Importância do diagnóstico por imagem em pacientes com sangramento uterino anormal / Importance of diagnostic imaging in patients with abnormal uterine bleeding

O sangramento uterino anormal é diagnóstico sindrômico comum no consultório do ginecologista e pode comprometer substancialmente a qualidade de vida. O objetivo no diagnóstico de sangramento uterino anormal é distinguir pacientes com causas estruturais (anatômicas), como pólipo, adenomiose, leiomioma, malignidade e hiperplasia, de pacientes que apresentam anatomia normal, nas quais o sangramento pode ser devido a alteração dos mecanismos de coagulação, distúrbios ovulatórios, distúrbios primários do endométrio, iatrogenia, ou ter outra causa não classificada. O diagnóstico se inicia a partir de anamnese detalhada e exame físico geral e ginecológico completos, seguidos da solicitação de exames complementares (laboratoriais e de imagem), conforme indicado. O exame de imagem de primeira linha para identificação das causas estruturais inclui a ultrassonografia pélvica. Histerossonografia, histeroscopia, ressonância magnética e amostragem endometrial para exame de anatomia patológica são opções que podem ser incluídas no diagnóstico a depender da necessidade. O objetivo deste artigo é apresentar a relevância dos exames de imagem na investigação das causas de sangramento uterino anormal.

Abnormal uterine bleeding is one of the commonest presenting complaints encountered in a gynecologist's office and may substantially affect quality of life. The aim in the diagnosis of abnormal uterine bleeding is to distinguish women with anatomic causes such as polyp, adenomyosis, leiomyoma, malignancy and hyperplasia from women with normal anatomy where the cause may be coagulopathy, ovulatory disorders, endometrial, iatrogenic and not otherwise classified. Diagnosis begins with a thorough history and physical examination followed by appropriate laboratory and imaging tests as indicated. The primary imaging test for the identification of anatomic causes include ultrasonography. Saline infusion sonohysterography, magnetic resonance, hysteroscopy, endometrial sampling are options that can be included in the diagnosis depending on the need. The aim of this article is to present the relevance of imaging exams in the investigation of the causes of abnormal uterine bleeding.

Novel methodologies using history to document the effects of African American sexual trauma: Perspectives of Gail E. Wyatt, PhD.

This article describes the nearly half a century career of Dr. Gail E. Wyatt, PhD, and her development of novel methodologies and measures of sexual trauma, specifically the Wyatt Sex History Questionnaire and the University of California, Los Angeles, Life Adversities Screener. These approaches broke the silence around experiences of sexual violence, particularly among African Americans, identifying their effects on sexual functioning and mental health. These novel methods are designed without assuming sexual literacy of respondents, knowledge of anatomy, or that discussing sex is easy or common; they include topics that are considered private and may evoke emotions. Trained professionals administering face-to-face interviews can serve to establish rapport and educate the participant or client while minimizing possible discomfort and shame around the disclosure of sexual practices. In this article, four topics are discussed focusing on African Americans, but they may also be relevant to other racial/ethnic groups: (a) breaking the silence about sex, (b) sexual harassment: its disclosure and effects in the workplace, (c) racial discrimination: identifying its effects as a form of trauma, and (d) the cultural relevance of promoting sexual health. Historical patterns of abuse and trauma can no longer be ignored but need to be better understood by psychologists and used to improve policy and treatment standards. Recommendations for advancing the field using novel methods are provided. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Exame físico em ginecologia / Physical examination in gynecology

O exame físico na prática ginecológica diuturna é o sustentáculo de uma perspectiva diagnóstica com vistas a uma abordagem individualizada, oportuna e humanizada da paciente. Lança mão de técnica semiótica clássica, inicialmente, após avaliação de sinais vitais, minuciosa inspeção ectoscópica, seguida de exame físico especial. E deverá ser realizado em ambiente adequadíssimo, sem nenhuma improvisação e ou adaptações não compatíveis, com a importância e a segurança garantidas por um exame físico de boa qualidade. O exame físico de mamas tem como objetivo primordial a identificação de nódulos mamários e, eventualmente, de tumores localmente avançados; e relativa tranquilidade é assegurada às pacientes quando ele é considerado normal. O exame físico vulvar permite a identificação de prolapso de órgãos pélvicos, neoplasia intraepitelial e/ou invasiva vulvar e distúrbios de desenvolvimento sexual, além de oferecer subsídios para a propedêutica da vulvodínea, sendo, principalmente, uma oportunidade para o diagnóstico em dermatologia vulvar, mesmo a vulva correspondendo a apenas 1% da pele feminina. O exame especular, um clássico da ginecologia, é indispensável para a triagem do câncer de colo uterino. Por fim, o toque genital, a despeito de sua subjetividade, permite a avaliação dos órgãos genitais internos.

