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BMC medical ethics 22(1), 161 (2021). doi:10.1186/s12910-021-00730-3, Published by BioMed Central, London

Genetic testing is controversial in adoption with professionals taking different positions on whether children should be protected from genetic information or whether it can be used to assist adoption. In this article, we argue that advances in ‘genome-wide’ testing add further complications to these debates. Although next-generation sequencing (NGS) and microarray-based technologies can offer high-quality molecular diagnoses for a variety of conditions, they also increase the burden of interpretation. For these reasons, adoption professionals will need to understand the relevance and complexity of biomedical information. Our study explores the accounts of social workers’ and medical advisors’ knowledge and reasoning about genetic testing in adoption. Twenty participants, including social workers, managers, medical advisors and paediatricians, were recruited from adoption services in England and Wales. A key finding revealed that medical professionals reported increasing pressure to test children prior to adoption, whilst social workers justified testing on the basis that it reduced uncertainty and therefore assisted adoption. Professionals’ accounts of genetic testing suggest that social workers may not be aware of the potential indeterminacy of microarray and NGS technologies. This has important implications for adoption because increases in genomic uncertainty can stigmatise children and disadvantage their prospects for adoption.

Breast reconstruction remains an important field in plastic surgery, with most procedures using implants and/or autologous tissue. Few series report on experience with fat grafting as the primary form of breast reconstruction. The present article describes a new method of breast reconstruction using a three-dimensional absorbable mesh construct-or Lotus scaffold-and autologous fat grafting. A retrospective review was performed for all patients who underwent breast reconstruction using the Lotus scaffold and autologous fat grafting. Postoperative mammograms and magnetic resonance imaging scans were analyzed. Tissue specimens collected at subsequent procedures were harvested and stained with hematoxylin and eosin for histologic evaluation. Lastly, compression testing of the scaffold was performed using a tensiometer and digital tracking technology. Twenty-two patients underwent reconstruction of 28 breasts using the Lotus scaffold and autologous fat grafting between February of 2015 and February of 2018. Average follow-up was 19 months. All patients were satisfied with final breast shape and size. Mean patient age was 60.5 years and the average body mass index was 28 kg/m. Patients required on average two fat grafting sessions to achieve a successful result (range, zero to four). Postoperative mammography and magnetic resonance imaging showed robust adipose tissue in the breast with a slowly resorbing mesh and no oil cysts or calcifications. Histologic evaluation showed the presence of fat tissue around the scaffold and no evidence of capsule formation. Compression testing revealed the Lotus scaffold to be compliant with a high-resilience profile. The Lotus scaffold with autologous fat grafting is a viable method for breast reconstruction, giving the patient an autologous reconstruction with less morbidity compared to free tissue transfer. CLINICAL QUESTION/LEVEL OF EVIDENCE:: Therapeutic, IV.

In X-linked hypohidrotic ectodermal dysplasia, the most frequent ectodermal dysplasia, an inherited deficiency of the signalling protein ectodysplasin A1 (EDA1) impairs the development of the skin and its appendages, various eccrine glands, and dentition. The severe hypohidrosis common to X-linked hypohidrotic ectodermal dysplasia patients may lead to life-threatening hyperthermia, especially during hot weather or febrile illness. Fc-EDA, an EDA1 replacement protein known to prevent the disease in newborn animals, was tested in 2 clinical trials (human adults and neonates) and additionally administered under compassionate use to 3 infants in utero. The data support the safety of Fc-EDA and efficacy if applied prenatally. Anti-drug antibodies were detected after intravenous administration in adult males and nonpregnant females, but not in pregnant women when Fc-EDA was delivered intra-amniotically. Most importantly, there was no detectable immune response to the investigational drug in neonates treated by intravenous infusions and in infants who had received Fc-EDA in utero. In conclusion, the safety profile of this drug encourages further development of prenatal EDA1 replacement therapy.

Dementia is a collective term for a range of conditions that lead to a progressive deterioration in cognitive function. Together they are a major cause of disability, and it is estimated that 10 000 000 new cases are diagnosed every year, worldwide. Studies suggest that 1-in-20 individuals develop symptoms below the age of 65 years. Although non-genetic causes must be considered, a young age of onset or a strong family history could be due to the presence of a particularly strong genetic factor; a highly penetrant pathogenic variant. This article aims to provide GPs with an introduction to inherited forms of adult-onset dementia, their presenting features and clues to look out for in the family history.

T1D accounts for 10% of all diabetes and DKA accounts for 8.1 per 1,000 hospitalizations. Glycemic outcomes have not been reported for adults with specifically T1D. We describe hospital glycemic outcomes for patients with T1D with and without DKA. Individual-level data from the Glytec Inpatient Database was examined for glycemic outcomes based on pre-specified target blood glucose (BG) ranges (Table 1). All patients were treated with Glucommander IV. Data was extracted from 154 hospitals located in 17 different states in the United States (2015-2020). T1D was determined based on ICD E10.XX. The DKA group (n=4592) included patients with age > 18 years met criteria for DKA: bicarbonate 250 mg/dl, and anion gap >12 mEq/L. The non DKA group (n=10,886) included patients who did not meet the DKA criteria. Prevalence of hypoglycemia and time to target (TTT) BG were stratified by target BG ranges. In patients with DKA, % BG This largest descriptive analysis of adult T1D patients with DKA and without DKA showed that Glucommander IV can safely get patients into prespecified target range, with minimal rates of hypoglycemia. Disclosure J. Messler: Employee; Self; Glytec, LLC. P. Vellanki: Consultant; Self; Boehringer Ingelheim Pharmaceuticals, Inc. B. W. Bode: Advisory Panel; Self; Eli Lilly and Company, Consultant; Self; Bigfoot Biomedical, Inc., Companion Medical, Lexicon Pharmaceuticals, Inc., Medtronic, Novo Nordisk Inc., Zealand Pharma A/S, Research Support; Self; Abvance Therapeutics, Dexcom, Inc., Diasome Pharmaceuticals, Inc., Dompe, Eli Lilly and Company, Eyenuk, Inc., Insulet Corporation, Jaeb Center for Health Research, Medtronic, Nova Biomedical, Novo Nordisk, Provention Bio, Inc., REMD Biotherapeutics, Sanofi, Senseonics, Viacyte, Inc., vTv Therapeutics, Xeris Pharmaceuticals, Inc., Speaker’s Bureau; Self; AstraZeneca, Boehringer Ingelheim Pharmaceuticals, Inc., Eli Lilly and Company, MannKind Corporation, Medtronic, Novo Nordisk, Sanofi, Stock/Shareholder; Self; AgaMatrix, Aseko, Inc., Glytec, LLC. R. Booth: Employee; Self; Glytec, LLC. J. Clarke: Employee; Self; Aseko, Inc., Stock/Shareholder; Self; Aseko, Inc.

