Laura Lucaccioni

• MD
• RTD-B at University of Modena and Reggio Emilia

Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe mucocutaneous fragility disorder due to mutations in the COL7A1 gene encoding collagen VII, the major constituent of anchoring fibrils essential for epithelial adhesion. RDEB is characterized by unremitting blistering, chronic painful wounds and fibrotic scarring that...

Background: The aim of the study was to evaluate a novel EEG scoring system as a diagnostic and prognostic tool for brain injury in infants who had experienced perinatal asphyxia. Methods: The scoring system, based on a semi-quantitative approach, encompassed seven EEG parameters and their aggregate Dammiss score (DS) measured across seven time poi...

Objectives: The preoperative hormonal treatment (PHT) in eligible patients has the potential to become an asset for the treatment of severe hypospadias. The aim of the paper is to report the preliminary results on tolerability and efficacy of tailored transdermal PHT with testosterone before primary hypospadias repair, resulting by the joint activi...

Purpose Omnitrope® (a somatropin biosimilar), used to treat growth disturbances, is considered to have a good safety profile in children. Here, we present the analysis of final data of the Italian cohort of the PAtients TReated with Omnitrope® (PATRO) Children study. Methods This multicenter, open-label, longitudinal, post-marketing surveillance s...

Minipuberty follows different trends in boys and girls. Aim of our study was to explore timing and dynamics of minipuberty in healthy infants, analyzing urinary levels of sexual hormones. Moreover, we analyzed the association among HPG axis activity and linear growth, ano-genital distances (AGDs) in both sexes, and penile length in males. Longitudi...

Introduction: Minipuberty follows different trends in boys and girls. Aim of our study was to explore timing and dynamics of minipuberty in healthy infants, analyzing urinary levels of sexual hormones. Moreover, we analyzed the association among HPG axis activity and linear growth, ano-genital distances (AGDs) in both sexes, and penile length in ma...

Introduction Maternal pre-pregnancy overweight status might create a chronic systemic inflammatory environment for the foetus, impairing neurons development. The Motor Optimality Score-Revised (MOS-R) is an established tool to assess infant spontaneous movement at 3-5 months helping predict later neurodevelopmental outcomes in infants, including la...

(1) Background: Prematurity is a serious condition associated with long-term neurological disability. This study aimed to compare the neurodevelopmental outcomes of preterm neonates with or without sepsis. (2) Methods: This single-center retrospective case–control study included infants with birth weight < 1500 g and/or gestational age ≤ 30 weeks....

A healthy and balanced diet is crucial for children’s well-being and aids in preventing diet-related illnesses. Furthermore, unhealthy dietary habits indirectly impact children’s health, as the food industry stands as one of the primary drivers of climate change. Evidence shows the Mediterranean diet is sustainable for both children’s and the plane...

Introduction Perinatal asphyxia is one of the three most important causes of neonatal mortality and morbidity. Therapeutic hypothermia represents the standard treatment for infants with moderate-severe perinatal asphyxia, resulting in reduction in the mortality and major neurodevelopmental disability. So far, data in the literature focusing on the...

Objective: The postnatal activation of the hypothalamic-pituitary-gonadal(HPG) axis is usually known as "minipuberty". There are still open questions on its biological activity and significance depending on sex, gestational age(GA) and birth weight(BW) with few longitudinal data. Methods: Single-centre longitudinal study to quantify urinary FSH(...

Introduction: Immune-checkpoint inhibitor therapy modulates the response of the immune system acting against cancer. Two pathways impacted by this kind of treatment are the CTLA4 and the PD-1/PD-L1 pathways. ICI therapy can trigger autoimmune adverse effects, known as immune-related Adverse Events (irAEs). Areas covered: This review focuses on i...

Background Phthalates are non-persistent chemicals largely used as plasticizers and considered ubiquitous pollutants with endocrine disrupting activity. The exposure during sensible temporal windows as pregnancy and early childhood, may influence physiological neurodevelopment. Aims and Scope The aim of this study is to analyze the relationship be...

Birth prior to 37 completed weeks of gestation is referred to as preterm (PT). Premature newborns are at increased risk of developing infections as neonatal immunity is a developing structure. Monocytes, which are key players after birth, activate inflammasomes. Investigations into the identification of innate immune profiles in premature compared...

Background: Skin-to-skin contact (SSC) is one of the four components of kangaroo care (KC) and is also a valued alternative to incubators in low-income countries. SSC has also become a standard of care in high-income countries because of its short- and long-term benefits and its positive effect on infant growth and neurodevelopmental outcome. Howe...

The use of umbilical venous catheters (UVCs) has become the standard of care in the neonatal intensive care unit (NICU) to provide newborns fluids, medications and parenteral nutrition. However, is well known that UVCs can be related to some serious complications, both mechanical and infective, including CLABSI (Central Line-Associated Bloodstream...

Background: The birth of a preterm infant and his/her immediate admittance to the Neonatal Intensive Care Unit (NICU) are sudden, unexpected, stressful and painful events for parents. In the last decade, in response to the increased awareness of the stressful experiences of parents, much attention has been paid to Family-Centered Care (FCC) and the...

