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1
Brown, Phil. Toxic exposures: Contested illnesses and the environmental health movement. New York, NY: Columbia University Press, 2007.
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2
Irene, Diekmann, Schoeps Julius H. 1942- y Moses Mendelssohn-Zentrum für Europäisch-Jüdische Studien., eds. Das Wilkomirski-Syndrom: Eingebildete Erinnerungen, oder, Von der Sehnsucht, Opfer zu sein. Zürich: Pendo, 2002.
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3
Brandl, Katrin. Hans-guck-in-die-Luft und Zappelphilipp in Musikschule und allgemein bildender Schule: Medizinische Grundlagen, heilpädagogische und soziale Aspekte des Aufmerksamkeitsdefizit/Hyperaktivititäts-Syndroms und seine Beeinflussbarkeit durch Musikerziehung. Fernwald: Musikverlag Muth, 2004.
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4
Brown, Phil. Toxic Exposures. Columbia University Press, 2007.
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5
Dionisi-Vici, Carlo, Diego Martinelli, Enrico Bertini y Claude Bachmann. HHH Syndrome. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0020.
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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle characterized by impaired transport of ornithine across the inner mitochondrial membrane. As seen in other urea cycle defects, in the acute phase the disease is characterized by intermittent episodes of hyperammonemia accompanied by vomiting, lethargy, and coma, with or without signs of acute liver failure. The disease course is characterized by a pyramidal tract dysfunction associated with myoclonic seizures and cerebellar symptoms. Most patients reaching adulthood manifest variable degrees of cognitive impairment and abnormal behavior. Long-term treatment consists of a low-protein diet supplemented with citrulline, arginine, or ornithine. Protein restriction may be combined with sodium benzoate. If plasma creatine levels are low, creatine supplementation should be instituted. Acute treatment is similar to other urea cycle defects.
6
Heidet, Laurence, Bertrand Knebelmann y Marie Claire Gubler. Alport syndrome. Editado por Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0322_update_001.
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This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develops during teenage years or as a young adult, usually as proteinuria becomes prominent and renal function begins to be lost. Angiotensin-converting enzyme inhibitors may modify this classic description. Ocular abnormalities are less consistent and tend to occur later, often after end-stage renal failure. Retinal changes do not affect sight. Lenticonus can be treated by lens replacement. Other ocular abnormalities occur rarely. Aortic disease has been reported in occasional families.
7
Rajakrishna, Premil, Stewart Cameron y Neil Turner. Nephrotic syndrome. Editado por Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0052.
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Nephrotic syndrome is the constellation of manifestations seen in patients with such severe proteinuria that serum albumin falls below normal levels. Its severity and the risk of complications are graded by the severity of the protein loss. The risks of some complications begin to rise at levels of proteinuria below those conventionally associated with nephrotic syndrome. The main manifestation, oedema, is characterized by avid sodium retention and managed by sodium restriction and diuretics. A pronounced thrombotic tendency is particularly apparent within the first 6 months of diagnosis and in patients with the most severe proteinuria. Venous thromboembolism may be a presenting feature. Prophylactic full anticoagulation may be considered for those at highest risk. Hyperlipidaemia is severe and justifies lipid-lowering therapy in patients with sustained nephrotic syndrome. There is a marked increased risk of bacterial infection, particularly from Streptococcus pneumoniae. The causes of nephrotic syndrome are diseases affecting the podocyte, either directly or through an effect on glomerular matrix (e.g. through scarring). Identification of a cause is important for management and often requires a renal biopsy.
8
Pitt, Matthew. Nerve damage and entrapment syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0005.
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In this chapter, the pathological classification of nerve damage using the Sunderland classification is described. The neurophysiological findings that allow distinction between neurapraxia, axonotmesis, and neurotmesis are highlighted. Nerve entrapment syndromes involving the upper and lower limb are discussed according to the nerve involved, with particular emphasis on those commonly seen in children. In the upper limb, median, ulnar, and radial nerve entrapments are described with particular emphasis on the carpal tunnel syndrome in mucopolysaccharidosis. Also mentioned here are the thoracic outlet syndrome and neuralgic amyotrophy. In the leg, femoral nerve and sciatic nerve syndromes are discussed with particular emphasis on the differing aetiologies of sciatic nerve palsy in children.
9
Niaudet, Patrick y Alain Meyrier. Idiopathic nephrotic syndrome. Editado por Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0054_update_001.
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Idiopathic nephrotic syndrome is defined by the combination of massive proteinuria, hypoalbuminaemia, hyperlipidaemia, and oedema, and of non-specific histological abnormalities of the glomeruli. Light microscopy may disclose minimal change disease, diffuse mesangial proliferation, or focal segmental glomerular sclerosis (FSGS). The two main causes of idiopathic nephrotic syndrome are characterized histologically. On electron microscopy the glomerular capillaries show a fusion of visceral epithelial cell (podocyte) foot processes and with the exception of some variants no significant deposits of immunoglobulins or complement by immunofluorescence. In a majority of children only minimal changes are seen on light microscopy. These children are referred to as having ‘minimal change disease’. In adults with idiopathic nephrotic syndrome, lesions of FSGS are more frequent.
