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Objective: Fetal cells circulate in the maternal blood during early pregnancy. Because these cells are rare, noninvasive prenatal diagnosis from fetal cells can be achieved only after efficient enrichment procedures. Our aim was to develop a two-step enrichment procedure to isolate trophoblast cells from 20 ml of peripheral blood.Study Design: Blood was obtained from pregnant women between 6 and 15 weeks of gestation, before invasive procedures were performed. After enrichment, the success of isolating fetal cells was determined by amplification of Y chromosome sequences.Results: A highly specific X/Y polymerase chain reaction was established, sensitive enough to detect X and Y chromosome-specific sequences in one single cell and in one male among 100,000 female cells. Sex determination by polymerase chain reaction was compared with results from conventional karyotyping. The success rate was 91.7%.Conclusion: Enrichment of trophoblast cells from maternal blood as described here might be useful for early noninvasive prenatal diagnosis. [ABSTRACT FROM AUTHOR]

In this study, we evaluated the effect of hyperthermia on hematopoietic progenitors from six chronic myeloid leukemia (CML) bone marrow (BM) samples at diagnosis and four peripheral blood stem cell (PBSC) samples from CML patients after stem cell mobilisation. CD34-positive cells, isolated from these samples, were incubated for 2 h at 37, 42 or 43 degrees C and were plated in the colony-forming unit granulocyte-macrophage (CFU-GM) and the long-term culture initiating cell (LTCIC) assay. To evaluate purging, individual colonies from these assays were analyzed for the presence of the bcr-abl gene with interphase fluorescence in situ hybridization (FISH) and/or RT-PCR. BM samples showed a significant higher sensitivity both at the CFU-GM and LTCIC level, after treatment at 42 degrees C, as compared to the control BM samples obtained from healthy volunteers. The four BM samples of CML patients with a low leukocyte number at diagnosis harbored a mixture of bcr-abl-negative and positive colonies and an increase in the percentage of bcr-abl-negative colonies was observed in all cases. CML patients with a high leukocyte count at diagnosis, however, showed only bcr-abl-positive progenitors even after hyperthermia. PBSCs showed a significant higher sensitivity at the LTCIC level but not at the CFU-GM level, after treatment at 42 degrees C, as compared to the control PBSC samples obtained from nonhematologic cancer patients. Molecular analysis of individual colonies demonstrated an increase of bcr-abl-negative progenitors after thermic treatment in two out of three samples. When comparing both stem cell sources, PBSCs showed a decreased thermic sensitivity as compared to the BM samples at the CFU-GM level, whereas at the LTCIC level an increased thermic sensitivity was observed, both for the controls and the CML samples. In conclusion, both for BM and PBSCs samples, CML progenitors are more sensitive to hyperthermia than control cells, especially at the LTCIC level. In agreement with these results, an increase of bcr-abl-negative progenitors in six out of seven samples could be demonstrated either at the CFU-GM level, LTCIC level or both. Hyperthermia should be explored further as a possible purging modality in CML. [ABSTRACT FROM AUTHOR]

During the sixth millennium BCE, the first farmers of Central Europe rapidly expanded across a varied mosaic of forested environments. Such environments would have offered important sources of mineral-rich animal feed and shelter, prompting the question: to what extent did early farmers exploit forests to raise their herds? Here, to resolve this, we have assembled multi-regional datasets, comprising bulk and compound-specific stable isotope values from zooarchaeological remains and pottery, and conducted cross-correlation analyses within a palaeo-environmental framework. Our findings reveal a diversity of pasturing strategies for cattle employed by early farmers, with a notable emphasis on intensive utilization of forests for grazing and seasonal foddering in some regions. This experimentation with forest-based animal feeds by early farmers would have enhanced animal fertility and milk yields for human consumption, concurrently contributing to the expansion of prehistoric farming settlements and the transformation of forest ecosystems. Our study emphasizes the intricate relationship that existed between early farmers and forested landscapes, shedding light on the adaptive dynamics that shaped humans, animals and environments in the past., (© 2024. The Author(s).)

