Hepatitis C infection and associated oral health problems

The document attached has been archived with permission from the Australian Dental Association. An external link to the publisher’s copy is included.Hepatitis C infection is widespread throughout the community. This study aimed to assess the status of oral health of persons infected with hepatitis C. DMFT and CPITN indices were recorded at a clinic providing priority dental care for people with hepatitis C infection. The data were compared with information from an existing survey of general dental patients. Social impact Profile questionnaire. The DMFT index differed significantly between hepatitis C and general patients. The number of decayed and missing teeth was greater in those infected with hepatitis C for all patients aged between 25 and 50 years. Although there was no significant difference in CPITN categories for subjects evaluated, a marked trend for poor periodontal health was noted for those individuals with hepatitis C. Salivary flow was reduced in 50 per cent of hepatitis C infected subjects. Social impact was significantly affected with 71 per cent of hepatitis C subjects reporting painful aching in the mouth and 56 per cent having difficulty in relaxing. In conclusion, the results from the project strongly indicate an urgent need for priority delivery of dental care for people with hepatitis C infection.E. A. Coates, D. Brennan, R. M. Logan, A. N. Goss, B. Scopacasa, A. J. Spencer and E. Gorki

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

<p>Abstract</p> <p>Background</p> <p>Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal recessive nonsyndromic ID (NSID) only 30 loci and 6 genes have been reported to date.</p> <p>Methods</p> <p>Genome-wide homozygosity mapping with 500 K Nsp1 array (Affymetrix), CNV analysis, PCR based breakpoint mapping and DNA sequencing was performed to explore the genetic basis of autosomal recessive nonsyndromic ID in a large Pakistani family.</p> <p>Results</p> <p>Data analysis showed linkage at 8p23 locus with common homozygous region between SNPs rs6989820 and rs2237834, spanning a region of 12.494 Mb. The subsequent CNV analysis of the data revealed a homozygous deletion of 170.673 Kb which encompassed the <it>TUSC3 </it>gene.</p> <p>Conclusion</p> <p>We report a novel deletion mutation in <it>TUSC3 </it>gene which is the second gene after <it>TRAPPC9 </it>in which mutation has been identified in more than one family with autosomal recessive NSID. The study will aid in exploring the molecular pathway of cognition.</p

Operational forecasting of daily summer maximum and minimum temperatures in the Valencia Region

Extreme-temperature events have a great impact on human society. Thus, knowledge of summer temperatures can be very useful both for the general public and for organizations whose workers operate in the open. An accurate forecasting of summer maximum and minimum temperatures could help to predict heatwave conditions and permit the implementation of strategies aimed at minimizing the negative effects that high temperatures have on human health. The objective of this work is to evaluate the skill of the regional atmospheric and modelling system (RAMS) model in determining daily summer maximum and minimum temperatures in the Valencia Region. For this, we have used the real-time configuration of this model currently running at the Centro de Estudios Ambientales de Mediterráneo Foundation. This operational system is run twice a day, and both runs have a 3-day forecast range. To carry out the verification of the model in this work, the information generated by the system has been broken into individual simulation days for a specific daily run of the model. Moreover, we have analysed the summer forecast period from 1 June to 31 August for 2007, 2008, 2009 and 2010. The results indicate good agreement between observed and simulated maximum temperatures, with RMSE in general near 2 °C both for coastal and inland stations. For this parameter, the model shows a negative bias around −1.5 °C in the coast, while the opposite trend is observed inland. In addition, RAMS also shows good results in forecasting minimum temperatures for coastal locations, with bias lower than 1 °C and RMSE below 2 °C. However, the model presents some difficulties for this parameter inland, where bias higher than 3 °C and RMSE of about 4 °C have been found. Besides, there is little difference in both temperatures forecasted within the two daily RAMS cycles and that RAMS is very stable in maintaining the forecast performance at least for three forecast days

A new chemical formulation for control of dental unit water line contamination: An 'in vitro' and clinical 'study'

BACKGROUND: Water delivered by dental units during routine dental practice is highly contaminated. The aim of this study is to evaluate the efficacy of a new chemical solution flushed through Dental Unit Water Lines (DUWL) for the control of contamination inside dental units. MATERIALS AND METHODS: Six old dental units equipped with a device designed to automatically flush disinfecting solutions through the water system (Castellini Autosteril) were selected. Water samples from DUWL effluents were collected in each dental unit for 10 randomly selected days, before and after a 5 minute DUWL disinfecting cycle with TetraAcetylEthileneDiamine (TAED) and persalt (Ster4spray produced by Farmec spa, and distributed by Castellini spa). Water samples were plated in R2A Agar and cultured at room temperature for 7 days, and the total number of heterotrophic microorganisms counted and expressed in Log(10) CFU/mL A general linear model was fitted and multiple regression ANOVA for repeated measures was used for the statistical analysis. RESULTS: The mean contamination in DUWL effluent at baseline was 5.45 ± 0.35 CFU/mL (range 4.79 to 5.93 CFU/mL). When water samples were tested "in vitro" against the chemical, no growth of heterotrophic bacteria was detected after a 5 minute contact in any of the water samples tested. After undergoing a 5 minute disinfecting cycle with the chemical, DUWL mean contamination in water effluents was 2.01 ± 0.32 CFU/mL (range 1.30 to 2.74 CFU/mL) (significant difference with respect to baseline). CONCLUSIONS: An inbetween patient disinfecting procedure consisting of flushing DUWL with TAED and persalt equivalent to 0.26% peracetic acid could be useful in routine dental practice for cross-contamination control