10
Yurdakul, Sebahattin, Emire Seyahi y Hasan Yazici. Behçet’s syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0135.
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Behçet's syndrome is a systemic inflammatory panvasculitis (affecting all sizes of vessels) of unknown aetiology. It is in vogue to include it among the systemic autoinflammatory conditions. Behçet's syndrome is more frequent along the ancient 'Silk Route' across Asia than it is in Western countries. The usual onset is the second or third decade, equally affecting either gender. However, young patients and male patients have more severe disease. Almost all patients have recurrent oral ulceration. Scar-forming genital ulcers, a variety of skin lesions including acneiform, erythema nodosum-like lesions, arthritis, potentially blinding panuveitis, thrombophlebitis, gastrointestinal disease, central nervous system (CNS) involvement, and life-threatening bleeding pulmonary artery aneurysms are seen. The pathergy phenomenon is a heightened tissue inflammatory response. The strongest genetic association is with HLA B51. There are immunological aberrations but not prominent enough to call it an autoimmune disease. Similarly, Behçet's syndrome does not fit easily into the broad concept of autoinflammatory diseases. The histopathology is also non-specific and the diagnosis is mainly clinical. Differentiation from Crohn's disease is very difficult. In more than one-half of the patients the disease burns out in time, thus only symptomatic therapy is indicated in some patients. However, eye involvement, pulmonary vascular disease, thrombophilic complications, CNS involvement, and gastrointestinal disease need prompt recognition and treatment. Brief courses of glucocorticosteroids along with immunosuppressives including the newer biologicals, interferon, and colchicine are commonly used. However, controlled clinical trials are not available for some of these medications especially when thrombophilia, CNS, and gastrointestinal disease are present.
11
Kau, Sebastian. Lesch-Nyhan-Syndrom und Seine Heilpädagogische Relevanz. GRIN Verlag GmbH, 2013.
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12
Trott, Götz-Erik. Das hyperkinetische Syndrom und seine medikamentöse Behandlung. Hogrefe-Verlag, 1993.
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13
Thornton, Kevin y Michael Gropper. Diagnosis, assessment, and management of hyperthermic crises. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0247.
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Malignant hyperthermia, the neuroleptic malignant syndrome (NMS), and the serotonin syndrome are the principal disorders associated with life-threatening hyperthermia in the intensive care unit. While each is a clinically unique entity, all can progress to multisystem organ dysfunction with acidosis, shock, and death. MH usually results from exposure to halogenated volatile anaesthetics and/or succinylcholine and symptoms of increased CO2 production and respiratory acidosis progress rapidly without prompt intervention, including the administration of dantrolene. NMS is a syndrome of rigidity and altered mental status seen most commonly in patients being treated with antipsychotic medications. The serotonin syndrome is seen in patients treated with serotonergic agents including selective serotonin reuptake or monoamine oxidase inhibitors and tricyclic antidepressants. The salient clinical finding is clonus, but agitation, altered mental status and autonomic dysfunction are common. Recognizing the non-specific features of these syndromes presents a challenge as they are life-threatening if not treated promptly and correctly with specific therapies.
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Vester, Udo y Stefanie Weber. Branchio-oto-renal syndrome. Editado por Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0358.
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Branchio-oto-renal (BOR) syndrome involves branchial arch fistulas or cysts, ear malformations with hearing loss, and anomalies of the kidney. BOR syndrome is inherited in an autosomal dominant trait and is caused in most cases by mutations in the EYA1 gene. A few families with gene mutations in SIX1 or SIX5 have also been described. The variability of clinical symptoms is wide. Renal involvement is observed in the majority of cases ranging from mild anomalies (e.g. dilation or duplication of the urinary tract) to severe hypodysplasia of the kidneys which eventually lead to renal failure. Branchio-otic syndrome (BOS) is characterized by branchial arch and ear anomalies without detectable renal pathology. BOR and BOS can be seen within the same family.
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Lawton, Suzanne C. Asperger Syndrome. Praeger, 2007. http://dx.doi.org/10.5040/9798400615344.
