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2.
J Pediatr Genet ; 10(3): 250-252, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34504731

RESUMEN

We reported on a 3-year-old girl child patient with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case report highlighted the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

3.
PM R ; 11(1): 94-97, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-29860021

RESUMEN

During rehabilitation from a severe traumatic brain injury, a 16-year-old girl became aware that she had lost the ability to laugh out loud. This rare phenomenon previously has been described as "aphonogelia." A discussion of therapeutic avenues that were explored with this patient is presented in the first case, to our knowledge, of aphonogelia after a traumatic brain injury. LEVEL OF EVIDENCE: V.


Asunto(s)
Afonía/etiología , Lesiones Traumáticas del Encéfalo/complicaciones , Lesiones Traumáticas del Encéfalo/rehabilitación , Risa , Accidentes de Tránsito , Adolescente , Afonía/fisiopatología , Afonía/rehabilitación , Lesiones Traumáticas del Encéfalo/diagnóstico , Femenino , Estudios de Seguimiento , Escala de Coma de Glasgow , Humanos , Puntaje de Gravedad del Traumatismo , Medición de Riesgo
4.
Can Med Educ J ; 8(1): e44-e51, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28344715

RESUMEN

BACKGROUND: Emotional Intelligence (EI) is a type of social intelligence. Excellent scores are achieved by displaying high levels of empathy in interpersonal relationships, strong skills in managing stressful situations as well as other personal competencies. Many of the social competencies that EI describes may have a direct impact on patient care. The objective of this study was to describe EI of pediatric residents and to identify if there are EI skills that should be selected for targeted intervention. METHODS: This was a cross-sectional study administering the EQ-i 2.0© psychometric instrument to pediatric residents at the University of Alberta. RESULTS: Thirty-five residents completed the EQ-i 2.0© (100% response rate). Their overall EI score was not significantly different than a normative group of college-educated professionals. Residents had relative strengths in the subcategories of Emotional expression, Interpersonal Relationships, Empathy, and Impulse Control (all p<0.05). Areas of relative weakness were in the subcategories of Stress Tolerance, Assertiveness, Independence, and Problem Solving (all p<0.05). CONCLUSION: The EI of pediatric residents is consistent with that of other professionals. Educational interventions may be useful in the areas of weakness to enhance the physician-patient relationship.

5.
Case Rep Neurol Med ; 2016: 5240274, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27293928

RESUMEN

Introduction. Acute complete external ophthalmoplegia is a rare finding in clinical practice that is associated with diseases affecting the neuromuscular junction, the oculomotor nerves, or the brainstem. Ophthalmoplegia has been reported with acute ataxia in Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE). Up to 95% of these cases are associated with anti-GQ1b antibodies. Only a small number of cases of anti-GQ1b negative MFS have been documented in pediatric patients. This is the first case reporting a recurrence of ocular symptoms in an anti-GQ1b antibody negative patient with BBE. Case Presentation. An 8-year-old Caucasian boy presented with complete external ophthalmoplegia without ptosis, cerebellar ataxia, and a disturbance of consciousness. He had recently recovered from a confirmed Campylobacter jejuni infection. On subsequent laboratory testing he was anti-GQ1b antibody negative. He had a recurrence of diplopia at four-week follow-up. Conclusions. This patient's recurrence of diplopia was treated with a five-week course of oral corticosteroids which did not worsen his condition, and this may be a therapeutic option for similar patients. We will discuss the symptoms and treatment of reported pediatric cases of anti-GQ1b antibody negative cases of MFS and the variation between cases representing a spectrum of illness.

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