Corrigendum: Gut and spleen anomalies associated with DYRK1A syndrome.

[This corrects the article DOI: 10.3389/fped.2022.936732.].

Case Report: Gut and spleen anomalies associated with DYRK1A syndrome.

DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation.

A facile hydrothermal approach for the density tunable growth of ZnO nanowires and their electrical characterizations.

Controlling properties of one-dimensional (1D) semiconducting nanostructures is essential for the advancement of electronic devices. In this work, we present a low-temperature hydrothermal growth process enabling density control of aligned high aspect ratio ZnO nanowires (NWs) on seedless Au surface. A two order of magnitude change in ZnO NW density is demonstrated via careful control of the ammonium hydroxide concentration (NH4OH) in the solution. Based on the experimental observations, we further, hypothesized the growth mechanism leading to the density controlled growth of ZnO NWs. Moreover, the effect of NH4OH on the electrical properties of ZnO NWs, such as doping and field-effect mobility, is thoroughly investigated by fabricating single nanowire field-effect transistors. The electrical study shows the increase of free charge density while decrease of mobility in ZnO NWs with the increase of NH4OH concentration in the growth solution. These findings show that NH4OH can be used for simultaneous tuning of the NW density and electrical properties of the ZnO NWs grown by hydrothermal approach. The present work will guide the engineers and researchers to produce low-temperature density controlled aligned 1D ZnO NWs over wide range of substrates, including plastics, with tunable electrical properties.

Long-gap esophageal atresia: traction-growth and anastomosis - before and beyond.

Long-gap esophageal atresia (LGEA) is still a major surgical challenge. Options for esophageal reconstruction include the use of native esophagus or esophageal replacement with stomach, colon, or small intestine. Nonetheless, there is a consensus among most pediatric surgeons that the preservation of the native esophagus is associated with better postoperative outcomes. Thus, every effort should be made to conserve the native esophagus. The present study is aimed at critically reporting our experience focused on a standardized protocol based on the preoperative assessment of the gap in all cases and reviewing the present literature because no consensus is available regarding many aspects of LGEA (from definition to treatment). All newborn infants treated since 1995 for esophageal atresia (EA), regardless of type, were included in the present study. Identification of LGEA patients (gap ≥3 vertebral bodies) was performed based on preoperative esophageal gap measurement. The selected patients were grouped based on EA type (A/B vs. C/D) and whether they were referred from an outside institution or not. Postoperative outcome was compared. Statistical analysis was performed with the Fisher's exact test and Mann-Whitney test as appropriate, with P < 0.05 considered statistically significant. Two hundred and nineteen patients have been consecutively treated between 1995 and 2012 with the following EA subtypes: type: A 25 (11.4%); B 6 (2.7%); C 182 (83.1%); D 3 (1.4%); E 3 (1.4%). Fifty-seven patients (26%) were classified as LGEA: type A-B, 31 (54.4%); type C-D, 26 (45.6%). Twenty seven (47%) of these patients were referred after at least one failed attempt at esophageal correction: type A-B, 15 (55%); type C-D, 12 (45%). Only one patient ultimately required esophageal substitution, with an overall survival rate of 94%. A standardized perioperative protocol enhances the possibility of preserving the native esophagus in cases of LGEA. Gap measurement can be accurately defined before surgery in all patients with EA. Esophageal anastomosis (either immediate or delayed repair) is almost always feasible; esophageal substitution should only be considered after a rigorous attempt at achieving end-to-end esophageal anastomosis.

Stress and ano-colorectal surgery in newborn/infant: role of anesthesia.

