Police surgeons and victims of rape: cultures of harm and care

Between the late 1960s and the late 1980s, police surgeons found themselves under concerted attack for their treatment of victims of rape and sexual assault. This article explores the tensions they faced between the needs of victims and their legal responsibilities. Should they prioritise care or the collection of evidence? How did they respond to criticism and why were reforms inadequate? I show how institutional structures and ideologies help explain the longevity of cultures of harm within the sub-discipline of police doctors. However, to understand the tenacity of these practices, we need to interrogate more fundamental processes associated with bodily interactions, emotion and language

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults.

Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others are part of the antioxidant machinery. The brain is highly vulnerable to thiamine deficiency due to its heavy reliance on mitochondrial ATP production. This is more evident during rapid growth (i.e., perinatal periods and children) in which thiamine deficiency is commonly associated with either malnutrition or genetic defects. Thiamine deficiency contributes to a number of conditions spanning from mild neurological and psychiatric symptoms (confusion, reduced memory, and sleep disturbances) to severe encephalopathy, ataxia, congestive heart failure, muscle atrophy, and even death. This review discusses the current knowledge on thiamine deficiency and associated morbidity of neurological and psychiatric disorders, with special emphasis on the pediatric population, as well as the putative beneficial effect of thiamine supplementation in autism spectrum disorder (ASD) and other neurological conditions

How to deal with Haplotype data: An Extension to the Conceptual Schema of the Human Genome

[EN] The goal of this work is to describe the advantages of the application of Conceptual Modeling (CM) in complex domains, such as genomics. Nowadays, the study and comprehension of the human genome is a major challenge due to its high level of complexity. The constant evolution in the genomic domain contributes to the generation of ever larger amounts of new data, which means that if we do not manage it correctly data quality could be compromised (i.e., problems related with heterogeneity and inconsistent data). In this paper, we propose the use of a Conceptual Schema of the Human Genome (CSHG), designed to understand and improve our ontological commitment to the domain and also extend (enrich) this schema with the integration of a novel concept: Haplotypes. Our focus is on improving the understanding of the relationship between genotype and phenotype, since new findings show that this question is more complex than was originally thought. Here we present the first steps in our data management approach with haplotypes (variations, frequencies and populations) and discuss the database evolution to support this data. Each new version in our conceptual schema (CS) introduces changes to the underlying database structure that has essential and practical implications for better understanding and managing the relevant information. A solution based on conceptual models gives a clear definition of the domain with direct implications in the medical field (Precision Medicine), in which Genomic Information Systems (GeIS) play a very important role.[ES] El objetivo de este trabajo es describir las ventajas de la aplicación del Modelado Conceptual (MC) en dominios complejos, como la genómica. Hoy en día, el estudio y comprensión del genoma humano es un desafío importante debido a su alto nivel de complejidad. La constante evolución en el dominio genómico contribuye a la generación de grandes cantidades de datos nuevos, lo que significa que, si no lo gestionamos correctamente, la calidad de los mismos podría verse comprometida (por ejemplo: problemas relacionados con la heterogeneidad e inconsistencia de datos). En este trabajo se propone el uso de un Esquema Conceptual del Genoma Humano (ECGH), diseñado para comprender y mejorar nuestro compromiso ontológico con el dominio y extender este esquema con la integración de un nuevo concepto: Haplotipos. Nuestro objetivo es mejorar la comprensión de la relación entre genotipo-y-fenotipo, ya que los nuevos hallazgos muestran que este tema es mucho más complejo de lo que se pensaba originalmente. Aquí presentamos los primeros pasos en nuestro enfoque de gestión de datos haplotípicos (variaciones, frecuencias y poblaciones) y discutimos la evolución de la base de datos para apoyar dichos datos. Cada nueva versión de nuestro esquema conceptual (EC) introduce cambios en la estructura de la base de datos subyacente, que tiene implicaciones esenciales y prácticas con el fin de facilitar una mejor comprensión y gestión de la información relevante. Una solución basada en modelos conceptuales brinda una definición más clara del dominio con implicaciones directas en el campo médico (Medicina de precisión), en la que los Sistemas de Información Genómicos (GeIS) desempeñan un papel muy importante.The authors thanks to the members of the PROS Center Genome group for fruitful discussions. This work has been supported by the Ministry of Higher Education, Science and Technology (MESCyT) of the Dominican Republic, and It also has the support of Generalitat Valenciana through project IDEO (PROMETEOII/2014/039)Reyes Román, JF.; Pastor López, O.; Roldán Martínez, D.; Valverde Giromé, F. (2016). How to deal with Haplotype data: An Extension to the Conceptual Schema of the Human Genome. CLEI Electronic Journal. 19(3):1-21. https://doi.org/10.19153/cleiej.19.3.2S12119

Assessing causal relationships in genomics: From Bradford-Hill criteria to complex gene-environment interactions and directed acyclic graphs

