Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 transcript preferentially expressed from the maternal allele, and the paternally expressed XLas, A/B and antisense transcripts. PHP1b can be caused by loss of imprinting affecting GNAS A/B alone (associated with STX16 deletion), or the entire GNAS cluster (associated with deletions of NESP55 in a minority of cases). We performed targeted genomic next-generation sequencing (NGS) of the GNAS cluster to seek variants and indels underlying PHP1b. Seven patients were sequenced by hybridisation-based capture and fourteen more by long-range PCR and transposon-mediated insertion and sequencing. A bioinformatic pipeline was developed for variant and indel detection. In one family with two affected siblings, and in a second family with a single affected individual, we detected maternally inherited deletions of 40 and 33 bp, respectively, within the deletion previously reported in rare families with PHP1b. All three affected individuals presented with atypically severe PHP1b; interestingly, the unaffected mother in one family had the detected deletion on her maternally inherited allele. Targeted NGS can reveal sequence changes undetectable by current diagnostic methods. Identification of genetic mutations underlying epigenetic changes can facilitate accurate diagnosis and counselling, and potentially highlight genetic elements critical for normal imprint settin

Lesbian, Gay, Bisexual, and Transgender (LGBT) Issues in Dental School Environments: Dental Student Leaders’ Perceptions

The objectives of the study reported in this article were to assess dental student leaders’ perceptions of educational efforts concerning lesbian, gay, bisexual, and transgender (LGBT) topics and the cultural climate concerning LGBT issues in dental schools in the United States and Canada. In addition, the perceptions of student leaders who self‐identified as belonging to the LGBT community and of students with a heterosexual orientation were compared. Data were collected from 113 dental student leaders from twenty‐seven dental schools in the United States and three in Canada. Fifty student leaders were females, and sixty‐two were males. Only 13.3 percent of the respondents agreed that their dental education prepared them well to treat patients from LGBT backgrounds. The more the student leaders believed that their university has an honest interest in diversity, the better they felt prepared by their dental school program to treat patients from LGBT backgrounds (r=.327; p<.001). The better they felt prepared, the more they perceived the clinic environment as sensitive and affirming for patients with different sexual orientations (r=.464; p<.001). The more they reported that dental schools’ administrations create a positive environment for students with LGBT orientations, the more they agreed that persons can feel comfortable regardless of their sexual orientation (r=.585; p<.001). In conclusion, the findings indicate that dental school administrators play an important role in ensuring that future care providers are well prepared to treat patients from LGBT backgrounds and that staff, faculty, students, and patients from these backgrounds are not discriminated against.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/153661/1/jddj002203372009731tb04643x.pd

International Public Health Research Involving Interpreters: a Case Study from Bangladesh

Background: Cross-cultural and international research are important components of public health research, but the challenges of language barriers and working with interpreters are often overlooked, particularly in the case of qualitative research. Methods: A case-study approach was used to explore experiences of working with an interpreter in Bangladesh as part of a research project investigating women's experiences of emergency obstetric care. The case study: Data from the researcher's field notes provided evidence of experiences in working with an interpreter and show how the model of interviewing was adapted over time to give a more active role to the interpreter. The advantages of a more active role were increased rapport and "flow" in interviews. The disadvantages included reduced control from the researcher's perspective. Some tensions between the researcher and interpreter remained hard to overcome, irrespective of the model used. Independent transcription and translation of the interviews also raised questions around accuracy in translation. Conclusion: The issues examined in this case study have broader implications for public health research. Further work is needed in three areas: 1) developing effective relationships with interpreters; 2) the impact of the interpreter on the research process; and 3) the accuracy of the translation and level of analysis needed in any specific public health research. Finally, this paper highlights the importance to authors of reflecting on the potential impact of translation and interpretation on the research process when disseminating their research