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Asperger Syndrome now affects an estimated 10 million children and adults in the United States. Here, Lawton takes an evenhanded look at AS, its development and symptoms, the biological and potential genetic components, the associated physical complaints, and how natural medicine can help. She includes a history of early treatment and current drug and psychotherapy treatments, and explains how diet, blood sugar, and food sensitivities or allergies can play a role. She also looks at the controversy over vaccinations and explains blood tests that can pinpoint a rationale for herbal and homeopathic treatments. The book includes a chapter specifically addressing what is safe to do on your own and when you should seek the help of a medical practitioner. Resources include a listing of AS traits, books that are reliable sources of information, and authoritative Web sites. The spotlight on Asperger Syndrome has been widening with recent attention from mainstream media. This neurological condition, often misdiagnosed as Attention Deficit Disorder, Obsessive Compulsive Disorder, or high-functioning autism is increasingly being recognized, and now affects an estimated 10 million children and adults in the United States alone. Unlike autistic individuals, Asperger sufferers have normal or above normal language, intelligence and cognition, and are often seen as brilliant—verbose with formal speech patterns and superior memory—but they have odd interests, unusual reactions to the environment, inflexibility in routines, poor interaction with people, and inability to form age-appropriate relationships. There is no known cure, but as Suzanne Lawton explains in this work, there are approaches that can reduce or remove the symptoms. While traditional medications are the only option for some sufferers, there are those who can benefit from the natural treatments offered by herbal medicine, diet and nutrition, homeopathy, and amino acids. These drug-free approaches also reduce the physical problems common to Asperger suffers, including stomachaches and headaches and irritable bowel syndrome. says Lawton. Recent FDA warnings regarding the use of psychotropic medications with children (previous treatment has focused on anti-anxiety, anti-depressant, and mood-stabilizing drugs) have fueled the outcry of parents who want to get their children off drugs to avoid the side effects. Here, Lawton takes an evenhanded look at Asperger Syndrome, its development and symptoms, the biological and potential genetic components, the associated physical complaints, and how natural medicine can help. She includes a history of early treatment and current drug and psychotherapy treatments, and explains how diet, blood sugar, and food sensitivities or allergies can play a role. She also looks at the controversy over vaccinations and explains blood tests that can pinpoint a rationale for herbal and homeopathic treatments. Lawton includes a chapter specifically addressing what is safe to do on your own and when you should seek the help of a medical practitioner. Resources include a listing of AS traits, books that are reliable sources of information, and authoritative Web sites.
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Neary, John y Neil Turner. Nutcracker syndrome and phenomenon. Editado por Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0048.
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Nutcracker syndrome describes symptomatology associated with obstruction to the left renal vein caused by pressure from the overlying superior mesenteric artery. Modern imaging methods show that some degree of left renal vein obstruction may be a common incidental finding in asymptomatic patients so it is better described as ‘nutcracker phenomenon’, NCP. The association of NCP with symptoms and signs is often speculative. NCP may be seen at any age but most patients with symptoms attributed to it are teenagers or young adults. The strongest evidence is for association with episodic macroscopic haematuria. There is weak evidence that it may in some circumstances account for orthostatic (postural) proteinuria, microscopic haematuria, or pain syndromes. Apart from rare examples of extreme haemorrhage the syndrome has not been associated with life-threatening features other than through complications of treatment. Various interventions have been employed, recently most commonly endovascular or extravascular approaches to stenting the vein, but serious adverse consequences from stent migration and thrombosis have been described.
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Beal, Jules C., Monika Eisermann, Sunita Misra, Phillip L. Pearl, Perrine Plouin, Eli M. Mizrahi y Solomon L. Moshe. Seizures and Epilepsy in Preterm and Term Neonates, Infants, Children, and Adolescents. Editado por Donald L. Schomer y Fernando H. Lopes da Silva. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228484.003.0018.
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Children are often affected by seizure types and epilepsy syndromes that are specific to their age group and distinct from those seen in adults. At the same time, certain epilepsy syndromes affecting the adult population, such as Lennox–Gastaut syndrome and juvenile myoclonic epilepsy, often begin during childhood, as do seizures related to genetic abnormalities. The use of electroencephalography (EEG) and prolonged EEG monitoring has allowed for further insight and greater specificity in identifying and understanding seizures and epilepsy syndromes in children. This chapter reviews the role of EEG in pediatric seizures and the pediatric epilepsies, including electrographic findings in the ictal state and in the interictal period, as well as the correlation with clinical seizure semiology as it contributes to the diagnosis of epileptic phenomena. The chapter discusses EEG patterns, seizure types, and epilepsy syndromes specific to neonates, infants, children, and adolescents.
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Nita, Dragos A., Miguel A. Cortez, Jose Luis Perez Velazquez y O. Carter Snead. Biological Bases of Symptomatic Generalized Epilepsies in Children. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0040.
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Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain involvement, and dysfunction in the intellectual domain (global developmental delay or mental retardation). SGEs include the early myoclonic encephalopathy, early infantile epileptic encephalopathy (Ohtahara syndrome), West syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic absence, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies. SGEs may arise from various genetic, developmental, or acquired brain pathologies and also can be associated with other cerebral or systemic defects and thus being part of a broader epilepsy syndrome phenotype. SGEs are associated with significant mortality and morbidity and most patients with SGE grow up to have intractable epilepsy, mental retardation, and depend on parents and institutions for the activities of the daily living. The mechanisms of SGE are numerous and heterogeneous and the EEG findings usually reflect the age-related changes as the brain matures.
