Functional studies on c.1347C>T,a polymorphism modulating phenotypic outcome in X-linked adrenoleukodystrophy

Tijdschrift voor Kindergeneeskunde -     

Persistent benign paroxysmal positional vertigo: our experience and proposal for an alternative treatment

Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo. Despite the great efficacy of canalith repositioning procedures (CRPs), BPPV may persist (PBPPV). The aim of the study was to evaluate whether a prolonged and self-assessed temporal bone vibration (TBV) could change the outcome of PBPPV after 12 months of repeated treatments, in order to avoid further invasive and/or drug therapies. This evaluation was also conducted with respect to the entire BPPV population treated with CRPs. Seventy-two patients affected by PBPPV were enrolled in the study: 51 and 21 of them suffering from posterior semicircular canal (PSC) and lateral semicircular canal (LSC), respectively. PBPPV patients underwent a twice-a-day self-assessed TBV, using a common low-intensity massaging cushion. Patients were re-tested 1 week later and they were considered free from disease as the results of the positioning tests continued to be negative after 1 month. 70.6 % of PSC PBPPV and 61.9 % of LSC PBPPV patients had positive and statistically significant (P < 0.01) outcomes not biased by “age” and “gender” variables. The recurrence rate of BPPV (RBPPV) was also studied in the BPPV and PBPPV groups after a 12/24-month follow-up and any statistically significant result was found in multiple regression analysis between nuisance variables and RBPPV patients previously treated by CRPs or TBV. The present study suggests that the self-assessed and prolonged TBV could be an alternative treatment in patients affected by PBPPV otherwise addressed to undergo more invasive procedures and pharmacological treatment that are not completely side effects free.     

Characteristics of the sequence effect in Parkinson's disease

The sequence effect (SE) in Parkinson's disease (PD) is progressive slowing of sequential movements. It is a feature of bradykinesia, but is separate from a general slowness without deterioration over time. It is commonly seen in PD, but its physiology is unclear. We measured general slowness and the SE separately with a computer‐based, modified Purdue pegboard in 11 patients with advanced PD. We conducted a placebo‐controlled, four‐way crossover study to learn whether levodopa and repetitive transcranial magnetic stimulation (rTMS) could improve general slowness or the SE. We also examined the correlation between the SE and clinical fatigue. Levodopa alone and rTMS alone improved general slowness, but rTMS showed no additive effect on levodopa. Levodopa alone, rTMS alone, and their combination did not alleviate the SE. There was no correlation between the SE and fatigue. This study suggests that dopaminergic dysfunction and abnormal motor cortex excitability are not the relevant mechanisms for the SE. Additionally, the SE is not a component of clinical fatigue. Further work is needed to establish the physiology and clinical relevance of the SE. © 2010 Movement Disorder Society.     

The role of the duodenal microflora as a determinant of persistent diarrhoea

It has been suggested that proliferation of enterobacteriaceae and/or anaerobes in the duodenum of some children with acute diarrhoea determines whether the episode becomes persistent. A review of published studies and the comparison of cultures of duodenal aspirates from Peruvian children with acute and persistent diarrhoea and diarrhoea-free children did not support this hypothesis. Although many children had enterobacteriaceae and/or anaerobes cultured there was no correlation with clinical and nutritional outcome. Age, nutritional status, the environment and the aetiology of the episode were determinants of the duodenal microflora independent of diarrhoea. Culture of the duodenal aspirates did not increase the yield of enteropathogens which were isolated more frequently from stools than from the duodenum. Despite the presence of a single strain or serotype of enterobacteriaceae suggesting that these bacteria were colonizing the duodenum, we were unable to demonstrate any adherence mechanisms in the majority of them. Two often bacteria with no other evidence of virulence caused diarrhoea in the RITARD rabbit model.