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dystrophy

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<span class="search-highlight">DYSTROPHIES</span> AND CONGENITAL MYOPATHIES: MYOTONIC <span class="search-highlight">DYSTROPHY</span>  There is promine...
Published: 15 November 2023
DYSTROPHIES AND CONGENITAL MYOPATHIES: MYOTONIC DYSTROPHY Figure 19-1 DYSTROPHIES AND CONGENITAL MYOPATHIES: MYOTONIC DYSTROPHY There is prominent left ventricular dilatation without apparent scarring and uniformity of the myocardium. More about this image found in DYSTROPHIES AND CONGENITAL MYOPATHIES: MYOTONIC DYSTROPHY There is promine...
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<span class="search-highlight">DYSTROPHIES</span> AND CONGENITAL MYOPATHIES: MYOTONIC <span class="search-highlight">DYSTROPHY</span>  Focal left ventr...
Published: 15 November 2023
DYSTROPHIES AND CONGENITAL MYOPATHIES: MYOTONIC DYSTROPHY Figure 19-2 DYSTROPHIES AND CONGENITAL MYOPATHIES: MYOTONIC DYSTROPHY Focal left ventricular scarring (yellow arrow) is seen in the inferolateral left ventricle as well as prominent right ventricular dilatation. More about this image found in DYSTROPHIES AND CONGENITAL MYOPATHIES: MYOTONIC DYSTROPHY Focal left ventr...
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<span class="search-highlight">DYSTROPHIES</span> AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM  A: Marked myoca...
Published: 15 November 2023
DYSTROPHIES AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM Figure 19-3 DYSTROPHIES AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM A: Marked myocardial interstitial (pericellular-type) fibrosis in the setting of muscular dystrophy. B: Fatty change in the setting of myotonic dystrophy. C: Promine... More about this image found in DYSTROPHIES AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM A: Marked myoca...
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<span class="search-highlight">DYSTROPHIES</span> AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM  A: Marked myoca...
Published: 15 November 2023
DYSTROPHIES AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM Figure 19-3 DYSTROPHIES AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM A: Marked myocardial interstitial (pericellular-type) fibrosis in the setting of muscular dystrophy. B: Fatty change in the setting of myotonic dystrophy. C: Promine... More about this image found in DYSTROPHIES AND CONGENITAL MYOPATHIES: HISTOLOGIC SPECTRUM A: Marked myoca...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch19
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
...Table 19-1 MUSCULAR DYSTROPHY AND CONGENITAL MYOPATHY-ASSOCIATED CARDIOMYOPATHIES Cardiomyopathy Gene Inheritance Cardiac Phenotype Dystrophin-associated (Duchenne and Becker muscular dystrophies) DMD X-linked Dilated Emery-Dreifuss muscular dystrophy EMD, FHL1...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch13
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
... General system disease Muscular dystrophies Neuromuscular disorders Sensitivity and toxin reactions Peripartum cardiomyopathy Table 13-3 THE MOGE(S) NOMENCLATURE a Morphofunctional Phenotype Organ/System Involvement Genetic Etiologic Annotation Stage: ACC/AHA Stage...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch14
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
... such as in various types of muscular dystrophy (e.g., type 2 Emery-Dreifuss and limb girdle muscular dystrophies; see chapter 19 ). Patient with LMNA-associated DCM tend to exhibit a characteristic combination of DCM and arrythmias, the latter of which manifests in many ways (atrioventricular block...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch17
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
... ventricular cardiomyopathy . Dysplasia, dystrophy, or myocarditis? Circulation   1996 ; 94 : 983 - 91 . 4. Burke   AP , Farb   A , Tashko   G , Virmani   R.   Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch32
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
...) Pulmonary schistosomiasis Drugs (appetite suppressants, amphetamines) Denatured rapeseed oil (toxic oil syndrome) Table 32-3 CAUSES OF HYPOXIC PULMONARY HYPERTENSION High altitude Chronic upper airway obstruction  Sleep apnea  Enlarged tonsils Kyphoscoliosis Muscular dystrophy...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch25
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
