História da construção de saberes em enfermagem traumato-ortopédica / History of knowledge construction in trauma and orthopedic nursing care / Historia de la construcción del conocimiento en enfermería traumatológica ortopédica

Objetivo: analisar o desenvolvimento da enfermagem traumato-ortopédica a partir da primeira turma de residentes de um hospital especializado. Método: o estudo seguiu a metodologia histórica com abordagem qualitativa. As fontes foram documentos escritos e orais. Resultados: trabalhar em uma instituição especializada foi o ponto de partida para a busca por especialização de enfermeiras atuantes no cuidado traumato-ortopédico, que perceberam o saber/poder adquirido no trabalho assistencial, além da intenção de qualificar a assistência e elevar o hospital a instituto. Estratégias empregadas reúnem a busca por parcerias com instituições universitárias e associativas, além da criação de uma associação própria. Considerações finais: a enfermagem traumato-ortopédica ampliou seu espaço científico ao criar um curso de especialização com uma unidade acadêmica. Foi possível delimitar o poder acadêmico e institucional da enfermagem na instituição de saúde pela formação de enfermeiras especialistas constituindo um grupo de reconhecido pelo saber científico.

Objective: to analyze the development of trauma and orthopedic nursing care from the very first class of residents of a specialized hospital. Method: historical methodology study with a qualitative approach. The sources consisted of written and oral documents. Results: working in a specialized institution was the starting point for nurses who were seeking specialization in the field of trauma and orthopedic care as they noticed the power-knowledge acquired through care work, plus they were willing to improve assistance and take the hospital up to an institute level. Strategies used include the search for partnerships with universities and associative-type institutions, in addition to creating their own association. Final considerations: trauma and orthopedic nursing care expanded its scientific space by creating a specialization course together with an academic unit. It was possible to define the academic and institutional power of the nursing staff in the health institution by considering the training process of its nurse specialists, who consisted of a group recognized for their scientific knowledge.

Objetivo: analizar el desarrollo de la enfermería traumatológica ortopédica a partir del primer grupo de residentes de un hospital especializado. Método: estudio con metodología histórica con un enfoque cualitativo. Las fuentes fueron documentos escritos y orales. Resultados: el trabajo en una institución especializada fue el punto de partida para la búsqueda de la especialización de las enfermeras que trabajaban en la atención traumatológica ortopédica, quienes notaron el saber/poder adquirido en el trabajo asistencial, además de la intención de cualificar la atención y elevar el hospital al nivel de instituto. Las estrategias empleadas incluyen la búsqueda de alianzas con instituciones universitarias y asociaciones, y la creación de una asociación propia. Consideraciones finales: la enfermería traumatológica ortopédica amplió su espacio científico mediante la creación de un curso de especialización con una unidad académica. Se logró delimitar el poder académico e institucional de la enfermería en la institución de salud a través de la formación de enfermeros especialistas, que es un grupo reconocido por el conocimiento científico.

Material History, Historied Materials and the Question of Epistemic Freedom in Ghana's Medical Schools.

Medical schools rely on a wide range of tools, technologies and materials for their teaching, on books, and bodies, and on the buildings which house them. This article considers the histories of this material culture in the three oldest medical schools operating in Ghana today. Borrowing theoretical concepts from Science and Technology Studies, medical anthropology and postcolonial political economy, this article takes that the material culture of modern medical education often binds contemporary pedagogy to outdated ideas and faraway places. The agential, proselytising nature of these historied materials agitates against the localisation of biomedicine and contributes to a distracting scientific imaginary which remains centred around historical, often imperial centres of knowledge production in Europe and North America.

The prominent role of Charcot and the French neurological tradition in Latin America.

