bluuebunny/crossref_metadata_2025 huggingface dataset:
Role of the Orthodontist in the Management of Patients with Cleft Lip and/or Palate
Authors: Lidral Andrew C , Vig Katherine W L
Published: November 2023

The role of the orthodontist on a cleft palate team was defined when the cleft palate team approach was recognized as the most appropriate method to manage the care of patients with facial clefts. In the past, individuals with clefts and craniofacial anomalies underwent a succession of evaluations and hospitalizations by their independent caregivers. This individualized delivery of care was considered in the best interest of the patients in spite of additional hospital admissions and general anesthetics. However, this led to the fragmentation of care and higher costs and risks. A team approach for providing care has been developed and is the contemporary standard endorsed by the American Cleft Palate Association, which was established in 1943. In 1972, craniofacial teams became established as an extension to the cleft palate team, and the organization was renamed the American Cleft Palate-Craniofacial Association. This was a natural development to the cleft palate team as clinical geneticists and dysmorphologists became increasingly aware that facial clefts were part of a phenotypic spectrum of craniofacial anomalies (Shprintzen et al., 1985). The team approach to comprehensive care requires the orthodontist to work in a collaborative way to determine the timing and sequencing of treatment interventions. This patient-centered care by an interactive and evidence-based team of caregivers provides the basis for a rational approach to diagnosis and treatment planning and delivery. Because there are multiple methods and alternative treatment interventions available, the team approach to management requires that patients and their parents be aware of the choices with a risk/cost/benefit appraisal so that they can make an informed decision, understanding the consequences of the different options available, especially in light of emerging technologies and treatment modalities for which long-term outcomes are not available.
Translating Research Findings into Public Health Action and Policy
Authors: Olney Richards. , Moore Cynthia A
Published: November 2023

Cleft lip and cleft palate are important to public health in terms of birth prevalence, associated disabilities, costs of care, and psychosocial impact. Scientific studies relating to these issues are outlined in other chapters of this book. In this chapter, we focus on the practical application of scientific knowledge by public health providers to prevent and ameliorate birth defects at the community level. Some of the examples in this chapter do not necessarily apply directly to orofacial clefts. However, since these examples of birth defect programs include other malformations of similar public health importance such as neural tube defects, or are programs directed at exposures and outcomes that may also be related to orofacial clefts, they represent model approaches to public health aspects of birth defects that may also apply to cleft lip and cleft palate. One public health program at the Centers for Disease Control and Prevention (Centers for Disease Control and Prevention, Division of Diabetes Translation, 2001) has defined its role in translating research findings into widespread clinical and public health practice in the following ways: This conceptual framework will be used here to discuss areas of public health policy and action that may apply to emerging epidemiologic, genetic, and clinical research findings related to cleft lip and cleft palate.
“Texas Will Be Annexed”
Authors: Silbey Joel H
Published: November 2023

The First Fruits Of James K. Polk’s victory was, not unexpectedly, the annexation of Texas. The fervent annexationists of the previous spring were still in office and, like many others, chose to read the presidential election as a statement of the voters’ positive attitude about the issue. (Considering the fifty-fifty division of the vote, that seems something of a stretch.) They therefore proceeded to accomplish what they wanted to do all along. The annexationists’ leader, John Tyler, urged on by Secretary of State Calhoun, made one more intervention on the issue, again significantly roiling the political waters as he did so. Polk would not take office until early March, four months after his victory. The newly elected Twenty ninth Congress would not convene in its first session until December 1845, thirteen months after the national election (unless called earlier to Washington by the president). However, the existing Congress, the Twenty-eighth, whose upper house had refused to ratify the annexation treaty the previous spring, would meet one last time in a short so-called lame-duck session one month after Polk’s victory.
The Process of Public Policy innovation
Authors: Roberts Nancy C , King Paula J
Published: November 2023

Analyses of public policy innovation span a wide-ranging set of policy issues, and identify multiple antecedents and consequences of those innovative policies (Polsby 1984; Kingdon 1984: Schon 1971). Despite the range and diversity of the studies, however, there seems to be a fundamental point on which researchers agree. Central to their research is the acknowledgment of a group of individuals who, as Schon (1971: 55-56) described them, Research for this chapter was supported from 1983 to 1985 from a grant to the Minnesota Research Program from the Organizational Effectiveness Research Program, office of Naval Research (Code 4420E), under Contract No. N00014-84-K-0016. From 1986 through 1987 the research was supported by a grant from the Research Foundation, Naval Postgraduate School, Monterey, California. We would like to extend our thanks to andy Van de Ven, Scott Poole, and Ray Bradley for their invaluable help on earlier versions of this chapter, and to all of those who so generously gave their time and insights to make this study a reality.
Vestibular Function: An Overview
Authors: Baloh Robert W , Honrubia Vicente
Published: November 2023

