Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical comparison of hearing‐impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

The aim of the study is to assess clinical characteristics of individuals with nonsyndromic sensorineural hearing loss (NSSNHL) with genetic mutations in GJB2 and/or GJB6. We describe and compare one group with biallelic mutations against a group of heterozygote mutation carriers.
Physiotherapy education in New zealand

Abstract Formal education in physiotherapy has been available in New Zealand since the first school opened at the University of Otago in 1913; a second school was opened in Auckland in 1973. Currently, the University of Otago and Auckland University of Technology each offer a 4-year baccalaureate degree programme that ultimately prepares students for autonomous practice on entry to the profession. The competencies required for entry-level practice are set by the registering authority, the Physiotherapy Board of New Zealand. The physiotherapy programmes offered by the two universities are accredited by the Board; thus, graduates are able to practise without limitation once registered. Physiotherapists are required by statute to undertake on-going professional development and a process of re-certification has been established by the Board to audit a sample of practitioners each year. Key challenges for the Schools of Physiotherapy are to ensure equitable funding from Government and to maintain sufficient quality clinical education opportunities for students. However, these matters cannot stand in the way of the on-going development of physiotherapy programmes that will continue to produce graduates that make a strong contribution to the profession internationally.
Synchronous Bilateral Tonsil Squamous Cell Carcinoma

OBJECTIVE We discuss the treatment and pathology of simultaneous bilateral metastatic palatine tonsil carcinoma. The current literature of the diagnosis and management of unknown primary oropharyngeal neoplasms is reviewed including the role of positron emission tomography (PET) imaging. STUDY DESIGN Squamous cell carcinoma (SCCA) of the palatine tonsil typically presents as a unilateral mass in the oropharynx or as a mass in the ipsilateral neck indicating a lymph node involved with metastasis. The carcinoma rarely presents with involvement of the contralateral lymph nodes, and this situation typically is present only in very advanced local disease. Simultaneous discontiguous disease involving both palatine tonsils is exceedingly rare with less than five cases reported in the medical literature. METHODS Case report and literature review RESULTS This case report involves a 51 year-old male with bilateral palatine tonsil squamous cell carcinoma and bilateral metastatic neck disease. He presented with a left cystic neck mass diagnosed as squamous cell carcinoma by fine needle aspiration. On exam, the site of the primary tumor was suspected to be ipsilateral tonsil. PET scanning demonstrated asymmetric FDG activity in the contralateral palatine tonsil and neck. The patient underwent bilateral transoral robotic-assisted partial oropharyngectomy demonstrating separate tonsillar carcinomas, both of which were HPV positive. Bilateral neck dissections demonstrated metastatic involvement of one right and two left cervical nodes. CONCLUSIONS We describe an exceedingly rare case of bilateral simultaneous metastatic palatine tonsil SCCA. This finding raises the question regarding the need for bilateral tonsillectomy in the case of the unknown primary or proven tonsil carcinoma with HPV positivity.
Mechanisms of resistance in the rice cultivar Manikpukha to the rice stem nematode Ditylenchus angustus.

The incompatible interaction between the rice cultivar Manikpukha and the rice stem nematode Ditylenchus angustus has been reported recently. This research focuses on the underlying mechanisms of resistance in Manikpukha. Invasion, post-infection development and reproduction of D. angustus were compared in compatible and incompatible interactions to identify the stage in which resistance occurs. The results indicate that resistance in Manikpukha is associated with reduced development and reproduction, implying that resistance acts post-invasion. We studied the possible involvement of three classical defence hormones, salicylic acid (SA), jasmonic acid (JA) and ethylene (ET), in response to infection in a compatible interaction using biosynthesis/signalling-deficient transgenic rice lines. All three hormones appear to have an influence on the basal defence of Nipponbare against the stem nematode. Although hormone application increases basal defences, expression studies and hormone analyses after nematode infection in Manikpukha did not show a clear involvement of the hormone defense pathways for SA, ET and JA. However, it seems that OsPAL1 plays a pivotal role in resistance, indicating that the phenylpropanoid pathway and its products might be key players in the incompatible interaction. Lignin measurement showed that, although basal levels are similar, Manikpukha had a significantly higher lignin content on nematode infection, whereas it was decreased in the susceptible cultivar. The results presented here show that SA, ET and JA are involved in basal defences, but the resistance of Manikpukha against D. angustus probably relies on products of the phenylpropanoid pathway.
Sympatric occurrence of Culex pipiens (Diptera, Culicidae) biotypes pipiens, molestus and their hybrids in Portugal, Western Europe: feeding patterns and habitat determinants

