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1.
Front Pediatr ; 12: 1399382, 2024.
Article in English | MEDLINE | ID: mdl-38577635

ABSTRACT

[This corrects the article DOI: 10.3389/fped.2024.1307565.].

2.
Front Pediatr ; 12: 1307565, 2024.
Article in English | MEDLINE | ID: mdl-38434728

ABSTRACT

Background: Critically ill children must often be transported long distances for access to critical care resources in Canada. This study aims to describe and compare characteristics and outcomes in patients presenting in the community and requiring inter-facility transport and admission to a Pediatric Intensive Care Unit (PICU). Methods: This is a retrospective cohort study of children admitted to the ICU at the Hospital for Sick Children from 2016 to 2019 after inter-facility transport. Characteristics and outcomes were compared between children admitted to the PICU within 24 h from their initial critical care transport request, and children admitted after initial redirection to a non-ICU care setting, 24-72 h from request. The primary outcome was severity of illness at PICU admission. Secondary outcomes included duration of mechanical ventilation, organ dysfunction, PICU length of stay and mortality. Results: A total of 2,730 patients were admitted after inter-facility transport to either the medical/surgical or cardiac ICU within 72 h of initial critical care transport request. Of these children, 2,559 (94%) were admitted within 24 h and 171 (6%) were admitted between 24 and 72 h. Children admitted after initial redirection were younger and residing in more rural centers. Children who were initially redirected had lower severity of illness (PRISM-IV median score 3 vs. 5, p = 0.047) and lower risk of mortality. Interpretation: Initial redirection to a non-ICU care setting rather than directly admitting to the PICU did not result in increased severity of illness or mortality. This study highlights the need to better understand which factors influence disposition decision-making at the time of initial transport request. Further research should focus on the impact of transport factors on clinical outcomes after PICU admission.

3.
Clin Genet ; 82(3): 248-55, 2012 Sep.
Article in English | MEDLINE | ID: mdl-21801163

ABSTRACT

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe intellectual disability to normal cognitive function. The etiology is expected to be genetic in as much as 30-50% of the cases, but the underlying genetic cause remains unknown in the majority of cases. By next-generation mate-pair sequencing we mapped the chromosomal breakpoints of a patient with a de novo balanced translocation, t(1;6)(p31;q25), agenesis of corpus callosum (CC), intellectual disability, severe speech impairment, and autism. The chromosome 6 breakpoint truncated ARID1B which was also truncated in a recently published translocation patient with a similar phenotype. Quantitative polymerase chain reaction (Q-PCR) data showed that a primer set proximal to the translocation showed increased expression of ARID1B, whereas primer sets spanning or distal to the translocation showed decreased expression in the patient relative to a non-related control set. Phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing ARID1B confirms that haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism. Our findings emphasize that ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular.


Subject(s)
Abnormalities, Multiple/genetics , Agenesis of Corpus Callosum/genetics , Autistic Disorder/genetics , DNA-Binding Proteins/genetics , Intellectual Disability/genetics , Speech Disorders/genetics , Transcription Factors/genetics , Adult , Child, Preschool , Haploinsufficiency , Humans , Male , Middle Aged
4.
Pharmacol Biochem Behav ; 9(3): 307-13, 1978 Sep.
Article in English | MEDLINE | ID: mdl-714980

ABSTRACT

A series of related experiments was conducted to examine the effects of scopolamine on discrimination performance in the presence or absence of a stimulus signalling non-reinforcement. In Experiment 1, rats trained to respond on 1 of two levers in the presence of a 1000-Hz tone and on the other lever in the presence of a 3000-Hz tone were not reinforced when white noise was added to 1 of the tones. Pairing white noise with the other tone during an extinction session demonstrated that the white noise had become a conditioned inhibitory stimulus. In Experiment 2, scopolamine decreased responding and discrimination accuracy on the excitatory (reinforced) trials, and increased responding on the inhibitory (non-reinforced) trials. The magnitude of the drug's effect was similar on excitatory and inhibitory trials. Using combination of visual and auditory discriminative stimuli, Experiment 3 confirmed the results of Experiment 2. These experiments show that scopolamine disrupts animals' ability to discriminate, and that scopolamine-induced increases in non-rewarded responses cannot be attributed solely to a disinhibitory effect of the drug as Carlton (1969) and others have claimed.


Subject(s)
Conditioning, Classical/drug effects , Inhibition, Psychological , Scopolamine/pharmacology , Animals , Auditory Perception/drug effects , Discrimination, Psychological/drug effects , Male , Rats , Visual Perception/drug effects
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