Publications by authors named "Alessandro Rocca"

13 Publications

  • Page 1 of 1

Case reports of annular erythema: A diagnostic clue of multisystem inflammatory syndrome in children related to coronavirus disease 2019?

J Dermatol 2021 Jun 14. Epub 2021 Jun 14.

Pediatric Emergency Unit, Department of Medical and Surgical Sciences (DIMEC), IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/1346-8138.16019DOI Listing
June 2021

Sleep disorders reveal distress among children and adolescents during the Covid-19 first wave: results of a large web-based Italian survey.

Ital J Pediatr 2021 Jun 4;47(1):130. Epub 2021 Jun 4.

Pediatric Emergency Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna, Bologna, Italy.

Background: Measures to contain the Covid-19 pandemic led to significant lifestyle changes for children and adolescents mainly related to the closure of schools and recreational activities, reduced social interaction, and increased family concerns.

Methods: A cross-sectional online survey of 78 questions investigating social determinants of health, mood changes, symptoms of anxiety, increase in sleep disorders and unusual repetitive movements was offered to parents living in Italy with children ≤18 years; including families of children with disabilities, autism spectrum disorders, chronic diseases, and specific learning disabilities. The survey was conducted on the Qualtrics platform 6 months after the beginning of the pandemic and distributed in hospitals and paediatricians' waiting rooms as well as through social networks. The primary outcomes were the increase in sleep disorders among children and adolescents. Possible risk factors were investigated through multivariable regression.

Results: Six thousand two hundred ten volunteer parents responded to the questions concerning mood changes, sleep disorders and unusual repetitive movements, and were included in the present study. The majority were female (91.8%) and Italian (97.0%). 72.7% answered that their children had become more nervous, worried, or sad (80.2% in children with learning disabilities); 77.6% reported feelings of loneliness and 69.3% more difficulties in children falling asleep, 30.2% in staying asleep, and 18.7% an increase in nightmares and/or sleep terrors. Statistical analysis identified socioeconomic status, parent's job loss, food insecurity, family attitude toward the pandemic, and children's mood swing, feelings of loneliness, or missing outdoor activities, as major risk factors for sleep disorders.

Conclusion: The first Covid-19 lockdown impacted children's and adolescents' health through an increase in sleep disorders. In the following phases of the pandemic, this evidence may be useful to investigate and treat these disorders as well as make decisions about containment health policies concerning this age group.
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http://dx.doi.org/10.1186/s13052-021-01083-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176278PMC
June 2021

Passive Immunoprophylaxis against Respiratory Syncytial Virus in Children: Where Are We Now?

Int J Mol Sci 2021 Apr 2;22(7). Epub 2021 Apr 2.

Pediatric Emergency Unit, Scientific Institute for Research and Healthcare (IRCCS), Sant'Orsola Hospital, 40138 Bologna, Italy.

Respiratory syncytial virus (RSV) represents the main cause of acute respiratory tract infections in children worldwide and is the leading cause of hospitalization in infants. RSV infection is a self-limiting condition and does not require antibiotics. However hospitalized infants with clinical bronchiolitis often receive antibiotics for fear of bacteria coinfection, especially when chest radiography is performed due to similar radiographic appearance of infiltrate and atelectasis. This may lead to unnecessary antibiotic prescription, additional cost, and increased risk of development of resistance. Despite the considerable burden of RSV bronchiolitis, to date, only symptomatic treatment is available, and there are no commercially available vaccines. The only licensed passive immunoprophylaxis is palivizumab. The high cost of this monoclonal antibody (mAb) has led to limiting its prescription only for high-risk children: infants with chronic lung disease, congenital heart disease, neuromuscular disorders, immunodeficiencies, and extreme preterm birth. Nevertheless, it has been shown that the majority of hospitalized RSV-infected children do not fully meet the criteria for immune prophylaxis. While waiting for an effective vaccine, passive immune prophylaxis in children is mandatory. There are a growing number of RSV passive immunization candidates under development intended for RSV prevention in all infants. In this review, we describe the state-of-the-art of palivizumab's usage and summarize the clinical and preclinical trials regarding the development of mAbs with a better cost-effectiveness ratio.
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http://dx.doi.org/10.3390/ijms22073703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038138PMC
April 2021

Myocarditis and coronary aneurysms in a child with acute respiratory syndrome coronavirus 2.