The vestibular system interacts with other sensory systems—particularly the visual and somatosensory systems—to perceive the relative motion between self and objects in space and to maintain equilibrium. The ensuing sensory and motor interactions contribute to orientation, a phenomenon that is different from that of all of the elements acting individually.
Trauma
Authors: Baloh Robert W , Honrubia Vicente
Published: November 2023

Fractures of the temporal bone most commonly result from direct lateral blunt trauma to the skull in the parietal region of the head.1 Because the otic capsule surrounding the inner ear is very dense bone, the fracture usually courses around it to involve the major foramina in the skull base, the most common being that of the carotid artery and the jugular bulb.2 Fractures commonly occur near the root of the external auditory canal and run parallel along the petrous apex, extending anteriorly to the foramen lacerum and the carotid artery. They may also extend into the temporal mandibular joint region.
Toxic/Metabolic Disorders
Authors: Baloh Robert W , Honrubia Vicente
Published: November 2023

Auditory and vestibular symptoms and signs are common in patients with diabetes mellitus, but convincing evidence does not exist for a specific lesion of the inner ear or eighth nerve.1–4 In those diabetic patients with audiovestibular dysfunction whose temporal bones and nervous systems have been studied at necropsy, pathologic changes can be explained on the basis of associated vascular disease.5–7
Developmental and Genetic Disorders
Authors: Baloh Robert W , Honrubia Vicente
Published: November 2023

Permanent hearing loss occurs in about 1 to 3 out of every 1000 live births.1,2 In high-risk neonates, the prevalence is much higher, in the range of 1 in 50 live births. Although <10% of infants are treated in neonatal intensive care units, these newborns account for more than half of all cases of early-onset sensorineural hearing loss.
The Dawn of the One Gene—One Enzyme Hypothesis During the Classical Period
Authors: Maas Werner
Published: November 2023

We have seen that during the Classical Period geneticists occupied themselves mainly with working out the mechanism of gene transmission from one generation to the next. Yet many of them could not resist speculating about the way in which genes produce specific effects on the appearance of organisms. Since enzymes were known to be specific catalysts in cellular metabolism, these speculations usually ended up with the involvement of enzymes. In surveying the literature I found the names of 17 geneticists who implicated enzymes in gene action. Some of them, such as Bateson, Muller, and Cuenot, are encountered in the Chapter 2.
Escherichia coli Enters the Field
Authors: Maas Werner
Published: November 2023

EScherichiA coli (E.coli) is a bacterium whose normal habitat is the intestine of man and animals. It is named after Theodor Escherich, a German pediatrician, who first isolated it in 1885 from feces of children whose intestinal function he was studying at the University of Munich. At first, E. coli was considered to be a harmless organism that formed part of the normal intestinal flora. In later years, it was found to be the causative agent of a number of infectious diseases, including diarrhea, urinary tract infection, and frequently fatal infections of the blood stream. This paradoxical situation was resolved when it was found that only certain strains of E. coli caused these diseases. In recent years the characteristics of these strains that are responsible for their virulence have been an important subject for investigation by medical microbiologists. Outbreaks of diarrheal infections caused by food contaminated with a virulent strain of E. coli have been reported frequently in the daily newspapers.
The Operon Model
Authors: Maas Werner
Published: November 2023

The culmination of the work on gene action and its regulation occurred in 1961 with the formulation of the Operon Model by Jacob and Monod. This combined all the steps of protein synthesis, so carefully assembled since 1953, with the regulatory mechanisms described in Chapters 12 and 13, in a complete picture. It was a peak in the history of gene action from which one could view the past and obtain a glimpse of the future.
Pharmacokinetics I: developmental principles
Authors: Vinks Alexander A , Walson Philip D
Published: November 2023

Rational pharmacotherapy is dependent upon a basic understanding of the way patients handle drugs (pharmacokinetics) and their response to specific drug effects (pharmacodynamics). Most drugs have been developed and tested in young to middle-aged adults. The evaluation of medications in children has always lagged behind that in adults. In 1964, Dr. Harry Shirkey first called attention to this major public health problem. He coined the term “therapeutic orphans” to describe children as a result of the lack of formal drug studies in children (Shirkey, 1968, 1999).
Pharmacogenetics
Authors: et.al. George M Anderson
Published: November 2023

Pharmacogenetics is usually defined as the study of genetic influences on drug response. Pharmacogenomics, a more recently coined and largely interchangeable term, refers to the area of research that employs genetic information in drug design and treatment. Initial pharamacogenetic research dealt with genetic variation in catabolizing enzymes, and examined how this variation influenced the pharmacokinetics of different drugs. More recently, pharmacogenetics has begun to consider pharmacodynamic aspects of drug response. These studies have investigated how genetic variation at the site of drug action can influence drug effects. It is an exciting time for pharmacogenetics/genomics, as recent applications across medical specialties suggest that the approach has great potential. This appears to hold true for neuropsychopharmacology, and for child and adolescent psychopharmacology in particular.
Neurobiology of early-onset mood disorders
Authors: Kaufman Joan , Blumberg Hilary
Published: November 2023

