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1.
J Cogn Neurosci ; 36(2): 217-224, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38010291

ABSTRACT

The ongoing reproducibility crisis in psychology and cognitive neuroscience has sparked increasing calls to re-evaluate and reshape scientific culture and practices. Heeding those calls, we have recently launched the EEGManyPipelines project as a means to assess the robustness of EEG research in naturalistic conditions and experiment with an alternative model of conducting scientific research. One hundred sixty-eight analyst teams, encompassing 396 individual researchers from 37 countries, independently analyzed the same unpublished, representative EEG data set to test the same set of predefined hypotheses and then provided their analysis pipelines and reported outcomes. Here, we lay out how large-scale scientific projects can be set up in a grassroots, community-driven manner without a central organizing laboratory. We explain our recruitment strategy, our guidance for analysts, the eventual outputs of this project, and how it might have a lasting impact on the field.


Subject(s)
Electroencephalography , Research Design , Humans , Reproducibility of Results
2.
Front Plant Sci ; 14: 1250208, 2023.
Article in English | MEDLINE | ID: mdl-37780525

ABSTRACT

The cultivated grapevine, Vitis vinifera subsp. vinifera, possesses a rich biodiversity with numerous varieties. Each variety adapts differently to varying pedoclimatic conditions, which greatly influence the terroir expression of wine regions. These conditions impact vine growth, physiology, and berry composition, ultimately shaping the unique characteristics and typicity of the wines produced. Nowadays, the potential of the different adaptation capacities of grape varieties has not yet been thoroughly investigated. We addressed this issue by studying two grape varieties, Aglianico and Cabernet Sauvignon, in two different pedoclimatic conditions of Southern Italy. We evaluated and compared the effect of different pedoclimatic conditions on plant physiology, the microbial quality of grapes using Next-Generation Sequencing (NGS) technology, the expression trends of key genes in ripe berries and the concentration of phenolic compounds in grapes and wines by HPLC-MS, HPLC-DAD, NMR and spectrophotometric analyses. Metabolomic and microbiome data were integrated with quantitative gene expression analyses to examine varietal differences and plasticity of genes involved in important oenological pathways. The data collected showed that the phenotypic response of studied grapes in terms of vigor, production, and fruit quality is strongly influenced by the pedoclimatic conditions and, in particular, by soil physical properties. Furthermore, Aglianico grape variety was more influenced than the Cabernet Sauvignon by environmental conditions. In conclusion, the obtained findings not only reinforce the terroir concept and our comprehension of grape's ability to adapt to climate variations but can also have implications for the future usage of grape genetic resources.

3.
Nutrients ; 15(10)2023 May 19.
Article in English | MEDLINE | ID: mdl-37242264

ABSTRACT

BACKGROUND: Obesity is a major public health problem worldwide. Bariatric surgery can reduce body weight, and it is one of the better ways to improve metabolic disease and lifestyle. The aim of this study was to explore a new cohort of patients with obesity and evaluate the gender differences and the steatosis status within the gender group. METHODS: A cohort of 250 adult obese patients with BMI ≥ 30 and age >18 years, eligible for gastric bariatric surgery at Pineta Grande Hospital, Castel Volturno (Italy) was studied. RESULTS: The prevalence in women was higher (72.40%) than men (27.60%). Overall, results indicated many statistically significant gender differences in hematological and clinical parameters. Analysis of the subcohorts based on the severity of steatosis revealed differences of this condition between the genders. Steatosis was more prevalent in the male subcohort, but female patients revealed greater within-group differences. CONCLUSIONS: Many differences were found not only in the total cohort but also between the gender subcohorts, both in the presence and absence of steatosis. We can conclude that the pathophysiological, genetic, and hormonal patterns affecting these patients delineate different individual profiles.


