Diagnosis of long QT syndrome (LQTS) is difficult. A prolonged QT interval is easily overlooked, and in 10% of all patients with LQTS, the QT interval is normal. Genotyping is unfortunately not able to detect all patients and healthy subjects correctly. Although QT prolongation is the most used risk parameter, there is no clear correlation between the prolonged QT interval and the risk of arrhythmias in drug-induced LQTS. Quantification of T-wave morphology is a promising method that is able to provide more information about repolarization than QT prolongation alone. It is a fact that ECG evaluation can serve as a guide for genotyping and can reduce the costs by suggesting which gene to start sequencing, but it is fiction that the ECG can replace genotyping.
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http://dx.doi.org/10.1016/j.jelectrocard.2006.06.008 | DOI Listing |
NMC Case Rep J
December 2024
Department of Neurology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Shunt dependence syndrome is a serious long-term complication characterized by symptoms and signs of increased intracranial pressure with normal-sized lateral ventricles after several years of arachnoid cyst-peritoneal shunting. It is easy to misdiagnose and overlook when combined with sinus stenosis, thus delaying treatment. Here, we present a 35-year-old man with an unexplained headache and binocular horizontal diplopia with high intracranial pressure.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Obstetrics and Gynaecology, Assiut University, Assiut, Egypt.
Oxidative stress (OS) is established as a key factor in the etiology of both male and female infertility, arising from an imbalance between reactive oxygen species (ROS) production and the endogenous antioxidant (AOX) defenses. In men, OS adversely affects sperm function by inducing DNA damage, reducing motility, significantly impairing sperm vitality through plasma membrane peroxidation and loss of membrane integrity, and ultimately compromising overall sperm quality. In women, OS is implicated in various reproductive disorders, including polycystic ovary syndrome, endometriosis, and premature ovarian failure, leading to diminished oocyte quality, disrupted folliculogenesis, and poorer reproductive outcomes.
View Article and Find Full Text PDFEXCLI J
November 2024
Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, "Attikon" University Hospital, Athens, Greece.
Since the outbreak of the COVID-19 pandemic, there has been a global surge in patients presenting with prolonged or late-onset debilitating sequelae of SARS-CoV-2 infection, colloquially termed long COVID. This narrative review provides an updated synthesis of the latest evidence on the neurological manifestations of long COVID, discussing its clinical phenotypes, underlying pathophysiology, while also presenting the current state of diagnostic and therapeutic approaches. Approximately one-third of COVID-19 survivors experience prolonged neurological sequelae that persist for at least 12-months post-infection, adversely affecting patients' quality of life.
View Article and Find Full Text PDFEClinicalMedicine
February 2025
Division of Respiratory Medicine, Department of Pediatrics, University of California San Diego, Rady Children's Hospital of San Diego, San Diego, CA, USA.
Background: Children from racial and ethnic minority groups are at greater risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, but it is unclear whether they have increased risk for post-acute sequelae of SARS-CoV-2 (PASC). Our objectives were to assess whether the risk of respiratory and neurologic PASC differs by race/ethnicity and social drivers of health.
Methods: We conducted a retrospective cohort study of individuals <21 years seeking care at 24 health systems across the U.
Cardiol Young
January 2025
Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
This report describes the first long-term survival following a heart transplant for Williams syndrome-associated cardiac pathologies. An 11-year-old patient with severe global left ventricular dysfunction presented with heart failure and underwent heart transplantation. Her peri- and post-operative courses were complicated by hypertension related to underlying vascular pathology.
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