The establishment of neurology schools in Latin America during the late-nineteenth and early-twentieth centuries profoundly influenced the French neurology school. In the latter half of the nineteenth century, the neurology department at the Salpêtrière Hospital in Paris held a preeminent position as the global hub of neurology. Professor Jean-Martin Charcot, widely acclaimed as the father of modern neurology, was the most revered neurology professor of the nineteenth century. Many physicians from diverse countries across South America (notably Argentina, Uruguay, Peru, Brazil, and Colombia), the Caribbean (Cuba), and Mexico pursued specialized training in neurology under Charcot's tutelage, and even after his passing in 1893, they continued their training with his numerous disciples. As a result, nearly two centuries after the birth of Charcot, his enduring contributions to the field of neurology remain vibrantly influential, particularly in Latin America.

Weight History Correlates of Resting Energy Expenditure in Women With Bulimia Nervosa.

OBJECTIVE: Among those with bulimia nervosa, weight suppression has been associated with illness severity and treatment prognosis. Although significant weight loss is known to reduce metabolic rate, the relation between weight suppression and resting energy expenditure (REE) in bulimia nervosa has not been examined. This study tested the hypothesis of an inverse relation between weight suppression and REE in a sample of women with bulimia nervosa (N = 84). METHODS: In primary analyses, linear regressions were conducted between weight suppression and REE, corrected for fat-free mass. In follow-up, exploratory analyses, stepwise linear regressions were conducted to explore the main and interaction effects of weight history and weight suppression on REE. RESULTS: Neither traditional (TWS) nor developmental weight suppression (DWS) correlated with REE. Results from exploratory analyses, however, revealed a medium-to-large inverse relation between several weight history variables and REE (highest past weight, sr2 = 0.05; lowest postmorbid weight, sr2 = 0.07; current weight, sr2 = 0.05). Additionally, DWS interacted with current (sr2 = 0.08) and highest premorbid (sr2 = 0.05) z-BMI to influence REE with a medium-to-large effect. For individuals low in current and premorbid z-BMIs, higher DWS associated with lower REE levels. However, for individuals at higher premorbid z-BMIs, higher DWS unexpectedly associated with greater REE levels. DISCUSSION: In this sample of women with bulimia nervosa, reduced REE associated with higher weights across all timepoints. If the interaction effect between DWS and z-BMI history persists in future studies, this may indicate unique challenges faced by individuals low in z-BMI and high in DWS related to weight gain and normalization of eating.

Legacy of Compassion: The Life and Contributions of Dr. Ronald Joseph Garst in Advancing Orthopaedic Surgery in Bangladesh.

Dr. Ronald Joseph Garst, a distinguished spine surgeon and missionary, significantly impacted the field of orthopaedic surgery in Bangladesh, especially during and after the country's Liberation War, when the nation had no orthopaedic specialists. His experiences during Bangladesh's struggle for independence inspired him to establish rehabilitation centers for injured freedom fighters and to found the Rehabilitation Institute and Hospital for the Disabled (RIHD), which later became the National Institute of Traumatology and Orthopaedic Rehabilitation (NITOR), Bangladesh's first tertiary-level trauma center. In Bangladesh, Dr. Garst was critical in organizing care for injured freedom fighters, setting up a central limb and brace center, and launching a post-graduate training program for orthopaedics, physiotherapists, and occupational therapists. He successfully raised funds, attracted international support, and provided essential training to Bangladeshi doctors, nurses, and limb-makers.  Dr. Garst's legacy extends beyond his medical achievements; his humanitarian spirit and dedication to helping the underprivileged earned him honorary citizenship in Bangladesh. He remained committed to supporting ongoing efforts at RIHD, frequently visiting Bangladesh and contributing equipment and training materials until his passing. Dr. Garst's contributions, such as initiating morning academic sessions at RIHD, continue to influence the orthopaedic community in Bangladesh. This article explores Dr. Garst's remarkable journey, his influence on orthopaedic surgery in Bangladesh, and the enduring impact of his work.

Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.

Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.

Assessment and examination of the respiratory system.

