Memoirs by the 2012 recipient of the Bruce Alberts Award for Excellence in Science Education from the American Society for Cell Biology about the establishment of the International Institute for Collaborative Cell Biology and Biochemistry, which wants to inspire a new era of international scientific cooperation by exposing scientists to diverse learning experiences.
I was invited to write this essay on the occasion of my selection as the recipient of the 2012 Bruce Alberts Award for Excellence in Science Education from the American Society for Cell Biology (ASCB). Receiving this award is an enormous honor. When I read the email announcement for the first time, it was more than a surprise to me, it was unbelievable. I joined ASCB in 1996, when I presented a poster and received a travel award. Since then, I have attended almost every ASCB meeting. I will try to use this essay to share with readers one of the best experiences in my life. Because this is an essay, I take the liberty of mixing some of my thoughts with data in a way that it not usual in scientific writing. I hope that this sacrifice of the format will achieve the goal of conveying what I have learned over the past 20 yr, during which time a group of colleagues and friends created a nexus of knowledge and wisdom. We have worked together to build a network capable of sharing and inspiring science all over the world.
Ethnic minority (EM) medical students and doctors underperform academically, but little evidence exists on how to ameliorate the problem. Psychologists Cohen et al. recently demonstrated that a written self-affirmation intervention substantially improved EM adolescents' school grades several months later. Cohen et al.'s methods were replicated in the different setting of UK undergraduate medical education.
All 348 Year 3 white (W) and EM students at one UK medical school were randomly allocated to an intervention condition (writing about one's own values) or a control condition (writing about another's values), via their tutor group. Students and assessors were blind to the existence of the study. Group comparisons on post-intervention written and OSCE (clinical) assessment scores adjusted for baseline written assessment scores were made using two-way analysis of covariance. All assessment scores were transformed to z-scores (mean = 0 standard deviation = 1) for ease of comparison. Comparisons between types of words used in essays were calculated using t-tests. The study was covered by University Ethics Committee guidelines.
Groups were statistically identical at baseline on demographic and psychological factors, and analysis was by intention to treat [intervention group EM n = 95, W n = 79; control group EM n = 77; W n = 84]. As predicted, there was a significant ethnicity by intervention interaction [F(4,334) = 5.74; p = 0.017] on the written assessment. Unexpectedly, this was due to decreased scores in the W intervention group [mean difference = 0.283; (95% CI = 0.093 to 0.474] not improved EM intervention group scores [mean difference = -0.060 (95% CI = -0.268 to 0.148)]. On the OSCE, both W and EM intervention groups outperformed controls [mean difference = 0.261; (95%CI = -0.047 to -0.476; p = 0.013)]. The intervention group used more optimistic words (p < 0.001) and more "I" and "self" pronouns in their essays (p < 0.001), whereas the control group used more "other" pronouns (p < 0.001) and more negations (p < 0.001).
Cohen et al.'s finding that a brief self-affirmation task narrowed the ethnic academic achievement gap was replicated on the written assessment but against expectations, this was due to reduced performance in the W group. On the OSCE, the intervention improved performance in both W and EM groups. In the intervention condition, participants tended to write about themselves and used more optimistic words than in the control group, indicating the task was completed as requested. The study shows that minimal interventions can have substantial educational outcomes several months later, which has implications for the multitude of seemingly trivial changes in teaching that are made on an everyday basis, whose consequences are never formally assessed.
To be the recipient of the E. E. Just Award for 2014 is one of my greatest honors, as this is a truly rarefied group. In this essay, I try to trace my path to becoming a scientist to illustrate that multiple paths can lead to science. I also highlight that I did not build my career alone. Rather, I had help from many and have tried to pay it forward. Finally, as the country marches toward a minority majority, I echo the comments of previous E. E. Just Award recipients on the state of underrepresented minorities in science.
I am honored to receive the E. E. Just Award for 2010. In my invited essay, I have opted to discuss the state of diversity in the biological sciences with some recommendations for moving forward toward a more positive and inclusive academy. The need to develop cohorts of minority scientists as support groups and to serve as role models within our institutions is stressed, along with the need to ensure that minority scientists are truly included in all aspects of the academy. It is imperative that we increase our efforts to prepare for the unique challenges that we will face as the United States approaches a “majority minority” population in the next 50 years.
