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Evidence on newborns' discrimination of emotional facial expressions is scarce, and the question of what is the nature of the visual information that newborns rely on to perform such discrimination remains open. Here, we manipulated the spatial frequency (SF) content of the stimuli by selectively removing low spatial frequency (LSF) and high spatial frequency bands using newborn-appropriate cutoffs to investigate what information newborns use when preferring and discriminating between dynamic displays showing happy and fearful expressions unfolding over time. Using a preferential looking paradigm, in Study 1 (N = 63, 59% females, 92% White), we showed that newborns looked longer to happy over fearful expressions in unfiltered (broad spatial frequency) and high-pass (high spatial frequency > 0.6 cycles per degree [cpd]) faces but not in low-pass (LSF < 0.5 cpd) faces. In Study 2 (N = 22, 59% females, 91% White), newborns tested in a visual habituation paradigm showed successful discrimination of the two LSF emotions. Results show that newborns can discriminate between dynamic images of happy and fearful facial expressions containing either extreme low SF (< 0.5 cpd) information or higher SF (> 0.6 cpd) bandwidth. Their preference for the happy expression was present for intact and high-pass filtered faces but not for low-pass faces. This SF effect is tentatively driven by an enhancement of attentional response to the LSF fearful face, whereas the response to the happy face is unaffected by the SF manipulation. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
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Since birth, infants discriminate the biological motion (BM) revealed by point-light displays (PLDs). To date, no studies have explored whether newborns differentiate BM that approaches rather than withdraws from them. Yet, approach and withdrawal are two fundamental motivations in the socio-emotional world, key to developing empathy and prosocial behavior. Through a looking-behavior paradigm, we demonstrated that a few hours after birth, a human figure approaching attracted more visual attention than a human figure receding, showing that newborns are attuned to PLDs of others moving toward rather than walking away from them. Further, a withdrawing body appears to be less attractive than withdrawing scrambled points. Altogether, these observations support the existence of an early predisposition toward social closeness that might have its roots in an evolutionary perspective.
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Emoções , Empatia , Lactente , Humanos , Recém-Nascido , Motivação , Altruísmo , PercepçãoRESUMO
The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the striking features of achondroplasia.
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Acondroplasia , Dor Crônica , Adolescente , Humanos , Criança , Adulto , Qualidade de Vida , Acondroplasia/complicações , Acondroplasia/epidemiologiaRESUMO
Objective: To examine the effect of twin birth on long-term neurodevelopmental outcomes in a cohort of Italian preterm infants with very low birth weight. Study design: We performed a retrospective cohort study on children born in a tertiary care centre. We included children born between 1 January 2007 and 31 December 2013 with a gestational age (GA) of ≤32 weeks and birth weight of <1,500â g. The infants born from twin pregnancies complicated by twin-to-twin transfusion syndrome and from higher-order multiple pregnancies were excluded. The children were evaluated both at 2 years corrected age and 5 years chronological age with Griffiths mental development scales revised (GMDS-R). The linear mixed effects models were used to study the effect of being a twin vs. being a singleton on GMDS-R scores, adjusting for GA, being born small for gestational age, sex, length of NICU stay, socio-economic status, and comorbidity score (CS) calculated as the sum of the weights associated with each of the major morbidities of the infants. Results: A total of 301 children were included in the study, of which 189 (62.8%) were singletons and 112 (37.2%) were twins; 23 out of 112 twins were monochorionic (MC). No statistically significant differences were observed between twins and singletons in terms of mean general quotient and subscales at both 2 and 5 years. No effect of chorionicity was found when comparing scores of MC and dichorionic twins vs. singletons; however, after adjusting for the CS, the MC twins showed lower scores in the hearing and language and performance subscales at 5 years. Conclusion: Overall, in our cohort of children born very preterm, twin infants were not at higher risk of neurodevelopmental impairment compared with singletons at pre-school age.