Subject(s)
Bariatric Surgery , Fatty Liver , Obesity, Morbid , Adult , Humans , Female , Male , Adolescent , Obesity, Morbid/complications , Obesity, Morbid/surgery , Obesity, Morbid/epidemiology , Fatty Liver/epidemiology , Obesity/complications , Obesity/epidemiology , Obesity/surgery
4.
Vaccines (Basel) ; 11(2)2023 Jan 22.
Article in English | MEDLINE | ID: mdl-36851125

ABSTRACT

The successful deployment of safe and effective vaccines against coronavirus disease 2019 (COVID-19) has been crucial in reducing the global disease burden. Owing to the need for vaccination series over time, continuous observational studies are needed to estimate the COVID-19 vaccine response in real-world conditions. In particular, the detection, assessment, and understanding of adverse effects following immunization (AEFI) with a COVID-19 vaccine are crucial to better address vaccination strategies. Therefore, this study aimed to investigate the risk of repeated AEFI post-administration of a booster dose of mRNA COVID-19 vaccine in a sample of healthcare workers (HCWs) in an Italian teaching hospital. The data on any local and systemic AEFI were studied in multivariate Poisson regression analyses to model the association between the incidence of each postvaccination symptom and its prior reporting after the administration of the previous doses. Overall, compared with the primary vaccination series, the majority of post-third dose AEFI were less reported. The results from multivariable models showed that the likelihood of reporting an AEFI after the third dose was higher in those who experienced the same postvaccination symptom after the second dose (all AEFI except for itch at injection site) and, although not significant for all AEFI, after the first dose. Any associations with age, gender, smoking habits, previous SARS-CoV-2 infection and other characteristics, as well as the health impact of AEFI were also assessed. Taken together, the results from this research support reframe AEFI symptoms as signals of a robust postvaccination reaction as well as of common vaccine response, and they add important data to inform booster vaccination strategies in HCWs and, extensively, in the adult population.

5.
Cereb Cortex ; 33(3): 543-556, 2023 01 05.
Article in English | MEDLINE | ID: mdl-35266994

ABSTRACT

Audio-visual (AV) integration plays a crucial role in supporting social functions and communication in autism spectrum disorder (ASD). However, behavioral findings remain mixed and, importantly, little is known about the underlying neurophysiological bases. Studies in neurotypical adults indicate that oscillatory brain activity in different frequencies subserves AV integration, pointing to a central role of (i) individual alpha frequency (IAF), which would determine the width of the cross-modal binding window; (ii) pre-/peri-stimulus theta oscillations, which would reflect the expectation of AV co-occurrence; (iii) post-stimulus oscillatory phase reset, which would temporally align the different unisensory signals. Here, we investigate the neural correlates of AV integration in children with ASD and typically developing (TD) peers, measuring electroencephalography during resting state and in an AV integration paradigm. As for neurotypical adults, AV integration dynamics in TD children could be predicted by the IAF measured at rest and by a modulation of anticipatory theta oscillations at single-trial level. Conversely, in ASD participants, AV integration/segregation was driven exclusively by the neural processing of the auditory stimulus and the consequent auditory-induced phase reset in visual regions, suggesting that a disproportionate elaboration of the auditory input could be the main factor characterizing atypical AV integration in autism.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Adult , Child , Humans , Visual Perception/physiology , Electroencephalography , Communication
6.
Open Med (Wars) ; 17(1): 2013-2020, 2022.
Article in English | MEDLINE | ID: mdl-36568516

ABSTRACT

Fistulas arising between ureters and iliac arteries (UAF) are rare pathological events and frequently require emergency treatment, as they are associated with massive haematuria and haemorrhagic shock. The medical history plays a key role in the diagnostic and therapeutic process, as it allows to include UAF among the differential diagnoses of gross haematuria. The emergency treatments of fistulas arising between the urinary system and the vascular system include the open repairing surgery or the endovascular grafting, the latter generally better tolerated by patients suffering from multiple comorbidities or not eligible for traditional surgery. Nephrostomy or ureteral stent can be used to drain the affected upper urinary tract temporarily or permanently. Herein, we reported two cases of oncological patients affected by UAF and treated successfully by endovascular procedures. Furthermore, we performed a narrative review of the literature concerning UAF and its diagnostic and therapeutic management. Although our study did not allow us to state definitive conclusion about the diagnostic and therapeutic management of UAF due to small sample size, our findings support previous experiences in favour of the treatment of fistulas with an endovascular approach.