Introduction: This planned scoping review aims to provide insight into current literature regarding perceived quality of life (QoL), functioning and participation of patients with upper limb amputations (ULA) because of therapy-resistant debilitating complex regional pain syndrome type I (CRPS-I) or brachial plexus injury (BPI). It is important to gain insight into these outcomes, so we can properly inform and select patients eligible for amputation., Methods and Analysis: Joanna Briggs Institute methodology for scoping reviews, Systematic Reviews and Meta-Analyses Scoping Reviews guidelines and Arksey and O'Malley's framework will be used. Studies regarding adult patients with either BPI or CRPS-I who underwent ULA will be considered for inclusion. Studies should include one or more of the following topics: QoL, functioning or participation and should be written in English, German or Dutch. Searches will be conducted in the Cochrane database, PubMed, EMBASE and Google Scholar. Search strings will be provided by a licenced librarian. All relevant literatures will be considered for inclusion, regardless of published date, in order to give a full scope of available literature. Studies will be selected first by title, then abstract and finally by full article by two reviewers who will discuss after every round. A third reviewer will make final decisions to reach consensus if needed. Data will be presented as brief summaries and in tables using a modified data extraction table., Ethics and Dissemination: No ethical approval is required since no original data will be collected. Results will be disseminated through publication in a peer-reviewed journal and presentations at (inter)national conferences., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: The primary aim was to describe sports participation of Dutch children and adolescents with lower limb deficiencies (LLD). The secondary aim was to explore perceived limitations concerning sports participation., Methods: A total of 103 children and adolescents with LLD, aged 8-18 years (mean 11.7 years), were asked about their sports participation using a study-specific self-report questionnaire., Results: Children and adolescents with LLD frequently (78%) participated in sports activities, and most of them (68%) participated in the sport of their preference. Just over half of all children (52%) perceived an inability to participate in specific sports. Physical performance (running) and endurance were mentioned as the most limiting factors in participating in certain sports., Conclusion: Children and adolescents with LLD in the Netherlands participate in a variety of sports. Despite dependency on lower limb prostheses in most cases, children and adolescents with LLD have a high potentiality of participating in sports.

Direct, accurate, and precise dating of archaeological pottery vessels is now achievable using a recently developed approach based on the radiocarbon dating of purified molecular components of food residues preserved in the walls of pottery vessels. The method targets fatty acids from animal fat residues, making it uniquely suited for directly dating the inception of new food commodities in prehistoric populations. Here, we report a large-scale application of the method by directly dating the introduction of dairying into Central Europe by the Linearbandkeramik (LBK) cultural group based on dairy fat residues. The radiocarbon dates ( n = 27) from the 54th century BC from the western and eastern expansion of the LBK suggest dairy exploitation arrived with the first settlers in the respective regions and were not gradually adopted later. This is particularly significant, as contemporaneous LBK sites showed an uneven distribution of dairy exploitation. Significantly, our findings demonstrate the power of directly dating the introduction of new food commodities, hence removing taphonomic uncertainties when assessing this indirectly based on associated cultural materials or other remains.

In European and many African, Middle Eastern and southern Asian populations, lactase persistence (LP) is the most strongly selected monogenic trait to have evolved over the past 10,000 years 1 . Although the selection of LP and the consumption of prehistoric milk must be linked, considerable uncertainty remains concerning their spatiotemporal configuration and specific interactions 2,3 . Here we provide detailed distributions of milk exploitation across Europe over the past 9,000 years using around 7,000 pottery fat residues from more than 550 archaeological sites. European milk use was widespread from the Neolithic period onwards but varied spatially and temporally in intensity. Notably, LP selection varying with levels of prehistoric milk exploitation is no better at explaining LP allele frequency trajectories than uniform selection since the Neolithic period. In the UK Biobank 4,5 cohort of 500,000 contemporary Europeans, LP genotype was only weakly associated with milk consumption and did not show consistent associations with improved fitness or health indicators. This suggests that other reasons for the beneficial effects of LP should be considered for its rapid frequency increase. We propose that lactase non-persistent individuals consumed milk when it became available but, under conditions of famine and/or increased pathogen exposure, this was disadvantageous, driving LP selection in prehistoric Europe. Comparison of model likelihoods indicates that population fluctuations, settlement density and wild animal exploitation-proxies for these drivers-provide better explanations of LP selection than the extent of milk exploitation. These findings offer new perspectives on prehistoric milk exploitation and LP evolution., (© 2022. The Author(s), under exclusive licence to Springer Nature Limited.)

Purpose: Young adults with transversal upper limb reduction deficiency experience limitations regarding education, employment and obtaining a driver's license. Contribution of rehabilitation care within these domains has been reported to be inadequate. This study evaluates the needs and suggestions of participants in rehabilitation care., Methods: Two online focus groups with young adults and parents met during 4 consecutive days. Health care professionals joined a face-to-face focus group. Data analysis was based on framework analysis., Results: The rehabilitation team was mainly consulted for problems with residual limb or for prostheses. Young adults and their parents were mostly unaware of resources regarding education, job selection or obtaining a driver's license. Professionals stated that these subjects were addressed during periodic appointments. Young adults didn't always attend these appointments due to limited perceived benefit. To improve rehabilitation care, participants suggested methods for providing relevant information, facilitating peer contact and offering dedicated training programs to practice work-related tasks, prepare for job interviews or enhance self-confidence., Conclusion: Periodic appointments do not fulfil needs of young adults with transversal upper limb reduction deficiency. To improve care, rehabilitation teams should offer age-relevant information, share peer stories, and create dedicated training programs.

