Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only mal...Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.展开更多
The objective of this paper is to provide an overview of the biomedical,the biopsychosocial, and the social humanistic theories of health and to propose a framework for integrating the latter into health care. In summ...The objective of this paper is to provide an overview of the biomedical,the biopsychosocial, and the social humanistic theories of health and to propose a framework for integrating the latter into health care. In summary, the definitions of health, illness and disease are essential to the practice of health care and play fundamental roles in how patients’ experiences of being ill are valued and assessed within health care systems. Principally, the biomedical perspective proceeds from pathoanatomical deficiencies defining disease and malfunction;the addition of psychosocial components forms a biopsychosocial perspective.In addition, the social humanistic perspective extends from a person’s will, their ability to act, and the possibility to fulfill wanted actions. Thus, health care that does not address the social humanistic perspective may lack the power to describe how these entities are related to the patient on a personal level;thus,the will of the patient is not always fully addressed. Importantly, by targeting the will of the patient and the patient’s ability to act, the proposed framework of integrating a social humanistic perspective into health care may further emphasize and strengthen the interrelatedness of medical perspectives. A framework for integrating a social humanistic perspective into health care is proposed and its potential impact on health care is discussed.展开更多
文摘Duchenne muscular dystrophy (DMD) is a hereditary, progressive muscular disorder inherited in an X-linked recessive pattern (Xp21). It typically manifests in childhood and follows a severe, rapid progression. Only males are affected, while females are usually carriers. Given the genetic nature of DMD, genetic counseling is an essential service for individuals affected by or at risk of carrying the disease. This service provides not only crucial medical information but also psychosocial support and ongoing management for both patients and their families. Since the discovery of the dystrophin gene in 1987, advancements in molecular genetics have made it possible to precisely identify the genes responsible for many neuromuscular diseases. These developments have revolutionized diagnosis, prognosis, and most importantly, genetic counseling, offering significant benefits for both patients and their families. To highlight the significance of these advancements, this case report focuses on a 10-year-old boy (Y) diagnosed with DMD. It emphasizes the familial nature of the disease, with Y’s two brothers, three cousins, and two maternal uncles also affected, underscoring the inherited pattern of DMD. This reinforces the critical need for early intervention, particularly in regions with high consanguinity, such as North Africa and the Middle East, where genetic counseling and prenatal diagnosis are even more essential. Additionally, the report explores the clinical presentation, diagnostic findings, and promising emerging treatments, including RNA-based therapies, which may play a key role in the future management of DMD. In light of the above, this study underscores the importance of prenatal diagnosis and genetic counseling, particularly in regions like Morocco, where consanguinity rates are notably high. By focusing on preconception care and early genetic intervention, families can be better informed, leading to more effective disease management and support.
文摘The objective of this paper is to provide an overview of the biomedical,the biopsychosocial, and the social humanistic theories of health and to propose a framework for integrating the latter into health care. In summary, the definitions of health, illness and disease are essential to the practice of health care and play fundamental roles in how patients’ experiences of being ill are valued and assessed within health care systems. Principally, the biomedical perspective proceeds from pathoanatomical deficiencies defining disease and malfunction;the addition of psychosocial components forms a biopsychosocial perspective.In addition, the social humanistic perspective extends from a person’s will, their ability to act, and the possibility to fulfill wanted actions. Thus, health care that does not address the social humanistic perspective may lack the power to describe how these entities are related to the patient on a personal level;thus,the will of the patient is not always fully addressed. Importantly, by targeting the will of the patient and the patient’s ability to act, the proposed framework of integrating a social humanistic perspective into health care may further emphasize and strengthen the interrelatedness of medical perspectives. A framework for integrating a social humanistic perspective into health care is proposed and its potential impact on health care is discussed.