7.
Transl Psychiatry ; 12(1): 305, 2022 08 01.
Article in English | MEDLINE | ID: mdl-35915065

ABSTRACT

The D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion. In these mice, we found reduced number of BrdU-positive dorsal pallium neurons during corticogenesis, and decreased cortical and striatal gray matter volume at adulthood. Brain abnormalities were associated with social recognition memory deficit at juvenile phase, suggesting that early D-aspartate occurrence influences neurodevelopmental related phenotypes. We corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire DDO gene.


Subject(s)
Autism Spectrum Disorder , Intellectual Disability , Adult , Animals , Aspartic Acid/metabolism , Autism Spectrum Disorder/genetics , D-Aspartate Oxidase/chemistry , D-Aspartate Oxidase/genetics , D-Aspartate Oxidase/metabolism , D-Aspartic Acid/genetics , D-Aspartic Acid/metabolism , Gene Duplication , Humans , Intellectual Disability/genetics , Memory Disorders/genetics , Mice , Oxidoreductases , Receptors, N-Methyl-D-Aspartate/metabolism
8.
Basic Clin Androl ; 32(1): 12, 2022 Jul 19.
Article in English | MEDLINE | ID: mdl-35850577

ABSTRACT

BACKGROUND: Fournier's gangrene (FG) is a necrotizing fasciitis caused by aerobic and anaerobic bacterial infection that involves genitalia and perineum. Males, in their 60 s, are more affected with 1.6 new cases/100.000/year. Main risk factors are diabetes, malignancy, inflammatory bowel disease. FG is a potentially lethal disease with a rapid and progressive involvement of subcutaneous and fascial plane. A multimodal approach with surgical debridement, antibiotic therapy, intensive support care, and hyperbaric oxygen therapy (HBOT) is often needed. We present the inpatient management of an FG case during the Covid-19 pandemic period. A narrative review of the Literature searching "Fournier's gangrene", "necrotizing fasciitis" on PubMed and Scopus was performed. CASE PRESENTATION: A 60 years old man affected by diabetes mellitus, with ileostomy after colectomy for ulcerative colitis, was admitted to our Emergency Department with fever and acute pain, edema, dyschromia of right hemiscrotum, penis, and perineal region. Computed tomography revealed air-gas content and fluid-edematous thickening of these regions. Fournier's Gangrene Severity Index was 9. A prompt broad-spectrum antibiotic therapy with Piperacillin/Tazobactam, Imipenem and Daptomycin, surgical debridement of genitalia and perineal region with vital tissue exposure, were performed. Bedside daily surgical wound medications with fibrine debridement, normal saline and povidone-iodine solutions irrigation, iodoform and fatty gauze application, were performed until discharge on the 40th postoperative day. Every 3 days office-based medication with silver dressing, after normal saline and povidone-iodine irrigation and fibrinous tissue debridement, was performed until complete re-epithelialization of the scrotum on the 60th postoperative day. CONCLUSIONS: FG is burdened by a high mortality rate, up to 30%. In the literature, HBOT could improve wound restoration and disease-specific survival. Unfortunately, in our center, we do not have HBOT. Moreover, one of the pandemic period problems was the patient's displacement and outpatient hospital management. For all these reasons we decided for a conservative inpatient management. Daily cleaning of the surgical wound allowed to obtain its complete restoration avoiding surgical graft and hyperbaric oxygen chamber therapy, without foregoing optimal outcomes.


