Cerebral Palsy:Early Markers of Clinical Phenotype and Functional Outcome

The Prechtl General Movement Assessment (GMA) has become a cornerstone assessment in early identification of cerebral palsy (CP), particularly during the fidgety movement period at 3-5 months of age. Additionally, assessment of motor repertoire, such as antigravity movements and postural patterns, which form the Motor Optimality Score (MOS), may provide insight into an infant's later motor function. This study aimed to identify early specific markers for ambulation, gross motor function (using the Gross Motor Function Classification System, GMFCS), topography (unilateral, bilateral), and type (spastic, dyskinetic, ataxic, and hypotonic) of CP in a large worldwide cohort of 468 infants. We found that 95% of children with CP did not have fidgety movements, with 100% having non-optimal MOS. GMFCS level was strongly correlated to MOS. An MOS > 14 was most likely associated with GMFCS outcomes I or II, whereas GMFCS outcomes IV or V were hardly ever associated with an MOS > 8. A number of different movement patterns were associated with more severe functional impairment (GMFCS III-V), including atypical arching and persistent cramped-synchronized movements. Asymmetrical segmental movements were strongly associated with unilateral CP. Circular arm movements were associated with dyskinetic CP. This study demonstrated that use of the MOS contributes to understanding later CP prognosis, including early markers for type and severity

Multi-messenger observations of a binary neutron star merger

On 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of ~1.7 s with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg2 at a luminosity distance of 40+8-8 Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 Mo. An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at ~40 Mpc) less than 11 hours after the merger by the One- Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ~10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position ~9 and ~16 days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta

Multi-messenger Observations of a Binary Neutron Star Merger

On 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of ∼ 1.7 {{s}} with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg2 at a luminosity distance of {40}-8+8 Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 {M}ȯ . An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at ∼ 40 {{Mpc}}) less than 11 hours after the merger by the One-Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ∼10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position ∼ 9 and ∼ 16 days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC 4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta.</p

L'importanza del luogo di lavoro: verso la creazione di una nuova realtà riabilitativa nella prima infanzia

Il luogo di lavoro assume un’importanza fondamentale per il clima aziendale, per il benessere del lavoratore e per la soddisfazione del cliente. Nel caso di strutture ospedaliere, preposte al ricovero e cura di pazienti in età pediatrica come nel caso dell'IRCCS Fondazione Stella Maris (PI), questo è ancora più importante, per accogliere il paziente e la sua famiglia nel migliore dei modi e per dargli i migliori strumenti per interagire con l’ambiente circostante. Con i nostri pazienti, diventa fondamentale ricreare un ambiente che soddisfi le loro esigenze e possibilmente che sia riproducibile anche a casa. In questa ottica, abbiamo sentito l’esigenza di stendere un progetto che apporti delle modifiche al nostro reparto, ed in particolare alla stanza di riabilitazione visiva. Per fare ciò ci siamo ispirati a vari metodi, tra cui il metodo Snoezelen, basato sulla stimolazione sensoriale

Correlation between Early Visual Functions and Cognitive Outcome in Infants at Risk for Cerebral Palsy or Other Neurodevelopmental Disorders: A Systematic Review

Early key visual skills, such as tracking objects, sustaining gaze, and shifting attention, rapidly develop within the first 6 months of infant life. These abilities play a significant role in the development of cognitive functions but are frequently compromised in infants at risk of developing neurodevelopmental disorders. This systematic review evaluates the potential of early vision function in the prediction of cognition at or above 12 months. Five databases were searched for relevant articles, and their quality was assessed with the Quality Assessment of Diagnostic Accuracy Studies tool. Eight studies were suitable, including 521 preterm-born infants at varying risk of developing Cerebral Palsy (CP). Each study showed a significant correlation between vision and cognitive outcome. Predictive analysis including sensitivity and specificity was possible for three studies. Methodological quality was variable. Sensitivity ranged between 57 and 100% in the vision function assessments items, while specificity ranged from 59 to 100%. In conclusion, early vision showed strong correlation with cognition ≥ 12 months. While no single vision assessment was found to be superior, evaluation of specific functions, namely fixation and following, both at term age and between 3 and 6 months, demonstrated strong predictive validity

