Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at ... more Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at least 10 degrees. It is the most common spinal deformity in children with a prevalence of 2%-3%, and its aetiology is unknown. Genetic factors are known to play a role and a number of linkage analyses showed associations of various loci. Here we describe a new case of a de novo interstitial deletion 8q11.21q11.2 disrupting SNTG1 gene, identified by array-CGH in a girl with cognitive impairment and a scoliosis that 'appears' like to IS. SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin associated protein complex and interacts directly with the C-terminal of dystrophin. Its expression is restricted to neurons and particularly in those areas of the brain that have been suggested to affect postural control. The involvement of SNTG1 gene in IS was already been reported in a family with a breakpoint between exons 10 and 11. Mutational analysis of SNTG1 exons in 152 sp...
To reduce the COVID-19 spread, people have been forced to reduce social interactions and this str... more To reduce the COVID-19 spread, people have been forced to reduce social interactions and this strategy has also been applied to the school world. Italian schools were closed from February to early June 2020 (and, also, thereafter), and distance learning (DL) was adopted to maintain the teaching process. Concerns about consequences for students' learning and affective wellbeing have been risen. In the hypothesis that DL may have influenced students’ learning, we conducted, starting from November 2020 a screening for learning, reading, writing, and calculating skills in children from grade 1st to 3rd grade, to detect any differences between their performance and normative data. Moreover, a survey was carried out on adults (parents and teachers) close to the children involved in the research, to verify whether the experience of the lockdown may have caused emotional and behavioral changes through a questionnaire addressed to parents and teachers. From the analysis of the results, a...
AimTo determine whether isolated low‐grade germinal matrix‐intraventricular haemorrhages (LG‐GMH‐... more AimTo determine whether isolated low‐grade germinal matrix‐intraventricular haemorrhages (LG‐GMH‐IVH) and low‐grade punctate cerebellar haemorrhages (LG‐CBH) contribute to the neurodevelopment of infants born preterm with very low birthweight (VLBW).MethodA prospective observational cohort study was conducted on infants born with VLBW hospitalized from January 2012 to July 2017 who had undergone serial cranial ultrasounds since birth and magnetic resonance susceptibility‐weighted imaging of the brain at term‐corrected age. Only those with VLBW carrying isolated LG‐GMH‐IVH (grades 1 or 2) or isolated LG‐CBH (punctate cerebellar haemorrhages ≤4 mm in diameter) or absence of lesions (no‐lesion) were enrolled and followed up to 3 years. The Griffiths Mental Development Scales, Extended and Revised version (GMDS‐ER), were used to assess neurodevelopment, considering unsatisfactory scores less than 85. Behaviour, according to the criteria of the International Classification of Diseases, 1...
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heteroge... more Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention on SLC4A10, DPP4, and KCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, joint laxity, and dysmorphic features. Only patient 2 showed profound deafness and also carried a heterozygous mutation of the GJB2 gene responsible for autosomal recessive deafness 1A (DFNB1A: OMIM 220290). Could the disruption of a gene present in the 2q24.2q24.3 deleted region be responsible for her profound hearing loss?
Background: We investigated the COVID19-related psychological impact on healthcare workers in Ita... more Background: We investigated the COVID19-related psychological impact on healthcare workers in Italy and in Italian-speaking regions of Switzerland, three weeks after its outbreak. All professional groups of public hospitals in Italy and Switzerland were asked to complete a 38 questions online survey investigating demographic, marital and working status, presence of stress symptoms and need for psychological support. Results: Within 38 h a total of 3,038 responses were collected. The subgroup analysis identified specific categories at risk according to age, type of work and region of origin. Critical care workers, in particular females, reported an increased number of working hours, decline in confidence in the future, presence of stress symptoms and need for psychological support. Respondents reporting stress symptoms and those with children declared a higher need for psychological support. Conclusions: The large number of participants in such a short time indicates for a high interest on topic among health-care workers. The COVID19 outbreak has been experienced as a repeated trauma for many health-care professionals, especially among female nurses' categories. Early evidence of the need of implementating short and long-term measures to mitigate impact of the emotional burden of COVID-19 pandemic are still relevant.