RéSUMé: CONTEXTE: La gangrène de Fournier (GF) est une fasciite nécrosante causée par une infection bactérienne aérobie et anaérobie qui implique les organes génitaux et le périnée. Les hommes, dans la soixantaine, sont plus touchés avec 1,6 nouveau cas/100 000/an. Les principaux facteurs de risque sont le diabète, les tumeurs malignes, et les maladies inflammatoires de l'intestin. La GF est une maladie potentiellement mortelle avec une atteinte rapide et progressive du plan sous-cutané et fascial. Une approche multimodale, avec débridement chirurgical, antibiothérapie, soins de soutien intensif et oxygénothérapie hyperbare (OHB), est souvent nécessaire. Nous présentons la prise en charge en milieu hospitalier d'un cas de GF pendant la période de pandémie de Covid-19. Une revue narrative de la littérature, recherchant «gangrène de Fournier¼, «fasciite nécrosante¼ sur PubMed et Scopus, a été réalisée. CAS CLINQUE: Un homme de 60 ans, atteint d'un diabète sucré et porteur d'une iléostomie après colectomie pour colite ulcéreuse, a été admis dans notre service d'urgences, avec fièvre et des douleurs aiguës, œdème et dyschromie de l'hémiscrotum droit, du pénis et de la région périnéale. La tomodensitométrie a révélé une teneur en air-gaz et un épaississement fluide-œdémateux de ces régions. L'indice de gravité de la gangrène de Fournier était de 9. Une antibiothérapie rapide à large spectre avec Pipéracilline/tazobactam, imipénème et daptomycine, et un débridement chirurgical des organes génitaux et de la région périnéale avec exposition des tissus vitaux, ont été effectués. Ont été réalisés au chevet du patient, un traitement quotidien des plaies chirurgicales, avec débridement de la fibrine, irrigation par solution saline normale et solution de povidone-iode, et application de gaze iodoforme et grasse, jusqu'à la décharge au 40èmejour postopératoire. Tous les 3 jours, un traitement à base de médicaments d'officine avec pansement à l'argent a été réalisé après irrigation par solution saline normale et solution de povidone-iode, et débridement de la fibrine des tissus, jusqu'à la ré-épithélialisation complète du scrotum au 60ème jour postopératoire. CONCLUSIONS: La GF est grevée d'un taux de mortalité élevé, jusqu'à 30%. Dans la littérature, l'OHB pourrait améliorer la restauration des plaies et la survie spécifique de la maladie. Malheureusement, dans notre centre, nous n'avons pas d'OHB. En outre, l'un des problèmes de la période pandémique était le déplacement du patient et la prise en charge ambulatoire des hôpitaux. Pour toutes ces raisons, nous avons opté pour une prise en charge conservatrice en milieu hospitalier. Le nettoyage quotidien de la plaie chirurgicale a permis d'obtenir sa restauration complète en évitant la greffe chirurgicale et la thérapie en chambre à oxygène hyperbare, sans renoncer à des résultats optimaux. MOTS-CLéS: Gangrène de Fournier, fasciite nécrosante, urgence urologique, débridement chirurgical.

9.
Sensors (Basel) ; 22(8)2022 Apr 08.
Article in English | MEDLINE | ID: mdl-35458838

ABSTRACT

M/EEG resting-state analysis often requires the definition of the epoch length and the criteria in order to select which epochs to include in the subsequent steps. However, the effects of epoch selection remain scarcely investigated and the procedure used to (visually) inspect, label, and remove bad epochs is often not documented, thereby hindering the reproducibility of the reported results. In this study, we present Scorepochs, a simple and freely available tool for the automatic scoring of resting-state M/EEG epochs that aims to provide an objective method to aid M/EEG experts during the epoch selection procedure. We tested our approach on a freely available EEG dataset containing recordings from 109 subjects using the BCI2000 64 channel system.


