Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland.

BACKGROUND: Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. AIM: To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. METHODS: Patients with adult onset idiopathic isolated focal dystonia were recruited from multiple sources. Diagnosis was based on assessment by a neurologist with an expertise in movement disorders. When consent was obtained, a number of clinical features including family history were assessed. RESULTS: On the prevalence date there were 592 individuals in Ireland with adult onset idiopathic isolated focal dystonia, a point prevalence of 17.8 per 100 000 (95% confidence interval 16.4-19.2). Phenotype numbers were cervical dystonia 410 (69.2%), blepharospasm 102 (17.2%), focal hand dystonia 39 (6.6%), spasmodic dysphonia 18 (3.0%), musician's dystonia 17 (2.9%) and oromandibular dystonia six (1.0%). Sixty-two (16.5%) of 375 consenting index cases had a relative with clinically confirmed adult onset idiopathic isolated focal dystonia (18 multiplex and 24 duplex families). Marked variations in the proportions of patients with tremor, segmental spread, sensory tricks, pain and psychiatric symptoms by phenotype were documented. CONCLUSIONS: The prevalence of adult onset idiopathic isolated focal dystonia in Ireland is higher than that recorded in many similar service-based epidemiological studies but is still likely to be an underestimate. The low proportion of individuals with blepharospasm may reflect reduced environmental exposure to sunlight in Ireland. This study will serve as a resource for international comparative studies of environmental and genetic factors in the pathogenesis of the disorder.

[Orthostatic headache with tachycardia]. / Orthostatische Kopfschmerzen und Tachykardie.

We report the case of a 17 year old male patient who presented with a history of orthostatic headache (present in the upright position only) for several months. The diagnostic investigations (MRI of the head and of the spine, lumbar puncture) revealed no signs of an intracranial hypotension or a CSF leak. In standing position, a significant raise of the heart rate (>40 bpm) without fall of the blood pressure occurred together with a bilateral, pressure-like headache. A diagnosis of postural tachycardia syndrome was made. Treatment with increase of fluid and salt intake, elastic compression stockings and regular exercise was successful.

Coping strategies and the request for a consultation on complementary and alternative medicine -- a cross-sectional survey of patients in a psychosomatic and three medical departments of a german university hospital.

OBJECTIVE: To identify factors, predicting which patients of a large German university hospital request for a consultation on complementary and alternative medicine (CAM). PATIENTS AND METHODS: 350 patients of 3 medical and a psychosomatic department of the University Hospital Freiburg were consecutively surveyed with respect to their coping strategies, health locus of control, anxiety, depression, and the request for a consultation on CAM. Predicting factors were identified via logistic regression models. RESULTS: The request for a CAM consultation was primarily determined by an active coping strategy (odds ratio 1.66, 95% confidence interval 1.27-2.17, p = 0.0002) and a low Karnofsky index (odds ratio 0.79, 95% confidence interval 0.62-0.99, p = 0.0417). Anxiety, depression or internal health locus of control correlated with each other but could not be proved as independent factors for the request for a CAM consultation. CONCLUSION: Patients of a university hospital with an active disease coping have a need for information about CAM.

The effect of various forms of immobilization on plantar foot pressure.

In this study, 16 subjects wore different types of immobilization devices while peak pressures on the plantar aspect of the foot were measured using the Electrodynogram (E.D.G.) system. Objective and subjective data were generated and analyzed. Peak pressures decreased on the plantar aspect of the foot as the form of immobilization progressed up the leg.

Subchondral bone drilling: a treatment for cartilage defects.

Clearly, no one surgical procedure is ideal for the treatment of degenerative joint disease. Many factors are involved in planning for the proper approach, such as age and activity of the patient, etiology, and stage of the disease. Arthroplasty, implant arthroplasty, cheilectomy, enclavement, various osteotomies, and joint fusions have been advocated as procedures for choice of degenerative joint disease of the first metatarsophalangeal joint (24-26). Similar procedures have been used to treat arthroses of the lesser metatarsophalangeal joints as well. Some of these procedures are designed to address the etiology of the degenerative process. This is the case with the enclavement and metatarsal osteotomies such as the Watermann procedure (25, 26). Most of these procedures are primarily effective in the early stages of the disease (26). Other procedures attempt to alleviate symptomatology as with the Keller arthroplasty, implant arthroplasties, cheilectomy, and joint fusions (24, 26). With the exception of the cheilectomy, these generally are reserved for late stage arthroses. Subchondral drilling has been used to treat cartilage defects in conjunction with other procedures that address the etiology and symptomatology of the disease process. It has been shown that small drill holes may be effective in producing fibrocartilage to replace full- and partial-thickness cartilage defects (14, 18). Such drilling has been useful in the treatment of osteochondral lesions of the ankle and promises to be equally effective in treatment of osteochondral lesions of the metatarsophalangeal joints. As with any procedure, applications are limited. Subchondral drilling addresses only the cartilage defect and the pain attributed to that defect. It does nothing to address the etiology of a biomechanical problem. (ABSTRACT TRUNCATED AT 250 WORDS)

Biodegradable internal fixation. A literature review.

The authors review the properties and podiatric applications of biodegradable internal fixation devices. These devices include sutures, rods, and screws. Fixation of fractures and osteotomies with absorbable materials has been shown to be as effective as fixation with more traditional means, and it also provides several advantages.