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Teixeira, Antonio, Erin Furr Stimming y William G. Ondo, eds. Movement Disorders in Psychiatry. Oxford University PressNew York, 2022. http://dx.doi.org/10.1093/med/9780197574317.001.0001.
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Abstract Movement Disorders in Psychiatry examines the complex interface between movement disorders and psychiatry, addressing both specific movement disorders in psychiatry, and behavioral syndromes associated with diseases categorized as movement disorders. After an overview of the clinical definitions and pathophysiology of movement disorders in Part 1, Part 2 reviews a series of movement disorders associated with drugs of abuse and psychotropic medications, including tardive dyskinesia, akathisia, and neuroleptic malignant syndrome. Part 3 discusses movement disorders seen in primary psychiatric disorders such as autism and schizophrenia. Finally, Part 4 examines diseases with concurrent movement disorder and behavioral symptoms, including Huntington’s disease, Parkinson’s disease, frontotemporal dementia, Tourette’s syndrome, and autoimmune conditions. The book provides an in-depth and up-to-date perspective of the field, also discussing the challenges in the clinical practice.
20
Turner, Neil y Premil Rajakrishna. Pathophysiology of oedema in nephrotic syndrome. Editado por Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0053.
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The mechanism by which loss of serum proteins into the urine causes expansion of extracellular fluid volume and oedema has become clearer. A key initiating abnormality is avid sodium retention by the kidney, leading to increased whole-body sodium and increased extracellular fluid volume. This appears to be driven primarily by overactivation of the amiloride-sensitive epithelial sodium channel (ENaC) in the collecting duct, activated proteolytically through abnormal filtration of plasminogen, and its activation to plasmin in the nephron. Conventional explanations for nephrotic oedema focused on low colloid osmotic pressure as a consequence of loss of serum proteins, leading to egress of extracellular fluid from the intravascular compartment. It was hypothesized that this led to underfilling of the circulation and a drive to sodium retention. While low osmotic pressure may play a part in the clinical picture of nephrotic syndrome, a variety of observations suggest that underfilling is not a common feature except in the most severe nephrotic syndrome. Furthermore the gradient in colloid osmotic pressure between serum and interstitium tends to be preserved in nephrotic syndrome. The distribution of excess extracellular fluid is markedly different in patients with nephrotic syndrome from that seen in patients who have reduced glomerular filtration rate as the cause of sodium retention. This is not fully understood but hypotheses centre on capillary permeability and colloid osmotic pressure effects.
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Vasudev, Akshya. Manic syndromes in old age. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199644957.003.0044.
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Manic syndromes in the elderly are different from those seen in the younger bipolar population. They are a heterogenous group but can probably be divided into two main groups based on age of onset of the illness: late onset bipolar disorder (LOB) and early onset bipolar disorder (EOB). This chapter elaborates on differences in these two groups based on epidemiological data findings, clinical presentation, aetiopathogenesis and management. Latest concepts with regards to the vascular mania hypothesis, neuroimaging findings, cognitive impairment in bipolar disorder are also dealt with. A critical review of pharmacological management options is also provided with reference to recently published data on mood stabilisers, antipsychotic and antidepressant usage for this age group.
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Preece, Lindsey Henderson. Out of Breath a Memoir: Sean Henderson and His True Adventures with Proteus Syndrome. BookBaby, 2019.
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Firth, Helen V. y Jane A. Hurst. Common consultations. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0003.
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This chapter presents some of the disorders more commonly seen in a genetics clinic from achondroplasia to autosomal dominant polycystic kidney disease, Alport syndrome, androgen insensitivity syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, congenital adrenal hyperplasia, glaucoma, haemochromatosis, hereditary spastic paraplegias, Leigh encephalopathy, Marfan’s syndrome, Noonan syndrome, and many others. It gives an explanation of the clinical approach, the history, the examination, the investigation, and the diagnosis and lists the support groups.
24
Das AD/HS-Syndrom beim Kind und die Bedeutung für seine Familie. GRIN Verlag GmbH, 2007.
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25
Leierseder, Joseph. Das Kompartment-Syndrom des Unterschenkels und seine Folgezustände: Pathoätiologie, Diagnose und Therapie. 1987.
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26
Baloh, Robert W. Hallpike Defines the Syndrome of Benign Paroxysmal Positional Vertigo. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190600129.003.0016.
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In 1952, Charles Hallpike and Margaret Dix published a paper in which they described the clinical profile of three of the most common causes of vertigo—Ménière’s disease, vestibular neuronitis, and benign paroxysmal positional vertigo (BPPV). Their strategy was simple: First, identify the symptoms and natural history of the disease, then document the physical signs associated with the disease, and finally, when possible, correlate the clinical features with histological studies of the temporal bones. They provided the first clear clinical description and the first pathology associated with the syndrome of BPPV. They described the clinical features of a large number of cases they had seen in the Queen Square clinic. They concluded that positional nystagmus of the benign paroxysmal type, first described by Robert Bárány in 1921, was due, as Bárány believed, to otolith disease.
