73 research outputs found
Culture Based Evaluation of Microbiota in Children with Acute Appendicitis
Treatment strategies for acute uncomplicated appendicitis have evolved and now conservative antibacterial treatment is recommended over surgical treatment, especially for paediatric patients. The aim of this study was to evaluate microbiota in paediatric patients with acute uncomplicated and complicated appendicitis, and antibacterial susceptibility of the causative microorganisms. Bacteriological identification was conducted using the VITEK2 analyser. Antibacterial susceptibility tests were performed and the results were evaluated in accordance with the recommendations of the European Committee on Antimicrobial Susceptibility Testing (EUCAST) “Clinical breakpoints and dosing of antibiotics” (Version 7.0, January 2019). Serodiagnosis of Yersinia enterocolitica was performed using indirect haemagglutination. The results revealed differences in microbiota in cases of acute complicated and acute uncomplicated appendicitis. Pseudomonas aeruginosa was identified more frequently in cases of acute complicated appendicitis. Mixed culture was prevalent in cases of both acute complicated and acute uncomplicated appendicitis. Very few positive extended spectrum beta-lactamase (ESBL) Escherichia coli cultures were identified. Most of strains of Pseudomonas aeruginosa were resistant to amoxicillin with clavulanic acid, ertapenem, ampicillin and cefotaxime. Some of E. coli isolates were resistant to ampicillin and to amoxicillin with clavulanic acid.publishersversionPeer reviewe
Serum and Urine Biomarker Leucine-Rich Alpha-2 Glycoprotein 1 Differentiates Pediatric Acute Complicated and Uncomplicated Appendicitis
Funding Information: This research received grant support from the Latvian Council of Science and Riga?s Stradins University. Grant support was used for the laboratory materials for biological specimen collection. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.Purpose: This prospective, single-center cohort study analyzes the potential of inflammatory protein mediator leucine-rich alpha-2 glycoprotein 1 (LRG1) for the early and accurate diagnosis of acute appendicitis (AA), and differentiation of acute complicated (AcA) from uncomplicated appendicitis (AuA). Methods: Participants were divided into the AcA, AuA, and control groups, and their serum (s-LRG1) and urine LRG1 (u-LRG1) levels were assayed preoperatively on the second and fifth postoperative days. Results: 153 patients participated, 97 had AA. Preoperative u-LRG1 with a cut-off value of 0.18 µg/mL generated an area under the receiver operated characteristic (AUC) curve of 0.70 (95% CI 0.62–0.79) for AA versus control (p < 0.001), while the results for AcA versus AuA were not significant (AUC 0.60, 95% CI 0.49–0.71, p = 0.089). The s-LRG1 levels of AA versus the control with a cut-off value of 51.69 µg/mL generated an AUC of 0.94 (95% CI 0.91–0.99, p < 0.001). The cut-off value of s-LRG1 was 84.06 µg/mL for diagnosis of AcA from AuA, and therefore, significant (AUC 0.69, 95% CI 0.59–0.80, p = 0.001). Conclusions: LRG1 exhibited excellent diagnostic performance as an inexpensive, non-invasive, rapid, and accurate biomarker able to reflect the pathogenesis of AA. LRG1 has the potential to replace advanced imaging to diagnose clinically ambiguous AA cases.publishersversionPeer reviewe
The Effect of Dual Task on Attentional Performance in Children With ADHD
Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric disorder without validated objective markers. Oculomotor behavior and executive motor control could potentially be used to investigate attention disorders. The aim of this study was to explore an oculomotor and postural dual task in children with ADHD. Forty-two children were included in the study, gathering children with ADHD (n = 21) (mean 8.15 age ± years 0.36) and sex-, age-, and IQ-matched typically developing children (TD). Children performed two distinct fixation tasks in three different postural conditions. Eye movements and postural body sway were recorded simultaneously, using an eye tracker and a force platform. Results showed that children with ADHD had poor fixation capability and poor postural stability when compared to TD children. Both groups showed less postural control on the unstable platform and displayed more saccades during the fixation task. Surprisingly, in the dual unstable platform/fixation with distractor task, the instability of children with ADHD was similar to that observed in TD children. “Top-down” dys-regulation mediated by frontal-striatal dysfunction could be at the origin of both poor inhibitory oculomotor deficits and impaired body stability reported in children with ADHD. Finally, we could assume that the fact both groups of children focused their attention on a secondary task led to poor postural control. In the future it could be interesting to explore further this issue by developing new dual tasks in a more ecological situation in order to gain more insight on attentional processes in children with ADHD.HIGHLIGHTS– Children with ADHD showed poor fixation capability when compared to TD children.– “Top-down” dys-regulation mediated by frontal-striatal dysfunction could be at the origin of both poor inhibitory oculomotor deficits and impaired body stability reported in children with ADHD.– Both groups of children focused their attention on the visual fixation task leading to poor postural control.– In the future it could be interesting to develop new dual tasks in an ecological situation in order to gain more insight on attentional processes in children with ADHD