This article aims to outline the fundamental principles of consultations with and clinical assessments of patients with symptoms that may be indicative of respiratory system pathology. The article explores how to perform a respiratory system-focused patient history and physical examination. An evaluation of clinical 'red flags' to reduce the risk of omitting serious illness is also considered, alongside the exploration of features of respiratory pathology and evidence-based clinical decision-making tools that may be used to support clinical diagnosis.

Evaluating a medication history-taking entrustable professional activity and its assessment tool - Survey of a statewide public hospital pharmacy service.

INTRODUCTION: Entrustable Professional Activities (EPAs) are tasks that professionals within a field perform autonomously. EPAs are incorporated in workplace-based assessment tools to assist training and professional development. Few studies have evaluated medication history-taking EPAs use in pharmacy practice and none have sought stakeholder feedback on their use. This study evaluates the quality of the medication history-taking EPA utilized in South Australian public hospitals and the usability of its assessment tool. METHODS: A voluntary online questionnaire was conducted from July 15th to September 2nd 2021 to gather the opinions of stakeholders on the use of the medication history-taking EPA. The questionnaire was developed based on tools identified in the literature and utilized 14 open-text and five-point Likert scale questions. The questionnaire was distributed using Survey Monkey® to a purposive sample of staff and students. RESULTS: 82 responses were received from 218 surveys distributed, yielding a response rate of 38%. Respondents believed the EPA promotes learner development (90.6%) and the provision of useful feedback (83%). 94.3% considered the EPA to be easy to use but only 56.6% indicated that using it fits easily within their workday. Time constraints and the presence of context-specific descriptors were commonly perceived as limitations. Some stakeholders indicated a lack of understanding of entrustment decisions. CONCLUSION: The EPA and its assessment tool were perceived to have good quality and usability. Reducing the length of the tool, broadening its applicability across contexts, and improving user understanding of entrustment decision-making may support better use of the tool.

Narcolepsy and rapid eye movement sleep.

Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep-related disease symptoms of the disease (excessive daytime sleepiness with early occurrence of rapid eye movement sleep, sleep-related hallucinations, sleep paralysis, rapid eye movement parasomnia), as possible dysregulation of rapid eye movement sleep, and cataplexy resembling an intrusion of rapid eye movement atonia during wake. The relevance of non-sleep-related symptoms, such as obesity, precocious puberty, psychiatric and cardiovascular morbidities, has subsequently been recognized. The diagnostic tools have been improved, but sleep-onset rapid eye movement periods on polysomnography and Multiple Sleep Latency Test remain key criteria. The pathogenic mechanisms of narcolepsy type 1 have been partly elucidated after the discovery of strong HLA class II association and orexin/hypocretin deficiency, a neurotransmitter that is involved in altered rapid eye movement sleep regulation. Conversely, the causes of narcolepsy type 2, where cataplexy and orexin deficiency are absent, remain unknown. Symptomatic medications to treat patients with narcolepsy have been developed, and management has been codified with guidelines, until the recent promising orexin-receptor agonists. The present review retraces the steps of the research on narcolepsy that linked the features of the disease with rapid eye movement sleep abnormality, and those that do not appear associated with rapid eye movement sleep.

Pioneers of cortical cytoarchitectonics: the forgotten contribution of Herbert Major.

The study of cortical cytoarchitectonics and the histology of the human cerebral cortex was pursued by many investigators in the second half of the nineteenth century, such as Jacob Lockhart Clarke, Theodor Meynert, and Vladimir Betz. Another of these pioneers, whose name has largely been lost to posterity, is considered here: Herbert Coddington Major (1850-1921). Working at the West Riding Asylum in Wakefield, United Kingdom, Major's thesis of 1875 described and illustrated six-layered cortical structure in both non-human primates and man, as well as "giant nerve cells" which corresponded to those cells previously described, but not illustrated, by Betz. Further journal publications by Major in 1876 and 1877 confirmed his finding of six cortical strata. However, Major's work was almost entirely neglected by his contemporaries, including his colleague and sometime pupil at the West Riding Asylum, William Bevan-Lewis (1847-1929), who later (1878) reported the presence of both pentalaminar and hexalaminar cortices. Bevan-Lewis's work was also later credited with the first illustration of Betz cells.

