bluuebunny/crossref_metadata_2025 huggingface dataset:
Noonan Syndrome
Authors: Wingbermüuhle Ellen , van der Burgt Ineke
Published: November 2020

Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994). In approximately 50% of the patients with definite NS, a missense mutation is found in the PTPN11 gene on chromosome 12. PTPN11 is one of the genes of the Ras-MAPK pathway, a signal transduction cascade that has been studied extensively for its role in human oncogenesis. The signaling cascade regulates cell proliferation, differentiation, and survival. PTPN11 encodes the nonreceptor protein tyrosine phosphatase SHP-2. The mutations associated with NS result in a gain of function of SHP-2 (Tartaglia and Gelb 2005). Recently, activating mutations in other genes of the Ras-MAPK pathway (SOS1, KRAS, RAF1) were found as the causative dominant mutations in NS. These findings establish hyperactive Ras as a cause of the developmental abnormalities seen in NS (Schubbert et al. 2007). The diagnosis is made on clinical grounds, by observation of key features. Establishing the diagnosis can be very difficult, especially at an older age. There is great variability in expression, and mild expression is likely to be overlooked. Improvement of the phenotype occurs with increasing age. The age-related change of facial appearance can be subtle, especially at older age. Several scoring systems have been devised to guide the diagnostic process). The most recent scoring system was developed in 1994 (Van der Burgt et al. 1994). The incidence of NS is estimated to be between 1:1,000 and 1:2,500 live births (Mendez and Opitz 1985). Further details on the various medical aspects of NS (e.g., congenital heart defects, skeletal and urethrogenital abnormalities, growth delay) can be found in Van der Burgt (2007). A number of conditions have phenotypes strikingly similar to NS. The first is Turner syndrome (45, X0), a well-known chromosomal abnormality in girls. A group of distinct syndromes with partially overlapping phenotypes also exist in which causative mutations are also found in genes of the RAS-MAPK pathway.
Williams Syndrome
Authors: Reilly Judy , Lai Philip
Published: November 2020

Williams syndrome (WS) is a rare neurodevelopmental genetic disorder stemming from a hemizygous deletion of about 20–28 genes from chromosome band 7.11.23q (Ewart et al. 1993) including the gene for elastin. Early estimates of incidence proposed 1 in 20,000 live births (Greenberg 1989), but current estimates are 1 in 7,500 (Stromme, Bjornstad, and Ramstad 2002). Williams syndrome was first recognized by a pediatrician, Dr. JCP Williams in 1961, who described a group of children with “elfin facies” and supravalvular aortic stenosis (Williams, Barratt-Boyes, and Lowe 1961). Shortly thereafter, Dr. Alois Beuren (1962) identified another group of children with similar features, including an intolerance to calcium. As such, this syndrome has also been called Williams-Beuren syndrome or infantile hypercalcemia. The early descriptions of children and adolescents with WS noted a set of characteristic facial and behavioral features: “an unusual command of language combined with an unexpectedly polite, gentle and open manner” (von Armin and Engel 1964). Twenty years later, WS caught the interest of cognitive scientists when it was seen as a possible case of spared language in the face of impaired cognition (Bellugi, Sabo, and Vaid 1988; Bellugi, Wang, and Jernigan 1994). The early studies noted that, in spite of IQs ranging from 40–70, with an average full-scale IQ of 55 (Bellugi et al. 2001) and significantly impaired visuospatial cognition, adolescents with WS had excellent language skills (Bellugi, Lai, and Wang 1997; Reilly, Klima, and Bellugi 1990). In the ensuing 20 years, recognizing WS as a unique opportunity to investigate genetic influences on brain development and cognitive and social processes, investigators have approached the puzzles of WS from multiple perspectives. In this chapter, we provide an overview of WS, focusing on its cognitive and neuropsychological profile from a developmental perspective and where known, the possible neural and genetic underpinnings of the WS profile. We close with a brief discussion of therapeutic interventions for WS. The WS deletion invariably includes the gene for elastin (ELN), which codes for an elastic protein in connective tissue that is abundant in large blood vessels such as the aorta (Lowery et al. 1995).
Outcome of Neonates with Hyperbilirubinemia
Authors: Ross Gail S. , Krauss Alfred N.
Published: November 2020