ESC Heart Fail 2021 02 17;8(1):761-765. Epub 2020 Dec 17.

Department of Pediatrics, University of Bologna, S. Orsola Hospital, Bologna, Italy.

A 6-year-old African boy with multi-viral infection including parvovirus B19 and severe acute respiratory syndrome coronavirus 2 was admitted for persistent fever associated with respiratory distress and myocarditis complicated by cardiogenic shock needing ventilatory and inotropic support. Coronary aneurysms were also documented in the acute phase. Blood tests were suggestive of macrophage activation syndrome. He was treated with intravenous immunoglobulins, aspirin, diuretics, dexamethasone, hydroxychloroquine, and prophylactic low molecular weight heparin. Normalization of cardiac performance and coronary diameters was noticed within the first days. Cardiac magnetic resonance imaging, performed 20 days after the hospitalization, evidenced mild myocardial interstitial oedema with no focal necrosis, suggesting a mechanism of cardiac stunning related to cytokines storm rather than direct viral injury of cardiomyocytes.
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http://dx.doi.org/10.1002/ehf2.13048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835580PMC
February 2021

Current State and Challenges in Developing Respiratory Syncytial Virus Vaccines.

Vaccines (Basel) 2020 Nov 11;8(4). Epub 2020 Nov 11.

Pediatric Emergency Unit, Department of Medical and Surgical Sciences (DIMEC), Sant'Orsola University Hospital, 40138 Bologna, Italy.

Respiratory syncytial virus (RSV) is the main cause of acute respiratory tract infections in infants and it also induces significant disease in the elderly. The clinical course may be severe, especially in high-risk populations (infants and elderly), with a large number of deaths in developing countries and of intensive care hospitalizations worldwide. To date, prevention strategies against RSV infection is based on hygienic measures and passive immunization with humanized monoclonal antibodies, limited to selected high-risk children due to their high costs. The development of a safe and effective vaccine is a global health need and an important objective of research in this field. A growing number of RSV vaccine candidates in different formats (particle-based vaccines, vector-based vaccines, subunit vaccines and live-attenuated vaccines) are being developed and are now at different stages, many of them already being in the clinical stage. While waiting for commercially available safe and effective vaccines, immune prophylaxis in selected groups of high-risk populations is still mandatory. This review summarizes the state-of-the-art of the RSV vaccine research and its implications for clinical practice, focusing on the characteristics of the vaccines that reached the clinical stage of development.
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http://dx.doi.org/10.3390/vaccines8040672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711987PMC
November 2020

Rhinovirus Infection in Children with Acute Bronchiolitis and Its Impact on Recurrent Wheezing and Asthma Development.

Microorganisms 2020 Oct 21;8(10). Epub 2020 Oct 21.

Department of Medical and Surgical Sciences, Pediatric Emergency Unit, St Orsola Polyclinic, University of Bologna, 40138 Bologna, Italy.

Acute bronchiolitis represents the leading cause of hospitalization in infants. Together with a respiratory syncytial virus, rhinovirus (RV) is one of the most common pathogens associated with bronchiolitis, and its genetic diversity (>150 types) makes the recurrence of RV infections each year quite typical. The frequency of RV infection and co-infection with other viruses and its impact on the clinical course of bronchiolitis have been studied by several authors with controversial results. Some studies demonstrate that multiple virus infections result in more severe clinical presentation and a higher risk of complications, whereas other studies suggest no influence on clinical course. Moreover, RV bronchiolitis has been reported to potentially contribute to the development of long-term sequelae, such as recurrent wheezing and asthma, in the pediatric population. In the present review, we summarize the most recent findings of the role of RV infection in children with acute bronchiolitis, its impact on subsequent asthma development, and the implication in clinical practice.
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http://dx.doi.org/10.3390/microorganisms8101620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7589781PMC
October 2020

Gluten Deprivation: What Nutritional Changes Are Found During the First Year in Newly Diagnosed Coeliac Children?

Nutrients 2019 Dec 25;12(1). Epub 2019 Dec 25.

Paediatrics, University of Bologna, 40138 Bologna, Italy.

Aim: A gluten-free diet (GFD) can expose children to excessive calories and fat intake. The study is intended to verify whether and how food intake, laboratory parameters, and growth are modified by a year of GFD.