Complex aetiology of an apparently Mendelian form of Mental Retardation

<p>Abstract</p> <p>Background</p> <p>Mental Retardation is a common heterogeneous neurodevelopment condition, which causes are still largely elusive. It has been suggested that half of the phenotypic variation of intelligence is explained by genetic variation. And genetic or inherited factors indeed account for most of the cases of mental retardation with an identifiable cause. However, only a few autosomal genes have been mapped and identified to date. In this report, the genetic causes for an apparently recessive form of mental retardation, in a large nordern swedish pedigree, are investigated.</p> <p>Methods</p> <p>After extensive evaluation of the patients, which ruled out recognizable patterns of malformation and excluded known causes of MR, a comprehensive genome-wide linkage analysis, with 500 microsatellite markers, was performed in 24 members of this family. Additionally, a genome-wide copy number analysis, using an affimetrix 250 K SNP chip, was performed in this pedigree.</p> <p>Results</p> <p>No significant LOD score was found with either parametric and non-parametric linkage analysis. The highest scores are located at chromosomes 13, 15 and 17. Genome-wide copy number analysis identified no clear cause for the disorder; but rather, several variants were present in the family members, irrespective of their affected status.</p> <p>Conclusion</p> <p>These results suggest that mental retardation in this family, unlikely what was expected, has a heterogeneous aetiology; and that several lower effect genes variants might be involved. To demonstrate such effects, our family may be too small. This study also indicates that the ascertainment of the cause of MR may be challenging, and that a complex aetiology may be present even within a pedigree, constituting an additional obstacle for genetic counselling. Variants in genes involved in molecular mechanisms of cellular plasticity, in genes involved in the development of underlying neural architectures, and in genes involved in neurodevelopment and in the ongoing function of terminally differentiated neurons may underlie the phenotypic variation of intelligence and explain instances of intellectual impairment.</p

Surgeon-Performed Ultrasound as Preoperative Localization Study in Patients with Primary Hyperparathyroidism

Background: Minimally invasive parathyroidectomy is the treatment of choice for single-gland primary hyperparathyroidism. However, the exact location of the abnormal gland has to be established. Sestamibi scintigraphy, computed tomography and ultrasound (US) are commonly used modalities. We describe our experience in a non-academic center with surgeon-performed US (S-US) of the neck as preoperative localization study in patients with primary hyperparathyroidism (PHPT). Methods: Patients with a biochemically proven diagnosis of PHPT and preoperative S-US were included. Data were recorded prospectively. Perioperative gland location was compared to the preoperative S-US to determine sensitivity, specificity and accuracy rates. Results: Two of the 50 patients who underwent S-US were not subjected to surgery. In 85% of the patients analyzed by S-US, the appropriate abnormal gland(s) were identified. In 11%, no gland was identified, but abnormal glands were found during surgery. Sensitivity of S-US in our hospital is 85%, with a positive predictive value of 97%. Conclusions: We achieved a satisfactory sensitivity rate. S-US provides anatomic information to the surgeon which enables a more detailed operation planning, and it is a valuable diagnostic modality for patients with PHPT in our opinion. We hope that our data encourage other centers to implement this technique as well. Copyrigh

Genetic variability of histamine receptors in patients with Parkinson's disease

<p>Abstract</p> <p>Background</p> <p>Changes in the density and expression of histamine receptors (HRH) have been detected in Parkinson's disease (PD) patients, and HRH antagonists bring about improvements in motor and other symptoms, thus suggesting that HRH play a role in the clinical response of PD patients. This study is aimed to analyse polymorphic variations of HRH in patients with PD.</p> <p>Methods</p> <p>Leukocytary DNA from 195 PD patients and a control group of 231 unrelated healthy individuals was studied for the nonsynonymous HRH1Leu449Ser and the promoter HRH2G-1018A polymorphisms by using amplification-restriction analyses.</p> <p>Results</p> <p>The HRH1Leu449Ser amino acid substitution was identified in two women with late-onset PD whereas it was not observed among healthy subjects. The HRH2G-1018A polymorphism was observed with allele frequencies = 3.59 (95% CI = 1.74–5.44) and 5.0 (95% CI = 3.00–6.96) for patients with PD and healthy controls, respectively. These frequencies were independent of gender and age of onset of the disease. Multiple comparison analyses revealed that differences were not statistically significant.</p> <p>Conclusion</p> <p>These results indicate that the polymorphisms analyzed are not a major risk factor for PD, although the HRH1Leu449Ser amino acid substitution might be related to PD.</p

The role of rigidity in adaptive and maladaptive families assessed by FACES IV: the points of view of adolescents

Previous studies using Olson’s Circumplex Model and FACES IV, the self-report assessing family functioning, did not clarify the role of rigidity, a dimension of this model. Rigidity emerged as ambiguous: it was considered either as a functional or as a dysfunctional dimension. Building upon the results of previous studies, we provided a contribution intended to disambiguate the role of rigidity considering adolescents’ perceptions and using a non-a priori classification analysis. 320 Italian adolescents (13–21 years) participated in this study and responded to a questionnaire containing scales of the study variables. A latent class analysis was performed to identify the association of rigidity with the other dimensions of Olson’s model and with indicators of adaptive family functioning in adolescence: parental monitoring and family satisfaction. We found six clusters corresponding to family typologies and having different levels of functioning. Rigidity emerged as adaptive in the typologies named rigidly balanced and flexibly oscillating; it was associated with positive dimensions of family functioning, i.e. flexibility, cohesion, parental monitoring, and high levels of family satisfaction. Differently, when rigidity was associated with disengagement, low cohesion and flexibility, and lack of parental supervision, emerged as maladaptive. This was the case of two typologies: the rigidly disengaged and the chaotically disengaged. Adolescents of these families reported the lowest levels of satisfaction. In the two last typologies, the flexibly chaotic and the cohesively disorganized, rigidity indicated a mid-range functionality as these families were characterized by emotional connectedness but lack of containment. Clinical implications are discussed