Hyperbilirubinemia or jaundice refers to excessive levels of bilirubin in the serum of newborn infants. It is of interest to developmentalists, since serum bilirubin can cross the blood–brain barrier and, in high levels, may cause brain damage, particularly in the globus pallidus, substantia nigra reticulata, subthalamic nucleus, brainstem auditory structures (vestibular and cochlear), oculomotor nuclei, the hippocampus, and the cerebellum. Very high levels of bilirubin can cause the classic acute and chronic bilirubin encephalopathies. Controversy exists as to whether lower levels cause minor neurological, cognitive, or behavioral deficits. Hyperbilirubinemia develops in neonates primarily due to their physiologic immaturity, although other conditions and factors may play a role. Bilirubin is a yellow pigment that results from the breakdown of hemoglobin from red blood cells. In routine clinical practice, bilirubin is measured as total serum bilirubin (TSB). Many healthy full-term infants develop a mild degree of jaundice usually termed “physiologic” jaundice or jaundice not attributable to pathologic factors or disease. The number and rate of breakdown of red cells is higher in the newborn and leads to an increased release of bilirubin to the circulation. The newborn’s liver has reduced capacity to take up bilirubin due to immaturity. Additionally, loss of water in combination with reduced intake of fluid prior to establishment of breast feeding may make the infant jaundiced because of dehydration (Stevenson et al. 2004). Although most neonatal jaundice is physiologic, Table 33.2 lists some of the more common ‘‘pathologic’’ mechanisms causing jaundice in newborns (Stevenson et al. 2004). In actuality, all healthy, full-term infants develop some level of neonatal hyperbilirubinemia as a consequence of physiological immaturity in metabolizing bilirubin, mild dehydration, and/or factors in the breast milk (if they are breast-feeding) (Davidson 1941; Maisels et al. 1986). Clinical jaundice is visible at serum bilirubin levels of approximately 5–7 mg/dL, and approximately 50% (Palmer and Mujsce 2001) of all normal newborns appear jaundiced during the first week of life.
Familial Dysautonomia
Authors: Axelrod Felicia B.
Published: November 2020

Familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) can be considered a genetic model for understanding how perturbations in the autonomic nervous system and the sensory system can compromise cognition and alter behavior. Even in the original description of FD, the psychological and behavioral aspects of the disorder were attributed to central autonomic dysfunction (Riley et al. 1949). Five children with “central autonomic dysfunction with defective lacrimation” were described as exhibiting “undue reaction to mild anxiety” associated with physical manifestations of excessive sweating and salivation, red blotching of the skin, and transient but marked arterial hypertension. In addition, all the children had “constantly diminished production of tears.” Thus, from its earliest description it was appreciated that FD represented a disorder in which central, as well as peripheral, disturbance of autonomic function was associated with changes in behavior. Familial dysautonomias’ impact on cognitive functioning, however, was not immediately apparent. Although intelligence has been reported to be generally within the normal range (Welton et al. 1979), many patients exhibit delays in social, emotional, and/or cognitive domains, which for some patients is quite extreme. As survival has improved for the FD population (Axelrod et al. 2002), an adult FD population has evolved and progressive degeneration has been appreciated both clinically (Axelrod et al. 1981) and neuropathologically (Pearson, Axelrod, and Dancis 1974). In addition, the progressive nature of the disorder appears to include neuropsychological issues as patients report difficulty concentrating (Welton et al. 1979), depression, anxiety, and even phobias (Clayson, Welton, and Axelrod 1980). Thus, in FD the autonomic and sensory nervous systems appear to play a role in the development of normal cognition and behavior, as well as in sustaining homeostasis of these functions. Familial dysautonomia is a recessive disorder caused by IKBKAP gene mutations with a carrier rate as high as one in 27 in the Ashkenazi Jewish population (Anderson et al. 2001; Slaugenhaupt et al. 2001). Prior to identification of the gene in 2001, diagnosis was based on clinical criteria utilizing the ethnic bias for this disorder, as well as on a constellation of signs attributed to sensory and autonomic dysfunctions (Axelrod 2004; Axelrod 2007).
Neuropsychological and Psychiatric Outcomes of Traumatic Brain Injury in Children
Authors: Max Jeffrey E. , Ibrahim Farheen
Published: November 2020

Pediatric traumatic brain injury (TBI) is a major health concern, with an annual incidence of 400 in 100,000 and it is the major cause of disability and death in children in the United States (Langlois, Rutland-Brown, and Thomas 2005). The Glasgow Coma Scale (GCS) (Teasdale and Jennett 1974) is a standard measure of severity of impaired consciousness, and it is used as a measure of TBI severity. Mild TBI is generally defined by the lowest post-resuscitation GCS score of 13–15, but many investigators have also stipulated that a mild TBI is defined by a normal computed tomographic (CT) scan within 24 hours after injury or at least no CT evidence of a brain lesion. Moderate injury has a GCS score of 9–12 or a score of 13–15 with an intracranial lesion. Severe injury has a GCS score of 8 or lower, consistent with coma. The pathology of TBI can be classified into diffuse and focal brain injury, although both types of injury can coexist in the same patient. Focal brain injury is characterized by mechanical forces that produce localized primary lesions that occur at the moment of trauma, such as cortical contusions. In closed head injuries, these forces can also produce hemorrhage in the epidural, subdural, subarachnoid, or intracerebral compartments of the cranium. Diffuse brain injury, more common in children than in adults with severe TBI, is caused by rapid movement of the head due to acceleration, deceleration, and rotational forces, which causes primary axonal injury, such as axonal stretch and shearing. Occurring immediately after trauma and producing effects that may progress over time, secondary injuries include ischemia, brain swelling, breakdown of the blood- brain barrier, release of excitatory neurotransmitters, generation of free radicals, cellular death and dysfunction, hypoxemia, and seizures. Hypotension is a serious complication of TBI and a challenge for acute neurocritical care (Kochanek 2006).
The Treatment Technique
Authors: Fink MD Max
Published: November 2020

