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1
Vlassakova, Bistra G. Anesthesia for the Child with Autism Spectrum Disorder. Redaktorzy Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi i Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0063.
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Autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder. Approximately 1% of the world’s population is affected. Patients with ASD have impairment in social interactions and communication and exhibit repetitive and restrictive behaviors and interests. The exact etiology of the condition is unknown, and it is believed to be multifactorial in origin—genetic predisposition and environmental factors have been implicated. Patients with ASD can be highly intelligent or severely developmentally delayed. The wide variety of clinical presentations poses serious challenges to the anesthesiologist. Common clinical manifestations include difficulties with changing daily routines and stereotyped behavior as well as hypersensitivity to light, noise, and unfamiliar people. Patients with ASD are therefore susceptible to behavioral outbursts during the perioperative period. Assuring a smooth perioperative course for this patient population can be achieved by a multidisciplinary team approach and good communication between caregivers and team members.
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Prasad, Supritha, i Edwin H. Cook. Novel Approaches for Treating Pediatric Psychiatric Disorders. Redaktorzy Dennis S. Charney, Eric J. Nestler, Pamela Sklar i Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0067.
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Multifactorial mechanisms, including varying degrees of polygenic risk, contribute to most child onset psychiatric disorders. Methods to better understand the biological impact of inherited low-risk variation are emerging, and these studies may be useful to develop novel treatments for childhood onset psychiatric disorders. In some neurodevelopmental disorders, specifically autism spectrum disorder (ASD) and intellectual disability (ID), recurrent spontaneously mutated genes have been identified. This leads to the current focus on individual, high-risk targets (e.g., SHANK3, FMR1, MECP2, CHD8) for development of novel treatments. This chapter summarizes and begins to compare neurobiological data from several distinct single gene disorders as a means to guide further therapeutic development based on overlapping pathways of interest.
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Pezzini, Alessandro. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198722366.003.0011.
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Ischaemic stroke is a heterogeneous multifactorial disorder. Although epidemiological data from twin and family studies provide substantial evidence for a genetic basis for stroke, the contribution of genetic factors identified so far is small. Large progress has been made in single-gene disorders associated with ischaemic stroke, particularly at young age. By contrast, little is known about the genes associated with multifactorial stroke. The reported genome-wide association studies of ischaemic stroke have shown that no single common genetic variant imparts major risk, but data on early-onset disease are scarce in this regard. Larger studies with samples numbering in the thousands are ongoing to identify common variants with smaller effects on risk. This approach, in addition with new analytic techniques, will likely contribute to the identification of additional genes, novel pathways, and eventually novel therapeutic approaches to cerebrovascular disorders in the near future. The aims of this review are to summarize data on clinical, genetic, and epidemiologic aspects of monogenic conditions associated with juvenile ischaemic stroke, to discuss recent findings and methodological limitations regarding the genetics of sporadic ischaemic stroke in this age category, and to provide a brief overview of the potential future approaches to stroke genetics.
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Timothy, Bishop D., i Sham Pak, red. Analysis of multifactorial disease. Oxford: BIOS, 2000.
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(Editor), T. Bishop, i P. Sham (Editor), red. Analysis of Multifactorial Diseases (Human Molecular Genetics). Academic Press, 2000.
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Giuseffi, Jennifer, John McPherson, Chad Wagner i E. Wesley Ely. Acute cognitive disorders: recognition and management of delirium in the cardiovascular intensive care unit. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199687039.003.0074.
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Delirium is the most common acute cognitive disorder seen in critically ill patients in the cardiovascular intensive care unit. It is defined as a disturbance of consciousness and cognition that develops suddenly and fluctuates over time. Delirious patients can become hyperactive, hypoactive, or both. The occurrence of delirium during hospitalization is associated with increased in-hospital and long-term morbidity and mortality. The cause of delirium is multifactorial and may include imbalances in neurotransmitters, inflammatory mediators, metabolic disturbances, impaired sleep, and the use of sedatives and analgesics. Patients with advanced age, dementia, chronic illness, extensive vascular disease, and low cardiac output are at particular risk of developing delirium. Specialized bedside assessment tools are now available to rapidly diagnose delirium, even in mechanically ventilated patients. Increased awareness of delirium risk factors, in addition to non-pharmacological and pharmacological treatments for delirium, can be effective in reducing the incidence of delirium in cardiac patients and in minimizing adverse outcomes, once delirium occurs.