Background and Aims: General movements (GMs) have been recognized as the most accurate clinical tools for predicting cerebral palsy (CP). This study aimed to compare the type and prognostic value of abnormal GMs in infants with hypoxic ischemic encephalopathy treated or not with therapeutic hypothermia (TH). Materials and Methods: This was a single...

Background Unbalanced nutrients intake and incorrect weight gain can lead to immediate and future adverse health consequences for both mother and child. The Italian Society of Gynaecology and Obstetrics (SIGO), has drawn up a series of nutritional recommendations with the aim of promoting a correct food intake for future mothers. The purpose of our...

Phthalates are pollutants ubiquitous in the environment. Human exposure to phthalates and their endocrine disrupting effects have been widely studied. Therefore, the European Union forbids phthalates in toys, cosmetic and kitchenware manufacturing. However, phthalate metabolites can still be found in human biological matrices. The purpose of this s...

METHODS This cross-sectional study investigated dietary habits during the last trimester of pregnancy. We evaluated the adherence to dietary SIGO recommendations (by a self-administered questionnaire) of a sample of pregnant women representative of physiologic full-term pregnancies (n=572, mean age 33.4±5.2) living in Modena (Italy), recruited betw...

Background Gonadotropin-releasing hormone analogs (GnRHas) are effective in increasing the final height of children with idiopathic central precocious puberty (ICPP). However, in previous years, some transient metabolic complications have been described during this treatment, for which there are no long-term outcome data. Our study aimed to evaluat...

Preterm birth (PT) is defined as birth before 37 completed weeks of gestation, and it is one of the most frequent pregnancy complications and infections. Understanding susceptibility to infectious disease in preterm infants by identifying alterations in innate immune profile could pave the way to novel clinical intervention. Neonatal immunity is a...

INTRODUZIONE Le restrizioni sociali dovute alla pandemia hanno avuto un impatto sul benessere psicologico delle famiglie, soprattutto in presenza di bambini molto piccoli. Lo scopo di questo studio è di valutare lo stress genitoriale prima e durante la pandemia come misurato dal Parenting Stress Index-Short Form (PSI-SF), questionario validato e s...

Background: Neonatal encephalopathy due to perinatal asphyxia is one of the leading causes of neonatal death and morbidity worldwide. The neurodevelopmental outcomes of asphyxiated neonates have considerably improved after therapeutic hypothermia (TH). The current challenge is to identify all newborns with encephalopathy at risk of cerebral lesions...

Introduction: Extra-uterine growth restriction (EUGR) is a condition caused by the failure of very preterm infants to reach their potential growth during the NICU hospital stay. Despite enormous improvements in nutritional support and strategies, the growth pattern of preterm infants is still far from the one expected. Areas covered: This review...

Septic shock is a main cause of morbidity and mortality in neonates. Septic shock evolves from compensated to uncompensated through 3 distinct phases. Prompt diagnosis is challenging, since neonatal septic shock may overlap with the physiological changes occurring at birth. The outcome of septic shock depends on a prompt recognition of symptoms and...

Objectives: The study aimed to assess and compare the global development in six-month-old infants before and during the pandemic restrictive social distancing measures. Methods: This cross-sectional nested study involved infants assessed through the Griffiths Scales of Child Development (GSCD) between September 2019 and April 2021. Infants were cla...

Prematurity exposes newborns to increased risks of infections and it is associated with critical morbidities. Preterm infants often require antibiotic therapies that can affect the correct establishment of gut microbiota. The aim of this study was to investigate targeted intestinal bacteria in preterm neonates with common morbidities and receiving...

Background: Cerebral sinovenous thrombosis (CSVT) is a rare disease with potential catastrophic consequences. However, neonatal brain damage after venous injury and long-term neurologic outcomes have been poorly investigated. Some found an association between site and number of sinus occlusions, severity of lesions, clinical presentation and the n...

Background: Few studies conducted to date have observed general movements in infants affected by hypoxic–ischemic encephalopathy (HIE) who underwent therapeutic hypothermia. We investigated whether foot-to-foot contact (FF) could support the predictive value of fidgety movements (FMs) in infants affected by HIE and treated with brain cooling. Metho...

Background: Hypospadias is one of the most common congenital abnormalities in male newborn. There is no universal approach to hypospadias surgical repair, with more than 300 corrective procedures described in current literature. The reoperation rate within 6-12 months of the initial surgery is most frequently used as an outcome measure. These shor...

Shock is a generalized tissue hypoperfusion that leads to severe cellular distress and complicates some cases of paediatric and neonatal sepsis. Although a reduction in associated sepsis mortality has been observed in the last decades, it remains one of the most important causes of death or long-term neurodevelopmental disabilities in children. Pro...

Background: Despite the increased survival of preterm newborns worldwide, the risk of neurodevelopmental disabilities remains high. Analyzing the outcomes of the preterm population can identify risk factors and enable specific early interventions. Aims: Neuroprem is a prospective cohort study of very low birth weight (VLBW) infants that aims to eva...

