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Books on the topic 'Phenotypic Spectrum'

Author: Grafiati
Published: 4 June 2025
Last updated: 23 June 2025

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1

Chiang, Andrew Hann. Mechanisms Underlying Phenotypic Heterogeneity in Simplex Autism Spectrum Disorders. [publisher not identified], 2021.

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2

Mazzone, Luigi, Martina Siracusano, and Kevin A. Pelphrey, eds. Autism Spectrum Disorder: Understanding the Female Phenotype. Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-62072-0.

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3

Handbook Of Schizophrenia Spectrum Disorders Phenotypic And Endophenotypic. Springer, 2011.

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4

Ritsner, Michael S. Handbook of Schizophrenia Spectrum Disorders, Volume II: Phenotypic and Endophenotypic Presentations. Springer London, Limited, 2011.

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5

Ritsner, Michael S. Handbook of Schizophrenia Spectrum Disorders, Volume II: Phenotypic and Endophenotypic Presentations. Springer, 2014.

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6

South, Mikle, John D. Herrington, and Sarah J. Paterson. Neuroimaging in Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0003.

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This chapter reviews several major themes in the neuroimaging of ASDs to date (see summary of representative themes in Table 3.1), including substantial and essential contributions from the modular framework. The chapter begins, however, with a discussion of several challenges related to the diversity of ASDs in terms of factors such as age, level of functioning, and symptom presentation. Progress in the ability to identify more homogenous subgroups, based on targeted phenotypic measures, opens the door to link neuroimaging with genetics findings and also with treatment outcome data. This should lead to better understanding of both the causes of ASDs and the best approaches to intervention. The chapter is divided according to two broad, related themes related to social information processing and cognitive factors in ASDs. Within these themes, the chapter considers evidence from both structural and functional imaging studies as well as relatively newer approaches to connectivity, including diffusion tensor imaging. The primary focus of this chapter is on research utilizing functional magnetic resonance imaging (fMRI) and electroencephalography (EEG). Although several early neuroimaging studies utilized positron emission tomography scanning, these studies are rare now and are not addressed in depth. New techniques such as near-infrared spectroscopy suggest tremendous promise for noninvasive imaging of expanded age groups and severity levels of ASDs; however, these studies are also few in number and are touched on only briefly.
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7

Franco, Brunella. Oral-facial-digital type 1 syndrome. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0319_update_001.

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This chapter discusses oral-facial-digital type 1 syndrome (OFD1), which represents a rare syndromic form of inherited renal cystic disease associated with dysfunction of primary cilia. The disease is transmitted as an X-linked dominant male lethal trait. Embryonic lethality in affected hemizygous males is usually reported in the first and second trimesters of pregnancy. The clinical spectrum for this disease includes malformation of the face, oral cavity, and digits with a high degree of phenotypic variability, even within the same family, possibly due to X-inactivation. Renal cystic disease is present in over 65% of adult cases and is usually observed in the second and third decades of life.
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8

Vester, Udo, and Stefanie Weber. Renal coloboma syndrome. Edited by Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0360.

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Renal coloboma syndrome is characterized by hypodysplasia of the kidneys and optic never anomalies. Dominant mutations in the paired box PAX2 gene have been defined as the underlying cause. Paired box proteins are important proteins involved in early organogenesis and PAX2 is highly expressed in the kidney, eye, and ear. This pattern of expression explains the spectrum of anomalies observed in RCS patients. The phenotypic variability of mutation carriers is high but ocular anomalies are detectable in almost all affected individuals. In some patients hearing impairment is observed. End-stage renal disease develops in the large majority of patients with PAX2 mutations and associated hypodysplasia of the kidneys.
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9

Eapen, Valsamma, Andrew J. Whitehouse, Charles Claudianos, and Rudi Crncec, eds. Autism Spectrum Disorders: From Genotypes to Phenotypes. Frontiers Media SA, 2015. http://dx.doi.org/10.3389/978-2-88919-680-7.

