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heritable

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Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 19
Published: 01 February 2024
10.55418/9781933477428-03
ISBN-10: 1-933477-42-3
ISBN: 978-1-933477-42-8
... . J Clin Epidemiol   2002 ; 55 : 1075 - 81 . 4. Wachsmuth   RC , Gaut   RM , Barrett   JH , et al . Heritability and gene-environment interactions for melanocytic nevus density examined in a U.K. adolescent twin study . J Invest Dermatol   2001 ; 117 : 348 - 52 . 5. Lee   S...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 19
Published: 01 February 2024
10.55418/9781933477428-04
ISBN-10: 1-933477-42-3
ISBN: 978-1-933477-42-8
.... Metcalf   JS , Maize   JC . Clark’s nevus . Semin Cutan Med Surg   1999 ; 18 : 43 - 6 . 5. Clark   WH   Jr , Reimer   RR , Greene   M , Ainsworth   AM , Mastrangelo   MJ . Origin of familial malignant melanomas from heritable melanocytic lesions. The “B-K mole syndrome...
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
... heritable implications of these diagnoses. Forensic. Forensic examinations are performed primarily for adjudicating the cause and manner of death. Many forensic autopsies are ultimately deemed to have a cause of death that is cardiovascular in nature. Consequently, thorough and careful cardiac examination...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch31
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
... is seen, as well as medial disorganization ( fig. 31-16 ). Treatment of aneurysms with coil embolization may be attempted ( fig. 31-17 ). Familial thoracic aortic aneurysm and dissection (FTAAD) is a demonstrated heritable aortic aneurysm syndrome, but does not meet defined characteristics...
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
... Proteins. While typically associated with heritable arrhythmia syndromes, ion channel proteins responsible for maintaining ionic gradients within the myocyte have also been implicated in rare cases of DCM. Perhaps not surprisingly, these also have been associated with conduction delay and arrhythmic...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 17
Published: 15 November 2023
10.55418/9781933477299-ch38
ISBN-10: 1-933477-29-6
ISBN: 978-1-933477-29-9
...). Rarely, an interrupted aortic arch, right aortic arch, or aberrant subclavian artery coexist. Extracardiac anomalies are present in 25 percent and occur most often with heritable disorders such as Noonan, Holt-Oram, CHARGE, Turner, Down, and other syndromes. Right Ventricle. It consists of inlet...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 16
Published: 01 August 2023
10.55418/9781933477282-03
ISBN-10: 1-933477-28-8
ISBN: 978-1-933477-28-2
...Until recently, it was accepted that approximately 10 percent of ovarian cancers were heritable, mostly due to BRCA1 or BRCA2 germline mutations. Currently, it is estimated that at least 20 percent of ovarian cancers are due to familial tumor predisposition syndromes, which...
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
... , Brown   MR , Hurley   DL , et al . Heritable disorders of pituitary development . J Clin Endocrinol Metab   1999 ; 84 : 4362 - 70 . 358. Pernasetti   F , Toledo   SP , Vasilyev   VV , et al . Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency...
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
... accounting for about 25 percent of cases ( 19 ). As an underlying genetic abnormality is becoming increasingly evaluated for and identified in multiglandular parathyroid disease, the actual number of truly sporadic cases is likely less than historically reported. Heritable parathyroid hyperplasia can occur...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 13
Published: 01 November 2022
10.55418/9781933477251-3
ISBN-10: 1-933477-25-3
ISBN: 978-1-933477-25-1
...   P , Kunz   EK , Matias-Guiu   X , et al . Analysis of RET proto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas . Cancer   1995 ; 76 : 479 - 89 . 734. Lloyd   RV . RET proto-oncogene mutations and rearrangements in endocrine...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 12
Published: 01 August 2022
10.55418/9781933477220-04
ISBN-10: 1-933477-22-9
ISBN: 978-1-933477-22-0
... factors play a key role in the development of GCNIS and its tumors, there is evidence that genetic factors are important. It has been estimated that 37 percent of the risk for testicular germ cell tumors is represented by genetic effects, ranking testicular cancer 7th of 16 cancer types for heritability...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 8
Published: 01 October 2021
10.55418/9781933477138-15
ISBN-10: 1-933477-13-X
ISBN: 978-1-933477-13-8
... are affected, ranging from 2 months to 78 years; most are younger than 40 years at diagnosis ( 21 , 22 ). The genders are equally affected, and it is nonsyndromic and not a heritable disease. The lesion presents as progressive loss of bone that may cross articulations and does not form a tumoral mass. Standard...
