Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature

Endothelial flow-mediated dilatation and exercise capacity in highly trained endurance athletes

Brachial artery ultrasound during reactive hyperemia is a noninvasive method of assessing peripheral endothelium-dependent vasodilatation. Aerobic exercise has the potential to improve local endothelial function. We sought to analyze the effects of regular aerobic training on brachial artery endothelial function in endurance athletes. We studied diameter and blood flow of the brachial artery in 32 endurance male athletes and 30 healthy male subjects. In the same subjects flow-mediated dilatation of the brachial artery was recorded by inducing an ischemia through a forearm arterial occluding cuff. Maximal oxygen consumption was significantly higher in the athletes group than in the controls (61.24 +/- 5.43 vs 44.49 +/- 2.68 ml/kg/min, p < 0.001). Flow-mediated dilatation of the brachial artery induced by forearm arterial occlusion in athletes was also higher than that of the control subjects (17.1 +/- 2.3 vs 11.2 +/- 1.7, p = 0.002). Furthermore, there was an association between flow-mediated dilatation and VO2max (r = 0.69, p < 0.001). Baseline measurements of the diameter and the blood flow volume of the brachial artery were similar in both groups. During reactive hyperemia period, the percent of the changes of endothelial diameters and flow were significantly higher in athletes than in controls. Higher flow-mediated dilatation levels in athletes reflect better vascular adaptation to habitual aerobic exercise. - endothelium; athlete; exercise; nitric oxide (C) 2005 Tohoku University Medical Press

Does Illness Perception Predict Posttraumatic Stress Disorder in Patients with Myocardial Infarction?

ABS TRACT Introduction: Myocardial infarction (MI) as a life-threatening event, carrying high risk of recurrence and chronic disabling complications, increases the risk of developing acute stress disorder (ASD), posttraumatic stress disorder (PTSD), or both. The aim of this study was to investigate the relationship between illness perceptions and having ASD, PTSD, or both in patients after MI. Met hod: Seventy-six patients diagnosed with acute MI were enrolled into our prospective study. We evaluated patients during the first week and six months after MI. Patients were assessed by using the Clinician Administered PTSD Scale (CAPS), the Hamilton Depression Rating Scale (HDRS), the Hamilton Anxiety Rating Scale (HARS), the Brief Illness Perception Questionnaire (BIPQ), and a semi-structured interview for socio-demographic characteristics during both the first and second evaluations. Re sults: Acute stress disorder (ASD) developed in 9.2% of patients and PTSD developed in 11.9% of patients with MI. Illness perception factors of &apos;consequences, identity and concern&apos; predicted the occurrence of both ASD and PTSD, whereas &apos;emotion&apos; predicted only PTSD. Conc lu si on: The factors of illness perceptions predicted the induction of ASD and PTSD in patients who had acute MI. (Arc hi ves of Neu ropsy chi atry 2014; 51: 103-109