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Wefer, Indra. Sahel-Syndrom Als ein Fallbeispiel des Syndromansatzes und Seine Anwendung in der Schule. GRIN Verlag GmbH, 2010.
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28
Carstensen, Sarah. Welche Voraussetzungen Müssen Für eine Erfolgreiche Integration Von Kindern Mit down-Syndrom in Den Regelkindergarten Gegeben Sein? GRIN Verlag GmbH, 2018.
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Orlikowski, David y Tarek Sharshar. Epidemiology, diagnosis, and assessment of neuromuscular syndromes. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0243.
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Admission to ICU with severe limb weakness, or the occurrence of a respiratory or motor deficit, and failure to wean from mechanical ventilation while in the intensive care unit are common presentations of a neuromuscular disease. Neuromuscular diseases include neuronopathies, neuropathies, myasthenic syndromes, and myopathies. An accurate neurological examination and complementary investigations are necessary for both diagnosis and for evaluating the severity of the disease. Assessment of respiratory muscle function is a key step in deciding the need for mechanical ventilation and subsequently its weaning. Hypercapnia often indicates an impending respiratory arrest, but normocapnia, which can be seen in a patient with severe reduction in vital capacity is not reassuring. Hypoxaemia can be due to hypercapnia, pulmonary injury (atelectasis or pneumonia), or pulmonary embolism. Cardiac evaluation is important as cardiomyopathies are frequent in myopathies.
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Katirji, Bashar. Case 23. Editado por Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0027.
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Guillain-Barré syndrome is the prototype of acute immune-mediated neuropathies. Guillain-Barré syndrome has several subtypes including acute inflammatory demyelinating polyneuropathy, acute motor axonal neuropathy, and acute motor sensory axonal neuropathy. Guillain-Barré syndrome has also several variants including Miller Fisher syndrome, ataxic form, and pharyngeal–cervical–brachial form. This case highlights the clinical findings in Guillain-Barré syndrome and discusses in details the diagnostic criteria that are essential in confirming the diagnosis and excluding mimickers of the disorder. This is followed by a detailed discussion on the electrodiagnostic findings in Guillain-Barré syndrome during the acute presentation and recovery phase. The diagnostic sensitivity and specificity of the various findings seen on nerve conduction studies are included.
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Shrivastava, Seema, Beverley J. Hunt y Anthony Dorling. Coagulopathies in chronic kidney disease. Editado por David J. Goldsmith. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0135.
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Coagulation abnormalities are common in chronic kidney disease (CKD). Both haemorrhage and thrombosis are more common than in the general population. Haemorrhage, when it occurs, is associated with increased morbidity and mortality compared to that seen in non-uraemic patients. It is more likely spontaneously, but particularly in association with anti-platelet agents or anticoagulants. The increased risk of both arterial and venous thrombosis occurs in part because of the increase prevalence of traditional risk factors for thrombosis in CKD, in part because of the specific problems associated with nephrotic syndrome, and also because of specific putative prothrombotic factors associated with CKD, such as increased levels of coagulation factors and altered platelet function associated with uraemia. Two syndromes, both characterized by intravascular thrombosis can contribute to the development of CKD. The first is antiphospholipid syndrome, due to the presence of antibodies against negatively charged phospholipids, in which thrombosis of the renal vasculature is relatively common. The second is a group of conditions, the thrombotic microangiopathies, in which inherited or acquired deficiencies of ADAMTS13, antiphospholipid antibodies, or pathological endothelial cell activation in renal vessels, sometimes due to functional deficiencies of one or more proteins regulating coagulation or complement activation, leads to acute renal dysfunction associated with anaemia.
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Sybert, Virginia P. Disorders of Subcutaneous Tissue. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0006.
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Cerebrotendinous Xanthomatosis – Familial Multiple Lipomatosis – Familial Symmetric Lipomatosis – Fibrodysplasia Ossificans Progressiva – Lipogranulomatosis – Partial Lipodystrophy – Seip-Berardinelli Syndrome
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Das Hollywood-Syndrom: Wer schläft schon gern mit Barbie-Puppen-- : von der Angst, nicht schön genug zu sein. München: Mosaik Verlag, 1993.
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Burrell, James R. y John R. Hodges. Dementia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0010.
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Cognitive neurology has exploded over the last century, and especially over the last 20 years. From the distinction of dementia as a pathological entity, rather than just ‘normal’ ageing, to more sophisticated sub-classification of dementia syndromes, much has been learned, though great challenges remain. From an incredible array of worthy research studies, ten landmark papers in the field of dementia are presented in this chapter. With regard to Alzheimer’s disease, the following are discussed: the initial description of the disease, both clinically and pathologically; the development of meaningful clinical assessment measures; the early clinical manifestations and genetic causes; the precursors to symptomatic treatment; the use of neuroimaging to identify amyloid pathology in vivo; and the staging of Alzheimer’s pathology. The clinical features and genetic causes of frontotemporal dementia, an important non-Alzheimer’s primary dementia syndrome seen especially in younger patients, are also discussed.
