In praise of postgraduate career clinics: Translating health professionals' willingness to engagement.

AIM: To capture and retain healthcare staff in postgraduate courses relevant to individual career aspirations, service requirements and continuous practice development (CPD) within an English UK university. DESIGN: Two virtual career clinics for postgraduate practitioners to engage in CPD offers within the university. An online post-enrolment online survey to explore their experiences of engagement with the university. METHODS: Mixed: qualitative and quantitative methods. Engaging 10 participants attended the career clinics, and 42 participants with an online survey. RESULTS: The career clinics were well received by participants who mapped CPD requirements and individual career aspirations. The surveys exposed challenges with marketing and enrolment; however, these were mitigated with support. Four recommendations are presented within this paper applicable to the international postgraduate education of all health practitioners.

Investigating the Needs and Concerns of Lesbian, Gay, Bisexual, Transgender, Queer, or Questioning Cancer Patients.

The needs and concerns of lesbian, gay, bisexual, transgender, queer, or questioning (LGBTQ+) patients with cancer remain poorly understood. This is important as LGBTQ+ patients have an elevated risk of developing certain cancers and have poorer oncologic outcomes compared to non-LGBTQ+ patients. The lack of research may be linked to the complexity of studying the needs and concerns of this patient population. This review aimed to describe the evidence that sought to identify the needs and concerns of LGBTQ+ cancer patients. Studies were extracted using keywords such as "LGBTQ" and "Oncology." Patient participants were excluded if they did not identify as LGBTQ+ and if they did not have cancer or were not cancer survivors. Healthcare professionals were excluded if they were not oncology specific. A total of 22 studies met our inclusion criteria. LGBTQ+ cancer patients expressed concerns surrounding heteronormative assumptions made by healthcare professionals, a lack of LGBTQ±specific cancer support groups, and psychosexual concerns such as erectile dysfunction following cancer treatment. Oncology healthcare professionals lacked the knowledge and education that are required to manage this patient cohort. Further research is required to investigate the needs and concerns of LGBTQ+ cancer patients specifically in the radiation oncology setting.

Multi-qubit entanglement and algorithms on a neutral-atom quantum computer.

Gate-model quantum computers promise to solve currently intractable computational problems if they can be operated at scale with long coherence times and high-fidelity logic. Neutral-atom hyperfine qubits provide inherent scalability owing to their identical characteristics, long coherence times and ability to be trapped in dense, multidimensional arrays1. Combined with the strong entangling interactions provided by Rydberg states2-4, all the necessary characteristics for quantum computation are available. Here we demonstrate several quantum algorithms on a programmable gate-model neutral-atom quantum computer in an architecture based on individual addressing of single atoms with tightly focused optical beams scanned across a two-dimensional array of qubits. Preparation of entangled Greenberger-Horne-Zeilinger (GHZ) states5 with up to six qubits, quantum phase estimation for a chemistry problem6 and the quantum approximate optimization algorithm (QAOA)7 for the maximum cut (MaxCut) graph problem are demonstrated. These results highlight the emergent capability of neutral-atom qubit arrays for universal, programmable quantum computation, as well as preparation of non-classical states of use for quantum-enhanced sensing.

Taking therapeutic apheresis services to patients in South Africa: An eight year review of SANBS mobile therapeutic apheresis service, 2013-2020.

