A5088831574- Gastrointestinal motility and disorders
- Congenital gastrointestinal and neural anomalies
- Intestinal and Peritoneal Adhesions
- Intestinal Malrotation and Obstruction Disorders
- Mitochondrial Function and Pathology
- Helicobacter pylori-related gastroenterology studies
- Autism Spectrum Disorder Research
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- Diet and metabolism studies
- Dialysis and Renal Disease Management
- Functional Brain Connectivity Studies
- Genetic Neurodegenerative Diseases
- Enhanced Recovery After Surgery
- Neurological diseases and metabolism
- Gastroesophageal reflux and treatments
- EFL/ESL Teaching and Learning
- Hereditary Neurological Disorders
- Microscopic Colitis
- Digestive system and related health
- Celiac Disease Research and Management
- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Epigenetics and DNA Methylation
- Advanced Glycation End Products research
University of Bologna
2014-2023
Azienda USL di Bologna
2022
Mayo Clinic
2019
Policlinico S.Orsola-Malpighi
2012-2018
Pirelli (Italy)
2017
Center for Autism and Related Disorders
2015
Torino e-district
2013
Policlinico Umberto I
2003
Chronic constipation (CC) is a common and severe gastrointestinal complaint in Parkinson's disease (PD), but its pathogenesis remains poorly understood. This study evaluated functionally distinct submucosal neurons relation to colonic motility anorectal function PD patients with (PD/CC) vs both CC controls.Twenty-nine PD/CC 10 Rome III-defined were enrolled. Twenty asymptomatic age-sex matched subjects served as controls. Colonic transit time measurement conventional manometry patients....
Abstract There are at least two fundamental unanswered questions in the literature on autism spectrum disorders (ASD): Are abnormalities white (WM) and gray matter (GM) consistent with one another? WM morphometric alterations GM of regions connected by these abnormal bundles vice versa? The aim this work is to bridge gap. After selecting voxel‐based morphometry diffusion tensor imaging studies comparing autistic normally developing groups subjects, we conducted an activation likelihood...
Abstract Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, which only one, ligase III (LIG3), has splice variant crucial for health. We investigated the effect reduced LIG3 activity resulting dysfunction seven patients from independent families, who showed common occurrence dysmotility neurological manifestations reminiscent...
Abstract Intellectual disability ( ID ) and autism spectrum disorders ASD s) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin two siblings mild epilepsy the CADPS 2 gene, encoding for synaptic protein involved neurotrophin release interaction dopamine receptor type (D2 DR ). Mutation screening 223 additional patients (187 36 missense change disrupting 2/D2 interaction. allelic...
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive mitochondrial disease associated with mutations in the nuclear TYMP gene. As result, thymidine phosphorylase (TP) enzyme activity markedly reduced leading to toxic accumulation of and therefore altered DNA. MNGIE characterized by severe gastrointestinal dysmotility, neurological impairment, life expectancy poor quality life. There are limited therapeutic options for MNGIE. In attempt restore TP...
Serotonin (5-hydroxytryptamine, 5-HT) and its transporters receptors are involved in a wide array of digestive functions. In particular, 5-HT 4 known to mediate intestinal peristalsis recent data experimental animals have shown their role neuronal maintenance neurogenesis. This study has been designed test whether prucalopride, well-known full agonist, exerts protective effects on neurons, including enteric exposed oxidative stress challenge. Sulforhodamine B assay was used determine the...
Postsurgical gastric dysfunction is common, but the mechanisms are varied and poorly understood. The pylorus normally acts as an electrical barrier isolating intestinal slow waves. In this report, we present aberrant conduction pathway arising between stomach small intestine, following pyloric excision surgical anastomosis, a novel disease mechanism. A patient was referred with postsurgical gastroparesis antrectomy, gastroduodenostomy, vagotomy for peptic ulceration. Scintigraphy confirmed...
Abstract Background Gastrointestinal (GI) and extra‐GI symptoms/manifestations represent key clinical features of patients with non‐celiac gluten/wheat sensitivity (NCG/WS). This study aimed to investigate neuro‐immune (focusing on mast cells, MCs) interactions in the duodenal submucosa NCG/WS. Methods Submucosal whole mounts from biopsies 34 self‐reported NCG/WS, 28 celiac disease (CD), 13 functional dyspepsia (FD), 24 healthy controls (HC) were analyzed by immunohistochemistry....
