Impact of Lexical Parameters and Audibility on the Recognition of the Freiburg Monosyllabic Speech Test.

OBJECTIVE: Correct word recognition is generally determined by audibility, but lexical parameters also play a role. The focus of this study was to examine both the impact of audibility and lexical parameters on speech recognition of test words of the clinical German Freiburg monosyllabic speech test, and subsequently on the perceptual imbalance of test lists observed in the literature. DESIGN: For 160 participants with normal hearing that were divided into three groups with different simulated hearing thresholds, monaural speech recognition for the Freiburg monosyllabic speech test was obtained via headphones in quiet at different presentation levels. A software manipulated the original speech material to simulate two different hearing thresholds. All monosyllables were classified according to their frequency of occurrence in contemporary language and the number of lexical neighbors using the Cross-Linguistic Easy-Access Resource for Phonological and Orthographic Neighborhood Density database. Generalized linear mixed-effects regression models were used to evaluate the influences of audibility in terms of the Speech Intelligibility Index and lexical properties of the monosyllables in terms of word frequency (WF) and neighborhood density (ND) on the observed speech recognition per word and per test list, respectively. RESULTS: Audibility and interactions of audibility with WF and ND correctly predicted identification of the individual monosyllables. Test list recognition was predicted by test list choice, audibility, and ND, as well as by interactions of WF and test list, audibility and ND, ND and test list, and audibility per test list. CONCLUSIONS: Observed differences in speech recognition of the Freiburg monosyllabic speech test, which are well reported in the literature, depend not only on audibility but also on WF, neighborhood density, and test list choice and their interactions. The authors conclude that future creations of speech test material should take these lexical parameters into account.

Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria.

BACKGROUND: Genes for fucosyltransferases 1 (FUT1:H), 2 (FUT2:Secretor), and 3 (FUT3:Lewis) encode enzymes crucial for ABH and Lewis blood group antigen synthesis. They are highly polymorphic and ethnically and geographically specific. STUDY DESIGN AND METHODS: Genetic variations and allele frequencies of FUT1, FUT2, and FUT3 encoding regions and flanking sequences were analyzed in 100 Styrian blood donors by systematic sequencing. Haplotypes were verified with sequence-specific primers. To identify discrepancies, serologically determined ABO and Lewis blood groups were correlated to respective genotypes. RESULTS: Two novel FUT1 alleles were defined by 9C>T (silent) and 991C>A (P331T) mutations, the latter located in the catalytic domain of the enzyme. Five new alleles of FUT2 were found: three were characterized by new variants and two resulted from new combinations of known polymorphisms. The new 412G>A (G138S) mutation also is located in the catalytic domain. A new nonsecretor allele, based on the presence of 428G>A (nonsense), was found. Another FUT2 allele may have resulted from an intragenic crossover event. FUT3 analysis revealed seven novel alleles, partly based on the new mutations 41G>A (R14H), 1060C>G (R354G), 735G>C (silent), and 882C>T (silent). While 41G>A is placed in the cytoplasmic domain and functional, 1060C>G is placed in the catalytic domain. CONCLUSION: Multiple common and sporadic sequence variations including 14 new alleles at FUT1, FUT2, and FUT3 loci were identified. Four novel mutations result in amino acid substitution in the protein. Three of them are predicted to have adverse effects on the enzyme activity. A novel nonsecretor allele was found.

New insights into Early Celtic consumption practices: Organic residue analyses of local and imported pottery from Vix-Mont Lassois.