Background: Children with lower limb prostheses cannot always keep up with their peers during active play. A pediatric crossover foot may be a promising prosthetic alternative for children engaging in high-intensity movements necessary for active play., Objectives: To compare children's walking performance, running performance, experienced competence, and cosmesis using their prescribed prosthesis compared with the crossover foot., Study Design: Pretest-posttest study., Methods: Children with lower limb amputation or deficiency were recruited. Measurements were taken at baseline with the prescribed prosthesis and 6 weeks later with the crossover foot. Walking speed, energy cost of walking, anaerobic muscle power, stair climbing speed, ankle power, and cosmesis were evaluated., Results: Four children participated in the study. Two children had increased walking speed with the same energy cost, one child had decreased speed with increased energy cost, and one child had the same speed with decreased energy cost. Muscle power increased for three of the four children and ankle power increased for all children while using the crossover foot compared to the prescribed prosthesis. Two children reported knee pain or feeling excessive knee flexion when running with the crossover foot. One child reported negative feelings toward cosmesis of the crossover foot., Conclusions: This study suggests crossover foot may benefit active children by improving walking and running performance, and decreasing energy cost. However, knee pain reports or negative feelings toward the atypical design suggest the crossover foot may not be ideal for every child. Further research is needed to determine which pediatric users would benefit from this type of prosthetic foot., Clinical Relevance: Children with lower limb deficiencies are active prosthetic users who often switch between low- and high-intensity movements in their daily activities. Therefore, they might benefit from a crossover prosthetic design. The preliminary findings of this study suggest the crossover foot (XF) may be a promising foot for active children.

Pottery is one of the most commonly recovered artefacts from archaeological sites. Despite more than a century of relative dating based on typology and seriation 1 , accurate dating of pottery using the radiocarbon dating method has proven extremely challenging owing to the limited survival of organic temper and unreliability of visible residues 2-4 . Here we report a method to directly date archaeological pottery based on accelerator mass spectrometry analysis of 14 C in absorbed food residues using palmitic (C 16:0 ) and stearic (C 18:0 ) fatty acids purified by preparative gas chromatography 5-8 . We present accurate compound-specific radiocarbon determinations of lipids extracted from pottery vessels, which were rigorously evaluated by comparison with dendrochronological dates 9,10 and inclusion in site and regional chronologies that contained previously determined radiocarbon dates on other materials 11-15 . Notably, the compound-specific dates from each of the C 16:0 and C 18:0 fatty acids in pottery vessels provide an internal quality control of the results 6 and are entirely compatible with dates for other commonly dated materials. Accurate radiocarbon dating of pottery vessels can reveal: (1) the period of use of pottery; (2) the antiquity of organic residues, including when specific foodstuffs were exploited; (3) the chronology of sites in the absence of traditionally datable materials; and (4) direct verification of pottery typochronologies. Here we used the method to date the exploitation of dairy and carcass products in Neolithic vessels from Britain, Anatolia, central and western Europe, and Saharan Africa.

Infants attain the developmental milestone of self-recognition around 18 to 24 months of age. At 18 months of age, half of the infant population typically shows signs of self-recognition in the classic mirror test. The current study examined the functional neural correlates of the perception of self in infancy. Eighteen-month-old infants observed photographs of their own face, the face of an unfamiliar infant, the face of their caregiver, and the face of an unfamiliar caregiver, while their EEG was registered. The results show that infants show an enhanced response to their own face compared to other faces. The N290, an established face-selective ERP component in infants, was larger for observation of their own face compared to others' faces. In addition to the EEG task, the mirror test was administered. Half of the infants in our sample recognized themselves in the mirror. However, there were no differences in the ERP responses between the infants who did and did not recognize themselves in the mirror. This suggests that a distinction between the neural response to self and to others does not necessarily express itself in self-recognition behavior., (© 2016 John Wiley & Sons Ltd.)

