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    Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21

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    We report a rare case of transient abnormal myelopoiesis (TAM) in a phenotypically normal neonate. The presence of a palpable hepatomegaly prompted in-depth laboratory tests, which revealed the presence of severe hyperleukocytosis, with blast cells present in a peripheral blood smear. Although no signs of Down syndrome were present, we suspected TAM. Further analysis identified a mutation in GATA1 along with the unique finding of two different trisomic cell lines, detected upon karyotyping; one with trisomy 21 only, and one with trisomies 21 and 22, which was present in a subpopulation of peripheral blood cells. These genetic abnormalities disappeared by the age of 6 months. The presence of two different trisomic clones may be an evidence of the polyclonal nature of TAM in this patient. © The Japanese Society of Hematology 2014

    The profile of very preterm children on academic achievement. A cross-population comparison with children with specific learning disorders

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    Background: Very preterm (VPT) children showed delays in reading, spelling and maths, but their academic achievement profile is not clearly understood. Aims: VPT children were compared with children with specific learning disorders (SLD) and typically developing (TD) children on academic achievement, considering cognitive and linguistic phenotypic markers. A learning profile analysis was also performed. Methods: We included 170 10-year old monolingual Italian-speaking children (37 VPT, 28 SLD, 105 TD) assessing cognitive, linguistic and academic skills. Results: On academic achievements VPT children fell behind TD peers in some reading (text speed, comprehension), spelling (non-word), and math (number knowledge, written calculations and problem-solving) tasks. SLD children underperformed in all academic tasks with respect to VPT and TD peers. Concerning cognitive and linguistic phenotypic markers, compared to TD peers, VPT children showed lower scores in verbal IQ and phonological fluency, SLD children in phonological processing and rapid automatized naming. VPT children showed a higher rate of at-risk performance in reading compared to TD group, but a minor percentage of impaired profiles and comorbidity among learning areas compared to SLD group. Conclusions and implications: The academic achievement profile of VPT children shows persistent delays, but it differs to that of SLD children, since delays are less widespread and severe, and differences were found in phenotypic markers and comorbidity. Follow-up programs and effective interventions are needed for VPT children

    Noun and predicate comprehension/production and gestures in extremely preterm children at two years of age: Are they delayed?

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    Extremely low gestational age (ELGA, GA. <. 28 weeks) preterm children are at high risk for linguistic impairments; however, their lexical comprehension and production as well as lexical categories in their early language acquisition have not been specifically examined via direct tools. Our study examines lexical comprehension and production as well as gestural production in ELGA children by focusing on noun and predicate acquisition. Forty monolingual ELGA children (mean GA of 26.7 weeks) and 40 full-term (FT) children were assessed at two years of corrected chronological age (CCA) using a test of noun and predicate comprehension and production (PiNG) and the Italian MB-CDI. Noun comprehension and production were delayed in ELGA compared with FT children, as documented by the low number of correct responses and the large number of errors, i.e., incorrect responses and no-response items, and by the types of incorrect responses, i.e., fewer semantically related responses, in noun production. Regarding predicate comprehension and production, a higher frequency of no responses was reported by ELGA children and these children also presented a lower frequency of bimodal spoken-gestural responses in predicate production than FT children. A delayed vocabulary size as demonstrated by the MB-CDI, was exhibited by one-fourth of the ELGA children, who were also unable to complete the predicate subtest. These findings highlight that noun comprehension and production are delayed in ELGA children at two years of CCA and are the most important indexes for the direct evaluation of their lexical abilities and delay. The types of incorrect responses and bimodal spoken-gestural responses were proven to be useful indexes for evaluating the noun and predicate level of acquisition and to plan early focused interventions. Learning outcomes: After reading this manuscript, the reader will understand (a) the differences in noun and predicate comprehension and production between ELGA and FT children and the indexes of lexical delays exhibited by ELGA children at 2;0 (CCA); (b) the relevance of evaluating errors (incorrect response and no response), the types of incorrect responses (semantically related and unrelated) and the modality of the responses (unimodal spoken and bimodal spoken-gestural) in noun and predicate production to understand the difficulties experienced by ELGA children in representing and expressing meanings; and (c) the need to plan specific interventions to support spoken and gestural modalities in lexical comprehension and production in ELGA children by focusing on noun and predicate acquisition

    Object engagement and manipulation in extremely preterm and full term infants at 6 months of age

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    Delays in the motor domain have been frequently observed in preterm children, especially those born at an extremely low gestational age (ELGA; < 28 weeks GA). However, early motor exploration has received relatively little attention despite its relevance for object knowledge and its impact on cognitive and language development. The present study aimed at comparing early object exploration in 20 ELGA and 20 full-term (FT) infants at 6 months of age during a 5-minute mother-infant play interaction. Object engagement (visual vs manual), visual object engagement (no act vs reach), manual object engagement (passive vs active), and active object manipulation (mouthing, transferring, banging, turn/rotating, shaking, fingering) were analyzed. Moreover, the Griffiths Mental Development Scales 0-2 years (1996) were administered to the infants. Relative to FT peers, ELGA infants spent more time in visual engagement, and less time in manual engagement, active manipulation, mouthing, and turning/rotating. Moreover, they had lower scores on general psychomotor development, eye & hand coordination, and performance abilities. Close relationships emerged between manual object engagement and psychomotor development. Clinical implications of these results in terms of early evaluation of action schemes in ELGA infants and the provision of intervention programs for supporting these abilities are discussed

    Linguistic features in children born very preterm at preschool age

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    AIM This cross-sectional study focused on the effect of very preterm (VPT) birth on language development by analysing phonological, lexical, grammatical, and pragmatic skills and assessing the role of cognitive and memory skills. METHOD Sixty children (29 males, 31 females) born VPT (<32wks) aged 5 years were compared with 60 children with typical development. The linguistic assessment was performed by administering a battery of Italian tests for the evaluation of language; cognitive and memory skills were assessed by Raven’s coloured progressive matrices and digit span subtest (Wechsler Intelligence Scale for Children [WISC-III]). RESULTS Children born VPT showed delays in lexical (comprehension: z-score difference 1.18; 95% confidence interval [CI] 1.60 to 0.77; naming: 0.88; 95% CI 1.19 to 0.58) and pragmatic skills (comprehension: 0.76; 95% CI 1.02 to 0.49; narrative production: 0.47; 95% CI 0.72 to 0.23). Delays in phonology and grammar were less diffuse, involving productive skills (1.09; 95% CI 1.64 to 0.54; 0.48; 95% CI 0.85 to 0.12, respectively), and were dependent by cognitive and memory skills. Lexical delays were more specific. INTERPRETATION The linguistic profile of children born preterm is characterized by some abilities more impaired than others. This highlights the need of a linguistic assessment at the end of preschool age in order to plan a focused intervention aimed at improving lexical and pragmatic skill

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed

    Variations on the Author

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    “Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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