An iconodiagnosis for Joos Vijd, as painted by the van Eycks in the Ghent Altarpiece.

The Ghent Altarpiece, a jewel of Gothic art painted by the van Eyck brothers in the fifteenth century, is particularly noteworthy for its use of an innovative dilution of oil, giving it a realistic scope that is particularly conducive to iconodiagnostic hypotheses. For the first time in the literature, we are taking a medical look at this masterpiece, and more specifically at the representation of its patron, whose identity is well known: Joos Vijd, a powerful notable from the town of Ghent, in modern-day Belgium. A vascular turgidity of the temporal artery, which can be suggestive of temporal arteritis, Hertoghe's sign and a slight ear crease were observed. These signs might be vascular lesions accentuated by Vijd's age and attest to van Eyck's virtuosity and anatomic accuracy.

Leach's storm-petrel (Hydrobates leucorhous), a long-lived seabird shows flexible, condition-dependent, feeding strategies in response to poor chick condition.

BACKGROUND: Parent-offspring conflict represents the sensitive balance of resource allocation between self-maintenance and reproduction. Two strategies have been proposed to better understand how species manage this conflict. In fixed-level feeding behavior, parents feed offspring consistent quantities of food; while flexible feeding shows plasticity in parental allocation based on offspring need. Life-history theory predicts that parents of long-lived species prioritize their survival and may favor the fixed-level hypothesis to maximize lifetime reproductive success. In this study, we highlight the natural variation of parent-offspring allocation strategies within a unique population of Leach's storm-petrels (Hydrobates leucorhous), and through month-long food supplementation and restriction manipulations, we investigate how chick condition affects parental provisioning during the chick-rearing period of reproduction. RESULTS: We show that the parents upregulated chick feeding frequency of nutritionally deprived chicks, resulting in a larger total amount of food delivered during the study period. Additionally, the proportion of nights when both parents fed was highest in restricted chicks, and the proportion of nights when neither parents fed was lowest in restricted chicks, suggesting that storm-petrel parents shorten their foraging bouts to deliver food more often when their chicks are in relatively poor condition. CONCLUSIONS: Our results support that Leach's storm-petrels use a flexible-level feeding strategy, suggesting that parents can assess offspring condition, and respond by feeding chicks at higher frequencies. These data provide insight on how a long-lived seabird balances its own energetic demands with that of their offspring during the reproductive period.

Genetic and phenotypic diversification in a widespread fish, the Sailfin Molly (Poecilia latipinna).

Widespread species often experience significant environmental clines over the area they naturally occupy. We investigated a widespread livebearing fish, the Sailfin molly (Poecilia latipinna) combining genetic, life-history, and environmental data, asking how structured populations are. Sailfin mollies can be found in coastal freshwater and brackish habitats from roughly Tampico, Veracruz in Mexico to Wilmington, North Carolina, in the USA. In addition, they are found inland on the Florida peninsula. Using microsatellite DNA, we genotyped 168 individuals from 18 populations covering most of the natural range of the Sailfin molly. We further determined standard life-history parameters for both males and females for these populations. Finally, we measured biotic and abiotic parameters in the field. We found six distinct genetic clusters based on microsatellite data, with very strong indication of isolation by distance. However, we also found significant numbers of migrants between adjacent populations. Despite genetic structuring we did not find evidence of cryptic speciation. The genetic clusters and the migration patterns do not match paleodrainages. Life histories vary between populations but not in a way that is easy to interpret. We suggest a role of humans in migration in the sailfin molly, for example in the form of a ship channel that connects southern Texas with Louisiana which might be a conduit for fish migration.