Physical examination in daytime gynecological practice is the mainstay of a diagnostic perspective with a view to an individualized, timely and humanized approach to the patient; resorting to the classical semiotic technique, initially, after assessing vital signs, a thorough ectoscopic inspection, followed by a special physical examination; which should be carried out in a very suitable environment, without any improvisation or adaptations that are not compatible with the importance and safety guaranteed by a good quality physical examination. The primary objective of the physical examination of the breasts is to identify breast nodules and possibly locally advanced tumors; in addition to relative tranquility, assured to patients, when the respective exam is considered normal. Vulvar physical examination allows the identification of pelvic organ prolapse; vulvar intraepithelial and/or invasive neoplasia; sexual development disorders; in addition to offering subsidies for the propaedeutics of vulvodynia; and, above all, it is an opportunity for diagnosis in vulvar dermatology, even though the vulva accounts for only 1% of female skin. Specular examination, a classic in gynecology, is essential for screening for cervical cancer. Finally, the genital touch which, despite its subjectivity, allows the evaluation of the internal genital organs.

Ictiosis vulgar asociada a síndrome de Ehlers Danlos tipo clásico en una niña / Ichthyosis Vulgaris Associated with Ehlers Danlos Syndrome Classic Type in a Girl

Introducción: La ictiosis vulgar y el síndrome de Ehlers Danlos tipo clásico integran dos genodermatosis que presentan en común un patrón de herencia autosómico dominante, pero muestran manifestaciones clínicas variadas. Es infrecuente encontrar concomitancia de ambas dermatosis en un mismo paciente, y cuando ocurre la heterogeneidad clínica hace complejo el diagnóstico. Objetivo: Exponer un caso que presentó ictiosis vulgar asociada con el síndrome de Ehlers Danlos tipo clásico, en el que el análisis del árbol genealógico contribuyó a orientar el diagnóstico. Presentación del caso: Paciente femenina de 10 años de edad, atendida en la consulta especializada de genodermatosis en Las Tunas. Presentaba, desde edades tempranas, lesiones escamosas localizadas en las piernas y brazos, y que empeoraban durante el invierno. Desde los nueve años comenzó a mostrar luxaciones frecuentes de hombro derecho e hiperextensibilidad de la piel. Constaban antecedentes familiares de piel escamosa en miembros de la familia materna e hipermovilidad articular en varios miembros de la familia paterna: El árbol genealógico contribuyó a orientar el diagnóstico y a realizar la atención médica adecuada. Conclusiones: Se trató un caso interesante porque resulta infrecuente encontrar en un mismo paciente dos enfermedades genéticas, lo cual implicó dificultades en el momento de confirmar el diagnóstico, así como su atención. A este diagnóstico, en el caso de ambas genodermatosis, contribuyó el análisis del árbol genealógico familiar, herramienta fundamental en la determinación de enfermedades genéticas(AU)

Introduction: Ichthyosis vulgaris and Ehlers Danlos syndrome classic type comprise two genodermatoses that share an autosomal dominant pattern of inheritance, but show varied clinical manifestations. It is rare to find concomitance of both dermatoses in the same patient, and when this occurs the clinical heterogeneity makes the diagnosis complex. Objective: To present a case of ichthyosis vulgaris associated with classic Ehlers Danlos syndrome, in which analysis of the family tree helped to guide the diagnosis. Case presentation: 10-year-old female patient seen at the specialised genodermatosis clinic in Las Tunas. She presented, from an early age, with scaly lesions located on the legs and arms, which worsened during the winter. From the age of nine he began to show frequent dislocations of the right shoulder and hyperextensibility of the skin. There was a family history of scaly skin in members of the maternal family and joint hypermobility in several members of the paternal family: the family tree helped to guide the diagnosis and appropriate medical care. Conclusions: This was an interesting case because it is rare to find two genetic diseases in the same patient, which implied difficulties at the time of confirming the diagnosis, as well as its care. The analysis of the family tree, a fundamental tool in the determination of genetic diseases, contributed to this diagnosis in the case of both genodermatoses(AU)

FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?

