Frequency of Hemorrhagic Side Effects of Botulinum Neurotoxin Treatment in Patients with Blepharospasm and Hemifacial Spasm on Antithrombotic Medication

The aim of this study was to investigate the frequency of hemorrhagic side effects of botulinum neurotoxin A injections (BoNT/A) for the treatment of benign essential blepharospasm (BEB) and hemifacial spasm (HFS) in patients taking antithrombotic drugs (ATD). A total of 140 patients were included (female: 65%; BEB: 75%; mean age: 70 ± 12 years). According to their current antithrombotic medication, participants were either assigned to the ATD group (41%), or to the control group (59%). The ATD group was further divided into subgroups depending on the medication administered: acetylsalicylic acid, ADP receptor antagonists, direct oral anticoagulants, vitamin-K antagonists, or dual antiplatelet therapy. The frequency of hemorrhagic side effects was recorded by retrospective analysis of past treatments as documented in the patient’s file set in relation to the number of past treatments (hematoma frequency of past treatments, HF_retro) as well as by a prospective survey capturing the side effects of one single treatment (hematoma frequency of actual treatment, HF_actual). There was no significant difference in hematoma frequency between the ATD group and the control group, neither for past (HF_retro: ATD: 2%; 45/2554; control: 4%; 109/2744) nor for the current BoNT/A treatments (HF_actual: ATD: 30%; 16/53; control: 31%; 22/72). Even between ATD subgroups, hematoma frequency did not differ significantly. Overall, hemorrhagic side effects of the BoNT/A treatment for BEB and HFS were mild and non-disabling.     

Quality of life in patients with cystic fibrosis and their parents: what is important besides disease severity?

BACKGROUND: Cystic fibrosis is the most common inherited disease with a fatal outcome in industrialised nations. With the improvement in life expectancy, supporting patients and their families in adapting to life with this chronic progressive disease has become increasingly important. The aim of the present study was to investigate the relationship between health related quality of life (HRQOL) in this population, severity of disease, and cognitive/behavioural factors such as subjective health perception and ways of coping. METHODS: A sample of 89 adolescent and adult patients with cystic fibrosis and 125 parents of younger patients with cystic fibrosis completed questionnaires on health related quality of life and on ways of coping with the illness. Parents were asked to fill out the questionnaires regarding their own quality of life and coping. Multiple regression analyses were performed to examine the relationship between different predictor variables and quality of life. RESULTS: After accounting for the impact of disease severity and hours of treatment per day, the subjective health perception of patients significantly explained variance in their quality of life. Ways of coping were also significantly correlated with HRQOL. In parents the most important factor in explaining variance of HRQOL seems to be the coping style, whereas disease severity of the child and subjective health perception did not show any influence. CONCLUSIONS: The findings support the important role of cognitive and behavioural factors in specific subjective health perception and ways of coping in the adaptation to this severe chronic disease, both in patients themselves and in parents. The results call for a careful assessment of issues of coping and professional support for families of patients with cystic fibrosis in the early course of disease.     

Carotid chemoafferent plasticity in adult rats following developmental hyperoxia

Developmental hyperoxia impairs carotid chemoreceptor development and induces long-lasting reduction in carotid sinus nerve (CSN) responses to hypoxia in adult rats. Studies were carried out to determine if CSN responses to acute hypoxia would exhibit hypoxia-induced plasticity in adult 3-5-months-old rats previously treated with postnatal hyperoxia (60% O2, PNH) of 1, 2, or 4 weeks duration. CSN responses to acute hypoxia were assessed in adult rats exposed to 1 week of sustained hypoxia (12% O2, SH). In normal adult rats and adult rats treated with 1 week of PNH, CSN responses to acute hypoxia were significantly increased in urethane-anesthetized rats when studied 3-5 h after SH. Apparent increases in CSN responses to hypoxia were not significant in rats treated with 2 weeks of PNH and were clearly absent after 4 weeks of PNH, but exponential analysis suggests a PNH duration-dependent plasticity of the CSN response to acute hypoxia after SH. In a second study rats exposed to 2 weeks of PNH were treated with SH for 1 week as adults and acute hypoxic responses were tested 4-5 months later. CSN responses in these rats were unaffected by SH suggesting a lack of persistent SH-induced functional plasticity. We conclude that rats treated with 1 week of PNH retain the capacity for hypoxia-induced plasticity of carotid chemoafferent function and some potential for plasticity may be present after 2 weeks of PNH, whereas 4 weeks of PNH impairs the capability of rats to exhibit plasticity following 1 week of SH.     