The beta Pictoris system: Setting constraints on the planet and the disk structures at mid-IR wavelengths with NEAR
[abridged] We analyzed mid-infrared high-contrast coronagraphic images of the
beta Pictoris system, taking advantage of the NEAR experiment using the
VLT/VISIR instrument. The goal of our analysis is to investigate both the
detection of the planet beta Pictoris b and of the disk features at mid-IR
wavelengths. In addition, by combining several epochs of observation, we expect
to constrain the position of the known clumps and improve our knowledge on the
dynamics of the disk. To evaluate the planet b flux contribution, we extracted
the photometry and compared it to the flux published in the literature. In
addition, we used previous data from T-ReCS and VISIR, to study the evolution
of the position of the southwest clump that was initially observed in the
planetary disk back in 2003. While we did not detect the planet b, we were able
to put constraints on the presence of circumplanetary material, ruling out the
equivalent of a Saturn-like planetary ring around the planet. The disk presents
several noticeable structures, including the known southwest clump. Using a
16-year baseline, sampled with five epochs of observations, we were able to
examine the evolution of the clump: the clump orbits in a Keplerian motion with
an sma of 56.1+-0.4 au. In addition to the known clump, the images clearly show
the presence of a second clump on the northeast side of the disk and fainter
and closer structures that are yet to be confirmed. We found correlations
between the CO clumps detected with ALMA and the mid-IR images. If the
circumplanetary material were located at the Roche radius, the maximum amount
of dust determined from the flux upper limit around beta Pictoris b would
correspond to the mass of an asteroid of 5 km in diameter. Finally, the
Keplerian motion of the southwestern clump is possibly indicative of a
yet-to-be-detected planet or signals the presence of a vortex.Comment: Accepted in Astronomy and Astrophysic
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearrangement, some have roles in leukocyte biology and immunodeficiency, like SPN and CORO1A. We therefore investigated leukocyte differential counts and disease in 16p11.2 CNV carriers. In our clinically-recruited cohort, we identified three deletion carriers from two families (out of 32 families assessed) with neutropenia and lymphopenia. They had no deleterious single-nucleotide or indel variant in known cytopenia genes, suggesting a possible causative role of the deletion. Noticeably, all three individuals had the lowest copy number of the human-specific BOLA2 duplicon (copy-number range: 3-8). Consistent with the lymphopenia and in contrast with the neutropenia associations, adult deletion carriers from UK biobank (n = 74) showed lower lymphocyte (Padj = 0.04) and increased neutrophil (Padj = 8.31e-05) counts. Mendelian randomization studies pinpointed to reduced CORO1A, KIF22, and BOLA2-SMG1P6 expressions being causative for the lower lymphocyte counts. In conclusion, our data suggest that 16p11.2 deletion, and possibly also the lowest dosage of the BOLA2 duplicon, are associated with low lymphocyte counts. There is a trend between 16p11.2 deletion with lower copy-number of the BOLA2 duplicon and higher susceptibility to moderate neutropenia. Higher numbers of cases are warranted to confirm the association with neutropenia and to resolve the involvement of the deletion coupled with deleterious variants in other genes and/or with the structure and copy number of segments in the CNV breakpoint regions
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Akūts skrotuma sindroms bērnu vecumā – 5 gadu retrospektīvs pētījums; sēklinieka torsijas, sēklinieka piedēkļa torsijas un epididimīta izvērtējums
MedicīnaVeselības aprūpeMedicineHealth CareIevads: Akūts sēklinieka sindroms ir viena no biežākajām akūtajām ķirurģiskajām saslimšanām bērniem. Ir kritiski nozīmīgi agrīni diegnosticēt testis torsiju un diferencēt to no citām saslimšanām, kuras rada sēklinieku maisiņa sāpes, lai nodrošinātu agrīnu un adektāvu ārstēšanu, tā palielinot iespēju saglabāt testis dzīvotspēju.