The rich Mediterranean imports found in Early Celtic princely sites (7th-5th cent. BC) in Southwestern Germany, Switzerland and Eastern France have long been the focus of archaeological and public interest. Consumption practices, particularly in the context of feasting, played a major role in Early Celtic life and imported ceramic vessels have consequently been interpreted as an attempt by the elite to imitate Mediterranean wine feasting. Here we present the first scientific study carried out to elucidate the use of Mediterranean imports in Early Celtic Central Europe and their local ceramic counterparts through organic residue analyses of 99 vessels from Vix-Mont Lassois, a key Early Celtic site. In the Mediterranean imports we identified imported plant oils and grape wine, and evidence points towards appropriation of these foreign vessels. Both Greek and local wares served for drinking grape wine and other plant-based fermented beverage(s). A wide variety of animal and plant by-products (e.g. fats, oils, waxes, resin) were also identified. Using an integrative approach, we show the importance of beehive products, millet and bacteriohopanoid beverage(s) in Early Celtic drinking practices. We highlight activities related to biomaterial transformation and show intra-site and status-related differences in consumption practices and/or beverage processing.

The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex.

INTRODUCTION: In children who remain incontinent after reconstruction of bladder exstrophy-epispadias complex (BEEC), continent anal urinary diversion (CAD) is one option to achieve continence. Known problems after CAD are an increased stool frequency and ureterointestinal stenosis. We devised a new surgical technique of CAD that we named the "Cologne pouch procedure" (CPP) that renders the possibility of separate evacuation of urine and feces. Furthermore, we connect the bladder plate to the rectosigmoid pouch instead of performing a ureterosigmoidostomy to reduce the rate of ureterointestinal stenosis. In this study, we want to introduce the CCP and critically evaluate our results. STUDY DESIGN: In CPP a detubularized sigmoid-bladder pouch is created, which is naturally connected to the rectum. A retrospective study was performed including all patients with BEEC and CPP treated in our hospital between January 1, 2007, and December 31, 2016. Epidemiological and surgical key data, complications, and the need for alkaline supplementation were assessed. At follow-up examinations, we evaluated continence, ability of independent urine and feces evacuation, need for bicarbonate supplementation, status of the upper urinary tract, and complications such as urinary tract infections or urolithiasis. RESULTS: In total, 29 patients with BEEC and CPP were included. The mean age at surgery was 4.2 ± 3.3 years (range 0.1-12.7 years). Overall, 14 short-term complications occurred in nine patients. Postoperatively, all patients were continent for urine and feces during daytime and only one child occasionally lost small portions of urine at night. An independent evacuation of urine and feces was accomplished in 22 patients (81.5%). Continued bicarbonate supplementation was necessary in 15 patients (55.6%). During the follow-up period six patients (22.2%) had a single urinary tract infection and four patients (14.8%) calculi of the urinary tract. No urinary tract abnormalities-especially no vesicoureteral reflux (VUR) or stenosis-were detected during follow-up ultrasound examination. In two children, a preoperatively known hydronephrosis decreased after CPP. CONCLUSION: CPP is a novel technique that yields excellent results concerning continence. In contrast to other forms of rectosigmoid urinary diversion, functional separation of defecation and urination can be achieved in most patients.

Myocarditis in systemic lupus erythematosus diagnosed by 18F-fluorodeoxyglucose positron emission tomography.

OBJECTIVES: Cardiovascular diseaseand heart failure (CHF) are leading causes of death in systemic lupus erythematosus (SLE). The underlying mechanisms for increased CHF in SLE are unclear but myocardial inflammation and lupus myocarditis (LM) may play a role. We propose that 18F-fluorodeoxyglucose-positron emission tomography (18F-FDG-PET)/CT can help diagnose LM. METHODS: This report describes eight patients with presumed LM; five patients were evaluated due to active cardiorespiratory symptoms and three patients were participating in a pilot study to determine the prevalence of subclinical myocarditis in SLE. Clinical characteristics, laboratory and cardiac testing including electrocardiography (ECG), transthoracic echocardiogram (TTE), coronary artery evaluation as well as 18F-FDG-PET/CT imaging are discussed. RESULTS: Four patients were African American and the others were Hispanic. Half presented with chest pain; 37% had dyspnoea and 25% were asymptomatic. The median SLE Disease Activity Index (SLEDAI-2K) was 5 (2-18) and SLICC Damage Index (SDI) 0.5 (0-5). The median troponin level was 0.08 ng/mL (0-0.9). The most common ECG findings were non-specific ST-T wave abnormalities (n=5). Fifty per cent of the patients had a decreased ejection fraction on TTE and all patients had diffuse myocardial FDG uptake on 18F-FDG-PET/CT consistent with myocardial inflammation. CONCLUSION: This case series is the first to describe the use of 18F-FDG-PET/CT in the diagnosis of LM and discuss the clinical characteristics and cardiac findings of eight patients with LM supporting the role for cardiac 18F-FDG-PET/CT in its diagnosis.