Hyperglycemia (BG>140 mg/dl) and hypoglycemia (BG 180 mg/dl. All patients were on an eGMS to titrate IV insulin and followed Glucommander IV order set initiation recommendations for renal failure. The results were compared to published data from other eGMS. See Table for complete results. Conclusions: When using Glucommander proprietary nonlinear IV insulin infusion software and an appropriate order set, renal impaired patients had low hypoglycemia rates and acceptable glycemic control. There were few large comparator studies, all with higher hypoglycemic rates and none of which reported outcomes in patients with renal impairment. Disclosure B. W. Bode: Advisory Panel; Self; Eli Lilly and Company, Consultant; Self; Bigfoot Biomedical, Inc., Companion Medical, Lexicon Pharmaceuticals, Inc., Medtronic, Novo Nordisk Inc., Zealand Pharma A/S, Research Support; Self; Abvance Therapeutics, Dexcom, Inc., Diasome Pharmaceuticals, Inc., Dompe, Eli Lilly and Company, Eyenuk, Inc., Insulet Corporation, Jaeb Center for Health Research, Medtronic, Nova Biomedical, Novo Nordisk, Provention Bio, Inc., REMD Biotherapeutics, Sanofi, Senseonics, Viacyte, Inc., vTv Therapeutics, Xeris Pharmaceuticals, Inc., Speaker’s Bureau; Self; AstraZeneca, Boehringer Ingelheim Pharmaceuticals, Inc., Eli Lilly and Company, MannKind Corporation, Medtronic, Novo Nordisk, Sanofi, Stock/Shareholder; Self; AgaMatrix, Aseko, Inc., Glytec, LLC. J. Clarke: Employee; Self; Aseko, Inc., Stock/Shareholder; Self; Aseko, Inc. J. Messler: Employee; Self; Glytec, LLC. R. Booth: Employee; Self; Glytec, LLC.

Marijuana may be used by some patients with gastroparesis (Gp) for its potential antiemetic, orexigenic, and pain-relieving effects. The aim of this study was to describe the use of marijuana by patients for symptoms of Gp, assessing prevalence of use, patient characteristics, and patients’ perceived benefit on their symptoms of Gp. Patients with symptoms of Gp underwent history and physical examination, gastric emptying scintigraphy, and questionnaires assessing symptoms. Patients were asked about the current use of medications and alternative medications including marijuana. Fifty-nine of 506 (11.7%) patients with symptoms of Gp reported current marijuana use, being similar among patients with delayed and normal gastric emptying and similar in idiopathic and diabetic patients. Patients using marijuana were younger, more often current tobacco smokers, less likely to be a college graduate, married or have income > $50,000. Patients using marijuana had higher nausea/vomiting subscore (2.7 vs 2.1; p = 0.002), higher upper abdominal pain subscore (3.5 vs 2.9; p = 0.003), more likely to be using promethazine (37 vs 25%; p = 0.05) and dronabinol (17 vs 3%; p

Pemphigus vulgaris (PV) is a rare autoimmune blistering disease involving the skin and mucous membranes. The prevalence of esophageal involvement remains uncertain. The aim of our study was to determine the frequency of esophageal involvement in patients with PV. This is a single-center electronic database retrospective review of patients with a diagnosis of PV. Data abstracted included demographics, disease characteristics (biopsy results, symptoms, areas affected, treatments), and esophagogastroduodenoscopy (EGD) reports. Of the 111 patients that met eligibility criteria, only 22 (19.8%) underwent EGD. Demographic data were similar except those who underwent EGD were more likely to be female (77.3% vs. 51.7%, p = 0.05) and have hypertension (50.0% vs. 24.7%, p = 0.04). Esophageal symptoms were common in both groups; however, those experiencing dysphagia were more likely to undergo EGD (50.0% vs. 20.2%, p = 0.007). Those who underwent EGD had more refractory disease (≥ 3 treatment modalities: 100% vs. 58.4%, p

22q11.2 DS is characterised by its variability, rarity and variety of features ranging from congenital heart conditions to psychiatric and behavioural issues. As a result, health information–seeking behaviour is different from other more common conditions. An exploratory study was carried out to understand how parents access information and support, and how that information is shared. Qualitative interviews were carried out with families and support group representatives, and thematic analysis was applied. Four main themes emerged from our findings: perceptions of clinical expertise, parent empowerment, support group activities and community building via an Internet platform. Our thematic analysis enabled the construction of a possible model of information-seeking behaviour in parents and carers of children with 22q11.2 DS. We discuss the model and how the understanding of how information is shared and gathered can aid in clinical practice.