Gastrointestinal (GI) symptoms can originate from severe dysmotility due to enteric neuropathies. Current methods used demonstrate neuropathies are based mainly on classic qualitative histopathological/immunohistochemical evaluation. This study was designed identify an objective morphometric method for paraffin-embedded tissue samples quantify the interganglionic distance between neighboring myenteric ganglia immunoreactive neuron-specific enolase, as well number of and submucosal neuronal...
Loss-of-function mutations in the SPART gene cause Troyer syndrome, a recessive form of spastic paraplegia resulting muscle weakness, short stature, and cognitive defects. encodes for Spartin, protein linked to endosomal trafficking mitochondrial membrane potential maintenance. Here, we identified with whole exome sequencing (WES) novel frameshift mutation 2 brothers presenting an uncharacterized developmental delay stature. Functional characterization SH-SY5Y cell model shows that this is...
Abstract Background Achalasia is a rare motility disorder characterized by myenteric neuron and interstitial cells of Cajal ( ICC ) abnormalities leading to deranged/absent peristalsis lack relaxation the lower esophageal sphincter. The mechanisms contributing neuronal changes in achalasia are only partially understood. Our goal was identify novel molecular features occurring patients with primary achalasia. Methods Esophageal full‐thickness biopsies from 42 (22 females; age range: 16‐82...
Pathogenic variants in
Serotonin plays a pivotal role in regulating gut motility, visceral sensitivity, and fluid secretion via specific receptors. Among these receptors, 5-HT4 exerts prominent control on motor function. Although the prokinetic effect exerted by agonists is well known, cellular sites of expression remain poorly understood large mammals, e.g., horses. In this study, we evaluated distribution horse intestine foals with enteric aganglionosis, reminiscent human Hirschsprung's disease.The spinal...
Abstract Background GDNF/RET and Endothelin‐3 (ET‐3)/EDNRB regulate survival, differentiation, migration, proliferation of neural crest‐derived cells. Although several RET EDNRB signalling mediators have been characterized, most the genes targeted by these two pathways are still largely unknown. We focused our study on apolipoprotein B ( APOB ) as a novel target gene pathways, based previous data obtained using Caenorhabditis elegans strain mutant for homologue mammalian ECE1 . Methods...
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a rare condition due to severe impairment of gut motility responsible for recurrent subocclusive episodes. Although neuromuscular‐glial‐ICC abnormalities represent the main pathogenetic mechanism, pathophysiology CIPO remains poorly understood. Intestinal epithelial and vascular endothelial barrier (IEVB) can contribute neuroepithelial changes by allowing passage harmful substances. Methods To test retrospectively whether...
RAD21 is a double-strand-break repair protein and component of the cohesin complex with key roles in cellular functions. A loss-of-function mutation was found cases chronic intestinal pseudo-obstruction (CIPO) associated enteric neuronal loss. Analysis expression nervous system lacking, thus we aimed to characterize immunoreactivity (IR) myenteric ganglia.Double labeling immunofluorescence mouse human jejunum used determine colocalization HuC/D, PGP9.5, nitric oxide synthase (nNOS),...
Abstract A system for the acquisition of high‐quality DDVC (digital differential voltage contrast) images based on a low‐cost personal computer and dedicated scanning electron microscope interface is described. It capable obtaining contrast maps passivated integrated circuits even supply lines, which are not usually seen due to static biasing. Grey‐level colour image‐comparison utilities allow effective state‐by‐state comparison failed device with good one, extremely useful failure analyses.
ABSTRACT Schizophrenia, obsessive-compulsive and autistic disorders are traditionally considered as three separate psychiatric conditions each with specific symptoms pattern of brain alterations. This view can be challenged since these have the same neurobiological origin, stemming from a common root unique neurodevelopmental tree. The aim this meta-analytic study was to determine, neuroimaging perspective, whether i) white matter gray alterations for different spectrum disorders,...