Journal of medical case reports
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Catecholaminergic polymorphic ventricular tachycardia is an inherited disease presenting with arrhythmic events during physical exercise or emotional stress. If untreated, catecholaminergic polymorphic ventricular tachycardia is a highly lethal condition: About 80% of affected individuals experience recurrent syncope, and 30% experience cardiac arrest. Catecholaminergic polymorphic ventricular tachycardia is caused by mutations in genes encoding ryanodine receptor type 2 (RyR2) and cardiac calsequestrin (CASQ2). In cases of sympathoadrenergic activation, both mutations result in a spontaneous Ca2+ release in cardiac cells, facilitating ventricular arrhythmias. ⋯ We present a case of catecholaminergic polymorphic ventricular tachycardia associated with a novel single point mutation in the RyR2 gene, which, to the best of our knowledge, has not been described in the literature so far. Our patient experienced arrhythmic events under both resting conditions and physical activity, an uncommon finding in patients with catecholaminergic polymorphic ventricular tachycardia. This novel mutation may cause arrhythmias independent of sympathoadrenergic stimulation, but further evidence is needed to prove causality.
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TAFRO syndrome, which was first reported in 2010 in Japan, is a relatively rare disease characterized by thrombocytopenia, anasarca, fever, renal impairment, reticulin fibrosis, and organomegaly. Although this disease is considered similar to multicentric Castleman disease, some of the clinical features, such as thrombocytopenia, are different from typical cases of multicentric Castleman disease. In addition, the etiology of TAFRO syndrome remains unknown and controversial. There have only been a few cases of TAFRO syndrome complicated with adrenal gland lesions, and all of them have had hemorrhagic involvement. ⋯ There have been no previous reports of a case of TAFRO syndrome complicated with adrenal necrosis. Because the biopsy of the left adrenal gland revealed necrosis without any evidence of hemorrhage, we concluded that the unilateral adrenal necrosis in this case was caused by either ischemia from infarction or organomegaly itself under severe hypercytokinemia. This unusual clinical course is useful for further analysis of the etiology of TAFRO syndrome.
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Case Reports
Massive hemothorax due to two bleeding sources with minor injury mechanism: a case report.
Massive hemothorax resulting from a minor injury mechanism is considered to be rare particularly when the diaphragm is injured. We report a case of massive hemothorax with bleeding from the intercostal artery and diaphragmatic damage caused by minor blunt trauma. ⋯ Minor mechanisms of blunt trauma can cause rib fractures and massive hemothorax. Traumatic diaphragm injury should be considered a differential diagnosis if hemodynamic instability persists after transcatheter arterial embolization in patients with lower level rib fractures.
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Case Reports
The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report.
The use of electrocardiogram for sex verification in adults is an emerging concept in medicine. It is feasible through the utilization of Ogunlade Sex Determination Electrocardiographic Score. The aim of this study was to use an electrocardiogram to verify the sex of a woman with primary amenorrhea. ⋯ This report concluded that an electrocardiogram as a cheap, readily available and non-invasive test has a role in sex verification in young adults with primary amenorrhea.
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Case Reports
Chilaiditi syndrome - a rare case of pneumoperitoneum in the emergency department: a case report.
Pneumoperitoneum poses an important diagnostic sign determining the urgency of management of patients in an emergency department. Chilaiditi sign is a rare radiologic finding of large intestines transposition between the diaphragm and the liver. If the patient becomes symptomatic, then the condition is called Chilaiditi syndrome. ⋯ A review of the current literature on Chilaiditi syndrome is provided with a focus on increasing the familiarity of health care professionals with the conditions and stressing the importance of a physical examination in evaluating patients with what appears to be air under the diaphragm.