Culex (Culex) pipiens (Diptera: Culicidae) has two recognized biotypes, pipiens and molestus, which differ in physiology and behaviour; this difference may influence vectorial capacity for West Nile virus (WNV). Our goal was first to determine the presence of Cx. pipiens populations in 31 locations in Portugal and to subsequently analyse their host‐feeding preferences and habitat determinants. Molecular identification of Cx. pipiens forms and their hybrids was performed in 97 females; bloodmeal sources were identified in 59 engorged specimens. Overall, 61.9% of specimens were identified as Cx. pipiens f. pipiens, 20.6% as Cx. pipiens f. molestus, and 17.5% as hybrid forms. Culex pipiens f. pipiens fed preferentially on birds, and Cx. pipiens f. molestus on humans. Hybrid forms fed mostly on birds, but human bloodmeals were common. With reference to habitat, Cx. pipiens f. pipiens and hybrid forms were positively correlated with peri‐urban habitats. Our results confirm the sympatric presence of different Cx. pipiens biotypes in 14 of the 31 locations studied. Peri‐urban areas were a common habitat of all biotypes and may represent zones of hybridization. The feeding preferences and sympatric distribution of the Cx. pipiens biotypes observed in Portugal favour the epizootic circulation of WNV and the occurrence of disease outbreaks of WNV.
Immunohistochemical characterization of human olfactory tissue

The pathophysiology underlying human olfactory disorders is poorly understood because biopsying the olfactory epithelium (OE) can be unrepresentative and extensive immunohistochemical analysis is lacking. Autopsy tissue enriches our grasp of normal and abnormal olfactory immunohistology and guides the sampling of the OE by biopsy. Furthermore, a comparison of the molecular phenotype of olfactory epithelial cells between rodents and humans will improve our ability to correlate human histopathology with olfactory dysfunction.
Antioxidant properties of Taraxacum officinale leaf extract are involved in the protective effect against hepatoxicity induced by acetaminophen in mice.

Acetaminophen (APAP) hepatotoxicity has been related to several cases of hepatitis, cirrhosis, and hepatic transplant. As APAP hepatotoxicity is related to reactive oxygen species (ROS) formation and excessive oxidative stress, natural antioxidant compounds have been tested as an alternative therapy to diminish the hepatic dysfunction induced by APAP. Taraxacum officinale Weber (Family Asteraceae), commonly known as dandelion, is used for medicinal purposes because of its choleretic, diuretic, antioxidant, anti-inflammatory, and hepatoprotective properties. This study evaluated the hepatoprotective activity of T. officinale leaf extract against APAP-induced hepatotoxicity. T. officinale was able to decrease thiobarbituric acid-reactive substance levels induced by 200 mg/kg APAP (p.o.), as well as prevent the decrease in sulfhydryl levels caused by APAP treatment. Furthermore, histopathological alterations, as well as the increased levels of serum aspartate and alanine aminotransferases caused by APAP, were prevented by T. officinale (0.1 and 0.5 mg/mL). In addition, T. officinale extract also demonstrated antioxidant activity in vitro, as well as scavenger activity against 2,2-diphenyl-1-picrylhydrazyl and nitric oxide radicals. Our results clearly demonstrate the hepatoprotective effect of T. officinale against the toxicity induced by APAP. The possible mechanisms involved include its scavenger activities against ROS and reactive nitrogen species, which are attributed to the content of phenolic compounds in the extract.
Evidence that clade A and clade B head lice live in sympatry and recombine in Algeria