The decision to recommend ECT is difficult, much like the decision for a surgical operation. A physician seeking the source of the patient’s symptoms goes through an intellectual process similar to that of a detective solving a mystery. The doctor listens to the patient’s story, finding some conditions to be likely and others not. Physical signs of illness are sought, and tests and special examinations that narrow the probability to a specific illness are considered. When the doctor is able to put the history, symptoms, signs, and test results together, a diagnosis is offered: a solution to the mystery. In many cases, doctors are able to recommend specific treatments that are effective and predict a good outcome. When effective treatment is lacking, symptom relief is offered. For the psychiatric symptoms caused by syphilis, diabetes, thyroid disease, and other medical illnesses, doctors verify the diagnosis with specific tests and offer effective treatments. But for most psychiatric conditions we do not understand the cause, nor do we have laboratory tests to narrow the diagnoses. In the past half century, the classification of psychiatric disorders has grown to more than 300 conditions described mainly by clusters of symptoms. For only a few disorders can we assure effective treatment. At their best, the psychotherapies and medications relieve symptoms, but none cure the disease. The same is true for ECT. It eases identifiable syndromes, or clusters of symptoms. The relief is provisional, however, requiring continued treatment to sustain the benefit. Our abilities have progressively improved in selecting and administering anesthesia, in selecting the amount of electrical energy and the location of the electrodes for stimulation, and in monitoring bodily effects for safer treatments. The following descriptions are meant to answer questions about the techniques of treatment. Bone fractures were a principal risk of the treatments of the late 1930s and 1940s. Physical restraint by a sheet over the chest and abdomen was effective, but chemical relaxation of the muscles that inhibited the convulsion was better. By 1953, the synthetic chemical Anectine was shown to block muscle contractions quickly and safely. Given intravenously, it acts within a minute.
Power and the City
Authors: De Blij Harm
Published: November 2020

The city is humanity’s most enduring symbol of power. States and empires rise and fall, armies conquer and collapse, ideologies come and go, but the world’s great cities endure. If there is a force that can vanquish a city, it is natural, not artificial. Ancient cities that anchored early states in Southwest, South, and East Asia fell victim to climate change as deserts encroached on their hinterlands. Modern cities on low ground at the water’s edge would not survive the sea-level rise that could accompany sustained global warming. But no political upheaval or economic breakdown would end the life of a major city—not even destruction by atomic bombs. Hiroshima and Nagasaki were rebuilt because the advantages and opportunities offered by their sites and situations were unaltered by the catastrophes that struck them. Silk route terminal Chang’an morphed into Xian and Tenochtitlan became Mexico City because their locational benefits, sites, and regional networks outlasted their violent transitions. Not for nothing is Rome known as the Eternal City. With the maturation of the modern state came the notion of the “capital” city, focus of its administrative system and emblematic of its power. Cities had always dominated their hinterlands, but now their power radiated far afield. From Athens to Amsterdam and from Madrid to Moscow, these national capitals became imperial headquarters that launched colonial campaigns near and far. London was synonymous with this early wave of globalization, but Paris also lay at the heart of a global network of power and influence. In these capitals, cityscapes substantiated national achievements through elaborate palaces, columned government buildings, decorative triumphal arches, spacious parade routes, and commemorative statuary. Museums bulging with treasure attested further to the primacy of the culture, leading one observer, long ago but memorably, to designate such centers as “primate” cities (Jefferson, 1939). The trappings of this primacy reappeared in the architecture of colonial headquarters from Dakar to Delhi and from Luanda to Lima, incongruous Greco- Roman-Victorian-Iberian imprints on administrative offices, railroad stations, post offices, even prisons half a world away from Europe. More than ever before, the city in the global periphery was the locus of authority and transculturation.
Systems of Measurement
Authors: Oriakhi Christopher O.
Published: November 2020

Chemistry is an experimental science that involves measurement of the magnitude of various properties of substances. Measurements generate numbers, and we need units attached to these numbers so we can tell what exactly is being measured. Some examples of quantities measured include amount, mass, pressure, size, temperature, time, volume, etc. There are several systems of units, for example, the English system and the metric system. The metric system is the most commonly used system of measurement in chemistry. In 1960, a modernized version of the metric system known as the Systeme Internationale (or SI system) was recommended for worldwide adoption. The SI, based on the metric system, consists of seven fundamental units and several units derived from them. These units serve all scientific measurements. The seven fundamental units are listed in table 2-1. The fundamental units do have some shortcomings. For example, in some cases the base unit is inconveniently large or small. To overcome this, the SI units can be modified through the use of prefixes. The prefixes define multiples or fractions of the base or fundamental units. Some examples are listed in table 2-2. Mass, length, and time are important quantities commonly measured in science, which are assigned fundamental units. The standard unit of mass in the SI is the kilogram (kg), which is defined as the mass of a certain block of platinum–iridium alloy, also known as the prototype kilogram, kept in a vault at the International Bureau of Weights and Measures, in Sevres, France. Other mass units that are related to the kilogram include gram (g), milligram (mg), and microgram (μg). Here is how they are related: 1000 g = 1 kg 1000 mg = 1 g 1,000,000 μg = 1 g Note that the symbol for grams is g, not gm, gms, gr, or anything else. The SI unit of length is the meter (m), which is defined as the distance light travels in approximately 1/299,792,458 second.
A Conclusion and Two Voices from the Other Side
Authors: Fish Stanley
Published: November 2020

