An item response analysis of the motor and behavioral subscales of the unified Huntington's disease rating scale in huntington disease gene expansion carriers

Although the Unified Huntington's Disease Rating Scale (UHDRS) is widely used in the assessment of Huntington disease (HD), the ability of individual items to discriminate individual differences in motor or behavioral manifestations has not been extensively studied in HD gene expansion carriers without a motor-defined clinical diagnosis (ie, prodromal-HD or prHD). To elucidate the relationship between scores on individual motor and behavioral UHDRS items and total score for each subscale, a nonparametric item response analysis was performed on retrospective data from 2 multicenter longitudinal studies. Motor and behavioral assessments were supplied for 737 prHD individuals with data from 2114 visits (PREDICT-HD) and 686 HD individuals with data from 1482 visits (REGISTRY). Option characteristic curves were generated for UHDRS subscale items in relation to their subscale score. In prHD, overall severity of motor signs was low, and participants had scores of 2 or above on very few items. In HD, motor items that assessed ocular pursuit, saccade initiation, finger tapping, tandem walking, and to a lesser extent, saccade velocity, dysarthria, tongue protrusion, pronation/supination, Luria, bradykinesia, choreas, gait, and balance on the retropulsion test were found to discriminate individual differences across a broad range of motor severity. In prHD, depressed mood, anxiety, and irritable behavior demonstrated good discriminative properties. In HD, depressed mood demonstrated a good relationship with the overall behavioral score. These data suggest that at least some UHDRS items appear to have utility across a broad range of severity, although many items demonstrate problematic features.

ATD: a multiplatform for semiautomatic 3-D detection of kidneys and their pathology in real time

This research presents a novel multi-functional system for medical Imaging-enabled Assistive Diagnosis (IAD). Although the IAD demonstrator has focused on abdominal images and supports the clinical diagnosis of kidneys using CT/MRI imaging, it can be adapted to work on image delineation, annotation and 3D real-size volumetric modelling of other organ structures such as the brain, spine, etc. The IAD provides advanced real-time 3D visualisation and measurements with fully automated functionalities as developed in two stages. In the first stage, via the clinically driven user interface, specialist clinicians use CT/MRI imaging datasets to accurately delineate and annotate the kidneys and their possible abnormalities, thus creating “3D Golden Standard Models”. Based on these models, in the second stage, clinical support staff i.e. medical technicians interactively define model-based rules and parameters for the integrated “Automatic Recognition Framework” to achieve results which are closest to that of the clinicians. These specific rules and parameters are stored in “Templates” and can later be used by any clinician to automatically identify organ structures i.e. kidneys and their possible abnormalities. The system also supports the transmission of these “Templates” to another expert for a second opinion. A 3D model of the body, the organs and their possible pathology with real metrics is also integrated. The automatic functionality was tested on eleven MRI datasets (comprising of 286 images) and the 3D models were validated by comparing them with the metrics from the corresponding “3D Golden Standard Models”. The system provides metrics for the evaluation of the results, in terms of Accuracy, Precision, Sensitivity, Specificity and Dice Similarity Coefficient (DSC) so as to enable benchmarking of its performance. The first IAD prototype has produced promising results as its performance accuracy based on the most widely deployed evaluation metric, DSC, yields 97% for the recognition of kidneys and 96% for their abnormalities; whilst across all the above evaluation metrics its performance ranges between 96% and 100%. Further development of the IAD system is in progress to extend and evaluate its clinical diagnostic support capability through development and integration of additional algorithms to offer fully computer-aided identification of other organs and their abnormalities based on CT/MRI/Ultra-sound Imaging.

Translation and usability of autism screening and diagnostic tools for autism spectrum conditions in India

There is a critical need for screening and diagnostic tools (SDT) for autism spectrum conditions (ASC) in regional languages in South Asia. To address this, we translated four widely used SDT (Social Communication Disorder Checklist, Autism Spectrum Quotient, Social Communication Questionnaire, and Autism Diagnostic Observation Schedule) into Bengali and Hindi, two main regional languages (∼ 360 million speakers), and tested their usability in children with and without ASC. We found a significant difference in scores between children with ASC (n = 45 in Bengali, n = 40 in Hindi) and typically developing children (n = 43 in Bengali, n = 42 in Hindi) on all SDTs. These results demonstrate that these SDTs are usable in South Asia, and constitute an important resource for epidemiology research and clinical diagnosis in the region.