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McPherson, John, Jennifer Giuseffi, Chad Wagner i E. Wesley Ely. Acute cognitive disorders: recognition and management of delirium in the cardiovascular intensive care unit. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199687039.003.0074_update_001.
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Delirium is the most common acute cognitive disorder seen in critically ill patients in the cardiovascular intensive care unit. It is defined as a disturbance of consciousness and cognition that develops suddenly and fluctuates over time. Delirious patients can become hyperactive, hypoactive, or both. The occurrence of delirium during hospitalization is associated with increased in-hospital and long-term morbidity and mortality. The cause of delirium is multifactorial and may include imbalances in neurotransmitters, inflammatory mediators, metabolic disturbances, impaired sleep, and the use of sedatives and analgesics. Patients with advanced age, dementia, chronic illness, extensive vascular disease, and low cardiac output are at particular risk of developing delirium. Specialized bedside assessment tools are now available to rapidly diagnose delirium, even in mechanically ventilated patients. Increased awareness of delirium risk factors, in addition to non-pharmacological and pharmacological treatments for delirium, can be effective in reducing the incidence of delirium in cardiac patients and in minimizing adverse outcomes, once delirium occurs.
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Cohen, Mary Ann, Anna L. Dickerman i Harold W. Goforth. Distress in Persons with HIV and AIDS. Redaktorzy Mary Ann Cohen, Jack M. Gorman, Jeffrey M. Jacobson, Paul Volberding i Scott Letendre. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199392742.003.0022.
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Persons with HIV have multifactorial and multidimensional sources of distress. Distress has a profoundly negative impact on persons with HIV and their loved ones. While the term distress is more acceptable to patients and does not carry with it the stigma of a specific psychiatric diagnostic disorder, the anguish and suffering associated are still painful. This chapter explores the sources for distress utilizing a comprehensive biopsychosocial approach and presents ways to recognize distress. Related tools in assessing HIV-related distress include the Distress Thermometer (DT), Hospital Anxiety and Depression Scale (HADS), and HIV Symptom Distress Scale (SDS). An overview of the symptoms and illnesses associated with distress include biological, psychological, and social aspects including HIV stigma. Evidence-based approaches to alleviate distress in persons with HIV/AIDS are also presented in the chapter.
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Abbott, Richard. Gait disorders. Redaktorzy Patrick Davey i David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0046.
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Gait problems can arise from a number of different causes ranging from primary neurological to locomotor conditions. Prevalence increases with age, and causation is often multifactorial. Falls are a frequent consequence. This chapter covers the diagnosis of gait disorders and therapies.
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Thomas, David F. M. Disorders of sex development. Redaktor David F. M. Thomas. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0124.
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The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.
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Hans, Steiner, Daniels Whitney, Kelly Michael i Stadler Christina. Etiology of Disruptive Behavior Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190265458.003.0004.
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This chapter discusses the growing data base examining the biological, psychological, and social factors causing disruptive behavior disorders (DBDs). Some of the most intriguing findings are derived from the clinical and preclinical studies of psychopathy, the most extreme and pathological variant of antisocial and aggressive behavior. The existing data are best accommodated in a risk/resilience model informed by developmental psychopathology, rather that a reductionist biological model. The most likely model of causation of DBDs will be multifactorial rather than unifactorial. It is also likely that different syndromes within the DBD grouping will be informed by very different admixtures of biological, psychological, and social factors, which in turn have important implications for effective treatments. The current descriptive diagnoses are inadequate for a sophisticated empirical understanding of DBDs.
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Human Polygenic Diseases: Animal Models. Taylor & Francis, 1998.
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Baumann, Christian R. Sleep after traumatic brain injury. Redaktorzy Sudhansu Chokroverty, Luigi Ferini-Strambi i Christopher Kennard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199682003.003.0032.
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It is becoming increasingly evident that traumatic brain injury (TBI) is a frequent condition causing sleep–wake disorders (SWDs) in more than half of TBI patients. SWDs in TBI includes pleiosomnia (increased sleep need), excessive daytime sleepiness, insomnia symptoms, sleep-related breathing disorders, sleep-related movement disorders, and circadian rhythm disorders. The causes of SWDs in TBI are multifactorial (eg, depression, anxiety, stress, medication-related, pain, genetic background, and possibly trauma-induced brain damage). It is important to perform objective sleep laboratory tests in appropriate cases for optimal treatment of these unfortunate post-traumatic insomnia victims.