Pediatric and perinatal stroke can present as an early symptom in undiagnosed syndromes character... more Pediatric and perinatal stroke can present as an early symptom in undiagnosed syndromes characterized by simple Mendelian inheritance. In order to diagnose those patients affected with a monogenic disorder in which an arterial cerebrovascular event or arteriopathy may have preceded any other specific symptom, we aimed to establish and validate a targeted gene panel, and to determine its diagnostic yield and clinical utility. To this end, thirty-eight patients were selected with heterogeneous cryptogenic stroke phenotypes, mostly including multiple and recurrent ischemic or hemorrhagic arterial strokes and porencephalies, variably associated with calcifications, intracranial or systemic steno-occlusive arteriopathies, positive family history, and syndromic conditions. Clinical and neuroradiological data were collected for every patient enrolled in the study, and DNA samples were tested by means of a customized gene panel including 15 genes associated with known genetic diseases related to pediatric stroke. In four patients (10.5%) the analyses unraveled pathogenetic variants in ABCC6 and COL4A1 genes, leading to a definite genetic diagnosis with a great beneficial impact on patients management, while results were null in the remaining patients. These findings suggest a high complexity and variability of the included stroke phenotypes, that could not be fully accounted for by the genes tested in the present study. A wider gene panel or an unbiased genomic approach may be better suited and advisable to explain a greater proportion of pediatric and perinatal stroke events.
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and i... more ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain development. In particular, ULK4 encodes serine/threonine kinases that are critical for the development and function of the nervous system, while BRWD3 plays a crucial role in ubiquitination, as part of the ubiquitin/proteasome system. We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting the ULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only the BRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between...
Heterogeneous clinical and neuropsychological features, such as intellectual disability, developm... more Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication syndrome with usually a milder phenotype compared with the corresponding 3q29 microdeletion syndrome. The duplications described so far range from 2.3 Mb to 1.6 Mb, spanning from TFRC to BDH1 genes. Here we report on two patients with overlapping interstitial duplications of the 3q29 region differing in size. Patient 1 harboured a common-seized 3q29 microduplication spanning ∼1.6 Mb, while patient 2 carried a very small 3q29 microduplication of 448.8 Kb encompassing only two genes, DLG1 and BDH1. Both patients presented clinical characteristics similar to those reported in the literature in 3q29 microduplication syndrome. Interestingly, heterotopic gray matter nodules were found along the right lateral ventricle on b...
BACKGROUND AND PURPOSE: Segmental callosal agenesis is characterized by the absence of the interm... more BACKGROUND AND PURPOSE: Segmental callosal agenesis is characterized by the absence of the intermediate callosal portion. We aimed to evaluate the structural connectivity of segmental callosal agenesis by using constrained spherical deconvolution tractography and connectome analysis. MATERIALS AND METHODS: We reviewed the clinical-radiologic features of 8 patients (5 males; mean age, 3.9 years). Spherical deconvolution and probabilistic tractography were performed on diffusion data. Structural connectivity analysis, including summary network metrics, modularity analysis, and network consistency measures, was applied in 5 patients and 10 age-/sex-matched controls. RESULTS: We identified 3 subtypes based on the position of the hippocampal commissure: beneath the anterior callosal remnant in 3 patients (type I), beneath the posterior callosal remnant in 3 patients (type II), and between the anterior and posterior callosal remnants in 2 patients (type III). In all patients, the agenetic segment corresponded to fibers projecting to the parietal lobe, and segmental Probst bundles were found at that level. Ectopic callosal bundles were identified in 3 patients. Topology analysis revealed reduced global connectivity in patients compared with controls. The network topology of segmental callosal agenesis was more variable across patients than that of the control connectomes. Modularity analysis revealed disruption of the structural core organization in the patients. CONCLUSIONS: Three malformative subtypes of segmental callosal agenesis were identified. Even the absence of a small callosal segment may impact global brain connectivity and modularity organization. The presence of ectopic callosal bundles may explain the greater interindividual variation in the connectomes of patients with segmental callosal agenesis. ABBREVIATIONS: ACC ϭ agenesis of the corpus callosum; HC ϭ hippocampal commissure; PVC ϭ partial virtual callosotomy; segACC ϭ segmental agenesis of the corpus callosum S egmental agenesis of the corpus callosum (segACC) is a peculiar form of partial callosal agenesis (ACC) characterized by the absence of the central portion of the corpus callosum with disconnection between the anterior corpus callosum and the splenium. 1,2 On conventional imaging, the anterior and posterior segments appear, respectively, as genual and splenial remnants, while the intermediate segment is a thin lamina, usually corre
To evaluate white matter (WM) microstructural changes in preterm neonates (PN) with mild germinal... more To evaluate white matter (WM) microstructural changes in preterm neonates (PN) with mild germinal matrix-intraventricular haemorrhage (mGMH-IVH) (grades I and II) and no other associated MRI abnormalities, and correlate them with gestational age (GA) and neurodevelopmental outcome. Tract-based spatial-statistics (TBSS) was performed on DTI of 103 patients studied at term-equivalent age, to compare diffusional parameters (fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), axial diffusivity (AD)) between mGMH-IVH neonates (24/103) and controls matched by GA at birth and sex. The relationship between DTI abnormalities, GA and neurodevelopmental outcome assessed with Griffiths' Developmental Scale-Revised:0-2 was explored using TBSS and Spearman-correlation analysis (p < .05). Affected neonates had lower FA, higher RD and MD of the corpus callosum, limbic pathways and cerebellar tracts. Extremely preterm neonates (GA < 29 weeks) presented more severe m...