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The 64k pixel DEPFET module is the key sensitive component of the DEPFET Sensor with Signal Compression (DSSC), a large area 2D hybrid detector for capturing and measuring soft X-rays at the European XFEL. The final 1-megapixel camera has to detect photons with energies between [Formula: see text] and [Formula: see text], and must provide a peak frame rate of [Formula: see text] to cope with the unique bunch structure of the European XFEL. This work summarizes the functionalities and properties of the first modules assembled with full-format CMOS-DEPFET arrays, featuring [Formula: see text] hexagonally-shaped pixels with a side length of 136 µm. The pixel sensors utilize the DEPFET technology to realize an extremely low input capacitance for excellent energy resolution and, at the same time, an intrinsic capability of signal compression without any gain switching. Each pixel of the readout ASIC includes a DEPFET-bias current cancellation circuitry, a trapezoidal-shaping filter, a 9-bit ADC and a 800-word long digital memory. The trimming, calibration and final characterization were performed in a laboratory test-bench at DESY. All detector features are assessed at [Formula: see text]. An outstanding equivalent noise charge of [Formula: see text]e-rms is achieved at 1.1-MHz frame rate and gain of 26.8 Analog-to-Digital Unit per keV ([Formula: see text]). At [Formula: see text] and [Formula: see text], a noise of [Formula: see text] e-rms and a dynamic range of [Formula: see text] are obtained. The highest dynamic range of [Formula: see text] is reached at [Formula: see text] and [Formula: see text]. These values can fulfill the specification of the DSSC project.
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Background and Objectives: Very low birth weight infants (VLBW) are at risk for adverse growth and neurodevelopmental outcomes. We aimed to evaluate the association between growth during Neonatal Intensive Care Unit (NICU) stay and long-term neurodevelopmental outcomes in a cohort of preterm VLBW newborns. Methods: We conducted a longitudinal observational study in the Follow-up Service of our Clinic from January 2014 to April 2017. All preterm VLBW infants born at our hospital and enrolled in our follow-up program were considered eligible for the study. The neurodevelopmental assessment was performed using the Griffiths Mental Development Scales at 12 and 24 months corrected age. Results: Study population included 172 subjects (47.1% males) with a mean gestational age of 29 weeks and a mean birth weight of 1,117â g. A unitarian Δz-score increase in head circumference from birth to discharge was associated with a 1.6-point increase in General Quotient at 24 months corrected age. An association with subscales C and D was also found. Likewise, an increase in length Δz-score was associated with better 24-month subscale C scores although not reaching statistical significance. No relationship with the outcome at 24 months was found for weight gain. Conclusions: Growth during NICU stay appears to be related to a more favorable neurodevelopmental outcome at 24 months corrected age, especially in the hearing and language domain (subscale C). The longitudinal evaluation of auxological parameters during hospitalization can contribute to the identification of subjects at risk for adverse neurodevelopmental outcomes in the first years of life.
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Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital neurodevelopmental disorder (NDD) characterized by distinctive facial anomalies, short stature, developmental delay, hirsutism, gastrointestinal abnormalities and upper limb reduction defects. CdLS syndrome is associated with causative variants in genes encoding for the cohesin complex, a cellular machinery involved in chromatid pairing, DNA repair and gene-expression regulation. In this report, we describe a familial case of a syndromic presentation in a 4-year-old patient (P1) and in his mother (P2). Trio-based Whole Exome Sequencing (WES) performed on P1 was first negative. Since his phenotypic evolution during the follow-up was reminiscent of the CdLS spectrum, a reanalysis of WES data, focused on CdLS-related genes, was requested. Although no alterations in those genes was detected, we identified the likely pathogenetic variant c.40G > A (p.Glu14Lys) in the PHIP gene, in the meanwhile associated with Chung-Jansen syndrome. Reverse phenotyping carried out in both patients confirmed the molecular diagnosis. CHUJANS belongs to NDDs, featuring developmental delay, mild-to-moderate intellectual disability, behavioral problems, obesity and facial dysmorphisms. Moreover, as here described, CHUJANS shows a significant overlap with the CdLS spectrum, with specific regard to facial gestalt. On the basis of our findings, we suggest to include PHIP among genes routinely analyzed in patients belonging to the CdLS spectrum.