In conclusion, let me summarize my argument and the entailments it implies. The grounding proposition is that both the coherence and the value of a task depend on its being distinctive. Beginning with that proposition, I ask: What is the distinctive task college and university professors are trained and paid to perform? What can they legitimately (as opposed to presumptuously) claim to be able to do? My answer is that college and university professors can introduce students to bodies of material new to them and equip those same students with the appropriate (to the discipline) analytical and research skills. From this professional competence follow both obligations and prohibitions. The obligations are the usual pedagogical ones—setting up a course, preparing a syllabus, devising exams, assigning papers or experiments, giving feedback, holding office hours, etc. The prohibitions are that an instructor should do neither less nor more. Doing less would mean not showing up to class or showing up unprepared, not being alert to the newest approaches and models in the field, failing to give back papers or to comment on them in helpful ways, etc. Doing more would be to take on tasks that belong properly to other agents—to preachers, political leaders, therapists, and gurus. The lure of these other (some would say larger or more noble) tasks is that they enhance, or at least seem to enhance, the significance of what a teacher does. But in fact, I argue, agendas imported into the classroom from foreign venues do not enrich the pedagogical task, but overwhelm it and erode its constitutive distinctiveness. Once you start preaching or urging a political agenda or engaging your students in discussions designed to produce action in the world, you are surely doing something, but it is not academic, even if you give it that name.
Anxiety Disorders: Introduction
Authors: Starcevic, MD, PhD Vladan
Published: November 2020

Anxiety disorders can be defined as conditions characterized by pathological anxiety that has not been caused by physical illness, is not associated with substance use, and is not part of a psychotic illness. Therefore, the concept of anxiety disorders is largely based on exclusion of several causes of pathological anxiety–hardly a scientifically defensible position. Since pathological anxiety has been postulated as the sine qua non of anxiety disorders, it is important to first make a distinction between pathological and ‘‘normal’’ anxiety. For the sake of clarifying this matter, the terms anxiety and fear are used here interchangeably (as they both denote a response to a perceived threat), although there is also a prominent view that conceptual differences do exist between them (see also Table 2—21 and Barlow’s account of panic attacks in Chapter 2 for further discussion of this issue). There is broad agreement that pathological and normal anxiety can be distinguished on the basis of the criteria listed in Table 1—1. These criteria cut across all the components of anxiety: subjective, physiological (somatic), cognitive, and behavioral. Although the criteria may seem clear-cut, in practice it may be difficult to draw a precise boundary between pathological and normal anxiety. It is often assumed that normal anxiety has an adaptive role, because it serves as a signal that there is some danger and that measures need to be taken (e.g., a fight or flight response) to protect oneself against that danger; both the danger perceived and the measures taken are considered appropriate (i.e., not exaggerated) in normal anxiety. For example, a student who is anxious about failing the exam correctly judges herself to be well below the sufficient level of knowledge and doubles the effort to catch up with her studies and minimize the risk of failing. In contrast, pathological anxiety pertains to an inaccurate or excessive appraisal of danger; protective measures taken against this danger are way out of proportion to the real threat. Anxiety disorders were introduced in 1980 as a distinct nosological group in the Third Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III; American Psychiatric Association, 1980).
Medicines Used to Treat Psychosis
Authors: Compton Michael T , Broussard Beth
Published: November 2020

Mental health professionals treat nearly all psychiatric illnesses using two types of treatments: medicines and psychosocial treatments. This is true for psychosis as well. We describe medicines used to treat psychosis in this chapter and psychosocial treatments for psychosis in Chapter 7. Medicines are a crucial part of the treatment plan for people who experience a first episode of psychosis. In fact, many mental health professionals view medicines to be the most important aspect of the treatment of psychosis. This is because psychosocial treatments are usually more effective when medicines help to adequately control symptoms. We discuss a number of medicines in this chapter. When a specific medicine is mentioned, two names are given. The first is the generic name and the second (in parentheses) is the trade name in the United States. For example, Tylenol is the trade name of the generic pain medicine called acetaminophen. Anyone taking medicine should be familiar with both the generic and trade names of the medicine, even though the generic names are sometimes more difficult to spell or pronounce. This chapter begins with an overview of the class of medicines used to treat psychosis, called antipsychotic medicines, or just “antipsychotics.” Before explaining antipsychotics in further detail, we set the stage by defining how antipsychotics work and some side effects and other serious problems called adverse events that may occur when taking antipsychotics. We then describe in more detail the two main types of medicines used to treat psychosis, the so-called “conventional” antipsychotics, and the “atypical” antipsychotics. Some mental health professionals refer to these as “first-generation” and “second-generation” antipsychotics, respectively. Then, we discuss the sometimes difficult task of finding the right medicine. We end by addressing two commonly asked questions about antipsychotic medicines: “Why is it important to take the medicine?” and “How long should the medicine be taken?” As mentioned earlier, the main types of medicines used to treat psychosis are the antipsychotics. These medicines are “antipsychotics” because they fight against (“anti-”) psychotic symptoms. As discussed in Chapter 1 (What Is Psychosis?) and Chapter 2 (What Are the Symptoms of Psychosis?), psychosis is a state of not being well-grounded in reality, due to symptoms like hallucinations or delusions.
Introduction: Of Burial Mounds and Toxic Tombs
Authors: Newman Richard S.
Published: November 2020