The aim of this study was to describe complication rates and long-term functional outcomes among patients with amputated versus reconstructed limb after high-energy open tibial fractures. Patients treated operatively for a high-energy open tibial fracture, classified as Gustilo–Anderson (GA) grade 3, at our hospital in the time period 2004–2013 were invited to a clinical and radiographic follow-up at minimum 2 years after injury. Eighty-two patients with 87 GA grade 3 fractures were included. There were 39 type GA 3A, 34 GA 3B, and 14 GA 3C. The GA 3A reconstruction group had the lowest complication rate and the best long-term outcome scores at mean 5 years (range 2–8 years) after injury. Within the group of GA 3B and 3C fractures, we found no significant differences in long-term outcomes among patients with reconstructed versus amputated limbs. The mean physical component summary score of the SF-36 in the reconstruction versus amputation group was 54.2 (95% CI 46.3–62.1) versus 47.7 (95% CI 32.6–62.2), respectively (p = 0.524), while the mean mental component summary score was 63.7 (95% CI 50.6–71.8) versus 59.2 (95% CI 48.8–68.0), respectively (p = 0.603). On the 6-minute walk test, the reconstruction group walked on average 493 m (95% CI 447–535 m) versus 449 m (95% CI 384–518 m) in the amputation group. The return to work rate was 73% (16 of 22) in the reconstruction group versus 50% (7 of 14) in the amputation group (p = 0.166). The mean patient satisfaction score (VAS 0–100) was 67 (95% CI 67–77) in the reconstruction group versus 65 (95% CI 51–76) in the amputation group (p = 0.795). Regardless of the treatment strategy, the complication rate was high. Amputation should be considered as a viable treatment option, equal to limb salvage, after high-energy open tibial fracture with severe vascular damage or soft tissue loss.

SUBCULTURES, CULTURES AND CLASS John Clarke Stuart Hall Tony Jefferson Brian Roberts Our subject in this volume is Youth Cultures: our object, to explain them as a phenomenon, and their appearance in the post-war period. The subject has, of course, been massively treated, above all in the mass media. Yet, many of these surveys and analyses seem mainly to have multiplied the confusions and extended the mythologies surrounding the topic. By treating it in terms of its spectacular features only, these surveys have become part of the very phenomenon we want to explain. First, then, we must clear the ground, try to get behind the myths and explanations which cover up, rather than clarify, the problem. We have to construct the topic first-partly by demolishing certain concepts which, at present, are taken as adequately defining it. Necessarily, this exercise of penetrating beneath a popular construction must be done with care, lest we discard the ‘rational kernel’ along with its overpublicised husk.

The Genetic Counseling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure (PROM) that was developed to evaluate genetic counseling and testing services by measuring the construct of empowerment. The Genomics Outcome Scale (GOS) is a 6-item version of GCOS-24 that was designed to provide a PROM for use both within and outside clinical genetics services and reduce respondent burden. However, unlike GCOS-24, the sensitivity to change of the GOS have not yet been assessed in appropriate clinical settings. We carried out pre- and post-clinic surveys using the GOS to assess sensitivity to change of the GOS and produce before-and-after GOS data as part of a service evaluation. The survey was sent to patients attending the genetic counseling clinic for a first appointment at the All Wales Medical Genetic Service from 8 April 2019 to 18 September 2019. Patients attending disease management clinics, where genetic issues were not the primary concern, were excluded from this study. A total of 138 respondents were included in the final analysis. The result shows that empowerment scores, measured using the GOS, were significantly higher (p

There is much to celebrate about Dark Emu and the way in which this book has catapulted the ingenuity and diversity of Aboriginal and Torres Strait Islander people into the public arena. We can see...

Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases. Methods: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and pre-specified constructs will help generalise the findings and enable integration across the various sub-studies. Dissemination: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.

Summary Background Decisions about the continued need for control measures to contain the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) rely on accurate and up-to-date information about the number of people testing positive for SARS-CoV-2 and risk factors for testing positive. Existing surveillance systems are generally not based on population samples and are not longitudinal in design. Methods Samples were collected from individuals aged 2 years and older living in private households in England that were randomly selected from address lists and previous Office for National Statistics surveys in repeated cross-sectional household surveys with additional serial sampling and longitudinal follow-up. Participants completed a questionnaire and did nose and throat self-swabs. The percentage of individuals testing positive for SARS-CoV-2 RNA was estimated over time by use of dynamic multilevel regression and poststratification, to account for potential residual non-representativeness. Potential changes in risk factors for testing positive over time were also assessed. The study is registered with the ISRCTN Registry, ISRCTN21086382. Findings Between April 26 and Nov 1, 2020, results were available from 1 191 170 samples from 280 327 individuals; 5231 samples were positive overall, from 3923 individuals. The percentage of people testing positive for SARS-CoV-2 changed substantially over time, with an initial decrease between April 26 and June 28, 2020, from 0·40% (95% credible interval 0·29–0·54) to 0·06% (0·04–0·07), followed by low levels during July and August, 2020, before substantial increases at the end of August, 2020, with percentages testing positive above 1% from the end of October, 2020. Having a patient-facing role and working outside your home were important risk factors for testing positive for SARS-CoV-2 at the end of the first wave (April 26 to June 28, 2020), but not in the second wave (from the end of August to Nov 1, 2020). Age (young adults, particularly those aged 17–24 years) was an important initial driver of increased positivity rates in the second wave. For example, the estimated percentage of individuals testing positive was more than six times higher in those aged 17–24 years than in those aged 70 years or older at the end of September, 2020. A substantial proportion of infections were in individuals not reporting symptoms around their positive test (45–68%, dependent on calendar time. Interpretation Important risk factors for testing positive for SARS-CoV-2 varied substantially between the part of the first wave that was captured by the study (April to June, 2020) and the first part of the second wave of increased positivity rates (end of August to Nov 1, 2020), and a substantial proportion of infections were in individuals not reporting symptoms, indicating that continued monitoring for SARS-CoV-2 in the community will be important for managing the COVID-19 pandemic moving forwards. Funding Department of Health and Social Care.