Fruits, vegetables, 100% juice, and cognitive function

Although reviews of the association between polyphenol intake and cognition exist, research examining the cognitive effects of fruit, vegetable, and juice consumption across epidemiological and intervention studies has not been previously examined. Critical inclusion criteria were human participants, a measure of fruit, vegetable, or 100% juice consumption, an objective measure of cognitive function, and a clinical diagnosis of neuropsychological disease. Studies were excluded if consumption of fruit, vegetables, or juice was not assessed in isolation from other foods groups, or if there was no statistical control for education or IQ. Seventeen of 19 epidemiological studies and 3 of 6 intervention studies reported significant benefits of fruit, vegetable, or juice consumption for cognitive performance. The data suggest that chronic consumption of fruits, vegetables, and juices is beneficial for cognition in healthy older adults. The limited data from acute interventions indicate that consumption of fruit juices can have immediate benefits for memory function in adults with mild cognitive impairment; however, as of yet, acute benefits have not been observed in healthy adults. Conclusions regarding an optimum dietary intake for fruits, vegetables, and juices are difficult to quantify because of substantial heterogeneity in the categorization of consumption of these foods.

Endocannabinoid signaling in autism

Autism spectrum disorder (ASD) is a complex behavioral condition with onset during early childhood and a lifelong course in the vast majority of cases. To date, no behavioral, genetic, brain imaging, or electrophysiological test can specifically validate a clinical diagnosis of ASD. However, these medical procedures are often implemented in order to screen for syndromic forms of the disorder (i.e., autism comorbid with known medical conditions). In the last 25 years a good deal of information has been accumulated on the main components of the “endocannabinoid (eCB) system”, a rather complex ensemble of lipid signals (“endocannabinoids”), their target receptors, purported transporters, and metabolic enzymes. It has been clearly documented that eCB signaling plays a key role in many human health and disease conditions of the central nervous system, thus opening the avenue to the therapeutic exploitation of eCB-oriented drugs for the treatment of psychiatric, neurodegenerative, and neuroinflammatory disorders. Here we present a modern view of the eCB system, and alterations of its main components in human patients and animal models relevant to ASD. This review will thus provide a critical perspective necessary to explore the potential exploitation of distinct elements of eCB system as targets of innovative therapeutics against ASD.

A novel bradykinin potentiating peptide isolated from Bothrops jararacussu venom using catallytically inactive oligopeptidase EP24.15

Characterization of the peptide content of venoms has a number of potential benefits for basic research, clinical diagnosis, development of new therapeutic agents, and production of antiserum. Here, we use a substrate-capture assay that employs a catalytically inactive mutant of thimet oligopeptidase (EC 3.4.24.15; EP24.15) to identify novel bioactive peptides in Bothrops jararacussu venom. Of the peptides captured with inactive EP24.15 and identified by mass spectrometry, three were previously identified bradykinin-potentiating peptides (BPP), < ENWPHPQIPP (Xc), < EGGWPRPGPEIPP (XIIIa) and < EARPPHPPIPP (XIe) (where < E is a pyroglutamyl residue). In addition, we identified a novel BPP peptide containing additional AP amino acids in the C-terminus (< EARPPHPPIPPAP); this novel peptide was named BPP-AP. Next, dermal and muscle microcirculations were visualized using intravital microscopy to establish the roles of peptides BPP-XIe and BPP-AP in this process. After local administration of peptide BPP-XIe (0.5 mu g.mu L-1), leukocyte rolling flux and adhesion were increased by fivefold in post-capillary venules, without any increments in vasodilatation of arterioles compared to control experiments. In contrast, local administration of BPP-AP (0.5 mu g.mu L-1) potently induced vasodilatation of arterioles (nearly 100% increase compared with the vehicle saline control), with only a small increase in leukocyte rolling flux. Therefore, the novel BPP-AP described herein has pharmacological advantages compared to the BPP-XIe. The present study further suggests that inactive oligopeptidase EP24.15 is a useful tool for the isolation of bioactive peptides from crude biological samples.