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
... gestation genetics is with women and their female relatives exhibiting heritable and therefore recurrent molar pregnancies. In these kindreds, affected women have autosomal dominant genetic mutations in the KIP57 gene pathway, such that the maternal expression (and therefore inhibition) is lost...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 4
Published: 01 April 2021
10.55418/9781933477930-06
ISBN-10: 1-933477-93-8
ISBN: 978-1-933477-93-0
... diarrhea ( 103 ). Most cases have been reported in older adults from Europe, the United States, and Japan ( 104 ). The etiology of Cronkhite-Canada syndrome is unknown but the disorder is best considered a form of non-heritable inflammatory polyposis; extraintestinal manifestations of disease are mostly...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 4
Published: 01 April 2021
10.55418/9781933477930-08
ISBN-10: 1-933477-93-8
ISBN: 978-1-933477-93-0
... to maternal obesity and heavy smoking, although familial clustering in some cases suggests a heritable component ( 1 , 2 ). Most malformations are accompanied by an imperforate anus, which is generally evident upon physical examination. Patients who are not treated immediately after birth develop intestinal...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 4
Published: 01 April 2021
10.55418/9781933477930-05
ISBN-10: 1-933477-93-8
ISBN: 978-1-933477-93-0
... thyroiditis, Addison disease, diabetes mellitus, hemolytic anemia, mucocutaneous manifestations, and recurrent infections ( 100 ). The classification of autoimmune polyendocrinopathy syndromes is summarized in Table 5-2 . Table 5-2 FEATURES OF HERITABLE AUTOIMMUNE POLYENDOCRINOPATHY SYNDROMES...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 4
Published: 01 April 2021
10.55418/9781933477930-04
ISBN-10: 1-933477-93-8
ISBN: 978-1-933477-93-0
... disease is a heritable malabsorptive disorder resulting from failed development of the small intestinal brush border. Synonyms include Davidson disease, congenital microvillus atrophy, and familial enteropathy. Clinical Features. Patients present with intractable diarrhea...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 4
Published: 01 April 2021
10.55418/9781933477930-03
ISBN-10: 1-933477-93-8
ISBN: 978-1-933477-93-0
... gastric emptying and an elongated, narrow pyloric channel. A mush-room-like deformity may be present when the pylorus bulges into the duodenum ( 15 ). Pathogenesis. The causes of infantile hypertrophic pyloric stenosis are not clear but it likely results from a combination of heritable and environmental...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 4
Published: 01 April 2021
10.55418/9781933477930-02
ISBN-10: 1-933477-93-8
ISBN: 978-1-933477-93-0
... of monitoring eosinophilic esophagitis . Dig Dis   2014 ; 32 : 102 - 6 . 129. Alexander   ES , Martin   LJ , Collins   MH , et al .  Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis . J Allergy Clin Immunol   2014...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 3
Published: 01 February 2021
10.55418/9781933477923-ch09
ISBN-10: 1-933477-92-X
ISBN: 978-1-933477-92-3
... . 13. Squire   J , Gallie   BL , Phillips   RA . A detailed analysis of chromosomal changes in heritable and non-heritable retinoblastoma . Hum Genet   1985 ; 70 : 291 - 301 . 14. Skalet   AH , Gombos   DS , Gallie   BL , et al .  Screening children at risk...