In this chapter we review extant data on the neurobiology of unipolar and bipolar depressive disorders in children and adolescents. A complement to two recent reviews (Kaufman and Ryan, 1999; Kaufman et al., 2001), this chapter places primary emphasis on those studies in which neuroimaging techniques have been used. Unfortunately, such studies are few and far between. Preclinical models that have guided research on the neurobiology of affective disorders in adults are discussed, and, given the limits in the application of these models to juvenile samples, especially in the case of unipolar disorder, the need for more developmentally focused preclinical work is emphasized.
Neurobiology of eating disorders
Authors: Strober Michael , Klump Kelly L
Published: November 2023

Anorexia nervosa (AN) and bulimia nervosa (BN) are disorders characterized by aberrant patterns of feeding behavior and weight regulation, and disturbances in attitudes and perceptions toward body weight and shape. In AN, there is an inexplicable fear of weight gain and unrelenting obsession with fatness even in the face of increasing cachexia. Bulimia nervosa usually emerges after a period of dieting, which may or may not have been associated with weight loss. Binge eating is followed by either self-induced vomiting or some other means of compensation for the excess of food ingested. Most people with BN have irregular feeding patterns and satiety may be impaired. Although abnormally low body weight is an exclusion for the diagnosis of BN, some 25% to 30% of bulimics presenting to treatment centers have a prior history of AN; however, all bulimics have pathological concern with weight and shape. Common to individuals with AN or BN are low selfesteem, depression, and anxiety.
Antipsychotic agents: traditional and atypical
Authors: Findling Robert L , McNamara Nora K , Gracious Barbara L
Published: November 2023

Drugs that are marketed for the treatment of psychotic disorders in adults, the antipsychotics, are prescribed for a range of problems in children and adolescents. At present, 15 medications are marketed as antipsychotics in the United States. These agents come from several different classes of chemical compounds (Table 26.1). In addition, there are several drugs that are related to the antipsychotics that may also be prescribed to youths for other conditions. These include the antidepressant amoxapine and the preanesthetic droperidol. Metoclopramide and prochlorperazine are related agents that are marketed for their effects on the gastrointestinal system.
Anxiolytics: benzodiazepines, buspirone, and others
Authors: Barnett Shannon R , Riddle Mark A
Published: November 2023

In the treatment of children and adolescents with anxiety disorders clinicians have a wide variety of pharmacologic options beyond the antidepressants (Shader and Greenblatt, 1995; Lydiard et al., 1996; Riddle et al., 1999). The benzodiazepines (BZs), with their favorable safety profile and quick onset of action, are attractive alternatives for the treatment of acute anxiety. While the clinical effectiveness of buspirone has not been proven in children, buspirone is used alone or in combination with other drugs in the treatment of anxiety disorders. The antihistamines are often used to treat insomnia and may reduce acute mild agitation. Zolpidem (Ambien) is occasionally used for its sedative properties. This chapter reviews the structure, proposed mechanisms of action, pharmacodynamic principles, and pharmacokinetic principles of these drugs.
Attention-deficit hyperactivity disorder
Authors: Spencer Thomas , Biederman Joseph , Wilens Timothy , Greene Ross
Published: November 2023

Attention-deficit hyperactivity disorder (ADHD) is the most common juvenile psychiatric disorder presenting to mental health workers, child psychiatrists, and pediatricians. This disorder is one of the major clinical and public health problems because of its associated morbidity and disability in children, adolescents, and adults. Its relevance to society is significant in terms of financial cost, stress to families, and impact on academic and vocational activities, as well as the negative effects on self-esteem. The Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) recognizes three subtypes of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype (American Psychiatric Association, 1994). These categories acknowledge clinical heterogeneity and reflect a change in emphasis from earlier definitions that stressed motoric symptoms to the current nosology, which emphasizes deficits in the regulation of cognitive function.
Depressive disorders
Authors: Birmaher Boris , Brent David
Published: November 2023

Major depressive disorder (MDD) is a familial recurrent illness associated with poor psychosocial and academic outcome; an increased risk for other psychiatric disorders, suicide, and suicide attempts; and a high rate of depression and psychological difficulties in adult life (Birmaher et al., 1996b; Goodyer et al., 1997; Lewinsohn et al., 1999; Pine et al., 1998; Rao et al., 1999; Weissman et al., 1999a,b). The prevalence of MDD in children and adolescents is approximately 2% and 6%, respectively (Birmaher et al., 1996b). Thus, early identification and prompt treatment of this disorder at its early stages is critical.
Clinical trials methodology and design issues
Authors: Vitiello Benedetto
Published: November 2023

There is an increasing interest in clinical trials of psychotropic medications in children and adolescents. Several factors contribute to this interest. It is now evident that mental illness often starts in the first two decades of life and both parents and clinicians are more attentive to the presence of psychopathology in youths. New classes of psychotropic medications with a more favorable safety profile than that of older drugs have become available, and are often prescribed to children off-label, that is without pediatric indications approved by the Food and Drug Administration (FDA). Efficacy and safety cannot be entirely extrapolated to children from data collected from adults, as development can affect pharmacokinetics, metabolism, therapeutic response, and drug toxicity. Thus, there are currently no reasonable alternatives to conducting well-designed clinical trials in youths with mental illness as a necessary step toward developing effective and safe treatments for this age group.
Regulatory issues
Authors: Laughren Thomas P
Published: November 2023

Psychiatric illness is recognized in the pediatric population, and there is evidence of substantial use of psychotropic medications in this age group, including in the preschool population (Zito et al., 2000). Unfortunately, the evidence base is inadequate to support the current level of prescribing in this area; neither the efficacy nor the safety of these medications in pediatric patients is well established for most indications. This lack of critical information to support prescribing is reflected in the approved labeling for most of the drug products that are prescribed for pediatric patients with psychiatric illness, which simply states that safety and effectiveness have not been established in pediatric patients. Thus, most prescribing of psychotropic drugs in the pediatric population is off-label, and each child treated is, in a sense, an experiment, but one that is not likely to generate much useful information. There is a critical need for more and better information on the efficacy, safety, dosing, and pharmacokinetics of the psychotropic drugs used to treat psychiatric illness in pediatric patients. There are a number of explanations for the lack of research in pediatric psychopharmacology (Jensen et al, 1994), but this is not the focus of this chapter. Rather, it will review Food and Drug Administration (FDA) initiatives in recent years to stimulate drug research in the pediatric population and the impact of these initiatives on drug development in pediatric psychopharmacology. The chapter will also consider the assessment of safety, the balancing of science and ethics, the preschool population, and other problems that must be addressed for drug development in this area to progress. The chapter will begin with a brief overview of drug development and the regulatory process. In some cases it will be necessary to limit details of the discussion to protect the proprietary rights of individual sponsors who have drug development programs underway in this area.
Ethics, Politics, and Priorities in the Italian Health-Care System
Authors: Ruberto Giovanna
Published: November 2023

A rational man acting in the real world may be defined as one who decides where he will strike a balance between what he desires and what can be done. It is only in imaginary world that we can do whatever we wish. Walter Lippermann, The Public Philosophy The constitutions of all Western countries revised after World War II incorporated a new focus on citizens’ rights: the right to personal liberty, to health, to well-being, and so forth. In fact, equal and free access to health care and to education are now seen as fundamental rights throughout Western Europe. They are considered to be as basic as the right to freedom of speech, and they are seen as necessary constituents of and means to freedom. In the Constitution of Italy, individuals’ right to health care is specifically decreed in Article 32 where the government pledges free health care to all, including the indigent. Legislation related to the health-care system was revised in 1978 by Law 883 and also by subsequent legislative decrees. As recently as 1998, Law 40 was passed, which clearly asserts that all foreign citizens, even illegal immigrants, have an equal right of access to health care. The sum total of this legislation makes health care a fundamental right for everyone in Italy. Access to the health-care system is free for every one living in or simply visiting the nation.
Age Rationing Under Conditions of Injustice
Authors: Francis Leslie Pickering
Published: November 2023

How can an egalitarian justifiably reject age rationing in health care, if rationing is necessary at all? The elderly have had more of the good of life, a “fair innings” in British parlance, so it would seem to follow that they should be of lower priority when it comes to fulfilling health care needs. Or so Daniel Callahan contends (1998). And so Norman Daniels (1985) also contends, but for different reasons. Daniels’s view is Rawlsian: If we do not know our circumstances with respect to health, we would choose health care for ourselves that attempts to further the normal opportunity range over a life span, rather than care extending life beyond that range. Perhaps Daniels is right, and we would so choose. In the real world, however, we do not have the luxury of choosing a health-care system for a complete life, at least for those who are already in the middle of life or nearing life’s end. Instead, we must think about how to apply whatever system turns out to be in place to a wide variety of individuals, some of whom will have enjoyed relative wealth and good health care over a life span but others of whom will not have been so fortunate. The suggestion on which this discussion is based is that Callahan and Daniels consider the problem of age rationing as a problem of “ideal theory.” Daniels, for example, argues that age rationing is justified as a choice made within individual lives, not among lives. Choosers behind the veil of ignorance can expect that earlier benefits will follow them across a lifetime.
Liquidity and Transaction Cost Measurement
Authors: Harris Larry
Published: November 2023

Traders pay attention to their transaction costs because transaction costs make implementation of their trading strategies expensive. Transaction costs are most important to traders who trade frequently or who trade large sizes. For most active traders, transaction costs are the most significant determinants of their total returns.
Specialists
Authors: Harris Larry
Published: November 2023

Some exchanges assign special responsibilities to members they designate as specialists. The specialists must continuously quote two-sided markets so that markets always exist in their specialties. They must also ensure that their markets are orderly and that prices do not jump too quickly.
Metaphor in Literature
Authors: Kövecses Zoltán
Published: November 2023

What is the relationship between the metaphors used in ordinary language and those used in literature, including poetry? Do literary metaphors constitute a distinct and independent category from ordinary metaphors? There is a widespread notion among lay people and scholars alike that the “real” source of metaphor is in literature and the arts. It is believed that it is the creative genius of the poet and the artist that creates the most authentic examples of metaphor. When we examine this notion from the point of view of cognitive linguistics, we will find that the idea is only partially true, and that everyday language and the everyday conceptual system contribute a great deal to the working of the artistic genius.
The Partial Nature of Metaphorical Mappings
Authors: Kövecses Zoltán
Published: November 2023

It has been emphasized throughout that conceptual metaphors can be characterized by the formula a is b, in which a target domain, a, is understood in terms of a source domain, b. But this formulation of what conceptual metaphors involve is not precise enough. In the case of structural metaphors this would mean that an entire target concept is understood in terms of an entire source concept. However, this cannot be the case because concept a cannot be the same as another concept b. In discussing this issue the idea of mappings is relevant. It’s been pointed out that a conceptual metaphor of the structural kind is constituted by a set of mappings between a source and a target. However, the mappings between a and b are, and can be, only partial. Only a part of concept b is mapped onto target a and only a part of target a is involved in the mappings from b. We need to ask which part(s) of the source are mapped onto which part(s) in the target.
Metaphorical Entailments
Authors: Kövecses Zoltán
Published: November 2023

So far we have seen that conceptual metaphors consist of a set of mappings between a source and a target. Certain aspects of the source and those of the target are brought into correspondence with each other in such a way that constituent elements of the source correspond to constituent elements of the target.
Mammalian Hematopoietic Development and Function
Authors: Spangrude Gerald J
Published: November 2023

The origins of the mammalian immune response are found in hematopoiesis. Most of the diseases discussed in this book are mediated by mutations in genes that function during the course of hematopoietic development at the level of the progenitors for specific cell lineages (severe combined immunodeficiencies) or at the level of the expression of signaling molecules that promote differentiation (MHCII deficiency), or at the level of the functional potential of mature effector cells (leukocyte adhesion deficiency, chronic granulomatous disease). The common theme throughout the diseases discussed in this volume is the origin of the cellular components of specific and nonspecific immunity, the hematopoietic stem cell (HSC). While specific mutations in particular genes can result in defects in highly specialized mature cell populations, the resulting immunodeficiencies are distinguished by the biochemical result of the disrupting mutation and not by the developmental origin of the defective cellular response. This presents both an opportunity and a caution in the design of therapies for some of these diseases.
Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses
Authors: Jalkanen Sirpa , Salmi Marko
Published: November 2023

A productive interaction between a lymphocyte and its cognate antigen is required to trigger an adequate immune response. Thus, it is not only the defects in the production and maturation of lymphocytes or in the activation machinery that can result in immunodeficiencies, but the same outcome can be seen if otherwise normal cells do not migrate properly within the body in search of foreign antigens. The best-known examples of this class of diseases are leukocyte adhesion deficiencies 1 and 2 (LAD1 and 2, see Chapter 38). The impact of proper lymphocyte recirculation between blood and different tissues and within the tissue stroma for eliciting an immune response already becomes evident by looking at the physical dimensions of our immune system.
Phagocytic System
Authors: Yang Kuender D , Quie, Paul G , Hill Harry R
Published: November 2023

Phagocytes were initially thought to be harmful to the host, contributing to the untoward consequences of infection and inflammation. In 1898, Metchnikoff first suggested that “the essential and primary element in typical inflammation consists in a reaction of the phagocyte against a harmful agent.”After establishing that phagocytes were helpful in defense against bacteria, Metchnikoff predicted that defects in phagocyte function might predispose the host to increased numbers and severity of infections due to microorganisms. Patients with decreased phagocyte counts or with phagocyte functional defects do, in fact, have recurrent or even fatal infections as well as impaired wound healing. Moreover, evidence has also accumulated demonstrating that aberrant phagocyte activation can contribute to untoward complications of inflammation. Functional defects in phagocytes can lead to recurrent cutaneous abscesses, periodontitis, paronychia, pneumonitis, osteomyelitis, and occasionally life-threatening sepsis.
Autosomal Recessive Severe Combined Immunodeficiency Due to Defects in Cytokine Signaling Pathways
Authors: Candotti Fabio , Notarangelo Luigi
Published: November 2023

The finding that cytokine receptors that use the δc always associate with the intracellular Janus-associated tyrosine kinase (JAK) designated JAK3 (Fig. 10.1) and the discovery that the major cytokine receptor transducing subunit binds to another JAK kinase, JAK1 (Miyazaki et al., 1994; Russell et al., 1994), provided clues to the molecular basis of AR B+ SCID. A mild form of X-linked SCID in humans was shown to result from a point mutation in the cytoplasmic tail of γc, diminishing but not completely abolishing its interaction with JAK3 (Russell et al., 1994). On the basis this information, it was hypothesized that AR B+ SCID in humans could be caused by defects in JAK3. This hypothesis was proved correct by two groups of investigators who reported markedly reduced expression of JAK3 protein due to mutations in the JAK3 gene in unrelated infants with B+ SCID (MIM *600173, #600802) (Macchi et al., 1995; Russell et al., 1995; Candotti et al., 1997; Online Mendelian Inheritance in Man, 2000).
Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency
Authors: Salle Henri De La , Donato Lionel , Hanau Daniel
Published: November 2023

Human leukocyte antigen (HLA) class I molecules present peptides derived from proteins that are synthesized in the cell to cytotoxic α β CD8+ T lymphocytes. In this way, these molecules are involved in immune responses against intracellular pathogens and cancer cells. Although these molecules should a priori be essential to immune defense and thus to survival, a few cases have been described of children or adults who live with a defect in the expression of HLA class I molecules.
CD40, CD40 Ligand, and the Hyper-IgM Syndrome
Authors: Geha Raif S , Plebani Alessandro , Notarangelo Luigi D
Published: November 2023

Immunodeficiency with hyper-IgM (HIGM) is a rare congenital disorder, characterized by recurrent infections and very low levels of serum IgG, IgA, and IgE, with normal or elevated IgM (Notarangelo et al., 1992). Both primary and acquired forms of the disease have been reported. Among primary HIGM, X-linked (Krantman et al., 1980; Benkerrou et al., 1990), autosomal recessive (Pascual-Salcedo et al., 1983; Benkerrou et al., 1990; Revy et al., 2000; Ferrari et al., 2001, Imai et al., 2003b), and possibly autosomal dominant (Beall et al., 1980; Brahmi et al., 1983) variants are known, accounting for genetic heterogeneity. Acquired HIGM may be secondary to congenital rubella (Schimke et al., 1969; Espanol et al., 1986; Benkerrou et al., 1990), neoplasia (Raziuddin et al., 1989), or use of antiepileptic drugs (Mitsuya et al., 1979). The disease, originally named dysgammaglobulinemia, was first described in 1961 in a 15-year-old boy with recurrent pneumonia, meningitis, and lymphadenopathy (Burtin, 1961), and in two male brothers with a history of recurrent bacterial infections (Rosen et al., 1961).
Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance
Authors: Torgerson Troy R , Gambineri Eleonora , Ziegler Steven F , Ochs Hans D
Published: November 2023

In 1982, Powell and colleagues reported on a large family with multiple affected males in a five-generation pedigree (Fig. 26.1). Affected males presented early in life with multiple endocrinopathies, severe chronic enteropathy, dermatitis, autoimmune hemolytic anemia, and antibody-induced neutropenia and thrombocytopenia. Most of the affected boys died before the age of 3 years of malabsorption, failure to thrive, infections, or other complications. Characteristic findings at autopsy of these and subsequently identified patients included lymphocytic infiltrates affecting the lungs and endocrine organs such as pancreas and thyroid, and increased lymphoid elements in lymph nodes and spleen (Powell et al., 1982; Wildin et al., 2002). Symptomatic therapy with immunosuppressive drugs provided some beneficial effects (Seidman et al., 1990).
Hyper-IgE Recurrent Infection Syndromes
Authors: Grimbacher Bodo , Puck Jennifer M , Holland Steven M
Published: November 2023

Hyper-IgE recurrent infection syndrome (MIM %147060, #243700) is a primary immunodeficiency characterized by recurrent staphylococcal skin abscesses, pneumonias with pneumatocele formation, extreme elevations of serum IgE, eosinophilia, and distinct abnormalities of the connective tissue, skeleton, and dentition (Davis et al., 1966; Buckley et al., 1972; Hill and Quie, 1974; Donabedian and Gallin, 1983a; Belohradsky et al., 1987; Grimbacher et al., 1999a; Erlewyn-Lajeunesse, 2000). History “So went Satan forth from the presence of the Lord, and smote Job with sore boils from the sole of his foot unto his crown.” With this citation from Job II:7, Davis, Schaller, and Wedgewood coined the term Job syndrome in 1966 (Davis et al., 1966). They reported two red-haired, fair-skinned girls who had frequent sinopulmonary infections, severe dermatitis, and recurrent staphylococcal skin infections that were remarkable for their lack of surrounding warmth, erythema, or tenderness. The syndrome was further defined and clarified by Buckley et al. (1972), who noted similar infectious problems in two boys with severe dermatitis, distinctive facial appearance, and elevated IgE levels, leading to the term Buckley syndrome. Following this report, elevated levels of IgE and a defect in neutrophil chemotaxis were reported in the two girls from the initial report (Hill and Quie, 1974), showing that Job syndrome and Buckley syndrome represented the same condition. To avoid further confusion, the name hyper-immunoglobulin E recurrent infection syndrome (HIES) is now widely used. In 1999 a group at the U.S. National Institutes of Health (NIH) undertook to define further the phenotype of HIES. The incidence of 19 clinical features associated with HIES was published, based on a cohort of 30 patients with the disease (Table 34.1) (Grimbacher et al., 1999a).
Inherited Hemophagocytic Syndromes
Authors: Basile Geneviève De Saint
Published: November 2023