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10

Autism spectrum disorders: Phenotypes, mechanisms, and treatments. Karger, 2015.

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11

Siracusano, Martina. Autism Spectrum Disorder: Understanding the Female Phenotype. Springer International Publishing AG, 2024.

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12

Doherty, Michael, Johannes Bijlsma, Nigel Arden, David J. Hunter, and Nicola Dalbeth. Introduction: what is osteoarthritis? Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0001.

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This brief introductory chapter summarizes some of the key clinical and structural features of osteoarthritis (OA) and highlights some general observations and concepts concerning the nature of OA. General observations include the preservation of OA throughout human evolution; the occurrence of OA in many other animals; the dynamic, metabolically active nature of OA pathophysiology; the fact that most OA never associates with symptoms or functional impairment; and the good outcome in many cases of symptomatic OA. Such observations support the concept of OA as the inherent repair process of synovial joints, which can be triggered by a range of diverse insults and in which all the joint tissues are involved. Aetiologically, OA is a common complex disorder with recognized genetic, constitutional, and environmental risk factors, and these may combine in multiple ways to cause marked variation in phenotypic presentation and in some instances ‘joint failure’ with associated symptoms and disability. Within the spectrum of OA are some discrete subsets, the best defined being nodal generalized OA. However, in many people OA does not fit neatly into one type and its phenotypic characteristics may change as it evolves. Two striking associations of OA are with ageing and with crystal deposition, especially calcium crystals but also urate crystals, and there are a number of possible mechanisms to explain these.
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13

Bergmann, Carsten, Nadina Ortiz-Brüchle, Valeska Frank, and Klaus Zerres. The child with renal cysts. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0305.

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Renal cysts of different aetiology are a common diagnosis in paediatric nephrology. The classification is usually based on the clinical picture, morphology, and family history. In syndromic forms, additional features have to be evaluated. Most common are cystic dysplastic kidneys with a broad phenotypic spectrum ranging from asymptomatic clinical courses in unilateral cases to severe, lethal manifestations in patients with considerable bilateral involvement. Simple cysts are rare. Polycystic kidneys are usually subdivided according to the mode of inheritance into autosomal recessive and autosomal dominant polycystic kidney disease. The most useful investigation in order to distinguish between these two types is the family history with parental ultrasound and demonstration of polycystic kidneys in one parent in the majority of cases with dominant polycystic kidney disease. Finally, cystic kidneys are associated with a variety of hereditary, usually recessive syndromes affecting cilia.
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14

Bölte, Sven, Luise Poustka, and Hilde M. Geurts. Autism spectrum disorder. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0024.

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Autism spectrum disorder (ASD) is an early onset and persistent condition defined by alterations in social communication and social interation alongside repetitive, restricted stereotypic behaviours and interests causing disabilities. Until recently, research on the co-occurrence of ADHD with ASD has been limited by DSM-IV criteria, allowing no dual diagnosis of these two neurodevelopmental disorders. Since the DSM-5 permits a double diagnosis of ADHD plus ASD, research on their comorbidity has substantially increased. In addition to shared and distinct aetiological factors, studies have revealed a high clinical impact of the combined symptomatology on individual outcomes. This chapter provides a selective overview of behavioural, cognitive, and biological findings as well as intervention strategies in combined ADHD/ASD phenotypes.
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15

Spectrum of Sex: The Molecular Bases That Induce Various Sexual Phenotypes. Springer, 2023.

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16

Tanaka, Minoru, and Makoto Tachibana. Spectrum of Sex: The Molecular Bases That Induce Various Sexual Phenotypes. Springer, 2022.

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17

Wu, David J., and Carolyn Schanen. Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0017.

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Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders. Interpretation of potential genotype–phenotype relationships for the unique and overlapping deletions and duplications that have been identified must consider key structural and functional elements that impact the complement of genes that are ultimately misexpressed.
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18

Joseph, Lisa, Sarah Spence, and Audrey Thurm. Autism and Autism Spectrum Disorders: Clinical Overview. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0002.

