bluuebunny/crossref_metadata_2025 huggingface dataset:
Reflex Sympathetic Dystrophy, Reflex N eurovascular Dystrophy, and Complex Regional Pain Syndromes
Authors: Lehman Thomas J A
Published: November 2023

Fourteen-year-old Cindy was the ultimate figure skater. Her parents had met while skating in college. Briefly after college, her father had skated professionally, but shortly after graduating from college her mother stopped skating so they could start a family. Cindy’s father was now a successful businessman, and Cindy’s mother stayed home to promote Cindy’s development as a figure skater. Cindy had been skating for as long as she could remember. But for the past six months Cindy had been unable to skate because of ankle pain. There was no doubt about how Cindy’s ankle was injured. Hundreds of spectators witnessed her fall at the regional skating championships. X rays did not show a fracture but her orthopedist immediately placed her foot in a cast to rest the ankle and make sure it healed properly.
The Care Of vulnerable Populations
Authors: Pearson Steven D , E.Sabin James , Emanuel Ezekiel J
Published: November 2023

Deborah Jones is a single mother of three children: 5, 3, and 1 years old. She burst into tears in the pediatrician’s office when the doctor reminded her that the two younger children were behind in their immunizations. Ms. Jones had been worried about this, but she already had missed too much work caring for the kids when they were ill, and she was afraid she would lose her job (and thus her health insurance) if she took any additional time for their well-child care appointments. Unfortunately, there didn’t seem to be an easy solution to her problems. She left the office with a fistful of new weekday appointments with the pediatrician, but she had already decided that she would have to try another option: she would take the kids to the emergency room on the weekend with “sore throats “ and hope they could get their vaccinations then. Yefimia Shlapakova is a 63-year-old woman who recently immigrated to the United States from Russia. She arrived with empty bottles of “heart “ pills labeled in Russian. Having qualified for a state managed care Medicaid program, she was taken to her first doctor’s appointment by her nephew, who had been in the United States for three years but still did not speak English well. Nervous yet proud, Ms. Shlapakova spoke forcefully in her native language to her doctor, Dr. Crocker, who smiled and turned to the nephew for a full translation but got only a fraction of what the patient said. The physical examination soon revealed, however, that Ms. Shlapakova had severe hypertension and showed signs suggesting chronic renal failure as well. Ms. Shlapakova nodded affirmatively, and pointed meaningfully to her empty pill bottles. Her nephew said these medicines were the only ones that had ever worked for her and that other hypertension medicines made her very sick. Ms. Shlapakova made clear by her gestures that she would only take the medicines she was familiar with. Dr. Crocker picked up the empty bottles, squinted at them, and sighed. Even when he had Ms. Shlapakova read the names out loud, he didn’t recognize any of them. Dr. Crocker stepped out of the exam room, called the Russian interpreter’s office located in the clinic, and asked that an interpreter be sent over to help sort things out. Dr. Crocker knew that the Russian interpreters always took new patients like Ms.
Introduction Knowledge as Competitive Advantage in the Age of Increasing Globalization
Authors: Ichijo Kazuo , Nonaka Ikujiro
Published: November 2023

This book reflects our contention that the knowledge-based management of corporations is at the center of what management has to do in today’s fast-changing global environment. It is the fundamental purpose of the book to provide managers with the understanding and tools for successfully employing knowledge management in their organizations. In this phase of globalization, much manufacturing and back office work is being transferred across geographical boundaries, often to countries with newly developing technological capabilities. At the same time, many firms are moving operations to the more developed world to create and offer knowledge and knowledge-based services that, at least at the present time, can be done only in these countries. This emphasis on change in the global environment puts knowledge management at the heart of what organizations need to do to cope with today’s fast-changing environment. Therefore, the success of a company in the twenty-first century will be determined by the extent to which its leaders can develop intellectual capital through knowledge creation and knowledge-sharing on a global basis. Knowledge constitutes a competitive advantage. Knowledge creation and imagination have never been more important than in this age of globalization since, in the flat world described by Thomas L. Friedman, so many of the inputs and tools for collaboration are becoming commodities, available to everybody.
Does the approach of menopause mean the end of fertility?
Authors: Segal Sheldon J , Mastroianni Luigi
Published: November 2023

There is an age-related decrease in fertility. As the biological clock ticks toward the menopausal years, women have a lower and lower chance of becoming pregnant, regardless of whether this probability is calculated on the basis of an annual or monthly chance of establishing a pregnancy by age or on the basis of chances of conception with a single act of sexual intercourse. Fertility potential declines rapidly after the age of 35 and even more dramatically after 40 (table 7.1). At the start of perimenopause, the irregularity of ovulation begins to lower fertility: the fewer the eggs, the fewer the opportunities to establish a pregnancy. However, even perimenopausal women who continue to have regular menstrual periods find that their fertility is substantially reduced. For a long time scientists, unable to come up with a provable theory to explain this, shrugged it off as the “aging egg” phenomenon, with no further elucidation of why it happens. Now, research is delving into more rational and detailed explanations.
Why should men consider androgen supplementation therapy?
Authors: Segal Sheldon J , Mastroianni Luigi
Published: November 2023