INTRODUCTION: A 20 year review of health and health care presents the multiple challenges faced by South Africans. Health and poverty is highlighted with 45% of population living on approximately US$ 2 per day and 10 million living on less than US$ 1 per day. Widening disparities in health care provision between public and private sector hospital services exist. The South African population includes the largest number of people living with HIV infection/AIDS of any country in the world, with a 70% estimate of 7.5 million people living with HIV on antiretroviral therapy. The South African National Blood Service provides a mixed model therapeutic apheresis service including mobile service and fixed-site therapeutic apheresis and an apheresis collection of hematopoietic stem cell (HPC-A) service. Therapeutic apheresis modalities offered by SANBS include plasmapheresis, red cell exchange, leukocyte and platelet reduction. In addition, collection of plasma, thrombocytes, mononuclear cells including CD34+ cells (HPCs) and granulocytes by apheresis for plasma and cellular therapies, and customised apheresis products for research purposes is offered. An operational database for the period 2013 to 2020 was reviewed to characterise the SANBS's mixed therapeutic apheresis service and HPC-A service from 2013 to 2020 in terms of patient numbers, patient demographics, patient procedures, therapeutic apheresis indication or diagnosis, therapeutic apheresis modality, hospital service type, and the American Society for Apheresis (ASFA) category of diagnosis. METHODS: A retrospective review of therapeutic apheresis patients referred to SANBS characterising patient numbers, patient demographics, patient procedures, therapeutic apheresis indication or diagnosis, therapeutic apheresis modality (Linz, 2017), hospital service type, and the ASFA category of diagnosis (Padmanabhan et al., 2019) for the period 01 January 2013 to 31 December 2020 was completed. Data is obtained from a SANBS operational routinely utilised to record patient procedure data. Patient procedure data is manually recorded by apheresis nurses and indexed on to the operational database, with both processes audited. The review period is a convenience sample. Storage of the database and access of the operational database is in compliance with the Protection of Personal Information Act (Government Gazette, 2013). Therapeutic apheresis modalities analysed include Plasmapheresis, Red Cell Exchange, Leukopheresis, Thrombocytapheresis, Lymphocyte collection, Granulocyte collection, Haematopoietic stem cell collection by apheresis and customised apheresis products for research purposes. Customised apheresis products for research purposes is excluded from this review. Descriptive statistics is used. RESULTS: For the review period, 2,485 unique patients with 120 unique indications as recorded by referring clinicians received 13,518 procedures involving 7 therapeutic apheresis modalities at 78 hospitals (21 public sector and 57 private sector) and at 3 SANBS blood donor centres in 7 provinces of South Africa. The age range of patients serviced is 4 months to 90 years (median = 39.5 years) (figure 1), 91% by procedure count was for patients 21 years of age or older, 62% were female, with 10,783 (79.6%) procedures performed in public sector hospitals. In all patients, the most common indications was plasmapheresis for thrombotic thromobocytopaenic purpura (52.5% of cumulative procedures), HPC-A for multiple myeloma (7.86%) and Antibody-mediated kidney transplant rejection (4.90%). Plasmapheresis was the most common therapeutic apheresis modality used (82.5% of cumulative procedures) followed by HPC-A (13.7%) and leukoreduction (3.39%). A range of indications for plasmapheresis (n = 65) and HPC-A (n = 41) were observed. Red cell exchange procedures was performed for patients with severe malaria and sickle cell disease indications. For leukoreduction indications, all patients were adults managed in public sector facilities and all were symptomatic. The most common indications were Chronic Myelogenous Leukemia, Chronic Lymphocytic Leukaemia and Multiple Myeloma. A pooled, total white cell count average of 457 × 109/L (range 141-689 × 109/L) prior to first procedure. Despite complex challenges for a national mixed model service, successful patient outcomes in emergent indications such as TTP (Louw et al., 2018; Swart et al., 2019) and engraftment post HPC-A in HSCT in multiple centres (Glatt, personal communication) are reported. CONCLUSION: The review confirms that apheresis medicine is increasingly used in South Africa in patients in both public and private sector, with the most common modalities being plasmapheresis, HPC-A and leukoreduction. Patients with HIV-associated TTP is the most commonly referred patient in both paediatric and adult patients and this is anticipated to continue. A growing HSCT transplant network capacity in South Africa is augmented through the mixed model mobile and fixed-site therapeutic apheresis services, including a mobile HPC-A service. The increasing number of HPC-A is a trend towards increasing numbers of patients support to HSCT for both adults and paediatric patients in private and public sector hospitals.

Is it safe to perform elective orthopaedic surgery with high community rates of COVID-19? An observational cohort study.