A Recent news article suggested there is a ‘huge reservoir’ of undetected bovine TB (bTB) infection in cattle in the UK ( VR , 28 October 2019, vol 185, p 492) although this is disputed by Defra ( VR , 30 November 2019, vol 185, p 664). There have been many pleas for the development of a testing regime that is more sensitive and specific than the current single intradermal comparative cervical tuberculin (SICCT) and interferon gamma (IFN-γ) test combination (eg, VR , 3 September 2020, doi: 10.1136/vr.m3411) and we understand there are novel tests in development but they are not yet validated. The Enferplex Bovine TB antibody …

Mutations in the TRIM8 gene have been described in patients with severe developmental delay, intellectual disability and epilepsy. Only six patients have been described to date. All the previous mutations were truncating variants clustered in the C-terminus of the protein. A previous patient with TRIM8-related epileptic encephalopathy was reported to have nephrotic syndrome. Here we describe the clinical, radiological and histological features of an 8-year-old male patient with a TRIM8 mutation who, in contrast to previous patients, had only mild intellectual disability and well-controlled epilepsy. The patient was found to have proteinuria at 2 years of age. Renal biopsy findings were suggestive of focal segmental glomerulosclerosis. His kidney function declined and peritoneal dialysis was started at 5 years of age. He underwent renal transplant at 7 years of age. Trio-based whole genome sequencing identified a novel de novo heterozygous frameshift mutation in TRIM8 (NM_030912.2) c.1198_1220del, p.(Tyr400ArgfsTer2). This patient is further evidence that TRIM8 mutations cause a syndrome with both neurological and renal features. Our findings suggest the spectrum of TRIM8-related disease may be wider than previously thought with the possibility of milder neurodevelopmental problems and/or a more severe, progressive renal phenotype. We highlight the need for proteinuria screening in patients with TRIM8 mutations.

Librarians are continuously looking for new ways to make the training they offer accessible and engaging to both colleagues and users. One area where this is especially important is copyright – a topic many librarians identify as vital to their role, but they often find it hard to attend training. Cambridge University Libraries has introduced a range of methods to reach out to even the most reluctant copyright learner and improve the overall copyright literacy of its staff. This article showcases these methods in the form of ‘life hacks’ – simple measures which can be implemented with little or no cost and using existing resources. Methods outlined include making the best use of knowledge already present within your organisation, using visual methods to attract a new audience and creating interactive online resources. Also discussed is the importance of making copyright training accessible, both to users with disabilities and those who may have constraints on their time and technological ability. The article concludes with a reflection about the challenges faced whilst creating new resources. The techniques outlined in this case study can be adapted for use by a range of libraries no matter the target audience.

We advocate for a mission concept study for a space telescope dedicated to solar system science in Earth orbit. Such a study was recommended by the Committee on Astrobiology and Planetary Science (CAPS) report "Getting Ready for the Next Planetary Science Decadal Survey." The Mid-Decadal Review also recommended NASA to assess the role and value of space telescopes for planetary science. The need for high-resolution, UV-Visible capabilities is especially acute for planetary science with the impending end of the Hubble Space Telescope (HST); however, NASA has not funded a planetary telescope concept study, and the need to assess its value remains. Here, we present potential design options that should be explored to inform the decadal survey., Whitepaper submitted to Planetary Science and Astrobiology Decadal Survey

PurposeThis study aims to provide the first comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25- DEE) by reviewing newly identified and previously reported individuals.MethodsIndividuals harboring heterozygous missense or truncating variants in SNAP25 were assembled through collaboration with international colleagues, matchmaking platforms and literature review. For each individual, detailed phenotyping, classification and structural modeling of the identified variant was performed.ResultsThe cohort comprises 20 individuals with (likely) pathogenic de novo variants in SNAP25. Intellectual disability and early-onset epilepsy were identified as the core symptoms of SNAP25-DEE, with recurrent findings of movement disorders, cortical visual impairment and brain atrophy. Structural modeling for all variants predicted possible functional defects concerning SNAP25 or impaired interaction with other components of the SNARE complex.ConclusionWe provide a first comprehensive description of SNAP25-DEE with intellectual disability and early onset epilepsy mostly occurring before the age of two years. These core symptoms and additional recurrent phenotypes show an overlap to genes encoding other components or associated proteins of the SNARE complex such as STX1B, STXBP1 or VAMP2. Thus, these findings advance the concept of a group of neurodevelopmental disorders that may be termed “SNAREopathies”.

The Axion Dark Matter eXperiment (ADMX) relies equally on a low physical temperature T and low amplifier noise temperature TN to achieve a high Signal-to-Noise Ratio (SNR). The low noise amplifier is a Microstrip SQUID Amplifier (MSA) with TN of 200 mK, which compares favorably with the best available cryogenic transistor-based amplifiers with a TN of 1.5 K, allowing a search rate up to 56 times faster, depending on T. Here we present the operating principles of the MSA and some practical considerations of MSA design in a way we hope is accessible to those not otherwise familiar with superconducting electronics or amplifier design.

Purpose\ud This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals.\ud \ud Methods\ud Individuals harboring heterozygous missense or loss-of-function variants in SNAP25 were assembled through collaboration with international colleagues, matchmaking platforms, and literature review. For each individual, detailed phenotyping, classification, and structural modeling of the identified variant were performed.\ud \ud Results\ud The cohort comprises 23 individuals with pathogenic or likely pathogenic de novo variants in SNAP25. Intellectual disability and early-onset epilepsy were identified as the core symptoms of SNAP25-DEE, with recurrent findings of movement disorders, cerebral visual impairment, and brain atrophy. Structural modeling for all variants predicted possible functional defects concerning SNAP25 or impaired interaction with other components of the SNARE complex.\ud \ud Conclusion\ud We provide a comprehensive description of SNAP25-DEE with intellectual disability and early-onset epilepsy mostly occurring before the age of two years. These core symptoms and additional recurrent phenotypes show an overlap to genes encoding other components or associated proteins of the SNARE complex such as STX1B, STXBP1, or VAMP2. Thus, these findings advance the concept of a group of neurodevelopmental disorders that may be termed “SNAREopathies.”

