Search results for "Croce"
showing 10 items of 170 documents
Total retinal detachment caused by a KIF11 mutation.
2017
Purpose This is a case report of bilateral retinal detachment associated with KIF11 mutation. Methods In our university hospital, an 8-week-old patient presented with a potential bilateral congenital cataract, iris atrophy, and iridocorneal contact in the left eye. An examination revealed microcephaly and edema of the dorsa of the feet. The eye examination showed a clear lens in both eyes with a dislodged anterior chamber in the left eye with vessels drawn from the iris to the lens. A retrolental white bilateral mass with vessels was also observed. The MRI and the ultrasound revealed a potential peritoneal hyperplastic glass body. Bilateral retinal detachment was diagnosed during surgery. R…
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
2014
SummaryExome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specificall…
Il servizio della Croce Rossa Italiana nelle zolfare di Sicilia dal 1898 al 1913.
2008
La Croce Rossa Italiana nelle miniere di zolfo in Sicilia ha iniziato a svolgere il suo primo servizio in tempo di pace nel 1898, a 34 anni dalla sua fondazione. E' stata ammirevole l'attività di I. Di Giovanni e di altri medici, anche dell'Università degli Studi di Palermo, quali A. Trmbusti ed i suoi allievi A. Amato e G. Gabrielli. Il servizio ha interessato all'esordio gli infortuni sul lavoro e successivamente anche la lotta all'anchilostomiasi e alla malari. Le norme hanno imposto agli industriali lo sviluppo di un sistema di tutela assicurativa e la costituzione in sindacato, al pari di altre nazioni europee. la presenza della Croce Rossa si è protratta fino al 1913, quando il Sindac…
Different Scales of Spatial Segregation of Two Species of Feather Mites on the Wings of a Passerine Bird
2011
The "condition-specific competition hypothesis" proposes that coexistence of 2 species is possible when spatial or temporal variations in environmental conditions exist and each species responds differently to those conditions. The distribution of different species of feather mites on their hosts is known to be affected by intrinsic host factors such as structure of feathers and friction among feathers during flight, but there is also evidence that external factors such as humidity and temperature can affect mite distribution. Some feather mites have the capacity to move through the plumage rather rapidly, and within-host variation in intensity of sunlight could be one of the cues involved …
Does fragmentation of wetlands affect gene flow in sympatric Acrocephalus warblers with different migration strategies?
2015
Wetlands are naturally patchy habitats, but patchiness has been accentuated by the extensive wetlands loss due to human activities. In such a fragmented habitat, dispersal ability is especially important to maintain gene flow between populations. Here we studied population structure, genetic diversity and demographic history of Iberian and North African populations of two wetland passerines, the Eurasian reed warbler Acrocephalus scirpaceus and the moustached warbler Acrocephalus melanopogon. These species are closely related and sympatric in our study sites, but the reed warbler is a long-distance migrant and widespread bird while the moustached warbler is resident or migrates over short d…
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
2023
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully delineated yet, and the spectrum and frequency of neurologic features have not been fully characterized. Here, we report a 5-year-old girl with compound heterozygous for two additional MED23 variants. Besides global developmental delay, axial hypotonia and peripheral increased muscular tone, absent speech, and generalized tonic seizures, which fit well MRT18, the occurrence of postnatal progressive microcephaly has been here documented. A retrospe…
A clinical review on megalencephaly
2017
Abstract Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders …
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
1999
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.
Dental approach for Apert syndrome in children : a systematic review
2017
Background Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS. Material and Methods A search of the literature was performed from April to June 2016 in five electronic databases. Clinical i…
An Update Review of Saffron and its Active Constituents
1996
This paper reviews the literature on recent research on the chemical composition and pharmacological activities of saffron (Crocus sativus) and its active constituents, mainly as antitumoral, hypolipidemic and tissue oxygenation enhancement agents.