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Hodges, John R. Localized Cognitive Functions. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198749189.003.0003.
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This chapter discusses localized cognitive functions. The functions ascribed to the dominant, usually left, cerebral hemisphere show much more clear-cut laterality than those associated with the so-called minor hemisphere. This applies particularly to spoken language. This chapter discusses aspects of normal and abnormal language function in the framework of contemporary cognitive neuroscience with descriptions of the classic post-stroke variants of aphasia (Broca’s, Wernicke’s, conduction, etc.) although these are rarely seen in the context of neurodegenerative diseases. There is also a description of disorders of written language (the dyslexias and dysgraphias), of calculation (acalculia), and of higher-order motor control (apraxia). This is followed by descriptions of the syndromes associated with disturbed right hemisphere functions: neglect phenomena, dressing and constructional apraxia, and complex visuoperceptual disorders (agnosias). Each cognitive syndrome is placed in the context of its neural basis, disorders which affect the ability and methods of assessment at the bedside and using neuropsychological tasks.
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Walsh, Richard A. “I Have Never Seen Anything Like It Before”. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0024.
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Functional movement disorders represent up to 20% of cases referred to some movement disorders clinics. The longer the symptoms are present,, the lower the success rate in resolving functional syndromes. A good knowledge of the positive features on clinical examination that facilitate an early diagnosis is important. Psychiatric or psychological factors need not be present at the time of presentation to make a diagnosis of functional disease. This assists in the diagnosis and may allow closer and valuable involvement from psychiatry colleagues. Close and primary involvement of a neurologist to allow a diagnosis to be made in a timely manner to avoid unnecessary investigations is important.
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Sills, Irene N. y Martin M. Fisher, eds. AM:STARs: Advances in the Treatment of Endocrine Disorders in Adolescents, Vol. 26, No. 2. American Academy of Pediatrics, 2015. http://dx.doi.org/10.1542/9781581109498.
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There are a series of endocrine disorders that can affect adolescents, some of which are related to growth and development and others that can occur at any age but may have specific implication for the adolescent age group. This issue provides a comprehensive update of endocrine issues seen in adolescents, with a focus on recent advances in diagnosis and treatment. Contents in Advances in the Treatment of Endocrine Disorders in Adolescents include Thyroid Disorders Update on Diabetes Melitus Disorders of Growth and Puberty Bone Health in Adolescents Polycystic Ovarian Syndrome Adrenal Disorders Lipid Disorders Endocrine Disorders in Pregnancy Endocrine Abnormalities in Patients with Eating Disorders Turner syndrome and Klinefelter Syndrome Disorders of Sex Development Endocrine Disorders in Adolescent Cancer Survivors
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Bodor, Marko, Sean Colio y Christopher Bonzon. Hand and Wrist Injections: Ultrasound. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199908004.003.0045.
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Two basic ultrasound-guided approaches are used for procedures to diagnose and treat chronic pain in the upper extremity. The short-axis approach is best for injections of superficial, vertically oriented joints, whereas the long-axis approach is best for relatively deep injections and more open joints or whenever it is necessary for the needle to be seen at all times. Ultrasound can guide injections for nerve compressions. Carpal tunnel syndrome is the most common peripheral nerve entrapment syndrome. Ulnar tunnel syndrome occurs in the setting of space-occupying lesions. Ultrasonography can identify a space-occupying lesion, while electrodiagnostic studies can help differentiate ulnar neuropathy at the wrist from ulnar neuropathy at the elbow. Ultrasound can also guide injections at joints such as the basilar join of the thumb, phalangeal joints, and wrist joints. Ultrasound-guided injections are also useful for tendon dysfunctions including de Quervain’s Tenosynovitis, trigger finger, intersection syndrome, and tendon impingement.
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Sybert, Virginia P. Disorders of Subcutaneous Tissue. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0006.
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Chapter 6 covers Cerebrotendinous Xanthomatosis, Familial Multiple Lipomatosis, Familial Symmetric Lipomatosis, Fibrodysplasia Ossificans Progressiva, Lipogranulomatosis, Partial Lipodystrophy, and Berardinelli-Seip Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
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Muchowski, Karen. Pain and Addiction in Patients with Fibromyalgia (DRAFT). Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190265366.003.0028.
