9 results on '"Giuffrè Mario"'
Search Results
2. Additional file 1 of Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
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Serra, Gregorio, Corsello, Giovanni, Antona, Vincenzo, D’Alessandro, Maria Michela, Cassata, Nicola, Cimador, Marcello, Giuffrè, Mario, Schierz, Ingrid Anne Mandy, and Piro, Ettore
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Data_FILES - Abstract
Additional file 1.
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- 2020
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3. Arginine-Rich Peptidomimetic Ampicillin/Gentamicin Conjugate To Tackle Nosocomial Biofilms: A Promising Strategy To Repurpose First-Line Antibiotics
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Paola Varvarà, Cinzia Calà, Carmelo M. Maida, Mario Giuffrè, Nicolò Mauro, Gennara Cavallaro, Varvarà, Paola, Calà, Cinzia, Maida, Carmelo M, Giuffrè, Mario, Mauro, Nicolò, and Cavallaro, Gennara
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Infectious Diseases ,antibiofilm ,Settore CHIM/09 - Farmaceutico Tecnologico Applicativo ,peptidomimetics ,drug delivery ,ampicillin ,arginine ,gentamicin ,Settore MED/42 - Igiene Generale E Applicata - Abstract
Combined therapy with penicillins and aminoglycosides has been proved beneficial to address many persistent bacterial infections with possible synergistic effects. However, the different pharmacokinetic profiles of these two antibiotic classes may not guarantee a concerted spatio-temporal delivery at the site of action, decreasing the efficacy of this combination and promoting resistance. Herein, we propose a multifunctional antibiotic-polymer conjugate, designed to colocalize ampicillin and gentamicin to tackle persistent biofilm infections. The two antibacterial molecules were grafted along with the amino acid l-arginine to a biocompatible polymer backbone with peptidomimetic hydrophilic structure, obtaining the antimicrobial poly(argilylaspartamide-co-aspartic) acid-ampicillin, gentamicin (PAA-AG) conjugate. The PAA-AG conjugate displayed excellent biocompatibility on human cell lines if compared with free drugs, potentially enlarging their therapeutic window and safety, and suitable mucoadhesive characteristics which may help local treatments of mucosal infections. Studies on planktonic cultures of clinical and reference strains of S. aureus, P. aeruginosa, and E. coli revealed that PAA-AG holds a broad-spectrum antibacterial efficacy, revealing high potency in inhibiting the growth of the tested strains. More interestingly, PAA-AG exhibited excellent antibiofilm activity on both Gram+ and Gram- communities, showing inhibition of their formation at subMIC concentrations as well as inducing the regression of mature biofilms. Given the high biocompatibility and broad antibiofilm efficacy, combined with the opportunity for synchronous co-delivery, the PAA-AG conjugate could be a valuable tool to increase the success of ampicillin/gentamicin-based antibiotic multitherapy.