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Síndrome de Cornélia de Lange , Deficiência Intelectual , Humanos , Pré-Escolar , Proteínas de Ciclo Celular/genética , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Síndrome de Cornélia de Lange/patologia , Fenótipo , Regulação da Expressão Gênica , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genéticaRESUMO
Coffin-Siris Syndrome (CSS) is a rare multi-system dominant condition with a variable clinical presentation mainly characterized by hypoplasia/aplasia of the nail and/or distal phalanx of the fifth digit, coarse facies, hirsutism/hypertrichosis, developmental delay and intellectual disability of variable degree and growth impairment. Congenital anomalies may include cardiac, genitourinary and central nervous system malformations whereas congenital diaphragmatic hernia (CDH) is rarely reported. The genes usually involved in CSS pathogenesis are ARID1B (most frequently), SMARCA4, SMARCB1, ARID1A, SMARCE1, DPF2, and PHF6. Here, we present two cases of CSS presenting with CDH, for whom Whole Exome Sequencing (WES) identified two distinct de novo heterozygous causative variants, one in ARID1B (case 1) and one in SMARCA4 (case 2). Due to the rarity of CDH in CSS, in both cases the occurrence of CDH did not represent a predictive sign of CSS but, on the other hand, prompted genetic testing before (case 1) or independently (case 2) from the clinical hypothesis of CSS. We provide further evidence of the association between CSS and CDH, reviewed previous cases from literature and discuss possible functional links to related conditions.
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Anormalidades Múltiplas , Deformidades Congênitas da Mão , Hérnias Diafragmáticas Congênitas , Deficiência Intelectual , Micrognatismo , Humanos , Face/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Micrognatismo/diagnóstico , Micrognatismo/genética , Micrognatismo/patologia , Hérnias Diafragmáticas Congênitas/diagnóstico , Hérnias Diafragmáticas Congênitas/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Pescoço/anormalidades , DNA Helicases/genética , Proteínas Nucleares , Fatores de Transcrição/genética , Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA/genéticaRESUMO
Protein arginine methyltransferase 7 (PRMT7) pathogenetic variants have been associated with the human disorder of Short Stature, Brachydactyly, Intellectual Developmental Disability and Seizures syndrome (SBIDDS). Only 15 cases have been described in the literature. Here we report two female dizygotic twins with novel compound heterozygous deleterious variants of PRMT7 and describe the associated endocrine manifestations and short-term response to recombinant growth hormone (rGH) treatment. They were born at 36 + 3 weeks from a dichorionic diamniotic twin pregnancy. Twin A was appropriate for gestational age while Twin B was small for gestational age. Whole exome sequencing analyses showed the same novel compound heterozygous genetic defects in the PRMT7 gene (c.1220 G > A of maternal origin; c.1323 + 2 T > G of paternal origin, Fig. 1). Due to severe short stature and growth impairment, at six years of age, endocrine investigations were performed to rule out growth hormone (GH) deficiency, and revealed GH deficiency (GHD) in Twin A and an appropriate GH response in Twin B. Therefore, both started rGH, albeit at different dosages according to the underlying diagnosis. Both showed a satisfactory short-term response to treatment with height gain (∆HT) of +0.52 SDS (Twin A) and +0.88 SDS (Twin B) during the first year. In conclusion, our findings expand the knowledge about the endocrine manifestations associated with PRMT7 pathogenetic variants, including GH deficiency and rGH response. Further studies are needed to investigate long-term outcomes and establish whether PRMT7 genetic defects can be included among syndromic short stature treatable with rGH.
