1,447 research outputs found
Therapy-resistant cluster headache in childhood: case report and literature review
No full textThe mean age of onset of cluster headache (CH) is in the late third decade. Only few cases of childhood-onset
(<14 years) CH have been reported in the literature. We report the case of an 11-year-old boy who suffered from
sudden attacks of shock-like, intense pain, localized in the right orbital region, with associated photophobia, phonophobia,
conjunctival injection, lacrimation, nasal congestion, rhinorrhoea and psychomotor agitation. The episodes lasted
60–180 min, and the headache frequency was one to three per day. Physical and neurological examinations, magnetic
resonance imaging and blood examinations were normal. The first bout lasted 8 months. Attacks were resistant to every
symptomatic and partially to prophylactic treatment that has been tried. The second bout lasted approximately
2 months
David Audretsch: A Source of Inspiration, a Co-author, and a Friend
No full textIn this chapter, Enrico Santarelli discusses the profound impact that David had on his career. Beginning with a conference in Budapest, Santarelli and David bocame close friends and colleagues. They went on to collaborate on many papers and projects, several of which Santarelli highlights below
ZC4H2 deletions can cause severe phenotype in female carriers
No full textZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis. She showed a complex neurodevelopmental disorder resembling the clinical picture commonly observed in male patients. X-inactivation was found to be random. Additionally, she had an unusual appearance of fingers and hand creases, and electromyography showed a peculiar pattern of both neurogenic and myopathic anomalies. The present patient confirms that female carriers can also be severely affected. Systematic clinical investigations of both males and females are needed to define the variety in nature and severity of phenotypes related to ZC4H2 variants
Dialogo con Enrico Palandri
No full textA conversation with Enrico Palandri aimed at contextualizing his work as an author
sj-docx-1-mso-10.1177_20552173211059048 - Supplemental material for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire)
No full textSupplemental material, sj-docx-1-mso-10.1177_20552173211059048 for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire) by Silvy Pilotto, Jessica Gencarelli, Stefania Bova, Leonardo Gerosa, Damiano Baroncini, Sara Olivotto, Enrico Alfei, Mauro Zaffaroni, Agnese Suppiej, Eleonora Cocco, Maria Trojano, Maria Pia Amato, Sandra D'Alfonso and
Filippo Martinelli-Boneschi, Emmanuelle Waubant, Angelo Ghezzi, Roberto Bergamaschi, Maura Pugliatti in Multiple Sclerosis Journal – Experimental, Translational and Clinical</p
sj-docx-2-mso-10.1177_20552173211059048 - Supplemental material for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire)
No full textSupplemental material, sj-docx-2-mso-10.1177_20552173211059048 for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire) by Silvy Pilotto, Jessica Gencarelli, Stefania Bova, Leonardo Gerosa, Damiano Baroncini, Sara Olivotto, Enrico Alfei, Mauro Zaffaroni, Agnese Suppiej, Eleonora Cocco, Maria Trojano, Maria Pia Amato, Sandra D'Alfonso and
Filippo Martinelli-Boneschi, Emmanuelle Waubant, Angelo Ghezzi, Roberto Bergamaschi, Maura Pugliatti in Multiple Sclerosis Journal – Experimental, Translational and Clinical</p
Placental histopathological correlates of umbilical artery Doppler velocimetry in pregnancies complicated by fetal growth restriction.
No full textThe objective of the study was to evaluate the association between placental histological patterns and umbilical artery (UA) Doppler velocimetry in pregnancies complicated by fetal growth restriction (FGR).A cohort of 126 FGR pregnancies was followed according to a standard protocol. Placental lesions were diagnosed according to consensus nomenclature and standardized criteria.Pulsatility index was normal in 45 (35.7\%) and increased in 44 (34.9\%) women. End-diastolic UA Doppler flow was absent in 27 (21.4\%) and reversed in 10 (7.9\%). Fifty-four women (42.9\%) had preeclampsia. In preeclampsia, increasing Doppler abnormalities, from normal to reversed UA end-diastolic flow, were directly associated only with an increased number of placental syncytial knots. In normotensive pregnancies, Doppler abnormalities were associated with increased intervillous fibrin deposits, villous hypoplasia, syncytial knots, placental site giant cells, immature intermediate trophoblast, and with pattern of lesions indicating superficial implantation and maternal vascular underperfusion. In the whole cohort, increase of syncytial knots [odds ratio (OR) = 28.7; 95\% confidence interval (CI) = 2.75-298.5], intervillous fibrin deposits (OR = 2.1; 95\% CI = 1.04-4.28), placental site giant cells (OR = 3.0; 95\% CI = 1.05-8.84), and patterns suggesting maternal underperfusion (OR = 2.9; 95\% CI = 1.0-7.1) were independently associated with increased rates of absent/reversed UA end-diastolic flow.In pregnancies complicated by FGR, abnormalities of UA Doppler velocimetry were associated with placental lesions indicating superficial implantation and maternal vascular underperfusion
Frost tolerance of 24 olive cultivars and subsequent vegetative re-sprouting as indication of recovery ability
No full textThe objective of the present study was to assess the frost tolerance of 24 olive cultivars after a freezing
event that occurred in February 2012 in Marche Region (Central Italy), and their recovery ability during
the following growing seasons (2012 and 2013). The studied cultivars were locally, nationally and internationally
spread. Trees were three-year-old and in the rest phase at the time of the freezing event. Frost
tolerance was determined by two damage visual scoring: defoliation and bark split, both defined three
months after the event. During the following growing seasons, the recovery ability of the cultivars was
also assessed throughout a third visual index describing the vegetative re-sprouting. Results indicated
differences in frost tolerance and recovery ability among the studied cultivars. In particular, ‘Arbequina’
recorded the highest canopy defoliation together with ‘FS17’, ‘Raggia’ and ‘Sargano di San Benedetto’,
whereas ‘FS17’, showed the highest level of bark split on primary branches and trunk. This cultivar also
registered a strong vegetative re-sprouting, mainly from the basal portion of the trunk. On the contrary,
‘Ascolana dura’ and ‘Orbetana’ resulted the most frost tolerant cultivars and showed the best recovery
ability in 2012 and 2013, with a re-sprouting activity from the 1- and 2-year-old shoots. The results suggest
low frost tolerance for the tested varieties and supply helpful information for the selection of the
most suitable ones for the set of new olive orchards in cold climates
Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype
No full textGlucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GLUT-1 gene mutation on chromosome 1. The classic phenotype is a
severe form of early onset epileptic encephalopathy, but patient with different clinical presentation have been reported expanding the clinical spectrum. In particular, many patients show a prominent movement disorder other than epilepsy. It is known that this disease
represents a treatable condition and ketogenic diet (KD) is the elective treatment in GLUT-1 DS patients. We report on KD in three unrelated Italian GLUT-1 DS female patients, diagnosed in early adulthood, all presenting with an atypical phenotype. Preliminary results seem to demonstrate efficacy of KD on paroxysmal movement disorder while positive effect on cognitive impairment result less evident
Cognitive, Behavioral and Socioemotional Development in a Cohort of Preterm Infants at School Age: A Cross-Sectional Study
No full text: More than 50% of children who survive prematurity have an atypical course of development at school age, as environmental demands become more demanding. This study examines the effects of preterm birth on the cognitive, behavioral and socioemotional development of 185 children at ages five and seven years. Weaknesses were found in attention, working memory, processing speed and the ability to correctly interpret emotions at both ages five and seven. Significant correlations were found in regression and moderation models. These findings suggest that school-age children who were preterm infants are at increased risk of exhibiting impairments in several developmental domains that may affect their overall quality of life
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