A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report

<p>Abstract</p> <p>Introduction</p> <p>Glycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as gluconeogenesis. Besides hepatomegaly, growth retardation, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia, patients suffer from neutropenia associated with functional defects predisposing for severe infections. In order to attenuate these complications, long-term treatment with granulocyte colony-stimulating factor is common but this is associated with an increased risk for acute myeloid leukemia or myelodysplastic syndromes in patients with inherited bone marrow failures such as severe congenital neutropenia. Onset of these myeloid malignancies is linked to cytogenetic aberrations involving chromosome 7. In addition, granulocyte colony-stimulating factor is known to stimulate proliferation of monosomy 7 cells <it>in vitro</it>. To our knowledge, we report for the first time a case report of a patient with glycogen storage disease type Ib, who developed acute myeloid leukemia with a classical monosomy 7 and acute myeloid leukemia-associated translocation t(3;8)(q26;q24) after 14 years of continuous treatment with granulocyte colony-stimulating factor.</p> <p>Case presentation</p> <p>A 28-year-old Turkish man with glycogen storage disease type Ib was admitted to our department because of dyspnea and increasing fatigue. He also presented with gum bleeding, bone pain in his legs, night sweats, recurrent episodes of fever with temperatures up to 39°C and hepatosplenomegaly.</p> <p>A blood count taken on the day of admission showed pancytopenia and a differential count displayed 30% blasts. A bone marrow biopsy was taken which showed a hypercellular marrow with dysplastic features of all three cell lines, while blast count was 20%. Classical cytogenetic analyses as well as fluorescence in situ hybridization showed a monosomy 7 with a translocation t(3;8)(q26;q24). Based on these findings, the diagnosis of acute myeloid leukemia was made.</p> <p>Conclusion</p> <p>Our observations suggest that bone marrow examinations including cytogenetic analysis should be carried out on a regular basis in patients with glycogen storage disease type Ib who are on long-term treatment with granulocyte colony-stimulating factor for severe neutropenia, since this treatment might also contribute to an increased risk for acute myeloid leukemia or myelodysplastic syndromes.</p

Do red deer stags (Cervus elaphus) use roar fundamental frequency (F0) to assess rivals?

It is well established that in humans, male voices are disproportionately lower pitched than female voices, and recent studies suggest that this dimorphism in fundamental frequency (F0) results from both intrasexual (male competition) and intersexual (female mate choice) selection for lower pitched voices in men. However, comparative investigations indicate that sexual dimorphism in F0 is not universal in terrestrial mammals. In the highly polygynous and sexually dimorphic Scottish red deer Cervus elaphus scoticus, more successful males give sexually-selected calls (roars) with higher minimum F0s, suggesting that high, rather than low F0s advertise quality in this subspecies. While playback experiments demonstrated that oestrous females prefer higher pitched roars, the potential role of roar F0 in male competition remains untested. Here we examined the response of rutting red deer stags to playbacks of re-synthesized male roars with different median F0s. Our results show that stags’ responses (latencies and durations of attention, vocal and approach responses) were not affected by the F0 of the roar. This suggests that intrasexual selection is unlikely to strongly influence the evolution of roar F0 in Scottish red deer stags, and illustrates how the F0 of terrestrial mammal vocal sexual signals may be subject to different selection pressures across species. Further investigations on species characterized by different F0 profiles are needed to provide a comparative background for evolutionary interpretations of sex differences in mammalian vocalizations

How do you say ‘hello’? Personality impressions from brief novel voices

On hearing a novel voice, listeners readily form personality impressions of that speaker. Accurate or not, these impressions are known to affect subsequent interactions; yet the underlying psychological and acoustical bases remain poorly understood. Furthermore, hitherto studies have focussed on extended speech as opposed to analysing the instantaneous impressions we obtain from first experience. In this paper, through a mass online rating experiment, 320 participants rated 64 sub-second vocal utterances of the word ‘hello’ on one of 10 personality traits. We show that: (1) personality judgements of brief utterances from unfamiliar speakers are consistent across listeners; (2) a two-dimensional ‘social voice space’ with axes mapping Valence (Trust, Likeability) and Dominance, each driven by differing combinations of vocal acoustics, adequately summarises ratings in both male and female voices; and (3) a positive combination of Valence and Dominance results in increased perceived male vocal Attractiveness, whereas perceived female vocal Attractiveness is largely controlled by increasing Valence. Results are discussed in relation to the rapid evaluation of personality and, in turn, the intent of others, as being driven by survival mechanisms via approach or avoidance behaviours. These findings provide empirical bases for predicting personality impressions from acoustical analyses of short utterances and for generating desired personality impressions in artificial voices