PURPOSE: The best anesthesia for newborns/infants necessitating colorectal surgery remains questionable. Endovenous and locoregional anesthesiological approaches were compared to determine the influence on stress response. METHODS: Patients with anorectal malformations or Hirschsprung's disease were randomized to inhalatory/epidural anesthesia (IPA) or inhalatory/endovenous anesthesia (IEA). Heart rate, blood pressure, oxygen saturation, serum concentrations of dehydroepiandrosterone, cortisol, and glucose were recorded 24 h before operation (T0), after tracheal intubation (T1), 120 min after skin incision (T2), 60 min (T3) and 24 h after operation (T4). RESULTS: Seventeen patients were enrolled in the study, 8 receiving IPA, and 9 IEA. Heart rate, blood pressure, oxygen saturation remained stable and normal, without statistical differences between the two groups, during the study period. Similar cortisol and glucose levels showed no statistical differences between groups. Dehydroepiandrosterone values were significantly higher in IEA during anesthesia (T1-T3) compared with IPA (T1: 494.0 vs. 266.5, p < 0.05; T2: 444.0 vs. 201.0, p < 0.05; T3: 385.0 vs. 305.0, p < 0.05). CONCLUSION: This study suggests that epidural and endovenous anesthesia are both effective in intra- and postoperative period. This preliminary report suggests that IPA is more efficient compared to IEA in controlling stress reaction related to surgery. Further larger studies are needed to confirm these findings.

Pulmonary hypertension in neonates with high-risk congenital diaphragmatic hernia does not affect mid-term outcome.

PURPOSE: Congenital diaphragmatic hernia (CDH) presents with a broad spectrum of severity, depending on the degree of pulmonary hypoplasia and persistent pulmonary hypertension (PPH). It is currently not clear whether pulmonary hypertension may affect late morbidity. Aim of the present study was to evaluate the influence of PPH on mid-term morbidity in high-risk CDH survivors. METHODS: All high-risk (prenatal diagnosis and/or respiratory symptoms within 6 h of life) CDH survivors, treated between 2004 and 2008 in our Department were followed up in a multidisciplinary outpatient clinic as part of a longitudinal prospective study. Auxological, gastroesophageal, pulmonary and orthopedic evaluations were done at specific time-points (at 6, 12, and 24 months of age). Patients were grouped depending on the presence/absence of pulmonary hypertension (defined by expert pediatric cardiologists after echocardiography). Paired t-test and Fisher's exact test were used as appropriate. P < 0.05 was considered significant. RESULTS: 70 survivors out of a total of 95 high-risk CDH infants treated in our Department attended our follow-up clinic and were prospectively evaluated. 17 patients were excluded from the present study because no clear data was available regarding the presence/absence of PPH during the perinatal period. Moreover, 9 infants were not enrolled because they did not reach at least 6 months of age. A total of 44 survivors were finally enrolled since they met the inclusion criteria. 26 infants did not present with PPH during the first hospital admission, while 18 had PPH. The 2 groups did not differ with regard to any of the outcomes considered at follow-up (p > 0.2). CONCLUSION: In our cohort of high-risk CDH survivors, PPH was not found to affect late sequelae at mid-term follow-up. This may indicate that postnatal pulmonary development is not (always) influenced by perinatal PPH. Nevertheless, a longer follow-up and more patients are needed to properly quantify possible late problems in high-risk CDH survivors with associated neonatal PPH.

Quantum chemical study of conformational fingerprints in the photoelectron spectra and (e, 2e) electron momentum distributions of n-hexane.

The main purpose of the present work is to simulate from many-body quantum mechanical calculations the results of experimental studies of the valence electronic structure of n-hexane employing photoelectron spectroscopy (PES) and electron momentum spectroscopy (EMS). This study is based on calculations of the valence ionization spectra and spherically averaged (e, 2e) electron momentum distributions for each known conformer by means of one-particle Green's function [1p-GF] theory along with the third-order algebraic diagrammatic construction [ADC(3)] scheme and using Kohn-Sham orbitals derived from DFT calculations employing the Becke 3-parameters Lee-Yang-Parr (B3LYP) functional as approximations to Dyson orbitals. A first thermostatistical analysis of these spectra and momentum distributions employs recent estimations at the W1h level of conformational energy differences, by Gruzman et al. [J. Phys. Chem. A 2009, 113, 11974], and of correspondingly obtained conformer weights using MP2 geometrical, vibrational, and rotational data in thermostatistical calculations of partition functions beyond the level of the rigid rotor-harmonic oscillator approximation. Comparison is made with the results of a focal point analysis of these energy differences using this time B3LYP geometries and the corresponding vibrational and rotational partition functions in the thermostatistical analysis. Large differences are observed between these two thermochemical models, especially because of strong variations in the contributions of hindered rotations to relative entropies. In contrast, the individual ionization spectra or momentum profiles are almost insensitive to the employed geometry. This study confirms the great sensitivity of valence ionization bands and (e, 2e) momentum distributions on the molecular conformation and sheds further light on spectral fingerprints of through-space methylenic hyperconjugation, in both PES and EMS experiments.

Compensatory renal growth in children with unilateral renal tumor treated by nephron-sparing surgery or nephrectomy.

INTRODUCTION: In children with an unilateral renal tumor, nephron-sparing surgery (NSS) results in a more adequate renal function adaptation compared to nephrectomy. In the present study, we investigated whether nephron-sparing surgery is followed by a different renal structure adaptation compared to nephrectomy. METHODS: Sixteen patients with unilateral renal tumor treated by nephrectomy (Group 1) and 10 treated by nephron-sparing surgery (Group 2) were enrolled in the study. Kidney volume was estimated by ultrasonography, using the formula for a prolate ellipsoid. Kidney volume was adjusted to the patient's weight and kidney laterality and expressed as a percentage of the expected volume of two kidneys in a healthy child. Total kidney volume (TKV) corresponded to the volume of the contralateral kidney in Group 1 patients, and to the volume of contralateral kidney + kidney remnant in Group 2 patients. Renal function was evaluated by serum creatinine values adjusted for sex and age and expressed as standard deviation scores (SDS). RESULTS: Group 2 patients presented with a greater indexed TKV compared to Group 1 patients, (97.4 +/- 18.8 % vs. 77.0 +/- 17.7 %; p = 0.005). Indexed TKV below the reference range for healthy controls with two kidneys was found in 4 of 10 Group 2 patients vs. 14 of 16 Group 1 patients (p = 0.017). In both patient groups, correlation analysis of indexed TKV and creatinine SDS showed a negative correlation (r = - 0.47; p = 0.01). CONCLUSION: In children with unilateral renal tumor, NSS is followed by a more adequate compensatory restoration of TKV compared with nephrectomy.

Cannula tip intravascular migration in an infant.

In infants, the tip of a cannula is sometimes used as introducer during peripherally inserted central catheters placement. We report a rare complication of this procedure, characterized by intravascular migration of the cannula tip during peripheral insertion of a central venous catheter. We review this unlikely complication and treatment options.

Safety and feasibility of exhaled breath condensate collection in ventilated infants and children.

The aim of this study was to develop a technique for the collection of exhaled breath condensate (EBC) from ventilated children and assess its safety and feasibility. Collection of EBC is used to investigate markers of oxidative stress in the lower airway. No studies have assessed its safety in ventilated children. An in vitro model was developed by connecting a ventilator to an artificial lung; 14 clinical and ventilatory parameters were measured during EBC collection from ventilated children. Levels of 8-isoprostane were measured following collection with and without humidification of the inhaled gas. Amount of water vapour collected was linearly related to time and to minute ventilation in the in vitro model. EBC collections (n = 68) were made from ventilated children. In the nonhumidified group, the mean (range) positive end-expiratory pressure increased by 4.1% (2.8-5.5%) and the peak inspiratory flow decreased by 6.1% (11.0-1.3%) during collection. Detectable levels of 8-isoprostane were only found in 10 out of 18 nonhumidified EBC samples (median (range) 4.7 pg x mL(-1) (0-5.8)). Collection of exhaled breath condensate from ventilated infants and children is feasible and safe. Discontinuation of humidification is likely to be important in standardising the measurement of inflammatory parameters in exhaled breath condensate collected from ventilated children.

Extracorporeal membrane oxygenation in infants with congenital diaphragmatic hernia: a systematic review of the evidence.

AIM: The aim of this study was to evaluate the evidence supporting the use of extracorporeal membrane oxygenation (ECMO) in infants with congenital diaphragmatic hernia (CDH) and severe respiratory failure. METHODS: Medline, Embase, ISI Current Contents and Biosis databases were searched using a defined strategy. Case reports and opinion articles were excluded. We performed: 1) a systematic review of non randomised studies comparing mortality when ECMO was not available with a period when ECMO was available. Mortality was classified as "early" (before hospital discharge) and "late" (after discharge). Patients were classified as "ECMO" and "non-ECMO" candidates according to criteria reported by the authors; 2) a meta-analysis of randomised controlled trials (RCTs) comparing ECMO and conventional mechanical ventilation (CMV). Differences in mortality are reported as relative risk (RR) and 95 % confidence intervals. RESULTS: A) SYSTEMATIC REVIEW: 658 studies and 21 (2043 patients) fulfilled the entry criteria. Both early (RR 0.60 [0.51-0.70]; p < 0.001) and late mortality (RR 0.63 [0.53-0.73]; p < 0.001) were significantly lower when ECMO was available than when ECMO was unavailable. This difference in mortality was observed in "ECMO candidates" (RR 0.46 [0.32-0.68]; p < 0.001) but not in "non-ECMO candidates" (RR 0.80 [0.58-1.10]; p = 0.17). B) META-ANALYSIS: 3 trials comparing ECMO and conventional ventilation were identified which included 39 infants with CDH. The early mortality was significantly lower with ECMO compared to CMV (RR 0.73 [95 % CI 0.55-0.99]; p < 0.04), however, late mortality was similar in the two groups (RR 0.83 [0.66-1.05]; p = 0.12). CONCLUSIONS: Non randomised studies suggest a reduction in mortality with ECMO. However, differences in the indications for ECMO and improvements in other treatment modalities may contribute to this reduction. The meta-analysis of RCTs indicates a reduction in early mortality with ECMO but no long-term benefit. A large RCT in infants with CDH and severe respiratory failure is warranted.

Cytomegalovirus infection after autologous stem cell transplantation: incidence and outcome in a group of patients undergoing a surveillance program.

This study was performed to evaluate the incidence, risk factors, and outcome of cytomegalovirus (CMV) infection in autologous stem cell transplantation (ASCT), with the aim of performing preemptive therapy in patients with antigenemia. Starting from 2001, 171 consecutive ASCTs were performed in 136 patients; 102 of these patients were seropositive for CMV at the onset of hematological disease. In all these patients, a CMV pp65 antigenemia assay was determined weekly, starting from the day when the absolute neutrophil count went above 500/microL, and until day 60 after ASCT; subsequently, antigenemia was determined only when a CMV infection was suspected. Among the 136 transplanted patients, 40 (29.4%) presented a positive antigenemia; all of them were seropositive for CMV before ASCT; and no cases of primary infection were seen. The incidence of CMV infection in the seropositive population was 40/102 (39.3%); 6 patients (5 with multiple myeloma and 1 with non-Hodgkin's lymphoma) who received 2 ASCTs developed CMV infections after both transplantations, so that positive antigenemia developed after 46/171 (26.9%) transplantations. First positive antigenemia presented a median of 32 days (range 7-57) after stem cell reinfusion. The median antigenemia level at the first appearance was 2/200,000 (range 1-1000). No significant prognostic factors could be shown. Enteritis was present in 5 patients; 2 of them also had fever, and 1 of them also had thrombocytopenia. In 5 patients fever without any other clinical signs or symptoms was present; 30 patients were asymptomatic. Fourteen patients were treated with anti-CMV drugs. CMV reactivation was successfully treated in all patients, and no patient died from CMV disease.

Radial artery pseudoaneurysm successfully treated by compression bandage.

In children, surgery for radial artery pseudoaneurysm (PA) may be followed by growth retardation of the hand because of inadequate blood flow. We believe this is the first report of a child with PA of the radial artery cured by compression bandage. Conservative management is a safe and valuable initial treatment option for uncomplicated radial PA.