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Autism spectrum disorders (otherwise known as pervasive developmental disorders) are neurodevelopmental conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors. In order to provide a framework for appreciating the advances that basic science and model systems have made to the field, this chapter will outline the behaviorally defining features of the disorder and describe the phenotype of autism. We will present the current diagnostic conceptualization and criteria for autism spectrum disorders, discuss the diagnostic assessment process, explore frequently co-occurring problems in individuals with autism, and introduce various types of treatments that are frequently employed in this population.
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19

McDermid, Robert C., and Sean M. Bagshaw. Physiological Reserve and Frailty in Critical Illness. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199653461.003.0028.

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Physicians have long sought to define a ‘physiologic age’ distinct from chronologic age which might account for some of the variance in response to critical illness and injury. This has led to the concept of ‘physiologic reserve’ which might represent a major driver of outcome in patients requiring intensive care. The human body is a complex system that adapts to a multitude of external stressors; however, senescence or illness can reduce inherent adaptive mechanisms, reducing complexity and reducing the threshold for decompensation (i.e. acute illness or injury). This theoretical critical threshold can be considered ‘physiologic reserve’. The phenotypic expression of this process is frailty. Frailty is a condition in which small deficits accumulate which individually may be insignificant but collectively produce an overwhelming burden of disease and heightened vulnerability to adverse events. Frail patients expend a greater proportion of their reserve simply to maintain homeostasis, and seemingly trivial insults can contribute to catastrophic decompensation. While frailty has generally been described among older populations, the concept of frailty as a surrogate of physiologic reserve may have relevance to critically ill patients across a wide spectrum of age. Research is needed to characterize the biological underpinnings of frailty, optimal ways to measure it, and its importance in determining survival and functional outcomes after critical illness. The utilization of ICU resources by older patients is rising, and the prevalence of frailty in those admitted to the ICU is likely to increase.
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20

Samuels, Jack, Marco A. Grados, Elizabeth Planalp, and O. Joseph Bienvenu. Genetic Understanding of OCD and Spectrum Disorders. Edited by Gail Steketee. Oxford University Press, 2012. http://dx.doi.org/10.1093/oxfordhb/9780195376210.013.0025.

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This chapter reviews the evidence for the genetic etiology of OCD and spectrum conditions. A genetic basis is supported by the familial aggregation of OCD; evidence for involvement of genes of major effect in segregation analyses; and higher concordance for OCD in identical than non-identical twins. Recent studies also support linkage of OCD to specific chromosomal regions and association of OCD with specific genetic polymorphisms. However, specific genes causing OCD have not yet been firmly established. The search for genes is complicated by the clinical and etiologic heterogeneity of OCD, as well as the possibility of gene–gene and gene–environmental interactions. Despite this complexity, developments in molecular and statistical genetics, and further refinement of the phenotype hold promise for further deepening our genetic understanding of OCD and spectrum disorders in the coming decade.
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21

Conti, Eugenia, Mirko Uljarevic, Marco Turi, and Francesco Craig, eds. Autism Spectrum Disorder within Neurodevelopmental Disorders: Catching Heterogeneity, Specificity and Comorbidity in Clinical Phenotypes and Neurobiological Bases. Frontiers Media SA, 2022. http://dx.doi.org/10.3389/978-2-88976-952-0.

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22

Doherty, Michael. Osteoarthritis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0266.

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Osteoarthritis (OA) is a disorder of synovial joints and is characterized by the combination of focal hyaline cartilage loss and accompanying subchondral bone remodelling and marginal new bone formation (osteophyte). It has genetic, constitutional, and environmental risk factors and presents a spectrum of clinical phenotypes and outcomes. OA commonly affects just one region (e.g. knee OA, hip OA). However, multiple hand interphalangeal joint OA, usually accompanied by posterolateral firm swellings (nodes), is a marker for a tendency towards polyarticular ‘generalized nodal OA’.
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23

Lee, Ryan W. Smith-Lemli-Opitz Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0078.