Several hereditary disorders of the immune system are characterized by the occurrence of a similar T lymphocyte and macrophage activation syndrome, also called hemophagocytic lymphohistiocytosis (HLH) syndrome or accelerated phase of the disease, which is generally fatal in the absence of treatment. Hemophagocytic syndrome is characterized by lymphoid organ and extranodal infiltration by polyclonal activated T cells and activated macrophages that phagocytose blood cells (Table 41.1). HLH is in most cases triggered by a viral infection, especially of the herpes group (Epstein-Barr virus [EBV], cytomegalovirus [CMV]). Four inherited disorders have been identified that lead to HLH syndrome (Dufourcq-Lagelouse et al., 1999b): the familial hemophagocytic lymphohistiocytosis (FHL) (MIM 267700), the Griscelli syndrome (GS) (MIM 214450), the Chediak-Higashi syndrome (CHS) (MIM 214500), and the X-linked lymphoproliferative syndrome (X-LP) (MIM 308240). Only FHL and GS will be discussed in this chapter, the two other disorders being addressed in other chapters (Chapters 19 and 31). The primary causes of HLH should be distinguished from lymphohistiocytic proliferation with hemophagocytosis, which develops secondary to severe infections in an immunocompromised host, or during the course of malignancies.
Judaism Resurgent? American Jews and the Evolving Expression of Jewish Values and Jewish Identity in Modem American Life
Authors: Ellenson David
Published: November 2023

In 1943, at the height of the Holocaust and at a moment of intense agitation for the creation of a Jewish state, Joseph Proskauer, then president of the American Jewish Committee, authored an AJC-sponsored “Statement of Views.” Addressed to world leaders who would eventually frame the terms of an armistice and dictate postwar conditions of peace, the document stated: “We urge upon the United Nations and those who shall frame the terms of the peace the relief from the havoc and ruin inflicted by Axis barbarism on millions of unoffending human beings, especially Jews.” In commenting upon this statement, historian Marc Dollinger has observed that “the AJC’s decision to focus on ‘human beings’ first and list ‘Jews’ second reflected Proskauer’s universalist orientation.
The First Freedom and the Rehnquist Court
Authors: Noonan John T
Published: November 2023

I must begin this chapter with a dissent-a dissent from the rubric under which the conference has placed the presentation: “Church and State.” We don’t have a Church in the United States. We have churches, mosques, synagogues, temples, zen sanctuaries. We have religions, at least 1,400 of them. We have believers, 167 million of them. We have consciences, 273 million of them. It is in relation to the 1,400 religions, the 167 million believers, the 273 million consciences that the activities of government stand. And we have units of government, not a State. We have a federal government, all three of whose parts, not excluding the judiciary, act upon religions, believers, and consciences. We have fifty states also divided into parts. We have thousands of school boards, municipalities, counties, zoning agencies, state universities, city transit systems, and so on, all of whose operations may impinge upon the fundamental constitutional freedom that is the first freedom secured by the Bill of Rights. Let us banish for good the obsolete European usage of speaking of Church and State.
The Constitutional Jurisprudence of the Rehnquist Court
Authors: Chemerinsky Erwin
Published: November 2023

I was honored in 1997 when Bernard Schwartz called to ask me to present a paper on the constitutional jurisprudence of the Rehnquist Court. I have so admired Professor Schwartz’s work and tremendously looked forward to meeting him at this symposium. In our telephone conversation, my immediate response to the topic was to ask him if he thought that there was a constitutional jurisprudence of the Rehnquist Court. He chuckled and said that he’d be interested in what I had to say about that.
The Rehnquist Court and State Constitutional Law
Authors: Garibaldi Marie L
Published: November 2023

On September 26, 1986, William Rehnquist was sworn in as Chief Justice of the United States Supreme Court. At that time the renaissance in state constitutional law was at its peak and the Supreme Court had decided Michigan v. Long. My task today is to discuss how the Rehnquist Court affected state constitutional law. As background, I discuss some general principles concerning state constitutional law prior to the Long decision. Then, I examine the response of the Rehnquist Court and state courts to the plain-statement requirement of Long, focusing specifically on the vexing problem of how a state court determines that its constitution provides greater protection of individual rights than are afforded under similar or identical federal constitutional provisions. Finally, I hope to demonstrate that the “criteria approach” used by the Supreme Court of New Jersey best balances the dual concerns of a state court, which are (1) to prevent its state constitution from becoming a mere shadow of the federal Constitution, and (2) to ensure that its state constitution does not unduly expand its citizens’ rights so that they bear only a slight resemblance to the protections found under parallel provisions in the federal Constitution.
The Importance of Dialogue:Globalization, the Rehnquist Court, and Human Rights
Authors: L’heureux-Dubé Claire
Published: November 2023