Subject(s)
Computers , Electroencephalography , Electroencephalography/methods , Humans , Reproducibility of Results
10.
Medicina (Kaunas) ; 58(4)2022 Apr 08.
Article in English | MEDLINE | ID: mdl-35454363

ABSTRACT

Psychomotor developmental delay is a disorder with a prevalence of 12-18% in the pediatric population, characterized by the non-acquisition of motor, cognitive and communication skills during the child's development, in relation to chronological age. An appropriate neuropsychomotor evaluation and the use of new technologies, such as Array Comparative Genomic Hybridization (a-CGH) and Next-generation sequencing (NGS), can contribute to early diagnosis and improving the quality of life. In this case, we have analyzed a boy aged 2 years and 8 months, with a diagnosis of psychomotor developmental delay, mainly in the area of communication and language. The a-CGH analysis identified three de novo deletions of uncertain clinical significance, involving PLXNA2 (1q32.2), PRELID2, GRXCR2 and SH3RF2 (5q32), RIMS1 (6q13), and a heterozygous duplication of maternal origin involved three genes: HELZ, PSMD12 and PITPNC1 (17q24.2). Among all these alterations, our attention focused on the PLXNA2 gene because of the central function that plexin 2 carries out in the development of the central nervous system. However, all genes detected in the analysis could contribute to the phenotypic characteristics of the patient.


Subject(s)
Developmental Disabilities , Gene Deletion , Child , Comparative Genomic Hybridization , Developmental Disabilities/genetics , Humans , Male , Quality of Life
11.
Intern Emerg Med ; 17(2): 481-486, 2022 03.
Article in English | MEDLINE | ID: mdl-34637084

ABSTRACT

This study investigated the response to BNT162b2 mRNA COVID-19 vaccine among healthcare workers (HCWs) in an Italian teaching hospital. 444 participants were surveyed with either multiple RT-PCR assays for detection of SARS-CoV-2 nucleic acid in nasopharyngeal swabs or serology testing for the research of virus-specific immunoglobulins. Adverse events following immunization (AEFI) were reported. Two weeks after the first dose anti-SARS-CoV-2 antibodies exceeded reactivity cut-off in 82.5% the participants. Four HCWs tested positive at nasopharyngeal swab after 3 months. More than three-quarters reported AEFIs. Our findings offer an insight regarding the vaccine response after 3 months from its administration, with a special focus on effectiveness data, as well as the type and number of AEFIs complained by HCW recipients. The presented study may serve as reference for future research which will be necessary to explore the long-term safety of this vaccine, especially in population at high risk for infection, such as HCWs.


Subject(s)
BNT162 Vaccine , COVID-19 , COVID-19/epidemiology , COVID-19/prevention & control , COVID-19 Vaccines/adverse effects , Follow-Up Studies , Health Personnel , Humans , RNA, Messenger , SARS-CoV-2
12.
Int J Mol Sci ; 24(1)2022 Dec 31.
Article in English | MEDLINE | ID: mdl-36614168

ABSTRACT

Different molecular mechanisms contribute to the development of multidrug resistance in cancer, including increased drug efflux, enhanced cellular repair mechanisms and alterations of drug metabolism or drug targets. ABCG2 is a member of the ATP-binding cassette superfamily transporters that promotes drug efflux, inducing chemotherapeutic resistance in malignant cells. In this context, the development of selective ABCG2 inhibitors might be a suitable strategy to improve chemotherapy efficacy. Thus, through a multidisciplinary approach, we identified a new ABCG2 selective inhibitor (8), highlighting its ability to increase mitoxantrone cytotoxicity in both hepatocellular carcinoma (EC50from 8.67 ± 2.65 to 1.25 ± 0.80 µM) and transfected breast cancer cell lines (EC50from 9.92 ± 2.32 to 2.45 ± 1.40 µM). Moreover, mitoxantrone co-administration in both transfected and non-transfected HEK293 revealed that compound 8 notably lowered the mitoxantrone EC50, demonstrating its efficacy along with the importance of the ABCG2 extrusion pump overexpression in MDR reversion. These results were corroborated by evaluating the effect of inhibitor 8 on mitoxantrone cell uptake in multicellular tumor spheroids and via proteomic experiments.