Mērķi: Pētījuma mērķis bija novērtēt bērnu ārstēšanas un diagnostikas norisi un tās ietekmi uz iznākumu no simptomu sākuma brīža līdz ārstēšanas uzsākšanai Bērnu klīniskās universitātes slimnīcā ārstētajiem bērniem.
Materiāli un metodes: Tika veikta retrospektīva datu analīze Neatliekamās palīdzības nodaļas pacientiem vecumā no 1 līdz 18 gadiem laika posmā no 2014. gada janvāra līdz 2019. gadam. Tika izsekota notikumu norise laikā no pirmajiem simptomiem līdz iestāšanās brīdim Nealiekamās palīdzības nodaļā, attēldiagnostikai, diagnozes uzstādīšanai un ķirurģiskai ārstēšanai. No pacientu vēsturēs esošās informācijas tika aprēķināta Acute Scrotum Score (ASS), lai izvērtētu torsijas risku.
Rezultāti: No 513 pētījumā iekļautajiem pacientiem 107 bija diagnosticēta testis torsija, 302 tika konsatēta sīklinieka piedēkļa torsija un 104 epididimoorhīts. No šiem pacientiem 463 (90.3%) tika veikta ķirurģiska ārstēšana, un pārējie 50 (9.7%) tika ārstēti konservatīvi. Testis dzīvotspēja tika saglabāta 81 (75.7%) gadījumā un orhidektomija tika veikta 26 (24.3%) pacientiem, kuri vēlīni vērsās pēcpalīdzības Neatliekamās palīdzības nodaļā. ROC testā ASS atlases vērtība zema riska grupā esošajiem pacientiem bija 5, savukārt augsta riska grupas pacientiem 6 ar pozitīvo paredzes vērtību 93.1% un patiesi negatīvo vērtību 65.9% (p<0.001).
Secinājumi: Novēlota iestāšanās Neatliekamās palīdzības nodaļā ir viens no rādītājiem, kuru potenciāli varētu mainīt. Veicot jaunu vīriešu un bērnu vecāku izglītošanu ar veselību saistītos jautājumos, varētu efektīvi samazināt laiku no simptomu sākumā līdz iestāšanās brīdim stacionārā, kā rezultātā būtu iespējams uzlabot testis saglabāšanas rādītājus. Turklāt, Acute Scrotum Score varētu tikt izmantots kā līdzeklis agrīnai testis torsijas diagnostikai, jo šajā pētījuma populācijā tas uzrādīja augstu paredzes vērtību.Background: Acute scrotal pain is one of the most common pediatric complaints presenting to the Emergency Department. Differentiating and diagnosing testicular torsion from other causes of testicular pain on time is critically important in order to improve salvage rates of affected testes and therefore requires adequate management.
Aim: The objective of our study was to evaluate the timeline of a patient with acute scrotum and its impact on the outcome of treatment from onset of symptoms until the treatment of young children who presented to the Children’s Clinical University Hospital in Riga, Latvia.
Materials and Methods: A retrospective review of children presenting to the Emergency Department between the ages of 1 to 18 years with acute scrotal pain from January 2014 till 2019 was done. A timeline was established from first onset of symtpoms to admission to the Emergency Department, imaging, diagnosis and surgical findings, in that order respectively. Through medical records, an Acute Scrotum Score (ASS) was established to predict risk of torsion.
Results: Out of 513 patients included in the study, 107 had a testicular torsion, 302 a torsion of the testicular appendage and 104 epididymo-orchitis. From these cases, 463 (90.3%) children underwent exploratory surgery, and the remaining 50 (9.7%) were managed conservatively. Testicular salvation was achieved in 81 (75.7%) patients and orchiectomy was performed in 26 (24.3%) due to a delayed presentation to the Emergency Department. ROC curve analysis had ASS cutoff values of 5 and 6 points for low and high-risk groups respectively, with a positive predictive value of 93.1% and true negative value of 65.9% (p<0.001).
