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Libri sul tema "Mucopolysaccharidosis I"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 7 febbraio 2022

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1

1935-, Graucob E., a cura di. Hematologic cytology of storage diseases. Berlin: Springer-Verlag, 1985.

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2

Hendriksz, Christian J., e Francois Karstens. Mucopolysaccharidosis in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0054.

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Abstract (sommario):

There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.

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3

National Institutes of Health (U.S.) e National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, a cura di. The mucopolysaccharidoses. Bethesda, Md: U.S. Dept. of Health and Human Services, National Institutes of Health, 2003.

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4

Lutzko, Carolyn Mary. Gene therapy for canine mucopolysaccharidosis type I. 1999.

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5

Karsten, Stanislav L. Molecular Investigation of Mucopolysaccharidosis Type II (Hunter Syndrome) in Man. Uppsala Universitet, 2000.

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6

Facey, Susan P. d. John. Application of 1,9-dimthylmethylene blue in the measurement of glycosaminoglycans for mucopolysaccharidosis screening. 1995.

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7

Hain, Richard D. W., e Satbir Singh Jassal. Specific non-malignant diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198745457.003.0017.

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Abstract (sommario):

The number of life-limiting conditions in paediatrics is vast, and paediatric palliative medicine is generally based equally on both malignant and non-malignant conditions. There are several medical conditions that are common enough for it to be helpful to know about them in more detail. As all the conditions, by definition, have no cure, it is best to tackle each symptom with which the child presents individually, never forgetting that medical intervention is not the only modality open to us. Common conditions, such as Duchenne muscular dystrophy, mucopolysaccharidosis type 1, mucopolysaccharidosis type 3, Batten’s disease, spinal muscular atrophy, and trisomy 18, are covered in this chapter. Details of clinical features and prognosis are described for each.

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8

Smith, Ashley. Mucopolysaccharidoses. A cura di Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi e Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0049.

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Abstract (sommario):

Mucopolysaccharidoses (MPS) are a group of genetic diseases that affect connective tissues via lack of key lysosomal enzymes. This deficiency leads to storage of partially degraded glycosaminoglycans that build up in multiple organ systems. There are many types of MPS disorders and each has varying features, expected lifespan, enzyme affected, and resulting clinical effect. All MPS are autosomal recessive except Hunter syndrome, which is X-linked. Because each type has a different enzyme deficiency, each has different comorbidities and unique treatment modalities. These patients require multiple anesthetics for diagnostic and surgical interventions. This chapter discusses treatment ad complication issues regarding MPS.

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9

Frawley, Geoff. Mucopolysaccharidoses. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0064.

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Abstract (sommario):

The mucopolysaccharidoses (MPS) are a group of seven chronic progressive diseases caused by deficiencies of 11 different lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs). Hurler syndrome (MPS IH) is an autosomal recessive storage disorder caused by a deficiency of α‎-L-iduronidase. Hunter syndrome (MPS II) is an X-linked recessive disorder of metabolism involving the enzyme iduronate-2-sulfatase. Many of the MPS clinical manifestations have potential anesthetic implications. Significant airway issues are particularly common due to thickening of the soft tissues, enlarged tongue, short immobile neck, and limited mobility of the cervical spine and temporomandibular joints. Spinal deformities, hepatosplenomegaly, airway granulomatous tissue, and recurrent lung infections may inhibit pulmonary function. Odontoid dysplasia and radiographic subluxation of C1 on C2 is common and may cause anterior dislocation of the atlas and spinal cord compression.

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10

Seipel, Catherine P., e Titilopemi A. O. Aina. Mucopolysaccharidoses. A cura di Erin S. Williams, Olutoyin A. Olutoye, Catherine P. Seipel e Titilopemi A. O. Aina. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190678333.003.0059.

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Abstract (sommario):

Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have implications for the anesthetic management of these patients. A detailed history and examination, with a focus on cardiopulmonary status and past airway management, is required pre-operatively. Enzyme replacement therapy and, in select cases, hematopoietic stem cell transplantation may modify disease progression. This chapter illustrates the perioperative considerations necessary to care for patients with this uncommon disease.

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11

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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Abstract (sommario):

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.

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12

Hansen, Hans Georg. Hematologic Cytology of Storage Diseases. Springer, 2011.

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13

Tomatsu, Shunji, Roberto Giugliani, Tadao Orii, Maurizio Scarpa e Paul Harmatz. Mucopolysaccharidoses Update: Medicine and Health / Endocrinology / Metabolic Disorders. Nova Science Publishers, Incorporated, 2018.

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14

Nelson, John. The mucopolysaccharidoses in Northern Ireland: A clinical, genetic and biochemical study. 1986.

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15

Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0011.

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Abstract (sommario):

Porphyrias – Congenital Erythropoietic Porphyria – Erythropoietic Protoporphyria – Hereditary Coproporphyria – Porphyria Cutanea Tarda – Variegate Porphyria – Mucopolysaccharidoses – Hunter Syndrome – Other Metabolic Disorders – Acrodermatitis Enteropathica – Alkaptonuria – Biotinidase Deficiency – Familial Cutaneous Amyloidosis – Prolidase Deficiency

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16

Publications, ICON Health. The Official Parent's Sourcebook on Mucopolysaccharidoses: A Revised and Updated Directory for the Internet Age. Icon Health Publications, 2002.

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17

Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0011.

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Abstract (sommario):

Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). 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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18

Foster, Brogan, e Paul A. Brogan. Systemic diseases. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198738756.003.0004.

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Abstract (sommario):

This chapter covers the full spectrum of systemic diseases in paediatric rheumatology including: the systemic vasculitides (HSP, Kawasaki disease, PAN, ANCA-associated vasculitis, Takayasu arteritis, Behçet's disease, cerebral vasculitis, and many others); juvenile SLE; scleroderma; JDM; overlap syndromes; antiphospholipid syndrome; sarcoid; and paediatric uveitis. In addition, it provides updated descriptions and treatment approaches for autoinflammatory diseases, including recently described diseases such as DADA, SAVI, CANDLE, and many others. Other systemic diseases described in detail include mucopolysaccharidoses and mucolipidoses; musculoskeletal features of chromosomal abnormalities; cystic fibrosis; and inflammatory bowel disease. Treatment guidelines for all these systemic diseases have been fully updated, and aligned with recent evidence-based/consensus European guidance.

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