Books: 'Genetic/blood disorders'

1

Bahou, Wadie Farid. Genetics for haematologists: The molecular genetic basis of haematological disorders. London: ReMEDICA, 2000.

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2

Dr, Cooper David N., ed. The molecular genetics of haemostasis and its inherited disorders. Oxford: Oxford University Press, 1994.

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3

Blood matters: A journey along the genetic frontier. London: Granta, 2009.

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4

Molecular genetics and immunoanalysis in blood coagulation. Weinheim, F.R.G: VCH, 1988.

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5

International, Symposium on Blood Transfusion (19th 1994 Groningen Netherlands). Hereditary diseases and blood transfusion: Proceedings of the Nineteenth International Symposium on Blood Transfusion, Groningen, 1994. Dordrecht: Kluwer Academic, 1995.

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6

James, Andra H. 100 questions & answers about Von Willebrand disease. Sudbury, Mass: Jones and Bartlett, 2009.

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7

Davie, E. W. (Earl W.), Sueishi Katsuo, Ikeda Yasuo, Iwanaga Sadaaki, Saitō Hidehiko 1939-, and SpringerLink (Online service), eds. Recent Advances in Thrombosis and Hemostasis 2008. Tokyo: Springer Japan, 2008.

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8

Parker, James N., and Philip M. Parker. X-linked sideroblastic anemia: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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9

Parker, James N., and Philip M. Parker. Abetalipoproteinemia: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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10

Parker, James N., and Philip M. Parker. Smith-Lemli-Opitz syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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11

Spyrou, Bartsokas Chrēstos, Loukopoulos Dimitris 1935-, and International Clinical Genetics Seminar (6th : 1990 : Kerkyra, Greece), eds. Genetics of hematological disorders. New York: Hemisphere Pub. Corp., 1992.

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12

C.Th. Smit Sibinga (Editor), P. C. Das (Editor), and E. Briët (Editor), eds. Hereditary Diseases and Blood Transfusion. Springer, 1995.

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13

Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. Red cell disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0002.

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The peripheral blood film in anaemias - Anaemia in renal disease - Anaemia in endocrine disease - Anaemia in joint disease - Anaemia in gastrointestinal disease - Anaemia in liver disease - Iron (Fe) deficiency anaemia - Vitamin B12 deficiency - Folate deficiency - Other causes of megaloblastic anaemia - Anaemia in other deficiency states - Haemolytic syndromes - Genetic control of haemoglobin production - Sickling disorders - HbS—sickle-modifying therapies - Sickle cell trait (HbAS) - Other sickling disorders - Other haemoglobinopathies - Unstable haemoglobins - Thalassaemias - α thalassaemia - β thalassaemia - Other thalassaemias - Hereditary persistence of fetal haemoglobin - Hb patterns in haemoglobin disorders - Non-immune haemolysis - Hereditary spherocytosis - Hereditary elliptocytosis - Glucose-6-phosphate dehydrogenase (G6PD) deficiency - Pyruvate kinase deficiency - Other red cell enzymopathies - Drug-induced haemolytic anaemia - Methaemoglobinaemia - Microangiopathic haemolytic anaemia - Acanthocytosis - Autoimmune haemolytic anaemia - Cold haemagglutinin disease - Leucoerythroblastic anaemia - Aplastic anaemia - Paroxysmal nocturnal haemoglobinuria - Pure red cell aplasia - Iron (Fe) overload - Transfusion haemosiderosis

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14

Provan, Drew, Trevor Baglin, Inderjeet Dokal, Johannes de Vos, Banu Kaya, and Angela Theodoulou. Red cell disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199683307.003.0002_update_001.

