Knowledge management and gamification in Pharma: an approach in pandemic times to develop product quality reviews

The Pharma sector is a much‑regulated market, and this means that this industry must test their products to comply with existing standards to assure the required level of quality and safety before being authorized to lunch those products to the market. Supply chains, data integrity, and tightening regulations are just examples of business process issues that affect quality strategies on a day‑to‑day basis. Besides, regulatory bodies are increasingly focused not only on compliance but also on building a culture of quality management. In this domain, the Quality Management System (QMS)is a well‑known system to support processes, procedures, and responsibilities for achieving quality policies and objectives.The QMS also drives consistent metrics, risk calculations, and other trend analysis in developing periodical Product Quality Reviews (PQRs), usually corresponding to one year periods, related to the product and with its active substance. The PQRs development process requires proper management of knowledge so that it can be replicated in different activities. This paper proposes the adoption of Gamification techniques in each phase of PQRs. In pandemic times, it is importante to improve the performance of each activity, gathering the engagement of the employees. Gamification is usually related to employee motivation, which, in turn, is conducive to the achievement of better results in the organization. In this context, it is necessary to understand how the commitment of stakeholders evolves and if the application of Gamification techniques allows enhancing this variable, taking the evolution of the performance as another variable that could be evaluated. This paper focuses on innovation in the area of knowledge management, based on the projection of a Gamified model related to managing activities of a PQR development project at the level of the active substance. The paper presents a case study where the proposed model was applied to analyze the performance achieves in a national pharmaceutical industry in Portugal.info:eu-repo/semantics/publishedVersio

Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses

The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease.info:eu-repo/semantics/publishedVersio

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of sulfatides in neural and visceral tissues, and causes demyelination of the central and peripheral nervous system. This leads to a broad range of neurological symptoms and eventually premature death. In asymptomatic patients with juvenile and adult MLD, treatment with allogeneic hematopoietic stem cell transplantation (HCT) provides a symptomatic and survival benefit. However, this treatment mainly impacts brain white matter, whereas the peripheral neuropathy shows no or only limited response. Data about the impact of peripheral neuropathy in MLD patients are currently lacking, although in our experience peripheral neuropathy causes significant morbidity due to neuropathic pain, foot deformities and neurogenic bladder disturbances. Besides, the reasons for residual and often progressive peripheral neuropathy after HCT are not fully understood. Preliminary studies suggest that peripheral neuropathy might respond better to gene therapy due to higher enzyme levels achieved than with HCT. However, histopathological and clinical findings also suggest a role of neuroinflammation in the pathology of peripheral neuropathy in MLD. In this literature review, we discuss clinical aspects, pathological findings, distribution of mutations, and treatment approaches in MLD with particular emphasis on peripheral neuropathy. We believe that future therapies need more emphasis on the management of peripheral neuropathy, and additional research is needed to optimize care strategies