Subject(s)
ATP Binding Cassette Transporter, Subfamily G, Member 2 , Antineoplastic Agents , Neoplasms , Humans , Antineoplastic Agents/chemistry , ATP Binding Cassette Transporter, Subfamily G, Member 2/antagonists & inhibitors , Cell Line, Tumor , Drug Resistance, Neoplasm , HEK293 Cells , Mitoxantrone/pharmacology , Neoplasm Proteins/antagonists & inhibitors , Proteomics
14.
Sensors (Basel) ; 21(17)2021 Aug 26.
Article in English | MEDLINE | ID: mdl-34502628

ABSTRACT

The compensation of magnetic and electromagnetic interference generated by drones is one of the main problems related to drone-borne magnetometry. The simplest solution is to suspend the magnetometer at a certain distance from the drone. However, this choice may compromise the flight stability or introduce periodic data variations generated by the oscillations of the magnetometer. We studied this problem by conducting two drone-borne magnetic surveys using a prototype system based on a cesium-vapor magnetometer with a 1000 Hz sampling frequency. First, the magnetometer was fixed to the drone landing-sled (at 0.5 m from the rotors), and then it was suspended 3 m below the drone. These two configurations illustrate endmembers of the possible solutions, favoring the stability of the system during flight or the minimization of the mobile platform noise. Drone-generated noise was filtered according to a CWT analysis, and both the spectral characteristics and the modelled source parameters resulted analogously to that of a ground magnetic dataset in the same area, which were here taken as a control dataset. This study demonstrates that careful processing can return high quality drone-borne data using both flight configurations. The optimal flight solution can be chosen depending on the survey target and flight conditions.


Subject(s)
Magnetic Phenomena , Noise
15.
Article in English | MEDLINE | ID: mdl-34299676

ABSTRACT

Background: Facebook is the most popular social network across the world and also allows users access to health information. Our study presents an overview of the official Facebook profiles of hospitals in Italy (n = 1351) and how much they are used. Methods: All hospitals were surveyed on the number of Facebook posts in May (post-lockdown) and October (second pandemic wave) 2020. The number of followers, the creation date of the official page, and the frequency of publication-that is, the average number of days between two subsequent posts-were determined. Results: In Italy, only 28% (n = 379) of the hospitals had official Facebook pages, of which 20.6% (n = 78) were public hospitals, and 79.4% (n = 301) were private hospitals. Of the hospitals with Facebook pages, 49.1% used them every week, and public hospitals published more often. Conclusions: Despite the differences between regions and types of management, the number of hospitals in Italy that use Facebook as a tool for the public dissemination of health information is still low. Hospitals should adopt an effective communication strategy using social networks to improve the quality of health care.


Subject(s)
COVID-19 , Social Media , Communicable Disease Control , Hospitals , Humans , Italy , SARS-CoV-2
16.
Proc Natl Acad Sci U S A ; 117(44): 27712-27718, 2020 11 03.
Article in English | MEDLINE | ID: mdl-33087573

ABSTRACT

Any defects of sociality in individuals diagnosed with autism spectrum disorder (ASD) are standardly explained in terms of those individuals' putative impairments in a variety of cognitive functions. Recently, however, the need for a bidirectional approach to social interaction has been emphasized. Such an approach highlights differences in basic ways of acting between ASD and neurotypical individuals which would prevent them from understanding each other. Here we pursue this approach by focusing on basic action features reflecting the agent's mood and affective states. These are action features Stern named "vitality forms," and which are widely assumed to substantiate core social interactions [D. N. Stern, The Interpersonal World of the Infant (1985); D. N. Stern, Forms of Vitality Exploring Dynamic Experience in Psychology, Arts, Psychotherapy, and Development (2010)]. Previously we demonstrated that, although ASD and typically developing (TD) children alike differentiate vitality forms when performing actions, ASD children express them in a way that is motorically dissimilar to TD children. To assess whether this motor dissimilarity may have consequences for vitality form recognition, we asked neurotypical participants to identify the vitality form of different types of action performed by ASD or TD children. We found that participants exhibited remarkable inaccuracy in identifying ASD children's vitality forms. Interestingly, their performance did not benefit from information feedback. This indicates that how people act matters for understanding others and for being understood by them. Because vitality forms pervade every aspect of daily life, our findings promise to open the way to a deeper comprehension of the bidirectional difficulties for both ASD and neurotypical individuals in interacting with one another.


