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Nondystrophic myotonias are characterized by muscle stiffness triggered by voluntary movement. They are caused by mutations in either the CLCN1 gene in myotonia congenita or in the SCN4A gene in paramyotonia congenita and sodium channel myotonias. Clinical and electrophysiological phenotypes of these disorders have been well described. No concomitant mutations in both genes have been reported yet. We report five patients from three families showing myotonia with both chloride and sodium channel mutations. Their clinical and electrophysiological phenotypes did not fit with the phenotype known to be associated with the mutation initially found in SCN4A gene, which led us to screen and find an additional mutation in CLCN1 gene. Our electrophysiological and clinical observations suggest that heterozygous CLCN1 mutations can modify the clinical and electrophysiological expression of SCN4A mutation., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Three infants presenting with severe cases of infantile botulism, occurring at 17, 30, and 180 days of life, respectively, are described in this report. All three infants presented with areflexive flaccid coma or apnoeas requiring prolonged ventilation. In serum, type B botulinum neurotoxin (BoNT/B) was detected in two cases and BoNT/A in the third case, confirming the diagnosis of infantile botulism. Despite constant nursing and monitoring, the recovery of motility was progressive, but finally complete. Dysautonomia, measured by recording heart rate variability (HRV), persisted beyond observable physical recovery. Dysautonomia was assessed using a time-domain analysis of the continuous electrocardiogram response (via non-invasive weekly 24h Holters), which included sympathetic (SDNN) and parasympathetic indices (RMS-SD, pNN50). In all three of our patients, we observed an initial hypotonic period and a major decrease in all HRV indices. Despite observable recovery shortly after extubation, HRV time domain indices remained altered for many weeks. Because of the close monitoring afforded by hospitalization, this change in autonomic function was not accompanied by syncope, complications arising from ventricular arrhythmia, or sudden death. Our observations have important clinical implications since they emphasize the importance of pursuing cardiopulmonary monitoring following apparent functional recovery from the BoNTs.

Introduction: Relapse Prevention (RP) is the central and most original focus in the treatment of addictions. Several studies support the effectiveness of group therapy in RP., Aims: To compare group psychotherapy for RP with standard follow-up of alcohol-abuse/ dependence patients., Method: Fourteen patients were assigned to the relapse prevention group and another ten patients received the standard outpatient monitoring. Numbers of relapses during the group therapy and one year later were recorded., Results: We found statistically significant differences (CHI(2)=7.95) p=0.019 between the two groups for rates of abstinence and relapse at the twelve-month follow-up., Conclusions: Group Therapy for Relapse Prevention is effective, easy to apply in the outpatient context and obtains better rates of abstinence than standard outpatient treatment at the one-year follow-up.

Botulism was suspected in a 17-day-old breastfed infant who developed over 2 days progressive muscular weakness and hypoventilation. The patient also presented with pupil dilation and light unresponsiveness. The electroencephalogram was normal. Full recovery was obtained after 85 days of artificial ventilation. Diagnosis was confirmed by the presence of the botulin toxin B in the patient serum. The source of the infection was not identified.