153 research outputs found
Determinants of renal function in preterm newborns
Background: Little is known about potential endogenous biomarkers of renal function other than serum creatinine (sCr). Aims: to evaluate cystatine C (CysC) and beta-trace protein (BTP) levels in preterm newborns and to assess the impact of kidney-detrimental factors on kidney function. Methods: newborns with GA28wks (p=0.016). At T0, sCr was negatively correlated with GA (R= -0.315, p=0.009), whereas CysC and BTP were not influenced by GA. At T36, newborns with GA 28 wks had lower sCr, BTP and higher urea levels (p=0.007, p=0.005 and p=0.029, respectively). At T36 eGFR values calculated by the four formulas using only CysC were not different in newborns with GA 28 and >28wks. eGFR values estimated by other formulas were higher in subjects born at a
lower GA. We found a direct correlation between the post-natal score and eGFR estimated according to the sCr-based formulas by Schwartz2009 (R=0.345, p=0.027) and Brion (R=0.312, p=0.044), not persisting after adjustment for urea levels at T36 and GA. No correlations were found between the scores and eGFR according to the other formulas. Conclusions: eGFR formulas using CysC are not influenced by GA. Post-natal score shows a direct correlation with eGFR according to sCr-based formulas, which does not persist after adjustment for GA and urea levels, showing that the underlying confounder may be the nutritional status of preterm newborns, as suggested by the higher urea levels in newborn with GA 28wks at T36
Delayed-release oral suspension of omeprazole for the treatment of erosive esophagitis and gastroesophageal reflux disease in pediatric patients: a review
Omeprazole is a proton-pump inhibitor indicated for gastroesophageal reflux disease and erosive esophagitis treatment in children. The aim of this review was to evaluate the efficacy of delayed-release oral suspension of omeprazole in childhood esophagitis, in terms of symptom relief, reduction in reflux index and/or intragastric acidity, and endoscopic and/or histological healing. We systematically searched PubMed, Cochrane and EMBASE (1990 to 2009) and identified 59 potentially relevant articles, but only 12 articles were suitable to be included in our analysis. All the studies evaluated symptom relief and reported a median relief rate of 80.4% (range 35%–100%). Five studies reported a significant reduction of the esophageal reflux index within normal limits (<7%) in all children, and 4 studies a significant reduction of intra-gastric acidity. The endoscopic healing rate, reported by 9 studies, was 84% after 8-week treatment and 95% after 12-week treatment, the latter being significantly higher than the histological healing rate (49%). In conclusion, omeprazole given at a dose ranging from 0.3 to 3.5 mg/kg once daily (median 1 mg/kg once daily) for at least 12 weeks is highly effective in childhood esophagitis
Access to paediatric emergency departments in Italy: a comparison between immigrant and Italian patients
<p>Abstract</p> <p>Objective</p> <p>The aim of the study was to investigate whether access to paediatric emergency departments differed between foreign and Italian patients.</p> <p>Methods</p> <p>We performed a cross-sectional study between January-December 2007 to analyse attendance's characteristics in the paediatric emergency departments of ten Italian public hospitals. The study population included each foreign patient and the following Italian patient admitted to the same emergency department. All causes of admission of these subjects were evaluated, together with the child's age, gender, country of birth, parents' nationality, time of admission, severity code and discharge-related circumstances.</p> <p>Results</p> <p>We enrolled 4874 patients, 2437 foreign (M:F = 1409:1028) and 2437 Italian ones (M:F = 1368:1069). Most of foreign and Italian patients' admissions were sorted as green (72.5% and 87.8%, respectively) or white codes (25.2% and 9.8%, respectively). The most frequent causes for attendance concerned respiratory tract diseases, followed by gastroenteric ones and injuries in both groups.</p> <p>Conclusion</p> <p>In our survey immigrants didn't access to emergency departments more than Italian children. Both of them referred to emergency departments mainly for semi-urgent or non-urgent problems. Foreign and Italian patients suffered from the same pathologies. Infectious diseases traditionally thought to be a potential problem in immigrant populations actually seem to be quite infrequent.</p
Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome
Jeune syndrome (asphyxiating thoracic dystrophy) is a rare skeletal dysplasia mainly characterized by dystrophy of the thoracic cage. Neurally adjusted ventilatory assist (NAVA) is a respiratory support in which pressure assistance is provided in proportion to and synchronous with the electrical activity of the diaphragm. We present the case of a 4-month-old infant with asphyxiating thoracic dystrophy and respiratory failure successfully ventilated with NAVA. In this case, NAVA improved patient–ventilator synchrony, reducing endotracheal secretion and gastric overdistention. The reduction of breathing effort and the improvement in enteral feeding tolerance and weight gain made the patient eligible for thoracic surgical correction
Early instrumental predictors of long term neurodevelopmental impairment in newborns with perinatal asphyxia treated with therapeutic hypothermia
Background. Hypoxic-ischemic encephalopathy
(HIE) is a leading cause of disability
in full-term newborns. Long-term
consequences of HIE, even when treated
by hypothermia, are not easily predictable.
