RESUMEN
Primary immunodeficiency disorders (PIDs) are a heterogeneous group of genetic conditions profoundly impacting immune function. The investigation spans various PID categories, offering insights into their distinct pathogenic mechanisms and clinical manifestations. Within the adaptive immune system, B-cell, T-cell, and combined immunodeficiencies are dissected, emphasizing their critical roles in orchestrating effective immune responses. In the realm of the innate immune system, focus is directed toward phagocytes and complement deficiencies, underscoring the pivotal roles of these components in initial defense against infections. Furthermore, the review delves into disorders of immune dysregulation, encompassing hemophagocytic lymphohistiocytosis (HLH), autoimmune lymphoproliferative syndrome (ALPS), immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX), and autoimmunity polyendocrinopathy candidiasis-ectodermal dystrophy(APECED), elucidating the intricate interplay between immune tolerance and autoimmunity prevention. Diagnostic strategies for PIDs are explored, highlighting advancements in genetic and molecular techniques that enable precise identification of underlying genetic mutations and alterations in immune function. We have also outlined treatment modalities for PIDs, which often entail a multidisciplinary approach involving immunoglobulin replacement, antimicrobial prophylaxis, and, in select cases, hematopoietic stem cell transplantation. Emerging therapies, including gene therapy, hold promise for targeted interventions. In essence, this review encapsulates the complexity of PIDs, emphasizing the critical importance of early diagnosis and tailored therapeutic interventions. As research advances, a clearer understanding of these disorders emerges, fostering optimism for enhanced patient care and management in the future.
RESUMEN
Cystic fibrosis (CF) has long posed a complex challenge to medical science. Still, the tides are turning with remarkable progress in prognosis and demographics, thanks to cutting-edge medical management and treatment breakthroughs. It affects multiple systems, necessitating a comprehensive approach to its management. This article thoroughly reviews the latest advancements in CF treatment across three key areas: respiratory care, infection prevention, and pharmacological management. In respiratory care, emphasis is placed on airway clearance therapies and nebulized saline, while infection prevention strategies encompass hand hygiene, respiratory etiquette, and environmental cleaning and disinfection. Pharmacological management explores pancreatic enzyme replacement therapy (PERT), antimicrobial treatments, cystic fibrosis transmembrane regulator (CFTR) modulators, and promising gene therapies. Patient education and support are highlighted as crucial components of effective CF management, while mental health assessments are emphasized due to CF patients' susceptibility to anxiety and depression. This review highlights the tremendous progress made in the management of CF. Integrating early detection, infection prevention, pharmacological interventions, gene therapy, and patient support is revolutionizing the care and quality of life for individuals with CF.
RESUMEN
Children's heavy reliance on screen media has raised serious public health issues since it might harm their cognitive, linguistic, and social-emotional growth. This study examines the effects of screen time on many developmental domains and covers management and limitation techniques for kids' screen usage. Screen media has a wide range of cognitive consequences, with both beneficial and detrimental effects noted. Screens can improve education and learning; however, too much time spent in front of a screen and multitasking with other media has been related to worse executive functioning and academic performance. As screen time reduces the amount and quality of interactions between children and their caregivers, it can also have an impact on language development. Contextual elements like co-viewing and topic appropriateness are key in determining how language development is impacted. Additionally, excessive screen usage has detrimental effects on social and emotional growth, including a rise in the likelihood of obesity, sleep disorders, and mental health conditions including depression and anxiety. It can obstruct the ability to interpret emotions, fuel aggressive conduct, and harm one's psychological health in general. Setting boundaries, utilizing parental controls, and demonstrating good screen behavior are all techniques that parents may use to manage children's screen usage. We can reduce the possible negative impacts of excessive screen time and promote children's healthy development and well-being by increasing knowledge and encouraging alternative activities that stimulate development.