Acalvaria: a case report of a rare congenital malformation and a review of the literature.

Unlabelled: Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the literature is quite low, and it is generally considered a fatal malformation. We present a case of a newborn diagnosed with acalvaria malformation along with a review of the literature, emphasizing the importance of distinguishing this rare condition from malformations such as anencephaly, exencephaly and acrania.

Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project.

Background: Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research.

Methods: All 20 pediatric and adult Swiss CF centers participated in a data quality audit between 2018 and 2020, and in a re-audit in 2022.

Online breath analysis with SESI/HRMS for metabolic signatures in children with allergic asthma.

There is a need to improve the diagnosis and management of pediatric asthma. Breath analysis aims to address this by non-invasively assessing altered metabolism and disease-associated processes. Our goal was to identify exhaled metabolic signatures that distinguish children with allergic asthma from healthy controls using secondary electrospray ionization high-resolution mass spectrometry (SESI/HRMS) in a cross-sectional observational study.

Cu(II) complex with auxin (3-indoleacetic acid) and an aromatic planar ligand: synthesis, crystal structure, biomolecular interactions and radical scavenging activity.

A novel water soluble ternary copper(II) complex,-[Cu(phen)(3-IAA)(HO)](ClO)·HO-(phen: 1,10-phenanthroline, 3-IAA: 3-indoleacetic acid), has been synthesized and characterized by elemental CHN analysis, ESI-TOF, FTIR and single-crystal X-ray diffraction techniques. Interaction of the complex with calf thymus DNA (CT-DNA) has been investigated by absorption spectral titration, ethidium bromide (EB) and Hoechst 33258 displacement assay. The interactions between the complex and bovine serum albumin (BSA) were investigated by electronic absorption and fluorescence spectroscopy methods.

A potent drug candidature of Cu(II) pyrazino[2,3-f][1,10]phenanthroline complexes with bioactive ligands: synthesis, crystal structures, biomolecular interactions, radical scavenging and cytotoxicities.

A novel ternary copper(II) complexes, - [Cu(py-phen)(asn)(NO)(HO)] () and [Cu(py-phen)(trp)(HO)]NO ()- (py-phen: pyrazino[2,3-f][1,10]phenanthroline, asn: asparagine, trp: tryptophan), have been synthesized and characterized by CHN analysis, ESI-MS, FTIR and single-crystal X-ray diffraction techniques. Interaction of the complexes and with CT-DNA has been investigated by absorption spectral titration, EB and Hoechst 33258 displacement assay. The interaction between the complexes and and BSA was investigated by electronic absorption and fluorescence spectroscopy methods.

Volatile organic compound breath signatures of children with cystic fibrosis by real-time SESI-HRMS.

Early pulmonary infection and inflammation result in irreversible lung damage and are major contributors to cystic fibrosis (CF)-related morbidity. An easy to apply and noninvasive assessment for the timely detection of disease-associated complications would be of high value. We aimed to detect volatile organic compound (VOC) breath signatures of children with CF by real-time secondary electrospray ionisation high-resolution mass spectrometry (SESI-HRMS).

New binary copper(II) complexes containing intercalating ligands: DNA interactions, an unusual static quenching mechanism of BSA and cytotoxic activities.

New binary copper(II) complexes - [Cu(4-mphen)(NO)]NO·HO (1), [Cu(5-mphen) (NO)]NO·HO (2), the known complex [Cu(dmphen)(NO)]NO (3) and [Cu(tmphen) (NO)]NO·HO (4) - (4-mphen: 4-methyl-1,10-phenanthroline, 5-mphen: 5-methyl-1,10-phenanthroline, dmphen: 4,7-dimethyl-1,10-phenanthroline, tmphen: 3,4,7,8-tetramethyl-1,10-phenanthroline), have been synthesized and characterized by CHN analysis, ESI-MS, FTIR and single-crystal X-ray diffraction techniques. Interaction of these complexes with calf thymus DNA (CT-DNA) has been investigated by absorption spectral titration, ethidium bromide (EB) and Hoechst 33,258 displacement assay and thermal denaturation measurement. These complexes cleaved pUC19 plasmid DNA in the absence and presence of an external agent.

Reported Exercise-Related Respiratory Symptoms and Exercise-Induced Bronchoconstriction in Asthmatic Children.