Purpose: Amputations and fitting surgery have a long history in children with limb deficiencies. With the current developments in limb reconstruction and new techniques in prosthetics, the indications for amputation and fitting surgery might have shifted, but still have a very important role in creating high functional performance, optimal participation and quality of life. The purpose of this current concepts article is to give an overview of the indications, dilemmas and technical considerations in the decision-making for amputation and fitting surgery. A special part of this overview is dedicated to the indications, variations and outcomes in rotationplasties., Methods: The article is based on the experience of a multidisciplinary reconstruction team for children with complex limb deficiencies, as well as research of the literature on the various aspects that cover this multidisciplinary topic., Results: For those children with a more severe limb deficiency, reconstruction is not always feasible for every patient. In those cases, amputation with prosthetic fitting can lead to a good result. Outcomes in quality of life and function do not significantly differ from the children that had reconstruction. For children with a postaxial deficiency with a femur that is too short for lengthening, and with a stable ankle and foot with good function, rotationplasty offers the best functional outcome. However, the decision-making between the different options will depend on different individual factors., Conclusions: Amputations and rotationplasties combined with optimal prosthesis fitting in children with more severe limb deficiencies may lead to excellent short- and long-term results. An experienced multidisciplinary team for children with complex limb deficiencies should guide the patient and parents in the decision-making between the different options without or with prosthesis., Competing Interests: Compliance with ethical standards Ethical approval This article does not contain any studies with human participants performed by any of the authors.

Objective: To evaluate use of, satisfaction with, and social adjustment with adaptive devices compared with prostheses in young people with upper limb reduction deficiencies., Methods: Cross-sectional study of 218 young people with upper limb reduction deficiencies (age range 2-20 years) and their parents. A questionnaire was used to evaluate participants' characteristics, difficulties encountered, and preferred solutions for activities, use satisfaction, and social adjustment with adaptive devices vs prostheses. The Quebec User Evaluation of Satisfaction with assistive Technology and a subscale of Trinity Amputation and Prosthesis Experience Scales were used., Results: Of 218 participants, 58% were boys, 87% had transversal upper limb reduction deficiencies, 76% with past/present use of adaptive devices and 37% with past/present use of prostheses. Young people (> 50%) had difficulties in performing activities. Of 360 adaptive devices, 43% were used for self-care (using cutlery), 28% for mobility (riding a bicycle) and 5% for leisure activities. Prostheses were used for self-care (4%), mobility (9%), communication (3%), recreation and leisure (6%) and work/employment (4%). The preferred solution for difficult activities was using unaffected and affected arms/hands and other body parts (> 60%), adaptive devices (< 48%) and prostheses (< 9%). Satisfaction and social adjustment with adaptive devices were greater than with prostheses (p < 0.05)., Conclusion: Young people with upper limb reduction deficiencies are satisfied and socially well-adjusted with adaptive devices. Adaptive devices are good alternatives to prostheses.

Purpose: To evaluate all functional aspects of patients with longitudinal radial dysplasia and to clarify the relationship between body functions on the one hand and limitations in activity and participation on the other hand., Methods: Thirty-one arms of seventeen adult patients with longitudinal radial dysplasia were analysed. Body function was assessed by measuring grip and pinch strength and active range of motion (ROM) of the hand. Activities were measured using the "Sequential Occupational Dexterity Assessment ", to measure perceived restrictions in participation the "Impact on Participation and Autonomy questionnaire" was used. Relationships between severity of dysplasia, body function, participation and activity were determined., Results: Patients with a severe type scored significantly lower in body function scores than patients with a mild form. Patients with limited active finger joint motion performed worse on activities. We found no significant differences in activity and participation between mild or severe types and found no correlation in participation scores., Conclusion: Although considerable restrictions in joint mobility and strength were revealed, little or no limitations on the activity and participation level were found. Limitations in body functions hardly influenced capacity on activity level and did not influence participation in societal roles.

Background: Youngsters with unilateral congenital below-elbow deficiency (UCBED) seem to function well with or without a prosthesis. Reasons for rejecting prostheses have been reported earlier, but unfortunately not those of the children themselves. Furthermore, reasons for acceptance are underexplored in the literature., Objectives: To investigate opinions of children and early and late adolescents with UCBED, and those of their parents and healthcare professionals, concerning (1) reasons to wear or not to wear prostheses and (2) about rehabilitation care., Methods: During one week of online focus group interviews, 42 children of 8-12 y/o, early and late adolescents of 13-16 and 17-20 y/o, 17 parents, and 19 healthcare professionals provided their opinions on various topics. This study addresses prosthetic use or non-use of prosthetics and rehabilitation care. Data were analyzed using the framework approach., Results: Cosmesis was considered to be the prime factor for choosing and wearing a prosthesis, since this was deemed especially useful in avoiding stares from others. Although participants functioned well without prostheses, they agreed that it was an adjuvant in daily-life activities and sports. Weight and limited functionality constituted rejection reasons for a prosthesis. Children and adolescents who had accepted that they were different no longer needed the prosthesis to avoid being stared at. The majority of participants highly valued the peer-to-peer contact provided by the healthcare professionals., Conclusions: For children and adolescents with UCBED, prostheses appeared particularly important for social integration, but much less so for functionality. Peer-to-peer contact seemed to provide support during the process of achieving social integration and should be embedded in the healthcare process.