Talking Less during Social Interactions Predicts Enjoyment: A Mobile Sensing Pilot Study

Can we predict which conversations are enjoyable without hearing the words that are spoken? A total of 36 participants used a mobile app, My Social Ties, which collected data about 473 conversations that the participants engaged in as they went about their daily lives. We tested whether conversational properties (conversation length, rate of turn taking, proportion of speaking time) and acoustical properties (volume, pitch) could predict enjoyment of a conversation. Surprisingly, people enjoyed their conversations more when they spoke a smaller proportion of the time. This pilot study demonstrates how conversational properties of social interactions can predict psychologically meaningful outcomes, such as how much a person enjoys the conversation. It also illustrates how mobile phones can provide a window into everyday social experiences and well-being

Voice-based assessments of trustworthiness, competence, and warmth in blind and sighted adults

The study of voice perception in congenitally blind individuals allows researchers rare insight into how a lifetime of visual deprivation affects the development of voice perception. Previous studies have suggested that blind adults outperform their sighted counterparts in low-level auditory tasks testing spatial localization and pitch discrimination, as well as in verbal speech processing; however, blind persons generally show no advantage in nonverbal voice recognition or discrimination tasks. The present study is the first to examine whether visual experience influences the development of social stereotypes that are formed on the basis of nonverbal vocal characteristics (i.e., voice pitch). Groups of 27 congenitally or early-blind adults and 23 sighted controls assessed the trustworthiness, competence, and warmth of men and women speaking a series of vowels, whose voice pitches had been experimentally raised or lowered. Blind and sighted listeners judged both men’s and women’s voices with lowered pitch as being more competent and trustworthy than voices with raised pitch. In contrast, raised-pitch voices were judged as being warmer than were lowered-pitch voices, but only for women’s voices. Crucially, blind and sighted persons did not differ in their voice-based assessments of competence or warmth, or in their certainty of these assessments, whereas the association between low pitch and trustworthiness in women’s voices was weaker among blind than sighted participants. This latter result suggests that blind persons may rely less heavily on nonverbal cues to trustworthiness compared to sighted persons. Ultimately, our findings suggest that robust perceptual associations that systematically link voice pitch to the social and personal dimensions of a speaker can develop without visual input

The role of plerixafor in optimizing peripheral blood stem cell mobilization for autologous stem cell transplantation.

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Forming social impressions from voices in native and foreign languages

We form very rapid personality impressions about speakers on hearing a single word. This implies that the acoustical properties of the voice (e.g., pitch) are very powerful cues when forming social impressions. Here, we aimed to explore how personality impressions for brief social utterances transfer across languages and whether acoustical properties play a similar role in driving personality impressions. Additionally, we examined whether evaluations are similar in the native and a foreign language of the listener. In two experiments we asked Spanish listeners to evaluate personality traits from different instances of the Spanish word “Hola” (Experiment 1) and the English word “Hello” (Experiment 2), native and foreign language respectively. The results revealed that listeners across languages form very similar personality impressions irrespective of whether the voices belong to the native or the foreign language of the listener. A social voice space was summarized by two main personality traits, one emphasizing valence (e.g., trust) and the other strength (e.g., dominance). Conversely, the acoustical properties that listeners pay attention to when judging other’s personality vary across languages. These results provide evidence that social voice perception contains certain elements invariant across cultures/languages, while others are modulated by the cultural/linguistic background of the listener.This study was funded by the Agencia Estatal de Investigación (AEI, National Research Agency) and Fondo Europeo de Desarrollo Regional (FEDER, European Regional Development Fund) under projects PSI2017- 84539-P and PSI2014-52181-P, the Catalan Government (2017 SGR 268), and the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement no. 613465 - AThEME. CB was supported by the People Program (Marie Curie Actions, FP7-PEOPLE 2014–2016) under REA agreement n°623845 and now is supported by the Beatriu de Pinòs program (AGAUR, BP00381). PB was supported by supported by grant AJE201214 from French Foundation for Medical Research, and grants ANR-16-CONV-0002 (Institute of Language, Communication and the Brain), ANR-11-LABX-0036 (Brain and Language Research Institute) and the Excellence Initiative of Aix-Marseille University (A*MIDEX)

Voice, Sexual Selection, and Reproductive Success .

International audienc