CD24 expression in urothelial carcinoma of the upper urinary tract correlates with tumour progression.

Expression of the mucin-like adhesion molecule CD24 has been implicated in the progression of several types of cancer and has been identified as new prognostic factor. We evaluated CD24 expression in 268 consecutive cases of upper urinary tract urothelial carcinoma with respect to associations with tumour stage, grade, angioinvasion and infiltrative growth pattern using a tissue microarray technique and correlated data with patient outcome. CD24 expression was demonstrated in 161/259 (62%) evaluable tumours and was associated with high tumour stage [77/139 (55%) pTa/pT1 vs 84/120 (70%) pT2-pT4; P=0.02] and high tumour grade [68/139 (49%) low vs 93/120 (78%) high grade; P<0.001] as well as presence of angioinvasion (P=0.002) and infiltrative pattern of invasion (P=0.007). Patients with CD24-positive tumours tended to have a higher risk of disease progression (P=0.065). Multivariate analysis, however, proved pT stage >1 [P<0.001, risk ratio (RR)=5.87, 95% confidence interval (CI)=2.88-11.95] and high tumour grade (P<0.001, RR=3.30, 95% CI 1.75-6.22) as only independent predictors of metastatic disease. In conclusion, CD24 expression in upper urinary tract urothelial cancer is associated with advanced tumour stage and high tumour grade as well as histopathological features indicative of aggressive tumour behaviour, but it lacks independent impact on patient outcome.

Juvenile polyposis of the stomach causing recurrent upper gastrointestinal bleeding.

We present the case of a 42-year-old man who suffered from recurrent severe upper gastrointestinal bleeding starting from February 2003. Endoscopy showed multiple glassy polyps in the stomach, which corresponded to a diffuse mucosal thickening detected by endosonography. The duodenum was normal. In February 2006, life-threatening acute gastrointestinal bleeding prompted total gastrectomy. The resection specimen showed the gastric mucosa carpeted by numerous glassy pedunculated polyps, measuring 2 cm in largest diameter. Histologically, the polyps were characterized by an abundant loose stroma and by elongated, twisting foveolae, covered by hyperplastic epithelium. Colonoscopy including the terminal ileum revealed a single tubulovillous adenoma, but no hamartomatous polyps, rendering a final diagnosis of juvenile polyposis of the stomach. This case represents the first description of juvenile polyposis causing life-threatening gastric haemorrhage. Thus, although rare, the disease has to be considered in the differential diagnosis of patients with acute upper gastrointestinal tract bleeding.

Open Versus Closed Hearing-Aid Fittings: A Literature Review of Both Fitting Approaches.

One of the main issues in hearing-aid fittings is the abnormal perception of the user's own voice as too loud, "boomy," or "hollow." This phenomenon known as the occlusion effect be reduced by large vents in the earmolds or by open-fit hearing aids. This review provides an overview of publications related to open and closed hearing-aid fittings. First, the occlusion effect and its consequences for perception while using hearing aids are described. Then, the advantages and disadvantages of open compared with closed fittings and their impact on the fitting process are addressed. The advantages include less occlusion, improved own-voice perception and sound quality, and increased localization performance. The disadvantages associated with open-fit hearing aids include reduced benefits of directional microphones and noise reduction, as well as less compression and less available gain before feedback. The final part of this review addresses the need for new approaches to combine the advantages of open and closed hearing-aid fittings.