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The peripheral blood film in anaemias - Anaemia in renal disease - Anaemia in endocrine disease - Anaemia in joint disease - Anaemia in gastrointestinal disease - Anaemia in liver disease - Iron (Fe) deficiency anaemia - Vitamin B12 deficiency - Folate deficiency - Other causes of megaloblastic anaemia - Anaemia in other deficiency states - Haemolytic syndromes - Genetic control of haemoglobin production - Sickling disorders - HbS—sickle-modifying therapies - Sickle cell trait (HbAS) - Other sickling disorders - Other haemoglobinopathies - Unstable haemoglobins - Thalassaemias - α‎ thalassaemia - β‎ thalassaemia - Other thalassaemias - Hereditary persistence of fetal haemoglobin - Hb patterns in haemoglobin disorders - Non-immune haemolysis - Hereditary spherocytosis - Hereditary elliptocytosis - Glucose-6-phosphate dehydrogenase (G6PD) deficiency - Pyruvate kinase deficiency - Other red cell enzymopathies - Drug-induced haemolytic anaemia - Methaemoglobinaemia - Microangiopathic haemolytic anaemia - Acanthocytosis - Autoimmune haemolytic anaemia - Cold haemagglutinin disease - Leucoerythroblastic anaemia - Aplastic anaemia - Paroxysmal nocturnal haemoglobinuria - Pure red cell aplasia - Iron (Fe) overload - Transfusion haemosiderosis

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15

McShane, Tony, Peter Clayton, Michael Donaghy, and Robert Surtees. Neurometabolic disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0213.

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Various disorders result from genetically determined abnormalities of enzymes, the metabolic consequences of which affect the development or functioning of the nervous system. The range of metabolic disturbances is wide, as is the resultant range of clinical syndromes. Although most occur in children, some can present in adult life, and increasing numbers of affected children survive into adult life. In some, specific treatments are possible or are being developed. The last 20 years has seen a considerable expansion in our understanding of the genetic and metabolic basis for many neurological conditions. Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. Detailed coverage of the entire range of inherited metabolic diseases of the nervous system is available in other texts (Brett 1997; Scriver et al. 2001; Menkes et al. 2005).Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Neonatal screening for this disorder and dietary modification in the developed world has removed phenylketonuria from the list of important causes of serious neurological disability in children. This success has led to new challenges in the management of the adult with phenylketonuria and unexpected and devastating effect of the disorder on the unborn child of an untreated Phenylketonuria mother. More recently Biotinidase deficiency has been recognized as an important and easily treatable cause of serious neurological disease usually presenting with early onset drug resistant seizures. This and some other neurometabolic diseases can be identified on neonatal blood screening although a full range of screening is not yet routine in the United Kingdom. More disorders are likely to be picked up at an earlier asymptomatic stage as the sophistication of screening tests increases (Wilcken et al. 2003; Bodamer et al. 2007).Although individual metabolic disorders are rare, collectively such disorders are relatively common. In reality most clinicians will see an individual condition only rarely in a career. Furthermore, patients with certain rare conditions are often concentrated in specialist referral centres, further reducing the exposure of general and paediatric neurologists to these disorders. A recent study into progressive intellectual and neurological deterioration, PIND, gives some information about the relative frequency and distribution of some childhood neurodegenerative diseases in the United Kingdom (Verity et al. 2000; Devereux et al. 2004). Although primarily designed to identify any childhood cases of variant Creutzfeldt- Jakob disease, the study also provided much information about the distribution of neurometabolic disease in children in the United Kingdom. The commonest five causes of progressive intellectual and neurological deterioration over 5 years were Sanfilippo syndrome, 41 cases, adrenoleukodystrophy, 32 cases, late infantile neuronal ceroid lipofuschinosis, 32 cases, mitochondrial cytopathy, 30 cases, and Rett syndrome, 29 cases. Notably, geographical foci of these disorders were also found and correlate with high rate of consanguinity in some local populations.

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16

Moser, Janet. Von Willebrand factor: Measurement, changes during pregnancy, and inheritance of von Willebrand factor deficiency. 1994.

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17

J, Weatherall D., ed. Disorders of hemoglobin: Genetics, pathophysiology, and clinical management. 2nd ed. Cambridge: Cambridge University Press, 2009.

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18

(Foreword), H. Franklin Bunn, Martin H. Steinberg (Editor), Bernard G. Forget (Editor), Douglas R. Higgs (Editor), and Ronald L. Nagel (Editor), eds. Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Cambridge University Press, 2001.

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19

LaGrave, Danielle, Patricia L. Devers Winters, and Geralyn Lambert-Messerlian. Prenatal Screening Technologies and Test Issues. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190604929.003.0007.