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Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.
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24

Davidson, Amy I., John A. Goodfellow, and Hugh J. Willison. Immune-Mediated Neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0124.

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Immune-mediated neuropathies are a spectrum of diverse conditions with a commonality springing from dysregulation of the immune system. Clinical phenotypes can vary, along with onset and evolution of the condition, though paresis, paraesthesia, and pain are all common hallmarks. These conditions, although relatively rare, can be potentially life threatening, and functionally debilitating. The mainstay of treatment is immunomodulation, which continues to be an area of research interest, and with our improving understanding of the neurobiology of these conditions, novel targets are arising. This chapter looks to define these clinical syndromes, shedding light on their underpinning mechanisms and how to manage them.
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25

Renton, Alan E., and Alison M. Goate. Genetics of Dementia. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0051.

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The genetic architecture of dementia is polygenic and complex, with risk alleles spanning frequency–effect size space. Despite significant progress, most genes influencing these disorders await discovery. Known risk loci implicate perturbed pathways that coalesce around recurring mechanistic themes, notably the autophagosome-lysosome system, the cytoskeleton, endocytosis, innate immunity, lipid metabolism, mitochondria, and the ubiquitin-proteasome system. Phenotypic and pathophysiological pleiotropy suggests some conditions form continuous clinicopathogenetic disease spectra blurring classical diagnoses. Future large-scale genome sequencing of global populations will significantly elucidate etiopathogenesis and is likely to reframe nosology. Furthermore integrative prospective cohort studies have the potential to revolutionize our understanding of dementia.
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26

Smith-Hicks, C. L., and S. Naidu. Rett Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0054.

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Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with classic RTT have mutations in the MeCP2 gene.
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27

Srivastava, Siddharth, and Jeffrey Chinsky. Methylmalonic Acidemia. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0062.

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Isolated methylmalonic acidemia (MMA) refers to a group of inborn errors of organic acid metabolism caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA. Individuals with MMA experience both acute and chronic neurological complications. The pathophysiology likely reflects impaired energy metabolism in the mitochondria leading to neuronal toxicity in MMA. MMA presents with a spectrum of clinical phenotypes with onset of symptoms anytime from the neonatal period to adulthood. Once there is clinical suspicion for MMA, definitive diagnosis requires biochemical testing. The treatment of MMA centers on acute interventions when affected individuals are ill, as well as preventative measures when they are doing relatively well. Neuroimaging in MMA demonstrates a variety of findings.
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28

Martino, Davide, and Gavin Giovannoni. Poststreptococcal Movement Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0095.

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The spectrum of “poststreptococcal” movement disorders and other behavioral abnormalities has expaanded and the array of neuropsychiatric features associated with rheumatic fever (RF) has been broadened. However, it is difficult to establish a causal link between Group A Streptococcus (GAS) and neuropsychiatric symptoms beyond RF, which has fuelled a long-lasting, and still unsolved, debate as to whether putative “poststreptococcal” disorders such as the PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection) phenotype are distinct entities or not. This chapter provides an up-to-date overview of the conditions that are well established (Sydenham’s chorea) or proposed (poststreptococcal tic and obsessive-compulsive disorders) as secondary to an immune response toward GAS.
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29

Tully, Erin C., and William Iacono. An Integrative Common Liabilities Model for the Comorbidity of Substance Use Disorders with Externalizing and Internalizing Disorders. Edited by Kenneth J. Sher. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199381708.013.20.

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This chapter presents an integrative research-derived model to explain comorbidity among substance use disorders (SUDs), externalizing disorders, and internalizing disorders. This hierarchical model is based on phenotypic covariance among the disorders and latent common genetic liability. At the highest level of the hierarchy, general genetically influenced biological dispositions to negative emotionality and behavioral disinhibition each give rise to spectra of related personality traits, cognitive processes, behavioral tendencies, and psychopathology that account for the pattern of co-occurrence among mental disorders. At the lowest level of the hierarchy, disorder-specific genetic and environmental effects explain the presence of some and not other disorders associated with a given general liability. Interplay between the general liabilities and both other genes and environmental factors throughout development affect the likelihood of developing specific mental disorders.
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30

Turner, Neil, and Bertrand Knebelmann. MYH9 and renal disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0342_update_001.

