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Emotional response to a high-fidelity trauma simulation: An observational study.

  • Duque P
  • Quintillá Martínez JM
  • Varela JA
  • Garrido P
  • Valencia Ó
  • Maestre JM
The emotional environment created during a simulation session can influence learning. Positive emotions improve perceptual processing and facilitate learning, while negative emotions can reduce working memory, resulting in poorer learning outcomes.

Recomendaciones de la Sociedad Española de Cardiología Pediátrica y Cardiopatías Congénitas en relación con el uso de medicamentos en el trastorno por déficit de atención e hiperactividad en niños y adolescentes con cardiopatías conocidas y en la población pediátrica general, posicionamiento de la Asociación Española de Pediatría.

  • Pérez-Lescure Picarzo J
  • Centeno Malfaz F
  • Collell Hernández R
  • Crespo Marcos D
  • Fernández Soria T
  • Manso García B
  • Rojo Sombrero H
  • Sabaté Rotés A
  • Sarquella-Brugada G
Approved drugs for attention deficit hyperactivity disorder (ADHD) in Spain are methylphenidate, lisdexamphetamine, atomoxetine and guanfacine. Due to adverse cardiovascular effects, mainly increased blood pressure and heart rate, its use in patients with known or undiagnosed heart disease may be controversial.

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

  • Leon E
  • Diaz J
  • Castilla-Vallmanya L
  • Grinberg-Vaisman DR
  • Balcells S
  • Urreizti R
Bohring-Opitz syndrome (BOS) has been described as a clinically recognizable genetic syndrome since 1999. Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, facial nevus flammeus, failure to thrive, and severe developmental delays. The same year, different de novo heterozygous nonsense mutations in the ASXL1 were found in affected individuals. Since then, several cases have been reported confirming the association between this chromatin remodeling gene and BOS. Most affected individuals die in early childhood because of unexplained bradycardia, obstructive apnea, or pulmonary infections. Those that survive usually cannot walk independently and are nonverbal. Some have had success using walkers and braces in late childhood. While few are able to speak, many have been able to express basic needs using communication devices as well as gestures with associated basic vocalizations. In this article, we present a mild case of BOS with a de novo pathogenic mutation c.1720-2A>G (p.I574VfsX22) in ASXL1 detected on whole-exome sequencing and confirmed by functional analysis of the messenger RNA splicing pattern on the patient's fibroblasts. She has typical dysmorphic features and is able to run and walk independently as well as to communicate with basic sign language.

Relationship between sexual orientation and psychotic experiences in the general population in England.

  • Jacob L
  • Smith L
  • McDermott D
  • Haro JM
  • Stickley A
  • Koyanagi A
Non-heterosexual individuals are at high risk for a variety of factors associated with the emergence of psychotic experiences (PEs) (e.g. common mental disorders, substance use, and stress). However, there is a scarcity of data on the association between sexual orientation and PEs. Therefore, the aim of this study was to examine the sexual orientation-PE relationship, and to identify potential mediators in this relationship.

Prospective associations of cardiovascular disease with physical performance and disability : A longitudinal cohort study in the Osteoarthritis Initiative.

  • Veronese N
  • Stubbs B
  • Jackson SE
  • Koyanagi A
  • Noventa V
  • Bolzetta F
  • Cester A
  • Soysal P
  • Maggi S
  • López-Sánchez GF
  • Loosemore M
  • Demurtas J
  • Smith L
Literature regarding cardiovascular disease (CVD) and incident physical performance limitations and disability in older people is equivocal.

Increased subcortical neural responses to repeating auditory stimulation in children with autism spectrum disorder.

  • Font-Alaminos M
  • Cornella M
  • Costa-Faidella J
  • Hervás A
  • Leung S
  • Rueda I
  • Escera C
Recent research has highlighted atypical reactivity to sensory stimulation as a core symptom in children with autism spectrum disorder (ASD). However, little is known about the dysfunctional neurological mechanisms underlying these aberrant sensitivities. Here we tested the hypothesis that the ability to filter out auditory repeated information is deficient in children with ASD already from subcortical levels, yielding to auditory sensitivities. We recorded the frequency-following response (FFR), a non-invasive measure of the neural tracking of the periodic characteristics of a sound in the subcortical auditory system, to compare repetition-related effects in children with ASD and typically developing children. Results revealed an increase of the FFR with stimulus repetition in children with ASD compared to their peers. Moreover, such defective early sensory encoding of stimulus redundancy was associated with sensory overload. These results highlight that auditory sensitivities in ASD emerge already at the level of the subcortical auditory system.

Determination of the steroid profile in alternative matrices by liquid chromatography tandem mass spectrometry.

