THE EFFECT OF COMBINED ACTION OF ANTIBACTERIAL DRUGS WITH LOW-INTENSIVE LASER RADIATION ON CLINICAL STRAINS S. AUREUS AND S. SALIVARIUS IN THE ORAL CAVITY.

The oral mucosa is constantly contaminated by a large number of microorganisms that may cause diseases such as periodontitis and caries. The present paper aims to study the effectiveness of the antimicrobial effect of combined use of antibacterial drugs (AD) and low-intensity laser radiation (LLR) on S. aureus S. salivarius isolated from the oral cavity. The study included 20 individuals with dental caries, 20 individuals with periodontitis and 10 without any signs of dental disease. The material for the microbacterial study was collected from surfaces of the teeth, oral cavity with dental caries and periodontal pockets. The intensity of bacterial isolation was estimated by two factors: the frequency of isolation and percentage of other aerobic microorganisms. The obtained data demonstrated that the use of several antibacterial drugs had a different impact on the strains of S. salivarius and S. aureus, depending on the source of their collection. The collected isolates were used to determine the effect of a 5 minute laser radiation combined with antibacterial drugs. The simultaneous use of antibacterial therapy and laser radiation showed an increase in the therapeutic effect of all investigated antibiotics followed by the inhibition of the growth presentations in S. aureus and S. salivarius. The application of photodynamic therapy, e.g. LLR, combined with antibacterial drugs allowed to achieve a complete inhibition of the microbial growth.

Inner ear dysfunction in myotonic dystrophy type 1.

OBJECTIVES: Myotonic dystrophy type 1 is associated with various oculomotor, vestibular, and auditory abnormalities. However, auditory system investigation has been mainly performed with the subjective method of pure-tone audiometry. In this study, a detailed vestibular and audiological evaluation was undertaken, including the objective and more sensitive method of transiently evoked otoacoustic emissions (TEOAEs). MATERIALS AND METHODS: Twenty-four patients with genetically diagnosed myotonic dystrophy type 1 and 21 controls were studied. Audiological and vestibular investigations included pure-tone audiometry, tympanometry, auditory brainstem responses (ABRs), TEOAEs, and electronystagmography. RESULTS: Hearing impairment was evident in 15 (62.5%) patients and in nine of them (37.5%) ABR abnormalities were found. However, subclinical cochlear damage was found in all patients, as evidenced by absent emissions or lower otoacoustic emission amplitude. Vestibular hypesthesia was found in nine patients (37.5%), accompanied by spontaneous nystagmus in four of them (15.6%). CONCLUSIONS: Auditory and vestibular abnormalities are quite common in patients with myotonic dystrophy type 1. However, it appears that subclinical cochlear damage is an ubiquitous finding of the disease.

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion.

Huntington's disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes formutations causing HDL2, SCA17, SCA1, SCA2, SCA3,SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions. The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients.

Huntington's disease in Greece: the experience of 14 years.

A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥ 36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false-positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process.

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.

Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion in frataxin gene. In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous). No detectable point mutation or deletion was found in the aprataxin gene of all the patients. Our results do not confirm the previous studies. This difference may be attributed to the different populations studied and possible different genetic background. It is still questionable whether the screening for aprataxin mutation in Greek patients' Friedreich ataxia phenotype is of clinical importance; larger, multicenter studies are necessary to clarify this issue.

An APOA1 promoter polymorphism is associated with cognitive performance in patients with multiple sclerosis.

BACKGROUND: Elevated ApoA1 levels have been associated with decreased dementia risk. The A-allele of the APOA1 -75G/A promoter polymorphism has been associated with elevated ApoA1 levels. OBJECTIVE: We sought to investigate the effect of the APOA1 -75G/A promoter polymorphism on cognitive performance in patients with multiple sclerosis (MS). METHODS: A total of 138 patients with MS and 43 controls were studied and underwent neuropsychological assessment with Rao's Brief Repeatable Battery and the Stroop test. All patients were genotyped for APOA1. RESULTS: APOA1 A-allele carriers displayed superior overall cognitive performance compared with non-carriers (P 0.008) and had a three-fold decrease in the relative risk of overall cognitive impairment (OR 0.29, 95% CI 0.11-0.74). Regarding performance on individual cognitive domains, although APOA1 A-allele carriers performed better than non-carriers on all tests, this was significant only for semantic verbal fluency and the Stroop interference task (P 0.036 and 0.018, respectively). CONCLUSIONS: We found an association of the APOA1 -75G/A promoter polymorphism with cognitive performance in MS. This effect was most prominent on semantic verbal fluency and the Stroop interference task.

Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family.

UNLABELLED: The aim of the present study was to investigate the subclinical involvement of the central nervous system (CNS) in an X-linked Charcot-Marie-Toth (CMTX) family. MATERIAL AND METHODS: Seven subjects, all members of one family with a C.462T > G connexin 32 (Cx32) mutation were investigated by Blink reflex, Somatosensory evoked potentials (SEP) and Transcranial magnetic stimulation (TMS). There were five clinically symptomatic for CMT neuropathy (four male and one female) and two asymptomatic (female) subjects. RESULTS: Subclinical CNS involvement was observed in all, symptomatic and asymptomatic subjects. CONCLUSION: This is the largest CMTX neuropathy family investigated for CNS involvement. Electrophysiological involvement of the CNS in every examined member of this family was observed, raising the question of a more systematic involvement of the CNS in CMTX disease.

Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.

OBJECTIVE: A family with a clinically heterogeneous progressive ataxia in two generations is presented. METHODS: Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene. RESULTS: The affected members (father, son and daughter) were homozygous for the mutation at the Friedreich's gene, while the unaffected (the mother and her sister) were heterozygous. CONCLUSION: This pseudodominant form of Friedreich's ataxia should be considered in families with an apparently autosomal dominant progressive ataxia in conjunction with sensory neuropathy and pyramidal signs.

Single-dose and multi-dose clindamycin therapy fails to demonstrate efficacy in preventing infectious and inflammatory complications in third molar surgery.

The goal of this study was to evaluate the efficacy of single- and multi-dose (5-day) clindamycin therapy for the prevention of inflammatory complications in patients undergoing lower third molar surgical extraction with bone removal. Patients who qualified for the prospective, randomized, double-masked, placebo-controlled trial were randomly divided into three groups: (1) single dose of oral clindamycin administered preoperatively (single-dose group); (2) clindamycin administered preoperatively with continued therapy for 5 days (5-day group); and (3) a placebo group. The following parameters were evaluated on the first, second and seventh days postsurgery: trismus, facial swelling, body temperature, lymphadenopathy, alveolar osteitis and subjective pain sensations. There were 86 patients (31 in the single-dose group, 28 in the 5-day group and 27 in the placebo group) enrolled in the study. There were no statistically significant differences in postoperative inflammatory complications in patients during the first and second days postsurgery. A statistically significant variation in body temperature was reported on the seventh day. Analysis of the postoperative analgesic intake did not show statistically significant differences between examined groups. Clindamycin applied in a single preoperative dose of 600 mg with or without subsequent 5-day therapy does not demonstrate efficacy in prophylaxis for postoperative inflammatory complications after third molar surgery.

APOE epsilon4 is associated with impaired verbal learning in patients with MS.

OBJECTIVE: To investigate the effect of APOE epsilon4 on different cognitive domains in a population of Greek patients with multiple sclerosis (MS). METHODS: A total of 125 patients with MS and 43 controls were included in this study and underwent neuropsychological assessment with Rao's Brief Repeatable Battery. All patients with MS were genotyped for APOE. The effect of APOE epsilon4 on different cognitive domains was investigated. RESULTS: Fifty-one percent of patients with MS were cognitively impaired. E4 carriers had a sixfold increase in the relative risk of impairment in verbal learning vs noncarriers (OR 6.28, 95% CI 1.74 to 22.69). This effect was domain-specific and was not observed in other cognitive domains assessed by the battery. CONCLUSION: We found an association of APOE epsilon4 with impaired verbal learning in patients with multiple sclerosis.

[Superficial siderosis of the CNS. Case report and literature review]. / Superfizielle Siderose des ZNS. Fallbericht und Literaturübersicht.

Superficial siderosis of the central nervous system is caused by destructive deposition of haemosiderin in the leptomeninges and subpial layers of the brain and spinal cord. This deposition is the result of continuous or recurrent, often clinically silent, haemorrhage in the subarachnoid space, eventually without an evident bleeding source. Cerebellar ataxia, progressive bilateral sensorineural hearing loss, pyramidal tract signs, and dementia are the major clinical findings. The diagnosis is supported in vivo by the characteristic symptom constellation,xanthochromic cerebrospinal fluid,and typical MRI findings which show on the surface of the brainstem, cerebellum, cortex, and spinal cord. Early recognition of this rare entity may be of relevance for the further course and prognosis.

Platelet monoamine oxidase activity in subjects tested for Huntington's disease gene mutation.

Monoamine oxidase activity (MAO) has been related to neuronal damage, since the oxidative deamination of biogenic amines produces free radicals that may enhance oxidative stress. Elevated enzyme activities in brain (MAO-A and MAO-B forms) and in platelets (MAO-B form) have been reported in several degenerative diseases, indicating that MAO activity may be involved in the disease progression. We estimated platelet MAO activity in a group of 59 patients (34 males) with HD, 20 subjects (7 males) at risk, and 29 (14 males) healthy subjects with positive family history for HD, categorized according to clinical features and the number of CAG repeat units (CAG-RN) at the Huntington gene. A group of 64 subjects (36 males) with negative family history for HD served as controls. In contrast to some previous studies, platelet MAO activities in both male and female patients (CAG-RN 40 to 62) with overt symptomatology, were not different compared to same sex control subjects. Subjects at risk (CAG-RN 39 to 52), though, showed significantly lower activities compared to same sex patients or controls. MAO activities seem to increase with disease progression, and tend to be higher in patients with dementia. The increases may be an epiphenomenon of disease pathology, but the possibility that an increase in the expression of the enzyme precedes the onset of the disease and contributes to enhanced oxidative stress should be considered in future longitudinal studies as a possible mechanism that accelerates disease progression.