0000000000631320
AUTHOR
August Ermert
URINARY DIVERSION AND ORTHOTOPIC BLADDER SUBSTITUTION IN CHILDREN AND YOUNG ADULTS WITH NEUROGENIC BLADDER: A SAFE OPTION FOR TREATMENT?
Combined pharmacotherapy, clean intermittent catheterization and infection prophylaxis is currently the gold standard of treatment for neurogenic bladder. However, as the adolescent gains independence from parental supervision, the intervals of clean intermittent catheterization compliance with medical treatment and regularity of followup examinations may decrease, and neurological and/or orthopedic status may change. This situation sometimes leads to failure of conservative treatment, resulting in incontinence and/or deterioration of the upper urinary tract. A multidisciplinary team was established at our institution 30 years ago to assess all aspects of care for patients with neurogenic b…
Assessment of brainstem function in Chiari II malformation utilizing brainstem auditory evoked potentials (BAEP), blink reflex and masseter reflex
Brainstem dysfunction was evaluated in 67 patients with myelomeningocele and Chiari II malformation using brainstem auditory evoked potentials (BAEP), blink reflex (BR) and masseter reflex (MR). Signs and symptoms related to Chiari II malformation were observed in 18 patients while 49 patients had normal brainstem findings. BAEP and BR showed a higher sensitivity of brainstem involvement than MR (BAEP=1.0, BR=0.83, MR=0.50). BR, and in particular, MR were of higher accuracy (BR=0.52, MR=0.72) than BAEP (0.39) in separating patients with brainstem signs and symptoms related to Chiari II malformation. We feel that this is due to anatomic and physiologic peculiarities of the brainstem structur…
Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).
A number of studies have demonstrated that the common polymorphism 677CT in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent in NTD probands compared with controls in some studies. Recently, another polymorphism, 1298AC, in the MTHFR gene was described and combined heterozygosity 677CT/1298AC was suggested to be an additional risk factor for NTD. The present study examines the genotype and haplotype distribution of the two polymorphisms in the German population and evaluates the impact on NTD individuals and their rela…