It has not escaped men’s attention that physical, mental, and emotional changes mark their advancing years. It may hit home when friends joke about their midlife crisis, senior moments, lack of concentration, tiredness, nervousness, or irritability. The idea that something can be done about these age-related symptoms is appealing and has sparked growing interest. Some men start to use androgens with great expectations, ranging from enhanced sexual prowess to youthful physical robustness. Elderly males hope that taking hormones will help them dodge the fate of old age: lethargy, memory loss, and frailty. Hormone therapy is gaining popularity among men, but the benefits they anticipate from this therapy are sometimes unrealistic. The reality is that androgen replacement is no more of a pathway to eternal youth for men than HT is for menopausal women. Like any other medication, androgens carry benefits and risks and should be considered in this context. As men age, their body composition changes. Lean body mass (mainly muscle) decreases while fat increases; muscle strength and energy levels also decline. There is no single cause for these changes. It is a delusion to think that such changes can be put off indefinitely by so simple a solution as testosterone supplementation. The search for the golden testicle has proven as futile as the quest for the fountain of youth.
What are the AST choices for men?
Authors: Segal Sheldon J , Mastroianni Luigi
Published: November 2023

Hormone replacement therapy for the aging man has a rich vocabulary. Some terms have been invented to fit specific products, and others are meant to convey a particular point of view about aging in men. Terms have even been adopted from the vernacular of the body-building cult, to whom the anabolic merits of testosterone are not unfamiliar. The term “male menopause” is probably the easiest understood by the general public, even though it is derived from the words meaning the “end of menstruation.” If mentioning andropause causes a puzzled gaze, adding, “male menopause” serves to clarify quickly. The old-fashioned term “male climacteric,” also adopted from its female counterpart, still survives. Specialists in the field of andrology (the male equivalent of gynecology) have favored “andropause.” Yet, it is still more likely to be found in crossword puzzles than in Florida cocktail party conversation. Conveying greater precision, “androgen deficiency in the aging male” (ADAM), or “partial androgen deficiency in the aging male” (PADAM) have evolved in professional usage. Even more precise is the term “partial endocrine deficiency in the aging male” (PEDAM). Although it is not often used, this term conveys the most complete information. It differs from the others because it encompasses endocrine changes other than androgens, such as the drop in thyroid hormone production, growth hormone, or insulin fluctuations with aging.
Questions about andropause
Authors: Segal Sheldon J , Mastroianni Luigi
Published: November 2023

Not exactly, but many men experience aging changes similar to some of the changes of a woman’s menopause. They tend to lose muscle mass and strength and gain abdominal fat. Their bones lose density because of calcium depletion so that they can develop osteoporosis or the less severe degree of the condition known as osteopenia. Men do not experience hot flashes as they age, but mood changes, memory loss, and impairment of other brain cognitive functions are not different from the experience of aging women. Unlike the female menopause, which is part of women’s genetic constitution, this set of changes is not predestined to happen to all men. A man’s testes can keep working throughout his lifetime but, with aging, the function of the testes may become impaired because of aging conditions that block blood supply to either the testes or the pituitary gland or interfere with nerve systems.
Introduction
Authors: Mccormmach Russell
Published: November 2023

Let me begin with a comment on the title of this book. In the eighteenth century, as today, the word “speculative” could be used to belittle, but normally it was not. In 1797 the Encyclopaedia Britannica gave the object of natural philosophy as “speculative truth.” The natural philosopher was, at times, the “speculative philosopher” and his work “speculative philosophy.” Likely to be concerned with forces and the properties of matter,2 a speculative philosopher was one who contemplated nature within a scientific framework, and who undoubtedly also made experiments and observations.
Natural Philosophers
Authors: Mccormmach Russell
Published: November 2023

If we consider the difference there is between natural philosophers, and other men, with regard to their knowledge of phenomena, we shall find it consists not in an exacter knowledge of the efficient cause that produces them, for that can be no other than the will of the Deity; but only in a greater and more enlarged comprehension, by which analogies, harmonies, and agreements are described in the works of nature, and the particular effects explained; that is, reduced to general rules, which rules grounded on the analogy and uniformness observed in the production of natural effects, are more agreeable, and sought after by the mind; for that they extend our prospect beyond what is present, and near to us, and enable us to make very probable conjectures, touching things that may have happened at very great distances of time and place, as well as to predict things to come; which sort of endeavour towards omniscience is much affected by the mind.
Theories
Authors: Mccormmach Russell
Published: November 2023