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Nanismo Hipofisário , Hipopituitarismo , Deficiência Intelectual , Feminino , Humanos , Gravidez , Estatura , Retardo do Crescimento Fetal , Hormônio do Crescimento/genética , Deficiência Intelectual/genética , Mutação , Proteína-Arginina N-Metiltransferases/genéticaRESUMO
Infants born preterm are at high risk of presenting neurodevelopmental delay. The Neurofunctional Assessment (NFA) describes infants' neurodevelopment through the evaluation of six different domains. This study aimed to evaluate how, in a cohort of preterm infants, each NFA domain assessed at 3 months of corrected age (CA) was associated with neurodevelopment at 2 years of CA using the Griffiths Mental Developmental Scales Extended Revised (GMDS-ER). In addition, by introducing the NFA complexity score (CS), the study aimed to define a threshold that can help clinicians discriminate infants at higher risk of later neurodevelopmental delay. We conducted an observational, longitudinal study including 211 preterm infants. At 3 months of CA, infants who had normal scores in each domain showed a significantly higher GMDS-ER global quotient (GQ) at 2 years of CA. In addition, linear model results showed a significant negative relationship between the NFA CS and 2-year GMDS-ER GQ (estimate: - 0.27; 95% CI - 0.35, - 0.20; p value < 0.001). Each 10-point increase in the NFA CS was associated with an average 2.7-point decrease in the GMDS GQ. These results highlight how the NFA domains and NFA CS are compelling instruments for the early identification of children at risk for long-term adverse outcomes.
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Recém-Nascido Prematuro , Projetos de Pesquisa , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Estudos Longitudinais , Parto , GravidezRESUMO
The goal of this study was to examine the effects of preterm birth and maternal childbirth-related posttraumatic stress and parenting stress on maternal mind-mindedness (MM). The study also investigated the effects of perceived social support on parenting stress and MM. Sixty-five preterm (N = 32) and full-term (N = 33) mother-infant dyads were observed at 6 months. Measures of maternal MM were obtained from observations of mother-infant interaction. Mothers also provided ratings of their posttraumatic stress disorder (PTSD) symptoms, parenting stress, and perceived social support via an online survey. Experiencing a preterm birth did not affect mothers' use of mental state descriptors during mother-infant interaction. Neither childbirth-related posttraumatic stress nor parenting stress directly affected maternal ability to comment on the child's mental states appropriately. However, at medium and high levels of perceived social support, a negative association between parenting stress and MM was observed. Maternal perception of being emotionally supported by significant others promoted MM in mothers showing low or mild levels of parenting stress, but not in mothers experiencing high stress in parenting their infants. Results suggest that a proclivity to MM might be affected by the interaction between parenting stress and social support, rather than by childbirth-related variables, such as prematurity.
El propósito de este estudio fue examinar los efectos del nacimiento prematuro y el estrés materno postraumático relacionado con dar a luz, y el estrés de la crianza sobre la disposición de la mente (MM). El estudio también investigó los efectos que la percepción del apoyo social tiene en el estrés de la crianza y la disposición de la mente. Se observaron 65 díadas de madre-infantes prematuros (N = 32) y de gestación completa (N = 33) a los 6 meses. Las medidas de la disposición mental materna se obtuvieron de observaciones de la interacción madre-infante. Las madres también suministraron los puntajes de sus síntomas de PTSD, el estrés de la crianza y la percepción del apoyo social por medio de una encuesta electrónica. El experimentar un nacimiento prematuro no afectó el uso por parte de las madres de los factores de descripción del estado mental durante la interacción madre-infante. Ni el estrés postraumático relacionado con el dar a luz ni el estrés de la crianza directamente afectaron la habilidad materna para comentar de manera apropiada sobre los estados mentales del niño. Sin embargo, al nivel medio y alto de la percepción de apoyo social, se observó una asociación negativa entre el estrés de crianza y la disposición de la mente. La percepción materna de contar con el apoyo emocional de su pareja promovió la disposición mental de las madres que mostraban bajos o leves niveles de estrés de crianza, aunque no así en aquellas madres que experimentaban un nivel alto de estrés en la crianza de sus infantes. Los resultados sugieren que una propensión a la disposición mental pudiera ser afectada por la interacción entre el estrés de crianza y el apoyo social, en vez de las variables relacionadas con el dar a luz, tal como el nacimiento prematuro.
