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1.
Heart Vessels ; 32(2): 229-233, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27401738

RESUMO

We report the case of a 12-year-old female patient with a history of four syncopal episodes related to exercise over 2 years and who showed prominent QTc prolongation on electrocardiogram; therefore, she was clinically diagnosed with long QT syndrome type-1. However, genetic analysis did not identify any LQT-related genes but showed a rare missense variant in the cardiac ryanodine receptor gene. From the results of drug-loading tests, administration of oral propranolol was initiated; thereafter, she experienced no syncopal episodes. This is a case report demonstrating the "overlapping clinical features" of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.


Assuntos
Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/genética , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/genética , Criança , Eletrocardiografia , Feminino , Testes Genéticos , Humanos , Mutação de Sentido Incorreto , Síncope/etiologia
2.
Pediatr Rep ; 6(2): 5090, 2014 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-24987508

RESUMO

Pulled elbow is a common upper extremity injury in children. We present a retrospective study of 2331 pulled elbow cases examined in our hospital over the last ten years. All pediatric patients with a diagnosis of pulled elbow from January 2002 to December 2011 were retrospectively reviewed according to sex, age, affected arm, recurrence rate, mechanism of injury and treatment outcomes. There is no significant sex difference. The frequency of injury peaked for both boys and girls at 6 months and 2 years of age. The left arm was more affected than the right. The recurrence rate was 14%. In about 50% of cases, the cause of injury was forcible traction to the forearm. Almost all of the splinted patients, caused by severe pain or lack of mobility of the affected limb following reduction, recovered within 2 weeks, but 2 were later diagnosed with a fracture. For infants less than 1 year old, injury can often occur when rolling over. For children 1 year old or older the left arm is more commonly affected, and the frequency of injuries to the left arm increases with age, possibly because the left hand is commonly held by the guardian's dominant right hand and faster development of muscle strength in the child's dominant right arm works toward preventing injury to that arm with age.

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