The National Academy Committee on Astrobiology and Planetary Science (CAPS) made a recommendation to study a large/medium-class dedicated space telescope for planetary science, going beyond the Discovery-class dedicated planetary space telescope endorsed in Visions and Voyages. Such a telescope would observe targets across the entire solar system, engaging a broad spectrum of the science community. It would ensure that the high-resolution, high-sensitivity observations of the solar system in visible and UV wavelengths revolutionized by the Hubble Space Telescope (HST) could be extended. A dedicated telescope for solar system science would: (a) transform our understanding of time-dependent phenomena in our solar system that cannot be studied currently under programs to observe and visit new targets and (b) enable a comprehensive survey and spectral characterization of minor bodies across the solar system, which requires a large time allocation not supported by existing facilities. The time-domain phenomena to be explored are critically reliant on high spatial resolution UV-visible observations. This paper presents science themes and key questions that require a long-lasting space telescope dedicated to planetary science that can capture high-quality, consistent data at the required cadences that are free from effects of the terrestrial atmosphere and differences across observing facilities. Such a telescope would have excellent synergy with astrophysical facilities by placing planetary discoveries made by astrophysics assets in temporal context, as well as triggering detailed follow-up observations using larger telescopes. The telescope would support future missions to the Ice Giants, Ocean Worlds, and minor bodies across the solar system by placing the results of such targeted missions in the context of longer records of temporal activities and larger sample populations., Comment: A whitepaper submitted to the Planetary Science Decadal Survey

Supplemental Digital Content is available in the text., Background: It has been two centuries since Petrus Camper identified superficial fascia and over 175 years since Sir Astley Cooper wrote his book on the anatomy of the breast. In the 1990s, Ted Lockwood taught us the importance of the superficial fascia layers in body contouring procedures he pioneered. These descriptions, however, fail to explain the three-dimensional fascial system in the breast. The authors set out to discover and describe a theory of superficial fascia structures responsible for breast shape. Methods: The nature of the superficial fascia system that surrounds the breast and its attachments to the chest were studied in 12 cadaver breast dissections and in clinical cases of both cosmetic and reconstructive breast procedures. Results: The authors found a three-dimensional, closed system of fascia and fat surrounding the corpus mammae, which attaches to the skin by means of specialized vertical cutaneous ligaments, or Cooper ligaments, and which attaches to the chest wall by means of a three-dimensional zone of adherence at the breast’s periphery. Conclusions: The breast is shaped by a three-dimensional, fibrofatty fascial system. Two layers of this system surround the corpus mammae and fuse together around it, and anchor it to the chest wall in a structure we have called the circummammary ligament.

OBJECTIVE To determine the effects of exercise amount (kilocalories per session) and intensity (percent of maximal oxygen consumption [% VO2 peak]) on adipose tissue (AT) and skeletal muscle (SM) in adults with abdominal obesity. METHODS Participants (n = 103; 52.7 ± 7.6 years) were randomized to the following groups: control; low-amount, low-intensity exercise (180 kcal/session [women] and 300 kcal/session [men] at 50% VO2 peak); high-amount, low-intensity exercise (HALI; 360 kcal/session [women] and 600 kcal/session [men] at 50% VO2 peak); or high-amount, high-intensity exercise (HAHI; 360 kcal/session [women] and 600 kcal/session [men] at 75% VO2 peak) for 24 weeks. Activities of daily living were measured by accelerometry. Magnetic resonance imaging was used to measure tissue mass. RESULTS Reduction in all AT depots was greater in the exercise groups compared with control (P 0.05). Visceral and abdominal subcutaneous AT reduction was uniform across the abdomen. Total SM mass did not change with exercise compared with control (P = 0.32). However, while lower-body SM mass was maintained (P = 0.32), upper-body SM mass in the high-amount, high-intensity and the high-amount, low-intensity groups was reduced compared with controls (P

Copyright © 2018 by the American Society of Plastic Surgeons. Background: Soft-tissue complications often dictate the success of limb salvage and the overall outcome of open fractures. Based on prior work at the R Adams Cowley Shock Trauma Center, the authors hypothesize that wounds larger than 200 cm2 are associated with a greater likelihood of both flap-related reoperation and wound complications among patients requiring soft-tissue reconstruction with a rotational flap or free tissue transfer. Methods: This study was a secondary analysis of Fluid Lavage in Open Wounds trial data that included all patients who received a rotational or free tissue flap transfer for an open fracture. The primary outcome was flap-related reoperation within 12 months of injury. The secondary outcome was wound complication, which included events treated operatively or nonoperatively. Multivariable logistic regression was used to assess the association between wound size and outcomes, adjusting for confounders. Results: Seventeen percent of the 112 patients required a flap-related reoperation. A wound size greater than 200 cm2 was not associated with reoperation in an unadjusted model (p = 0.64) or adjusting for Gustilo type (p = 0.70). The sample had an overall wound complication rate of 47.3 percent. Patients with a wound size of greater than 200 cm2 were three times more likely to experience wound complications (OR, 3.05; 95 percent CI, 1.08 to 8.62; p = 0.04) when adjusting for moderate to severe wound contamination and wound closure in the operating room. Conclusion: The findings of this study demonstrate that wound surface area is an integral determinant for wound complication following soft-tissue flap treatment, but found no association between wound surface area and flap-related reoperation rates.

Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.

The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any age. However, it may be difficult to strike the right balance between enthusiasm on the one hand and realism on the other. One effect of this has been a fragmentation of the “Rett syndrome community” with some groups giving priority to work aimed at a cure while fewer resources are devoted to medical or therapy-based interventions to enhance the quality of life of affected patients or provide support for their families.\ud \ud Several possible therapeutic approaches are under development that, it is claimed and hoped, may lead to a “cure” for patients with Rett syndrome. While all have a rationale, there are potential obstacles to each being both safe and effective. Furthermore, any strategy that succeeded in restoring normal levels of MECP2 gene expression throughout the brain carries potential pitfalls, so that it will be of crucial importance to introduce any clinical trials of such therapies with great care.\ud \ud Expectations of families for a radical, rational treatment should not be inflated beyond a cautious optimism. This is particularly because affected patients with us now may not be able to reap the full benefits of a “cure”. Thus, interventions aimed at enhancing the quality of life of affected patients should not be forgone and their importance should not be minimised.

