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Deficiency, Mental

MedGen UID:
214593
•Concept ID:
C0917816
•
Mental or Behavioral Dysfunction
Synonyms: Deficiencies, Mental; Mental Deficiencies; Mental Deficiency

Professional guidelines

PubMed

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T, Yoshida R
Pediatr Endocrinol Rev 2005 Jun;2(4):669-74. PMID: 16208280
Screening for neonatal endocrinopathies: rationale, methods and results.
Van Vliet G, Czernichow P
Semin Neonatol 2004 Feb;9(1):75-85. doi: 10.1016/S1084-2756(03)00115-5. PMID: 15013478
Neonatal hypothyroidism: treatment and outcome.
Van Vliet G
Thyroid 1999 Jan;9(1):79-84. doi: 10.1089/thy.1999.9.79. PMID: 10037081

Recent clinical studies

Etiology

Protocol for a 2-year longitudinal study of eating disturbances, mental health problems and overuse injuries in rock climbers (CLIMB).
Edlund K, Nigicser I, Sansone M, Identeg F, Hedelin H, Forsberg N, Tranaeus U
BMJ Open 2023 Sep 13;13(9):e074631. doi: 10.1136/bmjopen-2023-074631. PMID: 37709336Free PMC Article
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation.
Salemi M, Romano C, Ragusa L, Di Vita G, Salluzzo R, Oteri I, Trovato ML, Romano C, Caraci F, Nicoletti F, Bosco P
Genet Test 2007 Summer;11(2):124-7. doi: 10.1089/gte.2006.0510. PMID: 17627381
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
Ogata T, Yoshida R
Pediatr Endocrinol Rev 2005 Jun;2(4):669-74. PMID: 16208280
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.
Abou-Zahr F, Bejjani B, Kruyt FA, Kurg R, Bacino C, Shapira SK, Youssoufian H
Am J Med Genet 1999 Apr 23;83(5):388-91. doi: 10.1002/(sici)1096-8628(19990423)83:5<388::aid-ajmg9>3.0.co;2-1. PMID: 10232749
FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
Hou JW, Wang JK, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1998 Nov-Dec;39(6):398-403. PMID: 9926515

Diagnosis

Heart Failure in Older People Part 1: Disease State Review and Lifestyle Interventions.
Lancaster JW
Sr Care Pharm 2024 Sep 1;39(9):325-332. doi: 10.4140/TCP.n.2024.325. PMID: 39180178
Protocol for a 2-year longitudinal study of eating disturbances, mental health problems and overuse injuries in rock climbers (CLIMB).
Edlund K, Nigicser I, Sansone M, Identeg F, Hedelin H, Forsberg N, Tranaeus U
BMJ Open 2023 Sep 13;13(9):e074631. doi: 10.1136/bmjopen-2023-074631. PMID: 37709336Free PMC Article
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.
Hiejima E, Yasumi T, Nakase H, Matsuura M, Honzawa Y, Higuchi H, Okafuji I, Yorifuji T, Tanaka T, Izawa K, Kawai T, Nishikomori R, Heike T
Medicine (Baltimore) 2017 Nov;96(46):e8601. doi: 10.1097/MD.0000000000008601. PMID: 29145277Free PMC Article
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.
Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F
Am J Med Genet A 2005 Aug 30;137(2):204-7. doi: 10.1002/ajmg.a.30783. PMID: 16059936
Cockayne syndrome.
Levinson ED, Zimmerman AW, Grunnet ML, Lewis RA, Spackman TJ
J Comput Assist Tomogr 1982 Dec;6(6):1172-4. doi: 10.1097/00004728-198212000-00020. PMID: 7174933

Therapy

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.
Hiejima E, Yasumi T, Nakase H, Matsuura M, Honzawa Y, Higuchi H, Okafuji I, Yorifuji T, Tanaka T, Izawa K, Kawai T, Nishikomori R, Heike T
Medicine (Baltimore) 2017 Nov;96(46):e8601. doi: 10.1097/MD.0000000000008601. PMID: 29145277Free PMC Article
Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter.
Ross JB, Allderdice PW, Shapiro LJ, Aveling J, Eales BA, Simms D Jr
Arch Dermatol 1985 Dec;121(12):1524-8. PMID: 3864397

Prognosis

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
Martínez-Muñoz C, Rosenberg EH, Jakobs C, Salomons GS
Gene 2008 Jul 15;418(1-2):53-9. Epub 2008 Apr 15 doi: 10.1016/j.gene.2008.04.003. PMID: 18515020

Clinical prediction guides

Impact of non-cardiovascular comorbidities on the quality of life of patients with chronic heart failure: a scoping review.
Comín-Colet J, Martín Lorenzo T, González-Domínguez A, Oliva J, Jiménez Merino S
Health Qual Life Outcomes 2020 Oct 7;18(1):329. doi: 10.1186/s12955-020-01566-y. PMID: 33028351Free PMC Article
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
Martínez-Muñoz C, Rosenberg EH, Jakobs C, Salomons GS
Gene 2008 Jul 15;418(1-2):53-9. Epub 2008 Apr 15 doi: 10.1016/j.gene.2008.04.003. PMID: 18515020

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