Driving north on the 290 Expressway from Buffalo to Niagara Falls each day, thousands of cars race alongside the mighty Niagara River. North America's fastest-flowing body of water, the Niagara seems jet-propelled. If the Mississippi is the Father of Waters for its grand length, then the Niagara is its furious little cousin: a short but manic river that, in a span of roughly 30 miles, sprints from Lake Erie to Lake Ontario, with a famous plunge of nearly 200 feet at Niagara Falls. Few visitors ever come away from a tour of Niagara unmoved. "I was in a manner stunned and unable to comprehend the vastness of the scene," Charles Dickens said of his first glimpse of the Niagara River Basin and Falls in the 1840s. "Niagara was at once stamped upon my heart, an image of Beauty; to remain there, changeless and indelible, until its pulses cease to beat, for ever." For Dickens, as for countless others, Niagara Falls exemplifies the American natural sublime. The highway chasing the Niagara River illuminates a different force cutting through Western New York: industrialization. For what was once a scenic landscape astride a beautiful waterway has long since become a poster child of mega-industrial growth. In Buffalo, where the "Niagara" section of the thruway begins, mammoth factory buildings, hulking steel mills, and a cityscape of grain elevators testify to the industrial pathway that made the region a production powerhouse. At Niagara Falls, the road rolls past majestic power canals and generating stations, illuminating the region's (and the nation's) path to hydroelectric energy. The advent of hydroelectric power, as the saying goes, turned night into day and helped fuel the American industrial dream. No wonder area nuns used to tell troublesome teens that they should pray for their souls. If the Soviet Union wanted to take out American industrial power in Cold War times, Buffalo-Niagara was a main target.
Preparing for Pandemics
Authors: van Santen Rutger , Khoe Djan , Vermeer Bram
Published: November 2020

The first draft of this chapter was written before the pandemic alert for the 2009 flu was launched. Since then, terms such as swine flu, Mexican flu, or H1N1 were constantly in the headlines. We witnessed the first really worldwide outbreak of a new influenza strain. Events went faster than we foresaw in our original text. We had started the chapter with an imaginary scenario of an outbreak in 2013 not in Mexico but in the East Java, Indonesia, city of Malang. It was not really meant as a prediction but merely a little story to show the consequences of an outbreak. We wanted to show how disruptive the outbreak of a new disease might be. We described all the things that we are now familiar with: doctors who aren’t particularly worried in the beginning; people that live close to their animals and pick up viruses; patients in hospitals with high fever and severe cough; pharmaceutical companies anxious to peddle expensive vaccines. Then we invented some struggle between the Indonesian authorities and the World Health Organization (WHO) about blood samples. That reflects the reluctance of developing nations to cooperate in the production of vaccines they can never afford. In our story, the rest of the world ignored this imaginary outbreak and was oblivious to the rising death toll and the diplomatic wrangling. That’s just like the start of the 2009 flu that probably haunted Mexican villages for many weeks unreported. In our story, the silence was broken when two nurses died in Perth, Australia. The media seized on the story immediately with yelling headlines. In the week that followed, dozens of new cases were reported in Indonesia, Australia, and Singapore, together with the first suspected case in New York. Then there follows all the health humdrum that we are now so familiar with. The WHO has got hold of the flu virus and is preparing to produce a new vaccine. However, the epidemic spreads like an oil slick with the virus striking one major city after another. Antivirals change hands over the Internet for huge sums despite doctors’ warnings that the drugs only work if administered within a few hours of infection.
Why Do Clinicians Have Difficulty Detecting Depression?
Authors: Mitchell Alex J.
Published: November 2020