INTRODUCTION: During the first wave of the COVID-19 pandemic, University Hospitals Birmingham NHS Foundation trust was able to recommence elective orthopaedic surgery using private hospitals procured by the NHS as COVID-19 free 'green' sites. We report on the safety of elective orthopaedic surgery with high rates of community transmission. METHODS: We conducted an observational cohort study on consecutive NHS patients attending three private hospitals between 4 May 2020 and 16 June 2020. Patients attended preoperative assessment, including coronavirus disease (COVID-19) symptom screening, were instructed to self-isolate for 14 days and had a negative COVID-19 swab within 72 hours of surgery. Patient age, American Society of Anesthesiologists (ASA) grade, body mass index, surgery performed, type of anaesthetic and length of stay were collected. Our primary outcome was a positive COVID-19 swab, secondary outcomes were COVID-19 symptoms, readmission, surgical complications and mortality. RESULTS: Between 4 May 2020 and 16 June 2020, 191 patients were admitted to three private hospitals for elective surgery; 121 (67%) patients underwent general or regional anaesthetic, 179 patients were ASA grades 1 or 2 (94%) and 12 (6%) were ASA 3. In total, 187 (98%) patients were successfully contacted at 30 days postoperative and no COVID-19 symptoms, positive COVID-19 swabs or mortality or were recorded. One patient was readmitted following a pulmonary embolism and two patients were treated as outpatients for a deep vein thrombosis and a superficial infection. CONCLUSION: With 'green pathways' elective orthopaedic surgery can safely be performed while rates of COVID-19 in the community are high.

A Monte Carlo model of synchrotron radiotherapy shows good agreement with experimental dosimetry measurements: Data from the imaging and medical beamline at the Australian Synchrotron.

Experimental measurement of Synchrotron Radiotherapy (SyncRT) doses is challenging, especially for Microbeam Radiotherapy (MRT), which is characterised by very high dynamic ranges with spatial resolutions on the micrometer scale. Monte Carlo (MC) simulation is considered a gold standard for accurate dose calculation in radiotherapy, and is therefore routinely relied upon to produce verification data. We present a MC model for Australian Synchrotron's Imaging and Medical Beamline (IMBL), which is capable of generating accurate dosimetry data to inform and/or verify SyncRT experiments. Our MC model showed excellent agreement with dosimetric measurement for Synchrotron Broadbeam Radiotherapy (SBBR). Our MC model is also the first to achieve validation for MRT, using two methods of dosimetry, to within clinical tolerances of 5% for a 20×20 mm2 field size, except for surface measurements at 5 mm depth, which remained to within good agreement of 7.5%. Our experimental methodology has allowed us to control measurement uncertainties for MRT doses to within 5-6%, which has also not been previously achieved, and provides a confidence which until now has been lacking in MRT validation studies. The MC model is suitable for SyncRT dose calculation of clinically relevant field sizes at the IMBL, and can be extended to include medical beamlines at other Synchrotron facilities as well. The presented MC model will be used as a validation tool for treatment planning dose calculation algorithms, and is an important step towards veterinary SyncRT trials at the Australian Synchrotron.

Strategies to Improve Recruitment to a De-escalation Trial: A Mixed-Methods Study of the OPTIMA Prelim Trial in Early Breast Cancer.

AIMS: De-escalation trials are challenging and sometimes may fail due to poor recruitment. The OPTIMA Prelim randomised controlled trial (ISRCTN42400492) randomised patients with early stage breast cancer to chemotherapy versus 'test-directed' chemotherapy, with a possible outcome of no chemotherapy, which could confer less treatment relative to routine practice. Despite encountering challenges, OPTIMA Prelim reached its recruitment target ahead of schedule. This study reports the root causes of recruitment challenges and the strategies used to successfully overcome them. MATERIALS AND METHODS: A mixed-methods recruitment intervention (QuinteT Recruitment Intervention) was used to investigate the recruitment difficulties and feedback findings to inform interventions and optimise ongoing recruitment. Quantitative site-level recruitment data, audio-recorded recruitment appointments (n = 46), qualitative interviews (n = 22) with trialists/recruiting staff (oncologists/nurses) and patient-facing documentation were analysed using descriptive, thematic and conversation analyses. Findings were triangulated to inform a 'plan of action' to optimise recruitment. RESULTS: Despite best intentions, oncologists' routine practices complicated recruitment. Discomfort about deviating from the usual practice of recommending chemotherapy according to tumour clinicopathological features meant that not all eligible patients were approached. Audio-recorded recruitment appointments revealed how routine practices undermined recruitment. A tendency to justify chemotherapy provision before presenting the randomised controlled trial and subtly indicating that chemotherapy would be more/less beneficial undermined equipoise and made it difficult for patients to engage with OPTIMA Prelim. To tackle these challenges, individual and group recruiter feedback focussed on communication issues and vignettes of eligible patients were discussed to address discomforts around approaching patients. 'Tips' documents concerning structuring discussions and conveying equipoise were disseminated across sites, together with revisions to the Patient Information Sheet. CONCLUSIONS: This is the first study illuminating the tension between oncologists' routine practices and recruitment to de-escalation trials. Although time and resources are required, these challenges can be addressed through specific feedback and training as the trial is underway.