The complete sequencing of the human genome introduced a new knowledge base for decoding information structured in DNA sequence variation. My research is predicated on the supposition that the genome is the most sophisticated knowledge system known, as evidenced by the exquisite information it encodes on biochemical pathways and molecular processes underlying the biology of health and disease. Also, as a living legacy of human origins, migrations, adaptations, and identity, the genome communicates through the complexity of sequence variation expressed in population diversity. As a biomedical research scientist and academician, a question I am often asked is: “How is it that a black woman like you went to the University of Michigan for a PhD in Human Genetics?” As the ASCB 2012 E. E. Just Lecturer, I am honored and privileged to respond to this question in this essay on the science of the human genome and my career perspectives.
In an intriguing essay, G. A. Cohen has defended a conservative bias in favour of existing value. In this paper, we consider whether Cohen’s conservatism raises a new challenge to the use of human enhancement technologies. We develop some of Cohen’s suggestive remarks into a new line of argument against human enhancement that, we believe, is in several ways superior to existing objections. However, we shall argue that on closer inspection, Cohen’s conservatism fails to offer grounds for a strong sweeping objection to enhancement, and may even offer positive support for forms of enhancement that preserve valuable features of human beings. Nevertheless, we concede that Cohen’s arguments may suggest some plausible and important constraints on the modality of legitimate and desirable enhancements.
G. A. Cohen; Conservatism; Enhancement; Value
The power of the genome wide association studies starts to go down when the minor allele frequency (MAF) is below 0.05. Here, we proposed the use of Cohen’s h in detecting disease associated rare variants. The variance stabilizing effect based on the arcsine square root transformation of MAFs to generate Cohen’s h contributed to the statistical power for rare variants analysis. We re-analyzed published datasets, one microarray and one sequencing based, and used simulation to compare the performance of Cohen’s h with the risk difference (RD) and odds ratio (OR).
The analysis showed that the type 1 error rate of Cohen’s h was as expected and Cohen’s h and RD were both less biased and had higher power than OR. The advantage of Cohen’s h was more obvious when MAF was less than 0.01.
Cohen’s h can increase the power to find genetic association of rare variants and diseases, especially when MAF is less than 0.01.
Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-875) contains supplementary material, which is available to authorized users.
Effect size; Cohen’s h; Odds ratio; Power; Rare variant
Space-time integration has long been the topic of study and speculation
in geography. However, in recent years an entirely new form of space-time
integration has become possible in GIS and GIScience: real-time
space-time integration and interaction. While real-time
spatiotemporal data is now being generated almost ubiquitously, and its
applications in research and commerce are widespread and rapidly accelerating,
the ability to continuously create and interact with fused space-time data in
geography and GIScience is a recent phenomenon, made possible by the invention
and development of real-time interactive (RTI) GPS/GIS technology and
functionality in the late 1980s and early 1990s. This innovation has since
functioned as a core change agent in geography, cartography, GIScience and many
related fields, profoundly realigning traditional relationships and structures,
expanding research horizons, and transforming the ways geographic data is now
collected, mapped, modeled, and used, both in geography and in science and
society more broadly. Real-time space-time interactive functionality remains
today the underlying process generating the current explosion of fused
spatiotemporal data, new geographic research initiatives, and myriad geospatial
applications in governments, businesses, and society. This essay addresses
briefly the development of these real-time space-time functions and
capabilities; their impact on geography, cartography, and GIScience; and some
implications for how discovery and change can occur in geography and GIScience,
and how we might foster continued innovation in these fields.
GIScience; GPS/GIS; Real-time Space-time; Spatiotemporal; Philosophy of Science; Geographic Management Systems
A discriminant analysis was conducted to investigate how an essay, a mathematics/science type of essay, a college scholastic ability test, and grade point average affect acceptance to a pre-med course at a Korean medical school. Subjects included 122 and 385 applicants for, respectively, early and regular admission to a medical school in Korea. The early admission examination was conducted in October 2007, and the regular admission examination was conducted in January 2008. The analysis of early admission data revealed significant F values for the mathematics/science type of essay (51.64; P<0.0001) and for grade point average (10.66; P=0.0014). The analysis of regular admission data revealed the following F values: 28.81 (P<0.0001) for grade point average, 27.47 (P<0.0001) for college scholastic ability test, 10.67 (P=0.0012) for the essay, and 216.74 (P<0.0001) for the mathematics/science type of essay. Since the mathematics/science type of essay had a strong effect on acceptance, an emphasis on this requirement and exclusion of other kinds of essays would be effective in subsequent entrance examinations for this premed course.