Subject(s)
Autism Spectrum Disorder/psychology , Comprehension , Recognition, Psychology , Social Interaction , Adult , Child , Female , Healthy Volunteers , Humans , Male , Young Adult
17.
Mol Genet Genomic Med ; 8(7): e1260, 2020 07.
Article in English | MEDLINE | ID: mdl-32396277

ABSTRACT

BACKGROUND: Syndromic dilated cardiomyopathy (DCM) includes a group of complex disorders with a very heterogeneous genetic etiology, leading to delay in definitive diagnosis. Conversely, an early genetic diagnosis is very important in determining the disease course, the prognosis, and may guide personalized treatments and family counseling. METHODS: We analyzed two brothers with a multisystemic disorder, including dilated cardiomyopathy, diabetes, bilateral neurosensorial hearing loss, and optic atrophy, using different genetic approaches, namely mitochondrial DNA sequencing, comparative genomic hybridization-array (a-CGH) and whole exome sequencing (WES). RESULTS: Sequencing of the wide mitochondrial genome revealed, in both brothers, the known homoplasmic variant rs2853826 in the subunit 3 of the NADH dehydrogenase gene (MT-ND3), whose pathogenicity was conflicting. Comparative genomic hybridization-array analysis revealed in both patients and their father two heterozygous deletions in Phosphodiesterase 4d-Interacting Protein (PDE4DIP) and Protocadherin-related 15 (PCDH15) genes, respectively. The use of WES detected a pathogenetic mutation in ALMS1, enabling the definitive diagnosis of Alström syndrome. CONCLUSION: We demonstrated how the diagnosis of a complex heterogeneous disease may be difficult, due to several overlapping manifestations and the possible interaction of more genetic variants that could lead to a more severe and complex phenotype. This paper strongly evidences how genomics is revolutionizing the diagnosis of rare complex disease, representing one of the most essential steps to enable a definitive diagnosis and to establish the etiology for diseases, such as syndromic DCM.


Subject(s)
Alstrom Syndrome/genetics , Cardiomyopathy, Dilated/genetics , Genetic Testing/methods , Adaptor Proteins, Signal Transducing/genetics , Alstrom Syndrome/diagnosis , Cadherin Related Proteins , Cadherins/genetics , Cardiomyopathy, Dilated/diagnosis , Comparative Genomic Hybridization/methods , Cytoskeletal Proteins/genetics , Diagnosis, Differential , Electron Transport Complex I/genetics , Gene Deletion , Heterozygote , Humans , Male , Middle Aged , Pedigree , Whole Genome Sequencing/methods
18.
ESC Heart Fail ; 7(3): 1095-1100, 2020 06.
Article in English | MEDLINE | ID: mdl-32142222

ABSTRACT

An elderly patient with head injury was registered to the emergency room. Because the patient arrived to the hospital unconscious, her cranial, cerebrovascular, and cardiac function was studied. The cardiac function measurements were (i) heart rate, (ii) blood pressure, (iii) oxygen saturation level, (iv) electrocardiogram (ECG), (v) coronary angiogram, (vi) chest computerized tomography (CT), and (vii) echocardiogram. The head damage was studied by cerebral CT and magnetic resonance imaging (MRI). The serum ischemia and inflammatory biomarkers were analysed. For the immediate treatment, the patient received cardiovascular system supporting medication. The cardiac diagnostic results were (i) the ECG suggested an elevation in the left ventricular systolic function, (ii) the blood test showed neutrophilia, increased creatine and increased troponin I kinase values, and (iii) the coronary angiogram and ECG analysis demonstrated a lack of a myocardial infarction but identified apical akinesia. The patient did not have previous symptoms of cardiovascular disease. The brain imaging demonstrated (iv) an acute ischemia in the left occipital area and (v) increased intracranial pressure. Brain MRI indicated (vi) aqueductal stenosis and (vii) multiple gliomatotic foci demonstrating hydrocephalus caused by gliomatosis cerebri. A chest CT indicated (viii) chronic obstructive pulmonary disease (COPD). One week later, the patient died because of cardiac arrest. The diagnosis was Takotsubo syndrome enforced by gliomatosis cerebri and COPD. To our knowledge, this is the first reported case in which the cardiac dysfunction of the patient is associated with gliomatosis cerebri-derived hydrocephalus and increased intracranial pressure that together with COPD may have enhanced the negative clinical outcome.