Hundreds of studies reveal than most cases of depression remain undetected and untreated. Yet there is growing concern that efforts to increase detection of depression entail unacceptable numbers of persons who are not depressed nonetheless being given a diagnosis and receiving medication. What factors underlie false-positive and false-negative errors? How might clinicians and services address these detection errors? Only about half of primary care practitioners (PCPs) feel confident in diagnosing depression or assessing suicide risk. Yet the issue of underdetection is by no means confined to PCPs or to depression. Convincing data show that clinicians in all medical specialties have difficulty recognizing mental disorders. This includes depression, anxiety, and delirium and dementia. Less discussed in the literature but increasingly recognized as important is the issue of overdetection. In this chapter I will review the predictors of diagnostic errors (false positives and false negatives) with reference to depression in primary care. I will focus on two essential barriers to correct identification: communication and illness complexity. To meaningfully discuss errors in recognition, it is important to first establish baseline rates of depression. Prevalence exerts a powerful influence upon detection accuracy, not least because clinicians usually have a higher index of suspicion for high-risk patients. The World Health Organization (WHO) study on Psychological Problems in General Health Care (PPGHC), conducted across 14 countries, found that 26% of individuals visiting their PCP had at least one psychiatric disorder as defined by ICD-10 criteria. Fourteen percent had major depression. Almost identical rates were reported from the European Study of the Epidemiology of Mental Disorders (ESEMeD). If one examines depression in older people, the point prevalence of major depression is lower in rural than urban primary care practices (8.3% versus 14.8%). Further, if one combines a 14% rate of major depression with 10% who have minor depression, then the combined rate approaches 25%. Approximately 100 studies concerning the unassisted recognition rate of depression in primary care have been published, but only a third have used a robust semi-structured interview as a gold standard.
Screening for Depression in Neurologic Disorders
Authors: Kanner Andres M.
Published: November 2020

Depression appears to be particularly common in several neurologic disorders, including epilepsy, stroke, dementias, Parkinson’s disease, Huntington’s disease, and multiple sclerosis. There is some evidence that the ‘‘depression’’ associated with each neurologic disorder is distinct in symptoms and course. This suggests it may be useful to have depression scales validated for each neurologic disorder, yet most instruments appear to yield comparable acceptable sensitivities and specificities. However, head-to-head comparisons of scales and implementation studies are needed to resolve this issue. Depressive disorders are a common psychiatric comorbidity of neurologic disorders, including epilepsy, stroke, dementias, Parkinson’s disease (PD), essential tremor, Huntington’s disease, migraines and multiple sclerosis (MS), to name the principal ones. It is typically assumed that depressive disorders are a complication of these neurologic disorders. However, data published in the past 15 years have suggested a bidirectional relation between depression and stroke, epilepsy, dementia, and PD. In other words, not only are patients with these neurologic conditions at greater risk of developing depression, but patients with depression are at greater risk of developing one of these disorders. Early identification of comorbid depressive disorders is of the essence given their negative impact on quality of life and the course and response to treatment of most of these neurologic disorders. Unfortunately, depression often goes unrecognized and hence untreated. Clearly the use of screening instruments by neurologists may help remedy this problem. Several caveats need to be considered, however. First, the clinical presentation of comorbid depressive disorders may differ in several ways from that of primary depression, such as in cases of depression in epilepsy. Second, several somatic and cognitive symptoms are common in primary depression and most neurologic disorders (ie, fatigue, poor concentration, and slow thinking). Thus, a higher score may be a reflection of such symptoms and not of a depressive episode per se. Third, most of the available screening instruments for depression were developed for primary mood disorders and hence may yield false-positive or -negative findings.
Screening in Cardiovascular Care
Authors: Thombs Brett D. , Ziegelstein Roy C.
Published: November 2020

There is great interest in screening in cardiovascular settings but little evidence that implementation of screening will affect depression or cardiac outcomes despite the epidemiologic evidence that depression predicts cardiac events and mortality. Since this chapter was accepted, in October 2008 the American Heart Association (AHA) Working Group published a Scientific Advisory recommending that all patients with cardiovascular disease be screened for depression, although this recommendation was not based on a systematic review of the evidence. Several weeks after release of the Scientific Advisory, a systematic review of depression screening in cardiovascular care was published but did not find evidence that patients with cardiovascular disease would benefit from screening for depression. The authors of the review noted that no published trials have assessed whether screening for depression improves depressive symptoms or cardiac outcomes in patients with cardiovascular disease, suggesting that the recommendations of the AHA Scientific Advisory were premature. High rates of depression were first documented among patients with cardiovascular disease (CVD) in the late 1960s. Early research on depression in CVD focused on patients with acute myocardial infarction (AMI) and conceptualized depression as an acute reaction to a catastrophic medical event. In the 1990s, groundbreaking work by Frasure-Smith and colleagues demonstrated a connection between major depression during hospitalization for AMI and subsequent mortality. Since then, many other studies have identified major depression or depressive symptoms as risk factors for mortality and recurrent cardiac events among patients with AMI or unstable angina pectoris (together known as acute coronary syndromes [ACS]) even after controlling for other known risk factors, although not all studies have reported a significant association. Other studies have reported that depression among patients with ACS is related to decreased quality of life and poor adherence to secondary prevention behaviors, including smoking cessation, taking prescribed medications, exercising, and attending cardiac rehabilitation. Less research on the relationship between depression and mortality has been done in other CVD patient groups, although similar links have been reported in studies of patients with congestive heart failure (CHF), for instance.
Late Extruding Shunts and Conjunctival Erosions
Authors: Vold Steven D.
Published: November 2020