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MYH9 encodes one of three heavy chain isoforms for the non-muscle myosin II (NM II) molecule. NM II is involved in cell structure and shape and motility. Myosin II is very widely expressed but MYH9 is highly expressed in podocytes. MYH9 diseases are characterized by various combinations of autosomal dominant progressive, proteinuric renal disease, giant platelets with low platelet counts, progressive sensorineural hearing impairment, granulocyte inclusions, and in some patients also cataracts. Although the eponyms Epstein and Fechtner have been given to MYH9 renal syndromes, there is a spectrum of manifestations of MYH9 diseases that do not correlate perfectly with genotype. They are best described as MYH9-associated renal disease. The occurrence of progressive deafness and renal failure led to this condition being considered an Alport syndrome variant in the past, but phenotype as well as molecular genetics clearly separate the disorders.
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31

Safar, Jiri G. Prion Paradigm of Human Neurodegenerative Diseases Caused by Protein Misfolding. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190233563.003.0005.

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Data accumulated from different laboratories argue that a growing number of proteins causing neurodegeneration share certain characteristics with prions. Prion-like particles were produced from synthetic amyloid beta (Aβ‎) peptides of Alzheimer’s disease (AD), from recombinant α‎-synuclein linked to Parkinson’s disease (PD), and from recombinant tau associated with frontotemporal dementias (FTD). Evidence from human prions reveals that variable disease phenotypes, rates of propagation, and targeting of different brain structures are determined by distinct conformers (strains) of pathogenic prion protein. Recent progress in the development of advanced biophysical tools identified the structural characteristics of Aβ‎ in the brain cortex of phenotypically diverse AD patients and thus allowed an investigation of the prion paradigm of AD. The findings of distinctly structured strains of human brain Aβ‎, forming a unique spectrum of oligomeric particles in the cortex of rapidly progressive cases, implicates these structures in variable rates of propagation in the brain.
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32

Roberts, Timothy P. L., and Luke Bloy. Neuroimaging in Pediatric Psychiatric Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0060.

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Noninvasive imaging and electrophysiological techniques have been developed to probe specific aspects of brain function and dysfunction, providing exquisite spatial maps of functional centers and temporal characteristics. The evolution of these techniques has advanced from single-modality methods identifying functional localization, specialization and segregation, through real-time measures of neuronal activity, toward multimodality integration of structural, functional, and spectro-temporal approaches. While these have an immediate impact in conditions where physical brain lesions are evident (e.g., brain tumor and stroke), making a commensurate contribution within neuropsychiatry is more complex. Nonetheless, by combining concepts of morphology, neurochemistry, neural signal propagation, and regional connectivity, there appears to be ample opportunity to contribute not only to the diagnosis of patients with mental illness but to the stratification and subtyping across behavioral phenotypes and, ultimately, to patient management. Here we present an overview of the most common noninvasive neuroimaging methodologies and their applications to pediatric neurodevelopmental disorders.
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33

Scarpa, Raffaele, Francesco Caso, Luisa Costa, Rosario Peluso, Nicola Matteo Dario Di Minno, and Antonio Del Puente. Peripheral arthritis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198737582.003.0010.