Methods: In 79 CD (coeliac disease) children (mean age 7.9 ± 3.8 years, 52 females, 27 males) diagnosed over 24 months, 24-h food diaries, food-frequency patterns, anthropometric and laboratory parameters (mainly blood sugar, insulin, lipid profile, and homocysteine) were prospectively collected before and during the first year of GFD. Nutrient intakes were compared over time and with recommendations. They were also used as regressors to explain the levels and changes of metabolic and growth variables. -values < 0.05 were considered statistically significant.

Results: Average macronutrient intake did not change during the year. Caloric intake remained below 90% ( ≤ 0.0001) and protein intake above 200% ( ≤ 0.0001) of recommendations. Lipid intake was stable at 34% of overall energy intake. Unsaturated fats increased (less omega-6 and more omega-3 with a ratio improvement from 13.3 ± 5.5 to 8.8 ± 3.1) and so did fibers, while folate decreased. The children who experienced a containment in their caloric intake during the year, presented a slower catch-up growth. Some differences were found across gender and age groups. In particular, adolescents consumed less calories, and females more omega-3. Fiber and simple sugar intakes emerged as implicated in lipid profile shift: fibers negatively with triglycerides (TG) ( = 0.033), simple sugars negatively with high-density lipoprotein (HDL) ( = 0.056) and positively with TG ( = 0.004). Waist-to-height ratio was positively associated with homocysteine ( = 0.018) and Homeostasis Model Assessment ( = 0.001), negatively with fibers ( = 0.004).

Conclusion: In the short run, GFD is nutritionally very similar to any diet with gluten, with some improvements in unsaturated fats and fiber intake. Along with simple sugars containment, this may offer CD patients the opportunity for a fresh start. Caloric intakes may shift and should be monitored, especially in adolescents.
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http://dx.doi.org/10.3390/nu12010060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7020039PMC
December 2019

Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.

Eur J Paediatr Neurol 2019 Jul 25;23(4):653-656. Epub 2019 May 25.

Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Bologna, Italy. Electronic address:

Introduction: Pallister-Killian Syndrome (PKS) (OMIM #601803) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. Epilepsy is a frequent concern in PKS patients.

Methods: we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype.

Results: Epilepsy onset was in the first 2 years of life in all patients and in 2 of them myoclonic seizures were the only seizure type. In all children photosensitivity was observed and myoclonic seizures were mainly related to low-frequency (1-6 Hz) intermittent photic stimulation. Levetiracetam was effective and well tolerated in the 2 treated patients.

Conclusions: early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children.
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http://dx.doi.org/10.1016/j.ejpn.2019.05.012DOI Listing
July 2019

Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

Genomics 2017 10 23;109(5-6):391-400. Epub 2017 Jun 23.

Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Via Massarenti 9, 40138 Bologna (BO), Italy.

Among Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although trisomy 21 is not sufficient to cause CHD, three copies of at least part of chromosome 21 (Hsa21) increases the risk for CHD. In order to establish a genotype-phenotype correlation for CHD in DS, we built an integrated Hsa21 map of all described partial trisomy 21 (PT21) cases with sufficient indications regarding presence or absence of CHD (n=107), focusing on DS PT21 cases. We suggest a DS CHD candidate region on 21q22.2 (0.96Mb), being shared by most PT21 cases with CHD and containing three known protein-coding genes (DSCAM, BACE2, PLAC4) and four known non-coding RNAs (DSCAM-AS1, DSCAM-IT1, LINC00323, MIR3197). The characterization of a DS CHD candidate region provides a useful approach to identify specific genes contributing to the pathology and to orient further investigations and possibly more effective therapy in relation to the multifactorial pathogenesis of CHD.
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http://dx.doi.org/10.1016/j.ygeno.2017.06.004DOI Listing
October 2017

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

Am J Med Genet A 2016 09 29;170(9):2357-64. Epub 2016 Jun 29.

Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.