Sensory perception testing by monofilaments in the digits of controls and workers with HAVS.

OBJECTIVE: To determine if heavy manual work affects sensory perception in the digits and whether Semmes-Weinstein monofilaments (SWM) can be used as a screening tool to detect sensory neuropathy in the digits of workers exposed to hand-transmitted vibration (HTV). METHODS: A cross-sectional study of office workers, heavy manual workers not exposed to HTV and workers with hand-arm vibration syndrome (HAVS). Sensory perception was measured in the digits by SWM using a forced-choice method to determine variability by sex, age, hand and digit. Frequency distributions were used to determine limit values and linear weighted kappa for intra-digit variability. Poisson regression was used to explore the relationship between sensory perception by SWM and abnormalities of thermal and vibration perception in the hands of workers with HAVS. RESULTS: The sensory perception threshold of office workers did not vary by hand or digit. It was significantly lower in women < 30 than women aged ≥ 30 years. The 95th percentile for heavy manual workers was 1.00 (95% CI 0.60-1.00) and significantly higher than for office workers at 0.16 (95% CI 0.16-0.16). Heavy manual workers > 50 years had the highest threshold at 1.40 (95% CI 1.00-2.00). Weighted kappa for reliability was 0.63 (95% CI 0.53-0.70). A mean SWM threshold of ≥ 1.0 gram-force had a 79% sensitivity and 64% specificity for detecting abnormalities of thermal and vibration perception in the ipsilateral index and little fingers of workers with HAVS. CONCLUSIONS: SWM are a useful screening tool for detecting sensory loss in the digits of workers exposed to HTV.

Challenges and impact of patient obesity in radiation therapy practice.

INTRODUCTION: The prevalence of obesity is rapidly increasing globally and has tripled between 1975 and 2016. Obesity is reported within the literature as having a significant impact on medical practice, professionals, imaging departments and healthcare systems. It is not known how this epidemic will impact radiation therapists' working environment and practice. The aim of this study is to explore the perceived challenges and impacts of patient obesity on radiation therapy practice from the perception of radiation therapists. METHODS: All radiation therapists working in the Republic of Ireland were invited to participate. Two focus groups were conducted with 6 and 7 participants respectively. A seven staged method of analysis, using a computerised long table approach was developed and used to analyse the data and create themes related to radiation therapists' perception of managing obese patients. RESULTS: Perceived challenges from the radiation therapists were difficulties; (1) Setting up the patient (2) Imaging (3) communication and emotional impact. CONCLUSION: An array of concerns were raised during this research about the increase and impact of obese patients on radiation therapists working environment. This study suggests that obese patients can present additional challenges to radiation therapists' current work practices. It is imperative that we recognise the additional challenges this patient cohort add to daily workflow. Further research is needed to identify the common key issues and how to manage this specific patient group. IMPLICATIONS FOR PRACTICE: At the moment there are no specific management strategies/policies in place for managing obese patients; this study suggests that it is something we need to consider implementing as standard in radiation therapy departments.

Towards the future of blood transfusion - the South African National Blood Service's perspectives on cellular therapeutic services and products.

Blood transfusion services are the cornerstone of the healthcare delivery system, and need to stay abreast of advances in technology to ensure relevance to the needs of the country. In this review, we examine the current status of blood transfusion systems and discuss their possible future role in cellular therapies.

Weyl Consistency Conditions and γ_{5}.