Modulation of gut microbiota composition and predicted metabolic capacity after nutritional programming with a plant-rich diet in Atlantic salmon (Salmo salar): insights across developmental stages.

To promote sustainable aquaculture, the formulation of Atlantic salmon (Salmo salar) feeds has changed in recent decades, focusing on replacing standard marine-based ingredients with plant-based alternatives, increasingly demonstrating successful outcomes in terms of fish performance. However, little is known about how these plant-based diets may impact the gut microbiota at first feeding and onwards. Nutritional programming (NP) is one strategy applied for exposing fish to a plant-based (V) diet at an early stage in life to promote full utilisation of plant-based ingredients and prevent potential adverse impacts of exposure to a plant-rich diet later in life. We investigated the impact of NP on gut microbiota by introducing fish to plant ingredients (V fish) during first feeding for a brief period of two weeks (stimulus phase) and compared those to fish fed a marine-based diet (M fish). Results demonstrated that V fish not only maintained growth performance at 16 (intermediate phase) and 22 (challenge phase) weeks post first feeding (wpff) when compared to M fish but also modulated gut microbiota. PERMANOVA general effects revealed gut microbiota dissimilarity by fish group (V vs. M fish) and phases (stimulus vs. intermediate vs. challenge). However, no interaction effect of both groups and phases was demonstrated, suggesting a sustained impact of V diet (nutritional history) on fish across time points/phases. Moreover, the V diet exerted a significant cumulative modulatory effect on the Atlantic salmon gut microbiota at 16 wpff that was not demonstrated at two wpff, although both fish groups were fed the M diet at 16 wpff. The nutritional history/dietary regime is the main NP influencing factor, whereas environmental and host factors significantly impacted microbiota composition in M fish. Microbial metabolic reactions of amino acid metabolism were higher in M fish when compared to V fish at two wpff suggesting microbiota played a role in digesting the essential amino acids of M feed. The excessive mucin O-degradation revealed in V fish at two wpff was mitigated in later life stages after NP, suggesting physiological adaptability and tolerance to V diet. Future studies are required to explore more fully how the microbiota functionally contributes to the NP.

Remnant salmon life history diversity rediscovered in a highly compressed habitat.

Chinook salmon (Oncorhynchus tshawytscha) display remarkable life history diversity, underpinning their ability to adapt to environmental change. Maintaining life history diversity is vital to the resilience and stability of Chinook salmon metapopulations, particularly under changing climates. However, the conditions that promote life history diversity are rapidly disappearing, as anthropogenic forces promote homogenization of habitats and genetic lineages. In this study, we use the highly modified Yuba River in California to understand if distinct genetic lineages and life histories still exist, despite reductions in spawning habitat and hatchery practices that have promoted introgression. There is currently a concerted effort to protect federally listed Central Valley spring-run Chinook salmon populations, given that few wild populations still exist. Despite this, we lack a comprehensive understanding of the genetic and life history diversity of Chinook salmon present in the Yuba River. To understand this diversity, we collected migration timing data and GREB1L genotypes from hook-and-line, acoustic tagging, and carcass surveys of Chinook salmon in the Yuba River between 2009 and 2011. Variation in the GREB1L region of the genome is tightly linked with run timing in Chinook salmon throughout their range, but the relationship between this variation and entry on spawning grounds is little explored in California's Central Valley. We found that the date Chinook salmon crossed the lowest barrier to Yuba River spawning habitat (Daguerre Point Dam) was tightly correlated with their GREB1L genotype. Importantly, our study confirms that ESA-listed spring-run Chinook salmon are spawning in the Yuba River, promoting a portfolio of life history and genetic diversity, despite the highly compressed habitat. This work highlights the need to identify and protect this life history diversity, especially in heavily impacted systems, to maintain healthy Chinook salmon metapopulations. Without protection, we run the risk of losing the last vestiges of important genetic variation.