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Speed, Cathy, i Andrew Wallace. Injuries to the shoulder. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199533909.003.0024.
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The vast majority of shoulder complaints are due to soft tissue lesions, and rotator cuff disorders represent the largest diagnostic category of these. Many shoulder complaints are multifactorial in origin, and articular and extra-articular disorders can coexist. Instability also plays a major role; the shoulder is the most mobile joint of the body, achieving this mobility at the expense of its stability. Loss of the fine balance between optimal mobility of the joint and its stability is a common, albeit frequently subtle, feature of shoulder complaints....
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Dammeyer, Jesper. Mental Health and Psychosocial Well-Being in Deaf and Hard-of-Hearing Students. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190880545.003.0021.
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This chapter considers two main explanations for the high prevalence of mental disorders among children with congenital deafness. The first is a medical explanation and focuses on the possibility of shared biologic causes for the hearing loss and the associated mental disorders. The second is multifactorial and focuses on interrelated psychological and social factors, in particular the psychosocial impact of a child’s delay in learning language. According to this account, hearing loss risks language delay, which in turn risks delays in social and cognitive development, which in turn increases the risk of mental disorders. The chapter goes on to discuss other risk and protective factors, including deaf identity, type of education, and cochlear implantation, as well as prevention and treatment services and programs.
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Carrero, Juan Jesús, i Peter Stenvinkel. The role of inflammation in chronic kidney disease. Redaktor David J. Goldsmith. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0110.
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Low-grade persistent inflammation is a common feature of chronic kidney disease. This chapter provides an overview of the pathogenesis and clinical consequences of elevated pro-inflammatory cytokines in the uraemic milieu with an emphasis on dialysis stages. It reviews the multifactorial dialysis- and non-dialysis-related causes of inflammation and its purported role in the development of protein energy wasting, vascular calcification, endocrine disorders, and depression. The chapter also discusses the use and the need of monitoring C-reactive protein levels regularly in the clinical setting and comments on possible therapeutic approaches to reduce inflammation in these patients.
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Bullock, Kim, i John J. Barry. Psychiatric Factors. Redaktorzy Barbara A. Dworetzky i Gaston C. Baslet. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190265045.003.0003.
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Psychogenic nonepileptic seizures (PNES) is a multifactorial illness requiring a personalized biopsychosocial (BPS) formulation across the lifespan to understand its causes. This chapter reviews the current evidence focusing on predisposing, precipitating, perpetuating, and prognostic variables (4P’s), merging them into a chronologically based 4P-BPS model. Positive PNES randomized controlled trials suggest that self-efficacy and illness beliefs, avoidance behaviors, trigger sensitization, and comorbid psychiatric disorders are important etiological variables to target during treatment. Epidemiological and neurobiological research suggests that further treatment development focusing on the causal impact of trauma and affect dysregulation is lacking and is warranted going forward. The clinical implications for the evidence to date, as well as recommendations for translating current knowledge into therapeutic behaviors, are discussed.
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Pillai, Jagan A., i James B. Leverenz. Pathogenesis of Lewy Body Dementia. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0020.
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This chapter discusses the Pathogenesis of Lew Body Dementia. The Lewy body dementias (LBDs) are a spectrum of dementing neurodegenerative disorders underpinned by the pathological accumulation of α- synuclein protein in both intraneuronal inclusions, “Lewy bodies, ” and neuronal processes, “Lewy neurites”. The chapter concludes that, as with other forms of cognitive impairment in the aged, the pathophysiology of cognitive impairment in LBD is likely multifactorial. Although it appears that α- synuclein pathology, particularly in the limbic and neocortical regions are linked to cognitive changes, other pathologies such as AD likely also play a role. Emphasizing the complexity, a number of genetic factors have been implicated in the LBDs, some specifically with associations to the synucleinopathies and some with other pathophysiologic processes. This complexity will need to be considered as therapeutic interventions are evaluated for the LBD.
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Paykel, Jacquelyn M. Integrative Treatment of Female Sexual Dysfunction (DRAFT). Redaktor Madeleine M. Castellanos. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190225889.003.0003.
