Breast cancer is a major challenge in the field of oncology, with around 2.3 million cases and around 670,000 deaths globally based on the GLOBOCAN 2022 data. Despite having advanced technologies, breast cancer remains the major type of cancer among women.
View Article and Find Full Text PDFBi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.
View Article and Find Full Text PDFInherited cerebellar ataxias (CA) are heterogeneous progressive neurological conditions associated with significant functional limitations. This study aimed to assess the implications of inherited CA on patients' self-reported quality of life (QoL) and impairments in work and activities. 129 individuals with ataxia responded to a survey focused on QoL.
View Article and Find Full Text PDFBackground: Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach.
Objective: This scoping review attempts to summarize all available clinical literature on ADCY5-RMD.
Aim: Hereditary sensory neuropathy (HSN) 1E is a neurodegenerative disorder caused by pathogenic variants in DNA methyltransferase 1 (DNMT1). It is characterised by sensorineural deafness, sensory neuropathy and cognitive decline. Variants in DNMT1 are also associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy.
View Article and Find Full Text PDFThe herculean imprecation of nitrogen-based pollutant like ammoniacal nitrogen (AN) and chemical oxygen demand (COD) on aquatic milieu is now a concern for the dye, pharma and fertiliser industries. Wastewater from these is characterised with high concentration of AN, COD and total dissolved solids (TDS), treatment of which is of utmost importance for a cleaner environment. In the current research work, an attempt was made to apply integrated electro-coagulation (EC) - sonication process for the removal of COD and AN from highly acidic dye intermediate wastewater containing high to very high concentration of COD and AN.
View Article and Find Full Text PDFParkinson's disease (PD) is a disorder characterized by a triad of motor symptoms (akinesia, rigidity, resting tremor) related to loss of dopaminergic neurons mainly in the . Diagnosis is often made after a substantial loss of neurons has already occurred, and while dopamine replacement therapies improve symptoms, they do not modify the course of the disease. Although some biological mechanisms involved in the disease have been identified, such as oxidative stress and accumulation of misfolded proteins, they do not explain entirely PD pathophysiology, and a need for a better understanding remains.
View Article and Find Full Text PDFThe Chelate-modified EF process for the removal of COD at near neutral pHTreatment of the mixed industrial wastewater with very low BOD/COD ratioInfluence of Fenton catalyst and chelating agent dosage on COD removal.Comparable COD removal of 67% with Chelate-modified EF at near neutral pH and 66% with EF at acidic pH.Mineralization current efficiency and instantaneous current efficiency for COD removal.
View Article and Find Full Text PDFThe intricacy in the treatment of effluents from the textile sector attracts the researchers since 20th century. Dye intermediate manufacturing industries are responsible for producing the toxic pollutants such as nitro-aromatics, benzene, toluene, phenol, heavy metals etc. with intense colour.
View Article and Find Full Text PDFVasc Endovascular Surg
July 2020
Aortic isthmic atresia is a severe form of aortic coarctation where there is loss of luminal communication at the aortic isthmus. The primary approach for correcting aortic isthmic atresia has been surgical repair of the coarctation. A small number of case series have shown that percutaneous correction of aortic isthmic atresia is possible.
View Article and Find Full Text PDFAim: Histological chorioamnionitis (HCA) is associated with preterm birth and adverse neonatal outcomes. We evaluated the rise in C-reactive protein (CRP) in preterm infants as a predictor of HCA severity and outcomes.
Methods: Consecutive preterm infants, born January 2009 to January 2014 in the National Maternity Hospital, Dublin, under 32 weeks' gestation or <1.
Harlequin syndrome is a disorder of the autonomic nervous system. It clinically presents as a distinct line of hemifacial sympathetic denervation. We describe a case of Harlequin syndrome with co-existing central first-order Horner syndrome in the setting of a large thalamic hemorrhage with intraventricular extension.
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