Atypical parkinsonism can be a presenting feature of late‐onset Huntington's disease

Huntington''s disease is a progressive neurodegenerative disease that typically manifests with Choreic movements, psychological disorders, and cognitive decline. Some patients can initially present atypical movements other than the usual symptoms, such as parkinsonism, ataxia, and dystonia. In this report, we present an HD patient who presented with atypical parkinsonism.     

Adsorption Behaviour of Reactive Blue 194 on Raw Ramie Yarn in Palm Oil and Water Media

As an edible oil, palm oil is also safe and reliable in dyeing, and the residual palm oil after dyeing can be recycled and used continuously, which is green and environmentally friendly and has great research prospects. In this research, raw ramie yarn, used for traditional grass cloth, was dyed in a palm oil medium using Reactive Blue 194. Studying the adsorption and diffusion behaviour in the dyeing process is necessary. Additionally, the kinetics and isotherm model of dyeing raw ramie yarn with Reactive Blue 194 in palm oil is studied, and the adsorption behaviour between them is discussed. For a better understanding, the raw ramie yarn dyeing adsorption behaviour was also carried out in a water medium. It was found that the dyeing rates in palm oil are distinctly faster than in water. Kinetics data suggested that the pseudo-second-order model fitted for both dyeing mediums (palm oil and water) of the adsorption of the Reactive Blue 194 dye onto raw ramie yarn. Afterward, the adsorption isotherms’ results denote that the Langmuir model was suitable for palm oil dyeing medium while the Freundlich model was suited for water medium. Overall, this study has demonstrated that raw ramie yarn dyeing in a palm oil medium could be a sustainable colouration route for textile fibres with a greater dye exhaustion percentage.     

A case report of prostate adenocarcinoma with leptomeningeal carcinomatosis and intracerebral metastasis

Despite the fact that prostate cancer is the most prevalent cancer in men, metastases to the central nervous system including leptomeningeal involvement by prostate carcinoma is a rare event. The prognosis of metastatic prostate cancer is very poor due to lack of CNS penetrating therapeutic agents.     

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era

Gaucher disease (GD) is an autosomal recessive disorder resulting from glucocerebrosidase deficiency due to pathologic variants in GBA1. While clinically heterogeneous, GD encompasses three types, non-neuronopathic (GD1), acute neuronopathic (GD2), and chronic neuronopathic (GD3). Newborn screening (NBS), which has made remarkable inroads in detecting certain diseases before detrimental health consequences and fatality ensues, is now being piloted for GD in several states and countries. Early on, clinical features of GD2 can overlap with GD3; hence, predicting outcome is challenging. As NBS for GD becomes more available, the increased detection of GD in neonates is inevitable. As a result, health care providers and families will be faced with uncertainty with respect to clinical management. Since more severe GBA1 variants are generally associated with neuronopathic GD, there has been an increased dependence on genotypic information. We present an infant detected by NBS with genotype D409H(p.Asp448His)/RecNciI (p.Leu483Pro; p.Ala495Pro;p.Val499=). To assist in genetic counseling, we performed a retrospective review of other patients in our cohort carrying D409H and reviewed the literature. The study illustrates the challenges faced in counseling for infants with neuronopathic GD, even with known GBA1 variants, and the tough management decisions that can ensue from detection in newborns.     

Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron

The kidneys, by equilibrating the outputs to the inputs, are essential for maintaining the constant volume, pH, and electrolyte composition of the internal milieu. Inability to do so, either because of internal kidney dysfunction (primary alteration) or because of some external factors (secondary alteration), leads to pathologies of varying severity, leading to modification of these parameters and affecting the functions of other organs. Alterations of the functions of the collecting duct (CD), the most distal part of the nephron, have been extensively studied and have led to a better diagnosis, better management of the related diseases, and the development of therapeutic tools. Thus, dysfunctions of principal cell–specific transporters such as ENaC or AQP2 or its receptors (mineralocorticoid or vasopressin receptors) caused by mutations or by compounds present in the environment (lithium, antibiotics, etc.) have been demonstrated in a variety of syndromes (Liddle, pseudohypoaldosteronism type-1, diabetes insipidus, etc.) affecting salt, potassium, and water balance. In parallel, studies on specific transporters (H⁺-ATPase, anion exchanger 1) in intercalated cells have revealed the mechanisms of related tubulopathies like distal renal distal tubular acidosis or Sjögren syndrome. In this review, we will recapitulate the mechanisms of most of the primary and secondary alteration of the ion transport system of the CD to provide a better understanding of these diseases and highlight how a targeted perturbation may affect many different pathways due to the strong crosstalk and entanglements between the different actors (transporters, cell types).