Family health history (FHH) is a data type serving risk assessment, diagnosis, research, and preventive health. Despite technological leaps in genomic variant detection, FHH remains the most accessible, least expensive, and most practical assessment tool for assessing risks attributable to genetic inheritance. The purpose of this manuscript is to outline a process to assist primary care professionals in choosing FHH digital tools for patient care based on the new ISO/TS 82304-2 Technical Specification (TS), which is a recently developed method to determine eHealth app quality. With a focus on eHealth in primary care, we applied the quality label concept to FHH, and how a primary care physician can quickly review the quality and reliability of an FHH app. Based on our review of the ISO TS's 81 questions, we compiled a list of 25 questions that are recommended to be more succinct as an initial review. We call this process the FHH Quick App Review. Our 'informative-only' 25 questions do not produce a quality score, but a guide to complete an initial review of FHH apps. Most of the questions are straight from the ISO TS, some are modified or de novo. We believe the 25 questions are not only relevant to FHH app reviews but could also serve to aid app development and clinical implementation.

O que estudantes nos contam sobre as entrevistas narrativas / What students tell us about narrative interviews

Romper com o modelo biomédico é necessário, e o ponto inicial pode vir com a compreensão da narrativa do usuário ou da usuária. Este estudo buscou avaliar a compreensão de estudantes de medicina das narrativas de adoecimento, utilizando a entrevista McGillIllness Narrative Interview (MINI). Trata-se de estudo exploratório, descritivo e qualitativo, realizado durante cinco semanas com 11 estudantes do quinto ano de uma universidade privada, no internato de Medicina de Família e Comunidade, que prestavam atendimento a 29 pessoas usuárias de unidades de saúde. Por meio de encontros individuais on-line, foram levantadas questões sobre essa experiência. Os relatos foram inseridos em núcleos argumentais, o que possibilitou o estabelecimento de relações com o referencial teórico da Medicina Narrativa, da Antropologia Médica e da Clínica Ampliada. Para os alunos e alunas houve uma nova experiência de entrevista clínica, uma valorização da narrativa e o desejo de incorporar uma abordagem mais ampliada à sua prática, embora não contemplem incorporar o MINI na sua forma integral, atribuindo a isso dificuldades na rotina médica. Acreditamos que o MINI pode colaborar com a aquisição de competências interpretativa e narrativa em estudantes, embora o ensino esteja ainda, emparte, vinculado ao modelo biomédico.

It is essential to break with the biomedical model. The starting point for that can come from the understanding of patients' narratives. This study sought to evaluate medical students' comprehension of illness narratives using the McGill Illness Narrative Interview (MINI). This is an exploratory, descriptive, and qualitative study, carried out with 11 fifth-year students at a private university in the internship of Family and Community Medicine, for five weeks, involving the care of 29 patients in health units. Through individual online meetings, questions were raised about the experience.The reports were inserted into categories, which allowed us to establish relationships among the theoretical referential elements of Narrative Medicine, Medical Anthropology, and Expanded Clinic. It was a new experience of clinical interviews for the students, with a new appreciation of narratives and a desire to incorporate a more extended approach to their practice, although they do not contemplate incorporating the MINI in its full form due to difficulties in the physician's routine. We believe that MINI can collaborate with the acquisition of interpretative and narrative competence in students, although teaching is still partly linked to the biomedical model.

Serum Orosomucoid Is Associated with Serum Adiponectin, Adipose Tissue Insulin Resistance Index, and a Family History of Type 2 Diabetes in Young Normal Weight Japanese Women.