Pediculus humanus L. (Psocodea: Pediculidae) can be characterized into three deeply divergent lineages (clades) based on mitochondrial DNA. Clade A consists of both head lice and clothing lice and is distributed worldwide. Clade B consists of head lice only and is mainly found in North and Central America, and in western Europe and Australia. Clade C, which consists only of head lice, is found in Ethiopia, Nepal and Senegal. Twenty‐six head lice collected from pupils at different elementary schools in two localities in Algiers (Algeria) were analysed using molecular methods for genotyping lice (cytochrome b and the multi‐spacer typing (MST) method. For the first time, we found clade B head lice in Africa living in sympatry with clade A head lice. The phylogenetic analysis of the concatenated sequences of these populations of head lice showed that clade A and clade B head lice had recombined, suggesting that interbreeding occurs when lice live in sympatry.
Antigen characterization from second instars of oestrid bot flies for the detection of anti‐Cephenemyia stimulator antibodies by ELISA in roe deer (Capreolus capreolus)

A study to determine the most appropriate antigen for use in the serodiagnosis of Cephenemyia (Diptera: Oestridae) infestation in roe deer (Capreolus capreolus) was carried out using immunoenzymatic tests. Serum samples from 43 roe deer from northern Spain were obtained post‐mortem and corresponding numbers of bot fly larvae established. Three antigen complexes were tested, including Cephenemyia stimulator Clark excretory/secretory antigens (CsES), C. stimulator somatic antigens (CsSA) and Oestrus ovis L. (Diptera: Oestridae) excretory/secretory antigens (OoES). In addition, the composition of each antigen was analysed using an electrophoresis system. Cephenemyia stimulator larvae were found in 25% of roe deer; the mean intensity of infection was 24.3 larvae per infested animal. In the antigen analysis, CsSA showed four exclusive bands of molecular weight (17–19, 62, 65 and 67–70 kDa). A positive correlation between immunoglobulin G (IgG) values and total number of larvae was found with CsES and CsSA. The highest sensitivity value, negative predictive value and negative likelihood ratio were obtained using CsES. The highest specificity value, positive likelihood ratio and kappa value were achieved with CsSA. The predictive values of the enzyme‐linked immunosorbent assay (ELISA) using CsES and CsSA reached statistical significance and seroprevalence values were 26–44%. The use of ELISA with CsES and CsSA seems promising in the non‐invasive diagnosis of Cephenemyia infestation in roe deer.
Cardiovascular risk in young women with Polycystic OvarySyndrome

Background: Young women with Polycystic Ovary Syndrome (PCOS) may have increased measures of cardiovascular risk. It is difficult to determine how much of this risk is due to PCOS itself and how much is due to obesity and insulin resistance,which are common in PCOS and are themselves associated with greater cardiovascular risk. Aims and Methods: The study aimed to determine if arterial stiffness, carotid intima-media thickness and diastolic dysfunction were increased in young women with PCOS independently of the effects of obesity. A cross-sectional study of women with PCOS and healthy volunteers aged 16-45 years was undertaken. Subjects had a comprehensive assessment of body composition (including computed tomography assessment of visceral fat), measurements of arterial stiffness (aortic pulse wave velocity; aPWV), common carotid intima-media thickness (ccIMT), diastolic function (longitudinal tissue velocity; e’:a’) and metabolic measures including an oral glucose tolerance test to assess insulin area under the curve (IAUC), a marker of insulin resistance. Results: After adjustment for age and body mass index, PCOS subjects had greater insulin response (IAUC) following glucose challenge (adjusted difference [AD] 35900 pmol min/l, P<0.001), higher testosterone (AD 0.57 nmol/l, P<0.001) and high molecular weight adiponectin (AD 3.01μg/ml, P=0.02) than controls. There were no significant differences in aPWV (AD -0.13m/s, P=0.33), ccIMT (AD - 0.01mm, P=0.13) or e’:a’ (AD -0.01, P=0.86). After adjustment for age, height and central pulse pressure, aPWV and e’:a’ were associated with log visceral fat and IAUC. After adjusting for log visceral fat, the relationships between aPWV or e’:a’ and IAUC were only party attenuated. There was no relationship between cardiovascular measures and adiponectin or testosterone. Conclusions: Insulin resistance and central obesity are associated with subclinical dysfunction in young women, but a diagnosis of PCOS does not appear to confer additional risk at this age.
Evaluation of the Implementation of PRISMA, a Coordination‐Type Integrated Service Delivery System for Frail Older People in Québec