.... Shimoyama   T , Hayashi   H , Suzuki   F , et al . Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient . J Clin Neurosci   2020 ; 74 : 242 - 4 . 26. Bowles   NE , Jou   CJ , Arrington   CB , et al...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 15
Published: 01 March 2023
10.55418/9781933477275-15
ISBN-10: 1-933477-27-X
ISBN: 978-1-933477-27-5
... . Chronic pancreatitis of alcoholic and nonalcoholic origin . Semin Diagn Pathol   2004 ; 21 : 227 - 36 . 9. Adsay   NV , Zamboni   G . Paraduodenal pancreatitis: a clinicopathologically distinct entity unifying “cystic dystrophy of heterotopic pancreas,” “paraduodenal wall cyst,” and “groove...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 14
Published: 01 February 2023
10.55418/9781933477268-5
ISBN-10: 1-933477-26-1
ISBN: 978-1-933477-26-8
... for the follow-up of women with vulvar lichen sclerosus in specialist clinics . Am J Obstet Gynecol   2008 ; 198 : 496.e1 - 3 . 88. Rodke   G , Friedrich   EG , Wilkinson   EJ . Malignant potential of mixed vulvar dystrophy (lichen sclerosus associated with squamous cell hyperplasia) . J...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
10.55418/9781933477251-2
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
... polyendocrinolpathy-candidiasis-ectodermal-dystrophy) or AIRE (autoimmune regulator) gene (21q22.3) Autoantigens to calcium sensing receptor Hypoparathyroidism Table 2-3 HYPOPARATHYROID DISORDERS WITH KNOWN GENETIC ABNORMALITIES Syndrome Genetic Abnormality DiGeorge syndrome Sporadic 1.5...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
10.55418/9781933477251-4
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
... adrenal insufficiency ( 306 ). PGA type I, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autosomal recessive disorder caused by mutations in the so-called autoimmune regulator (AIRE) gene on chromosome 21q22.3 ( 334 – 336...
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CHRONIC GRANULOMATOUS DISEASE  Lobular disarray and injury with portal and ...
Published: 01 January 2022
CHRONIC GRANULOMATOUS DISEASE Figure 13-10 CHRONIC GRANULOMATOUS DISEASE Lobular disarray and injury with portal and parenchymal chronic inflammation, similar to typical autoimmune hepatitis, in autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy. More about this image found in CHRONIC GRANULOMATOUS DISEASE Lobular disarray and injury with portal and ...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
10.55418/9781933477183-13
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... antibody deficiencies X-linked agammaglobulinemia, common variable immunodeficiency Diseases of immune dysregulation Immune dysregulation, polyendocrinopathy, enteropathy X-lined syndrome (IPEX), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED, APS-1) Defects...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 10
Published: 01 January 2022
10.55418/9781933477183-9
ISBN-10: 1-933477-18-0
ISBN: 978-1-933477-18-3
... disease Usually admixed with glycogenosis, except for type 0 which shows pure steatosis Holoprosencephaly Results from germline hedgehog pathway mutations ( 92 ) Lipodystrophies Most cases show steatohepatitis ( 93 ) Muscular dystrophy Patients can present with fatty liver disease ( 94 , 95...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 7
Published: 01 September 2021
10.55418/9781933477121-1
ISBN-10: 1-933477-12-1
ISBN: 978-1-933477-12-1
... in myotonic dystrophy, Turner syndrome, Gardner syndrome, trisomy 9, and Rubinstein-Taybi syndrome ( 245 ). Microscopic Findings . The tumors are nodular and circumscribed within the dermis, with occasional involvement of subcutaneous adipose tissue ( fig. 1-337 ). They are unilobular or multilobular...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 7
Published: 01 September 2021
10.55418/9781933477121-3
ISBN-10: 1-933477-12-1
ISBN: 978-1-933477-12-1
..., atopic and contact dermatitis, drug reactions, and pityriasis rubra pilaris ( 191 , 192 ). In Sezary syndrome, the erythroderma is associated with intense pruritis. Lymphadenopathy is also present and other common manifestations include hepatosplenomegaly, alopecia, ectropion, and nail dystrophy ( 186...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 6
Published: 01 August 2021
10.55418/9781933477091-ch09
ISBN-10: 1-933477-09-1
ISBN: 978-1-933477-09-1
..., uterine anatomic abnormalities (congenital or iatrogenic), short cervical length or cervical incompetence, and fetal congenital anomalies among these factors ( 7 ). Fetal risk factors of particular note are Ehlers-Danlos syndrome, myotonic dystrophy, Smith-Lemli-Optiz syndrome, and neurofibromatosis...