Relationship Between Sensory Processing and Autism Spectrum Disorder-Like Behaviors in Prader-Willi Syndrome.

The relationship between sensory processing and ASD-like and associated behaviors in patients with Prader-Willi Syndrome (PWS) remains relatively unexplored. Examining this relationship, 51 adults with PWS were administered the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), Short Sensory Profile (SSP-J), Food-Related Problem Questionnaire (FRPQ), and Aberrant Behavior Checklist (ABC-J). Based on SSP-J z-scores, participants were classified into three severity groups. Analysis of variance was performed to compare the behavioral scores of these three groups. Statistically significant group differences were observed in PARS (p = .006, ηp2 = .194) and ABC-J (p = .006, ηp2 = .193) scores. Our findings suggest that the level of sensory processing may predict ASD-like and aberrant behaviors in adults with PWS, implying the importance of a proper assessment for early intervention.

Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype.

The effects of age and genotype were examined, with regard to the severity of aberrant, autistic, and food-related behaviors in Prader-Willi syndrome (PWS), with an emphasis on the contrast between adolescents and young adults. The Aberrant Behavior Checklist Japanese version (ABC-J), the Food Related Problem Questionnaire (FRPQ), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 65 PWS patients, including 20 adolescents (ages 12 to 17) and 45 young adults (ages 18 to 29). Significant differences (Mann-Whitney U tests) were found in ABC-J (p = 0.004) and PARS (p = 0.021), with lower scores in adolescents than in young adults. While DEL subgroups showed no significant differences between the two age groups in ABC-J (p = 0.063) and PARS (p = 0.134), mUPD subgroups showed a statistically significant difference in terms of ABC-J (p = 0.007). No significant differences were found between adolescents and young adults, in terms of FRPQ (p = 0.163). These results suggest that aberrant and autistic behaviors follow a marked worsening trend from around the age of 18. On the other hand, food-related behaviors give no sign of change at this transitory stage. Young adults with mUPD were found to be significantly more severe than adolescents with mUPD, in terms of aberrant behaviors.

Ethylene Is Not Responsible for Phytochrome-Mediated Apical Hook Exaggeration in Tomato.

The apical hook of tomato seedlings is exaggerated by phytochrome actions, while in other species such as bean, pea and Arabidopsis, the hook is exaggerated by ethylene and opens by phytochrome actions. The present study was aimed to clarify mainly whether ethylene is responsible for the phytochrome-mediated hook exaggeration of tomato seedlings. Dark-grown 5-day-old seedlings were subjected to various ways of ethylene application in the dark as well as under the actions of red (R) or far-red light (FR). The ethylene emitted by seedlings was also quantified relative to hook exaggeration. The results show: Ambient ethylene, up-to about 1.0 µL L-1, suppressed (opened) the hooks formed in the dark as well as the ones exaggerated by R or FR, while at 3.0-10 µL L-1 it enhanced (closed) the hook only slightly as compared with the most-suppressed level at about 1.0 µL L-1. Treatment with 1-aminocyclopropane-1-carboxylic acid (ACC), the immediate precursor of ethylene biosynthesis, did not enhance the hook, only mimicking the suppressive effects of ambient ethylene. The biosynthesis inhibitor, CoCl2 or aminoethoxyvinylglycine, enhanced hook curvature, and the enhancement was canceled by supplement of ethylene below 1.0 µL L-1. Auxin transport inhibitor, N-1-naphthylphthalamic acid, by contrast, suppressed curvature markedly without altering ethylene emission. The effects of the above-stated treatments did not differentiate qualitatively among the R-, FR-irradiated seedlings and dark control so as to explain phytochrome-mediated hook exaggeration. In addition, ethylene emission by seedlings was affected neither by R nor FR at such fluences as to cause hook exaggeration. In conclusion, (1) ethylene suppresses not only the light-exaggerated hook, but also the dark-formed one; (2) ethylene emission is not affected by R or FR, and also not correlated with the hook exaggerations; thus ethylene is not responsible for the hook exaggeration in tomato; and (3) auxin is essential for the maintenance and development of the hook in tomato as is the case in other species lacking phytochrome-mediated hook exaggeration. A possible mechanism of phytochrome action for hook exaggeration is discussed.

Secondary near-tetraploidy with double der(15)t(15;17) in acute promyelocytic leukemia in relapse.

Tetraploidy or near-tetraploidy is a rare cytogenetic abnormality in acute myelocytic leukemia. We report here a case of acute promyelocytic leukemia that showed near-tetraploidy with double der(15)t(15;17) the leukemia relapsed. At diagnosis, cytogenetic analysis failed to reveal any karyotypic abnormality; however, a promyelocytic leukemia-retinoic acid receptor alpha (PML/RARA) fusion transcript of the bcr3-type was detected with reverse transcriptase-polymerase chain reaction analysis, and a single PML/RARA fusion signal was observed with fluorescence in situ hybridization analysis. At the first relapse, the majority of leukemic cells showed pseudodiploid karyotypes with der(15)t(15;17), as well as additional chromosomal abnormalities, and exhibited a single PML/RARA fusion signal. A small fraction of leukemic cells, however, showed near-tetraploid karyotypes with double der(15)t(15;17), as well as some additional chromosomal abnormalities in common with the pseudodiploid clones, and exhibited double PML/RARA fusion signals. At the second and third relapses, leukemic cells with near-tetraploidy and double PML/RARA fusion signals became predominant. The PML/RARA fusion transcript of the bcr3 type was also observed at each relapse. In addition, Southern blot analysis of the RARA gene at diagnosis and at the second relapse showed a common rearranged band. Notably, giant, bizarre, and hypogranular promyelocytes expressing CD2, CD34, and HLA-DR appeared at the first relapse and became predominant at the second and third relapses. These observations indicate that the APL cells with near-tetraploidy and double der(15)t(15;17) clonally evolved from the pseudodiploid leukemic cells and exhibited the bizarre morphology and aberrant surface immunophenotypes.

Significance of light-induced hook exaggeration as reinforced by the concomitant anatomical change of germinating tomato seeds.

Progression of the apical hook of tomato, Solanum lycopersicum, exaggerated by phytochrome mediation at the early germination stage is followed in detail macroscopically and anatomically, and its proposed significance, i.e. survival by securing the seed coat release in the field, is reinforced by new findings. Furthermore, after self-release or artificial removal of the seed coat and the endosperm, no hook exaggeration occurs any more. Similar light-induced hook exaggeration (LIHE) is also found in carrot, parsley, and Cryptotaenia japonica, which share some seed characteristics with tomato. These findings also support the above-stated significance.