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Clinical presentation of peripheral arthritis in patients with psoriatic arthritis (PsA), has been described by Moll and Wright who classified it into four subsets: symmetrical polyarthritis, asymmetrical oligoarthritis, distal interphalangeal (DIP) arthritis and arthritis mutilans. In the symmetrical polyarthritis subset, the distribution of articular involvement is similar to rheumatoid arthritis and this has for many years justified the inappropriate use of the terminology ‘rheumatoid-like form’, at present completely abandoned. Oligoarthritis is characterized by asymmetrical involvement of few joints (less than four), which include scattered DIP or proximal interphalangeal (PIP) joints and/or metatarsophalangeal joints. DIP arthritis may occur with symmetrical or asymmetrical features, and it is often in strict association with onycopathy. The arthritis mutilans pattern is characterized by osteolysis of phalanx and metacarpals and it is very rare, occurring in less than 1% of patients with established form of arthritis. In 15-20% of the cases the arthritis may precede the onset of the psoriatic skin rash. Consequently, psoriatic arthritis ‘sine psoriasis’ should not be considered a rare clinical finding. In this subset articular involvement is clinically expressed, while cutaneous is apparently absent. Laboratory tests and imaging are relevant for differential diagnosis which in some presentations may represent a diagnostic challenge. The outcome of peripheral patterns of PsA patients is related not only to the spectrum of peripheral phenotypes, but also to early diagnosis, and metabolic aspects, which may affect excess in morbidity and mortality.
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34

Zakrzewska, Joanna M., and Turo Nurmikko, eds. Trigeminal Neuralgia and Other Cranial Neuralgias. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198871606.001.0001.

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Trigeminal neuralgia and other cranial neuralgias comprise a group of facial pain conditions, characterized by disabling pain attacks that selectively respond to specific treatments. Although not as common as migraine they affect over 1% of the population. The spectrum of cranial neuralgias is wide and as a consequence, the conditions are managed by a range of different specialists. Studies show that delayed diagnoses and mismanagement are common and can lead to depression and suicide. This book aims to change that. It brings together the expertise of over 30 internationally recognized authors to guide the reader through the maze of pathophysiology, clinical features, diagnosis-making, and condition-specific treatments. The approach is practical and evidence based and ready for real-world applications. The value of phenotyping, targeted investigations, and treatment algorithms is emphasized. There needs to be a holistic approach with multidisciplinary teams working together and with patients being at the centre of this process and sharing the decision-making process. There remain considerable challenges but the field is rapidly evolving and there are increasing numbers of opportunities opening up to improve our understanding of these conditions and hence their management. The reader is introduced to patient scenarios, algorithms, self-administered tools for training in diagnosis and management, clinical tips, and carefully chosen references. Each chapter includes key points and a lay summary and each can be read as a stand-alone unit. The intended audience includes medical and dental postgraduates, a wide range of specialities, including primary care teams, allied healthcare professionals and expert patients.
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35

Budimirovic, Dejan B., and Megha Subramanian. Neurobiology of Autism and Intellectual Disability. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0052.

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Fragile X syndrome (FXS) is a neurodevelopmental disorder that manifests with a range of cognitive, behavioral, and social impairments. It is a monogenetic disease caused by silencing of the FMR1 gene, in contrast to autism spectrum disorder (ASD) that is a behaviorally-defined set of complex disorders. Because ASD is a major and growing public health concern, current research is focused on identifying common therapeutic targets among patients with different molecular etiologies. Due to the prevalence of ASD in FXS and its shared neurophysiology with ASD, FXS has been extensively studied as a model for ASD. Studies in the animal models have provided breakthrough insights into the pathophysiology of FXS that have led to novel therapeutic targets for its core deficits (e.g., mGluR theory of fragile X). Yet recent clinical trials of both GABA-B agonist and mGluR5 antagonist revealed a lack of specific and sensitive outcome measures capturing the full range of improvements of patients with FXS. Recent research shows promise for the mapping of the multitude of genetic variants in ASD onto shared pathways with FXS. Nonetheless, in light of the huge level of locus heterogeneity in ASD, further effort in finding convergence in specific molecular pathways and reliable biomarkers is required in order to perform targeted treatment trials with sufficient sample size. This chapter focuses on the neurobehavioral phenotype caused by a full-mutation of the FMR1 gene, namely FXS, and the neurobiology of this disorder of relevance to the targeted molecular treatments of its core symptoms.
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