A serious complication associated with tube shunt surgery is conjunctival erosion and late extrusion of the implant. This postoperative complication has been estimated to occur in 2%–7% of eyes following tube shunt surgery. In these eyes, the risk of subsequent intraocular infection is significantly increased. With increasing tube shunt utilization, understanding etiologies, prevention, diagnosis, and management of this complication become essential. Although our understanding of this problem is limited, a number of key factors are believed to play important roles in the development of late tube shunt extrusion and conjunctival erosion. Possible etiologies include both patient- and surgeon-dependent factors. Conjunctival health and viability should be carefully assessed preoperatively in eyes requiring tube shunt surgery. Eyes that have undergone previous conjunctival surgery, such as trabeculectomy (especially when performed with antifibrotic agents), other incisional glaucoma surgeries, large incision cataract surgery, scleral buckling, and penetrating keratoplasty, may potentially be at increased risk for developing this complication. Conjunctival limbal stem cell loss resulting from chronic topical glaucoma medication use, keratoconjunctivitis sicca, chemical burns, pterygia, trauma, and systemic inflammatory conditions may also serve as predisposing factors. Pediatric patients also appear predisposed to tube migration (see Chapter 48) and tube shunt complications. Surgical technique is also assumed to play a significant role in the development of this complication. Proper positioning of the tube shunt, adequate tissue reinforcement over the tube, and meticulous conjunctival closure may impact long-term surgical outcomes. Maximizing conjunctival health prior to tube shunt surgery is often encouraged, but not always possible. For patients with significant ocular surface disease, anti inflammatory medications and lubricants may assist in improving the health of corneal and conjunctival limbal stem cells and epithelium preoperatively. Proper management of systemic diseases such as rheumatoid arthritis and diabetes mellitus might also favorably impact long-term surgical outcomes. Unfortunately, prospective studies validating the assumption that a healthy conjunctiva prevents tube shunt extrusion and conjunctival erosion are currently lacking. Furthermore, no evidence-based perioperative or long-term medical regimen can be recommended at this time. Surgical technique is also widely believed to impact the incidence of late tube shunt extrusion and conjunctival erosion.
Tube Shunt Related Complications of the Cornea
Authors: Wang Nan
Published: November 2020

Tube shunts can be placed in the anterior chamber, the ciliary sulcus, or the pars plana. However, if the eye is phakic, the choice is limited to the anterior chamber; ciliary sulcus placement is likely to result in cataract formation, and pars plana placement will likely complicate removal of the cataract that will likely develop. Most corneal complications of tube shunt surgery result from tubes that are too anterior. Loss of vision may result due to these complications. If the tube is inadvertently inserted too close to the cornea, a loss of endothelial cells will result in edema and require transplantation to restore vision. Reported rates of corneal complications range from 2% to 33% and consist mostly of corneal edema/decompensation and corneal graft failure. In a cohort of patients implanted with the Ahmed™ Glaucoma Valve (New World Medical, Inc., Rancho Cucamonga, California), postoperative corneal abrasions occurred in 5 of 60 (8%) eyes. Another study reported the rate of corneal drying/dellen later in the postoperative course (8 of 59 eyes; 13.6%). Contact between the tube and the cornea has been noted at a rate of up to 5%. As the rate of tube shunt implantation has increased, the incidence of corneal edema in patients with tube shunts has also increased. Some of these cases develop corneal opacification with decreased vision and may require corneal transplantation to clear the visual axis. One large study of patients with Ahmed tube shunts (159 eyes total) reported corneal graft failure resulting in repeat penetrating keratoplasty (PKP) in 11 of 31 (35%) eyes with corneal grafts. Improper anterior chamber tube entry may damage the cornea. If the entry angle is not parallel to the iris and aims anteriorly, the needle used to create the tunnel may tear or detach Descemet’s membrane. Entry through the cornea (rather than the sclera) may also predispose to epithelial downgrowth or tube extrusion. To avoid such a complication, fullthickness entry into the anterior chamber should be as far posterior as possible.
Glaucoma Problems Associated with Aniridia
Authors: Netland Peter A.
Published: November 2020