INTRODUCTION: Adipose tissue (AT) expandability may be facilitated by adiponectin and suppressed by orosomucoid, and reduced AT expandability may be associated with first-degree relatives of type 2 diabetes. We tested the hypothesis that orosomucoid may be associated not only with adiponectin and adipose tissue insulin resistance but also with a family history of type 2 diabetes (FHD). Research Design and Methods. Anthropometric and metabolic variables, adipokines, and measures of inflammatory and insulin resistance were cross-sectionally investigated in 153 young normal weight Japanese women. Stepwise multivariate linear regression analyses were used to identify the most important determinants of orosomucoid. RESULTS: Orosomucoid was higher in women with positive (n = 57) compared to women with negative FHD and was associated positively with FHD (both p = 0.01). Orosomucoid also showed positive associations with fasting glucose (p < 0.001), free fatty acids (p = 0.001), and HbA1c (p = 0.007), whereas there was no association with fasting insulin and serum lipids. In addition, orosomucoid was associated inversely with adiponectin (p = 0.02) and positively with adipose tissue-insulin resistance index (AT-IR, the product of fasting insulin and free fatty acids; p = 0.001) but not with homeostasis model assessment-insulin resistance, leptin, and high-sensitivity C-reactive protein. In multivariate analyses, AT-IR (standardized ß, 0.22; p = 0.003), serum adiponectin (standardized ß, -0.163; p = 0.032), FHD+ (standardized ß, 0.178; p = 0.029), and HbA1c (standardized ß, 0.213; p = 0.005) emerged as independent determinants of orosomucoid and explained 15.2% of its variability. CONCLUSIONS: These results are the first to demonstrate that orosomucoid is associated not only with adipose tissue-insulin resistance and adiponectin but also with FHD.

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record.

INTRODUCTION: Family health history can be a valuable indicator of risk to develop certain cancers. Unfortunately, patient self-reported family history often contains inaccuracies, which might change recommendations for cancer screening. We endeavored to understand the difference between a patient's self-reported family history and their electronic medical record (EMR) family history. One aim of this study was to determine if family history information contained in the EMR differs from patient-reported family history collected using a focused questionnaire. METHODS: We created the Hereditary Cancer Questionnaire (HCQ) based on current guidelines and distributed to 314 patients in the Department of Family Medicine waiting room June 20 to August 1, 2018. The survey queried patients about specific cancers within their biological family to assess their risk of an inherited cancer syndrome. We used the questionnaire responses as a baseline when comparing family histories in the medical record. RESULTS: Agreement between the EMR and the questionnaire data decreased as the patients' risk for familial cancer increased. Meaning that the more significant a patient's family cancer history, the less likely it was to be recorded accurately and consistently in the EMR. Patients with low-risk levels, or fewer instances of cancer in the family, had more consistencies between the EMR and the questionnaire. CONCLUSIONS: Given that physicians often make recommendations on incomplete information that is in the EMR, patients might not receive individualized preventive care based on a more complete family cancer history. This is especially true for individuals with more complicated and significant family history of cancer. An improved method of collecting family history, including increasing patient engagement, may help to decrease this disparity.

Protocolos fonoaudiológicos de história clínica: revisão integrativa / Clinical history speech-language pathology protocols: integrative review

RESUMO Objetivo identificar, coletar e analisar, na literatura científica, evidências da existência de protocolos fonoaudiológicos de levantamento da história clínica, conforme classificação de risco, especialmente para distúrbios oromiofuncionais, em lactentes e pré-escolares. Estratégia de pesquisa foram selecionados estudos publicados, sem delimitação temporal, nas bases de dados eletrônicas LILACS, SciELO e PubMed e na literatura cinza (Google Acadêmico). Critérios de seleção estudos disponíveis na íntegra nas línguas portuguesa e inglesa, que identificassem protocolos fonoaudiológicos de história clínica aplicáveis a lactentes (6 a 23 meses de vida) e pré-escolares (24 a 71 meses de vida). Foram excluídas as revisões narrativas e de literatura (integrativa, sistêmica e escopo). Resultados foram encontradas 1371 publicações brasileiras no período de 1980 a 2022. Destas, foram identificadas apenas cinco que tratavam de protocolos fonoaudiológicos para levantamento de dados pregressos a partir da história clínica da faixa etária de 6 a 71 meses. Apenas um desses protocolos possuía classificação de risco para distúrbios fonoaudiológicos, distribuídos na área de linguagem e fluência. Os outros três eram da área de motricidade orofacial (MO) e não continham classificação de risco para distúrbio miofuncional orofacial. Conclusão existem poucos protocolos fonoaudiológicos para levantamento da história clínica de lactentes e pré-escolares que contenham, ou não, classificação de risco, publicados em revistas de acesso aberto e que passaram por processos completos de validação, sendo necessário ampliar estudos e publicações desses instrumentos, inclusive na área de MO.