Electroacupuncture for slow flow/no-reflow phenomenon in patients with acute myocardial infarction undergoing percutaneous coronary intervention: protocol for a pilot randomized controlled trial.

Background: Slow flow/no-reflow (SF-NR) during percutaneous coronary intervention (PCI) is associated with poor prognosis of patients with acute myocardial infarction (AMI). Currently, effective treatment is not available for SF-NR. Electroacupuncture (EA) has shown significant efficacy as an adjuvant therapy for many cardiovascular diseases by improving microcirculation and reducing ischemia-reperfusion injury. However, its effects on SF-NR in the AMI patients during PCI are not clear. This pilot trial aims to determine the efficacy of intraoperative EA in alleviating SF-NR in AMI patients undergoing PCI. Methods: This prospective, single-center, randomized controlled, pilot trial will recruit 60 AMI patients scheduled for PCI at the Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, China. The patients will be randomized in a 1:1 ratio into the EA or the control groups. Patients in the control group will undergo standard PCI. Patients in the EA group will undergo intraoperative electroacupuncture while undergoing standard PCI. Incidence of SF-NR is the primary outcome for this study. This study will also assess secondary outcomes including cardiac biomarkers, inflammatory biomarkers, pain and anxiety scores, electrocardiography parameters, traditional Chinese medicine (TCM) symptom score, and major adverse cardiovascular and cerebrovascular events (MACCE). All the included patients will undergo laboratory tests including routine blood tests, levels of electrolytes, as well as liver and renal function tests. Patients will be followed up for 1 month after the procedure. Discussion: This pilot trial will provide evidence for the potential benefits of intraoperative EA in improving microvascular perfusion and preventing or alleviating SF-NR during PCI in patients with AMI. If proven effective, intraoperative EA will provide a new and effective strategy against SF-NR and provide evidence for subsequent multicenter trials. Clinical Trial Registration: ClinicalTrials.gov, identifier (ChiCTR2300072265). Registered on 8 June 2023.

Assessing the impact of history of medicine research: A scientometric and altmetric analysis.

Background and Aims: After conducting a comprehensive literature search of two medical electronic databases, PubMed and Embase, as well as two citation databases, Web of Science Core Collections (WoS) and Scopus, we aimed to conduct an Altmetric and Scientometric analysis of the History of Medicine literature in medical research. Methods: The following software tools were used for analyzing the retrieved records from PubMed and Embase databases and conducting a collaboration analysis to identify the countries involved in scientific medical papers, as well as clustering keywords to reveal the trend of History of Medicine research for the future. These software tools (VOSviewer 1.6.18 and Spss 16) allowed the researchers to visualize bibliometric networks, perform statistical analysis, and identify patterns and trends in the data. Results: Our analysis revealed 53,771 records from PubMed and 54,405 records from EMBASE databases retrieved in the field of History of Medicine by 105,286 contributed authors in WoS. We identified 157 countries that collaborated on scientific medical papers. By clustering 59,995 keywords, we were able to reveal the trend of History of Medicine research for the future. Our findings showed a positive association between traditional bibliometrics and social media metrics such as the Altmetric Attention Score in the History of Medicine literature (p < 0.05). Conclusion: Sharing research findings of articles in social scientific networks will increase the visibility of scientific works in History of Medicine research, which is one of the most important factors influencing the citation of articles. Additionally, our overview of the literature in the medical field allowed us to identify and examine gaps in the History of Medicine research.