recurrent cases until date. Conclusion: CVT remains an underinvestigated disease and its aetiolog... more recurrent cases until date. Conclusion: CVT remains an underinvestigated disease and its aetiology is not clearly elucidated. The associated risk factors in our lot of patients are similar to those mentioned in the literature. Early recognition of clinical signs, considering the CVT as a possible diagnosis and appropriate management can lead to a good outcome in pediatric patients.
Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations... more Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations of ACVR1/ALK2 causing progressive heterotopic endochondral ossifications. Evidence of central nervous system involvement has emerged only recently. We performed an observational cross-sectional brain MRI study in 13 patients (8 females, mean age 20 years), examining the relationship of clinical and neuroradiological findings. All patients presented small asymptomatic lesions similar to hamartomas at the level of the dorsal medulla and ventral pons, associated with minor brainstem dysmorphisms and abnormal origin of the vestibulocochlear and facial nerves. The size of the brainstem lesions did not correlate with patient's age (p=0.061), age at first flare-up (p=0.733), severity of disability (p=0.194), history of head trauma (p=0.415) or hearing loss (p=0.237). The radiologic features and the absence of neurological symptoms were consistent with a benign process. Variable signal abno...
Extremely preterm babies are at major risk for adverse neurodevelopmental outcome, being the gest... more Extremely preterm babies are at major risk for adverse neurodevelopmental outcome, being the gestational age (GA) the main determinant for a good-quality survival. Aim of this retrospective study was to investigate the neurodevelopmental outcome in a population of extremely preterm babies admitted to a single neonatal tertiary care unit over an 8-year period. All babies born between 23<sup>+0</sup> and 25<sup>+6</sup> weeks of GA from January 2003 until December 2010 were retrospectively enrolled. Perinatal and neonatal variables were recorded. Motor and cognitive development was assessed using the neurofunctional scale (NFS) and the Griffith’s scales at 2 years. Fifty-five out of 122 infants survived to discharge. Survival rates doubled for each additional gestational week from 23 to 25: 16%, 38% and 74% at 23, 24 and 25 weeks GA respectively. Forty-six infants were evaluated at 2 years. A poor cognitive and motor outcome was observed in all babies born at 2...