ABSTRACT Purpose to identify, collect and analyze in the scientific literature evidence of the existence of speech therapy protocols for collecting clinical history, according to risk classification, especially for oromyofunctional disorders, in infants and preschoolers. Research Strategy We selected published studies, without temporal delimitation, in the electronic databases LILACS, SciELO and PUBMED; and in the gray literature (Google Academic). Selection criteria available in full in Portuguese and English, which identify speech-language pathology protocols of clinical history applicable to infants (6 to 23 months of age) and preschoolers (24 to 71 months of age). Narrative and literature reviews (integrative, systemic, and scope) were excluded. Results 1371 Brazilian publications were found in the period from 1980 to 2022. Of these, only five publications on speech therapy protocols were identified for collecting previous data from the clinical history of the age group between 6 and 71 months. Only two of these protocols have a risk classification for speech-language disorders, distributed in the areas of language and fluency. The other three are from the Orofacial Motricity (OM) area and do not carry a risk classification for orofacial myofunctional disorder. Conclusion There are few speech therapy protocols for surveying the clinical history of infants and preschoolers, whether or not they contain risk classification, published in open access journals that have a complete validation process.Therefore there is a need for more research and publication of these instruments, including in the area of OM.

Increased Oxidative Stress in Gastric Cancer Patients and Their First-Degree Relatives: A Prospective Study from Northeastern Brazil.

BACKGROUND AND AIMS: First-degree relatives of gastric cancer patients are at increased risk of developing gastric cancer. Increased oxidative stress, including lipid peroxidation, has been associated with gastric carcinogenesis. Whether first-degree relatives of gastric cancer patients have increased oxidative stress remains unknown. We aimed to compare oxidative stress in patients with gastric cancer, their first-degree relatives, and dyspeptic controls. METHODS: A total of 155 patients undergoing upper endoscopy were prospectively enrolled, including 50 with gastric cancer, 49 first-degree relatives of gastric cancer patients, and 56 controls. Serum concentrations of malondialdehyde (MDA) and glutathione) and activities of superoxide dismutase (SOD) and catalase were measured. Multivariate analysis adjusting for sex, age, smoking status, and alcohol consumption was performed. RESULTS: Lipid peroxidation, as measured by concentration of MDA (nmol/mL), was higher (p = 0.04), and glutathione levels were lower (p < 0.001) in the gastric cancer group compared to controls. There was no difference in the catalase activity among the groups. There was no difference in glutathione and MDA concentration or catalase activity between the different stages of gastric cancer based on the TNM classification. Relatives of gastric cancer patients had higher glutathione concentration (µmol/mL) compared to gastric cancer patients (262.5 vs. 144.6; p = 0.018), while there was no difference in MDA concentration. Catalase and superoxide dismutase activity were lower in the gastric cancer group (3.82 vs. 0.91; p < 0.001 and 1.04 vs. 0.6; p < 0.001) compared to their first-degree relatives. Interestingly, MDA concentration in the first-degree relative group was higher than in the control group (7.9 vs. 5.1; p = 0.03). CONCLUSIONS: In this study, similarly to gastric cancer patients, their first-degree relatives were found to have increased oxidative stress compared to controls. Further studies are warranted to validate this observation and to better understand the role of oxidative stress as a possible biomarker in this population.

Diabetes gestacional: necesidad del asesoramiento genético preconcepcional en Matanzas / Gestational diabetes: need for preconception genetic counseling in Matanzas