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- 2023
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4. A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations
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Ingrid Am Schierz, Mario Giuffrè, Giovanni Corsello, Ettore Piro, Piro E., Schierz I.A.M., Giuffre M., Corsello G., Piro, Ettore, Schierz, Ingrid Am, Giuffrè, Mario, and Corsello, Giovanni
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Artero venous malformation ,medicine.medical_specialty ,business.industry ,Refugee ,Spectral doppler ,Gestational age ,medicine.disease ,refugee bones ,doppler echography ,Internal medicine ,Heart failure ,Pediatrics, Perinatology and Child Health ,Cardiology ,medicine ,business - Abstract
A newnborn admitted to NICU showed a severe clinical profile
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- 2022
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5. Epstein-Barr virus-associated acute pancreatitis: a clinical report and review of literature
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Salvatore Accomando, Giulia Angela Restivo, Simona Scalzo, Melania Guardino, Giovanni Corsello, Mario Giuffrè, Accomando, Salvatore, Restivo, Giulia Angela, Scalzo, Simona, Guardino, Melania, Corsello, Giovanni, and Giuffrè, Mario
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Adult ,Epstein-Barr Virus Infections ,Herpesvirus 4, Human ,Pancreatiti ,General Medicine ,Pancreatitis ,Child, Preschool ,Acute Disease ,Humans ,Epstein-Barr virus (EBV) ,Female ,Infectious Mononucleosis ,Child ,Children - Abstract
Background Acute pancreatitis is a disorder of reversible inflammation of the pancreas. Only a few cases are related to infections and the most common pathogens are the viruses responsible for mumps, parotitis, and influenza. Epstein-Barr virus (EBV)-associated acute pancreatitis is a rare condition and it may occur in children and adults. Case presentation A 3-year-old female was admitted to the “G. Di Cristina” Children's Hospital in Palermo for vomiting and abdominal pain. Laboratory investigations revealed elevated amylase and lipase, with normal liver function tests. Abdominal ultrasound demonstrated an enlarged pancreas, with hypoechogenic areas; no biliary lithiasis was observed. Infectious disease serology was positive for the presence of EBV VCA IgM and IgG. A diagnosis of EBV-associated acute pancreatitis was made. The patient was treated conservatively and recovered. Conclusions Acute pancreatitis is rarely associated with EBV infection; a review of the English literature revealed only 10 pediatric and 6 adult cases. Patients with pancreatitis should always be evaluated for EBV serology, even in the absence of the typical clinical and hematological features of infectious mononucleosis. For these patients, good prognosis is generally expected.
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- 2022
6. Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit
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Federica Scalia, Rosario Barone, Francesca Rappa, Antonella Marino Gammazza, Fabrizio Lo Celso, Giosuè Lo Bosco, Giampaolo Barone, Vincenzo Antona, Maria Vadalà, Alessandra Maria Vitale, Giuseppe Donato Mangano, Domenico Amato, Giusy Sentiero, Filippo Macaluso, Kathryn H. Myburgh, Everly Conway de Macario, Alberto J. L. Macario, Mario Giuffrè, Francesco Cappello, Scalia, Federica, Barone, Rosario, Rappa, Francesca, Marino Gammazza, Antonella, Lo Celso, Fabrizio, Lo Bosco, Giosuè, Barone, Giampaolo, Antona, Vincenzo, Vadalà, Maria, Vitale, Alessandra Maria, Donato Mangano, Giuseppe, Amato, Domenico, Sentiero, Giusy, Macaluso, Filippo, Myburgh, Kathryn H., Conway de Macario, Everly, Macario, Alberto J. L., Giuffrè, Mario, and Cappello, Francesco
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Settore BIO/17 - Istologia ,CCT5, neurochaperonopathies, chaperonin, neurodegenerative diseases, neuropathies, chaperone system, muscle histopathology, CCT5 apical domain ,Settore MED/38 - Pediatria Generale E Specialistica ,Settore BIO/16 - Anatomia Umana ,Settore MED/30 - Malattie Apparato Visivo ,Biochemistry, Genetics and Molecular Biology (miscellaneous) ,Molecular Biology ,Biochemistry ,Settore CHIM/02 - Chimica Fisica - Abstract
Recognition of diseases associated with mutations of the chaperone system genes, e.g., chaperonopathies, is on the rise. Hereditary and clinical aspects are established, but the impact of the mutation on the chaperone molecule and the mechanisms underpinning the tissue abnormalities are not. Here, histological features of skeletal muscle from a patient with a severe, early onset, distal motor neuropathy, carrying a mutation on the CCT5 subunit (MUT) were examined in comparison with normal muscle (CTR). The MUT muscle was considerably modified; atrophy of fibers and disruption of the tissue architecture were prominent, with many fibers in apoptosis. CCT5 was diversely present in the sarcolemma, cytoplasm, and nuclei in MUT and in CTR and was also in the extracellular space; it colocalized with CCT1. In MUT, the signal of myosin appeared slightly increased, and actin slightly decreased as compared with CTR. Desmin was considerably delocalized in MUT, appearing with abnormal patterns and in precipitates. Alpha-B-crystallin and Hsp90 occurred at lower signals in MUT than in CTR muscle, appearing also in precipitates with desmin. The abnormal features in MUT may be the consequence of inactivity, malnutrition, denervation, and failure of protein homeostasis. The latter could be at least in part caused by malfunction of the CCT complex with the mutant CCT5 subunit. This is suggested by the results of thein silicoanalyses of the mutant CCT5 molecule, which revealed various abnormalities when compared with the wild-type counterpart, mostly affecting the apical domain and potentially impairing chaperoning functions. Thus, analysis of mutated CCT5in vitroandin vivois anticipated to provide additional insights on subunit involvement in neuromuscular disorders.