A consistent feature of predictive testing guidelines for Huntington's disease (HD) is the recommendation not to undertake predictive tests on those

Background We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. Methods The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain. The first experimental pilot program for Pompe disease began in 2005 in Taiwan. In 2013, Missouri was the first US state to implement Pompe newborn screening before its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2015 by the Advisory Committee on Heritable Disorders in Newborns and Children (United States). In 2008, SMA was reviewed and rejected for inclusion in the RUSP because no treatment existed. With the approval of nusinersen in late 2016, spinal muscular atrophy is being reconsidered for the RUSP. Results A condition should meet public health screening criteria to be included in the RUSP. Duchenne muscular dystrophy, Pompe, and SMA challenge traditional screening criteria: Duchenne muscular dystrophy does not present in infancy and lacks effective treatment; Pompe and SMA may not present until adulthood; and safety and efficacy of long-term intrathecal treatment for SMA is unknown. Potential reproductive benefit and improved research recruitment do not justify a public health screening program. Conclusions This review provides lessons that could benefit US public health departments as they consider expanding screening to include neuromuscular disorders like Duchenne muscular dystrophy, Pompe, and SMA.

In postemergency contexts such as the Democratic Republic of Congo (DR Congo), one of the crucial challenges that rural hospitals face is maintaining a pharmacy with essential medications and supplies. There is a negative humanitarian impact when hospitals do not have medications for treatable diseases; hospitals incur financial losses when too much medication is ordered and expires. Moreover, the cost of transporting medications and providing on-site supervision to remote hospitals is an extremely expensive endeavor. Sometimes, the transportation costs can exceed the cost of the medications. Using as a case study, the province of Bandundu, in the DR Congo, we attempt to determine the feasibility (in terms of problem complexity and potential savings) of a synchronized routing problem for medication delivery and on-site supervision visits. We propose a capacitated vehicle routing problem formulation handling several novel requirements: activity-wise synchronization, precedence, and two activity frequencies. We implement a new heuristic procedure with a geospatially enabled database to solve the problem. Administrators can use a web-based tool to view the results as interactive maps. Preliminary results suggest that a synchronized solution allows rural hospitals to increase accessibility to medical services to rural populations by increasing delivery frequencies from 4 months to 1 month.

Adoption of physical activity (PA) consistent with current guidelines does not improve maximal cardiorespiratory fitness (mCRF; V˙O2peak) beyond the error of measurement for approximately 30% of adults. Whether PA improves measures of exercise tolerance at submaximal levels (submaximal cardiorespiratory fitness [sCRF]) independent of change in mCRF is unknown. Here we assessed the relationship between exercise-induced changes in mCRF and sCRF.Twenty-five physically inactive men 30-60 yrs old (mean ± SD = 44.3 ± 9.1 yr) completed 4 wk of supervised exercise consisting of 30 min of exercise, five times per week at 65% mCRF. mCRF was assessed using a maximal treadmill test. sCRF was measured as follows: 1) exercise tolerance, the distance traveled during a 12-min time trial on a treadmill, and 2) change in heart rate (HR) at submaximal work rates during the maximal treadmill test. Daily PA was measured by accelerometry at baseline and 4 wk.mCRF (P = 0.009) and both measures of sCRF (P0.001) improved at 4 wk. No change in measures of daily PA was observed at 4-wk compared with baseline (P0.05). No association was observed between exercise-induced change in mCRF and change in either measure of sCRF (P0.05) after exercise training. In the group of participants who did not improve mCRF beyond the measurement error (n = 13, or 52%), we observed a significant improvement in both measures of sCRF (P0.001). Among these 13 individuals, all improved in at least one measure of sCRF.Exercise-induced improvements in mCRF were not associated with improvements in either measure of sCRF. Improvements in submaximal measures of cardiorespiratory fitness are observed in the absence of change in mCRF. Measures of sCRF capture peripheral adaptations to exercise not captured by measures of mCRF alone.

The deposition of scale in the near-well formation and production string can result in a significant decrease in well productivity. Properly designed scale inhibitor squeezes can successfully prevent scale deposition and extend well performance. Even though most wells in the Tengiz field produce virtually water free oil (less than 1% watercut (WC)), inorganic scales have been observed in many of these wells. Frequent acid stimulations are required to maintain the optimum well performance. An extensive research project was initiated to reduce the need for frequent acid treatments and still maintain well deliverability at sustained rates. To identify an effective scale inhibitor product, inhibitor-brine compatibility testing and dynamic tube-blocking performance testing were conducted. Field application of the selected inhibitor in both low and high rate wells has verified the effectiveness of the squeezes. Treatment with the scale inhibitor attained sustainable well productivity and delayed the need for subsequent acid stimulation treatments. This paper will share the best practices in scale inhibitor design, inhibitor selection, identification of well candidates, the execution and post treatment surveillance stages. Case studies shown to illustrate the performance of scale inhibitor squeezes in Tengiz.

IntroductionSurvivors of critical illness often experience significant morbidities, including muscle weakness and impairments in physical functioning. This muscle weakness is associated with longer duration mechanical ventilation, greater hospital costs and increased postdischarge impairments in physical function, quality of life and survival. Compared with standard of care, the benefits of greater protein intake combined with structured exercise started early after the onset of critical illness remain uncertain. However, the combination of protein supplementation and exercise in other populations has demonstrated positive effects on strength and function. In the present study, we will evaluate the effects of a combination of early implementation of intravenous amino acid supplementation and in-bed cycle ergometry exercise versus a ‘usual care’ control group in patients with acute respiratory failure requiring mechanical ventilation in an intensive care unit (ICU).Methods and analysisIn this multicentre, assessor-blinded, randomised controlled trial, we will randomise 142 patients in a 1:1 ratio to usual care (which commonly consists of minimal exercise and under-achievement of guideline-recommended caloric and protein intake goals) versus a combined intravenous amino acid supplementation and in-bed cycle ergometery exercise intervention. We hypothesise that this novel combined intervention will (1) improve physical functioning at hospital discharge; (2) reduce muscle wasting with improved amino acid metabolism and protein synthesis in-hospital and (3) improve patient-reported outcomes and healthcare resource utilisation at 6 months after enrolment. Key cointerventions will be standardised. In-hospital outcome assessments will be conducted at baseline, ICU discharge and hospital discharge. An intent-to-treat analysis will be used to analyse all data with additional per-protocol analyses.Ethics and disseminationThe trial received ethics approval at each institution and enrolment has begun. These results will inform both clinical practice and future research in the area. We plan to disseminate trial results in peer-reviewed journals, at national and international conferences, and via nutritional and rehabilitation-focused electronic education and knowledge translation platforms.Trial registration numberNCT03021902; Pre-results.

