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Biomedical subjects

David S Younger

Publications and source records attributed to David S Younger.

6 recordsLinked to original sources
PubMed2005

Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling.

Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating progressive muscular atrophy and sensory neuropathy of the distal extremities. CMT is usually non-life threatening. Signs of the disease usually present in childhood or in young adulthood and the level of disability can be variable within and between families. Research addressing specific psychosocial and emotional issues faced by individuals with CMT is limited. Fourteen adults with a clinical and/or molecular diagnosis of CMT (ages 32--74 years) consented to an audio taped interview. The format of the interview was based around an informal questionnaire to prompt and guide the interviewee to describe their experiences of living with a disabling genetic disorder. The interviews focused on their experiences of first symptoms and diagnosis, their life experience with CMT, their limitations due to disability and the role of genetic counseling. This study identifies and explores life issues that individuals with CMT may face, specifically grief over the loss of independence, emotional pain and stress such as embarrassment and guilt of passing on a gene mutation, impact on quality of life, the impact of wearing orthopedic devices, and fear of progressive disability. Our findings suggest that that there are emotional and psychosocial issues specific to affected individuals at different life stages and genetic counselors need to be aware of these issues in order to provide age appropriate support and advice to individuals affected by CMT.

Adaptation, Psychological↗
PubMed2004

Headaches and vasculitis.

Vasculitis is a spectrum of clinicopathologic disorders defined by inflammation of systemic and central nervous system (CNS)arteries and veins of differing caliber with variable tissue injury. At the onset of systemic vasculitis, headache can occur in association with constitutional symptoms without imminent danger to the individual. In the advanced stages of systemic vasculitis and in selected other vasculitic disorders, headache should arouse suspicion of CNS involvement and therefore warrant prompt evaluation and treatment to forestall progression and prevent cerebral ischemia and infarction.

Headache↗
PubMed2004

Vasculitis of the nervous system.

PURPOSE OF REVIEW: Vasculitis refers to heterogeneous clinicopathologic disorders that share the histopathology of inflammation of blood vessels. When unrecognized and therefore untreated, vasculitis of the nervous system leads to pervasive injury and disability making this a disorder of paramount importance to all clinicians. RECENT FINDINGS: Remarkable progress has been made in the pathogenesis, diagnosis, and treatment of vasculitis of the central (CNS) and peripheral nervous system (PNS). The classification of vasculitis affecting the nervous system includes (1) Systemic vasculitis disorders (necrotizing arteritis of the polyarteritis type, hypersensitivity vasculitis, systemic granulomatous vasculitis, giant cell arteritis, diverse connective tissue disorders; viral, spirochete, fungal, and retroviral infection; (2) Paraneoplastic disorders; (3) Amphetamine abuse; (4) Granulomatous angiitis of the brain; (5) Isolated peripheral nerve vasculitis, each in the absence of systemic involvement; and (6) diabetes mellitus, associated wtih inflammatory PNS vasculopathy. SUMMARY: Vasculitis is diagnosed with assurance after intensive evaluation. Successful treatment follows ascertainment of the specific vasculitic disorder and the underlying cytochemical mechanism of pathogenesis. Clinicians must choose from among the available immunomodulating, immunosuppressive, and targeted immunotherapies, unfortunately without the benefit of prospective clinical trials, tempered by the recognition of all of the possible medication related side effects.

Azathioprine↗
PubMed2003

The myopathies.

Extraordinary progress has been made in the recognition, understanding, and treatment of myopathy in the past several decades, aided by the application of molecular genetics, electrophysiology, muscle biopsy, and innovative therapies. The symptoms of muscle disease may vary among individual patients with acquired muscle disorders, as well as family members with inherited disorders. A careful history and examination is necessary to establish the symptoms, temporal progression, and distinctive areas of involvement, associated conditions, and suspected inheritance pattern in those patients in whom genetic cause is suspected. Selective laboratory testing is performed in symptomatic patients, which may include creatinine kinase level, electrodiagnostic studies, and, as warranted, examination of blood and muscle tissue for specific histopathological and genetic defects.

Adult↗