PRISMA is the only example of a co‐ordinated‐type model to be developed and fully implemented with a process and outcome evaluation. The PRISMA model was implemented in three areas (urban, rural with or without a local hospital) in Quebec, Canada and an implementation evaluation was carried out using mixed (qualitative and quantitative) methods. Over four years, the implementation rates went from 22% to 79%. The perception of integration by managers and clinicians working in the various organisations of the network shows that most interactions are perceived as at the co‐operation level, some getting the highest collaboration level. The perception of the efficacy of case managers was very high. Implementing such a model is feasible, and the decision to generalise it was made in Quebec. This model might be more appropriate for a universal publicly funded health care system like those in Canada, the UK and the Scandinavian countries.
Growth and survival of blowfly Lucilia sericata larvae under simulated wound conditions: implications for maggot debridement therapy

Maggot debridement therapy has become a well‐established method of wound debridement. Despite its success, little information is available about the optimum duration of the treatment cycle and larval growth in wounds. This study examines the development of Lucilia sericata (Diptera: Calliphoridae) larvae under two containment conditions (bagged and free range) under simulated wound conditions and assesses the impact of transport and further storage of larvae on their survival and growth. There was no significant difference in size between bagged and free‐range larvae over the 72‐h experimental period. Larvae grew fastest 8–24 h after inoculation and completed their growth at 40–48 h. Mortality rates were similar (0.12–0.23% per hour) in both containment conditions and did not differ significantly (P = 0.3212). Survival of free‐range larvae was on average 16% lower than survival of bagged larvae. Refrigeration of larvae upon simulated delivery for > 1 day reduced their survival to < 50% and caused a reduction in growth of up to 30% at 12 h, but not at 48 h, of incubation. Therefore, it is recommended that free‐range larvae are left in the wound for a maximum of 40–48 h, and bagged larvae for 48–72 h. Larvae should be used within 24 h of delivery to avoid high mortality caused by prolonged refrigeration.
The dying of the light: crepuscular activity in Culicoides and impact on light trap efficacy at temperate latitudes

The light trap is the tool of choice for conducting large‐scale Culicoides (Diptera: Ceratopogonidae) vector surveillance programmes. Its efficacy is in doubt, however. To assess this, hourly changes in Culicoides activity over the 24‐h diel were determined comparatively by way of light trapping and aerial sweeping, and correlated against light intensity. In the Netherlands, sweeping around cattle at pasture revealed that, in early summer, Culicoides are active throughout the diel, and that their abundance peaks during the crepuscular period and falls to a low during the brightest hours of the day. By contrast, the light trap was able to accumulate Culicoides only at night (i.e. after illuminance levels had dropped to 0 lux and midge activity had begun to decline). Although Culicoides chiopterus and species of the Culicoides obsoletus complex were similarly abundant around livestock, they differed critically in their hours of peak activity, being largely diurnal and nocturnal, respectively. This polarity helps to explain why, routinely, the C. obsoletus complex dominates light trap collections and C. chiopterus does not. Inability to accumulate Culicoides at light intensity levels above 0 lux means that, at ever‐higher latitudes, particularly beyond 45° N, the progressive northward lengthening of the twilight period will have an increasingly adverse impact upon the efficacy of the light trap as a vector surveillance tool.
Optimization of beam parameters and iodine quantification in dual-energy contrast enhanced digital breast tomosynthesis

