242). Volume restoration in case of depletion and hemodialysis is the treatment of choice. There is no antidote for lithium. Teratogenic properties, reported in previous studies, have recently been questioned. It remains unclear if lithium treatment causes congenital heart disease (esp. Ebsteinʼs anomaly) or non-cardiac (neuromuscular, thyroid and renal) disorders. No long-term lithium-related side effects have been described in newborns without malformations (Patorno E et al., N Engl J Med 2017; 376: 2245–2254). Transient symptoms including neurosensory deficit (lethargy, floppiness, oral feeding difficulties, weak suckling reflex), respiratory distress or apnea, bradycardia, arrhythmias were reported (Kozma C et al., Am J Med Genet A 2005; 132: 441–444). In neonatal care there is still a lack of experience monitoring LBL, which can lead to diagnostic and therapeutic errors. We present a case report of factitious hyperlithemia in a newborn whose mother received lithium treatment during pregnancy.
- 1 April 2019
- Published by Georg Thieme Verlag KG in Klinische Padiatrie
- Vol. 231 (04) , 212-213
Factitious Hyperlithemia: Why Lithium Heparin Blood Tubes may get you in Trouble
Lithium carbonate administration in patients suffering from bipolar disorders was first introduced in the mid-19th century and later, in 1970, approved by the U.S. Food and Drug Administration (category D). There is still lack of data regarding the prevalence of lithium treatment during pregnancy. An epidemiologic study conducted in the United Kingdom in 2012 showed low prevalence (0.015%), which remained steady between 1995 and 2012. The majority of patients discontinued medication by the 6th week of pregnancy (McCrea RL et al., PloS One 2015; 10). Lithium blood levels (LBL) at birth are equal in newborn and maternal blood due to unrestricted placental barrier diffusion. Lithium has a narrow therapeutic window and levels are routinely monitored with a range from 0.6 to 1.2 mmol/l. Toxicity occurs at blood levels>1.5 mmol/l or lower in patients who have received chronic treatment. Lithium intoxication causes severe neurological and renal symptoms (Arslan Z et al., Paediatr Int Child Health 2016; 36: 240–242). Volume restoration in case of depletion and hemodialysis is the treatment of choice. There is no antidote for lithium. Teratogenic properties, reported in previous studies, have recently been questioned. It remains unclear if lithium treatment causes congenital heart disease (esp. Ebsteinʼs anomaly) or non-cardiac (neuromuscular, thyroid and renal) disorders. No long-term lithium-related side effects have been described in newborns without malformations (Patorno E et al., N Engl J Med 2017; 376: 2245–2254). Transient symptoms including neurosensory deficit (lethargy, floppiness, oral feeding difficulties, weak suckling reflex), respiratory distress or apnea, bradycardia, arrhythmias were reported (Kozma C et al., Am J Med Genet A 2005; 132: 441–444). In neonatal care there is still a lack of experience monitoring LBL, which can lead to diagnostic and therapeutic errors. We present a case report of factitious hyperlithemia in a newborn whose mother received lithium treatment during pregnancy.
- 5 December 2018
- Published by Georg Thieme Verlag KG in Klinische Padiatrie
- Vol. 231 (02) , 93-95
Pallister-Killian Syndrome: The Diagnosis is in the Detail
Pallister-Killian syndrome (PKS; OMIM 601803) was first described in 1977 by the American physician Philip Pallister and later in 1981 by the Austrian physician Wolfgang Killian. PKS is a rare chromosomal disorder due to a sporadic mosaic tetrasomy of the short arm of isochromosome 12 (i12p). Hexasomic forms (2 isochromosomes) or the presence of a ring chromosome have been described. Prenatal ultrasound may show polyhydramnios, rhizomelic micromelia or macrosomia (Lloveras E et al., Fetal Diagn Ther 2013; 34: 172–175). Main clinical features in the newborn are hypotonia, feeding difficulties, pigmentary skin anomalies and seizures but physical head exam may give the clue for diagnosis. Hypertelorism, small nose, long philtrum, V-shaped upper lip (“Pallister lip”), low set posteriorly rotated ears, bilateral frontotemporal alopecia and a coarse facies (more pronounced with age) are characteristic for PKS. Further congenital cardiac defects, diaphragmatic hernia, renal or anal malformations may be associated. A phenotypical study of 22 PKS patients showed that profound intellectual disability is not universal, a considerable percentage of patients presented mild or moderate disability (Blyth M et al., J Med Genet 2015; 52: 454–464). Increased maternal age is an independent risk factor for PKS. i12p can be detected prenatally in chorionic villus and amniotic fluid cell samples or later in lymphocytes and skin fibroblast cultures. No evidence of genotype-phenotype correlation was found in PKS (Doray B et al., Prenat Diagn 2002; 22: 470–477). We describe a clinical case of PKS in a late premature patient without prenatal diagnosis. The mother has given written consent for the publication.