Le but de cette étude était d'examiner les effets du stress posttraumatique lié à la naissance avant terme et à l'accouchement maternel et le stress de parentage sur l'Etat d'esprit/Orientation mentale (abrégé ici EE/OM). L'étude s'est aussi penchée sur les effets du soutien social perçu du stress de parentage et de l'EE/OM maternel. Soixante-cinq dyades mères-bébés nés avant terme (N = 32) et à plein terme (N = 33) ont été observées à 6 mois. Les mesures d'EE/FM maternel ont été obtenues d'observations de l'interaction mère-bébé. Les mères ont aussi offert des évaluations de leurs propres symptômes ESPT, du stress de parentage, et du soutien social perçu au travers d'un questionnaire en ligne. Le fait d'avoir fait l'expérience d'une naissance avant terme n'a pas affecté l'utilisation de descripteurs de santé mentale des mères durant l'interaction mère-bébé. Ni le stress posttraumatique lié à l'accouchement ni le stress de parentage n'ont affecté directement la capacité maternelle à commenter les états mentaux de l'enfant de manière appropriée. Cependant, à des niveaux moyens et élevés de soutien social perçu, une association négative entre le stress de parentage et l'EE/OM a été observée. La perception maternelle d'être soutenue émotionnellement par leurs partenaires a promu l'EE/FM chez les mères faisant preuve de niveaux bas ou peu élevés de stress de parentage, mais pas chez les mères faisant preuve de stress élevé dans le parentage de leurs bébés. Les résultats suggèrent qu'une tendance à l'EE/OM peut être affectée par l'interaction entre le stress de parentage et le soutien social, plutôt que par des variables liées à l'accouchement, comme la prématurité.
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Mães , Nascimento Prematuro , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Relações Mãe-Filho , Poder Familiar , Gravidez , Apoio Social , Estresse PsicológicoRESUMO
Topological states of matter exhibit fascinating physics combined with an intrinsic stability. A key challenge is the fast creation of topological phases, which requires massive reorientation of charge or spin degrees of freedom. Here we report the picosecond emergence of an extended topological phase that comprises many magnetic skyrmions. The nucleation of this phase, followed in real time via single-shot soft X-ray scattering after infrared laser excitation, is mediated by a transient topological fluctuation state. This state is enabled by the presence of a time-reversal symmetry-breaking perpendicular magnetic field and exists for less than 300 ps. Atomistic simulations indicate that the fluctuation state largely reduces the topological energy barrier and thereby enables the observed rapid and homogeneous nucleation of the skyrmion phase. These observations provide fundamental insights into the nature of topological phase transitions, and suggest a path towards ultrafast topological switching in a wide variety of materials through intermediate fluctuating states.
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BACKGROUND: Recent literature has investigated the role of multiple birth on neurodevelopmental outcomes of premature infants, especially extremely preterm ones. Multiple gestations are often associated to increased neurodevelopmental disability. Actually, research findings are controversial. OBJECTIVE: To compare the neurodevelopmental and behavioral outcomes of multiples and singletons in a cohort of preterm infants ≤28 weeks gestational age at 1 and 2 years of corrected age. METHODS: The study included 86 infants, born from January 2014 to September 2017 and enrolled in the follow-up program provided at authors' Institution. Exclusion criteria included: major brain lesions and malformations, severe neuro-sensorial deficits, genetic syndromes, single-twin survivors. Thirty four multiples were compared to 52 singletons, using the Griffiths Mental Development Scales and the Child Behavior Checklist 1½-5. Statistical analysis was based on ANOVA techniques to test group differences. A p < 0.05 was considered statistically significant. RESULTS: The neurodevelopmental outcomes of multiples and singletons at 1 and 2 years of corrected age did not significantly differ at a general level (p > 0.05). Multiples showed significantly lower mean scores than singletons at 1 year in Locomotor (87.15 ± 11.94 vs. 92.48 ± 11.59) and Personal-Social (84.88 ± 10.25 vs. 89.63 ± 8.19) subscales. Considering the behavioral outcomes, higher rates of externalizing problems were observed in multiples at 2 years (54.27 ± 9.64 vs. 49.31 ± 10.39). CONCLUSION: The slightly lower neurodevelopmental outcome showed by multiples, especially in the gross-motor and personal-social domains at 1 year, might be related to the specific environmental condition they experience. Multiple birth may affect mother's sensitivity to infant's needs and infant's acquisition of emotional and behavioral regulation. This affects the separation process and the acquisition of the independent walking and other gross-motor skills. Being multiples might also induce an hyperstimulation and this could explain their higher vulnerability to externalizing problems (impulsiveness, hyperactivity, attention deficits). Additionally, males are more affected by the multiple condition than females.