Breast milk has always been the best source of nourishment for newborns. However, breast milk can... more Breast milk has always been the best source of nourishment for newborns. However, breast milk can carry a risk of infection, as it can be contaminated with bacterial or viral pathogens. This paper reviews the risk of acquisition of varicella-zoster virus (VZV) and cytomegalovirus (CMV), herpesviruses frequently detected in breastfeeding mothers, via breast milk, focusing on the clinical consequences of this transmission and the possible strategies for preventing it. Maternal VZV infections are conditions during which breastfeeding may be temporarily contraindicated, but expressed breast milk should always be given to the infant. CMV infection acquired through breast milk rarely causes disease in healthy term newborns; an increased risk of CMV disease has been documented in preterm infants. However, the American Academy of Pediatrics (AAP) does not regard maternal CMV seropositivity as a contraindication to breastfeeding; according to the AAP, in newborns weighing less than 1500 g, the decision should be taken after weighing the benefits of breast milk against the risk of transmission of infection. The real efficacy of the different methods of inactivating CMV in breast milk should be compared in controlled clinical trials, rigorously examining the negative consequences that each of these methods can have on the immunological and nutritional properties of the milk itself, with a view to establish the best risk-benefit ratio of these strategies before they are recommended for use in clinical practice. Introduzione Il latte materno rappresenta da sempre il migliore alimento per il neonato, in quanto, come ben noto, è in grado di soddisfare tutti i bisogni necessari per una crescita ottimale e un normale sviluppo. E' bilanciato dal punto di vista nutrizionale, aumenta le difese grazie al suo contenuto in anticorpi e altri preziosi elementi del sistema
Outbreaks of nosocomial pathogens are one of the most relevant problems in Neonatal Intensive Car... more Outbreaks of nosocomial pathogens are one of the most relevant problems in Neonatal Intensive Care Unit (NICU). Many factors contribute to the onset of an epidemic, including virulence of the pathogen and vulnerability of the infants hospitalized in NICU. Outbreaks are often caused by multidrug-resistant organisms (MDROs). MDROs are defined as microorganisms, predominantly bacteria, that are resistant to one or more classes of antimicrobial agents. MDROs, including methicillin-resistant Staphylococcus aureus (MRSA), vancomycin-resistant enterococci (VRE) and certain gram-negative bacilli (GNB), have important infection control implications. Once MDROs are introduced into a healthcare setting, transmission and persistence of the resistant strain is determined by the availability of vulnerable patients, selective pressure exerted by antimicrobial use, increased potential for transmission from larger numbers of infected or colonized patients ("colonization pressure"), and the impact of adherence to prevention efforts. Often, routine infection control measures are not enough to contain outbreaks, and additional control measures are needed, including implementation of hand hygiene, cohorting of infected/colonized infants, neonatal surveillance cultures, screening of healthcare workers and decolonization of neonates and/or healthcare workers in selected cases. In this review, we report the practices we developed in our NICU to contain an epidemic. These recommendations reflect the experience of the group, as well as the findings of the current literature. Introduzione Un'epidemia è generalmente definita in termini probabilistici come "un aumento statisticamente significativo della frequenza di una infezione rispetto alla frequenza della stessa infezione osservata pre
Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at ... more Idiopathic scoliosis (IS) is an abnormality of the vertebral column with a spine curvature of at least 10 degrees. It is the most common spinal deformity in children with a prevalence of 2%-3%, and its aetiology is unknown. Genetic factors are known to play a role and a number of linkage analyses showed associations of various loci. Here we describe a new case of a de novo interstitial deletion 8q11.21q11.2 disrupting SNTG1 gene, identified by array-CGH in a girl with cognitive impairment and a scoliosis that 'appears' like to IS. SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin associated protein complex and interacts directly with the C-terminal of dystrophin. Its expression is restricted to neurons and particularly in those areas of the brain that have been suggested to affect postural control. The involvement of SNTG1 gene in IS was already been reported in a family with a breakpoint between exons 10 and 11. Mutational analysis of SNTG1 exons in 152 sp...
To reduce the COVID-19 spread, people have been forced to reduce social interactions and this str... more To reduce the COVID-19 spread, people have been forced to reduce social interactions and this strategy has also been applied to the school world. Italian schools were closed from February to early June 2020 (and, also, thereafter), and distance learning (DL) was adopted to maintain the teaching process. Concerns about consequences for students' learning and affective wellbeing have been risen. In the hypothesis that DL may have influenced students’ learning, we conducted, starting from November 2020 a screening for learning, reading, writing, and calculating skills in children from grade 1st to 3rd grade, to detect any differences between their performance and normative data. Moreover, a survey was carried out on adults (parents and teachers) close to the children involved in the research, to verify whether the experience of the lockdown may have caused emotional and behavioral changes through a questionnaire addressed to parents and teachers. From the analysis of the results, a...
AimTo determine whether isolated low‐grade germinal matrix‐intraventricular haemorrhages (LG‐GMH‐... more AimTo determine whether isolated low‐grade germinal matrix‐intraventricular haemorrhages (LG‐GMH‐IVH) and low‐grade punctate cerebellar haemorrhages (LG‐CBH) contribute to the neurodevelopment of infants born preterm with very low birthweight (VLBW).MethodA prospective observational cohort study was conducted on infants born with VLBW hospitalized from January 2012 to July 2017 who had undergone serial cranial ultrasounds since birth and magnetic resonance susceptibility‐weighted imaging of the brain at term‐corrected age. Only those with VLBW carrying isolated LG‐GMH‐IVH (grades 1 or 2) or isolated LG‐CBH (punctate cerebellar haemorrhages ≤4 mm in diameter) or absence of lesions (no‐lesion) were enrolled and followed up to 3 years. The Griffiths Mental Development Scales, Extended and Revised version (GMDS‐ER), were used to assess neurodevelopment, considering unsatisfactory scores less than 85. Behaviour, according to the criteria of the International Classification of Diseases, 1...