Dual-Energy Contrast Enhanced Digital Breast Tomosynthesis (DE CEDBT) is a promising technique for breast cancer detection, which combines the strengths of functional and 3D imaging. In the present study, we first focused on the optimization of the acquisition parameters for the low and high-energy projections, which leads to a trade-off between image quality in the recombined slices and the Average Glandular Dose (AGD) delivered to the patient. Optimized parameters were found and experimentally validated on phantom images. Then, we addressed the problem of iodine quantification in the recombined slices. In DE CEDBT, iodine quantification is limited by the z-resolution, due to the restricted angle acquisition inherent to tomosynthesis. We evaluated the lesion thickness above which determination of iodine volumetric concentration is possible. For lesions below this thickness, estimation of iodine concentration is possible if a priori information or a model on the shape of the lesion is available. Iodine quantification for lesions located near the breast boundary is also challenging, due to scatter border effects and variation of the breast thickness in this region. A scatter correction algorithm based on a deconvolution scheme and a thickness compensation algorithm were applied on the low and high-energy projections. Corrected images showed a more accurate quantification of iodine.
The neurodevelopmental outcome in infants who have sustained a subdural haemorrhage from non‐accidental head injury

Subdural haemorrhage (SDH) in infants arises most commonly from non-accidental head injury (NAHI) from shaking. Patients present with a varied severity of illness and a variety of symptoms and signs. Data on long-term outcome of the survivors are not widely reported. The aim of this paper is to describe the physical and educational outcomes of children <2 years diagnosed with non-accidental head injury and formulate guidelines on follow-up. Data on 65 children <2 years with non-accidental head injury and subdural haemorrhage diagnosed on CT/MRI/postmortem were extracted from the hospital and community notes and education reports. The Kings Outcome Scale for Childhood Head Injury (KOSCHI) was used. Sixteen children died (24.6%), 13 within 6 weeks and three 5 years after the injury. Of the 45 children followed up (follow-up time 21.7–103 months), 25 had a good outcome, six were moderately disabled and 11 were severely disabled, while three were in persistent vegetative state. Problems identiﬁed included cerebral palsy—16, ongoing seizures—5, visual problems—11, speech and language problems—17 and behavioural problems—13. Of the 29 children of school age on whom data were available, 12 children had a statement of educational needs. In conclusion, young children who survive non-accidental head injury can have signiﬁcant physical, cognitive and behavioural problems. Regular follow-up by a multidisciplinary team, which includes a community paediatrician, therapists, school health personnel and ophthalmologic services, until the child is established in school may facilitate early identiﬁcation of emerging problems and optimize management. Care must be taken not to discharge children with good outcomes, as behavioural and cognitive problems can emerge with time. Only a prospective study will help outline the subtle problems that can emerge with time in children with a so-called good outcome. Copyright © 2004 John Wiley & Sons, Ltd.
Sterilization of Hulecoeteomyia japonica japonica (= Aedes japonicus japonicus) (Theobald, 1901) by high‐energy photon irradiation: implications for a sterile insect technique approach in Europe

Hulecoeteomyia japonica japonica (= Aedes japonicus japonicus) (Diptera: Culicidae) (Theobald 1901), a container‐breeding invasive species in North America and Europe, is attracting particular attention for its high local abundances and possible roles in the transmission of human and animal pathogens. The preferential habitats of this species are forested and bushy areas, which renders control measures extremely inefficient. Use of the sterile insect technique (SIT) may contribute to the implementation of area‐wide integrated pest management strategies, as has been successfully proven with other aedine mosquito species. The present study investigates the effects of irradiation at a dose of 40 Gy on fitness parameters in H. j. japonica. Irradiation was performed on 16–24‐h‐old pupae from a colonized strain (PA) using a TrueBeam linear accelerator. Males from the PA strain were crossed with females of the same colony or with field‐collected females. Irradiation induced a slight increase in mortality in male pupae, but did not alter the survival and mating abilities of emerging adult males. Rates of blood feeding and fertility were lower when PA strain males were kept with field‐collected females rather than PA females. Irradiated males induced reductions in fertility (residual fertility: 2.6%) and fecundity in mated females. The data indicate that the SIT is a suitable technique to enhance the control of this species.