Microwave-assisted preparation of cyclic ketals from a cineole ketone as potential cosmetic ingredients: solvent-free synthesis, odour evaluation, in vitro cytotoxicity and antimicrobial assays.

Some cyclic ketals derived from (+)1,3,3-trimethyl-2-oxabicyclo[2.2.2]octan-6-one were obtained in excellent yields by microwave activation under solvent-free conditions, as a 'green chemistry' procedure. The results obtained using acidic alumina containing 7% p-toluenesulfonic acid, as mineral support, are reported and compared with those obtained by classical methods. The new compounds were tested for their olfactive character and for a potential cosmetic use. In vitro skin cytotoxicity tests were carried out on the most promising compounds, by using NCTC 2544 human keratinocytes as target cells. They all displayed slight cytotoxic effects which were one order of magnitude lower than those found with sodium dodecylsulphate positive control. Two compounds that resulted interesting as toothpaste aromas, were submitted to antimicrobial assays and showed their activity against Pseudomonas aeruginosa, Escherichia coli, Staphylococcus hominis, Propionibacterium acnes and Candida albicans.

[Female genital mutilation: FGM patients treated at the "Umberto I" polyclinic of Rome: 1985-1996]. / Mutilazioni genitali femminili: pazienti con esiti di FGM ricoverate nel Policlinico "Umberto I" di Roma: periodo 1985-1996.

The article deals with the medical aspect regarding female genital mutilations (FGM). The cultural origin of this tradition is also considered. Such a practice lies in the partial or complete excision of the external genitalia: it is highly widespread in Central Africa, especially in Ethiopia and Somalia. Currently, approximately 130,000,000 women are involved worldwide. In Italy, it is estimated that about 30,000 women amongst the immigrant population are involved (1). Due to the increasing immigration of women from Countries with FGM tradition, knowledge of the pathologies related to such a practice has become urgently necessary to physicians of western Countries. The aim of this study was to analyze the short-term complications of FGM, which are severe and often even deadly, as well as the long-term ones, which are more likely to be faced in the clinical practice of a western Country physician. In particular, a sample of nine women who had undergone infibulation, amongst the patients admitted at the Departments of Obstetrics and Ginaecology of university of Rome "La Sapienza" during the period 1 January 1985-31 december 1996, has been analyzed. Five out of these women suffered form gynaecological pathologies, whilst four from obstetrical pathologies. Our data on complications associated with FGM are in agreement with those of the world literature and highlight how a more specific expertise is necessary for a correct health care of these women.

Induction by xenobiotics of phase I and phase II enzyme activities in the human keratinocyte cell line NCTC 2544.

This study analyses the expression and induction of several drug-metabolising enzyme activities involved in either phase I or phase II biotransformations in NCTC 2544 human keratinocytes. The phase I activities 7-ethoxycoumarin O-deethylase (ECOD), 7-ethoxyresorufin O-deethylase (EROD) and 7-pentoxyresorufin O-depenthylase (PROD) were easily detectable in basal conditions. During incubations lasting up to 144 h in the presence of the classical cytochrome P450 inducers beta-naphthoflavone (BNF), 3-methylcholanthrene (MC) and phenobarbital (PB), a considerable and significant increase in all the three activities was observed. PROD activity was induced up to 4.5-fold after 96 h in the presence of PB. The MC-induced ECOD and EROD activities were also dose-dependently inhibited by alpha-naphothflavone, which was given to the cells during the incubation with CYP 1A1 inducers. Also the PB-induced PROD activity was decreased by the simultaneous addition of the CYP 2B inhibitor metyrapone. Both cytochrome P450 inhibitors were used at non-cytotoxic concentrations. The phase II enzymes glutathione S-transferase, aldehyde dehydrogenase and quinone reductase were all highly expressed and inducible by MC. The exposure (24 h) of the cells to four hair dyes used in cosmetic formulations resulted in a marked increase in ECOD activity. All data give sustained evidence for the suitability of NCTC 2544 cell line to skin toxicology studies.

Pattern of cardiovascular anomalies associated with esophageal atresia: support for a caudal pharyngeal arch neurocristopathy.