Background: Unlimited physical activity is one of the key issues of asthma control and management. We investigated how reliable reported exercise-related respiratory symptoms (ERRS) are in predicting exercise-induced bronchoconstriction (EIB) in asthmatic children.

Methods: In this prospective study, 179 asthmatic children aged 7 - 15 years were asked for specific questions on respiratory symptoms related to exercise and allocated into two groups according to whether they complained about symptoms.

Synthesis and crystal structures of novel copper(II) complexes with glycine and substituted phenanthrolines: reactivity towards DNA/BSA and in vitro cytotoxic and antimicrobial evaluation.

New copper(II) complexes-dimeric-[Cu(nphen)(gly)(HO)] (1) and [Cu(dmphen)(gly)(NO)(HO)] (2) (nphen = 5-nitro-1,10-phenanthroline, dmphen = 4,7-dimethyl-1,10-phenanthroline, and gly = glycine)-have been synthesized and characterized by CHN analysis, single-crystal X-ray diffraction techniques, FTIR, EPR spectroscopy, and cyclic voltammetry. The CT-DNA-binding properties of these complexes have been investigated by thermal denaturation measurements and both absorption and emission spectroscopy. The DNA cleavage activity of these complexes has been studied on supercoiled pUC19 plasmid DNA by gel electrophoresis experiments in the absence and presence of HO.

Binary and ternary new water soluble copper(II) complexes of l-tyrosine and substituted 1,10-phenanthrolines: effect of substitution on DNA interactions and cytotoxicities.

Binary and ternary water soluble copper(II) complexes - [Cu(nphen)2(H2O)](NO3)2·H2O (1), [Cu(phen)2(H2O)](NO3)2 (2), [Cu(nphen)(l-tyr)(H2O)]NO3·2H2O (3), [Cu(phen)(tyr)(H2O)] NO3·2H2O (4) - and diquarternary salts of nphen and phen (nphen=5-nitro-1,10-phenanthroline, phen=1,10-phenanthroline and tyr=l-tyrosine) have been synthesized and characterized by CHN analysis, (1)H NMR, (13)C NMR and IR spectroscopy, thermal analysis and single crystal X-ray diffraction techniques. The CT-DNA binding properties of these compounds have been investigated by thermal denaturation measurements, absorption and emission spectroscopy. The supercoiled pUC19 plasmid DNA cleavage activity of these compounds has been explored by agarose gel electrophoresis.

New water-soluble copper (II) complexes including 4,7-dimethyl-1,10-phenanthroline and L-tyrosine: synthesis, characterization, DNA interactions and cytotoxicities.

Two new water-soluble copper(II) complexes, [Cu(dmphen)2(NO3)]NO3 (1), [Cu(dmphen)(tyr)(H2O)]NO3·H2O (2) and the diquarternary salt of dmphen (dmphen = 4,7-dimethyl-1,10-phenanthroline and tyr = L-tyrosine), have been synthesized and characterized by elemental analysis, (1)H NMR, (13)C NMR and IR spectroscopy, thermal analysis and single crystal X-ray diffraction techniques. The CT-DNA binding properties of these compounds have been investigated by absorption, emission spectroscopy and thermal denaturation measurements. The supercoiled pBR322 plasmid DNA cleavage activity of these compounds has been explored by agarose gel electrophoresis.

Reference equations for ultrasound bone densitometry of the radius in Central European children and adolescents.

Unlabelled: Bone density measurements are important for evaluation and follow-up of children with alterations in their mineral status (increased risk for fractures and osteoporosis subsequently). Interpretation of these measurements relies on the availability of appropriate reference equations. We developed gender-specific, age-dependent reference values of bone density for Central European children.

Reconditioning of an injured lung graft with intrabronchial surfactant instillation in an ex vivo lung perfusion system followed by transplantation.

Background: We tested whether an injured lung graft from category-3 donation after cardiac death donor could be reconditioned with an ex vivo lung perfusion (EVLP) system by intrabronchial diluted surfactant lavage before transplantation.

Methods: In a pig model, cardiac arrest was induced by deconnecting from the ventilator. Left lung injury was done by intrabronchial instillation of 1 mL/kg pepsin + HCl.

Exhaled nitric oxide in symptomatic children at preschool age predicts later asthma.