RESUMEN Introducción: muchas gestantes que se atienden en consulta de Genética prenatal provienen de familias con diabetes mellitus y desarrollan diabetes gestacional, por lo que requieren el asesoramiento genético preconcepcional sobre factores de riesgo, que en muchos casos no reciben. Objetivo: identificar los antecedentes familiares de diabetes mellitus en las gestantes que debutan con diabetes gestacional, sin haber tenido asesoramiento genético preconcepcional. Materiales y métodos: se realizó un estudio descriptivo retrospectivo durante el período 2017 a 2019 en 186 embarazadas diagnosticadas con diabetes gestacional, del municipio Matanzas. Resultados: el 39,7 % de las gestantes con diabetes gestacional pertenecían a familias con diabetes mellitus; el 27,02 % tenía un familiar de primer grado afectado; en el 59,45 % predominó la vía materna de transmisión hereditaria; un 22,58 % presentó defectos congénitos, y el 54,05 % no recibió asesoramiento genético preconcepcional. Conclusiones: no todas las embarazadas con antecedentes familiares de diabetes mellitus recibieron asesoramiento genético preconcepcional, indispensable para minimizar el riesgo de diabetes gestacional (AU).

ABSTRACT Introduction: many pregnant women attended in prenatal genetic consultation come from families with diabetes mellitus and develop gestational diabetes, so they require preconception genetic counseling on risk factors, which they do not receive in many cases. Objective: to identify family antecedents of diabetes mellitus in pregnant women who debut with gestational diabetes, without having received preconceptional genetic counseling. Materials and methods: a retrospective descriptive study was carried out during the period 2017 to 2019 in 186 pregnant women from the municipality of Matanzas, diagnosed with gestational diabetes. Results: 39.7 % of the pregnant with gestational diabetes came from families with diabetes mellitus; 27.02 % of them had an affected first-grade relative; maternal hereditary transmission predominated in 59.45 %; 22.58 % presented congenital defects, and 54.05 % did not received preconceptional genetic counseling. Conclusions: not all the pregnant women with family antecedents of diabetes mellitus received preconceptional genetic counseling, which is essential to minimize the risk of gestational diabetes (AU).

Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.

OBJECTIVE: To examine user uptake and experience with a clinical chatbot that automates hereditary cancer risk triage by collecting personal and family cancer history in routine women's health care settings. METHODS: We conducted a multicenter, retrospective observational study of patients who used a web-based chatbot before routine care appointments to assess their risk for hereditary breast and ovarian cancer, Lynch syndrome, and adenomatous polyposis syndromes. Outcome measures included uptake and completion of the risk-assessment and educational section of the chatbot interaction and identification of hereditary cancer risk as evaluated against National Comprehensive Cancer Network criteria. RESULTS: Of the 95,166 patients invited, 61,070 (64.2%) engaged with the clinical chatbot. The vast majority completed the cancer risk assessment (89.4%), and most completed the genetic testing education section (71.4%), indicating high acceptability among those who opted to engage. The mean duration of use was 15.4 minutes (SD 2 hours, 56.2 minutes) when gaps of inactivity longer than 5 minutes were excluded. A personal history of cancer was reported by 19.1% (10,849/56,656) and a family history of cancer was reported by 66.7% (36,469/54,652) of patients who provided the relevant information. One in four patients (14,850/54,547) screened with the chatbot before routine care appointments met National Comprehensive Cancer Network criteria for genetic testing. Among those who were tested, 5.6% (73/1,313) had a disease-causing pathogenic variant. CONCLUSION: A chatbot digital health tool can help identify patients at high risk for hereditary cancer syndromes before routine care appointments. This scalable intervention can effectively provide cancer risk assessment, engage patients with educational information, and facilitate a path toward preventive genetic testing. FUNDING SOURCE: Implementation of the chatbot in clinics was funded by industry support from commercial genetic testing laboratories Ambry, Invitae, and Progenity.

Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies.

The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies. They usually begin in infancy or childhood with drug-resistant seizures, epileptiform EEG patterns, developmental slowing or regression, and cognitive impairment. DEEs have a high mortality and profound morbidity; comorbidities are common including autism spectrum disorders. With advances in genetic sequencing, over 400 genes have been implicated in DEEs, with a genetic cause now identified in over 50% patients. Each genetic DEE typically has a broad genotypic-phenotypic spectrum, based on the underlying pathophysiology. There is a pressing need to improve health outcomes by developing novel targeted therapies for specific genetic DEE phenotypes that not only improve seizure control, but also developmental outcomes and comorbidities. Clinical trial readiness relies firstly on a deep understanding of phenotype-genotype correlation and evolution of a condition over time, in order to select appropriate patients for clinical trials. Understanding the natural history of the disorder informs assessment of treatment efficacy in terms of both clinical outcome and biomarker utility. Natural history studies (NHS) provide a high quality, integrated, comprehensive approach to understanding a complex disease and underpin clinical trial design for novel therapies. NHS are pre-planned observational studies designed to track the course of a disease and identify demographic, genetic, environmental, and other variables, including biomarkers, that correlate with the disease's evolution and outcomes. Due to the rarity of individual genetic DEEs, appropriately funded high-quality DEE NHS will be required, with sustainable frameworks and equitable access to affected individuals globally.