Pallister-Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described. Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly rotated ears. Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported in the medical literature. The aim of the study was to assess the oro-dental phenotype of PKS and to describe the oral health status in a cohort participating in the First European Workshop on PKS. A clinical dental examination was performed in 21 Caucasian probands and data regarding medical and dental history collected. Twelve probands (57%) showed an atypical dental pattern, with multiple missing teeth (primarily the first permanent molars) and 2 (10%) a double teeth. The severity of gingivitis and dental caries increased with age and gingival overgrowth was a common finding. A characteristic occlusive phenotype was found: a high-arched palate with mandibular prognathism associated with an anterior openbite and crossbite and with posterior crossbite (unilateral or bilateral). The prevalence of oral habits (non-nutritive sucking, mouth breathing, bruxism) was high, even in older probands. This study suggests that individuals affected by PKS should be observed closely for oro-dental diseases and a multidisciplinary approach is needed to implement the right preventive measures. © 2016 Wiley Periodicals, Inc.
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http://dx.doi.org/10.1002/ajmg.a.37815DOI Listing
September 2016

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Hum Mol Genet 2016 06 22;25(12):2525-2538. Epub 2016 Apr 22.

Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Via Massarenti 9, 40138 Bologna, BO, Italy.

A 'Down Syndrome critical region' (DSCR) sufficient to induce the most constant phenotypes of Down syndrome (DS) had been identified by studying partial (segmental) trisomy 21 (PT21) as an interval of 0.6-8.3 Mb within human chromosome 21 (Hsa21), although its existence was later questioned. We propose an innovative, systematic reanalysis of all described PT21 cases (from 1973 to 2015). In particular, we built an integrated, comparative map from 125 cases with or without DS fulfilling stringent cytogenetic and clinical criteria. The map allowed to define or exclude as candidates for DS fine Hsa21 sequence intervals, also integrating duplication copy number variants (CNVs) data. A highly restricted DSCR (HR-DSCR) of only 34 kb on distal 21q22.13 has been identified as the minimal region whose duplication is shared by all DS subjects and is absent in all non-DS subjects. Also being spared by any duplication CNV in healthy subjects, HR-DSCR is proposed as a candidate for the typical DS features, the intellectual disability and some facial phenotypes. HR-DSCR contains no known gene and has relevant homology only to the chimpanzee genome. Searching for HR-DSCR functional loci might become a priority for understanding the fundamental genotype-phenotype relationships in DS.
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http://dx.doi.org/10.1093/hmg/ddw116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181629PMC
June 2016

Implantation of AMS 700 LGX penile prosthesis preserves penile length without the need for penile lengthening procedures.

Asian J Androl 2016 Jan-Feb;18(1):114-7

Department of Urology, Ospedale Cardinal Massaia, ASL AT, Asti, Italy.

Implantation of an inflatable penile prosthesis (IPP) is a well-established definitive solution for erectile dysfunction when conservative treatments fail. Penile implants may shorten the penis. The AMS 700 LGX IPP is in common use but reports on its mechanical reliability, medium-term postsurgical patient satisfaction, and mean penile length preservation are lacking. We investigate the mean penile length, mechanical reliability, and patient satisfaction at 6 and 12 months after implantation of the AMS 700 LGX. This prospective study consecutively enrolled men undergoing first-time IPP implant surgery from February 2009 to April 2012. Stretched flaccid penile length, penile length at 50% and 100% of stiffness (P50 and P100) and International Index of Erectile Function (IIEF) and Erectile Dysfunction Inventory of Treatment Satisfaction (EDITS) scores, were measured at 6 and 12 months postsurgery. Of 45 patients who underwent AMS 700 LGX implantation (median age 61 years) and completed 6 months' follow-up, 36 (80%) completed the study. A significant difference in stretched flaccid penile length was seen between 6 and 12 months (P = 0.033). P100 was also significantly increased at 6 and 12 months, with a mean 10% increase (1.3 ± 0.4 cm) from baseline to 12 months. Differences in mean IIEF scores at 6 and 12 months were significant for the desired domain (P = 0.0001) and for overall satisfaction (P = 0.002); however, mean EDITS scores at 6 and 12 months were not significantly improved. AMS 700 LGX is a powerful tool for preserving penile length in men undergoing penile prosthesis implantation.
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http://dx.doi.org/10.4103/1008-682X.154311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736338PMC
September 2016

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

Am J Med Genet A 2013 Oct 16;161A(10):2652-5. Epub 2013 Aug 16.

Department of Maternal and Paediatric Sciences, Neonatology, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin-girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART-conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long-term follow-up of children conceived using ART.
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http://dx.doi.org/10.1002/ajmg.a.36145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065345PMC
October 2013
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