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Sexual satisfaction in women is associated with general well-being. Meanwhile, female sexual dysfunction (FSD) is strongly associated with feelings of physical and emotional dissatisfaction, decreased happiness, reduced quality of life, and impaired interpersonal relationships. While each woman has her own definition of “normal sexual function,” research demonstrates that approximately 40% of US women have experienced sexual difficulties at least once in their life, the most distressing of which across all age groups is decreased sexual desire. The author reviews the Diagnostic and Statistical Manual of Mental Disorders (fifth edition) classification of FSD, differing models of female sexual response, the multifactorial potential of the pathophysiology of FSD, and the standard clinical evaluation of a woman who presents with sexual dysfunction. Treatment modalities are reviewed for various forms of FSD including education, lifestyle modification, psychological therapies, supplements, botanicals, mind-body medicine, manual medicine, conventional medications (hormonal and nonhormonal), and surgical interventions.
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Ryskamp, Daniel A., Elena Popugaeva i Ilya Bezprozvanny. Calcium Hypothesis of Neurodegeneration. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190233563.003.0003.
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Aged-related changes in neuronal physiology and stressors related to specific neurodegenerative diseases collude to undermine neuronal calcium homeostasis, which is a common pathological feature in the initiation and progression of Alzheimer’s disease(AD), Huntington’s disease (HD), Parkinson’s disease, amyotrophic lateral sclerosis, spinocerebellar ataxias, glaucoma, and several other neurodegenerative disorders. Mechanisms of calcium mishandling in these diseases are discussed in this chapter by focusing on HD as an example of a monogenic disease and AD as a multifactorial disease. As aberrant Ca2+ signals are particularly toxic to synaptic elements, this chapter further focuses on issues relevant to development of therapeutics that maintain neuronal circuitry and function through the stabilization of Ca2+ regulation. Ultimately, therapies that promote calcium homeostasis will likely be most effective when used in combination with disease-specific treatment strategies such as elimination of toxic Aβ in AD or polyglutamine expanded Huntingtin protein in HD.
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Thiruchelvam, Nikesh. Benign prostatic hyperplasia. Redaktor Christopher R. Chapple. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0057.
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Male lower urinary tract symptoms (LUTS) has a multifactorial aetiology and is not simply solely due to bladder outflow obstruction (BOO) from benign prostatic hyperplasia (BPH). Other causes of LUTS include bladder dysfunction, malignant prostatic disease, urethral disease, and medical conditions such as polyuria and sleep disorders. In an ageing population, LUTS and BPH will become more common. BOO can only be diagnosed by urodynamic evaluation, although treatment can be started before requiring this invasive investigation. Once considered the only treatment option for BOO, open prostatectomy has been surpassed by TURP and over the past few decades by medical therapy for BPH. α-blockers and 5-α reductase inhibitors improve LUTS and in combination, can reduce the progression of BPH. There are now many competing surgical options for TURP including a variety of laser ablating and enucleating techniques. To date, no one endourological option shows superiority on outcome and complication rates.
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Trinh, Nhi-Ha T., i Justin A. Chen, red. Sociocultural Issues in Psychiatry. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190849986.001.0001.
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This book explains fundamental concepts in cultural psychiatry using a case-based format and is geared toward clinicians and educators in the mental health fields. Whereas similar books have focused on providing guidelines for working clinically with specific populations, such as racial/ethnic or sexual/gender minorities, this book aims to expand the concept of culture as both multifactorial and dynamic, and to enhance knowledge and skills for translating theory into practice across diverse patient populations and clinical contexts. Chapters cover culture as a multidimensional construct; the way cultural issues have been treated in successive editions of the Diagnostic and Statistical Manual of Mental Disorders; global psychiatric epidemiology; social determinants of psychiatric illness; the checkered past of psychiatry as a profession; minority stress theory; explanatory models of mental illness; the roles that religion, spirituality, gender, and sexuality play in the psychiatric encounter; implicit bias; how to respond to patients who request a provider of a specific race or gender; handling cultural challenges; and teaching sociocultural psychiatry across the lifespan. The goal of the book is to educate mental health clinicians at all levels, whether trainees, junior faculty, or senior faculty engaged in lifelong learning.