Objectives. Sickle cell anaemia (SCA) is one of the commonest genetic disorders in the world. It is characterized by anaemia, periodic attacks of thrombotic pain, and chronic systemic organ damage. Recent studies have suggested that individuals with SCA especially from developing countries are more likely to be iron deficient rather than have iron overload. The study aims to determine the iron ...

In the case of spinocerebellar ataxia (SCA) we are dealing with a disease entity that today is based on recent and ongoing genetic findings. We now distinguish more than 20 SCA subtypes with distinct gene loci. These genetic SCA subtypes allow classification based on genetic findings in approximately 60% to 80% of ADCA families. In single families with other neurological disorders as a leading ...

BACKGROUND Children and young adults with undiagnosed cardiovascular disorders at risk for sudden death may have warning symptoms or significant family history that is detectable through screening. The objective of this study was to determine the prevalence of warning symptoms and family history in a cohort of children and young adults who suffered sudden cardiac arrest (SCA). METHODS A retro...

Sickle cell anemia (SCA) is associated with a hypercoagulable state. Increased platelet activation is reported in SCA and SCA platelets may present augmented adhesion to the vascular endothelium, potentially contributing to the vaso-occlusive process. We sought to observe the effects of platelets (PLTs) from healthy control (CON) individuals and SCA individuals on endothelial activation, in vit...

BACKGROUND & OBJECTIVES The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association betwe...

OBJECTIVES To compare the reciprocal control of agonist and antagonist muscles in individuals with and without spinocerebellar ataxia (SCA) and to evaluate the effect of a 4-week leg cycling regimen on functional coordination and reciprocal control of agonist and antagonist muscles in patients with SCA. DESIGN Randomized controlled trial with repeated measures. SETTING Research laboratory i...

Suppressor lymphocytes are known to play an important role in the control of immune responses. The property of the lectin concanavalin-A (Con-A) to induce suppressor cell activity (SCA) has been used as the basis of a method to assess SCA in the peripheral blood of patients. In this study we confirm previous data on the standard double culture assay for Con-A induced SCA and we analyse the poss...

Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention. Currently available DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs. Certain characteristic clinical features and ethnic predilection of some of the SCA subtypes may help prioritize specific ...

Background Trigeminal Neuralgia is characterized by episodic severe facial pain possibly the result of “pulsatile” compression of the nerve Root Entry Zone (REZ) of the Trigeminal Nerve (TN) by the adjacent superior cerebellar artery (SCA). The exact role of pulsatility of SCA remains unknown and currently no methods are available to measure the pulsatility of the SCA. Herein we investigate the...

Systemic cystic angiomatosis is a rare benign disorder due to the maldeveloped vascular and lymphatic system with less than 50 cases reported in literature so far. We report here a case of systemic cystic angiomatosis (SCA) with multisystem involvement affecting the neck, thyroid, thoracic cavity, and skeletal system. The patient initially presented in her 4th decade of life with isolated lymph...