The treatment of γ_{5} in dimensional regularization leads to ambiguities in field-theoretic calculations, of which one example is the coefficient of a particular term in the four-loop gauge beta functions of the standard model. Using Weyl consistency conditions, we present a scheme-independent relation between the coefficient of this term and a corresponding term in the three-loop Yukawa beta functions, where a semi-naïve treatment of γ_{5} is sufficient, thereby fixing this ambiguity. We briefly outline an argument by which the same method fixes similar ambiguities at higher orders.

In Silico Identification of Novel Biomarkers and Development of New Rapid Diagnostic Tests for the Filarial Parasites Mansonella perstans and Mansonella ozzardi.

Mansonelliasis is a widespread yet neglected tropical infection of humans in Africa and South America caused by the filarial nematodes, Mansonella perstans, M. ozzardi, M. rodhaini and M. streptocerca. Clinical symptoms are non-distinct and diagnosis mainly relies on the detection of microfilariae in skin or blood. Species-specific DNA repeat sequences have been used as highly sensitive biomarkers for filarial nematodes. We have developed a bioinformatic pipeline to mine Illumina reads obtained from sequencing M. perstans and M. ozzardi genomic DNA for new repeat biomarker candidates which were used to develop loop-mediated isothermal amplification (LAMP) diagnostic tests. The M. perstans assay based on the Mp419 repeat has a limit of detection of 0.1 pg, equivalent of 1/1000th of a microfilaria, while the M. ozzardi assay based on the Mo2 repeat can detect as little as 0.01 pg. Both LAMP tests possess remarkable species-specificity as they did not amplify non-target DNAs from closely related filarial species, human or vectors. We show that both assays perform successfully on infected human samples. Additionally, we demonstrate the suitability of Mp419 to detect M. perstans infection in Culicoides midges. These new tools are field deployable and suitable for the surveillance of these understudied filarial infections.

International consensus criteria for diagnosing and staging hand-arm vibration syndrome.

PURPOSE: In the 30 years since the Stockholm Workshop Scale (SWS) was published, the scientific literature on hand-arm vibration syndrome (HAVS) has grown and experience has been gained in its practical application. This research was undertaken to develop an up-to-date evidence-based classification for HAVS by seeking consensus between experts in the field. METHODS: Seven occupational physicians who are clinically active and have had work published on HAVS in the last 10 years were asked to independently take part in a three-round iterative Delphi process. Consensus was taken when 5/7 (72%) agreed with a particular statement. Experts were asked to provide evidence from the literature or data from their own research to support their views. RESULTS: Consensus was achieved for most of the questions that were used to develop an updated staging system for HAVS. The vascular and neurological components from the SWS are retained, but ambiguous descriptors and tests without adequately developed methodology such as tactile discrimination, or discriminating power such as grip strength, are not included in the new staging system. A blanching score taken from photographs of the hands during vasospastic episodes is recommended in place of self-recall and frequency of attacks to stage vascular HAVS. Methods with the best evidence base are described for assessing sensory perception and dexterity. CONCLUSIONS: A new classification has been developed with three stages for the clinical classification of vascular and neurological HAVS based on international consensus. We recommend it replaces the SWS for clinical and research purposes.

Quench, Normal Zone Propagation Velocity, and the Development of an Active Protection Scheme for a Conduction Cooled, R&W, MgB2 MRI Coil Segment.

The development of coils that can survive a quench is crucial for demonstrating the viability of MgB2-based main magnet coils used in MRI systems. Here we have studied the performance and quench properties of a large (outer diameter: 901 mm; winding pack: 44 mm thick × 50.6 mm high) conduction-cooled, react-and-wind (R&W), MgB2 superconducting coil. Minimum quench energy (MQE) values were measured at several coil operating currents (I op ), and distinguished from the minimum energy needed to generate a normal zone (MGE). During these measurements, normal zone propagation velocities (NZPV) were also determined using multiple voltage taps placed around the heater zone. The conduction cooled coil obtained a critical current (I c ) of 186 A at 15 K. As the operating currents (I op ) varied from 80 A to 175 A, MQE ranged from 152 J to 10 J, and NZPV increased from 1.3 to 5.5 cm/s. Two kinds of heater were involved in this study: (1) a localized heater ("test heater") used to initiate the quench, and (2) a larger "protection heater" used to protect the coil by distributing the normal zone after a quench was detected. The protection heater was placed on the outside surface of the coil winding. The test heater was also placed on the outside surface of the coil at a small opening made in the protection heater. As part of this work, we also developed and tested an active protection scheme for the coil. Such active protection schemes are of great interest for MgB2-based MRIs because they permit exploitation of the relatively large MQE values of MgB2 to enable the use of higher J e values which in turn lead to competitive MgB2 MRI designs. Finally, the ability to use a quench detection voltage to fire a protection heater as part of an active protection scheme was also demonstrated.