Subject(s)
Takotsubo Cardiomyopathy , Aged , Echocardiography , Electrocardiography , Female , Humans , Intracranial Pressure , Takotsubo Cardiomyopathy/complications , Takotsubo Cardiomyopathy/diagnosis , Ventricular Function, Left
19.
Neuroimage Clin ; 28: 102484, 2020.
Article in English | MEDLINE | ID: mdl-33395975

ABSTRACT

Sensory and perceptual anomalies may have a major impact on basic cognitive and social skills in humans. Autism Spectrum Disorder (ASD) represents a special perspective to explore this relationship, being characterized by both these features. The present study employed electroencephalography (EEG) to test whether detail-oriented visual perception, a recognized hallmark of ASD, is associated with altered neural oscillations and functional connectivity in the beta frequency band, considering its role in feedback and top-down reentrant signalling in the typical population. Using a visual crowding task, where participants had to discriminate a peripheral target letter surrounded by flankers at different distances, we found that detail-oriented processing in children with ASD, as compared to typically developing peers, could be attributed to anomalous oscillatory activity in the beta band (15-30 Hz), while no differences emerged in the alpha band (8-12 Hz). Altered beta oscillatory response reflected in turn atypical functional connectivity between occipital areas, where the initial stimulus analysis is accomplished, and infero-temporal regions, where objects identity is extracted. Such atypical beta connectivity predicted both ASD symptomatology and their detail-oriented processing. Overall, these results might be explained by an altered feedback connectivity within the visual system, with potential cascade effects in visual scene parsing and higher order functions.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Child , Cognition , Electroencephalography , Humans , Visual Perception
20.
Aesthetic Plast Surg ; 44(1): 201-206, 2020 02.
Article in English | MEDLINE | ID: mdl-31822961

ABSTRACT

One of the potential complications of aesthetic surgery is bleeding. Given the high surgical activity carried out in our center and the variety of interventions performed, the risk of bleeding is not negligible: A clinical practice that could reduce this postsurgical complication is necessary. The goal of this article is to value effectiveness of a bleeding score obtained through the evaluation of anamnestic data. The study was divided into two steps. The preliminary data consist in the creation of a form for the evaluation of the bleeding score based on literary data. Subsequently, the first step was put on a retrospective study on 163 patients who underwent aesthetic surgery from January 2013 to July 2017. In the second step, the bleeding score was introduced in clinical practice, submitting the form to 223 patients operated on from September 2017 to September 2018. Retrospective results showed that patients with a low bleeding index had no hemorrhagic complications. One patient of three with a medium-high bleeding score showed a hemorrhagic complication in the postoperative course. The prospective study showed that in three patients with an index between 4 and 7, the level II panel analysis confirmed a medium risk of incurring bleeding episodes during or after the surgery. One patient in 223 obtained a bleeding index of 9: This patient was not operated on and he was sent to the reference center for further investigation. This routine will help to recognize, manage, and prevent hemorrhagic complications of aesthetic surgery.Level of Evidence V This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.


Subject(s)
Surgery, Plastic , Humans , Male , Plastics , Prognosis , Prospective Studies , Retrospective Studies
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