Conclusions: Delayed presentation to the Emergency Department is a modifiable outcome. By implementation of health care education targeting both parents and young males, it could serve as an effective method in order to promote early presentation and thus increasing testicular salvage. Furthermore, the Acute Scrotum Score could potentially be used as an early diagnostic tool, as it was a highly predictive method in our study population, especially in clinics where trained pediatric surgeons are not available
Considérations prothétiques chez le patient bruxomane
Le bruxisme est encore mal compris par les études cliniques, pourtant nombreuses à ce sujet, notamment sur son étiopathogénie, son diagnostic et son traitement. Lors de la prise en charge d un patient bruxomane au cabinet dentaire, il faudra alors intégrer la gestion de la parafonction dans nos traitements, au travers d une analyse pré-prothétique rigoureuse : une prothèse de petite à moyenne étendue devra s inscrire dans le schéma occlusal du patient, si celui-ci est fonctionnel ; un traitement global devra limiter les effets délétères du bruxisme grâce à une occlusion précise, une morphologie prothétique adaptée et un choix des matériaux de restauration réfléchi. Tous les types de prothèses, amovible, fixée ou implanto-portée, sont envisageables chez le patient bruxomane, à condition que certains critères essentiels soient respectés. Ces recommandations restent néanmoins basées sur des expériences cliniques, peu d études étant disponibles concernant la conduite à tenir chez les patients bruxomanes. Aucune thérapeutique ne doit être entreprise sans l adhésion complète du patient à celle-ci, notamment concernant du port d une gouttière occlusale de protection en fin de traitement, qui reste nécessaire pour améliorer le pronostic.Bruxism is still misunderstood by clinical studies, nevertheless many about this subject, particularly about its pathogenesis, diagnosis and treatment. When taking care of a bruxist patient in the dental office, the parafunction should be integrated into our treatments, through a rigorous pre-prosthetic analysis : a prosthesis small to medium extent should be part of the scheme occlusion of the patient, if it is functional ; an extensive treatment will limit the deleterious effects of bruxism through a precise occlusion, a prosthetic suitable morphology and a reflected choice about restorative materials. All types of prostheses, removable, fixed or implant-supported, are possible for the bruxist patient, provided that some essential criteria are respected. These recommendations are still based on clinical experience, few studies are available regarding the prosthetic treatment in patients with bruxism. No treatment should be undertaken without the full patient adherence to it, especially regarding the wearing of a protective occlusal splint at the end of treatment, which is needed to improve the prognosis.BORDEAUX1-Bib.electronique (335229901) / SudocSudocFranceF
Incidence and risk factors of caesarean section in preterm breech births: A population-based cohort study
International audienceObjectives: To describe the incidence of breech presentation at 22–34 weeks’ gestation, estimate the incidence of cesarean section delivery by cause of prematurity, and assess the factors associated with caesarean delivery in preterm breech births with preterm labor or preterm premature rupture of membranes.Study design: EPIPAGE 2 is a French national prospective population-based cohort study of preterm births that occurred in 546 maternity units in 2011. We estimated the overall incidence of breech presentation and the incidence of cesarean delivery by cause of prematurity. Among the 579 singletons with breech presentation born at 22–34 weeks in a context of spontaneous preterm labor or membrane rupture, multivariable logistic regression was used to assess the association between individual and institutional characteristics and caesarean delivery.Results: Among the 3660 singletons born at 22–34 weeks’ gestation in the EPIPAGE 2 study, 20.1% (n = 911) were breech presentation. Among these births, the rate of cesarean section was 99.6% with vascular pathologies, intrauterine growth retardation or placental abruption as compared with 60.1% with spontaneous preterm labor or membrane rupture. The main indication for caesarean delivery was gestational age associated with breech presentation (61.0%). Delivery mode varied by region of birth. Other characteristics associated with caesarean delivery were hospital status (public teaching, public non-teaching or private), clinical chorioamniotitis, hospital admission after labor onset, and gestational age.Conclusion: Breech presentation is common in preterm infants and is associated with widespread use of cesarean delivery with significant regional disparities that could reflect the lack of consensus and recommendations on the preferential mode of delivery. Other factors associated with caesarean delivery are the status of the maternity unit, clinical chorioamniotitis, admission after labor onset and gestational age
Association between suicidal spectrum behaviors and Attention-Deficit/Hyperactivity Disorder: A systematic review and meta-analysis
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