Search results for "PROB"

Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans

2018

Exome sequencing can interrogate thousands of genes simultaneously and it is becoming a first line diagnostic tool in genomic medicine. Herein, we applied trio clinical exome sequencing in a patient presenting with undiagnosed skeletal disorder, minor facial abnormalities, and kidney hypoplasia; her parents were asymptomatic. Testing the proband and her parents led to the identification of a de novo mutation c.188C>T (p.Pro63Leu) in the MAFB gene, which is known to cause multicentric carpotarsal osteolysis syndrome (MCTO). The c.188C>T mutation lies in a hotspot amino acid stretch within the transactivation domain of MAFB, which is a negative regulator of RANKL-induced osteoclastogenesis. M…

7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Li…

2019

Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

2017

// Antonino Tuttolomondo 1 , Irene Simonetta 1 , Giovanni Duro 2 , Rosaria Pecoraro 1 , Salvatore Miceli 1 , Paolo Colomba 2 , Carmela Zizzo 2 , Antonia Nucera 3, 4 , Mario Daidone 1 , Tiziana Di Chiara 1 , Rosario Scaglione 1 , Vittoriano Della Corte 1 , Francesca Corpora 1 , Danai Vogiatzis 1 and Antonio Pinto 1 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy 2 CNR-IBIM: Institute of Biomedicine and Molecular Immunology “A. Monroy” Palermo, Palermo, Italy 3 Stroke Unit, Neurology, Saint Andrea Hospital, La Spezia, Italy 4 Department of Clinical Neurological Sciences, Western Univer…

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome

2018

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most …

On the structural connectivity of large-scale models of brain networks at cellular level

2021

AbstractThe brain’s structural connectivity plays a fundamental role in determining how neuron networks generate, process, and transfer information within and between brain regions. The underlying mechanisms are extremely difficult to study experimentally and, in many cases, large-scale model networks are of great help. However, the implementation of these models relies on experimental findings that are often sparse and limited. Their predicting power ultimately depends on how closely a model’s connectivity represents the real system. Here we argue that the data-driven probabilistic rules, widely used to build neuronal network models, may not be appropriate to represent the dynamics of the …

The influence of microorganisms in allergic diseases.

2017

Newly Digitized Database Reveals the Lives and Families of Forced Migrants from Finnish Karelia

2017

Studies on displaced persons often suffer from a lack of data on the long-term effects of forced migration. A register created during 1960s and published as a book series ‘Siirtokarjalaisten tie’ in 1970 documented the lives of individuals who fled the southern Karelian district of Finland after its first and second occupation by the Soviet Union in 1940 and 1944. To realize the potential value of these data for scientific research, we have recently scanned the register using optical character recognition (OCR) software, and developed proprietary computer code to extract these data. Here we outline the steps involved in the digitization process, and present an overview of the Migration Kare…

Oral administration of Bifidobacterium bifidum G9-1 alleviates rotavirus gastroenteritis through regulation of intestinal homeostasis by inducing muc…

2017

Human rotavirus (RV) infection is a leading cause of dehydrating diarrhea in infants and young children worldwide. Since therapeutic approaches to RV gastroenteritis are limited to alleviation of dehydration with oral rehydration solutions, more direct approaches to palliate symptoms of RV gastroenteritis are required. Treatments with probiotics have been increasingly recognized as alternative safe and low cost treatments for moderate infectious diarrhea. In this study, Bifidobacterium bifidum G9-1 (BBG9-1), which has been used as an intestinal drug for several decades, was shown to have a remarkable protective effect against RV gastroenteritis in a suckling mice model. As well as prophylac…

Gut microbiota and aging-A focus on centenarians.

2020

Gut microbiota (GM) is a dynamic organ throughout the lifespan. Aging is a complex process that comprises a plethora of mechanisms such as senescence, immunosenescence and inflammaging, representing important pathways of age-related diseases. GM structure could both influence and be influenced by aging occurring changes within the host. A unique category of long living individuals exists, namely centenarians that have the outstanding capacity to adapt to various challenges. Longevity seems to be associated with certain GM which, among other factors, might render individuals more resistant to age-related diseases and subsequently to long living. Diet, prebiotics, probiotics and synbiotics ma…

Th17 skewing in the GALT of a Crohn disease patient upon Lactobacillus rhamnosus GG consumption.

2015

We wish to report on a recent observation we made and that might represent a useful hint for the employment of the so called probiotics in the management of some pathological immune reactions of the gut. By analyzing GALT-associated T cells upon consumption of L. rhamnosus-GG, we obtained some hints that probiotics might have locoregional immunological effects mainly when administered in patients with IBDs rather than in individuals with non-inflamed gut mucosa.