Observational studies of human health and disease (basic, clinical and epidemiological) are vulnerable to methodological problems -such as selection bias and confounding- that make causal inferences problematic. Gene-disease associations are no exception, as they are commonly investigated using observational designs. A rich body of knowledge exists in medicine and epidemiology on the assessment of causal relationships involving personal and environmental causes of disease; it includes seminal causal criteria developed by Austin Bradford Hill and more recently applied directed acyclic graphs (DAGs). However, such knowledge has seldom been applied to assess causal relationships in clinical genetics and genomics, even in studies aimed at making inferences relevant for human health. Conversely, incorporating genetic causal knowledge into clinical and epidemiological causal reasoning is still a largely unexplored area

Episodic neurologic disorders: syndromes, genes, and mechanisms.

Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety. Herein we review what is known of the phenotypes, genetics, and pathophysiology of episodic neurologic disorders. Of these, most are genetically complex, with unknown or polygenic inheritance. In contrast, a fascinating panoply of episodic disorders exhibit Mendelian inheritance. We classify episodic Mendelian disorders according to the primary neuroanatomical location affected: skeletal muscle, cardiac muscle, neuromuscular junction, peripheral nerve, or central nervous system (CNS). Most known Mendelian mutations alter genes that encode membrane-bound ion channels. These mutations cause ion channel dysfunction, which ultimately leads to altered membrane excitability as manifested by episodic disease. Other Mendelian disease genes encode proteins essential for ion channel trafficking or stability. These observations have cemented the channelopathy paradigm, in which episodic disorders are conceptualized as disorders of ion channels. However, we expand on this paradigm to propose that dysfunction at the synaptic and neuronal circuit levels may underlie some episodic neurologic entities

The investigation of acute optic neuritis: a review and proposed protocol

Optic neuritis is an inflammatory optic neuropathy that affects many patients with multiple sclerosis (MS) at some point during their disease course. Differentiation of acute episodes of MS-associated optic neuritis from other autoimmune and inflammatory optic neuropathies is vital for treatment choice and further patient management, but is not always straightforward. Over the past decade, a number of new imaging, laboratory and electrophysiological techniques have entered the clinical arena. To date, however, no consensus guidelines have been devised to specify how and when these techniques can be most rationally applied for the diagnostic work-up of patients with acute optic neuritis. In this article, we review the literature and attempt to formulate a consensus for the investigation of patients with acute optic neuritis, both in standard care and in research with relevance to clinical treatment trials

Management of patients with non-syndromic clefts of the lip and/or palate Part 1:from antenatal diagnosis to primary surgery

Patients with clefts of the lip and/or palate require input from a diverse group of medical, surgical, dental and parasurgical specialties working as part of a multidisciplinary team in the UK. Co-ordinated care ensures that the patient receives optimal treatment whilst minimizing the burden of care for the NHS and family. The primary care dentist has an important role in the overall management of patients with clefts. Because the dentist-patient/parent relationship is of a long-term nature, the primary care dentist can also provide useful support and advice for families as they progress through the care pathway. This three-part article will illustrate the integration of dentistry with the other aspects of care. Clinical Relevance: Dentists should be aware of the different types of cleft lip and/or palate that occur and the role of the dentist in the overall management of patients who have clefts. </jats:p

Tracking Bacterial Spoilage in Cosmetics by a New Bioanalytical Approach: API-SPME-GC-MS to Monitor MVOCs

The main goal of this work was the use of the powerful solid-phase microextraction-gas chromatography-mass spectrometry (SPME-GC-MS) technique to unequivocally identify microbial volatile organic compounds (MVOCs) derived from the enzymatic activity produced during metabolic processes using analytical profile index (API) biochemical tests. Three bacteria were selected for this study: Escherichia coli, Proteus mirabilis, and Pseudomonas aeruginosa. They were inoculated and incubated to both API components and real cosmetics, as well as to a mixture of them. Specific MVOCs were successfully identified as biomarkers for each one of the studied microorganisms: Indole and 2-nitrophenol as Escherichia coli markers, 2-undecanone and phenylethyl alcohol as Proteus mirabilis-specific markers, and 1-undecene and 2′-aminoacetophenone as Pseudomonas aeruginosa ones. In addition, a high number of MVOCs were identified as general markers of bacterial presence. The results revealed that the MVOCs’ formation is highly subtract dependent. Therefore, the ultimate and most challenging objective is to establish a relationship between the identified MVOCs and the original compound present in the substrate. This work establishes the design and development of this original approach, and its practical application to the control of microbial contamination in real cosmetic samplesThis research was funded by project QFashion (IN852A 2016/157, CONECTA-PEME, Xunta de Galicia). The authors belong to the CRETUS Strategic Partnership (ED431E 2018/01). All these programmes are co-funded by FEDER (UE)S