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Maternal serum screening began with the measurement of serum alpha fetal protein to detect open neural tube defects, which led to the implementation of routine serum-based prenatal screening in the second trimester for Down syndrome. Advances via combined and integrated screening allowed for the first-trimester detection of both Down syndrome and trisomy 18. Next-generation sequencing has enabled the identification of aneuploidies in circulating cell-free fetal DNA from the plasma fraction of maternal whole blood. This breakthrough in molecular genetic testing, commonly referred to as noninvasive prenatal testing, has revolutionized prenatal screening and testing for genetic disorders without posing additional risk to the pregnancy. This chapter reviews the history of maternal serum screening, the disorders it can detect, the methods of calculating patient-specific risk, and reasons for recalculation or adjustment of risk. This chapter also reviews of cell-free DNA-based testing for fetal aneuploidies, including its limitations and potential.

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20

Fuglsang-Frederiksen, Anders, Kirsten Pugdahl, and Hatice Tankisi. Quantitative electromyography. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0008.

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Several quantitative electromyography (QEMG) methods are used for diagnosing and monitoring in patients with neuromuscular disorders. At weak effort of the muscle, motor unit potential (MUP) analyses as individual MUP, multi-MUP, and macro-EMG are diagnostically sensitive and well tested. At higher effort of the muscle, interference pattern analyses such as the turns amplitude analysis are also diagnostically sensitive. Other potential diagnostic methods are power spectrum analysis, muscle fibre conduction velocity analysis, and some surface EMG methods. In patients with myopathy, QEMG has an important role in the diagnosis as a supplement to blood tests, muscle biopsy, and genetic testing. In patients with neurogenic disorders such as anterior horn cell disorders, peripheral nerve lesions, or polyneuropathy, QEMG has important roles in characterizing the lesion and differential diagnosis. Furthermore, QEMG may be useful in the examination of patients with neuromuscular transmission failure, critical illness disorders, and in treatment of dystonic muscle with botulinum toxin.

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21

Borges, Karin. Triheptanoin in Epilepsy and Beyond. Edited by Dominic P. D’Agostino. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0034.

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Triheptanoin, the triglyceride of heptanoate (C7 fatty acid), is a novel treatment that is being used to treat patients with rare genetic metabolic disorders. When taken orally, triheptanoin is hydrolyzed in the gastrointestinal tract to heptanoate, which is thought to diffuse into the blood and body. Heptanoate and its liver ketone metabolites are then metabolized within cells to propionyl-CoA, which after carboxylation produces succinyl-CoA, resulting in anaplerosis—the refilling of a deficient tricarboxylic acid cycle. Here, data are summarized and discussed in relation to triheptanoin’s anticonvulsant effects in rodent seizure models. Biochemical data reveal that metabolic alterations found in brains of rodent seizure models can be restored by triheptanoin. Moreover, there are increasing preclinical and clinical studies indicating that triheptanoin is beneficial in other neurological and neuromuscular disorders, which are summarized here. Thus, triheptanoin seems to be a promising treatment for a variety of clinical conditions.

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22

David, Perry, and Pasi K. John, eds. Hemostasis and thrombosis protocols. Totowa, N.J: Humana Press, 1999.

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23

Antwi, Samuel O., Rick J. Jansen, and Gloria M. Petersen. Cancer of the Pancreas. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0032.

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Pancreatic cancer (PC) is an uncommon but often rapidly lethal malignancy. Worldwide, PC is the twelfth most commonly diagnosed cancer and the seventh most common for cancer deaths. Globally, the estimated number of incident cases (338,000) and deaths from PC (330,400) were almost identical in 2012 Etiologic research on PC is complicated by the relatively inaccessible location of the pancreas, obstacles to early diagnosis, aggressiveness and resistance to therapy of these malignancies, and the tendency of PC to progress rapidly. Until recently, the only etiologic factors considered to be definite causes of PC were tobacco use, chronic pancreatitis, and several rare high-penetrance genetic disorders. In the past decade, the evidence for other causal relationships has strengthened, especially for metabolic risk factors (obesity, type II diabetes mellitus, insulin and insulin-like growth factor), chronic local inflammation, heavy alcohol consumption, dietary consumption of grilled meat, and non-O ABO blood type.

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24

ten, Cate Hugo, and Levi Marcel, eds. Molecular mechanisms of disseminated intravascular coagulation. Georgetown, Tex: Landes Bioscience, 2003.