A Phoneme Perception Test Method for High-Frequency Hearing Aid Fitting.

BACKGROUND: Outcomes with hearing aids (HAs) can be assessed using various speech tests, but many tests are not sensitive to changes in high-frequency audibility. PURPOSE: A Phoneme Perception Test (PPT), designed for the phonemes /s/ and /ʃ/, has been developed to investigate whether detection and recognition tasks are able to measure individual differences in phoneme audibility and recognition for various hearing instrument settings. These capabilities were studied using two different fricative stimulus materials. The first set of materials preserves natural low-level sound components in the low- and mid-frequency ranges (LF set); the second set of materials attempts to limit the audibility to high-frequency fricative noise (nLF set). To study the effect on phoneme detection and recognition when auditory representations of /s/ and /ʃ/ are modified, a too strong nonlinear frequency compression (NLFC) setting was applied. RESEARCH DESIGN: Repeated measure design was used under several different conditions. STUDY SAMPLE: A total of 31 hearing-impaired individuals participated in this study. Of the 31 participants, 10 individuals did not own HAs but were provided with them during the study and 21 individuals owned HAs and were experienced users. All participants had a symmetrical sensorineural hearing loss. DATA COLLECTION AND ANALYSIS: The present study applied a phoneme detection test and a recognition test with two different stimulus sets under different amplification conditions. The statistical analysis focused on the capability of the PPT to measure the effect on audibility and perception of high-frequency information with and without HAs, and between HAs with two different NLFC settings ("default" and "too strong"). RESULTS: Detection thresholds (DTs) and recognition thresholds (RTs) were compared with respective audiometric thresholds in the free field for all available conditions. Significant differences in thresholds between LF and nLF stimuli were observed. The thresholds for nLF stimuli showed higher correlation to the corresponding audiometric thresholds than the thresholds for LF stimuli. The difference in thresholds for unaided and aided conditions was larger for the stimulus set nLF than for the stimulus set LF. Also, thresholds were similar in both aided conditions for stimulus set LF, whereas a large difference between amplifications was observed for the stimulus set nLF. When NLFC was set "too strong," DTs and RTs differed significantly for /s/. CONCLUSIONS: The findings from this study strongly suggest that measuring DTs and RTs with the stimulus set nLF is beneficial and useful to quantify the effects of HAs and NLFC on high-frequency speech cues for detection and recognition tasks. The findings also suggest that both tests are necessary because they assess audibility as well as recognition abilities, particularly as they relate to speech modification algorithms. The experiments conducted in this study did not allow for any acclimatization of the participants to increased high-frequency gain or NLFC. Further investigations should therefore examine the impact on DTs and RTs in the PPT as well as the contrasting effects of strong setting of NLFC to DTs and RTs because of (re)learning of modified auditory representations of /s/ and /ʃ/ as caused by NLFC.

A Case of Docetaxel Induced Myositis and Review of the Literature.

In phase I and II trials taxane chemotherapeutic agents reported side effects, including myelosuppression, peripheral edema, and fluid retention. With further use of these agents, studies in the late 1980s and early 1990s began to report peripheral neuropathy and proximal muscle weakness as common complaints, the later with unexplained pathophysiology. We report a 65-year-old Hispanic woman with estrogen receptor (ER) and progesterone receptor (PR) positive invasive ductal breast carcinoma who presented with right thigh pain and swelling eight days after her third infusion of docetaxel (a taxane chemotherapeutic) and cyclophosphamide. Laboratory findings were notable for elevation in creatine phosphokinase (CPK), aldolase, and erythrocyte sedimentation rate (ESR); a magnetic resonance imaging (MRI) of her lower extremities showed evidence of bilateral muscle edema involving the anterior compartment muscles of the thighs. A workup to rule out other causes of myositis was negative. Docetaxel was not reintroduced and the patient improved with corticosteroids. Since 2005 this is, to our knowledge, the fifth reported case of docetaxel related inflammatory myositis. Taxanes have been noted to cause disabling but transient arthralgias and myalgias; it is important to consider the possibility of inflammatory myopathy as a possible complication in patients undergoing treatment with these agents.