College Scholastic Ability Test; Entrance Examination; Essay; General Point Average; Mathematics/Science; Medical School
Insulin resistance is a hallmark of type 2 diabetes mellitus and is associated with a metabolic and cardiovascular cluster of disorders (dyslipidaemia, hypertension, obesity [especially visceral], glucose intolerance, endothelial dysfunction), each of which is an independent risk factor for cardiovascular disease (CVD). Multiple prospective studies have documented an association between insulin resistance and accelerated CVD in patients with type 2 diabetes, as well as in non-diabetic individuals. The molecular causes of insulin resistance, i.e. impaired insulin signalling through the phosphoinositol-3 kinase pathway with intact signalling through the mitogen-activated protein kinase pathway, are responsible for the impairment in insulin-stimulated glucose metabolism and contribute to the accelerated rate of CVD in type 2 diabetes patients. The current epidemic of diabetes is being driven by the obesity epidemic, which represents a state of tissue fat overload. Accumulation of toxic lipid metabolites (fatty acyl CoA, diacylglycerol, ceramide) in muscle, liver, adipocytes, beta cells and arterial tissues contributes to insulin resistance, beta cell dysfunction and accelerated atherosclerosis, respectively, in type 2 diabetes. Treatment with thiazolidinediones mobilises fat out of tissues, leading to enhanced insulin sensitivity, improved beta cell function and decreased atherogenesis. Insulin resistance and lipotoxicity represent the missing links (beyond the classical cardiovascular risk factors) that help explain the accelerated rate of CVD in type 2 diabetic patients.
Cardiovascular disease; Endothelial dysfunction; Insulin resistance; Insulin signalling; Lipotoxicity; Obesity; Review; Type 2 diabetes
Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex.
We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years.
Flow cytometry of the patient's platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of patient's platelets demonstrated very faint staining of GPIX. A novel homozygous deletion comprising 11 nucleotides starting at position 1644 of the GPIX gene was identified using molecular genetic analysis.
The novel 11-nucleotide deletion (g.1644_1654del11) was identified as causing the bleeding disorder in the BSS patient. This homozygous deletion includes the last 4 nucleotides of the Kozak sequence as well as the start codon and the following 4 nucleotides of the coding sequence. The Kozak sequence is a region indispensable for the initiation of the protein translation process, thus preventing synthesis of functional GPIX protein in the case of deletion.
Bernard-Soulier syndrome; Bleeding complications; Thrombocytopenia; Platelet glycoprotein Ib/IX; Genetic abnormalities; Flow cytometry; Novel deletion
This article explores the status, apparatus and character of forensic pathology in the inter-war period, with a special emphasis on the ‘people’s pathologist’, Bernard Spilsbury. The broad expert and public profile of forensic pathology, of which Spilsbury was the most prominent contemporary representative, will be outlined and discussed. In so doing, close attention will be paid to the courtroom strategies by which he and other experts translated their isolated post-mortem encounters with the dead body into effective testimony.
Pathologists built a high-profile practice that transfixed the popular, legal and scientific imagination, and this article also explores, through the celebrated 1925 murder trial of Norman Thorne, how Spilsbury’s courtroom performance focused critical attention on the practices of pathology itself, which threatened to destabilise the status of forensic pathology. In particular, the Thorne case raised questions about the interrelation between bruising and putrefaction as sources of interpretative anxiety. Here, the question of practice is vital, especially in understanding how Spilsbury’s findings clashed with those of rival pathologists whose autopsies centred on a corpse that had undergone further putrefactive changes and that had thereby mutated as an evidentiary object. Examining how pathologists dealt with interpretative problems raised by the instability of their core investigative object enables an analysis of the ways in which pathological investigation of homicide was inflected with a series of conceptual, professional and cultural difficulties stemming in significant ways from the materiality of the corpse itself.