Glaucoma is a potentially vision-threatening problem that is commonly encountered in aniridia patients. This condition may develop at birth, or shortly thereafter. More commonly, however, glaucoma is acquired later in childhood or even young adulthood. If unrecognized and untreated, glaucoma can result in blindness. For this reason, it is important to be vigilant in watching for this condition in children affected with aniridia. Vision lost due to glaucomatous damage cannot be regained at a later time. In addition to glaucoma, children with aniridia may demonstrate other problems with their vision. They may have refractive errors, corneal or retinal problems, or abnormalities of eye movement. Foveal hypoplasia (lack of development of the retina) may limit vision in some children. In aniridia patients, cataract (opacification or cloudiness of the lens) is seen with approximately the same prevalence as glaucoma. Cataract, however, differs from glaucoma in that the vision loss due to cataract is reversible. Glaucoma is suspected in aniridia patients when there is an increased intraocular pressure. Glaucoma can be definitely diagnosed when changes of the optic nerve occur due to this elevated intraocular pressure. At the later stages of the disease, visual field loss occurs. In the normal eye, the fluid (aqueous humor) in the front of the eye (the anterior chamber) is produced by the ciliary body, which is located behind the iris (see Figure 5.1). The fluid produced from the ciliary body flows forward into the anterior chamber, where it drains from the anterior chamber angle through tissue called the trabecular meshwork. When there is an abnormal situation, the fluid exits the eye poorly or not at all, and the intraocular pressure may be increased. The fluid may be blocked from exiting the eye by a closed angle, or may flow poorly out of the eye even though the angle is open (see Figure 5.2). The angle may be closed in aniridic patients when the stump of residual iris covers the trabecular meshwork in the anterior chamber angle.
Essentials of Automated Perimetry
Authors: Shafranov George
Published: November 2020

Standard automated perimetry is a standard method of measuring peripheral visual function. Automated static perimetry gained wide acceptance among clinicians due to the test’s high reproducibility and standardization and ability to store, exchange, and statistically analyze digital data. Advances in the computerized visual field assessment have contributed to our understanding of the role that field of vision plays in clinical evaluation and management of patients. The Humphrey Visual Field Analyzer/HFA II-i is the most commonly used automated perimeter in the United States, and the examples in this chapter have been obtained with this instrument. Aubert and Förster in the 1860s developed the arc perimeter, which led to the mapping of peripheral neurologic visual field abnormalities and advanced glaucomatous field defects. Analysis of the central visual field was not seen as clinically important by most clinicians until 1889, when Bjerrum described a detected arcuate paracentral scotoma. Later, Traquair further contributed to kinetic perimetry on the tangent screen. In 1893, Groenouw proposed the term “isopter” for lines with the same sensitivity on a perimetry chart. Rønne further developed kinetic isopter perimetry in 1909 and described the nasal step in glaucoma. Although the first bowl perimeter was introduced in 1872 by Scherk, due to problems with achieving even illumination on the screen, it did not become popular. The version of the bowl perimeter introduced by Goldmann in 1945 became widely accepted and is a significant contribution to clinical perimetry. The Goldmann perimeter incorporated a projected stimulus on an illuminated bowl, with standardization of background illumination as well as size and intensity of the stimulus, and allowed effective use of both static and kinetic techniques. For these reasons, the Goldmann instrument has remained the clinical standard throughout the world until widespread acceptance of automated perimetry. Harms and Aulhorn later designed the Tübingen perimeter with a bowl-type screen exclusively for the measurement of static threshold fields, using stationary test objects with variable light intensity. While excellent threshold measurements were possible with this instrument, the time and effort involved in such measurements prevented this perimeter from becoming widely used.
Crime
Authors: Baldwin Peter
Published: November 2020

It is Commonly Claimed that American society is crime-ridden and violent. Horrendous numbers of murders are committed, almost twice the per capita rate in 2004–05 of the nearest competitors, Switzerland, Finland, and Sweden (figure 67). The death-by-assault rates in America are over three times the nearest European comparisons, Finland, followed by Portugal. That is without question. Such mayhem cannot be due simply to gun ownership, since by some accounts the Finns and the Swiss have a higher percentage of armed households than the Americans (figure 68). Firearms ownership, though highest in the United States per capita if measured by individual citizen, is not as far beyond the European numbers as one might expect from the horror stories of South Central or the South Bronx. According to the Graduate Institute of International Studies in Geneva, Americans own 97 firearms per hundred people, the Finns 69, the Swiss 61, the Swedes 40. Another survey, published by Tilburg University in the Netherlands, the Dutch Ministry of Justice, and two United Nations Institutes, reveals that percentage-wise there are more firearms in the hands of the residents of Zurich, Vienna, Stockholm, Rome, Reykjavik, Oslo, Madrid, Lisbon, Helsinki, and Athens than in those of New Yorkers. Indeed, the burghers of Helsinki, Berlin, Lisbon, Rome, Vienna, and Zurich own proportionately as many or more handguns as New Yorkers. To the extent that gun ownership and hunting overlap, the distinctions between the United States and Europe also fade. Svenska Jägarförbundet, the Swedish Hunters Association, has a membership (200,000) that is proportionately almost twice as high as what the National Rifl e Association claims (4 million). The Schweizer Schiesssportverband (Swiss Shooting Association) has a membership (85,000) that is relatively as high as the NRA’s. Its arguments against current proposals to regulate gun ownership in Switzerland more strictly sound many of the same themes that are heard in the United States, down to the slogan about people, not guns, doing the actual killing. The smaller Pro-Tell Society defends gun ownership as part of Switzerland’s liberal tradition. In Switzerland, of course, men oft en keep their military weapons at home.