Natural philosophers expressed their convictions with various degrees of forcefulness: great confidence, bordering on mathematical certainty; prudent open-mindedness, inviting criticism; and tentativeness, often in the form of questions. Newton had a just appreciation of the power of the question. “This brilliant genius,” Einstein wrote of Newton, “who determined the course of western thought, research, and practice like no one else before or since,” was led to his greatest achievement by a “question”: Is there a simple rule by which the motions of the planets can be calculated? His answer to this question was, as we know, a book, the Principia. Like Einstein, drawn to riddles, Newton viewed the universe as a hard riddle indeed. He did not solve it completely, but he gave it a clear formulation, and he turned the riddle into a productive genre of scientific exchange, “Queries.” Through his queries, he left challenges and hints for his successors, backed by his infectious curiosity about the universe and his optimism about science.
Henry Cavendish’s Researches
Authors: Mccormmach Russell
Published: November 2023

At the start, let us have before us an image of the man: Illustration 4 shows how Cavendish looked near the end of his life. As he walks, his left arm is bent around the small of his back, while his right arm is crooked across his chest, his hand wedged inside the collar of his coat, as if applying torsion to his upper body, conveying the idea of a taut spring. Leaning slightly forward, looking dead ahead, he goes directly after whatever it is he desires. He is not heavy, but beginning to thicken, his rumpled coat hitching over his hips. Emerging from beneath a three-cornered hat, hanging down his back, is a knocker-tailed wig, long out of date. His appearance is decidedly unprepossessing. The sketch from which we learn these particulars was made surreptitiously, since he steadfastly refused to sit for portraits.
From one language to the next: Why is it hard to learn a second language? Why is translation so difficult?
Authors: Napoli Donna Jo
Published: November 2023

In the first chapter we looked at first language acquisition. There are important differences between acquiring a first language—a process that happens naturally to any child who is not linguistically deprived—and learning a second. The use of “acquiring” in one case and “learning” in the other is not accidental. Scholars debate, in fact, whether or not the cognitive faculties that are employed in second language learning are distinct from those employed in first language acquisition, and most of the evidence suggests that they are.
Do men and women talk differently? and who cares?
Authors: Napoli Donna Jo
Published: November 2023

In earlier chapters, I discussed three important factors that influence language change: the fact that people don’t all hear the same (chapter 7), the fact that people don’t all repeat in the same way (also chapter 7), and contact among different languages (chapter 8). But even if there were a linguistic community in which people actually did all hear and repeat language in the same way and even if that community were monolingual and totally isolated from other linguistic communities, its language would change over time because other factors influence language change, factors internal to a society. In this chapter we’ll look at the interaction of gender roles and language, but first let’s briefly face a larger question.
Under the Lordship of the King
Authors: Restall Matthew
Published: November 2023

Some wars have two names. What Russians call the Great Patriotic War is known in the West as the Second World War. The Mexican-American War is, to those south of the border, the War of the North American Invasion. But the Conquest of Mexico has no other name. Nobody has ever called it, at least in print, the War of the Spanish Invasion, or the Spanish-Mexica War. The same is true for the Conquest of Peru, the Conquest of Yucatan, and so on. These conventional titles to the components of the Conquest are taken for granted as simple, neutral descriptions. But they are hardly that. For in assigning “conquest” to the entire process of Spanish exploration, expansion, discovery, and invasion, that process is placed within a framework in which events move inexorably toward the inevitable climax of Spanish victory. Conquest history turns on symbolic Spanish accomplishments—such as a particular victory (or massacre) or the founding of a city.
Kent Greenes: Knowledge Management Is about Change
Authors: Chatzkel Jay L .
Published: November 2023

Kent Greenes has made knowledge management work to achieve significant outcomes both as chief knowledge officer and as senior vice president at SAIC, a diverse scientific research and engineering company, and formerly at BP Amoco, where he was head of knowledge management and where he created an internationally recognized knowledge management practice. His role at SAIC is to harness the power of learning across the organization and its subsidiaries and to develop new business opportunities based in the emerging knowledge economy.

This conversation is an opportunity to see how a context for knowledge management and an effective approach can be successfully introduced and implemented in organizations. Knowledge management is a process and an understanding as well as a set of tools and a strategy.
Living on the Island of Dr. Moreau: Grafting Tissues in the Early Twentieth Century
Authors: Lederer Susan E
Published: November 2023

In his 1896 novel, The Island of Doctor Moreau, English novelist H. G. Wells created a memorable and influential portrait of a surgeon, forced to leave London after the press reported the escape of dogs mutilated in his experiments. Far away in the South Seas, Doctor Moreau performs surgery in what the island inhabitants call the “House of Pain.” These surgeries produce “humanized animals”—wolf-hyena-man, ox-hog-man, and puma-woman—which Moreau regards as “triumphs of vivisection.” The surgical manipulation of the flesh and blood, as he informs a hapless, shipwrecked visitor to the island where he conducts his dark science, could accomplish many things:
The Future of Violence Risk Management
Authors: Monahan John
Published: November 2023

Injustice and inefficiency invariably flow from any blending of the criminal-law and mental health powers of the state. Each is sufficient unto itself to achieve a just balance between freedom and authority; each has its own interested constituency; when they are mixed together, only the likelihood of injustice is added. (Morris 1982, p. 31) Despite this prescient warning, a blending of the criminal justice and mental health systems is exactly what is happening in the United States, and what may be on the verge of happening in the United Kingdom as well. On the mental health side, the blending has taken the form of a resurgent emphasis on the state’s police power as the principal justification for the civil commitment of people with serious mental disorder who have committed no crime but who are believed to be “dangerous to others.” The result has been the first significant loosening of the 1960s-era libertarian-oriented standards for involuntary treatment as a hospital inpatient, and the first meaningful laws ever that allow for involuntary treatment in the community. On the criminal justice side, the blending has come as statutes have proliferated, and been upheld, authorizing the indefinite civil commitment in a mental hospital of convicted offenders who are believed to have a “mental abnormality”—which need not rise to the level of a “mental disorder”—and are found likely to recidivate. To date, these statutes have been limited to offenders convicted of sexually violent offenses, but proposals have been introduced in the United States and in the United Kingdom to expand them to the perpetrators of any form of violent act. Both of these moves toward convergence have been facilitated by developments in the professional technology that enables their operation: violence risk assessment. After two decades of largely depressing research on the abilities of mental health professionals at predicting violence, the journals are suddenly replete with guardedly optimistic studies indicating that actuarial instruments may succeed where clinicians have failed.
Nutritional Assessment—All Levels And Ages
Authors: Ekvall Shirley W , Ekvall Valli K , Walberg-Wolfe, Jennifer , Nehring Wendy
Published: November 2023

Nutritional assessment, an essential task of the nutritionist and dietitian, is an important disease prevention measure that has been shown to reduce health-care costs. One of the early position papers of the American Dietetic Association on health care noted that in terms of money and human suffering, every dollar spent on nutrition instruction saves many dollars in later medical care. Kennedy and Kotelchuck reported that participation of prenatal patients in the USDA Special Supplemental Food Program for Women, Infants, and Children (WIC), which includes nutrition education, has a positive effect on pregnancy outcome: a 107 g increase in mean birth weight and a 4% decrease in the incidence of low birth weight. High-risk teenage, African-American, and Hispanic women gained even stronger benefits, particularly when they were followed for two trimesters. Malnourished patients often are hospitalized 2–5 days longer than nonmalnourished patients, resulting in additional costs of over $1000 per day. Also, nutritionists/dietitians on nutrition support or feeding teams helped reduce the incidence of malnutrition. The savings ranged from $1700 over a 4-month period to $8100 per year. However, only one-fifth of the patients received home counseling or another form of posthospitalization follow-up care. Butterworth and Blackburn found that protein-calorie malnutrition affected one-fourth to one-half of medical and surgical patients whose hospitalization lasted 2 weeks or longer,5 and many children today are at high risk due to obesity and poor nutritional habits. These problems have increased in the past 10 years. However for the undernourished lower fat free mass or lean body mass was significantly associated with increased length of hospital stay when using the Subjective Global Assessment questionnaire. This combination is more sensitive than weight loss of 10% or body mass index for older children and adults.
Prader-Willi Syndrome
Authors: Mccune Helen , Driscoll Daniel
Published: November 2023

Prader-Willi syndrome (PWS) is a complex multisystem syndrome that occurs with a frequency of approximately 1/10,000 to 1/20,000 and has significant morbidity, including central hypotonia, mild mental retardation/developmental disabilities, a characteristic behavior disorder, growth deficiency, obesity compounded by a centrally driven excessive appetite (hyperphagia), growth hormone deficiency, and hypogonadism. It is the most commonly known genetic cause of obesity. Prader-Willi syndrome is one of the best examples of a pattern of inheritance called genomic imprinting. In contrast to Mendelian inheritance, the imprinted genes have differential expression, depending on the parental origin. In the 15q11–q13 chromosomal region, there are genes that are expressed only if they are paternally derived and others that are expressed only if maternally derived. Prader-Willi syndrome results from the loss of expression of paternally derived genes by a variety of mechanisms, which include large deletions (70%–75%), maternal uniparental disomy (UPD, 20%–30%), and imprinting defects (2%–5%).2,3 DNA methylation analysis will correctly diagnose more than 99% of cases and is the most sensitive genetic test available. It is also more sensitive than the clinical diagnostic criteria that were originally published in 1993 by Holm et al. Therefore, all patients suspected of having PWS should have definitive genetic testing since there is significant variability in the clinical phenotype (Table 16–1).
Rett Syndrome
Authors: Bibat Genila , Cuffari, Carmen , Naidu Sakkubai
Published: November 2023

Rett syndrome (RS), a neurodevelopmental disorder primarily involving girls, is characterized by a period of apparently normal development followed by the arrest of developmental skills. Distinctive features of RS include deceleration in velocity of head growth between 5 months and four years of age, resulting in microcephaly, stereotyped hand movements, psychomotor retardation with impaired language, and loss of purposeful hand use. Most patients have electroencephalographic abnormalities, but only half have recognizable clinical seizures. Respiratory irregularities in RS include periodic apnea during wakefulness and intermittent hyperventilation. The incidence of RS is approximately 1:10,000. It is pan-ethnic. Life expectancy is variable, with sudden unexplained death during sleep in children under 15 years of age, regardless of seizure control. The necessary criteria for the diagnosis of RS are shown in Table 17–1. However, a wide clinical spectrum has been recognized since the defective gene in RS was identified. With the increase in clinical recognition and advances in the neurobiology and molecular genetics of RS, a scoring system to facilitate comparison between the various clinical profiles of mutation-positive children and a revised set of criteria to clarify the ambiguities in language of the current diagnostic criteria5 were suggested.
Childhood Obesity
Authors: Ekvall Shirley W , Bandini Linda , Ekvall, Valli K , Curtin Carol
Published: November 2023

Obesity is the result of an energy imbalance. An individual is considered to be in energy balance when energy intake equals energy expenditure. When energy intake exceeds energy expenditure, the excess calories are stored as adipose tissue. An energy imbalance may occur when energy intake increases and energy expenditure remains the same; when energy intake remains the same and energy expenditure decreases; or when energy intake increases and energy expenditure decreases. The causes of energy imbalance are multifactorial and may include genetic, metabolic, psychological, and environmental factors. The prevalence of overweight in children and adolescents in the United States has been increasing since the 1980s. Current estimates in children are 10.4% in 2to 5-year-olds, 15.3% in 6to 11-year-olds, and 15.5% in 12to 19-year-olds.1 The number of children who are overweight has more than doubled over the past 20 years. Although the prevalence of obesity did not differ among racial/ethnic groups in the National Health and Nutrition Examination Survey (NHANES) III survey of 1988–1994, in the NHANES 1999–2000 survey the prevalence of overweight was higher in non Hispanic black, and Mexican-American children and adolescents than in white children and adolescents. Populations of children and adults with developmental disabilities such as myelomeningocele, Prader-Willi syndrome, and Down syndrome5–7 have been reported to have a higher prevalence of overweight than those in the general population.
Attention Deficit Hyperactivity Disorder
Authors: Ekvall Valli K , Ekvall, Shirley W , Mayes Susan
Published: November 2023

Hyperactivity is now called attention deficit hyperactivity disorder (ADHD). The diagnostic criteria for ADHD from the fourth edition of the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) are listed in Table 19–1. Attention deficit hyperactivity disorder is one of the most common neurobehavioral problems seen in children today. The symptoms are clustered, which makes the etiology more challenging to define. However, the general consensus is that ADHD is neurologically based, and positron emission tomography scans have shown differences between the brains of individuals with and without ADHD. The prevalence rate of ADHD is 6% in school-age children. This rate translates into approximately one to two children per average school classroom. The disorder occurs much more frequently in males, with a 4:1 to 9:1 ratio of males to females. The symptoms appear during the preschool years but are usually not diagnosed until the child is of school age. In most children with ADHD, symptoms persist into adolescence and adulthood. ADHD is also linked to a greater occurrence of mood and anxiety disorders, learning disorders, and oppositional-defiant disorder. Its occurrence is more common in first-degree biological relatives of those with ADHD. Approximately 20% to 30% of children with ADHD have one parent with ADHD.
Rumination
Authors: Ekvall Valli K , Ekvall Shirley W
Published: November 2023

The American Psychiatric Association specifies the diagnostic criteria for rumination in infancy as follows in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-R): Some aspects of the DSM-IV-R criteria were questioned after a 1992 review of publications on rumination disorder. Although 84% of ruminators described in the literature have problems with weight, 16% are not underweight or losing weight. The criterion “following a period of normal functioning” is also questionable because most ruminators, particularly those with developmental delays, were clearly not normal before the onset of rumination. Lastly, the rationale for the diagnostic requirement of rumination being present “for at least 1 month” is unclear and may interfere with prompt diagnosis and treatment of this potentially life-threatening disorder. A definition of rumination consistent with the existing literature is the voluntary and pleasurable repeated regurgitation of stomach contents without an organic cause.
Lead Toxicity And Pica
Authors: Huber Agnes , Ekvall Shirley W
Published: November 2023

The amount of lead, one of the heavy metals in our environment, has increased due to industrialization, increasing the lead burden in children and adults. Pica, the ingestion of nonfood items such as paint chips by children during the mouthing stage, can lead to frank lead toxicity. The interrelationship of lead toxicity and pica is a complicated one since it also involves several nutrients. Furthermore, lead toxicity and pica can occur independently of each other. Subclinical lead exposure and frank lead toxicity in children are worldwide problems. In the United States the first national data on blood lead levels in U.S. children were gathered by HANES II from 1976 to 1980. The data showed that 4% of children 6 months to 5 years old had blood lead levels above 39 µ,g/dL. The highrisk children within this group were black inner-city children, 12% of whom had increased blood lead levels, and children of low income families. However, increased blood levels were also found in some children of rural and high-income families. The major source of lead in the environment was thought to be lead-containing fuels and flaking lead paint in old houses, but lead was also obtained from drinking water and foods.
Juvenile Rheumatoid Arthritis
Authors: Simpson Suzanne , Haugen Margaretha
Published: November 2023

Juvenile rheumatoid arthritis (JRA) is a chronic, debilitating childhood disease characterized by inflammation of the synovial membranes and articular structures. This aberrant inflammatory process is manifested clinically as swelling, tenderness, and pain in the affected joints, which can lead to limitations of movement and flexion contractures.1 In addition, afflicted children may have bone atrophy and rarefaction with associated growth impairment. Systemic manifestations may occur, including rash, fever, fatigue, and nutritional issues such as poor appetite and weight loss. There is wide variation in prevalence rates among countries, ranging from 16 to 150 per 100,000 at risk.
Sickle Cell Anemia
Authors: Kalinyak Karen
Published: November 2023

Sickle cell anemia (SCA) is a genetic disorder in which a sickle gene (Hb S) is inherited from each parent. Persons with sickle cell trait (Hb AS) carry the sickle gene but under normal circumstances are completely asymptomatic. The sickle gene is prevalent in people of African, Italian, Sicilian, Egyptian, Turkish, Arabian, and Asiatic Indian background. In the United States, sickle cell disease is found predominantly in African Americans. About 1 of every 12 African Americans are asymptomatic carriers (have sickle cell trait), and approximately 1 of every 400 African American newborns have the disease. The sickle hemoglobin is the result of a single amino acid substitution of valine for glutamic acid in the sixth position of the beta globin chain. In contrast to the usual adult hemoglobin (Hb A), the sickle hemoglobin tends to polymerize when it undergoes deoxygenation. This process affects the shape of the red blood cell, forming elongated, stiff, less deformable sickleshaped cells that are rapidly destroyed and removed from the circulation. The two primary manifestations of SCA are severe hemolytic anemia and widespread vaso-occlusion and infarction of various organs and tissues. The hemolytic anemia is a result of the markedly shortened life span of the sickle cells, which survive in the circulation for only 9–11 days compared to 120 days for normal red blood cells. The clinical manifestations that reflect this ongoing hemolytic process include jaundice, pallor, weakness, and fatigue. The widespread vaso-occlusion is a result of the adherence of the stiff, less deformable sickle cells to the lining of blood vessels, which virtually plugs up the small vessels and thus obstructs blood flow to a particular tissue or organ.
Homocystinuria
Authors: Singh Rani
Published: November 2023

Homocystinuria can result from hereditary or acquired enzymatic deficiencies in either the remethylaton pathway of homocysteine to methionine or the trans-sulfuration of homocysteine to cysteine. Homocysteine occupies a central position in methyl metabolism, specifically methyl cycling involving methionine, homocysteine, and cysteine (Fig. 37–1). One fate of homocysteine is remethylation to synthesize methionine using the methyl donor from either 5-methyl-tetrahydrofolate (THF), with methyl cobalamin as coenzyme, or using the methyl donor from betaine, which is catalyzed by betaine-homocysteine methyl transferase. The other fate, the transulfuration of homocysteine, includes synthesis of S-adenosyl methionine (SAM), catalyzed by methionineS-adenosyltransferase to produce S-adenosylhomocysteine. Sadenosylhomocysteine is further hydrolyzed to homocysteine and adenosine. Most homocysteine is irreversibly converted to cysteine by cystathionine f3-synthase (Cf3S) using pyridoxal phosphate as a coenzyme.
Glutaric Acidemia Type I And 2-Ketoadipic Acidemia
Authors: Frazier Dianne
Published: November 2023

Glutaric acidemia type I (GAI), first described in 1975 by Goodman et al., is one of several rare autosomal recessive organic acidemias caused by a defect in the pathways of amino acid catabolism. It was designated “type I” to distinguish it from glutaric acidemia type II, or multiple acyl-coenzyme A (CoA) dehydrogenase deficiency, which is a defect of the mitochondrial respiratory chain affecting fatty acid oxidation as well as amino acid catabolism. A less well described disorder, 2-ketoadipic acidemia (KAA), results from an enzyme defect one step before the defect causing GAI. It too is believed to be inherited as an autosomal recessive disorder.
Insulin-Dependent And Type II Diabetes
Authors: Christensen Nedra
Published: November 2023

Diabetes is a leading cause of death in the United States and can be diagnosed in early childhood as well as throughout adulthood. In an October 1998 statistical report, the American Diabetes Association estimated that diabetes mellitus affects 15.7 million people in the United States, or almost 6% of the population (8.2% of the total population over age 20 and 18.4% over age 65), with a sex distribution of 7.5 million men and 8.1 million women.3 Of the total, approximately one-third are undiagnosed. Diabetes is characterized by insulin insufficiency, lack of insulin production, and/or resistance to insulin. Lack of diabetes control leads to hyperglycemia and is associated with a variety of serious complications, including retinopathy, nephropathy, neuropathy, and cardiovascular disease. The costs associated with diabetes in the United States were estimated to be $98 billion in 1997. This includes $44.1 billion in direct costs and an additional $54 billion in indirect costs due to disability and mortality. Health-care costs for a person with diabetes are three or more times greater than those for a person without diabetes.
Glycogen Storage Diseases
Authors: Kishnani Priya
Published: November 2023

Glycogen storage diseases (GSDs) are inherited disorders that affect glycogen metabolism. The first clinical description of a patient with a defect in glycogen mobilization was published in 1928 by Snappes and Van Creveld. Today over 12 forms of GSD have been identified, with a wide spectrum of clinical presentations and an overall frequency of approximately 1 in 20,000 to 25,000 live births. The classification of GSDs is summarized in Table 52–1. Several reviews of the general and clinical aspects of GSD and recommendations for treatment are available. This chapter will focus on liver GSD types I and III.
Rubinstein-Taybi Syndrome
Authors: Rubinstein Jack
Published: November 2023

In 1963, Taybi and Rubinstein published a report of a possible syndrome in seven children—two girls and five boys—with broad thumbs and great toes, as well as distinctive facial features, growth retardation, mental retardation, and cryptorchidism in boys. Ten years after that publication, I was informed that in 1957 Michail et al. had published in a French orthopedic journal a single case report of a 7-year-old Greek boy with the same constellation of findings. Common clinical findings in the Rubinstein-Taybi syndrome (RTS) include stature below the 5th percentile; poor early weight gain; head circumference below the 2nd percentile; and mental, motor, language, and social retardation, with intelligence often at a moderately retarded level. Commonly noted facial findings have a recognizable pattern. These findings include prominent forehead, broad nasal bridge, beaked or straight nose with the nasal septum extending below the alae nasi, antimongoloid slant of palpebral fissures, clinical hypertelorism, strabismus, highly arched and/or heavy eyebrows, epicanthi, minimal abnormalities of the external ears, mild micrognathia, grimacing smile, a highly arched palate, and dental irregularity and overcrowding (Fig. 53–1).
Williams Syndrome
Authors: Ekvall Shirley W , Morris Colleen
Published: November 2023

Williams syndrome (WS) is a complex condition involving multiple organ systems, unique personality characteristics, distinctive facial features, elastin arteriopathy, cognitive impairment (usually mild mental retardation), connective tissue abnormalities, and endocrine growth abnormalities. Over 99% of individuals with a clinical diagnosis of WS have a 1.6 Mb deletion of chromosome 7q11.23 that contains the 20 contiguous genes of the critical region for WS that encompasses the elastin (ELN) gene. The prevalence of WS in Norway was reported to be 1 in 7500 births. In 1961 Williams et al. described four young children in New Zealand with peculiar facies, supravalvular aortic stenosis (SVAS), and mental retardation. A year later, Beuren et al.6 reported three German patients with the same findings and questioned whether the association of SVAS, mental retardation, and facial characteristics constituted a syndrome. The following year Black and Bonham Carter7 noted that the facies of children with SVAS described by Williams and coworkers and those with idiopathic hypercalcemia described by Fanconi were quite similar and suggested that they had different manifestations of the same condition. In 1964, Garcia et al. demonstrated that the two conditions were the same when they published a case report describing SVAS and developmental delay in an individual who had a history of hypercalcemia. The syndrome was infantile hypercalcemia, SVAS, WS, or Williams-Beuren sundrome.” Jones and Smith pointed out in 1975,8 however, that not all children with WS have SVAS and hypercalcemia.
Nose
Authors: Cohen M Michael
Published: November 2023

Formation of the nose is entirely dependent on development of the forebrain. Any insult that prevents the brain’s frontal development may disturb the anatomy of the nose. Nasal develop- ment first becomes evident histologically as thickenings of ectoderm, called olfactory placodes, by 26 days postfertilization (stage 12). The placodes are normally widely spaced on the anterolateral aspect of the frontal prominence (Fig. 11-1). The placodes become distinc- tive topographically by invaginating to form the nasal pits. With the rapid expansion of the forebrain, the nasal pits appear to converge toward the anterior midline. The lateral rims of the nasal pits (the nasolateral processes) fuse with the maxillary processes, forming the alae nasi.
Teeth
Authors: D’Souza Rena N , Kapadia, Hitesh , Vieira Alexandre R
Published: November 2023

The presence of a complete and functional dentition is critical to the overall health and well-being of an individual. In fact, the size, shape, color, and alignment of teeth are determining characteristics of facial expression and impart uniqueness to each human. Individuals who lack a full complement of teeth as a result of disease, trauma, or genetic disorders often endure emotional hardship due to compromised facial aesthetics. Costly and sometimes complex dental care is needed to restore normal structure and function to dentition. Since teeth are critical for the proper mastication of complex food substances, inefficient grinding compromises digetion by salivary enzymes and may result in digestive problems. As seen in older individuals who have lost teeth to periodontal disease or dental caries, speech is often affected, as is vertical dimension and facial aesthetics.
Neuromuscular Systems Brain
Authors: Hunter Alasdair G W
Published: November 2023

The anatomy of the developing central nervous system (CNS) dominates embryonic topography in much the same way that function of the mature CNS dominates postnatal actions and behavior. The CNS is represented initially as an ectodermal plate, stretching the length of the dorsum of the embryonic disc. The margins of the plate become elevated during developmental stages 8–9 (days 18–20) and eventually roll into a tube during devel- opmental stages 10–12 (days 22–26). Closure of the tube begins at the level of the third somite and progresses bidirectionally from that point. The brain develops from the neural tube rostral to somite 4 and the spinal cord caudal to this level.
Spinal Cord
Authors: Hunter Alasdair G W
Published: November 2023

The lower end of the spinal cord is held by one or more of a number of tethering mechanisms that are most often associated with various forms of occult spinal dysraphism (OSD) (Fig. 17-1). In most cases the termination of the spinal cord is below the nor- mal level for age and it is frequently associated with a short and thickened filum terminale. The normal level of the end of the spinal cord within the spine varies during development. During the first trimester it occupies the entire length of the spinal canal, but by 6 months gestation it terminates at L3-L4, and at birth it is at L2-L3. It ends at the adult L1-L2 position by age 3 months. However, there is variation.
Muscle
Authors: Hall Judith G
Published: November 2023

Muscle is a quite unique organ within the body. It has the ability to produce movement and force in response to both internal and external stimuli. Changes in muscle mass and func-tion have major influences on the structure of other tissues and organ systems during fetal life as well as throughout infancy and childhood. The volume and weight of muscle are related to its use postnatally; however, muscle normally represents about 55% of body weight. Muscle size is dynamic and can atrophy or hyper- trophy depending on use. Muscle represents one of the largest and most distributed tissues in the body. Muscle tissue can have a variety of disturbances in its formation and morphogenesis, which lead to primary and secondary congenital anomalies.
Hands and Feet
Authors: Everman David B
Published: November 2023

Malformations of the hands and feet have been extensively described and characterized, in large part because they oc- cur commonly and are easily visualized by patients, family mem- bers, and physicians alike. The major categories of hand and foot malformations include short digits (brachydactyly), extra digits (polydactyly), fused digits (syndactyly), and deficient digits (oligodactyly). As with other types of malformations, hand and foot anomalies occur either in isolation or as a component feature of numerous syndromes. Many hand and foot malformations are heritable, often manifesting as isolated traits that are transmitted infamilies through many generations. In such instances, affected persons may not seek medical attention for the malformations them- selves, simply considering them to be the normal hands or feet for the family.
Small and Large Intestines
Authors: Passarge Eberhard , Stevenson Roger E
Published: November 2023

The enteric system takes form between post fertilization weeks 4 and 16. In the embryonic disc stage, the future enteric system is represented by the portion of the yolk sac that lies parallel and in contact with the ectodermal plate (Fig. 25-1). The tubular nature of the enteric system becomes apparent during the 4th week of embryogenesis (stages 10–13) as a portion of the yolk sac becomes folded inside the embryonic mass.
Urogenital Tract
Authors: Evans Jane A
Published: November 2023

The urinary system consists of kidneys, which excrete urine, and the ureters, urinary bladder, and urethra, which collect it. Development of the urinary tract is closely related to that of the reproductive system. Both derive from intermediate mesoderm that extends along the entire length of the dorsal body wall of the embryo. During folding of the embryo in the horizontal plane, the intermediate mesoderm is carried ventrally away from the somites to form a longitudinal ridge on either side of the primitive paired aorta. This urogenital ridge has both a urinary component, the nephrogenic cord, and a genital component, the gonadal ridge. There are three successive sets of kidneys formed during human development.
Japanese Men’s Linguistic Stereotypes and Realities: Conversations from the Kansai and Kanto Regions
Authors: Sreetharan Cindi Sturtz
Published: November 2023

There is very little empirical research into how men of any society use language at the everyday, local level (but see Coates 2003; Johnson & Meinhof 1997). This is certainly true in the Japanese case. The lack of investigation into Japanese men in general and their language use in particular may give the impression that any Japanese man on the street can stand as representative of the generic Japanese male and that the language style he uses is both known and normatively spoken by all Japanese men.
Saramaccan and Haitian as Young Grammars The Pitfalls of Syntactocentrism in Creole Genesis Research
Authors: Mcwhorter John h.
Published: November 2023

In the previous three chapters I have argued that creoles are a synchronically identifiable class of grammar (chapter 1), are delineable as less complex than older languages because of their youth (chapter 2), and tend very strongly to reproduce their source languages’ structures in Jess complex renditions (chapter 3). Predictably, this framework has elicited rebuttals. Lefebvre (2001) considers her Relexificationist model to account for the contrast between creoles and their lexifiers better than my hypothesis does. DeGraff (1999b, 2001) argues that creoles differ from their lexifiers mostly in predictable structural concomitants of loss of inflection and that to propose any contrast in complexity between older languages and creoles is epistemologically flawed and even sociologically suspect. Arends (2001) supposes that creoles only appear “simpler” than older languages because of a lack of detailed grammatical work on them to date.