Towards the future of blood transfusion ­ the South African national blood service's perspectives on cellular therapeutic services and products

Blood transfusion services are the cornerstone of the healthcare delivery system, and need to stay abreast of advances in technology to ensure relevance to the needs of the country. In this review, we examine the current status of blood transfusion systems and discuss their possible future role in cellular therapies

Systematic Review: Occupational illness in the waste and recycling sector.

BACKGROUND: The waste and recycling sector is a growing part of industry. Whether health surveillance is indicated and how it should be undertaken is unclear. AIMS: To undertake a review of the literature to identify hazards to health, biological effects and occupational illnesses for workers in the sector. METHODS: A systematic review of the published literature and two UK databases. RESULTS: Rates of fatal, non-fatal injuries and self-reported work-related illness were found to be higher in the waste and recycling sector than in UK industry as a whole. There was an increased prevalence of respiratory, gastro-intestinal and skin complaints in workers exposed to compost relative to controls. They may also be at increased risk of extrinsic allergic alveolitis, allergic bronchopulmonary aspergillosis, occupational asthma and abnormalities of lung function. Workers involved with the recycling of batteries and cables may be at risk of lead poisoning and exposure to other heavy metals. There were case reports of mercury poisoning from the recycling of fluorescent lights. Cases of occupational asthma have been reported in association with wood and paper recycling. The recycling of e-waste may cause exposure to heavy metals and organic pollutants, such as polybrominated diphenyl ethers, dioxins and polyaromatic hydrocarbons, which have been associated with damage to DNA and adverse neonatal outcomes. CONCLUSIONS: Ill-health and adverse biological effects have been described in waste and recycling workers, but their true prevalence has probably not been captured. Targeted health surveillance may be required to assess exposure and to identify occupational illness.

A nationwide investigation of radiation therapy event reporting-and-learning systems: Can standards be improved?

INTRODUCTION: Variation exists between event reporting-and-learning systems utilised in radiation therapy. Due to the impact of errors associated with this field of medicine, evidence-based and rigorous systems are imperative. The implementation of such systems facilitates the reactive enhancement of patient safety following an event. The purpose of this study was to evaluate Irish event reporting-and-learning procedures against the current literature using a developed evidence-based process map, and to propose recommendations as to how the national standard could be improved. METHODS: Radiation Therapy Service Managers of all Irish radiation therapy institutions (n = 12) were invited to participate in an anonymous online questionnaire. Included in the questionnaire was a reporting-and-learning process map developed from evidence-based literature, which was used to assess the institution's practice through the use of vignettes. Frequency analysis of closed-ended questions and thematic analysis of open-ended questions was performed to assess the data. RESULTS: A 91.7% response rate was achieved. The following areas were found to have the most variation with the evidence-based process map: event classification, external reporting, and dissemination of lessons-learned to a wider audience. Recommendations to standardise practice were made. CONCLUSION: Opportunities for improvement exist within event reporting-and-learning systems of Irish radiation therapy institutions and recommendations have been made on these. These findings can provide learning for other countries with similar reporting systems.

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence. In contrast to primary cilia of relatively consistent length and morphology in unaffected kidney cells, those of affected cyst-lining cells displayed a range of short and extremely long cilia, as well as abnormal morphologies, such as bulbous regions along the axoneme. Putative cilia fragments were also consistently located within the cyst luminal contents. The abnormal ciliary phenotype was further confirmed in cultured interstitial fibroblasts from affected kidneys. These primary cilia dysmorphologies and length control defects were significantly greater in affected cells compared to unaffected controls. In conclusion, we describe abnormalities involving primary cilia length and morphology in the first reported example of a large animal model of MKS, in which we have identified TMEM67 mutations.