Diffuse cutaneous mucinosis in dermatomyositis: a case report and review of the literature.

We present the case of a patient with dermatomyositis and diffuse cutaneous mucinosis and give an up-to-date detailed review of all the published cases in the English literature describing the demographics, clinical picture, pathology management, and outcomes of this unique group of patients.

Preoperative decision making for renal cell carcinoma: cystic morphology in cross-sectional imaging might predict lower malignant potential.

OBJECTIVES: Several histologic studies showed more favorable oncologic outcome for renal cell carcinoma (RCC) with cystic change. However, there is no prognostic tool to judge on cystic RCC preoperatively. We hypothesized, that cystic morphology in cross-sectional imaging predicts lower malignant potential. MATERIALS AND METHODS: From our prospectively conducted oncologic database, we identified 825 patients who underwent surgery for malignant renal tumors between 2001 and 2010. In 348 cases (42%), adequate imaging was available for an independent review by 2 radiologists. We excluded recurrent and synchronous bilateral RCC, familial syndromes, collecting duct carcinoma, and metastases of other origin. For the resulting 319 patients, we compared clinical, pathologic, and survival outcomes. RESULTS: Median age was 63 (19-88) years and 220 (69%) patients were male. Median follow-up was 1.7 (0-9.8) years. Of 319 renal masses, 277 (86.8%) were solid and 42 (13.2%) were cystic. In cystic RCC, median tumor diameter was lower (3 cm vs. 4 cm, P = 0.002) and nephron-sparing surgery was more frequent (69% vs. 41.5%, P = 0.002). None of the patients with cystic RCC and 56 (20.2%) with solid RCC had synchronous systemic disease (P = 0.001). The nuclear grade of cystic RCC was more favorable (P = 0.002). Patients with cystic RCC showed better overall (P = 0.049) and cancer-specific survival (P = 0.027). In a multivariate model, only synchronous metastases, positive R status, and greater tumor diameter were independent risk factors (P ≤ 0.03). CONCLUSIONS: We report the first study to show that cystic morphology in cross-sectional imaging might predict RCC with a lower malignant potential. This insight could allow less invasive treatment strategies in selected patients.

Human gene therapy and imaging in neurological diseases.

Molecular imaging aims to assess non-invasively disease-specific biological and molecular processes in animal models and humans in vivo. Apart from precise anatomical localisation and quantification, the most intriguing advantage of such imaging is the opportunity it provides to investigate the time course (dynamics) of disease-specific molecular events in the intact organism. Further, molecular imaging can be used to address basic scientific questions, e.g. transcriptional regulation, signal transduction or protein/protein interaction, and will be essential in developing treatment strategies based on gene therapy. Most importantly, molecular imaging is a key technology in translational research, helping to develop experimental protocols which may later be applied to human patients. Over the past 20 years, imaging based on positron emission tomography (PET) and magnetic resonance imaging (MRI) has been employed for the assessment and "phenotyping" of various neurological diseases, including cerebral ischaemia, neurodegeneration and brain gliomas. While in the past neuro-anatomical studies had to be performed post mortem, molecular imaging has ushered in the era of in vivo functional neuro-anatomy by allowing neuroscience to image structure, function, metabolism and molecular processes of the central nervous system in vivo in both health and disease. Recently, PET and MRI have been successfully utilised together in the non-invasive assessment of gene transfer and gene therapy in humans. To assess the efficiency of gene transfer, the same markers are being used in animals and humans, and have been applied for phenotyping human disease. Here, we review the imaging hallmarks of focal and disseminated neurological diseases, such as cerebral ischaemia, neurodegeneration and glioblastoma multiforme, as well as the attempts to translate gene therapy's experimental knowledge into clinical applications and the way in which this process is being promoted through the use of novel imaging approaches.