Aims. To assess the potential role of electroencephalography
and neuroimaging
parameters as early predictors of neurodevelopmental
outcome in HIE newborns
treated with hypothermia.
Methods. We retrospectively evaluated 13
HIE patients treated with hypothermia
in January 2012-September 2014. We reviewed
their amplitude-integrated electroencephalography
(a-EEG) at 6, 12 and 24
hours (h), cranial ultrasonography (US) at
12, 72 h and >7 days of life (DOL) and brain
magnetic resonance (MRI) performed at
7-28 DOL, according to validated scores.
aEEG, US and MRI patterns were correlated
to neurodevelopmental outcome at 18-
24 months, considered as negative if one of
the following was present: Mental Development
Index (MDI)<85, motor, visual or
hearing impairment.
Results. Te severity of a-EEG, US and
MRI alterations at each time point was
not diferent according to the outcome.
MDI was negatively correlated with aEEG
score at 12h (R= -0.571, p=0.04) and with
US score at 72h (R= -0.630, p=0.02). A
positive correlation was found between
aEEG score at 6h and US score at >7DOL
(R=0.690, p=0.013). US alterations of the
cortical matter at 72h were directly correlated
with a-EEG score at 12h (R = 0.606,
p=0.028) and 24h (R=0.605, p=0.029).
Conclusions. Early instrumental evaluations,
in particular aEEG and US, seem
to predict neurodevelopmental outcome
at 18-24 months in HIE newborns treated
with hypothermia
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies
BACKGROUND: Mutations of SHOX represent the most frequent monogenic cause of
short stature and related syndromes. The genetic alterations include point
mutations and deletions/duplications spanning both SHOX and its regulatory
regions, although microrearrangements are confined to either the downstream or
upstream enhancers in many patients. Mutations in the heterozygous state have
been identified in up to 60-80% of Leri-Weill Dyschondrosteosis (LWD; MIM
#127300) and approximately 4-5% of Idiopathic Short Stature (ISS; MIM#300582)
patients. Homozygous or compound heterozygous mutations as well as biallelic
deletions of SHOX and/or the enhancer regions result in a more severe phenotype,
which is known as Langer Mesomelic Dysplasia (LMD; MIM #249700).
CASE PRESENTATION: A 17 year old girl, presented with severe short stature,
growth hormone deficiency (GHD), precocious puberty, dorsal scoliosis,
dysmorphisms and urogenital malformations. She was born with agenesis of the
right tibia and fibula, as well as with a supernumerary digit on the left foot.
Array comparative genomic hybridization (aCGH) analysis detected the presence of
two distinct duplications on Xp22.1 flanking the SHOX coding sequence and
involving its regulatory regions. An additional duplication of 1.6-2.5 Mb on
15q25.2 that included 13 genes was also identified. The girl was adopted and the
parent's DNA was not available to establish the origin of the chromosome
imbalances.
