Cardiac arrest secondary to arrhythmogenic right ventricular cardiomyopathy in an adolescent male.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare, genetically-inherited cardiomyopathy that may be fatal. We present the case of a 17 year old male who presented after a witnessed cardiac arrest with indeterminate echocardiogram and electrocardiogram (ECG) findings for a specific etiology. Genetic testing revealed a mutation in the PKP2 and DSC2 genes, consistent with ARVC. This report outlines the presentation of ARVC as an aborted sudden cardiac death episode in a previously asymptomatic teenager, investigations for ARVC and highlights the importance of adequate cardiopulmonary resuscitation in the overall prognosis. Implantable cardiac defibrillator (ICD) placement for secondary prevention is necessary.

Midodrine overdose in children: a case report and review of treatment for hypertensive emergencies.

Midodrine is an antihypotensive agent used primarily in the adult population for orthostatic hypotension and reflex syncope, postural orthostatic tachycardia syndrome (POTS), and hemodialysis-induced hypotension. Limited information about midodrine ingestion and overdose exists in children with only a single case series reported in the literature. Varying presentations of midodrine ingestion in children have not been shown to be acutely life-threatening in doses up to 50 mg. We present a case of a 12-year-old who intentionally ingested 100 mg of midodrine and presented with a hypertensive emergency and seizure activity. This is the largest reported dose ingested in a child. The patient was observed and treated with a nicardipine infusion in the pediatric intensive care unit (PICU). Prompt identification and treatment of symptoms contributed to a favorable outcome with no neurologic deficits and complete recovery from an intentional ingestion of midodrine. Mechanism, duration of action, and management of midodrine ingestion including treatment for a hypertensive emergency in children are discussed. Commonly used pharmacologic agents to treat hypertension are reviewed. This case report of a significant ingestion of midodrine reviews management of hypertensive emergencies and provides information and guidance to healthcare professionals unfamiliar with this medication and its potentially fatal effects.

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies.

Copy number variations (CNVs) involving the JAG1 gene are rare and infrequently reported in the scientific literature. Recently, a generally healthy young patient presenting with a history of behavioural concerns was referred to us. Herein, we discuss the patient, a 7-year-old female possessing a 0.797 Mb microduplication within the short arm of chromosome 20 at band 12.2. The patient generates considerable curiosity due to the rarity of her case, which includes a de novo partial duplication involving the JAG1 gene. The patient exhibits a wide range of symptoms including facial dysmorphism (dolichocephaly, round face, tented philtrum, anteverted nares, and micrognathia), clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation. Deletions in JAG1 are often linked to Alagille Syndrome; however, complete duplications have not been specifically identified as disease-causing. JAG1 mutations are reported alongside various clinical features including facial dysmorphology, heart defects, vertebral abnormalities, and ocular dysmorphic features (strabismus, epicanthal folds, and slanted palpebral fissures). This particular microduplication is rare, and thus, limited data exist regarding its significance. To our knowledge, most reported duplications are larger than 0.797 Mb. This may define a critical region causing phenotypical changes in some patient cases.

Comparison of arthroplasty trial publications after registration in ClinicalTrials.gov.

In 2005, the International Committee of Medical Journal Editors established a mandatory trial registration before study enrollment for publication in member journals. Our primary objective was to evaluate the publication rates of arthroplasty trials registered with ClinicalTrials.gov (CTG). We further aimed to examine the consistency of registration summaries with that of final publications. We searched CTG for all trials related to joint arthroplasty and conducted a thorough search for publications resulting from registered closed trials. Of 101 closed and completed trials, we found 23 publications, for an overall publication rate of 22.8%. Registration of arthroplasty trials in CTG does not consistently result in publication or disclosure of results. In addition, changes are frequently made to the final presentation of the data that are not reflected in the trial registry.

Comparison of published orthopaedic trauma trials following registration in Clinicaltrials.gov.

BACKGROUND: After the Food and Drug Administration Modernization Act of 1997, the registration of all clinical trials became mandatory prior to publication. Our primary objective was to determine publication rates for orthopaedic trauma trials registered with ClinicalTrials.gov. We further evaluated methodological consistency between registration and publication. METHODS: We searched Clinical Trials.gov for all trials related to orthopaedic trauma. We excluded active trials and trials not completed by July 2009, and performed a systematic search for publications resulting from registered closed trials. Information regarding primary and secondary outcomes, intervention, study sponsors, and sample size were extracted from registrations and publications. RESULTS: Of 130 closed trials, 37 eligible trials resulted in 16 publications (43.2%). We found no significant differences in publication rates between funding sources for industry sponsored studies and nongovernment/nonindustry sponsored studies (p > 0.05). About half the trials (45%) did not include the NCT ID in the publication. Two (10%) publications had major changes to the primary outcome measure and ten (52.6%) to sample size. CONCLUSIONS: Registration of orthopaedic trauma trials does not consistently result in publication. When trials are registered, many do not cite NCT ID in the publication. Furthermore, changes that are not reflected in the registry of the trial are frequently made to the final publication.

Meta-analysis and systematic review of clinical outcomes comparing mobile bearing and fixed bearing total knee arthroplasty.

Mobile bearing (MB) knee replacements were designed with the goal of increased conformity and decreased bearing wear. We conducted a meta-analysis and systematic review of randomized controlled trials comparing outcomes of MB and fixed bearing (FB) total knee arthroplasty (TKA). We identified 14 studies reporting our primary outcome of Knee Society Scores (KSS). We also pooled data for post-operative range of motion (ROM) and Hospital for Special Surgery scores (HSS). The standard difference in mean outcome scores for KSS and HSS demonstrated no difference between groups (P = .902, and P = .426 respectively). Similarly, the pooled data for ROM showed no difference between groups (P = .265). The results of this study found no significant differences between clinical outcomes of MB and FB TKA.