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1.
Psychiatr Danub ; 31(Suppl 3): 591-594, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488796

RESUMO

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare monogenic disorder caused by mutations in the NOTCH3 gene. The clinical features are primarily neurological, which include recurrent transient ischaemic attacks, strokes, and migraines. However, psychiatric manifestations which mainly include mood disturbances have also been reported in CADASIL. Manic symptoms and bipolar disorders are rarely documented in CADASIL and existing reports generally lack detailed descriptions of the psychiatric evaluation. We discuss a case of Bipolar Affective Disorder (BD) in a British woman with a family history of CADASIL. This case provides insight into the diagnosis and management of BD as well as the possible underlying aetiologies that should be considered. The similarities between BD and CADASIL in terms of imaging, genetic, and therapeutic aspects raise the possibility of common dysfunctional pathways. BD in CADASIL may warrant greater consideration by both psychiatrists as well as non-psychiatric specialists and further studies are required to understand the pathological significance.


Assuntos
Transtorno Bipolar/complicações , CADASIL/complicações , Transtorno Bipolar/genética , Transtorno Bipolar/fisiopatologia , Transtorno Bipolar/psicologia , CADASIL/genética , CADASIL/fisiopatologia , CADASIL/psicologia , Feminino , Humanos , Transtornos de Enxaqueca/complicações , Transtornos do Humor/complicações , Mutação , Receptor Notch3/genética , Reino Unido
2.
J Refract Surg ; 32(7): 494-6, 2016 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-27400082

RESUMO

PURPOSE: To report improved visual outcome after rotation of an asymmetrical multifocal intraocular lens (IOL). METHODS: Case report. RESULTS: A 58-year-old patient underwent bilateral phacoemulsification with asymmetrical multifocal IOL implantation. Postoperative uncorrected distance visual acuity (UDVA) was 0.0 logMAR (20/20 Snellen) and uncorrected near visual acuity was 0.0 logMAR (20/20 Snellen) in both eyes. Quality of vision questionnaire scores for day and night were 5 and 7, respectively. The center of the multifocal IOL in the dominant eye was initially found to be 0.2 mm superotemporally displaced, increasing the percentage area of 'near-add' compared to 'distance-add' within the physiological pupil. Rotation of this IOL 120° clockwise greatly improved the IOL centration within the pupil center and resulted in an immediate improvement in UDVA to -0.1 logMAR (20/16 Snellen) and quality of vision questionnaire scores to 8 and 9, respectively. CONCLUSIONS: Assessment of the centration of an asymmetrical multifocal IOL is important, particularly if there are dysphotoptic or other visual complaints. [J Refract Surg. 2016;32(7):494-496.].


Assuntos
Implante de Lente Intraocular , Lentes Intraoculares , Facoemulsificação , Pseudofacia/fisiopatologia , Rotação , Transtornos da Visão/reabilitação , Acuidade Visual/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Reoperação , Inquéritos e Questionários , Transtornos da Visão/fisiopatologia
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