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- 2022
7. Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital
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Giovanni Corsello, Ettore Piro, Gregorio Serra, Mario Giuffrè, Ingrid Anne Mandy Schierz, Piro, Ettore, Serra, Gregorio, Schierz, Ingrid Anne Mandy, Giuffrè, Mario, and Corsello, Giovanni
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Male ,Pediatrics ,medicine.medical_specialty ,Birth weight ,NTDs ,Prenatal diagnosis ,Hospitals, University ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Epidemiology ,Humans ,Medicine ,Neural Tube Defects ,030212 general & internal medicine ,Spina bifida ,Retrospective Studies ,Clinical management ,business.industry ,Research ,Prevention ,Medical record ,lcsh:RJ1-570 ,Infant, Newborn ,Gestational age ,lcsh:Pediatrics ,Retrospective cohort study ,Newborn ,medicine.disease ,Neurodevelopmental follow-up ,Treatment Outcome ,Italy ,Gestation ,Female ,business ,030217 neurology & neurosurgery - Abstract
Background Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period. Methods The medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement), demographic (ethnicity/origin, residence) and clinical features (eventual use of assisted reproduction techniques, prenatal diagnosis, gestational age, fetal presentation, type of delivery, birth weight, preoperative imaging, antibiotics and analgesics use, description of the surgery intervention, length of hospital stay, comorbidities, complications), and follow-up. Results In our sample we observed a wide spectrum of NTDs: 3 newborns had open NTDs, namely myelomeningocele (2 lumbosacral, one of which associated with extradural lipoma, and 1 sacral), and 4 closed ones, including 2 with meningocele (occipital), 1 filar lipoma associated with dermal sinus, and 1 terminal myelocystocele. Our patients were discharged between 8 and 22 days of life. The neurodevelopmental follow-up showed a favorable outcome for 4 of the 7 patients, and the appearance over time of neurological impairment (motor and/or autonomic) in the newborns with open NTDs. Conclusions This study describes familiar and/or maternal risk factors and demographic and clinical features of a single-center series of newborns with NTDs. It may provide a further outline of the actual phenotypic spectrum of these malformations, and new insights into epidemiological aspects and comprehensive management of the patients, including diagnostic work-up and follow-up evaluations.