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

OBJECTIVE: Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC) Natural History cohort at year 5 of the study. METHODS: We enrolled individuals with a known or suspected CDG into the FCDGC Natural History Study, a multicenter prospective and retrospective natural history study of all genetic causes of CDG. We conducted a cross-sectional analysis of baseline study visit data from participants with confirmed CDG who were consented into the FCDGC Natural History Study (5U54NS115198) from October 2019 to November 2023. RESULTS: Three hundred thirty-three subjects consented to the FCDGC Natural History Study. Of these, 280 unique individuals had genetic data available that was consistent with a diagnosis of CDG. These 280 individuals were enrolled into the study between October 8, 2019 and November 29, 2023. One hundred forty-one (50.4%) were female, and 139 (49.6%) were male. Mean and median age at enrollment was 10.1 and 6.5 years, respectively, with a range of 0.22 to 71.4 years. The cohort encompassed individuals with disorders of N-linked protein glycosylation (57%), glycosylphosphatidylinositol anchor disorder (GPI anchor) (15%), disorders of Golgi homeostasis, trafficking and transport (12%), dolichol metabolism disorders (5%), disorders of multiple pathways (6%), and other (5%). The most frequent presenting symptom(s) leading to diagnosis were developmental delay/disability (77%), followed by hypotonia (56%) and feeding difficulties (42%). Mean and median time between first related symptom and diagnosis was 2.7 and 0.8 years, respectively. One hundred percent of individuals in our cohort had developmental differences/disabilities at the time of their baseline visit, followed by 97% with neurologic involvement, 91% with gastrointestinal (GI)/liver involvement, and 88% with musculoskeletal involvement. Severity of disease in individuals was scored on the Nijmegen Progression CDG Rating Scale (NPCRS) with 27% of scores categorized as mild, 44% moderate, and 29% severe. Of the individuals with N-linked protein glycosylation defects, 83% of those with data showed a type 1 pattern on carbohydrate deficient transferrin (CDT) analysis including 82/84 individuals with PMM2-CDG, 6% a type 2 pattern, 1% both type 1 and type 2 pattern and 10% a normal or nonspecific pattern. One hundred percent of individuals with Golgi homeostasis and trafficking defects with data showed a type 2 pattern on CDT analysis, while Golgi transport defect showed a type II pattern 73% of the time, a type 1 pattern for 7%, and 20% had a normal or nonspecific pattern. Most of the variants documented were classified as pathogenic or likely pathogenic using ACMG criteria. For the majority of the variants, the predicted molecular consequence was missense followed by nonsense and splice site, and the majority of the diagnoses are inherited in an autosomal recessive pattern but with disorders of all major nuclear inheritance included. DISCUSSION: The FCDGC Natural History Study serves as an important resource to build future research studies, improve clinical care, and prepare for clinical trial readiness. Herein is the first overview of CDG participants of the FCDGC Natural History Study.

Towards an interdisciplinary "science of the mind": A call for enhanced collaboration between philosophy and neuroscience.

In recent decades, the neuroscientific community has moved from describing the neural underpinnings of mental phenomena-as characterized by experimental psychology and philosophy of mind-to attempting to redefine those mental phenomena based on neural findings. Nowadays, many are intrigued by the idea that neuroscience might provide the "missing piece" that would allow philosophers (and, to an extent, psychologists, too) to make important advances, generating new means that these disciplines lack to close knowledge gaps and answer questions like "What is Free Will?" and "Do humans have it?." In this paper, we argue that instead of striving for neuroscience to replace philosophy in the ongoing quest to understanding human thought and behavior, more synergetic relations should be established, where neuroscience does not only inspire philosophy but also draws from it. We claim that such a collaborative coevolution, with the two disciplines nourishing and influencing each other, is key to resolving long-lasting questions that have thus far proved impenetrable for either discipline on its own.

Cervical cerclage: An evolving evidence base.

Cervical cerclage is an established intervention for the management of pregnancies at high risk of preterm birth. Although studies exist to support its use in certain situations, particularly in singleton pregnancies, many questions such as adjunct therapies and efficacy in specific subgroups of high-risk women have not been fully elucidated. This review will assess the current evidence as well as areas where there is currently a paucity of data and an urgent requirement for further research.