Background: Prediction of asthma in young children with respiratory symptoms is hampered by the lack of objective measures applicable in clinical routine. In this prospective study in a preschool children cohort, we assessed whether the fraction of exhaled nitric oxide (FeNO), a biomarker of airway inflammation, is associated with asthma at school age.

Methods: At baseline, IgE and eosinophils were measured in the blood, and FeNO was measured offline in 391 children aged 3-47 months with lower airway symptoms.

Surfactant improves graft function after gastric acid-induced lung damage in lung transplantation.

Background: The number of available donor lungs is still the limiting factor in lung transplantation. We have recently shown that diluted surfactant lavage during ex vivo lung evaluation improved the graft function after gastric acid aspiration. In the present study, we hypothesized that diluted surfactant administration would recondition and improve the graft function after acid aspiration-induced lung injury in a porcine model of pulmonary transplantation.

Exhaled nitric oxide decreases after positive food-allergen challenge.

Background: Exhaled nitric oxide (FeNO) is a well described marker of airway inflammation in asthma and is also known to increase after chronic exposure to inhaled allergens. It is not known whether monitoring FeNO could be useful during food challenges to detect early or subclinical reactions.

Methods: Forty children aged 3 to 16 years undergoing an allergen-food challenge at two centres were prospectively recruited for this study.

Prevention of primary graft dysfunction in lung transplantation by N-acetylcysteine after prolonged cold ischemia.

Background: N-Acetylcysteine (NAC), a thiol-containing compound that has been used as an anti-oxidant, may also lead to an increased glutathione synthesis. This study assessed the protective effect of NAC on primary graft dysfunction after lung transplantation.

Methods: Porcine single left-lung transplantation was performed in 2 experimental groups after 24 hours of cold storage.

Surfactant alterations following donation after cardiac death donor lungs.

The use of lungs from donation after cardiac death (DCD) donors is one of the strategies to increase the donor pool. The aim of this study was to assess the surfactant alterations in DCD donor lungs. Pigs were sacrificed and left untouched for 1 (DCD1), 2 (DCD2) and 3 (DCD3) h.

Ex vivo reconditioning of marginal donor lungs injured by acid aspiration.

Background: Injured lungs due to gastric acid aspiration may be rejected for transplantation because of the possibility of early graft dysfunction. We hypothesized that diluted surfactant administration during ex vivo perfusion would recondition the lungs injured by acid aspiration and permit their use as suitable grafts for transplantation.

Methods: Using a pig model, lung injury was induced with 5-ml/kg administration of a betaine-HCl/pepsin mixture via a flexible bronchoscope.

Impact of topical cooling solution and prediction of pulmonary graft viability from non-heart-beating donors.

Background: Functional assessment of the potentially damaged graft from a non-heart-beating donor (NHBD) is mandatory for successful outcome after transplantation. We investigated the impact of the topical cooling solution on graft preservation and whether inflammatory markers in bronchoalveolar lavage (BAL) can predict pulmonary graft viability in a pig ex vivo lung perfusion model.

Methods: Pigs were euthanized and left untouched for 1 (SAL-1, PER-1) or 3 (SAL-3, PER-3) hours.

Fibrinolytic treatment improves the quality of lungs retrieved from non-heart-beating donors.

Background: The use of non-heart-beating donors (NHBDs) is an alternative strategy to increase the limited number of donors. The ex vivo evaluation has been proposed to assess the function of the lungs from NHBDs as an interim evaluation of the graft before transplantation. We evaluated the effect of a fibrinolytic agent, urokinase, in a pig ex vivo evaluation model.

Elevated nitrite in breath condensates of children with respiratory disease.

The aim of the study was to determine the differences in nitrite, in the exhaled breath condensates of healthy children and those children with asthma, cystic fibrosis (CF) and nonasthmatic, episodic cough. Breath condensates were obtained from 66 children (43 males:23 females, 3.1-16 yrs) and included 29 asthmatics, 12 clinically stable CF patients, 12 children with cough but not asthma and 13 healthy volunteers.

Melatonin attenuates posttransplant lung ischemia-reperfusion injury.

Background: Melatonin, a pineal hormone, is a free radical scavenger and an antioxidant. The purpose of this study was to assess the protective effect of melatonin on posttransplant lung ischemia-reperfusion injury.

Methods: Rat single-lung transplantation was performed in two (n = 10) experimental groups after 18 hours of cold (4 degrees C) ischemia.