There are two aspects of any review of the Rehnquist Court from a global perspective: the Court’s impact on courts in other parts of the world and on international law and the impact of others courts and international law on its decisions.
Solving Seizure Mechanisms by Simulations
Authors: Somjen George G
Published: November 2023

Computers cannot discover what is, but they can define what may be-provided, of course, that the parameters incorporated in the program are congruent with reality. Most of our problems in cerebral biophysics are too complex and difficult to solve analytically, but they can be approached with numerical simulations. In view of the multitude of interacting variables governing brain function, when slide rules and adding machines are inadequate, digital computers are needed. The development of desktop computing power has brought realistic simulations within the reach of neuroscientists.
Membrane Potential and Input Resistance during Spreading Depression
Authors: Somjen George G
Published: November 2023

Ever since its discovery, there has been a debate about the source and the mechanism of the electric signs that accompany SD-chiefly, whether the primary generator is neuronal or glial. This chapter reviews the electrophysiology of the cells involved in the SD process.
Solving the Puzzle of Spreading Depression by Computer Simulation
Authors: Somjen George G
Published: November 2023

Several mathematical models of SD have been published (Grafstein, 1963; Nichol son, 1993; Reggia and Montgomery, 1996; Revett et al., 1998; Shapiro, 2001; Tuckwell, 1981; Tuckwell and Miura, 1978). These computations were more concerned with the propagation of SD than with its initiation and its biophysical membrane mechanism. This chapter first presents the results of our simulation of the membrane events producing SD-like depolarization in a single model neuron. Propagation of SD is the topic of a later section (“Mechanisms of spreading de pression propagation”).
Mechanism of Early, Reversible Hypoxic Synaptic Failure
Authors: Somjen George G
Published: November 2023

The most common manifestation of impaired blood flow to the brain is fainting, which can be caused by strong emotions, orthostatic hypotension, or a variety of other conditions, some benign, some not. Fortunately, in most cases it is readily reversible. Consciousness is lost in these cases by impairment of synaptic trans mission in critical neuron circuits.
Why Measurement Matters
Authors: Esty Daniel C
Published: November 2023

Environmental decision-making has long been plagued by uncertainties and a lack of critical information. The data and analyses needed—by governments, companies, and individuals—for thoughtful and systematic action to minimize pollution harms and to optimize the use of natural resources are often unavailable or seem too costly to obtain. As a result, choices are made on the basis of generalized observations and best guesses, or worse yet, rhetoric and emotion. We stand, however, on the verge of an opportunity to transform our approach to pollution control and natural resource management through deployment of digital technologies in support of a more careful, quantitative, empirically grounded, and systematic environmentalism. This volume explores how better data and greater emphasis on statistical analysis might strengthen environmental problem solving in the policy and corporate worlds.
The social and financial burden of late-life depression to society and individuals
Authors: Lebowitz Barry D , Olin jason T
Published: November 2023

Depression in late life is common, serious, and underappreciated as a source of disability and suffering for older people and their families (Geriatric Psychiatry Alliance, 1997). Depression at any age is a matter of concern. In later life, depression is particularly important because of its widespread impact. Unrecognized and untreated depression in older persons is a significantly disabling condition in its own right. That clinical fact ought to be enough to merit significant attention. Beyond the suffering of depression, however, we have learned that depression is a source of considerable and unnecessary excess disability in older persons afflicted with a broad variety of chronic illnesses. Moreover, beyond even that, current studies have clearly shown that depression is a fatal illness in older people. Despite the compellingly solid and substantial body of research in this area, recognition of depression remains problematic and is often attributed to normal developmental changes in aging. Even when it is recognized, and despite the clear data on the efficacy and effectiveness of treatment, the adequacy and appropriateness of care are highly variable.
Bipolar disorders
Authors: Young Robert C
Published: November 2023

Elderly patients with mania and bipolar (BP) disorders constitute a substantial subgroup among elderly patients presenting for psychiatric treatment, and they often have severe illness that requires high use of services. These patients have diverse clinical characteristics, comorbidities, and presumed etiologies and pathophysiologies. Their illness courses and outcomes differ widely among individuals, and their response to interventions is difficult to predict. Age-associated factors contribute to these dimensions of heterogeneity and this discussion is organized around age and age-at-onset of illness.
Mixed cognitive and depressive syndromes
Authors: Lavretsky Helen , Small Gary W
Published: November 2023

Depression and dementia are the most frequently occurring psychiatric syndromes in elderly populations (Blazer and Williams 1980; Caine et al., 1994). The two disorders often coexist. There are multiple streams of evidence for a relationship between affective and cognitive symptoms and syndromes in elderly persons. However, our understanding of the pathophysiology and possible common pathways of both disorders is limited.