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heteroge... more Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention on SLC4A10, DPP4, and KCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, joint laxity, and dysmorphic features. Only patient 2 showed profound deafness and also carried a heterozygous mutation of the GJB2 gene responsible for autosomal recessive deafness 1A (DFNB1A: OMIM 220290). Could the disruption of a gene present in the 2q24.2q24.3 deleted region be responsible for her profound hearing loss?
Background: We investigated the COVID19-related psychological impact on healthcare workers in Ita... more Background: We investigated the COVID19-related psychological impact on healthcare workers in Italy and in Italian-speaking regions of Switzerland, three weeks after its outbreak. All professional groups of public hospitals in Italy and Switzerland were asked to complete a 38 questions online survey investigating demographic, marital and working status, presence of stress symptoms and need for psychological support. Results: Within 38 h a total of 3,038 responses were collected. The subgroup analysis identified specific categories at risk according to age, type of work and region of origin. Critical care workers, in particular females, reported an increased number of working hours, decline in confidence in the future, presence of stress symptoms and need for psychological support. Respondents reporting stress symptoms and those with children declared a higher need for psychological support. Conclusions: The large number of participants in such a short time indicates for a high interest on topic among health-care workers. The COVID19 outbreak has been experienced as a repeated trauma for many health-care professionals, especially among female nurses' categories. Early evidence of the need of implementating short and long-term measures to mitigate impact of the emotional burden of COVID-19 pandemic are still relevant.
Pediatric and perinatal stroke can present as an early symptom in undiagnosed syndromes character... more Pediatric and perinatal stroke can present as an early symptom in undiagnosed syndromes characterized by simple Mendelian inheritance. In order to diagnose those patients affected with a monogenic disorder in which an arterial cerebrovascular event or arteriopathy may have preceded any other specific symptom, we aimed to establish and validate a targeted gene panel, and to determine its diagnostic yield and clinical utility. To this end, thirty-eight patients were selected with heterogeneous cryptogenic stroke phenotypes, mostly including multiple and recurrent ischemic or hemorrhagic arterial strokes and porencephalies, variably associated with calcifications, intracranial or systemic steno-occlusive arteriopathies, positive family history, and syndromic conditions. Clinical and neuroradiological data were collected for every patient enrolled in the study, and DNA samples were tested by means of a customized gene panel including 15 genes associated with known genetic diseases related to pediatric stroke. In four patients (10.5%) the analyses unraveled pathogenetic variants in ABCC6 and COL4A1 genes, leading to a definite genetic diagnosis with a great beneficial impact on patients management, while results were null in the remaining patients. These findings suggest a high complexity and variability of the included stroke phenotypes, that could not be fully accounted for by the genes tested in the present study. A wider gene panel or an unbiased genomic approach may be better suited and advisable to explain a greater proportion of pediatric and perinatal stroke events.
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and i... more ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain development. In particular, ULK4 encodes serine/threonine kinases that are critical for the development and function of the nervous system, while BRWD3 plays a crucial role in ubiquitination, as part of the ubiquitin/proteasome system. We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity. Array-CGH analysis demonstrated 2 rare CNVs in both siblings: a paternally inherited microdeletion of ∼145 kb at 3p22.1, disrupting the ULK4 gene, and a maternally inherited microduplication of ∼117 kb at Xq21.1 including only the BRWD3 gene. As already described for other recurrent syndromes with variable phenotype, these findings are challenging in genetic counseling because of an evident variable penetrance. We discuss the possible correlations between...
Heterogeneous clinical and neuropsychological features, such as intellectual disability, developm... more Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication syndrome with usually a milder phenotype compared with the corresponding 3q29 microdeletion syndrome. The duplications described so far range from 2.3 Mb to 1.6 Mb, spanning from TFRC to BDH1 genes. Here we report on two patients with overlapping interstitial duplications of the 3q29 region differing in size. Patient 1 harboured a common-seized 3q29 microduplication spanning ∼1.6 Mb, while patient 2 carried a very small 3q29 microduplication of 448.8 Kb encompassing only two genes, DLG1 and BDH1. Both patients presented clinical characteristics similar to those reported in the literature in 3q29 microduplication syndrome. Interestingly, heterotopic gray matter nodules were found along the right lateral ventricle on b...