The Pooled Diagnostic Accuracy of Neuroimaging, General Movements, and Neurological Examination for Diagnosing Cerebral Palsy Early in High-Risk Infants: A Case Control Study

Clinical guidelines recommend using neuroimaging, Prechtls' General Movements Assessment (GMA), and Hammersmith Infant Neurological Examination (HINE) to diagnose cerebral palsy (CP) in infancy. Previous studies provided excellent sensitivity and specificity for each test in isolation, but no study has examined the pooled predictive power for early diagnosis

Correlation of Pre- and Post-radio-chemotherapy MRI Texture Features With Tumor Response in Rectal Cancer

Background/aim: The present study aimed to investigate radiomics features derived from magnetic resonance imaging (MRI) in patients with locally advanced rectal cancer treated with neoadjuvant chemoradiotherapy (CRT). Patients and methods: We retrospectively evaluated data of 53 patients (32 males, 21 females) with T3/T4 or N+ rectal cancer who underwent MRI before and after CRT. Twenty-seven texture radiomics features were extracted from regions of interest, delimiting the tumor on T2-weighted images. Results: All 27 radiomics features extracted before CRT showed a statistically significant association with the tumor regression grade (TRG) (p&lt;0.05), whereas, after CRT, only the Cluster Prominence value was the only variable to predict TRG (p=0.037, r=0.291). Conclusion: All 27 features extracted before CRT were able to predict response to CRT and Cluster Prominence continued to be statistically significant even after CRT. The impact of radiomics features derived from MRI could be further investigated in patients with locally advanced rectal cancer

Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study

Introduction: Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery has been the main treatment option in these patients, but it is burdened with a low efficacy rate and a high incidence of side effects as well as recurrence. In recent years, MEK inhibitors (MEKi) such as selumetinib and trametinib have shown great promise. Methods: We retrospectively describe a single center cohort of NF1 patients affected by PN1 and treated with MEKi since 2019 to 2021. Patients recruited in the study were affected by PN that were not eligible to complete surgical excision, symptomatic or with major cosmetic deformation or functional neurological deficits. Results: Most patients experienced improvement in clinical symptoms and quality of life, with reduction or stabilization of lesions. However, no complete response was achieved. The most common adverse effects involved the skin, affecting every patient. Importantly, no life-threatening adverse effects occurred. Conclusions: In our experience, MEKi treatment has been shown to be both safe and effective in improving symptomatology and quality of life

Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study

Introduction Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery has been the main treatment option in these patients, but it is burdened with a low efficacy rate and a high incidence of side effects as well as recurrence. In recent years, MEK inhibitors (MEKi) such as selumetinib and trametinib have shown great promise. Methods We retrospectively describe a single center cohort of NF1 patients affected by PN1 and treated with MEKi since 2019 to 2021. Patients recruited in the study were affected by PN that were not eligible to complete surgical excision, symptomatic or with major cosmetic deformation or functional neurological deficits. Results Most patients experienced improvement in clinical symptoms and quality of life, with reduction or stabilization of lesions. However, no complete response was achieved. The most common adverse effects involved the skin, affecting every patient. Importantly, no life-threatening adverse effects occurred. Conclusions In our experience, MEKi treatment has been shown to be both safe and effective in improving symptomatology and quality of life

Metabolic control and complications in Italian people with diabetes treated with continuous subcutaneous insulin infusion

The objective of this cross-sectional study was to evaluate the degree of glycaemic control and the frequency of diabetic complications in Italian people with diabetes who were treated with continuous subcutaneous insulin infusion (CSII)