Avolition in a patient with hypogonadism

Background and Objectives: Testosterone deficiency has been implicated in the etiology of depression although there is an ongoing debate on the nature of this association. There is a paucity of data about the psychological impact of hypogonadism in genetic disorders associated with testosterone deficiency. Methods:A 57-year-old male is described who was referred for treatment resistant depression. His history showed infertility and lowered testosterone. A selective literature review is given to clarify the patient's clinical condition. Results: Cytogenetic analysis demonstrated a Robertsonian translocation between chromosomes 13 and 14 that accounted for his infertility. The psychopathological picture did not meet the criteria for a major depressive disorder but was characterized by symptoms of apathy or avolition. These symptoms were most probably aggravated by previous long lasting treatment with antidepressants. Conclusions: Testosterone deficiency may be related to motivational deficits that should not be misunderstood for depressive illness. Apathy is probably an underestimated side effect of antidepressants

The adaptive ability performance test (ADAPT): A factor analytic study in clients with intellectual disabilities

Background: The adaptive ability performance test (ADAPT) was developed to assess adaptive skills in individuals with intellectual disabilities and borderline intellectual functioning, with or without mental disorders. As a follow-up to earlier research on the ADAPT, a factor analytic study was conducted. Method: One thousand and sixty six ADAPTs from clients with (suspected) intellectual disabilities or borderline intellectual functioning and 129 ADAPTs from participants from the general population were collected along with other characteristics (e.g., IQ, psychiatric classifications, living situation). Results: An exploratory factor analysis (EFA) was performed and resulted in good fit indices. Subsequent confirmatory factor analysis (CFA) and multigroup CFA showed acceptable to good fit indices. This resulted in an instrument with eight factors and 62 items. Conclusion: Factor analytic results suggest that the ADAPT is a valid instrument that measures adaptive skills in individuals with intellectual disabilities or borderline intellectual functioning

A Multilingual Benchmark to Capture Olfactory Situations over Time

We present a benchmark in six European languages containing manually annotated information about olfactory situations and events following a FrameNet-like approach. The documents selection covers ten domains of interest to cultural historians in the olfactory domain and includes texts published between 1620 to 1920, allowing a diachronic analysis of smell descriptions. With this work, we aim to foster the development of olfactory information extraction approaches as well as the analysis of changes in smell descriptions over time

Reliability of Fetal Sex Determination Using Maternal Plasma

OBJECTIVE: To determine the diagnostic accuracy of noninvasive fetal sex determination in maternal plasma. METHODS: All consecutive patients for whom fetal sex determination in maternal plasma was performed in our laboratory from 2003 up to 2009 were included in the study. Real-time polymerase chain reaction was performed for the SRY gene and multicopy DYS14 marker sequence. A stringent diagnostic algorithm was applied. In the case of a positive result for both Y chromosomespecific assays, a male-bearing pregnancy was reported. In the case of a negative result, the presence of fetal DNA was ascertained through the use of 24 biallelic insertion/deletion polymorphisms or paternally inherited blood group antigens. Only if the presence of fetal DNA was confirmed was a female-bearing pregnancy reported. Results were compared with the pregnancy outcomes. RESULTS: A total of 201 women were tested. The median gestational age was 9 0/7 weeks (interquartile range 8 0/7 to 10 0/7 weeks). In 189 of 201 cases (94%), a test result was issued; in 10 cases, the presence of fetal DNA could not be confirmed; in two cases, an early miscarriage was observed. Pregnancy outcome was obtained in 197 cases, including 105 male-bearing and 81 female-bearing pregnancies and 11 miscarriages. Sensitivity and specificity of the test were 100% (95% confidence intervals 96.6-100% and 95.6-100%, respectively). In all 10 cases in which the presence of fetal DNA Could not be confirmed, a female was born. CONCLUSION: Noninvasive fetal sex determination in maternal plasma is highly reliable and clinically applicabl

The adaptive ability performance test (ADAPT): A factor analytic study in clients with intellectual disabilities

Background: The adaptive ability performance test (ADAPT) was developed to assess adaptive skills in individuals with intellectual disabilities and borderline intellectual functioning, with or without mental disorders. As a follow-up to earlier research on the ADAPT, a factor analytic study was conducted. Method: One thousand and sixty six ADAPTs from clients with (suspected) intellectual disabilities or borderline intellectual functioning and 129 ADAPTs from participants from the general population were collected along with other characteristics (e.g., IQ, psychiatric classifications, living situation). Results: An exploratory factor analysis (EFA) was performed and resulted in good fit indices. Subsequent confirmatory factor analysis (CFA) and multigroup CFA showed acceptable to good fit indices. This resulted in an instrument with eight factors and 62 items. Conclusion: Factor analytic results suggest that the ADAPT is a valid instrument that measures adaptive skills in individuals with intellectual disabilities or borderline intellectual functioning

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer

FBXW7 (alias CDC4) is a p53-dependent tumor suppressor gene that exhibits mutations or deletions in a variety of human tumors. Mutation or deletion of the FBXW7 gene has been associated with an increase in chromosomal instability and cell cycle progression. In addition, the FBXW7 protein has been found to act as a component of the ubiquitin proteasome system and to degrade several oncogenic proteins that function in cellular growth regulatory pathways. By using a rapid breakpoint cloning procedure in a case of renal cell cancer (RCC), we found that the FBXW7 gene was disrupted by a constitutional t(3;4)(q21;q31). Subsequent analysis of the tumor tissue revealed the presence of several anomalies, including loss of the derivative chromosome 3. Upon screening of a cohort of 29 independent primary RCCs, we identified one novel pathogenic mutation, suggesting that the FBXW7 gene may also play a role in the development of sporadic RCCs. In addition, we screened a cohort of 48 unrelated familial RCC cases with unknown etiology. Except for several known or benign sequence variants such as single nucleotide polymorphisms (SNPs), no additional pathogenic variants were found. Previous mouse models have suggested that the FBXW7 gene may play a role in the predisposition to tumor development. Here we report that disruption of this gene may predispose to the development of human RCC.status: publishe