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The opening passages in this discussion of the interface between fibromyalgia, a chronic pain syndrome, and addiction describe background pathophysiology. Typical patients are discussed in terms of their historic and physical findings, leading to a review of the non-pharmacological and pharmacological managements available for this syndrome. While the diagnosis of fibromyalgia is commonly mischaracterized as attention-seeking behavior or feigned helplessness, many of the behaviors seen in fibromyalgia also are present in other, more accepted chronic disorders, from diabetes to HIV disease. Providing both an accepting manner and an assertive management approach toward the syndrome, the authors note significant improvement in patients who undergo aerobic exercise programs, as well as complementary and integrative medical strategies such as acupuncture, and meditative movement therapies such as yoga. Improvement in sleep patterns is commonly associated with overall symptom reduction.
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Płońska-Gościniak, Edyta, Michal Ciurzynski, Marcin Fijalkowski, Piotr Gosciniak, Piotr Szymanski, Tomasz Pasierski, Daniel Rodriguez Muñoz y José Luis Zamorano. Cardiac involvement in systemic diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198726012.003.0057.
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Cardiovascular features in systemic diseases are common. Transthoracic echocardiography represents a first-line diagnostic tool among these patients. Pericarditis is the most frequent cardiac complication of rheumatoid arthritis. In systemic lupus erythematosus, echocardiography shows usually small or moderate pericardial effusion in up to 55% of patients. In this group, Libman-Sacks vegetations develop mainly on the mitral valve but also can be seen on other valves. Pulmonary hypertension is one of the most important complications adversely influencing survival of systemic sclerosis patients. In antiphospholipid syndrome, the most common echocardiographic abnormality is diffuse or focal leaflet thickening, seen in 40-60% of subjects. Among Marfan syndrome patients, aortic root aneurysm is the most dangerous complication. In this chapter the authors also report the echocardiographic abnormalities occurring in rare systemic diseases including carcinoid, haemochromatosis, sarcoidosis, and amyloidosis. Moreover, echocardiographic changes in neoplastic disease and in patients undergoing chemotherapy and/or radiotherapy are also described.
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Soni, Neil. Assessment and management of fat embolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0337.
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Fat embolism syndrome is a complication of a range of conditions. It is hard to prevent, difficult to diagnose, and there is no specific effective treatment. The syndrome is composed of respiratory, haematological, neurological, and cutaneous symptoms and signs associated with trauma, in particular long bone fractures, and other disparate surgical and medical conditions. It most commonly follows orthopaedic surgery, but can also follow liposuction and medical conditions, as disparate as cardiopulmonary resuscitation and sickle cell disease are possible precipitants. The pathogenesis is still debated. It is clear that while fat emboli occur quite commonly, the clinical syndrome with respiratory, neurological, and other sequelae is rare. Diagnosis is by pattern recognition, but recently characteristic features seen on cerebral magnetic resonance imaging can be used to increase the probability of the diagnosis. Various therapeutic options have been tried and failed and treatment is currently supportive.
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Baumgaertner, Annette. Mixed Transcortical Aphasia: Repetition without Meaning. Editado por Anastasia M. Raymer y Leslie J. Gonzalez Rothi. Oxford University Press, 2015. http://dx.doi.org/10.1093/oxfordhb/9780199772391.013.10.
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Although mixed transcortical aphasia (MTA) is a rare syndrome, it constitutes an interesting case for modern neuroanatomically driven language models. This is because its existence may be seen as congruent with the assumption of an independently operating “dorsal stream” in language processing. Predicted by the earliest models of language processing in the brain, the syndrome also pushes the boundaries of neurolinguistic model building because its symptoms arise from an interplay between partially preserved linguistic functions and partially disrupted amodal higher-order cognitive control mechanisms. In summarizing 15 case reports of persons with MTA, this chapter provides details about neurobiological underpinnings, performance during standard language assessments, and speech characteristics of persons diagnosed as having MTA. The chapter raises critical issues, such as the question of how to operationalize “spared repetition,” and the difficulty of clearly differentiating between volitional repetition and nonvolitional echolalia. Data on the evolution of the syndrome are included, and assessment as well as treatment of MTA are discussed.
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Katirji, Bashar. Electrodiagnostic Findings in Neuromuscular Disorders. Editado por Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0004.
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Neuromuscular disorders are often classified into four major categories: anterior horn cell disorders, peripheral neuropathies, neuromuscular junction disorders and myopathies. This chapter discusses the electrodiagnostic and clinical EMG findings in these various neuromuscular disorders. Peripheral neuropathies are subdivided into focal mononeuropathies, radiculopathies, plexopathies and generalized peripheral polyneuropathies. Focal peripheral nerve lesions and generalized peripheral polyneuropathies may be axonal or demyelinating, and manifest quite distinctly on nerve conduction studies. Neuromuscular junction disorders may be presynaptic, as seen with the Lambert-Eaton myasthenic syndrome, or postsynaptic, as seen with myasthenia gravis.
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Miller, Aaron E. y Teresa M. DeAngelis. NMDA Receptor Encephalitis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199732920.003.0029.
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NMDA receptor encephalitis is a rare and underdiagnosed autoimmune mediated, often paraneoplastic, syndrome seen in young women with idiopathic neuropsychiatric illness. It is a potentially fatal illness and early identification and treatment can have critical prognostic implications. In this chapter, we review the typical clinical and laboratory features, which should raise suspicion for this condition, and therapeutic and supportive care recommendations.