Neurofilament heavy subunit in cerebrospinal fluid: A biomarker of amyotrophic lateral sclerosis?

The objectives of this study were to investigate the presence of the three neurofilament subunits, ubiquitin, proteasome and 3-nitrotyrosine, in CSF samples of ALS patients. CSF samples were obtained by lumbar puncture from 10 ALS patients and six controls. All samples were analysed by Western blotting. Results revealed that neurofilament heavy subunit was identified in 70% of ALS cases and we conclude that this subunit may be a promising biomarker for clinical diagnosis of ALS.

Risk factors for dengue virus infection in rural Amazonia: Population-based cross-sectional surveys

A comparison of dengue virus (DENV) antibody levels in paired serum samples collected from predominantly DENV-naive residents in an agricultural settlement in Brazilian Amazonia (baseline seroprevalence, 18.3%) showed a seroconversion rate of 3.67 episodes/100 person-years at risk during 12 months of follow-up. Multivariate analysis identified male sex, poverty, and migration from extra-Amazonian states as significant predictors of baseline DENY seropositivity, whereas male sex, a history of clinical diagnosis of dengue fever, and travel to an urban area predicted subsequent seroconversion. The laboratory surveillance of acute febrile illnesses implemented at the study site and in a nearby town between 2004 and 2006 confirmed 11. DENV infections among 102 episodes studied with DENV IgM detection, reverse transcriptase-polymerise chain reaction, and virus isolation; DENV-3 was isolated. Because DENV exposure is associated with migration or travel, personal protection measures when visiting high-risk urban areas may reduce the incidence of DENV infection in this rural population.

Investigation of the Europium Emission Spectra of the Europium-Oxytetracycline Complex in the Presence of Human Low-Density Lipoproteins

Low-Density Lipoprotein (LDL), often known as ""bad cholesterol"" is one of the responsible to increase the risk of coronary arterial diseases. For this reason, the cholesterol present in the LDL particle has become one of the main parameters to be quantified in routine clinical diagnosis. A number of tools are available to assess LDL particles and estimate the cholesterol concentration in the blood. The most common methods to quantify the LDL in the plasma are the density gradient ultracentrifugation and nuclear magnetic resonance (NMR). However, these techniques require special equipments and can take a long time to provide the results. In this paper, we report on the increase of the Europium emission in Europium-oxytetracycline complex aqueous solutions in the presence of LDL. This increase is proportional to the LDL concentration in the solution. This phenomenum can be used to develop a method to quantify the number of LDL particles in a sample. A comparison between the performances of the oxytetracycline and the tetracycline in the complexes is also made.

Noninvasive Evaluation of Oral Lesions Using Depth-sensitive Optical Spectroscopy

BACKGROUND: Optical spectroscopy is a noninvasive technique with potential applications for diagnosis of oral dysplasia and early cancer. In this study, we evaluated the diagnostic performance of a depth-sensitive optical spectroscopy (DSOS) system for distinguishing dysplasia and carcinoma from non-neoplastic oral mucosa. METHODS: Patients with oral lesions and volunteers without any oral abnormalities were recruited to participate. Autofluorescence and diffuse reflectance spectra of selected oral sites were measured using the DSOS system. A total of 424 oral sites in 124 subjects were measured and analyzed, including 154 sites in 60 patients with oral lesions and 270 sites in 64 normal volunteers. Measured optical spectra were used to develop computer-based algorithms to identify the presence of dysplasia or cancer. Sensitivity and specificity were calculated using a gold standard of histopathology for patient sites and clinical impression for normal volunteer sites. RESULTS: Differences in oral spectra were observed in: (1) neoplastic versus nonneoplastic sites, (2) keratinized versus nonkeratinized tissue, and (3) shallow versus deep depths within oral tissue. Algorithms based on spectra from 310 nonkeratinized anatomic sites (buccal, tongue, floor of mouth, and lip) yielded an area under the receiver operating characteristic curve of 0.96 in the training set and 0.93 in the validation set. CONCLUSIONS: The ability to selectively target epithelial and shallow stromal depth regions appeared to be diagnostically useful. For nonkeratinized oral sites, the sensitivity and specificity of this objective diagnostic technique were comparable to that of clinical diagnosis by expert observers. Thus, DSOS has potential to augment oral cancer screening efforts in community settings. Cancer 2009;115:1669-79. (C) 2009 American Cancer Society.

