Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up

BACKGROUND: Antioxidant therapy is a new therapeutical approach for patients with Friedreich ataxia. AIMS: To assess the effectiveness of long-term idebenone treatment in Friedreich ataxia patients. METHODS: An open-labelled prospective study. Ten paediatric patients (age range 8-18 years) and 14 adults (age range 18-46 years) with genetic diagnosis of Friedreich ataxia were treated with idebenone (5-20mg/kg/day) for 3-5 years. Neurological evolution was evaluated using the International Cooperative Ataxia Rating Scale (ICARS), and cardiological outcomes using echocardiography. RESULTS: In paediatric patients, no significant differences were observed in ICARS scores and echocardiographic measurements when comparing baseline status and after 5 years of follow-up. Concerning adult cases, ICARS scores showed a significant increase in neurological dysfunctions during 3 years of therapy (Wilcoxon test, p=0.005), while echocardiographic measurements remained unchanged. CONCLUSIONS: Our results indicate that longer-term idebenone treatment prevented progression of cardiomyopathy in both paediatric and adult patients, whereas its stabilizing effect on neurological dysfunction was present only in the paediatric population, mainly before puberty. This suggests that the age at which idebenone treatment is initiated may be an important factor in the effectiveness of the therapy.     

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.     

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.     

Need for follow up in coeliac disease

The use of follow up studies was evaluated in 128 patients with coeliac disease during their first visit to a department for adults. The original diagnosis had been made in childhood in all patients. Fifty eight (45%) of the subjects were following a gluten free diet, 23 (18%) were following a gluten free diet but with occasional gluten consumption, and 47 (37%) had adopted an unrestricted, gluten containing diet for a mean of 11.2 years. There was no correlation in individual subjects between the presence of symptoms, biochemical and immunological abnormalities, severity of histological findings, and the amount of dietary gluten, despite the greater frequency of symptoms in the group following an unrestricted diet than in the other two groups. Short stature and epilepsy with cerebral calcifications only occurred in patients following an unrestricted diet. As only diagnosis based on two or three biopsy samples and regular follow up correlated positively with dietary compliance, it is suggested that a histologically confirmed diagnosis of coeliac disease and regular lifelong follow up are essential in the management of these patients.     

Anticholinergic bronchodilators in combination

Chronic obstructive pulmonary disease (COPD), which affects approximately 14 million Americans, is the fourth leading cause of death in the United States and is responsible for an estimated US$6.5 billion in direct and indirect costs per year [1,2]. Its usual course is a slow deterioration of lung function and progressive breathlessness with activities. The age-adjusted death rate for COPD rose 71% from 1967 to 1987, and the 10 year mortality rate is about 50%. Bronchodilators form one of the mainstays of therapy in COPD patients. The judicious use of these agents increases airflow and reduces dyspnea in patients with COPD. Patients often experience a reduction in symptoms and improvement in their quality of life. There are several classes of bronchodilators available for the treatment of COPD, each with specific clinical benefits: anticholinergics, short-acting beta 2 agonists, combination anticholinergic and short-acting beta 2 agonist, long-acting beta 2 agonists and methylxanthines. This chapter reviews the use of an anticholinergic (ipratropium bromide) concomitantly with other bronchodilators, focusing on patients with COPD.     

Purkinje cells in degenerative diseases of the cerebellum and its connections: a Golgi study

The cellular pathology of Purkinje cells in several degenerative diseases of the cerebellum and its connections was studied with the rapid Golgi method. Purkinje cells from a patient with Creutzfeldt-Jakob disease (case 1) showed decreased numbers of spiny branchlets. In a patient with a cystic infarct of the cerebellar white matter and chronic deafferentation of the cerebellar cortex (case 2) there was a striking increase in the density of spines on the primary dendrites. No abnormalities were observed in Purkinje cells from two patients with hereditary spinocerebellar degeneration (cases 3 and 4). Purkinje cells in two patients with olivopontocerebellar atrophy (OPCA) had severely reduced numbers of dendritic branches. Ballooned proximal axons were found in Purkinje cells with severely damaged dendrites (cases 5 and 6). In contrast to experimental olivary degeneration in laboratory animals, Purkinje cells from patients with OPCA did not have increased numbers of stubby spines in stout proximal dendrites but few spines with long pedicles were observed in the proximal segment of the primary dendrites and in the cellular body.     

Plasma exchange: a controlled study of the effect in patients with Raynaud's phenomenon and scleroderma

Six female patients with stage I and II vascular scleroderma and Raynaud's phenomenon were treated with plasma exchange and placebo plasma exchange. Placebo exchange consisted of the return of the patient's own separated plasma. No consistent long-term objective improvement was demonstrated in patients treated with either plasma exchange or placebo plasma exchange. Immediate increases in pulse volume, digital blood pressure, and skin temperature occurred in some patients with both procedures. Mechanisms of change remain unexplained, and further study is warranted.