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Rossor, Martin. Neuropsychological disorders, dementia, and behavioural neurology. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0755.
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The diseases which disrupt the cerebral cortex and its subcortical connections result in a wide variety of clinical features. These include the classical syndromes of higher cortical dysfunction such as the dysphasias, dyspraxias, amnesias, and agnosias together with a wide variety of behavioural and emotional disturbances. Such disorders frequently overlap with the clinical disciplines of clinical psychology and psychiatry. Historically there has been a broad split between those diseases which are seen by neurologists and those that are seen by psychiatrists. To some extent the distinction reflects the different clinical approaches employed; neurologists concentrate on the generality of disease caused by lesions in defined areas, whereas psychiatrists often deal with diseases that show a greater interaction with the individuals own personal history and place in society (Lishman 1987). In this chapter disturbances of higher cortical function, the dementias, and behavioural aspects of neurological lesions are discussed. Awareness of the occasional presentation of psychiatric disease to the neurologists is important and further details are available in textbooks of psychiatry. A review of clinical syndromes referable to identified areas of the cerebral cortex, is followed by a functional approach which discusses the main neuropsychological syndromes. The more generalized cognitive impairment seen with the dementias such as Alzheimer’s disease, dementia with Lewy bodies, and the frontotemporal lobar degenerations are then reviewed followed by areas of neuropsychiatric overlap.
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Gala, Raj J. y James Yue. Lumbar Neurogenic Claudication. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190626761.003.0010.
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Lumbar neurogenic claudication, sometimes referred to as pseudoclaudication, is the clinical syndrome of back pain radiating down one or both legs during ambulation. Classically, the symptoms abate with forward flexion of the lumbar spine and worsen with extension. The condition arises from lumbar spinal stenosis, which is common in the elderly population. Many asymptomatic individuals have lumbar spinal stenosis seen on magnetic resonance imaging (MRI), so this syndrome is a clinical diagnosis. The majority of patients have favorable responses with conservative treatment, which includes physical therapy, bracing, medications, and epidural steroid injections. Patients who do not improve may go on to have surgery. Spinal stenosis has become one of the most common reasons to undergo lumbar spinal surgery in patients older than 65 years of age.
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Beattie, R. Mark, Anil Dhawan y John W.L. Puntis. Gastrointestinal polyposis. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0031.
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Hamartoms 220Adenomas 221Hyperplastic polyps 221Inflammatory polyps 222Polyps generally present with painless rectal bleeding or through genetic screening of affected families with polyposis syndromes. There are various types, as listed in Table 31.1. Juvenile polyps (hamartomas) are the most commonly seen and generally benign....
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Chung, Melissa y Warren Lo. Pediatric Stroke. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0106.
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A variety of congenital and genetic disorders not seen frequently in adults may be responsible for stroke in infants and children. Stroke in newborn infants is as common as stroke in elderly individuals due to risk factor such as congenital heart disease, thrombophilia associated with polycythemia in neonates and genetic disorders, high estrogen impact from the mother during pregnancy, and inflammation due to infections. Stroke can also be caused by genetic disorders such as Ehleers-Danlos syndrome, Sturge-Weber syndrome, and vasculopathies such as lupus and fibromuscular dysplasia. Arterial dissection may be related to trauma and athletic injuries. Some drugs used to treat cancer such as asparaginase can also cause strokes, and infants and children can also present with venous sinus thrombosis associated with critical illness and dehydration.
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Libon, David J., Melissa Lamar, Rodney A. Swenson y Kenneth M. Heilman, eds. Vascular Disease, Alzheimer's Disease, and Mild Cognitive Impairment. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190634230.001.0001.
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Alzheimer’s disease and vascular dementia are acknowledged as the two most common types of dementia. Each of these dementia syndromes are associated with prodromal clinical syndromes, often referred to as mild cognitive impairment. Recent research has demonstrated considerable heterogeneity regarding the underlying neuropathology associated with these dementia syndromes and their prodromal disorders. Thus, it is often difficult to understand how or what underlying biological substrate is actually responsible for the alterations in neurocognition and behaviour as seen in clinical evaluations. This inherent neuropsychological and neuropathology heterogeneity calls into question current paradigms used for diagnosis and clinical trials designed to treat these disorders. This volume summarizes our current understanding regarding the inherent clinical, neuropathological, and biological heterogeneity in Alzheimer’s disease, vascular dementia, and mild cognitive impairment and suggests that these disorders are best viewed as existing along a continuum rather than treated as separate and distinct clinical syndromes. In this book, we put forth the point of view that dementia such as Alzheimer’s disease and vascular dementia; and subtle pre-dementia syndromes such as mild cognitive impairment are best viewed as existing along a continuum rather than distinct and separate disorders.