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

Tijdschrift voor Kindergeneeskunde -     

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.     

Surgical strategies in very-low-birthweight neonates with necrotizing enterocolitis

Very-low-birthweight (VLBW) neonates are more prone to complications and death than term infants are. In a 15-year period, 19 neonates with VLBW were operated on for necrotizing enterocolitis (NEC). Indications for operation were pneumoperitoneum in 12 and deterioration of general condition in 7. Bowel resection and intestinal diversion was performed in 12, a lateral enterostomy at the site of perforation was created in 5, and 2 neonates with necrosis of the whole bowel underwent an exploratory laparotomy without any further surgical treatment. Surgical complications were found in one-third of the patients. The mortality rate was significantly higher when the ileum was affected. The survival rate was 68%. Prior to 1984 the survival rate was 37% (3/8); subsequently, it has improved to 91% (10/11) as a result of improved intensive therapy.