  • Gomez-Gomez A
  • Miranda J
  • Feixas G
  • Arranz Betegon A
  • Crispi F
  • Gratacós E
  • Pozo OJ
The simultaneous determination of a broad panel of steroids provides more accurate information about the hormonal status than the detection of a single hormone. For that reason, the determination of the steroid profile, i.e. the endogenous steroid hormones and their main metabolites, has become the most powerful tool for the study of hormonal imbalances. The usefulness of the evaluation of the steroid profile in urine and plasma is widely accepted. However, despite its broad potential applicability, the evaluation of the whole steroid profile in alternative matrices such as amniotic fluid, saliva and breast milk remains almost unexplored. In this research we developed and validated a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the quantification of several steroids and their metabolites in amniotic fluid (28 analytes), saliva (15) and breast milk (12). Sample preparation, chromatographic conditions and mass spectrometric conditions (e.g. ionization species or ion source parameters) were optimized. The method was shown to be linear in the range of endogenous concentrations for all studied metabolites. Intra- and inter-assay accuracies were between 80% and 120% while intra- and inter-precisions were below 20% for all analytes in all matrices. The applicability of the method was evaluated by the comparison between the concentration ranges obtained in healthy volunteers (n?=?30 per matrix) and the scarce data previously reported in literature. The concentration ranges for several analytes are reported for the first time. The present methodology represents a useful tool for the comprehensive evaluation of the steroid profile in alternative matrices and can be applicable for different clinical purposes.

Complement Activation and Thrombotic Microangiopathies.

  • Palomo M
  • Blasco M
  • Molina P
  • Lozano M
  • Praga M
  • Torramade-Moix S
  • Martinez-Sanchez J
  • Cid J
  • Escolar G
  • Carreras E
  • Paules C
  • Crispi F
  • Quintana LF
  • Poch E
  • Rodas L
  • Goma E
  • Morelle J
  • Espinosa M
  • Morales E
  • Avila A
  • Cabello V
  • Ariceta G
  • Chocron S
  • Manrique J
  • Barros X
  • Martin N
  • Huerta A
  • Fraga-Rodriguez GM
  • Cao M
  • Martin M
  • Romera AM
  • Moreso F
  • Manonelles A
  • Gratacós E
  • Pereira A
  • Campistol JM
  • Diaz-Ricart M
Atypical hemolytic uremic syndrome is a form of thrombotic microangiopathy caused by dysregulation of the alternative complement pathway. There is evidence showing complement activation in other thrombotic microangiopathies. The aim of this study was to evaluate complement activation in different thrombotic microangiopathies and to monitor treatment response.

Impact of monitoring on detection of arrhythmia recurrences in the ESC-EHRA EORP atrial fibrillation ablation long-term registry.

  • Balabanski T
  • Brugada-Terradellas J
  • Arbelo E
  • Laroche C
  • Maggioni A
  • Blomström-Lundqvist C
  • Kautzner J
  • Tavazzi L
  • Tritto M
  • Kulakowski P
  • Kalejs O
  • Forster T
  • Villalobos FS
  • Dagres N
  • ESC-EHRA Atrial Fibrillation Ablation Long-Term Registry investigators Group
Monitoring of patients after ablation had wide variations in the ESC-EHRA atrial fibrillation ablation long-term (AFA-LT) registry. We aimed to compare four different monitoring strategies after catheter AF ablation.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

  • Tenorio J
  • Alarcón P
  • Arias P
  • Dapía I
  • García-Miñaur S
  • Palomares Bralo M
  • Campistol-Plana J
  • Climent S
  • Valenzuela I
  • Ramos S
  • Monseny AM
  • Grondona FL
  • Botet J
  • Serrano M
  • Solís M
  • Santos-Simarro F
  • Álvarez S
  • Teixidó-Tura G
  • Fernández Jaén A
  • Gordo G
  • Bardón Rivera MB
  • Nevado J
  • Hernández A
  • Cigudosa JC
  • Ruiz-Pérez VL
  • Tizzano EF
  • SOGRI Consortium
  • Lapunzina P
Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic, and lymphoid cancers. Germline gain-of-function variants in this gene have been recently implicated in microcephalic dwarfism. Common clinical features of patients with TBRS include tall stature, macrocephaly, intellectual disability (ID), and a distinctive facial appearance. Differential diagnosis of TBRS comprises Sotos, Weaver, and Malan Syndromes. The majority of these disorders present other clinical features with a high clinical overlap, making necessary a molecular confirmation of the clinical diagnosis. We here describe seven new patients with variants in DNMT3A, four of them with neuropsychiatric disorders, including schizophrenia and psychotic behavior. In addition, one of the patients has developed a brain tumor in adulthood. This patient has also cerebral atrophy, aggressive behavior, ID, and abnormal facial features. Clinical evaluation of this group of patients should include a complete neuropsychiatric assessment together with psychological support in order to detect and manage abnormal behaviors such as aggressiveness, impulsivity, and attention deficit-hyperactivity disorder. TBRS should be suspected in patients with overgrowth, ID, tall stature, and macrocephaly, who also have some neuropsychiatric disorders without any genetic defects in the commonest overgrowth disorders. Molecular confirmation in these patients is mandatory.

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