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25

ten, Cate Hugo, and Levi Marcel, eds. Molecular mechanisms of disseminated intravascular coagulation. Georgetown, Tex: Landes Bioscience, 2003.

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26

Lance, Eboni I., and Andrew W. Zimmerman. Sickle Cell Anemia. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0079.

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Sickle cell disease is a genetic hematological disorder involving red blood cells that become deformed when stressed. Patients with homozygous hemoglobin SS disease often have multiple systemic and neurologic complications, particularly stroke. Intellectual disability is commonly seen in the population, in patients with and without a history of stroke, attributed to different underlying mechanisms of brain injury. Autism is rare and not described in sickle cell disease in the literature to date. Many treatments (chronic transfusion therapy, hydroxyurea, bone marrow transplant) are in trials at this time to see if risk of stroke and other neurologic complications can be reduced (ClinicalTrials.gov identifiers: NCT01425307, NCT01389024, NCT00152113).

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27

Di, Liegro Italia, and Savettieri Giovanni, eds. Molecular bases of neurodegeneration, 2005. Kerala, India: Research Signpost, 2005.

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28

van Spronsen, Francjan J., and Robin H. Lachmann. Phenylketonuria and Hyperphenylalaninemia. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0012.

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Phenylketonuria (PKU) is the prototype treatable genetic disorder and most advanced countries have been performing newborn screening for more than 40 years. Institution of a low-protein diet early in life can reduce the concentration of phenylalanine in the blood and the brain, and prevent the severe learning and behavioral difficulties that were historically associated with PKU. Interestingly, as the brain matures it becomes resistant to the toxic effects of phenylalanine. The effects of high phenylalanine levels on the adult brain are a subject of active research, but, unlike the effects on IQ seen in the first decade of life, they appear to be reversible. The most important effect of high phenylalanine levels in adults is teratogenicity, and in many ways the maternal PKU syndrome is a more devastating disease than PKU itself. Fortunately, maternal PKU syndrome is preventable if women with PKU maintain strict control of phenylalanine levels throughout pregnancy.

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29

Waldek, Stephen. Fabry disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0337.

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Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide, which causes a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system. Painful peripheral (‘acral’) neuropathy is characteristic.Key clinical signs are angiokeratoma found by close examination of skin; characteristic eye lesions may be seen; lipid deposits may be seen in urine. Renal biopsy appearances are characteristic and this is commonly where the diagnosis is first made. Increasingly, cardiologists are suspecting the condition in adults with echocardiographic appearances of left ventricular hypertrophy. Diagnosis in men is usually made by measurement of alpha-galactosidase in either white cells or plasma (or using blood spots). Unfortunately, many female patients can have normal enzyme levels so that genetic testing is the only way to confirm a diagnosis. Non-selective screening strategies (e.g. males on renal replacement therapy with uncertain renal diagnoses) have had low yields.

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30

Gu, Wenduo, Yao Xie, and Qingbo Xu. Animal models to study pathophysiology of the vasculature. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198755777.003.0005.

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Animal models are designed to be preliminary tools for a better understanding of the pathogenesis, improvement in diagnosis, prevention, and therapy of vascular diseases in humans. Animal models are easily manageable, as compounding effects of dietary and environmental factors can be controlled experimentally. Blood vessel samples can be taken for detailed experimental and biomolecular examination. A thorough understanding of the animal models used is necessary and complete analysis must be validated so that the data can be extrapolated to humans. There are several species that are used for studying vascular pathophysiology, including mice, rats, rabbits, and pigs. Attracted by the well-defined genetic systems, a number of investigators have begun to use the mouse as an experimental system for arteriosclerosis research. Because vascular disorder is a complicated disease, which includes spontaneous (native) atherosclerosis, transplant arteriosclerosis, vein graft atherosclerosis, and angioplasty-induced restenosis, several models for studying all types of vascular disease have recently been established. Using these animal models, much knowledge concerning the pathogenesis of the disease and therapeutic intervention has been gained. This chapter will not attempt to cover all aspects of animal models, but will rather focus on the major progress in understanding the pathophysiology of the vasculature, the (dis)advantages of a variety of models, and how specific models can be appropriately chosen for different purposes of study.

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Books on the topic 'Genetic/blood disorders'

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