This article presents early findings of a larger study of twentieth-century English homicide investigation which focuses on the interaction between two dominant forensic regimes: the first, outlined in part here, is a body-centred forensics, associated with the lone, ‘celebrity’ pathologist, his scalpel and the mortuary slab; the second is a ‘forensics of things’ centred on the laboratory and its associated technologies of trace analysis (hair, blood, fibres), deployed in closed technician-dominated spaces and in the regimentally managed crime scene. Future work will seek to illuminate the shifting landscape of English forensics by following the historical interplay between these two powerful investigative models.
Forensic Pathology; Homicide Investigation; Expert Testimony; Post-mortem Examination; Bruising; Decomposition; Exhumation; Bernard Spilsbury
In the present paper the evidence for Field Marshal Montgomery having Asperger's syndrome is examined. Biographies of Montgomery were examined to search for evidence that he met criteria for Asperger's syndrome - Gillberg (1991) and Asperger's disorder (APA.1994) and Anankastic personality disorder (WHO,1992). He demonstrates a qualitative impairment in social interaction and restricted repetitive and stereotyped patterns of behaviour, interests and activities. It can be concluded that he met criteria for Asperger's disorder DSM-IV (APA.1994).
Montgomery; asperger's disorder
The association of unilateral trochlear nerve palsy with Claude Bernard-Horner syndrome represents a rare clinical condition. We present the case of a patient with this unusual presentation. The investigation performed implicated cerebrovascular disease as the underlying cause of the condition in this patient.
Trochlear nerve; Claude Bernard-Horner syndrome; Ocular palsy; Stroke
Because there are numerous methods for reconstruction of the lower lip, it is not easy to choose the optimal method. In choosing the surgical method for lower lip reconstruction, we obtained acceptable outcomes based on our treatment strategy, which included either a barrel-shaped excision or the Webster modification of the Bernard operation. We report on the surgical outcomes based on our treatment strategy.
This study included 26 patients who underwent lower lip reconstructive surgery from September 1996 to September 2010. The operation was done using either a barrel-shaped excision or the Webster modification, considering the location of the defect, the size of the defect, and the amount of residual tissue on the lateral side of the vermilion after excision.
In our series, 3 patients underwent a single barrel-shaped excision, and nine patients underwent a double barrel-shaped excision. In addition, the unilateral Webster modification was performed on in 6 patients, and there were eight cases of bilateral Webster modification. All of the patients except one were satisfied with the postoperative shape of the lip. In one case both recurrence and dehiscence occurred. One patient had a good postoperative lip shape, but had difficulty wearing a denture, and also underwent commissuroplasty. Furthermore, there were two patients who complained of drooling, and 4 with paresthesia.
A soft tissue defect resulting from wide excision of a lower lip malignancy can be successfully reconstructed using only one of two surgical methods: the barrel-shaped excision or the Webster modification of the Bernard operation.
Lip; Facial neoplasms; Reconstructive surgical procedures
Dermoid sinus, a congenital malformation of neural tube development, has been reported in humans and several animal species including dogs. It is typically found in the dorsal midline and commonly occurs in the Rhodesian Ridgeback breed. A case of multiple dermoid sinuses in the fronto-occipital region is described. An 11-month-old, intact female Saint Bernard dog was presented with a 2 day history of discharge from a large irregular subcutaneous mass in the fronto-occipital region. The dog was otherwise healthy. The dog had two circular skin lesions (approximately 4 × 4 and 4 × 2 cm diameter) surrounded by multiple irregular elevated masses. The masses had multiple small openings on the skin surface with tufts of hair protruding from the apertures. The masses were surgically removed, and the diagnosis of multiple dermoid sinuses was confirmed by histological examination. Histopathological examination showed multiple, variably sized, spherical to tubular cysts expanding the dermis and subcutis. Cysts were filled with hair shafts and lamellar keratin and were lined by a stratified squamous epithelium. Sebaceous and apocrine gland adnexal structures were also observed. To the best of our knowledge, this is the first reported case of multiple dermoid sinuses of two different types in the head of a Saint Bernard dog.
Dermoid sinus; Fronto-occipital region; Saint Bernard dog