CONCLUSIONS: The complex phenotype observed in our patient is probably the result
of the co-occurrence of rearrangements on chromosomes Xp22.1 and 15q25.2. The
duplicated region on 15q25.2 region is likely to contain dosage-sensitive genes
responsible for some of the clinical features observed in this patient, whereas
the extreme short stature and the skeletal anomalies are likely attributable to
the comorbidity of GHD and copy number variants in the SHOX region
Electron transfer complex between nitrous oxide reductase and cytochrome c552 from Pseudomonas nautica: kinetic, nuclear magnetic resonance, and docking studies
Biochemistry. 2008 Oct 14;47(41):10852-62. doi: 10.1021/bi801375qThe multicopper enzyme nitrous oxide reductase (N 2OR) catalyzes the final step of denitrification, the two-electron reduction of N 2O to N 2. This enzyme is a functional homodimer containing two different multicopper sites: CuA and CuZ. CuA is a binuclear copper site that transfers electrons to the tetranuclear copper sulfide CuZ, the catalytic site. In this study, Pseudomonas nautica cytochrome c 552 was identified as the physiological electron donor. The kinetic data show differences when physiological and artificial electron donors are compared [cytochrome vs methylviologen (MV)]. In the presence of cytochrome c 552, the reaction rate is dependent on the ET reaction and independent of the N 2O concentration. With MV, electron donation is faster than substrate reduction. From the study of cytochrome c 552 concentration dependence, we estimate the following kinetic parameters: K m c 552 = 50.2 +/- 9.0 muM and V max c 552 = 1.8 +/- 0.6 units/mg. The N 2O concentration dependence indicates a K mN 2 O of 14.0 +/- 2.9 muM using MV as the electron donor. The pH effect on the kinetic parameters is different when MV or cytochrome c 552 is used as the electron donor (p K a = 6.6 or 8.3, respectively). The kinetic study also revealed the hydrophobic nature of the interaction, and direct electron transfer studies showed that CuA is the center that receives electrons from the physiological electron donor. The formation of the electron transfer complex was observed by (1)H NMR protein-protein titrations and was modeled with a molecular docking program (BiGGER). The proposed docked complexes corroborated the ET studies giving a large number of solutions in which cytochrome c 552 is placed near a hydrophobic patch located around the CuA center
Clinical differences among the elderly admitted to the emergency department for accidental or unexplained falls and syncope
It is difficult to distinguish unexplained falls (UFs) from accidental falls (AFs) or syncope in older people. This study was designed to compare patients referred to the emergency department (ED) for AFs, UFs or syncope. Data from a longitudinal study on adverse drug events diagnosed at the ED (ANCESTRAL-ED) in older people were analyzed in order to select cases of AF, syncope, or UF. A total of 724 patients (median age: 81.0 [65–105] years, 66.3% female) were consecutively admitted to the ED (403 AF, 210 syncope, and 111 UF). The number of psychotropic drugs was the only significant difference in patients with AF versus those with UF (odds ratio [OR] 1.44; 95% confidence interval 1.17–1.77). When comparing AF with syncope, female gender, musculoskeletal diseases, dementia, and systolic blood pressure >110 mmHg emerged as significantly associated with AF (OR 0.40 [0.27–0.58], 0.40 [0.24–0.68], 0.35 [0.14–0.82], and 0.31 [0.20–0.49], respectively), while valvulopathy and the number of antihypertensive drugs were significantly related to syncope (OR 2.51 [1.07–5.90] and 1.24 [1.07–1.44], respectively). Upon comparison of UF and syncope, the number of central nervous system drugs, female gender, musculoskeletal diseases, and SBP >110 mmHg were associated with UF (OR 0.65 [0.50–0.84], 0.52 [0.30–0.89], 0.40 [0.20–0.77], and 0.26 [0.13–0.55]), respectively. These results indicate specific differences, in terms of demographics, medical/pharmacological history, and vital signs, among older patients admitted to the ED for AF and syncope. UF was associated with higher use of psychotropic drugs than AF. Our findings could be helpful in supporting a proper diagnostic process when evaluating older patients after a fall
A population of gamma-ray emitting globular clusters seen with the Fermi Large Area Telescope
Globular clusters with their large populations of millisecond pulsars (MSPs)
are believed to be potential emitters of high-energy gamma-ray emission. Our
goal is to constrain the millisecond pulsar populations in globular clusters
from analysis of gamma-ray observations. We use 546 days of continuous
sky-survey observations obtained with the Large Area Telescope aboard the Fermi
Gamma-ray Space Telescope to study the gamma-ray emission towards 13 globular
clusters. Steady point-like high-energy gamma-ray emission has been
significantly detected towards 8 globular clusters. Five of them (47 Tucanae,
Omega Cen, NGC 6388, Terzan 5, and M 28) show hard spectral power indices and clear evidence for an exponential cut-off in the range
1.0-2.6 GeV, which is the characteristic signature of magnetospheric emission
from MSPs. Three of them (M 62, NGC 6440 and NGC 6652) also show hard spectral
indices , however the presence of an exponential cut-off
can not be unambiguously established. Three of them (Omega Cen, NGC 6388, NGC
6652) have no known radio or X-ray MSPs yet still exhibit MSP spectral
properties. From the observed gamma-ray luminosities, we estimate the total
number of MSPs that is expected to be present in these globular clusters. We
show that our estimates of the MSP population correlate with the stellar
encounter rate and we estimate 2600-4700 MSPs in Galactic globular clusters,
commensurate with previous estimates. The observation of high-energy gamma-ray
emission from a globular cluster thus provides a reliable independent method to
assess their millisecond pulsar populations that can be used to make
constraints on the original neutron star X-ray binary population, essential for
understanding the importance of binary systems in slowing the inevitable core
collapse of globular clusters.Comment: Accepted for publication in A&A. Corresponding authors: J.
Kn\"odlseder, N. Webb, B. Pancraz
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