Do We Know Where They Go? Obtaining Travel History in Pediatric Patients.

OBJECTIVE: To determine how often travel histories are obtained in pediatric patients. METHODS: A retrospective medical record review was performed at a single tertiary care children's hospital for patients aged 2 months to 18 years who were admitted October 2015-December 2017 with International Classification of Diseases, 10th Revision codes for potential travel-related illnesses. Demographic information and travel history documentation were obtained, along with travel-related testing. From May to June 2018, prospective, single-blinded, direct observation of a convenience sample of pediatric residents was performed during the initial patient encounter to determine the frequency and quality of travel histories obtained regardless of documentation. RESULTS: Of 249 charts reviewed, 27 (10.8%) patients had a travel history query documented. Patients with complex chronic conditions were significantly less likely to have a travel history documented (37% vs 67%; P = 0.005). Age, sex, length of stay, race, payer status, and critical care admission did not significantly differ between groups. Those with a travel history documented were more likely to have a documented exposure history (100% vs 52%; P < 0.001) and additional testing performed (56% vs 13%, P < 0.001). During this time, a simulation course with residents featuring travel-related diagnoses led to a significant increase in documented travel histories (5% prior versus 21% after, P = 0.03). A total of 37 patient encounters were observed; travel history was asked for 4 times (4/37, 10.8%). CONCLUSIONS: Travel histories are rarely asked for in pediatric patients. Missed diagnoses may not only affect the patient but also have broader public health implications. Simulation is an effective tool to improve history-taking skills, yet more work is still needed.

[Step by step - A diagnostic approach to bleeding disorders]. / Abklärung erhöhter Blutungsneigung ­ Schritt für Schritt.

The main symptom of hemorrhagic diathesis is an increased bleeding tendency. Due to the subjectivity of various features of the bleeding history, unclarity of the family history, and an individualization of the extent of diagnostic the evaluation of a suspected bleeding disorder represents a challenging endeavour in hematology. Hemorrhagic diathesis can be divided into the following sub-categories: disorders in primary hemostasis (e. g. von Willebrand disease, different causes of thrombocytopenia), secondary hemostasis (e. g. hemophilia A and B, Vitamin K deficiency) and fibrinolysis, and in connective tissue or vascular formation. This article reviews available diagnostic methods for bleeding disorders, from structured patient history to highly specialized laboratory diagnosis.

Computerized history-taking improves data quality for clinical decision-making-Comparison of EHR and computer-acquired history data in patients with chest pain.

Patients' medical histories are the salient dataset for diagnosis. Prior work shows consistently, however, that medical history-taking by physicians generally is incomplete and not accurate. Such findings suggest that methods to improve the completeness and accuracy of medical history data could have clinical value. We address this issue with expert system software to enable automated history-taking by computers interacting directly with patients, i.e. computerized history-taking (CHT). Here we compare the completeness and accuracy of medical history data collected and recorded by physicians in electronic health records (EHR) with data collected by CHT for patients presenting to an emergency room with acute chest pain. Physician history-taking and CHT occurred at the same ED visit for all patients. CHT almost always preceded examination by a physician. Data fields analyzed were relevant to the differential diagnosis of chest pain and comprised information obtainable only by interviewing patients. Measures of data quality were completeness and consistency of negative and positive findings in EHR as compared with CHT datasets. Data significant for the differential of chest pain was missing randomly in all EHRs across all data items analyzed so that the dimensionality of EHR data was limited. CHT files were near complete for all data elements reviewed. Separate from the incompleteness of EHR data, there were frequent factual inconsistencies between EHR and CHT data across all data elements. EHR data did not contain representations of symptoms that were consistent with those reported by patients during CHT. Trial registration: This study is registered at https://www.clinicaltrials.gov (unique identifier: NCT03439449).