Episodes of exercise-induced dark urine and myalgia in LGMD 2I.

BACKGROUND: Mutations in the fukutin-related protein gene FKRP (MIM *606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I). Exercise-induced myoglobinuria, frequently occurring in metabolic myopathies, has been described in Becker muscular dystrophy and in a few cases of LGMD. OBJECTIVES: To describe that episodes with myoglobinuria, often associated with exercise-induced myalgia, may be common and a presenting symptom in patients with LGMD2I. METHODS: Data on episodes of suspected myoglobinuria and myalgia were collected from the patient records on 14 patients with a diagnosis of LGMDI. RESULTS: Five LGMD2I patients reported recurrent episodes of dark urine and myalgia after exercise, and in three of them, this was the only symptom for several years. CONCLUSIONS: We conclude that episodes compatible with exercise-induced myoglobinuria may be frequent in LGMD2I.

Evaluation of quality of life parameters in patients who have syringomyelia.

Syringomyelia is a centromedullary syndrome that can be treated conservatively or with various neurosurgical procedures. We hypothesized that different clinical subgroups of patients exist, which would necessitate the need for individualised neurosurgical intervention and maintenance to achieve optimal quality of life (QoL). Using both the short-form 36-item (SF-36) questionnaire and the Syringomyelia Disability Index, clinical and QoL data was prospectively assessed in 142 patients with syringomyelia. Cluster analysis was then performed on the subscale results of the SF-36. The SF-36 scores of those with syringomyelia were significantly lower than those of the general German population, as well as when compared to those patients suffering from other chronic diseases. The SF-36 scores were independent of the syringomyelia patients' underlying syrinx pathology. Cluster analysis of the QoL patterns revealed four indicative patient groups. Syringomyelia is a chronic, progressive disease, and the syrinx itself appears to be the source of the symptoms, rather than the underlying pathology. The identified QoL subgroups in syringomyelia patients indicate the necessity of appropriate diagnosis and treatment of the pathology so that expansion of the syrinx cavity is reduced, maintaining QoL and functionality of these patients.

Prevalence of micro-emboli in symptomatic high grade carotid artery disease: a transcranial Doppler study.

BACKGROUND AND PURPOSE: Echolucent carotid plaques, as well as downstream micro-embolisation, may be associated with an increased risk of stroke. However, the relationship between carotid plaque ultrasound characteristics and micro-embolic signals (MES) detected in the middle cerebral artery (MCA) is still controversial. The purpose of this study was to investigate the prevalence of MES in patients with symptomatic high-grade internal carotid artery (ICA) stenosis and to identify predisposing factors, such as plaque echogenicity and intra stenotic blood flow velocity pattern. METHODS: 197 patients (mean age 69.5+/-8.6, 161 males) with confirmed symptomatic high-grade ICA stenosis and anti-platelet treatment underwent bilateral MES monitoring for 30 minutes within the anterior circulation, using Power M-mode transcranial Doppler techniques (TCD). Carotid artery plaques were characterized by Gray-Weale scaling. RESULTS: In 32.0% of the patients, we detected MES by TCD within the MCA on the symptomatic side, but the same finding was made in only 4.5% on the corresponding asymptomatic site (p<0.0001). The presence or absence of MES was associated with neither ultrasonic plaque characteristics nor the intrastenotic blood flow velocities at peak systole and end diastole. The median time since the last ischemic event symptoms was shorter in the patient group with MES [+] than in MES [-] (p=0.013). CONCLUSIONS: Despite optimum standard anti-platelet therapy, cerebral micro-embolisation occurs in 30% of patients with symptomatic carotid artery disease, which might therefore be a possible risk factor for recurrent neurological symptoms. However, the presence of MES is independent of intrastenotic blood flow disturbances and grey scale ultrasound plaque characteristics. The presence of MES as an indicator of unstable plaque and thereby a possible risk factor for stroke should be evaluated prospectively using various algorithms for plaque classifications.

Cryptococcosis in AIDS patients: observations concerning CNS involvement.

The clinical course and response to therapy of seven patients with cryptococcosis and AIDS were reviewed. One patient was still in the primary stage of cryptococcosis in AIDS, i.e. the stage that is characterized by the sole cultural detection of Cryptococcus neoformans in the respiratory tract. The other six patients were in the secondary stage, where C. neoformans can be detected from the cerebrospinal fluid (CSF), blood, urine, faeces and other body sites. The main presenting features (headache, fever, nausea) were due to central nervous system involvement, although meningism and mental changes were rarely present, and CSF changes were very subtle. Treatment with amphotericin B and flucytosine was very effective, there being no more growth of fungi in cultures in most cases. Adverse reactions to the drugs used occurred frequently and consisted mainly of anaemia, hepatosis and fever. Diagnosis in the primary stage of cryptococcosis may improve the prognosis.

[Side effects of trimethoprim-sulfamethoxazole in patients with AIDS]. / Nebenwirkungen durch Trimethoprim-Sulfamethoxazol bei Patienten mit AIDS.

Forty-nine episodes of Pneumocystis carinii pneumonia, treated with trimethoprim-sulfamethoxazole among 46 patients with AIDS were analysed retrospectively for any side effects. For only two were there insufficient data. There were 39 toxic reactions, 15 of them serious: leukopenia (n = 23), abnormal liver functions (n = 14), skin changes (n = 12), gastrointestinal complaints (n = 10) and thrombocytopenia (n = 9). In nine patients the treatment had to be discontinued, in six of them so early that a switch to pentamidine was necessary. Gastrointestinal symptoms occurred as early as the sixth day of treatment, while leukopenia and thrombocytopenia were first observed after 12-13 days. Despite the high rate of side effects trimethoprim-sulfamethoxazole remains the drugs of choice, other regimens not having been found to be any better.