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Further analyses in this study investigated potential predictors for the reduction of general psychopathological symptoms. Admission BMI, drug therapies, and eating disorder psychopathology (assessed through EDI-3 and BUT questionnaires) were screened in this phase. Interestingly, baseline BMI was not associated with SCL-90-R discharge scores. By analyzing other possible outcome measures, such as baseline BUT GSI, the use of AAP, and the use of SSRI, we also did not find a correlation with SCL-90-R discharge scores in these variables. We found, nonetheless, statistically significant associations between baseline EDI-3 EDRC scores and discharge SCL-90-R scores. In particular, we highlighted that in our sample the severity of ED psychopathology is a negative predictor of response to treatment. Indeed, the more severe the ED symptoms are, the lower the improvement in SCL-90-R scores is at discharge. Interestingly, Latner et al investigated the association of general psychopathology with objective and subjective bulimic episodes. The authors found that their regression model accounted for 39% of the variance in general psychopathology, as expressed by the Depression Anxiety Stress Scale (DASS). The frequency of objective bulimic episodes and self-induced vomiting was independently associated with general psychopathology [31]. The comprehensive evidence resulting from these data points to the need for specific studies systematically targeting the potential effect of ED psychopathology in influencing general psychopathology in subjects with AN and other FED.
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Xenogene later appeared in an audition episode of The X Factor[7] singing "Thriller". He also appeared in the several episodes of the second season of the same series; in a pool when the Geeks were being cabana boys and in crowd scenes at the Beauty Pageant, Bachelor Auction and Wedding Ceremonies.
The second season began recording on 9 August 2010, with the first episode going to air on 21 October 2010. There were six episodes in total. The first and last ones were one and a half hours instead of just one hour.
The second season of Beauty and the Geek Australia features the same contestant structure as the first season, with one big twist; one of the "Beauties" (Ellie) is actually a twin (Brooke; who also competes). In each challenge only one of the twins was allowed to compete and only that twin can study for that challenge. Also, Xenogene from season 1 was a background "Where's Wally" in at least six episodes. In no apparent order, the contestants for the second season are as follows.
This season's twist had 8 Australian Geeks paired up with 8 Las Vegas Beauties for the initial round in Vegas. Then the 7 teams that survived moved back to the new mansion back in Australia where 7 Australian Beauties are introduced to the Geeks. The Geeks must choose which beauty to progress in the competition with. The first episode aired on 9 October 2014.
Five individuals between the ages of 8 and 21 from three unrelated consanguineous families were found by diagnostic analyses to have a similar constellation of clinical features including dysmorphic facial features, short stature, skeletal and neurological abnormalities, and cataracts (Fig 1, Table 1, S1 Table). The dysmorphic facial features included coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia (S1 Table). Skeletal findings included scoliosis, delayed bone age, diminished ossification of femoral heads, cervical lordosis, shortened fifth digits with mild metaphyseal dysplasia and clinodactyly, as well as dental findings such as broad maxilla incisors, narrow mandible teeth, and enamel defects (Fig 1B and 1C, S1 Table, S1 Fig). Most of the affected individuals exhibited neurological involvement including developmental delay and stroke. This was first seen in individual I-II-2 when she recently started having seizures, with an EEG demonstrating sharp waves in the central areas of the right hemisphere and short sporadic generalized epileptic seizures. Her brain MRI showed a previous stroke in the right corpus striatum (Fig 1E). Hematological studies were normal for hypercoagulability and platelet function (S2 Table). In addition, brain MRI of patient II-II-3 showed multiple small frontal and periventricular lacunar infarcts (S1E Fig). Unclear episodes of syncope also led to neurological investigations including EEG in individual III-II-2, without any signs of epilepsy. Her brain MRI showed symmetrical structures and normal cerebrospinal fluid spaces but pronounced lesions of the white matter (S1E Fig). Other recurrent features included hearing loss, secondary glaucoma, and nephrocalcinosis.
Whole exome sequencing (WES) of two patients from Family I was performed using DNA (1g) extracted from whole blood and fragmented and enriched using the Truseq DNA PCR Free kit (Illumina). Samples were sequenced on a HiSeq2500 (Illumina) with 2x100bp read length and analyzed as described [61]. Raw fastq files were mapped to the reference human genome GRCh37 using BWA [62] (v.0.7.12). Duplicate reads were removed by Picard (v. 1.119) and local realignment and base quality score recalibration was performed following the GATK pipeline [63] (v. 3.3). The average read depth was 98x (I-II-1) and 117x (I-II-2). HaplotypeCaller was used to call SNPs and indels and variants were further annotated with Annovar [64]. Databases used in Annovar were RefSeq [65], Exome Aggregation Consortium (ExAC) [32] (v. exac03), ClinVar [66] (v. clinvar_20150330) and LJB database [67] (v. ljb26_all). Exome variants in Family I were filtered out if they were not homozygous in both affected individuals, had a population allele frequency greater than 0.1% in either the ExAC database [32] or the Greater Middle East Variome Project [68], and were not predicted to be deleterious by either SIFT [69] or Polyphen2 [70]. be457b7860
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