Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies

2021 ◽  
Author(s):  
Gayatri R. Iyer ◽  
Prashant Utage ◽  
Radha Rama Devi ◽  
Kiran Kumar Vattam ◽  
Qurratulain Hasan
Keyword(s):  
Angelman Syndrome ◽  
Molecular Spectrum ◽  
Sequencing Studies

AAC Considerations for Individuals With Angelman Syndrome

2015 ◽  
Vol 24 (3) ◽  
pp. 106-113 ◽  
Author(s):  
Stephen N. Calculator
Keyword(s):  
Angelman Syndrome ◽  
Augmentative And Alternative Communication ◽  
High Tech ◽  
Alternative Communication ◽  
Design And Implementation

Purpose To provide an overview of communication characteristics exhibited by individuals with Angelman Syndrome (AS) and special considerations associated with the design and implementation of augmentative and alternative communication (AAC) programs. Method Results of recent studies exploring individuals' uses of AAC are reviewed, with particular emphasis on factors related to individuals' acceptance and successful uses of AAC systems. Results Not applicable Conclusion Despite their inconsistent access to practices previously found to foster individuals' acceptance of AAC systems, individuals with AS demonstrate the ability to use AAC systems, including high-tech AAC devices, successfully.

Behavioral Intervention to Reduce Sleep Problems in Children With Angelman Syndrome

2013 ◽  
Author(s):  
Keith D. Allen ◽  
Brett R. Kuhn ◽  
Kristi Dehaai ◽  
Dustin P. Wallace
Keyword(s):  
Behavioral Intervention ◽  
Angelman Syndrome ◽  
Sleep Problems

Expanding the clinical and molecular spectrum of ferroportin disease

2017 ◽  
Vol 55 (05) ◽  
pp. e28-e56
Author(s):  
A Viveiros ◽  
B Schäfer ◽  
A Finkenstedt ◽  
B Henninger ◽  
K Nachbaur ◽  
...  
Keyword(s):  
Molecular Spectrum

Clinical features and operative technique of transinfundibular craniopharyngioma

2020 ◽  
Vol 133 (1) ◽  
pp. 119-128 ◽  
Author(s):  
Bin Tang ◽  
ShenHao Xie ◽  
GuanLin Huang ◽  
ZhiGang Wang ◽  
Le Yang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Operative Technique ◽  
Third Ventricle ◽  
Radical Resection ◽  
The Third ◽  
Expanded Endonasal Approach ◽  
Sequencing Studies ◽  
Characteristic Features ◽  
Mri Study ◽  
Adamantinomatous Craniopharyngioma

OBJECTIVETransinfundibular craniopharyngioma (TC) is one of the 4 subtypes of suprasellar craniopharyngioma. In this study, the authors analyzed the clinical features of and operative technique for TC.METHODSA total of 95 consecutive cases of suprasellar craniopharyngioma that had been resected via the endoscopic expanded endonasal approach were retrospectively reviewed. Patients were divided into 2 groups: 34 in the TC group and 61 in the nontransinfundibular craniopharyngioma (NC) group. Clinical and radiographic features, intraoperative findings, histopathological and genetic findings, and surgical outcomes were analyzed and compared between groups.RESULTSCompared with NC, TC was mostly seen in adult patients (97.1%); it was rare in children (2.9%). Clinical presentations tended toward headache, hydrocephalus, and diabetes insipidus. The relatively smaller volume, midline location (consistent with the stalk position), unidentifiable stalk, no shift of the third ventricle, and greater likelihood to involve the third ventricle and cause hydrocephalus were the characteristic features of TC in the preoperative MRI study. According to the degree of vertical extension of the tumor, the 34 TCs could be classified into 3 subtypes: type 1, entity was limited to stalk (n = 2, 5.9%); type 2, tumor extended up to the third ventricle (type 2a) or down to the subdiaphragmatic cavity (type 2b) (n = 23, 67.6%); and type 3, tumor extended in both directions (n = 9, 26.5%). For TC resection, the chiasm–pituitary corridor, lamina terminalis corridor, and pituitary corridor could be used separately or jointly. Most of the TCs originated from the infundibulum–tuber cinereum, grew within and along the long axis of the infundibulum, and the pituitary stalk was not usually preserved in TCs (20.6%), whereas the rate of preservation was higher (80.3%) in NCs. Bilateral hypothalamic injury was found in nearly all TCs if radical resection was performed, whereas the relationship between NCs and hypothalamus was either compression (32.8%) or unilateral invasion (67.2%). Meanwhile, the postoperative endocrine and neuropsychological function outcomes in patients with TC were worse than in patients with NC. The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma.CONCLUSIONSTC is a special subtype of suprasellar craniopharyngioma, which is remarkably different from NC. Identification of this type of tumor preoperatively is essential for the planning of appropriate surgical approach and degree of excision.

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