- 5 December 2018
- Published by Georg Thieme Verlag KG in Klinische Padiatrie
- Vol. 231 (02) , 93-95
Pallister-Killian Syndrome: The Diagnosis is in the Detail
Pallister-Killian syndrome (PKS; OMIM 601803) was first described in 1977 by the American physician Philip Pallister and later in 1981 by the Austrian physician Wolfgang Killian. PKS is a rare chromosomal disorder due to a sporadic mosaic tetrasomy of the short arm of isochromosome 12 (i12p). Hexasomic forms (2 isochromosomes) or the presence of a ring chromosome have been described. Prenatal ultrasound may show polyhydramnios, rhizomelic micromelia or macrosomia (Lloveras E et al., Fetal Diagn Ther 2013; 34: 172–175). Main clinical features in the newborn are hypotonia, feeding difficulties, pigmentary skin anomalies and seizures but physical head exam may give the clue for diagnosis. Hypertelorism, small nose, long philtrum, V-shaped upper lip (“Pallister lip”), low set posteriorly rotated ears, bilateral frontotemporal alopecia and a coarse facies (more pronounced with age) are characteristic for PKS. Further congenital cardiac defects, diaphragmatic hernia, renal or anal malformations may be associated. A phenotypical study of 22 PKS patients showed that profound intellectual disability is not universal, a considerable percentage of patients presented mild or moderate disability (Blyth M et al., J Med Genet 2015; 52: 454–464). Increased maternal age is an independent risk factor for PKS. i12p can be detected prenatally in chorionic villus and amniotic fluid cell samples or later in lymphocytes and skin fibroblast cultures. No evidence of genotype-phenotype correlation was found in PKS (Doray B et al., Prenat Diagn 2002; 22: 470–477). We describe a clinical case of PKS in a late premature patient without prenatal diagnosis. The mother has given written consent for the publication.
- 27 March 2018
- Published by Georg Thieme Verlag KG in Klinische Padiatrie
- Vol. 230 (05) , 278-280
Neonatal Listeriosis and The Importance of Body Surface Cultures
Listeria monocytogenes (Lm) is a gram-positive bacillus which causes neonatal listeriosis (NL). NL is caused by vertical transmission (transplacental, ascending or birth canal related) or less frequently by nosocomial infection. In healthy people, Lm infections may be asymptomatic or cause unspecific flu-like or gastrointestinal symptoms. However, in immunocompromised patients including elderly people, pregnant women or neonates, Lm may cause fatal infections. Mortality can be high (up to 45%), as can be the rate of neurologic complications (Siegman-Igra Y et al., Emerg. Infect. Dis. 2002; 8: 305–310). In 2014, the European Centre for Disease Prevention and Control (ECDC) reported 2.194 listeriosis cases (case rate 0.6/100.000 population) with highest rates in infants below one year of age (case rate 2.8/100.000 population) observing rising tendency. In that year, 161 of the cases (all age groups) were declared in Spain (case rate 1.2/100.000 population) (Annual Epidemiological Report - Listeria, ECDC 2016). On the other hand, spontaneous abortions and stillbirths wrongly not related with Lm may underestimate real prevalence. In neonates, Lm can cause 2 different patterns of disease. First, an early-onset disease due to vertical infection (serotypes 1a, 1b 4b) associated with premature birth, meconium staining of amniotic fluid (MSAF) and sepsis. Second, a late-onset disease due to vertical or nosocomial infection (serotypes 4b) and most common in term babies causing meningitis. Microbiological detection can be challenging as the poor specificity of blood cultures and Cerebral Spinal Fluid (CSF) cultures. Clinical guidelines for neonatal early-onset sepsis (EOS) evaluation do not recommend or pay little attention to body surface cultures (BSC) (Centers for Disease Control and Prevention. MMWR 2010; 59: 1–23), (Polin R et al., Pediatrics 2012; 129: 1006–1015). In cases of suspected EOS we perform BSC routinely in our neonatal tertiary care unit. In this report we evaluate NL biological testing with focus on BSC.
- 27 March 2018
- Published by Georg Thieme Verlag KG in Klinische Padiatrie
- Vol. 230 (05) , 278-280
Neonatal Listeriosis and The Importance of Body Surface Cultures
Listeria monocytogenes (Lm) is a gram-positive bacillus which causes neonatal listeriosis (NL). NL is caused by vertical transmission (transplacental, ascending or birth canal related) or less frequently by nosocomial infection. In healthy people, Lm infections may be asymptomatic or cause unspecific flu-like or gastrointestinal symptoms. However, in immunocompromised patients including elderly people, pregnant women or neonates, Lm may cause fatal infections. Mortality can be high (up to 45%), as can be the rate of neurologic complications (Siegman-Igra Y et al., Emerg. Infect. Dis. 2002; 8: 305–310). In 2014, the European Centre for Disease Prevention and Control (ECDC) reported 2.194 listeriosis cases (case rate 0.6/100.000 population) with highest rates in infants below one year of age (case rate 2.8/100.000 population) observing rising tendency. In that year, 161 of the cases (all age groups) were declared in Spain (case rate 1.2/100.000 population) (Annual Epidemiological Report - Listeria, ECDC 2016). On the other hand, spontaneous abortions and stillbirths wrongly not related with Lm may underestimate real prevalence. In neonates, Lm can cause 2 different patterns of disease. First, an early-onset disease due to vertical infection (serotypes 1a, 1b 4b) associated with premature birth, meconium staining of amniotic fluid (MSAF) and sepsis. Second, a late-onset disease due to vertical or nosocomial infection (serotypes 4b) and most common in term babies causing meningitis. Microbiological detection can be challenging as the poor specificity of blood cultures and Cerebral Spinal Fluid (CSF) cultures. Clinical guidelines for neonatal early-onset sepsis (EOS) evaluation do not recommend or pay little attention to body surface cultures (BSC) (Centers for Disease Control and Prevention. MMWR 2010; 59: 1–23), (Polin R et al., Pediatrics 2012; 129: 1006–1015). In cases of suspected EOS we perform BSC routinely in our neonatal tertiary care unit. In this report we evaluate NL biological testing with focus on BSC.