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The aim of the study was to investigate General Movements'(GMs) neonatal trajectories and their association with neurodevelopment at three months corrected age (CA) in preterm infants. We conducted an observational, longitudinal study in 216 very low birth weight infants. GMs were recorded at 31 ± 1, 35 ± 1, 40 ± 1 weeks of postmenstrual age and at three months of corrected age (CA). More than 90% of infants showing neonatal trajectories with persistent Normal (N-N) or initial Poor Repertoire to Normal (PR-N) movements presented fidgety pattern at three months CA. On the contrary, fidgety movements were not detected in any infant with a trajectory of persistent Cramped-Synchronized (CS-CS) or an initial Poor-Repertoire to Cramped-Synchronized (PR-CS) movements. Trajectories with initial Normal to Poor-Repertoire (N-PR) or persistent Poor-Repertoire (PR-PR) movements showed an increased risk of having a non-normal Fidgety pattern compared with the N-N group (OR = 8.43, 95% CI: 2.26-31.45 and OR = 15.02, 95% CI: 6.40-35.26, respectively). These results highlight the importance to evaluate neonatal GMs' trajectory to predict infants' neurodevelopment. N-N or PR-N trajectories suggest normal short-term neurodevelopment, especially a lower risk of Cerebral Palsy; whereas findings of N-PR and PR-PR trajectories indicate the need for closer follow up to avoid delay in programming intervention strategies.
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Recém-Nascido de muito Baixo Peso/fisiologia , Movimento , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , MasculinoRESUMO
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have been drawn regarding the link between epigenetic defects, twinning process, and gender. Here, we report a comprehensive characterization and follow-up of female MZ twins discordant for BWS. METHODS: Methylation pattern at 11p15.5 and multilocus methylation disturbance (MLID) profiling were performed by pyrosequencing and MassARRAY in placental/umbilical cord samples and postnatal tissues. Whole-exome sequencing was carried out to identify MLID causative mutations. X-chromosome inactivation (XCI) was determined by HUMARA test. RESULTS: Both twins share KCNQ1OT1:TSS-DMR loss of methylation (LOM) and MLID in blood and the epigenetic defect remained stable in the healthy twin over time. KCNQ1OT1:TSS-DMRLOM was nonhomogeneously distributed in placental samples and the twins showed the same severely skewed XCI pattern. No MLID-causative mutations were identified. CONCLUSION: This is the first report on BWS-discordant twins with methylation analyses extended to extraembryonic tissues. The results suggest that caution is required when attempting prenatal diagnosis in similar cases. Although the causative mechanism underlying LOM remains undiscovered, the XCI pattern and mosaic LOM suggest that both twinning and LOM/MLID occurred after XCI commitment.