Preparation and photoluminescence properties of functionalized silica materials incorporating europium complexes

In the present work, the surface of the Eu-BTC = [Eu(EMA)(H(2)O)(2)], [Eu(TLA)(H(2)O)(4)] and [Eu(TMA)(H(2)O)(6)] complexes (EMA = 1,2,3-benzenetricarboxylate, TLA = 1,2,4-benzenetricarboxylate and TMA = 1,3,5-benzenetricarboxylate) was modified using 3-aminopropyltriethoxysilane (APTES) by a new microwave assisted method that proved to be simple and efficient. According to our observations, the most efficient luminescence is the material based on APTES incorporating [Eu(TMA)(H(2)O)(6)] complexes, denoted as Eu-TMA-Si, shows the highest emission efficiency. Therefore, it is proposed as a promising material for molecular conjugation in clinical diagnosis. (C) 2011 Elsevier B.V. All rights reserved.

Painful nipples in nursing mothers: fungal or staphylococcal?

Painful nipples, or ‘breast thrush’, in nursing mothers is a well recognised condition. It is a clinical diagnosis characterised by intense nipple pain often radiating into the breast, especially during breastfeeding. Between feeds it may cause a burning sensation and tenderness; breastfeeding may be abandoned because of it.

The ultrasound appearance of the patellar tendon attachment to the tibia in young athletes is conditional on gender and pubertal stage

This cross-sectional study investigated the imaging appearance of the previous termpatellarnext term tendon attachment to the tibia in young male and female tennis players of different ages and pubertal status. Forty-four competitive young players, who had been playing tennis at least for 2 years, were recruited from a tennis school and local tennis clubs. All subjects had bilateral ultrasound imaging of the previous termpatellarnext term tendon attachment to the tibia. Standard anthropometric measurements, pubertal status and injury history were recorded. Ultrasound appearance of the previous termpatellarnext term tendon attachment was categorised into three stages: cartilage attachment, insertional cartilage and mature attachment. Cartilage attachment was more prevalent in boys (32%) and extended further into puberty (until Tanner stage 4) compared to girls (6% and Tanner stage 1). Tendons with Osgood–Schlatter Disease symptoms (n = 3) did not have a cartilage attachment. Imaging appearance commonly seen in young active athletes, consistent with a clinical diagnosis of OSD, was more common in boys and in the pre- and peri-pubertal stages.

Age-specific norms and determinants of anxiety and depression in 731 women with breast cancer recruited through a population-based cancer registry

The aim of this study was to determine population norms and determinants of anxiety and depression in a population-based sample of 731 women with breast cancer (aged 23–60 years) with the Hospital Anxiety and Depression scale (HADS). The prevalence of ‘probable’ psychological morbidity due to anxiety was 23% and due to depression was 3%. When the women identified as ‘possible’ cases were included, the respective proportions were 45 and 12%. Higher anxiety was present in younger, less educated women not born in Australia. There was no clear pattern of risk factors for depression. These population-based findings highlight the need for clinicians to be aware that age, education and country of birth may identify a particularly vulnerable subgroup. While brief scales such as the HADS are limited in their ability to accurately predict a clinical diagnosis, high scores identify those who may warrant referral for clinical evaluation.

Selective chemical measurement based upon chemiluminescence detection

This thesis describes the utilisation of chemiluminescence (chemically generated light) for clinical diagnosis and process monitoring. Innovative instrumentation was developed for the direct monitoring of toxin levels in patients undergoing haemodialysis. This unique approach enables the efficacy of individual treatments to be continuously assessed thus enhancing patient outcomes.