Patients with cephalic neurocristopathy (an abnormality of neural crest differentiation) present a striking pattern of associated cardiovascular anomalies (CVA). Therefore, to support the hypothesis that esophageal atresia (EA) may be related to a defective contribution from the cephalic neural crest, we studied the pattern of CVA associated with EA. Medical records of 99 patients with isolated EA, 101 with isolated anorectal malformations (ARM) and 15 with both EA and ARM, consecutively admitted to our unit, were reviewed. The prevalence and pattern of CVA associated with isolated EA or isolated ARM were compared on the assumption that the cranial or caudal location of a major malformation is related to a different regional patterning of associated anomalies. The prevalence of CVA was 39% in patients with isolated EA and 7% in those with isolated ARM (p < 0.01). Neural crest-related CVA (aortic arch anomalies, conotruncal defects, and superior vena cava malformations) accounted for 72% of all CVA in patients with isolated EA versus 14% in those with isolated ARM (p < 0.02). In patients with isolated EA, anomalies of the fourth and sixth aortic arch derivatives accounted for 75% of all neural crest related CVA. The present pattern of CVA in infants with EA supports the concept that EA may be related to an abnormal contribution from caudal portion of cephalic neural crest.

Detrusor hypocontractility evolution in boys with posterior urethral valves detected by pressure flow analysis.

PURPOSE: We evaluated the natural evolution of detrusor voiding contractility in boys who underwent posterior urethral valve ablation using pressure flow analysis, which is a mathematical computerized analysis of pressure flow studies. MATERIALS AND METHODS: Among 30 boys with posterior urethral valves who were being prospectively followed, even if asymptomatic on serial pressure flow studies, 11 were included in our study. These 11 patients had had at least 2 evaluations performed between ages 5 and 15 years, a minimum interval of 4 years between the first and last examination, and all pressure flow studies records available for mathematical analysis of voiding contractility. The first examination had been done at ages 5 to 10 years (average 7 +/- 2.04) and the last one at ages 9 to 15 (12.5 +/- 2.5), including 6 evaluated after puberty. All but 1 patient underwent valve endoscopic resection as a newborn and none received urinary diversion. Voiding symptoms, post-void residual, cystometric bladder capacity and bladder instability were considered. Voiding phase maximal detrusor pressure and flow rate were evaluated and detrusor contractility was calculated by the pressure flow analysis parameters of contraction velocity, detrusor contractile power expressed as watt factor and Schafer's nomogram. Contraction velocity and contractile power factor were considered low if below 2 standard deviations of previously determined normal values. True hypocontractility was diagnosed when at least 2 pressure flow analysis parameters were low. RESULTS: True hypocontractility was detected in 3 of the 11 boys at the first examination and in 8 at the last pressure flow analysis. The remaining 8 and 3 cases of first and last examinations, respectively, were considered to have normal contractility even if 4 of the 8 and 1 of the 3 had 1 low pressure flow analysis parameter (covert hypocontractility). Detrusor contractility worsened in 6 patients, hypocontractility was detected at the first pressure flow analysis in 2, hypocontractility changed to normal in 1 and pressure flow analysis remained normal in 2. Of the 6 boys followed through puberty 5 had hypocontractility, including 3 with cystometric bladder capacity greater than 700 ml., high post-void residual and strained voiding. Of the 11 patients 8 had detrusor instability, including 7 with urge symptoms, at first evaluation which was not found at last examination. CONCLUSIONS: Pressure flow analysis extensively used in men has been confirmed as a useful tool to assess voiding contractility in children. The majority of boys with posterior urethral valves have progressive impairment of detrusor contractility at voiding many years after relief of obstruction. The pattern of hypocontractility, which is detected early on pressure flow analysis, follows a prolonged phase of instability in many cases and leads to an over distended bladder in most patients followed after puberty. Questions arise if this evolution may be prevented by early (pharmacological or rehabilitative) treatment and if it is partially determined by extensive use of drugs acting against unstable detrusor contractions.