Animal welfare assessment on intensive and extensive pig farms

L'objectiu d'aquesta tesi és avaluar i discutir l'aplicació pràctica, la validesa i la repetibilitat d'un sistema d'avaluació del benestar en granges comercials de porcs d'engreix. La capacitat d'aplicació, la sensibilitat, selectivitat, validesa contextual i repetibilitat al llarg del temps de les mesures basades en l'animal incloses al protocol Welfare Quality® es van avaluar mitjançant cinc estudis. A més a més, al llarg de la tesi es va considerar la utilització del protocol com a eina d'assessorament per resoldre problemes de benestar. En el primer estudi es presenta una anàlisi descriptiva de les mesures basades en l'animal incloses al protocol d'avaluació del benestar. En aquest treball es va avaluar tant l'aplicació pràctica del protocol en 30 granges intensives com la seva capacitat per discriminar-les entre sí. Tanmateix, el treball proposa una metodologia pràctica per identificar granges que presenten algun problema de benestar. Al segon i tercer estudi, es van avaluar un total de 11,647 porcs allotjats en 91 explotacions comercials provinents de tres sistemes intensius (convencional a França i Espanya, sobre palla a França, i Ibèric intensiu a Espanya) així com dos sistemes extensius (Ibèric en extensiu, Porc Negre Mallorquí) mitjançant el protocol Welfare Quality®. Tot dos estudis descriuen dades sobre la prevalença i distribució de diversos indicadors de benestar en una gran varietat d'explotacions amb la finalitat d'identificar una sèrie de factors causals. Els resultats corresponents als principis de bona alimentació i bon allotjament es presenten en el segon estudi mentre que els de salut es descriuen en el tercer. El quart estudi es centra en l'avaluació del benestar mitjançant mesures de comportament en porcs Ibèrics en condicions intensives i extensives. En aquest treball, el quart principi del Welfare Quality®, titulat "comportament adequat", es va avaluar en 21 granges (11 extensives i 10 intensives), les quals allotjaven una totalitat de 25,856 porcs Ibèrics. Finalment, el cinquè estudi avalua, en una mostra de 15 granges intensives convencionals, la repetibilitat després d'un temps perllongat de les mesures basades en l'animal incloses en el protocol Welfare Quality®. Els resultats es van discutir des d'un punt de vista discriminatiu i avaluatiu. Com a comentari general, el protocol Welfare Quality® per porcs d'engreix es pot aplicar fàcilment en una gran varietat d'explotacions comercials. Tot i així, la durada total del protocol pot ser percebuda com a massa llarga per part d'alguns dels agents implicats (com ara ramaders, industria o empreses certificadores). La sensibilitat dels indicadors de salut és aparentment massa baixa. La interpretació d'alguns resultats en termes de benestar animal, especialment els de comportament, s'ha de realitzar amb molta cura sobretot quan es comparen explotacions provinents de sistemes de cria molt diversos. Una interpretació equivocada d'un resultat pot erròniament afavorir o perjudicar un ramader o un sistema. Finalment, el protocol Welfare Quality® pot tenir enfocaments diversos que poden ser pràctics i complementaris com a eina d'assessorament, tot i que es va dissenyar com una eina per auditar.The objective of the present thesis is to evaluate and discuss the feasibility, validity and repeatability of a welfare assessment system for growing pigs on commercial farms. The feasibility, sensitivity, selectivity, contextual validity and repeatability over time of several animal-based measures of the Welfare Quality® (WQ®) protocol were evaluated in five studies. Furthermore, across the thesis, the use of the protocol as an advisory tool is considered. The first study presents a descriptive analysis of several animal-based measures of the welfare assessment protocol for pigs kept under intensive conventional conditions on 30 farms in Spain. It evaluates the feasibility of the protocol on intensive farms and its capacity to discriminate among intensive conventional farms. It also aims to propose a practical methodology to identify farms with a particular welfare problem. On the second and third studies, a total of 11,647 pigs housed on 91 commercial farms of three intensive systems (conventional in France and Spain, straw bedded in France, and Iberian intensive in Spain) as well as two extensive systems (Iberian extensive, Mallorcan Black pig) were assessed applying the overall WQ® protocol. Both studies yielded data about the prevalence and distribution of several welfare outcomes on a wide variety of commercial farms with the aim to identify possible causal factors. The results from the good feeding and housing principles are presented in the second study whereas those of health are given in the third study. The fourth study focused on the assessment of welfare through behavioural measures in Iberian pigs in intensive and extensive conditions. The fourth principle of the WQ® protocol, labelled "Appropriate behaviour", was assessed on 21 farms (11 extensive and 10 intensive) housing a total of 25,856 Iberian pigs. Changes in occurrence of behaviour and qualitative measures were evaluated and discussed when comparing Iberian pigs either in intensive or extensive rearing conditions. Finally, the fifth study evaluated the test-retest repeatability over a long period of time of the mean prevalence of several measures from the WQ® protocol on a sample of 15 intensive conventional farms of growing pigs. The results were discussed from a discriminative approach and from an evaluative approach. As a general comment, the WQ® protocol for growing pigs is feasible in a wide range of commercial conditions even though the overall duration may be perceived as too long by stakeholders. The sensitivity of health indicators appears to be low. Interpretation of several outcomes, especially behavioural ones, in terms of animal welfare, must be cautious, especially when comparing farm units from diverse rearing systems. An erroneous interpretation of an outcome can wrongly favour or prejudice a farmer. Several approaches of the WQ® protocol can be practical and complementary to be used for advisory purposes

Exploring the campaign space of non-party activism in the 2017 and 2019 UK general elections

In recent years there has been an increase in election-focused activity undertaken by non-party organisations. This activism concerns issues such as political education, cross-party collaboration, voter registration, and voter advice. Using the 2017 and 2019 UK general elections as case studies, we take a strategic action field approach to analyse how this campaign space is developing. We demonstrate the existence of competing logics of activism associated with the fields of social movements, electioneering, and ‘civic tech’. This leads to conflicts related to ethos, time, organisational hybridity, activism, funding and regulation, with such issues frequently shaped by the affordances offered by digital technology. Our findings contribute towards better understandings of how these actors operate in, and attempt to influence, the contemporary electoral landscape

Imaging characteristics and treatment of a penetrating brain injury caused by an oropharyngeal foreign body in a dog

A 4-year-old Border collie was presented with one episode of collapse, altered mentation, and a suspected pharyngeal stick injury. Magnetic resonance imaging (MRI) and computed tomography showed a linear foreign body penetrating the right oropharynx, through the foramen ovale and the brain parenchyma. The foreign body was surgically removed and medical treatment initiated. Complete resolution of clinical signs was noted at recheck 8 weeks later. Repeat MRI showed chronic secondary changes in the brain parenchyma. To the authors' knowledge, this is the first report of the advanced imaging findings and successful treatment of a penetrating oropharyngeal intracranial foreign body in a dog