Search results for "pair"
showing 10 items of 2908 documents
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocat…
2006
Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the tr…
Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome
2007
Purpose: We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1). Methods: Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed. Results: Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1. Conclusion: We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.
Relationship Between the Linguistic Environments and Early Bilingual Language Development of Hearing Children in Deaf-parented Families
2013
We explored variation in the linguistic environments of hearing children of Deaf parents and how it was associated with their early bilingual language development. For that purpose we followed up the children's productive vocabulary (measured with the MCDI; MacArthur Communicative Development Inventory) and syntactic complexity (measured with the MLU10; mean length of the 10 longest utterances the child produced during videorecorded play sessions) in both Finnish Sign Language and spoken Finnish between the ages of 12 and 30 months. Additionally, we developed new methodology for describing the linguistic environments of the children (N = 10). Large variation was uncovered in both the amount…
Domain-specific associations between disability and depression, anxiety, and somatization in primary care patients
2018
Abstract This study explores the associations between different disability domains and the most prevalent symptoms of mental disorders in primary care patients (i.e. depression, anxiety, and somatization). A total of 1241 participants from 28 primary care centres completed self-report measures of depression, anxiety, and somatization. This same sample also completed the Sheehan Disability Scale (SDS) to assess functional impairment in work, social life, and family life domains. Associations between the symptoms and each disability domain were examined using hierarchical regression analyses. Depression emerged as the strongest predictor of all three disability domains. Somatization was assoc…
Subjective neurocognition and quality of life in patients with bipolar disorder and siblings.
2018
Abstract Background Bipolar disorder (BD) is associated with significant neurocognitive and functional impairment, which may progress across stages. However, the potential progression of subjective cognitive complaints and quality of life (QoL) has not been addressed. Our main objective was to assess subjective cognitive complaints and QoL on euthymic patients with BD and their healthy siblings. Methods Four groups were compared: euthymic patients with type I BD in the early (n = 25) and late (n = 23) stages, their healthy siblings (latent stage; n = 23) and healthy controls (n = 21). Cognitive complaints and QoL were assessed using the COBRA and WHO-QoLBREF questionnaires, respectively. Re…
New pattern of EGFR amplification in glioblastoma and the relationship of gene copy number with gene expression profile
2010
Gene amplification is a process that is characterized by an increase in the copy number of a restricted region in a chromosome arm, and is frequently associated with an overexpression of the corresponding amplified gene. Amplified DNA can be organized either as extrachromosomal elements, repeated units at a single locus or scattered throughout the genome. The amplification of the gene for epidermal growth factor receptor (EGFR) is a common finding in glioblastomas and the amplified gene copies appears as double minutes. The aim of this study was to investigate the different patterns of EGFR amplification in 40 cases of glioblastoma using FISH analysis in metaphases and paraffin sections, an…
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
1998
Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of b…
An unusual translocation associated with recurrent spontaneous abortions
1989
The authors report a case of 11;17 translocation associated with recurrent spontaneous abortions, and request contact with colleagues who have observed similar cases.
An azoospermic male with reciprocal translocation t(1;15)(q11;p11)
1987
The authors report on a case of 1;15 translocation and request contact with any colleagues who have observed similar cases.
Social cognition dysfunctions in patients with epilepsy: Evidence from patients with temporal lobe and idiopathic generalized epilepsies
2015
Abstract Background and aim Despite an extensive literature on cognitive impairments in focal and generalized epilepsy, only a few number of studies specifically explored social cognition disorders in epilepsy syndromes. The aim of our study was to investigate social cognition abilities in patients with temporal lobe epilepsy (TLE) and in patients with idiopathic generalized epilepsy (IGE). Materials and methods Thirty-nine patients (21 patients with TLE and 18 patients with IGE) and 21 matched healthy controls (HCs) were recruited. All subjects underwent a basic neuropsychological battery plus two experimental tasks evaluating emotion recognition from facial expression (Ekman-60-Faces test…