BACKGROUND AND PURPOSE: Segmental callosal agenesis is characterized by the absence of the interm... more BACKGROUND AND PURPOSE: Segmental callosal agenesis is characterized by the absence of the intermediate callosal portion. We aimed to evaluate the structural connectivity of segmental callosal agenesis by using constrained spherical deconvolution tractography and connectome analysis. MATERIALS AND METHODS: We reviewed the clinical-radiologic features of 8 patients (5 males; mean age, 3.9 years). Spherical deconvolution and probabilistic tractography were performed on diffusion data. Structural connectivity analysis, including summary network metrics, modularity analysis, and network consistency measures, was applied in 5 patients and 10 age-/sex-matched controls. RESULTS: We identified 3 subtypes based on the position of the hippocampal commissure: beneath the anterior callosal remnant in 3 patients (type I), beneath the posterior callosal remnant in 3 patients (type II), and between the anterior and posterior callosal remnants in 2 patients (type III). In all patients, the agenetic segment corresponded to fibers projecting to the parietal lobe, and segmental Probst bundles were found at that level. Ectopic callosal bundles were identified in 3 patients. Topology analysis revealed reduced global connectivity in patients compared with controls. The network topology of segmental callosal agenesis was more variable across patients than that of the control connectomes. Modularity analysis revealed disruption of the structural core organization in the patients. CONCLUSIONS: Three malformative subtypes of segmental callosal agenesis were identified. Even the absence of a small callosal segment may impact global brain connectivity and modularity organization. The presence of ectopic callosal bundles may explain the greater interindividual variation in the connectomes of patients with segmental callosal agenesis. ABBREVIATIONS: ACC ϭ agenesis of the corpus callosum; HC ϭ hippocampal commissure; PVC ϭ partial virtual callosotomy; segACC ϭ segmental agenesis of the corpus callosum S egmental agenesis of the corpus callosum (segACC) is a peculiar form of partial callosal agenesis (ACC) characterized by the absence of the central portion of the corpus callosum with disconnection between the anterior corpus callosum and the splenium. 1,2 On conventional imaging, the anterior and posterior segments appear, respectively, as genual and splenial remnants, while the intermediate segment is a thin lamina, usually corre
To evaluate white matter (WM) microstructural changes in preterm neonates (PN) with mild germinal... more To evaluate white matter (WM) microstructural changes in preterm neonates (PN) with mild germinal matrix-intraventricular haemorrhage (mGMH-IVH) (grades I and II) and no other associated MRI abnormalities, and correlate them with gestational age (GA) and neurodevelopmental outcome. Tract-based spatial-statistics (TBSS) was performed on DTI of 103 patients studied at term-equivalent age, to compare diffusional parameters (fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), axial diffusivity (AD)) between mGMH-IVH neonates (24/103) and controls matched by GA at birth and sex. The relationship between DTI abnormalities, GA and neurodevelopmental outcome assessed with Griffiths' Developmental Scale-Revised:0-2 was explored using TBSS and Spearman-correlation analysis (p < .05). Affected neonates had lower FA, higher RD and MD of the corpus callosum, limbic pathways and cerebellar tracts. Extremely preterm neonates (GA < 29 weeks) presented more severe m...
recurrent cases until date. Conclusion: CVT remains an underinvestigated disease and its aetiolog... more recurrent cases until date. Conclusion: CVT remains an underinvestigated disease and its aetiology is not clearly elucidated. The associated risk factors in our lot of patients are similar to those mentioned in the literature. Early recognition of clinical signs, considering the CVT as a possible diagnosis and appropriate management can lead to a good outcome in pediatric patients.
Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations... more Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations of ACVR1/ALK2 causing progressive heterotopic endochondral ossifications. Evidence of central nervous system involvement has emerged only recently. We performed an observational cross-sectional brain MRI study in 13 patients (8 females, mean age 20 years), examining the relationship of clinical and neuroradiological findings. All patients presented small asymptomatic lesions similar to hamartomas at the level of the dorsal medulla and ventral pons, associated with minor brainstem dysmorphisms and abnormal origin of the vestibulocochlear and facial nerves. The size of the brainstem lesions did not correlate with patient's age (p=0.061), age at first flare-up (p=0.733), severity of disability (p=0.194), history of head trauma (p=0.415) or hearing loss (p=0.237). The radiologic features and the absence of neurological symptoms were consistent with a benign process. Variable signal abno...