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 mutations have been reported in Rett patients, especially with the atypical presentation. Each gene and different mutations within each gene contribute to variability in clinical presentation, and several groups worldwide performed genotype-phenotype correlation studies using cohorts of patients with classic and atypical forms of Rett spectrum disorder. The Rett Networked Database is a unified registry of clinical and molecular data of Rett patients, and it is currently one of the largest Rett registries worldwide with several hundred records provided by Rett expert clinicians from 13 countries. Collected data revealed that the majority of MECP2-mutated patients present with the classic form, the majority of CDKL5-mutated patients with the early-onset seizure variant, and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the Rett Networked Database allows the grouping of patients presenting specific clinical and genetic characteristics for studies by the Rett community and beyond. These data will also serve for the development of clinical trials involving homogeneous groups of patients.

Background: Studies in Arab countries have shown a significant lack of knowledge of Premarital Screening and Genetic Counseling (PMSGC) Program. PMSGC can identify and modify, through prevention and management, some behavioral, medical, and other health risk factors known to impact pregnancy outcomes. Objective: The aim of this study was to explore the knowledge, attitudes, and practice of Qatari's toward the premarital screening program and shedding more light on a complex matter. Materials and Methods: A cross-sectional study based on Hospitals and Primary Health Care Centers. A total sample of 1246 participants was surveyed, and 873 participants (70.0%) expressed their consent to participate in the study during January 2013–May 2014. The questionnaire based on sociodemographic data and for responses, on the PMSGC program knowledge, attitude, and practice statements. In addition, questions were asked regarding the services, activities, and how to attract and motivate the PMSGC program. Results: The mean age and standard deviation (SD) of the males' age were 30.4 ± 6.50 and the mean and SD of females' age were 31.08 ± 5.98. There were statistically significant differences between males and females with regard to age, educational status, occupation status, household income, consanguinity, body mass index, cigarette smoking, and Shisha smoking. There were no any statistically significant differences between males and females regarding sickle cell anemia and thalassemia, glucose-6-phosphate dehydrogenase deficiency cystic fibrosis, homocystinuria, HIV, and hepatitis. The response to the ''Why proceeding through high-risk marriage?'' by gender, males and females responded statistically significant differences (P = 0.019). The step-wise multivariate regression analyses as predictors for knowledge of PMSGC program revealed that age, educational level, the lack knowledge of genetics counseling, parental interventions for cousin marriage decision, positive test results affect and change marriage decision, religious impact, household income, consanguinity, hereditary diseases knowledge, occupational status, and love factors were considered as the main factors associated with the premarriage screening and genetics counseling after adjusting for age, gender, and other variables. Conclusion: The current study revealed that knowledge and attitude regarding PMSGC program were low in population. Motivation, enforcement, and implementation of program at the school and university educational campaigns are vital. Improved counseling and adding new topics for counseling on genetic, chronic, and mental illness; building healthy families; and reproduction and fertility are considered to be top priorities in community.

Gastroparesis is defined as delayed gastric emptying in the absence of mechanical obstruction. Current treatment options are limited, with only one medication currently approved by the Food and Drug Administration. Recent advances in our understanding of pathophysiology have led to the recognition that gastroparesis is a heterogeneous disorder with multiple clinically relevant subsets. Over time, the role of the endoscopist has become key in the management of this disorder. For patients with predominant pyloric dysfunction, endoscopy in particular plays a major role in both diagnosis and therapy. Antroduodenal manometry, use of wireless motility capsules, use of the functional lumen imaging probe (impedance planimetry), and electrogastrography (EGG) have all been proposed as viable modalities to assess pyloric function. Endoscopic treatment options for pyloric dysfunction include treatment with botulinum toxin, transpyloric stent placement, and gastric pyloromyotomy. Through deep tissue biopsy, endoscopy is also emerging as a means to better understand pathophysiology and perhaps stratify patients into histologically-relevant subsets. Temporary gastric electrical stimulation has been proposed as a means to assess the clinical response to permanent implantation, although this remains controversial. Finally, endoscopy continues to have a role in the placement of enteral feeding and venting tubes. While our understanding of gastroparesis continues to evolve, the role of the endoscopy remains paramount in the management of this disorder.