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- 2020
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8. Growth patterns and associated risk factors of congenital malformations in twins
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Gregorio Serra, Giovanni Corsello, Ettore Piro, Giuseppe Puccio, Mario Giuffrè, Ingrid Anne Mandy Schierz, Piro, Ettore, Schierz, Ingrid Anne Mandy, Serra, Gregorio, Puccio, Giuseppe, Giuffrè, Mario, and Corsello, Giovanni
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Male ,Microcephaly ,medicine.medical_specialty ,Multiple birth ,Congenital abnormalities ,03 medical and health sciences ,0302 clinical medicine ,Child Development ,Risk Factors ,Diseases in Twins ,Medicine ,Birth Weight ,Humans ,Diaphragmatic hernia ,030212 general & internal medicine ,Retrospective Studies ,030219 obstetrics & reproductive medicine ,Genitourinary system ,business.industry ,Obstetrics ,Research ,lcsh:RJ1-570 ,Infant, Newborn ,Retrospective cohort study ,lcsh:Pediatrics ,General Medicine ,Odds ratio ,Birthweight discordance ,Anthropometry ,medicine.disease ,Retrospective study ,Italy ,Preterm infant ,Female ,business ,Body mass index - Abstract
BackgroundThe rate of twinning continues to increase due to the combined effect of a rise in parental age and increased use of assisted reproductive technology. The risk of congenital anomalies in twins is higher than in singletons, but it is less well reported in relation to growth patterns. We focused to the auxological outcome of twin pregnancies when one or both of twins are affected by one or more malformations.MethodsWe conducted a retrospective observational study reviewing the clinical charts of twins admitted in the period between January 2003 and December 2018 at the University Hospital of Palermo. The associations between malformations and anthropometric variables at birth were analyzed by comparison within each twin pair and regarding each variable as ordered difference between the two twins.ResultsWe studied data of 488 neonates (52% females) from 244 pregnancies. The rate of major congenital anomalies was 11%, affecting significantly the smaller twin (p = .00018; Odds ratio 3.21; 95% CI 1.65 6.59). Malformation class distribution was as following: genitourinary (24%), gastrointestinal (20%), cardiovascular (18.5%), musculoskeletal (11%), central nervous system (9%), syndromic (9%), ocular (5.5%) and diaphragmatic hernia (2%). The most predictive value, the Birthweight (BW) difference mean ratio in malformed versus not malformed neonates (− 0.31 vs 0.02;p = .0016) was distributed equally lower than zero in all malformed twins, except for those with congenital heart defects (p = .0000083).Microcephaly (head circumference ConclusionsIn case of one twin with a BW
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- 2020
9. A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol
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Giovanni Corsello, Ettore Piro, Mario Giuffrè, Simona La Placa, Ingrid Anne Mandy Schierz, Schierz, Ingrid Anne Mandy, Giuffrè, Mario, Piro, Ettore, La Placa, Simona, and Corsello, Giovanni
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Polyphenol ,medicine.medical_specialty ,Ductus Arteriosu ,Ventricular Dysfunction, Right ,Cardiomyopathy ,Heart Murmur ,Pulmonary Valve Stenosi ,Self Medication ,Diet, Mediterranean ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,030225 pediatrics ,Internal medicine ,Ductus arteriosus ,medicine ,Humans ,Vasoconstrictor Agents ,Adverse effect ,Cardiomyopathie ,Acetaminophen ,030219 obstetrics & reproductive medicine ,Heart Murmurs ,business.industry ,Ductus arteriosus closure ,Infant, Newborn ,Polyphenols ,Ductus Arteriosus ,Analgesics, Non-Narcotic ,medicine.disease ,Pulmonary Valve Stenosis ,medicine.anatomical_structure ,Prenatal Exposure Delayed Effects ,Pediatrics, Perinatology and Child Health ,Pulmonary valve stenosis ,cardiovascular system ,Cardiology ,Heart murmur ,Female ,medicine.symptom ,Vasoconstrictor Agent ,business ,Cardiomyopathies ,medicine.drug ,Human - Abstract
Paracetamol (acetaminophen or N-acetyl-p-aminophenol) is considered a safe analgesic and antipyretic nonsteroidal antiinflammatory drug commonly used during pediatric ages and during pregnancy. We report on a term neonate with closed ductus arteriosus, severe cardiomyopathy, right ventricular dysfunction, and functional stenosis of pulmonary arteries at birth after maternal self-medication with paracetamol and consumption of polyphenol-rich foods in late pregnancy. This drug, especially when associated with other vasoconstrictors (such as polyphenols), interferes with prostaglandin metabolism, which seriously accentuates the intrauterine ductus arteriosus constriction and leads to pharmacologic adverse events. We suggest maternal educational programs to avoid risky self-medications and provide training for the best diets.
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- 2017
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