Angeborene und endogene endokrine Myopathien

Disorders in endocrinological pathways rarely lead to manifest acquired or endogenous myopathy so that an interdisciplinary evaluation between neurology and endocrinology is essential for these disorders. Asymptomatic or forme fruste variants may be more common and even underdiagnosed in these circumstances. Dysbalance disorders of protein synthesis, electrolytes and carbohydrates can lead to several rare forms of myopathy due to the dependence on hormonal metabolism. In general, the main neuromuscular symptom is proximal weakness, sometimes in addition to myalgia and muscle atrophy. Endocrine myopathies are usually reversible by treatment of the underlying disease. The severity of the endocrinopathy is of fundamental importance for the long-term clinical outcome.     

Congenital and endogenous endocrine myopathy

Disorders in endocrinological pathways rarely lead to manifest acquired or endogenous myopathy so that an interdisciplinary evaluation between neurology and endocrinology is essential for these disorders. Asymptomatic or forme fruste variants may be more common and even underdiagnosed in these circumstances. Dysbalance disorders of protein synthesis, electrolytes and carbohydrates can lead to several rare forms of myopathy due to the dependence on hormonal metabolism. In general, the main neuromuscular symptom is proximal weakness, sometimes in addition to myalgia and muscle atrophy. Endocrine myopathies are usually reversible by treatment of the underlying disease. The severity of the endocrinopathy is of fundamental importance for the long-term clinical outcome.     

Impact of state and trait anxiety on the panic response to CCK-4

In order to elucidate the impact of psychological factors on panic severity the correlation between baseline anxiety and panic response to cholecystokinin-tetrapeptide (CCK-4), an established model of human anxiety, was investigated in 33 healthy volunteers. Baseline anxiety was assessed with the State-Trait-Anxiety-Inventory (STAI). Trait and state anxiety did not differ between panickers and nonpanickers nor were they correlated with panic severity. In conclusion, psychological factors are not major determinants for the subjective panic response to CCK-4 thus emphasising the importance of neurobiological factors.     

Important role of carotid chemoreceptor afferents in control of breathing of adult and neonatal mammals

This review provides a summary and prospective on the importance of carotid/peripheral chemoreceptors to the control of breathing during physiologic conditions. For several days after carotid body denervation (CBD), adult mammals hypoventilate (+10 mmHg increase in Pa(CO(2))) at rest and during exercise and CO(2) sensitivity is attenuated by about 60%. In addition, if the rostral ventrolateral medulla is cooled during NREM sleep after CBD, a sustained apnea is observed. Eventually, days or weeks after CBD, a peripheral ventilatory chemoreflex redevelops and there is a normalization of breathing (rest and exercise) and CO(2) sensitivity. The site (s) of the regained chemosensitivity has not been established. This plasticity/redundancy after CBD appears greater in neonates than in adult mammals. These data suggest the carotid and other peripheral chemoreceptors provide an important excitatory input to medullary respiratory neurons that is essential for breathing when wakeful stimuli and central chemoreceptors are absent.     

Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA.

The Na+/Ca2+ exchanger plays important roles in Ca2+ handling in many excitable cells. In particular, the Na+/Ca2+ exchanger is expressed at high levels in the cardiac sarcolemma and is the dominant mechanism of Ca2+ extrusion from the cells. In addition, the exchanger has been suggested to play key roles in digitalis action and in postischemic reperfusion injury of cardiac myocytes. We report here the isolation and characterization of the cDNA encoding the human cardiac Na+/Ca2+ exchanger. Twelve overlapping clones corresponding to 5.6 kilobases of the exchanger cDNA sequence were isolated from 5 x 10(5) phage plaques screened. The sequence predicted a 973-amino acid polypeptide with a putative leader peptide, 11 potential membrane-spanning regions, and one large putative cytoplasmic loop between the fifth and sixth transmembrane helices. When RNA was synthesized in vitro from the cloned cDNA and injected into Xenopus oocytes, it induced expression of Na+/Ca2+ exchange activity at high levels, confirming that this clone encodes the functional Na+/Ca2+ exchanger. Southern blot analysis indicated that the cardiac exchanger gene exists as a single copy in the human genome, although existence of other related genes cannot be ruled out. Northern blot and S1 mapping analyses revealed that the cardiac type exchanger mRNA is expressed most abundantly in the heart and next in the brain. The cardiac-type exchanger mRNA was also expressed in the retina and in skeletal and smooth muscles at very low levels. The levels of mRNA encoding the exchanger were significantly lower in fetal hearts than in adult hearts but were unchanged in the myocardium from patients with end-stage heart failure.     

The impact of interrupting enzyme replacement therapy in late-onset Pompe disease

Journal of Neurology - Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory...