bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mental Retardation Associated with Dysmorphology, Growth Retardation, or Overgrowth
Authors: Smith Moyra 
Published: November 2023

Abstract
Mental retardation associated with facial dysmorphology, congenital malformation, and growth retardation or overgrowth may be due to gene dosage imbalance. Extra copies of genes may result from the presence of an extra chromosome, e.g., trisomy 21. Dosage changes may also result from the presence of an extra chromosomal segment or from loss of a chromosomal segment. Contiguous gene syndromes are disorders where dosage changes in a number of genes that map within a chromosomal segment are thought to play a role in producing the characteristic clinical features of the syndrome. Syndromes characterized by mental retardation, growth retardation, and dysmorphology may also result from defects in specific single genes.
Nonsyndromic Mental Retardation, Autism, and Language Deficits
Authors: Smith Moyra 
Published: November 2023

Abstract
Mental retardation is categorized as syndromic ifit is associated with clinically recognizable physical, neurological, or biochemical features. In non-syndromic or nonspecific mental retardation, significant developmental delay and mental retardation represent key features and distinct dysmorphic features as well as neurological and metabolic abnormalities are absent. The distinction between syndromic mental retardation and non-syndromic mental retardation is, however, not as clear-cut as it may seem. Following identification of genes for non-syndromic forms of X-linked mental retardation, investigators who undertook detailed phenotypic analysis in patients with defects in a specific gene often found subtle but distinct clinical abnormalities. In some instances, patients with a specific gene defect had associated biochemical abnormalities or specific MRI findings. Furthermore, it has become clear that different mutations in a particular gene may have different consequences. Some may lead to syndromic mental retardation, while others lead to nonsyndromic mental retardation (Prints et al. 2002).
Establishing a Diagnosis and Determining Etiology in Developmental Delay and Mental Retardation
Authors: Smith Moyra 
Published: November 2023

Abstract
Developmental disabilities occur in 5%-10% of the pediatric population (Shevell et al. 2000). Deficits may exist in a single domain or across several domains. Included within the spectrum of developmental disabilities are global developmental delay, isolated speech and language delay, motor delay, cerebral palsy, pervasive developmental disabilities, and profound primary and sensory impairments such as deafness and blindness. Determining specific etiology in childhood developmental delay has implications for management. These include medical follow-up, prognosis prediction, and recurrence risk estimation. An important goal of the diagnostic evaluation is to ensure that appropriate rehabilitative services are arranged.
Genetic Epidemiology of Infectious Disease
Authors: Duggal Priya , Beaty Terri H 
Published: November 2023

Abstract
Genetic epidemiology is a hybrid science that combines the tools of genetics and epidemiology to identify the role genes play in controlling susceptibility to complex diseases—diseases that have both genetic and environmental causes. Traditional medical genetics has focused primarily on single-gene traits and has successfully identified causal mutations controlling many phenotypes that follow the transmission patterns first outlined by Gregor Mendel. Mendelian diseases can be autosomal dominant, autosomal recessive, Xlinked dominant, or X-linked recessive (with varying levels of incomplete penetrance possible) but are typically rare in the population (see glossary). Epidemiology, the methodologic science of public health, has conventionally focused on the study of more common diseases in an effort to identify factors that control the distribution of disease at the population level. The science of epidemiology evolved through the study of infectious diseases, and traditionally there has been little consideration of host genetic factors controlling susceptibility. During the last quarter of the twentieth century, however, genetic epidemiology emerged as a field that applies the principles of genetics to complex diseases, which generally cluster in families suggesting some genetic component but do not behave in a purely Mendelian fashion. Unlike the traditional single gene diseases, a complex disease is most likely to reflect effects of one or more genes (that may interact with each other) and the environment, and there is typically some degree of etiologic heterogeneity.
Laboratory Analysis of Genetic Variation
Authors: Yeager Meredith , Welch Robert A , Chanock Stephen J 
Published: November 2023

Abstract
Recent technical and computational advances have dramatically accelerated the pace of laboratory analysis in the field of genetics. Historically, genotyping projects were small in scope and typically included analysis of a handful of single nucleotide polymorphisms (SNPs) in a candidate gene. The SNPs were often chosen because of known or putative function (e.g., in an amino acid–altering or promoter region) or on the basis of suggestive or corroborating laboratory data. However, in a matter of a few years, the horizon has changed dramatically; thousands of SNP markers can now be tested efficiently in large population-based studies.
MHC Class I and Related Genes
Authors: Stephens Henry A F 
Published: November 2023

Abstract
Class I human leukocyte antigens (HLA) are highly polymorphic (see EBI=EMBL, 2007). A central issue in modern immunology is what forces have driven this variability. In the early 1990s, evidence emerged that one of the most common HLA class I molecules in African populations (HLA-B53) appeared to provide some degree of protection against severe life-threatening complications of malaria (Hill et al., 1991; see also chapter 24 in this volume). One implication of this work was that considerable microbial selective pressure has influenced HLA class I variability in different populations. However, much of the subsequent evidence for HLA class I associations with infectious diseases has come from the field of viral immunology. Here, the urgent need to develop vaccines against newly emerging infections such as HIV-1 (see chapter 19) has focused attention on how immune response genes determine initial infection and the subsequent course of disease after exposure to pathogens.
MHC Class II and Related Genes
Authors: McNicholl Janet M , Jensen Peter E , Boss Jeremy M 
Published: November 2023

Abstract
The MHC class II antigen-processing pathway plays a central role in the adaptive immune response to microbial pathogens as the mechanism through which ligands are generated for recognition by CD4+ helper T cells. CD4+ helper T cells are activated by recognition of short peptide antigens stably bound to MHC class II molecules expressed on the surface of specialized antigen-presenting cells (APC), such as dendritic cells. Activated CD4+ T cells are required to generate high-affinity antibody responses through their capacity to interact with antigen-specific B cells to promote isotype switching, somatic mutation of immunoglobulin genes, and the generation of memory B cells. Through cytokine production and direct activation of dendritic cells, CD4+ T cells also promote the induction of CD8+ cytolytic T-cell responses. Moreover, helper T cells mediate delayed-type hypersensitivity effector mechanisms by recruiting and activating macrophages and other components of the innate immune system. By controlling antigen recognition by CD4+ T cells, MHC class II proteins (e.g., the HLA-DR, -DP, and -DQ molecules), together with co-factor and accessory MHC molecules (e.g., HLA-DM and -DO and the invariant chain) and transcription factors (RFX and CIITA), have a profound impact on all the major effector mechanisms employed in adaptive immune responses.
Immunoglobulin Fc and Related Receptor Genes
Authors: Croker Jennifer A , Kimberly Robert P 
Published: November 2023

Abstract
Immunoglobulin Fc receptors (FcRs), members of the immunoglobulin gene superfamily, are membranebound glycoproteins that function in the immune system by coupling antibodies to effector functions in a cell. The different FcRs, while each interacting with the constant (Fc) region of an antibody (Ab), may bind to ligand with different affinities. Each FcR utilizes partiallyoverlapping, aswellasdiscrete, signalingmechanisms to elicit cellular immune responses, including phagocytosis, degranulation, endocytosis, immunecomplex clearance, Ab-dependent cell cytotoxicity, and transcriptional regulation of cytokine and chemokine expression (Daeron, 1997). Clinically, genetic variants found in several of the FcRs have been implicated in several inflammatory, rheumatic, and autoimmune diseases, such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and vasculitis (Croker and Kimberly, 2005). Recent data also implicate FcR function in susceptibility to infection, particularly inpatients with inflammatory or autoimmune diseases (Kimberly et al., 1988, 1998; Hughes et al., 2004).
Tumor Necrosis Factor and Related Genes
Authors: Gallagher Grant , Moraes Milton O , Anaya Juan-Manuel 
Published: November 2023

Abstract
The tumor necrosis factor (TNF) region spans four loci: lymphotoxin a (LTA), lymphotoxin b (LTB), tumor necrosis factor (TNF), and leukocyte-specific transcript 1 (LST1). Much is known about the functions of the products of three of these genes—LTa, LTb, and TNF. The fourth gene has been relatively ignored since its discovery in the early 1990s. The most studied gene product is the cytokine is TNF (also known as TNF-a), which is produced largely by monocytes, macrophages, and T cells (Correa & Anaya, 2001). TNF is synthesized as a 26-kDa membrane protein, which is cleaved to produce its soluble 17-kDa form. TNF is a pleiotropic and proinflammatory cytokine that displays a wide range of biological activities regulating normal functions such as hematopoiesis, morphogenesis, lipid metabolism, and endothelial function and has several local effects, including protection against infections. However, TNF overproduction can lead to severe tissue damage, organ failure, and occasionally death.
Cytokine Genes I IL10, IL6, IL4, and the IL1 Family
Authors: Moraes Milton O , McNicholl Janet M , Huizinga Tom W J , Ottenhoff Tom H M 
Published: November 2023

Abstract
There is growing recognition that cytokine production is under tight genetic control and that variations in cytokine genes play a direct role in regulating cytokine production, disease pathogenesis, and host resistance to infectious diseases, particularly those due to intracellular pathogens. This hypothesis has led to epidemiological and functional studies of variant alleles at different polymorphic sites in many human populations. Promoter polymorphism studies, especially of single nucleotide polymorphisms (SNPs), have been conducted in association studies (mostly case–control) in many diseases, including autoimmune=inflammatory diseases such as rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, and asthma, and infectious diseases such as malaria, hepatitis B (HBV), hepatitis C (HCV), HIV infection, tuberculosis (TB), leprosy, and sepsis=septic shock. Polymorphisms in TNF, IL12, and IFNG genes are reviewed in other chapters. Here we focus on IL10, IL6, IL4, and the IL1 gene cluster, including available evidence on the functional role of some promoter polymorphisms. Case–control studies have produced variable results, with little consensus on whether any polymorphisms are actually associated with disease, although results have been more consistent in the case of certain infectious diseases. Functional studies have also sometimes produced discrepant results. More recently, instead of focusing on single promoter polymorphisms in isolation, investigators have appropriately begun to examine extended haplotypes, which can better capture the true genetic functional variation. This has led to notable success in the identification of new functional loci and set a new standard, replacing smaller case–control studies using single markers with integrative large-scale studies focusing on haplotype analyses.
Cytokine Genes II IL12, IFNG, and Their Receptor Genes
Authors: Haverkamp Margje H , Holland Stephen M 
Published: November 2023

Abstract
The host immune response is divided into early innate (nonspecific) and adaptive (later) phases. The latter aims at sustained control of infection ( Janeway 1992). The interleukin-12=interferon-g (IL-12=IFN-g) signaling axis encourages T-helper-1 (Th1) and discourages T-helper-2 (Th2) development. Genetic deficiencies in IL-12, its receptor (IL-12R), the IFN-g receptor (IFN-gR), and in STAT-1 all cause susceptibility to weakly pathogenic mycobacteria, Mycobacterium tuberculosis and Salmonella (Ottenhoff et al. 2002). About 140 patients suffering from Mendelian defects in IL-12p40, IL-12Rb1, IFN-gR1, IFN-gR2, or STAT-1 have been reported (Mendelian susceptibility to mycobacterial disease; Casanova and Abel 2002, Dorman and Holland 2000, Ottenhoff et al. 2002).
Leishmaniasis
Authors: Dessein Alain 
Published: November 2023

Abstract
The different forms of leishmaniasis are caused by the protozoan Leishmania, belonging to the order Kinetoplastida, family Trypanosomatidae (Lainson 1987). Leishmania is injected in vertebrate epidermis and dermis by female sand flies (phlebotomes) when they take their blood meal. These organisms can parasitize a wide range of vertebrate hosts, from lizards to humans. Leishmania is an obligate intracellular parasite that develops inside macrophage phagolysosomes. These parasites have evolved sophisticated strategies to evade destruction by a phagocytic cell that is well suited for killing microorganisms (reviewed in Olivier et al. 2005).
Schistosomiasis
Authors: Dessein Alain , Chevillard Christophe , Elwali Nasr Eldin 
Published: November 2023

Abstract
Schistosomiasis is a disease caused by several species of 1to 2-cm-long helminths—trematodes or flat worms—called schistosomes. Some 250 million people are believed to be infected, mainly in developing countries, and schistosomiasis causes 100,000–250,000 deaths annually. Schistosomes are disseminated by freshwater snails that release infective swimming larvae, the cercariae, in ponds, small rivers, and irrigation canals. Humans and animals are infected following exposure to the waters during agricultural activities such as irrigation and from bathing, washing, or drinking (animals). In the snails, the parasite undergoes asexual multiplication that increases the parasite population size by a thousand times. In its vertebrate hosts, schistosomes undergo sexual reproduction, with female worms laying a few hundred eggs per day in the vessels of the host intestine and bladder. These eggs perforate the mucosa to enter the fecal or urinary stream, whereupon they shed into a river or pond and hatch and release a larva (miracidium) that infects the snails.
Pain Assessment
Authors: Fink Regina , Gates Rose 
Published: November 2023

Abstract
Key Points Pain is multifactorial and affects the whole person. Pain prevalence at the end oflife is high and can be acute,chronic,or both. Patients or residents should be asked whether they have pain(screened for pain) on admission to a hospital,clinic,nursing home,hospice,or home care agency. Ifpain or discomfort is reported,a comprehensive pain assessmentshould be performed at regular intervals,whenever there is achange in the pain,after analgesic administration,and after anymodifications in the pain management plan. The patient’s self-report ofpain is the gold standard,even for thosepatients who are nonverbal or cognitively impaired. Standard pain scales should be used in combination with clinicalobservation and information from health care professionals andfamily caregivers. Multiple barriers to pain assessment exist.
Dyspnea, Death Rattle, and Cough
Authors: Dudgeon Deborah 
Published: November 2023

Abstract
Dyspnea is a very common symptom in people with advanced disease and can severely impair their quality of life. The presence of dyspnea correlates with the probability of dying in hospital.1 In one international study, dyspnea prompted the use of terminal sedation in 25% to 53% of patients.2 Management of breathlessness requires understanding and assessment of the multidimensional components of the symptom, knowledge of the pathophysiological mechanisms and clinical syndromes that are common in people with advanced disease, and knowledge of the indications and limitations of the available therapeutic approaches.
Lymphedema Management
Authors: Smith Jean K 
Published: November 2023

Abstract
Lymphedema and edema are seen regularly in palliative and acute care settings. Both are often neglected despite their capacity to cause pain, immobility, infection, skin problems, and significant patient distress. Long-term, neglected edemas, such as lower extremity venous insufficiency, can develop into chronic lymphedema. Discerning the difference between edema and lymphedema allows appropriate treatment. Because nurses have access to large, diverse patient populations, they constitute an ideal resource for improving patient care. This text prepares nurses to understand, assess, and manage both edema and lymphedema. Information is applicable to various clinical settings, including acute, outpatient, and palliative care.
Skin Disorders: Pressure Ulcers— Assessment and Management
Authors: Bates-Jensen Barbara M 
Published: November 2023

Abstract
Palliative care for skin disorders is a broad area, encompassing prevention and care for pressure ulcers, management of malignant cutaneous wounds and fistulas, and management of stomas. The goals of treatment are often to reduce discomfort, manage odor and drainage, and provide for optimal functional capacity. In each area, involvement of the caregiver and family in the plan of care is important. Management of skin disorders involves significant physical care as well as attention to psychological and social care. To meet the needs of the patient and family, access to the multidisciplinary care team is crucial, and consultation by an Enterostomal Therapy nurse or a certified Wound, Ostomy, Continence nurse is highly desirable.
Delirium, Confusion, and Agitation
Authors: Kuebler Kim K , Heidrich Debra E , Vena, Catherine , English Nancy 
Published: November 2023

Abstract
The human “living” experience will eventually tread the path toward the inevitable physical decline that accompanies age, disease, and death. Yet each individual’s dying experience is as unique as the life that he or she has lived. Many of the common threads that often create fear in the dying process are similar and include the fear of pain, the fear of loss, and the fear of losing control over one’s physical, emotional, and mental capacities. As nurses caring for those that are facing the end of their lives and their families, it is important that we understand how to empower both patients and families and how to reassure them that they will receive the care and support necessary to control symptoms at life’s end.
Meaning in Illness
Authors: Borneman Tami , Brown-Saltzman Katherine 
Published: November 2023

Abstract
Is it possible to adequately articulate and give definition to meaning in illness? Or is meaning in illness better described and understood through using symbolism and metaphors such as the above poem? To try to define that which is enigmatic and bordering on the ineffable seems almost sacrilegious. The unique individual journey of finding meaning in illness experienced by each patient facing the end of life and their family caregiver would seem to be diminished by the very process that seeks to understand through the use of language. Is it that we seek to find meaning in illness or is it that we seek to find meaning in the life that is now left and in those relationships and things we value? Do we seek to find meaning in illness itself as an isolated event or that which is beyond the illness, such as how to live out this newly imposed way of life? Terminal illness forces us to look at and possibly to reappraise the meaning in and of our life.1 If we allow space in our lives for the process of meaning in illness to unfold, we then move from the superficial to the profound.
The Role of Nursing in Caring for Patients Undergoing Surgery for Advanced Disease
Authors: Ferrell Betty R , Juarez, Gloria , Borneman Tami 
Published: November 2023

Abstract
Rosa Hernandez is a 38-year-old Hispanic woman who resided in Southern California for the past 8 years, having previously lived her entire life in Mexico. She is married to Juan, and they have four children ranging in age from 6 to 17 years. Three months ago, she began to experience numerous gastrointestinal symptoms including bloating, mild nausea, abdominal pains, and severe indigestion. After trying numerous over-the-counter medications and herbal treatments, she sought medical evaluation and was diagnosed with cholangiocarcinoma. She and her family were drawn to the University Cancer Center, in part because a cousin who had been diagnosed with acute leukemia several years previously had been very successfully treated at this center and cured of his leukemia. They came to the Cancer Center with great confidence that Rosa would also be cured of her disease. The surgeon explained the seriousness of her cancer in the gallbladder and the widespread metastases to the liver. When offered treatment choices, Rosa and Juan as well as their large extended family aggressively voiced their desire for all treatments possible and repeatedly expressed their confidence in the surgical team and staff to save her life.
Symptom Management in Pediatric Palliative Care
Authors: Hellsten Melody Brown , Kane Javier 
Published: November 2023

Abstract
Complex chronic conditions of childhood (Table 49–1) are defined as “any medical condition that can be reasonably expected to last at least 12 months, involves either multiple organs or one organ system severely enough to require specialty pediatric care, and some probability of hospitalization at a tertiary care center.”1 Currently, there are limited estimates on the numbers of children living with these disabling and potentially life-limiting complex chronic conditions. Newacheck and Halfon2 estimated that approximately 4.4 million children in the United States currently live with some level of disabling chronic condition, and that roughly 450,000 of those children have conditions that prevent participation in age-appropriate activities, result in significant limitation in school, and account for increased numbers of hospitalizations and contacts with the health care system. Feudtner and colleagues3 reviewed death-certificate data from 1979 to 1997 and reported that 21% of the 1.7 million child deaths during that time were the result of a complex chronic condition.