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Fragile X-Associated Tremor-Ataxia Syndrome

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261. Thymoma and Thymic Carcinoma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

262. Testicular Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

263. Salivary Gland Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

264. Pleuropulmonary Blastoma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

265. Pancreatic Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

266. Oral Complications of Chemotherapy and Head/Neck Radiation

therapy; MASCC/ISOO = Multinational Association of Supportive Care in Cancer/International Society of Oral Oncology; RT = radiation therapy; VAS = visual analog scale. a Pain is common in patients with HNCs and is reported by approximately half of patients before cancer therapy, by 81% during therapy, by 70% at the end of therapy, and by 36% at 6 months posttreatment. Bisphosphonate osteonecrosis [ ] 6.1% for all studies (mean) Studies with documented follow-up = 13.3% Studies with undocumented follow (...) can directly affect patient survivorship. Management of oral complications of cancer therapy includes identification of high-risk populations, patient education, initiation of pretreatment interventions, and timely management of lesions. Assessment of oral status and stabilization of oral disease before cancer therapy are critical to overall patient care. Care should be both preventive and therapeutic to minimize risk for oral and associated systemic complications. Future research targeted

2012 PDQ - NCI's Comprehensive Cancer Database

267. Oral Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

268. Bladder Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

269. Squamous Cell Carcinoma (Skin Cancer), Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

270. Adrenocortical Carcinoma, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

271. Ovarian Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

272. Nuedexta - dextromethorphan hydrobromide / quinidine sulfate

%]), and phenytoin (17 [1.4%]). MAO inhibitors were disallowed as concomitant medications in all of the sponsor’s clinical studies, because of the possibility that they may have produced serotonin syndrome when administered in combination with DM. Nevertheless, a total of 3 subjects received MAO inhibitors during the sponsored clinical trials (protocol violations); all were PBA patients enrolled in Study 02-AVR-107, 2 receiving selegeline, and one receiving phenelzine. No association between the above (...) pharmacodynamics of dextromethorphan hydrobromide (DM) and quinidine sulfate (Q) have been previously evaluated and are well-documented in the literature. There is also extensive clinical experience with DM and Q. Therefore a limited pharmacology package was submitted to support the fixed dose combination, which was acceptable. The etiology of PBA is not completely understood; however, the neurologic insults that are associated with PBA are thought to increase the activity of the excitatory glutamate pathways

2013 European Medicines Agency - EPARs

273. Ovarian Insufficiency (Overview)

, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, et al. Population-based (...) . Autoimmune endocrinopathies in female reproductive dysfunction. Volpe R, ed. Contemporary Endocrinology: Autoimmune Endocrinopathies . Totowa , NJ: Humana Press; 1999. 365-91. Gordon CM, Nelson LM. Amenorrhea and bone health in adolescents and young women. Curr Opin Obstet Gynecol . 2003 Oct. 15(5):377-84. . Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor

2014 eMedicine.com

274. Epilepsy in Children with Mental Retardation (Overview)

[ , ] Height: Short stature may suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal movements, such as dystonia (...) that determines the level of support required. The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID

2014 eMedicine.com

275. Epilepsy in Adults with Mental Retardation (Overview)

[ , ] Height: Short stature may suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal movements, such as dystonia (...) that determines the level of support required. The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID

2014 eMedicine.com

276. Assistive Devices to Improve Independence (Follow-up)

an emergency hospital admission. A cost reduction was also realized compared with general medical care. [ ] Lifestyle factors such as not smoking and engaging in physical activity are associated with longer survival, even after age 75. [ ] For patient education resources, see the and . Also, see , , , , and . Also see , , and . Next: Auditory and Visual Impairments Overview One of the greatest challenges in the geriatric population is their ability to communicate their problems, needs, and desires (...) -related cochlear damage can be surgically treated with bone removal or , respectively. However, gradual decline in hearing acuity, or presbycusis, is due to degeneration of the organ of Corti, and it can simply be a result of aging. Most people acquire a conductive hearing loss with a narrow range of audibility, an inability to hear high-frequency sound, and difficulty in discriminating complex sounds. Hearing deficits are associated with paranoia, and they can also lead to depression, anxiety

2014 eMedicine.com

277. Cancer and Rehabilitation (Overview)

patients how to use prosthetic devices after amputation, as well as instructing the patient on use of other devices and procedures that assist in self-management, self-care abilities, and independent functioning. Other supportive efforts include provision of emotional support associated with adjustment issues while the patient is learning to cope with physical lifestyle changes. Palliative interventions During the palliative phase, when increasing disability and advanced disease process may be present (...) encounter in rehabilitation programs. [ ] They screened 805 patients with cancer, as well as psychological and physical problems. A variety of cancers, including leukemia and cancers of the head and neck, breast, respiratory, nervous system, bladder, and bone, had been diagnosed. More than 50% of patients had problems associated with physical medicine, with a substantial portion having problems similar to those of other patients undergoing rehabilitation. Much of the population had evidence

2014 eMedicine.com

278. Assistive Devices to Improve Independence (Overview)

an emergency hospital admission. A cost reduction was also realized compared with general medical care. [ ] Lifestyle factors such as not smoking and engaging in physical activity are associated with longer survival, even after age 75. [ ] For patient education resources, see the and . Also, see , , , , and . Also see , , and . Next: Auditory and Visual Impairments Overview One of the greatest challenges in the geriatric population is their ability to communicate their problems, needs, and desires (...) -related cochlear damage can be surgically treated with bone removal or , respectively. However, gradual decline in hearing acuity, or presbycusis, is due to degeneration of the organ of Corti, and it can simply be a result of aging. Most people acquire a conductive hearing loss with a narrow range of audibility, an inability to hear high-frequency sound, and difficulty in discriminating complex sounds. Hearing deficits are associated with paranoia, and they can also lead to depression, anxiety

2014 eMedicine.com

279. Disorders of the Breast (Diagnosis)

, and forearms; goiter; lipomas; and uterine leiomyomas. Infiltrating ductal carcinoma of the breast may develop in 30% of these women; one third of these cases are bilateral. [ ] Ataxia-telangiectasia is characterized by multiple telangiectasias, immune dysfunction, sensitivity to ionizing radiation due to chromosomal fragility, and progressive neuromuscular deterioration. Heterozygotic individuals have a fivefold greater risk of developing breast cancer. Mutation Mutations of genes associated (...) are associated with an increased risk for sarcomas, breast cancer, lung cancer, laryngeal cancer, leukemia, and adrenal cortical carcinoma. [ ] The pattern of transmission is autosomal dominant. Breast cancer develops in 77% of women with Li-Fraumeni syndrome between age 22 and 45 years, with 25% developing bilateral disease. Rarely, tumors may develop in the teenaged patient. Cowden disease is characterized by multiple benign keratoses located at the mucocutaneous sites on the face, hands, feet

2014 eMedicine Pediatrics

280. Movement Disorders in Individuals with Developmental Disabilities (Diagnosis)

diagnosed with autism [ , ] Height: Short stature may suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal (...) that determines the level of support required. The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID

2014 eMedicine.com

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