Chronic Progressive Autonomic Dysfunction in a Dog

A 3.5‐year‐old intact male American Pit Bull was presented because of urinary incontinence and dysuria. Constipation, followed by diarrhoea, ocular disturbances and finally regurgitation developed over the next 4 years. Autonomic dysfunction was evidenced by clinical presentation, as well as positive ophthalmic pilocarpine test and subnormal Schirmer tear test. Diagnosis, however, was established through histopathological and immunohistochemical examination. Lesions attributable to inflammatory degenerative neuropathy of the autonomic ganglia, which represents one of the various types of human autonomic failure, were detected.     

Plasminogen activator inhibitor-1 4G/5G polymorphism and risk of ischemic stroke: a meta-analysis.

This study investigated the hypothesis that the insertion/deletion (4G/5G) polymorphism of the plasminogen activator inhibitor type-1 gene affects the risk for ischemic stroke, since results concerning this association have been controversial. We therefore performed a meta-analysis of published data regarding this issue. A comprehensive electronic search was carried out until January 2006. The analysis was performed using random-effects models and meta-regression. Eighteen eligible studies were retrieved (15 case-control studies and three cohort studies). The case-control studies included 3104 cases and 4870 control individuals concerning the contrast of 4G/4G versus remaining genotypes. The 4G pooled allele frequencies in cases and controls were 54.21 and 54.75%, respectively. Overall, the per-allele odds ratio of the 4G allele was 0.98 (95% confidence interval, 0.858-1.121). Regarding genotypes, we derived nonsignificant odds ratios in all contrasts. The subanalysis including the three studies with a prospective design in the 4G/4G versus 5G/5G contrast derived a significant result (relative risk, 0.523; 95% confidence interval, 0.353-0.775), but the estimated effect size was insignificant when cohort and case-control studies were analyzed together (relative risk, 0.848; 95% confidence interval, 0.662-1.087). We failed to demonstrate a significant association between the 4G/5G polymorphism and ischemic stroke under basal conditions. Determination of plasminogen activator inhibitor type-1 function seems of much higher clinical value than determination of the 4G/5G polymorphism. The effect of this genotype on risk of ischemic stroke in acute stressful diseases and the role of cohort studies in genetic epidemiology, however, warrant further investigation.     

PLP1 gene analysis in 88 patients with leukodystrophy

Pelizaeus–Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Eighty‐eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation‐dependent Probe Amplification technique and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array‐CGH. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array‐CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.     

Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency

The objective of this study was to characterize levodopa (l‐ dopa)–induced dyskinesias in patients with tyrosine hydroxylase deficiency. Clinical observation was carried out on 6 patients who were diagnosed with tyrosine hydroxylase deficiency and were treated with escalating doses of l‐ dopa. All 6 patients showed l ‐dopa‐induced dyskinesias of variable intensity early in the course of treatment and regardless of the age of initiation. l ‐Dopa–induced dyskinesias were precipitated by increases in the dose of l ‐dopa and also by febrile illnesses and stress. They caused dysfunction and distress in 2 patients. The dyskinesias were improved by decreasing the l ‐dopa dose or by slowing its titration upward. Increasing the dose frequency was helpful in 2 patients, and introducing amantadine was helpful in another 2 patients. l ‐Dopa–induced dyskinesias are a common phenomenon in tyrosine hydroxylase deficiency. The current observations show that l‐ dopa–induced dyskinesias are frequent in a dopamine‐deficient state in the absence of nigrostriatal degeneration. Although l ‐dopa–induced dyskinesias in tyrosine hydroxylase deficiency are phenomenologically similar to those that occur in Parkinson's disease, they are different in a number of other respects, suggesting intrinsic differences in the pathophysiologic basis of l‐ dopa–induced dyskinesias in the 2 conditions. © 2013 Movement Disorder Society     

Design of removable partial dentures: a survey of dental laboratories in Greece

The aim of this study was to compare data on design and fabrication methods of removable partial dentures (RPDs) in two major cities in Greece. A questionnaire was sent to 150 randomly selected dental technicians. The participation rate was 79.3%. The anterior palatal strap, the lingual bar, and the Roach-type clasp arm designs were preferred. Half of the RPDs fabricated were retained using precision attachments. Differences between the two cities were observed in types of major maxillary connectors used, types of attachments and impression materials used, as well as the design of distal-extension RPDs. Postdoctoral education was found to have an impact on RPD fabrication. Despite the differences observed, design and fabrication of RPDs followed commonly used principles.     

Assessment of a new immunocytochemical technique in HbF-cell counting by a novel objective evaluation method

A recently developed immunocytochemical technique in HbF-cell counting was assessed by an objective evaluation method. The basic principle of this method is the preparation of aliquots with predetermined HbF-cell (target) values. These aliquots serve as control samples to standardize the HbF-cell measurements by the new immunocytochemical technique, which uses the StreptABComplex/AP staining procedure (SAP) and visualization under white light. Immunofluorescence optical counts (IF) were performed in parallel with the new technique. A trend of inaccuracy was observed in low target values for both methods. As the level of target values increased, deviations became insignificant (relative accuracy < 8%) with SAP having slightly better results. Linear regression data of the estimated %HbF-cell rates by the two methods versus the target values were very satisfactory for both methods with SAP being slightly better. SAP seems to provide an accurate and reliable alternative for HbF-cell estimation comparable with the classical IF optical count.     

The impact of lower leg compartment syndrome on health related quality of life

Although the aetiology, pathophysiology and treatment of acute compartment syndrome have been well described in the literature, there is limited information on the long-term impact of compartment syndrome on quality of life. We reviewed the medical records and radiographs of all the patients treated with surgical decompression of compartment syndrome. Between 1993 and 1998, 42 cases were identified. There were 30 cases of tibial compartment syndrome and 12 cases involving other limbs. These 30 patients were recalled for a follow-up assessment during which they were asked to complete an EQ-5D (EuroQol), a standardised measure of health related quality of life based on five dimensions (self-care, pain/discomfort, mobility, usual activities and anxiety/depression). Patients were compared with EQ-5D age/sex norms derived from a randomly selected group of patients that had sustained isolated closed tibial shaft fractures. The minimum follow-up time was 12 months. Patients who stated that the appearance of the surgical site was a problem, reported significantly poorer health related quality of life than did patients who had no problem with the appearance. Patients with skin graft reported more problems with pain and discomfort than patients without skin graft. Patients with faster closure times of the wound showed significantly better self-rated health status than patients in whom the wound closure time was longer. Although the patients in this study reported significantly more problems on the dimensions of EQ-5D than were reported in the control group, their overall self-rated health was not statistically different. This study has demonstrated that compartment syndrome may be associated with long-term impact on health related quality of life.     

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.