Extremely preterm babies are at major risk for adverse neurodevelopmental outcome, being the gest... more Extremely preterm babies are at major risk for adverse neurodevelopmental outcome, being the gestational age (GA) the main determinant for a good-quality survival. Aim of this retrospective study was to investigate the neurodevelopmental outcome in a population of extremely preterm babies admitted to a single neonatal tertiary care unit over an 8-year period. All babies born between 23<sup>+0</sup> and 25<sup>+6</sup> weeks of GA from January 2003 until December 2010 were retrospectively enrolled. Perinatal and neonatal variables were recorded. Motor and cognitive development was assessed using the neurofunctional scale (NFS) and the Griffith’s scales at 2 years. Fifty-five out of 122 infants survived to discharge. Survival rates doubled for each additional gestational week from 23 to 25: 16%, 38% and 74% at 23, 24 and 25 weeks GA respectively. Forty-six infants were evaluated at 2 years. A poor cognitive and motor outcome was observed in all babies born at 2...
Breast milk has always been the best source of nourishment for newborns. However, breast milk can... more Breast milk has always been the best source of nourishment for newborns. However, breast milk can carry a risk of infection, as it can be contaminated with bacterial or viral pathogens. This paper reviews the risk of acquisition of varicella-zoster virus (VZV) and cytomegalovirus (CMV), herpesviruses frequently detected in breastfeeding mothers, via breast milk, focusing on the clinical consequences of this transmission and the possible strategies for preventing it. Maternal VZV infections are conditions during which breastfeeding may be temporarily contraindicated, but expressed breast milk should always be given to the infant. CMV infection acquired through breast milk rarely causes disease in healthy term newborns; an increased risk of CMV disease has been documented in preterm infants. However, the American Academy of Pediatrics (AAP) does not regard maternal CMV seropositivity as a contraindication to breastfeeding; according to the AAP, in newborns weighing less than 1500 g, the decision should be taken after weighing the benefits of breast milk against the risk of transmission of infection. The real efficacy of the different methods of inactivating CMV in breast milk should be compared in controlled clinical trials, rigorously examining the negative consequences that each of these methods can have on the immunological and nutritional properties of the milk itself, with a view to establish the best risk-benefit ratio of these strategies before they are recommended for use in clinical practice. Introduzione Il latte materno rappresenta da sempre il migliore alimento per il neonato, in quanto, come ben noto, è in grado di soddisfare tutti i bisogni necessari per una crescita ottimale e un normale sviluppo. E' bilanciato dal punto di vista nutrizionale, aumenta le difese grazie al suo contenuto in anticorpi e altri preziosi elementi del sistema
Outbreaks of nosocomial pathogens are one of the most relevant problems in Neonatal Intensive Car... more Outbreaks of nosocomial pathogens are one of the most relevant problems in Neonatal Intensive Care Unit (NICU). Many factors contribute to the onset of an epidemic, including virulence of the pathogen and vulnerability of the infants hospitalized in NICU. Outbreaks are often caused by multidrug-resistant organisms (MDROs). MDROs are defined as microorganisms, predominantly bacteria, that are resistant to one or more classes of antimicrobial agents. MDROs, including methicillin-resistant Staphylococcus aureus (MRSA), vancomycin-resistant enterococci (VRE) and certain gram-negative bacilli (GNB), have important infection control implications. Once MDROs are introduced into a healthcare setting, transmission and persistence of the resistant strain is determined by the availability of vulnerable patients, selective pressure exerted by antimicrobial use, increased potential for transmission from larger numbers of infected or colonized patients ("colonization pressure"), and the impact of adherence to prevention efforts. Often, routine infection control measures are not enough to contain outbreaks, and additional control measures are needed, including implementation of hand hygiene, cohorting of infected/colonized infants, neonatal surveillance cultures, screening of healthcare workers and decolonization of neonates and/or healthcare workers in selected cases. In this review, we report the practices we developed in our NICU to contain an epidemic. These recommendations reflect the experience of the group, as well as the findings of the current literature. Introduzione Un'epidemia è generalmente definita in termini probabilistici come "un aumento statisticamente significativo della frequenza di una infezione rispetto alla frequenza della stessa infezione osservata pre
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Papers by Sara Uccella