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Síndrome de Beckwith-Wiedemann/genética , Epigênese Genética , Gêmeos Monozigóticos/genética , Adulto , Síndrome de Beckwith-Wiedemann/patologia , Pré-Escolar , Cromossomos Humanos Par 11/genética , Metilação de DNA , Feminino , Humanos , Canal de Potássio KCNQ1/genética , Canal de Potássio KCNQ1/metabolismo , Placenta/metabolismo , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Sequenciamento do Exoma/métodos , Sequenciamento do Exoma/normas , Inativação do Cromossomo XRESUMO
Infants born preterm are at high risk for the onset of cognitive dysfunctions at school age. The aim of this study was to investigate the association between early neurodevelopmental assessment and the risk of adverse cognitive outcome in extremely low birth weight children. We enrolled all newborns (January 2002 - April 2007) consecutively admitted to our Institution, with a birthweight < 1000 g. Exclusion criteria were genetic abnormalities, severe neurofunctional impairment, and/or neurosensory disabilities. Ninety-nine children were assessed at 1 year of corrected age using the Griffiths Mental Development Scales Revised. The same children were re-assessed at school age through the Wechsler Intelligence Scale for Children. Children with impaired Griffiths General Quotient (i.e., <1 SD) at 1 year of corrected age showed a significantly lower Full Scale Intelligence Quotient at 7 years of chronological age when compared to children who scored in the normal range at 1 year (p < 0.01). Considering the Griffiths Sub-quotients separately, a poor score in the Performance or in the Personal-Social Sub-quotients at 1 year was associated with significantly worse cognitive outcomes both in the Verbal and in the Performance Intelligence Quotients at 7 years (p < 0.01 and p < 0.05, respectively). A score <1 SD in the Locomotor or in the Eye and Hand Coordination Sub-quotients were specifically associated with poorer Performance or Verbal Intelligence Quotients, respectively (p < 0.05). Our findings suggest that a poor score on the Griffiths Scales at 1 year is associated with a higher risk of cognitive impairment at school age. Larger confirmation studies are needed.
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BACKGROUND: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. METHODS: The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. RESULTS: Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. CONCLUSION: Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.
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Avaliação da Deficiência , Intervenção Médica Precoce/métodos , Síndrome de Möbius/diagnóstico , Síndrome de Möbius/terapia , Nervo Abducente/fisiopatologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Nervo Facial/fisiopatologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Testes Neuropsicológicos , Doenças Raras , Medição de Risco , Resultado do TratamentoRESUMO
Depleted field effect transistors (DEPFET) are used to achieve very low noise signal charge readout with sub-electron measurement precision. This is accomplished by repeatedly reading an identical charge, thereby suppressing not only the white serial noise but also the usually constant 1/f noise. The repetitive non-destructive readout (RNDR) DEPFET is an ideal central element for an active pixel sensor (APS) pixel. The theory has been derived thoroughly and results have been verified on RNDR-DEPFET prototypes. A charge measurement precision of 0.18 electrons has been achieved. The device is well-suited for spectroscopic X-ray imaging and for optical photon counting in pixel sensors, even at high photon numbers in the same cell.
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BACKGROUND: Hip dislocation is common in children with cerebral palsy (CP). At birth they do not have musculoskeletal deformities but they develop over time due to the combined effects of the movement disorder and impaired gross motor function. Early detection and treatment of a hip at risk is needed to modify the natural of hip development in CP. AIM: The aim of this study was to determine the effect of postural management treatment on hip displacement's progression in children CP. DESIGN: Prospective comparative non-randomized study. SETTING: Rehabilitative outpatient unit. POPULATION: Fifty-one children with CP were studied; the treated group (N.=30) was compared to a control group (N.=21). METHODS: The treated group followed a two year's long combined treatment program consisting a neurodevelopment treatment (NDT) two times a week and a 5 hours daily siège moulé postural program. The control group underwent only NDT twice a week for two years. Hip radiographs were measured with the migration percentage (MP) method at baseline, at 1 and 2 years of follow-up. RESULTS: A significant difference has been observed in the MP (%) trend (P<0.001) between treatment and control groups. At 2 years, there was a marked worsening (MP from 23.0 to 37.7) in the control group, compared to the stability (from 28.8 to 26.8) in the treatment group. CONCLUSIONS: This study supports the evidence that conservative postural management of hip deformity is useful to prevent the natural progression of hip dislocation. CLINICAL REHABILITATION IMPACT: Hip radiographic follow up program together with NDT and postural management program is useful to modify the natural progression of hip dislocation in children with CP.