Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent response to carbamazepine treatment. It has been described in various populations, but not yet in an African population. Case report: In a patient who reported to clinic with side effects of carbamazepine, PRRT2 gene screening was performed based on a clinical history compatible with PKD. A common PRRT2 mutation was identified in this patient, hereby the first genetically confirmed PRRT2-associated PKD in Africa. Discussion: Reporting genetic confirmation of an unusual movement disorder from an equally unusual location shows the wide geographical distribution of PRRT2-associated disease. It also illustrates recognizability of this treatable disorder where the easiest accessible diagnostic tool is neurological history and examination

The CIRCORT database: Reference ranges and seasonal changes in diurnal salivary cortisol derived from a meta-dataset comprised of 15 field studies

Diurnal salivary cortisol profiles are valuable indicators of adrenocortical functioning in epidemiological research and clinical practice. However, normative reference values derived from a large number of participants and across a wide age range are still missing. To fill this gap, data were compiled from 15 independently conducted field studies with a total of 104,623 salivary cortisol samples obtained from 18,698 unselected individuals (mean age: 48.3 years, age range: 0.5–98.5 years, 39% females). Besides providing a descriptive analysis of the complete dataset, we also performed mixed-effects growth curve modeling of diurnal salivary cortisol (i.e., 1–16 h after awakening). Cortisol decreased significantly across the day and was influenced by both, age and sex. Intriguingly, we also found a pronounced impact of sampling season with elevated diurnal cortisol in spring and decreased levels in autumn. However, the majority of variance was accounted for by between-participant and between-study variance components. Based on these analyses, reference ranges (LC/MS–MS calibrated) for cortisol concentrations in saliva were derived for different times across the day, with more specific reference ranges generated for males and females in different age categories. This integrative summary provides important reference values on salivary cortisol to aid basic scientists and clinicians in interpreting deviations from the normal diurnal cycle

Long COVID? Fatal case report of ischemic stroke and pulmonary embolism post COVID-19 infection

Coronavirus disease 19 (COVID-19) may lead to post-COVID syndrome a few weeks to months after the infection with various symptoms. Post-COVID thromboembolic syndrome may be a result of coagulopathy that occurs in both the arterial and venous circulation. Apart from direct cellular infection, post-COVID syndrome may occur due to immune system dysregulation, endothelial injury, and hypercoagulability, leading to thrombosis. We present a 32-year-old man who was diagnosed with mild symptoms of COVID-19 infection 4 months before an acute ischemic stroke and an asymptomatic pulmonary embolism. A COVID-19 antigen test was negative. An analysis of prothrombotic factors was negative. He could not receive any therapeutic intervention before his demise. The extent of COVID-19 infection after the onset of symptoms is a mystery and poses a fatal concern due to the increasing number of complications. The long-term complications after COVID-19 infection are still not understood. Clinicians need to be aware of any signs and symptoms that may arise months after COVID-19 infection and its possible causal relationship