Vortex formation time (VFT) is a continuous measure of the left ventricular (LV) filling that integrates all phases of diastole. This has been previously studied in patients with heart failure. This study examined the differences in VFT between healthy controls and elite athletes. We compared echocardiographic indices between elite male athletes (n = 41) and age-, weight- and sex-matched sedentary volunteers (n = 22). VFT was obtained using the validated formula: 4 × (1 − β)/π × α3 × LVEF, where β is the fraction of total transmitral diastolic stroke volume contributed by atrial contraction (assessed by time velocity integral of the mitral E- and A-waves) and α is the biplane end-diastolic volume (EDV)1/3 divided by mitral annular diameter during early diastole. Diastolic function was measured by the ratio of mitral peak velocity of early filling (E) to early diastolic mitral annular velocity (e′) (E/e′ ratio) and the ratio of E to mitral peak velocity of late filling (A) (E/A ratio). The heart rate was lower (63 ± 10 vs. 74 ± 6 beats per minute, p

Background: Few studies have evaluated the long-term results for nonoperatively treated acetabular fractures. The purpose of this study was to describe the long-term survival of the native acetabulum as well as the clinical and radiographic outcome for patients with nonoperatively treated acetabular fractures. Methods: All patients with acetabular fractures are prospectively registered in our acetabular fracture database and followed up at regular intervals for up to 20 years. We identified 236 patients (237 fractures) who had been treated nonoperatively between 1994 and 2004; 51 patients with incomplete data were excluded. For the survival analysis, 186 fractures with an average follow-up of 9 years (range, 1 to 20 years) were included. For the long-term clinical outcome, 104 patients with an average follow-up of 12.1 years (range, 9 to 20 years) were included. Results: The 10-year survival of the native hips was 94% (111 hips were at risk). Eighty-nine percent of the patients had a good or excellent Harris hip score, and 88% had a good or excellent Merle d’Aubigne and Postel score. The most important negative predictor for clinical outcome and survival of the hip was a fracture step-off of ≥2 mm measured in the obturator oblique radiograph. Conclusions: Nonoperative treatment of minimally displaced acetabular fractures yields good to excellent long-term results. For patients with a questionable indication for fracture surgery, oblique radiographs (Judet views) are a helpful tool in the decision-making process, as a fracture step-off of ≥2 mm is a strong predictor for a poor clinical and radiographic result at 10 years. Level of Evidence: Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.

Genome-wide testing methods include array comparative genomic hybridisation (aCGH), multiple gene panels, whole exome sequencing (WE) and whole genome sequencing (WGS). Here we introduce some of the key ethical and social considerations relating to informed consent for the testing of children, particularly the management of incidental findings and variants of unknown significance.

The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were filmed at home and at school or day centre. Analysis used real-time data capture software. Observational categories distinguished engagement in social and non-social pursuits, hand stereotypies, self-injury and the receipt of attention from a parent, teacher or carer. Associations between participant behaviour and intake variables and receipt of attention were explored. Concurrent and lagged conditional probabilities between behavioural categories and receipt of attention were calculated. Receipt of adult attention was high. Engagement in activity using the hands was associated with a less severe condition and greater developmental age. Engagement in activity, whether using the hands or not, and social engagement were positively associated with receipt of support. The extent of hand stereotypies varied greatly across participants but was independent of environmental events. Six participants self-injured. There was some evidence that self-injury was related to adult attention. Participants appeared to experience a carer and attention rich environment and their levels of engagement seemed high as a result. As in the more general literature, engagement in activity was related to personal development and to social support. Self-injury contrasted with hand stereotypies in having possible environmental function.

Objective: \ud\udX-linked hypohidrotic ectodermal dysplasia (XLHED), a developmental disorder characterized by malformation of hair, teeth, and sweat glands, results from defective ectodysplasin A1 (EDA1) caused by EDA mutations. Inability to sweat, the major problem of XLHED which can lead to life-threatening hyperthermia, has been shown to be amenable to intrauterine therapy with recombinant EDA1. The aim of this retrospective study was to evaluate the diagnostic accuracy of tooth germ sonography to identify affected fetuses in pregnant women with EDA mutations.\ud\udMethods: \ud\udTooth germ sonography was performed in 38 cases at 10 study sites between gestational weeks 18 and 28. XLHED was diagnosed if fewer than six tooth germs were detected in mandible and/or maxilla. In all subjects, diagnoses were verified postnatally by EDA sequencing and/or clinical findings (standardized clinical assessments of hair, sweating, and dentition; orthopantomograms). Estimated weights of 12 affected male fetuses and postnatal weight gain of 12 boys with XLHED were assessed using appropriate growth charts.\ud\udResults: \ud\udIn 19 of 38 sonografic examinations of 23 male and 13 female fetuses, a prenatal diagnosis of XLHED was made. The diagnosis proved to be correct in 37 cases; one affected male fetus was missed. Specificity and positive predictive value were both 100%. Tooth counting by clinical assessment corresponded well with radiografic findings. We observed no weight deficits of subjects with XLHED in utero but occasionally during infancy.\ud\udConclusions: \ud\udTooth germ sonography is highly specific and reliable in establishing a prenatal diagnosis of XLHED.

Background:Untreated developmental hip dysplasia may result in pain, loss of function and is a common cause of osteoarthritis (OA). The periacetabular osteotomy (PAO) was developed to relieve symptoms and postpone further degeneration of the hip. We aimed to assess preoperative clinical and radiographic prognostic factors and evaluate survivorship of PAO after medium-term follow-up of 7.4 (2–15) years.Methods:59 patients (69 hips) operated with a PAO through an anterior intrapelvic approach from 1999 to 2011 were retrospectively identified. The patients were evaluated radiographically and clinically with Harris Hip Score, Western Ontario and McMaster Universities Osteoarthritis Index and 15D quality of life questionnaires. Survival analyses identified native hip joint survival predictors.Results:9 hips (9 patients) were converted to a total hip arthroplasty (THA). Of the 50 remaining patients (60 hips), 44 patients (54 hips) were examined at medium-term follow-up. 3 patients were lost to follow-up or declined participation and 3 were interviewed by telephone. Patient age at time of surgery was 32 (14–44) years. Survival analyses showed 84.3% (95% confidence interval [CI], 68.7–92.5%) survival of the native hip at 8 years follow-up (number at risk 32) (worst case scenario 80% survival at 8 years, 95% CI, 63.9–89.2%, number at risk 32). Cox regression with presence of preoperative OA (Tönnis ⩾1), showed a crude hazard ratio for conversion to THA with preoperative OA of 13.73, p < 0.001.Conclusions:Periacetabular osteotomy through the anterior intrapelvic approach can be performed safely and with satisfactory results at medium-term follow-up. The presence of preoperative incipient OA (Tönnis ⩾1) is the most important predictor for poor hip joint survival.