Introduction Therapeutic hypothermia is the standard care for asphyxiated newborns. Discomfort and pain during treatment are common and may affect therapeutic efficacy of hypothermia. Opioid analgosedation is commonly used in the clinical setting, but its effects in the cooled newborns is poorly investigated. Objective The aim of this study was to...

We retrospectively investigated mother-to-infant transmission of group B Streptococcus (GBS) in 98 cases of late-onset disease reported during 2007–2018 by a network in Italy. Mothers with full assessment of vaginal/rectal carriage tested at prenatal screening and at time of late onset (ATLO) were included. Thirty-three mothers (33.7%) were never G...

Group B streptococcus (GBS) infection remains a leading cause of sepsis, pneumonia, and meningitis in infants. Rates of GBS early onset disease have declined following the widcespread use of intrapartum antibiotic prophylaxis; hence, late-onset infections (LOGBS) are currently a common presentation of neonatal GBS dicsease. The pathogenesis, mode o...

Introduction: Polycystic ovary syndrome is characterized by anovulation (amenorrhea, oligomenorrhea, irregular menstrual cycles) combined with symptoms of androgen excess (hirsutism, acne, alopecia). The clear definition and diagnosis in adolescents could be challenging considering that most of symptoms occur as part of the expected physiological...

Background Growing concerns regarding the adverse effects of antibiotics during the first days of life and the marked reduction in the incidence of early-onset sepsis (EOS) are changing the clinical practice for managing neonates at risk of EOS. Strategies avoiding unnecessary antibiotics while promoting mother-infant bonding and breastfeeding dese...

Poland syndrome is a rare congenital disorder characterized by agenesis of the pectoralis major muscle. It is usually unilateral and right-sided and can be associated with several thoracic and upper limb defects. Early diagnosis and timely therapeutic approaches play an important role, improving the quality of life of patients and their families. T...

Objective: This study aims to evaluate safety and success rates of lumbar puncture (LP) and to identify factors associated with adverse events or failure of LP in infants. Methods: This two-center prospective observational study investigated infants younger than 90 days of age who underwent LP. Need for resuscitation oxygen desaturation (SpO 2 < 90...

Background: Bronchiolitis is a common cause of hospitalisation of infants less than a year old, with most infants recovering without complications. Respiratory syncytial virus (RSV) is a leading cause of bronchiolitis. Antimicrobial stewardship programmes do not recommend antibiotics for viral infections in neonates unless documented evidence of s...

Phthalates, as other endocrine disrupting chemicals (EDCs), may alter the homeostasis and the action of hormones and signaling molecules, causing adverse health outcomes. This is true especially for infants, who are both more exposed and sensitive to their effects. Phthalates are particularly harmful when the exposure occurs during certain critical...

There is insufficient data regarding antimicrobial stewardship (AS) and outcomes of very low birth weight (VLBW) neonates after AS programs. This observational, retrospective study addressed AS and outcomes of VLBW neonates admitted to an Italian level-three center. Two periods were compared: (i) baseline, before AS (January 2011–December 2012) and...

Background - In the last few years care for children with severe chronic conditions is a topic of increasing interest. Children with chronic illness often require a high complexity of care and a high level of coordination among health services. Objective - The primary aim of this study is the assessment of children with chronic disease and high com...

Background Movements towards midline are part of the age-adequate motor repertoire of infants. They develop contemporaneously to general movements, changing from occasional simple contact to proper midline motor patterns. Aim The aim of this study is to describe the ontogeny of movements towards midline in full term healthy infants. Study design P...

Hypothalamic-pituitary-gonadal (HPG) axis activation occurs three times in life: the first is during fetal life, and has a crucial role in sex determination, the second time is during the first postnatal months of life, and the third is with the onset of puberty. These windows of activation recall the three windows of the “Developmental Origin of H...

Introduction Children with late fetal growth restriction (FGR) are at high risk of being born small for gestational age (SGA). These categories of newborns are at increased risk for neurodevelopment impairment. The general movements assessment, in particular at fidgety age, has been used to predict neurological dysfunctions. This study aimed to eva...

Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypoplasia syndrome has a broad phe...

Congenital disorders of glycosylation (CDG) are an expanding group of metabolic disorders that result from abnormal protein glycosylation. A special subgroup of CDG type II comprises defects in the Conserved Oligomeric Golgi Complex (COG). In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel...

Background/Objective To minimize the wide spread of coronavirus disease (COVID-19) pandemic, Italy was placed in an almost complete lockdown state that forced people to “stay at home”. Aim of this study was to evaluate the effects of lockdown on glycemic control in children and adolescents with type 1 diabetes (T1D) followed through telemedicine....

Background Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We report on an unusual presentation of Zellweger syndrome manifesting in a newborn with severe and fulminant sepsis, causing death durin...

Background Girls with Turner syndrome (TS) are at an increased risk of primary ovarian insufficiency (POI). Good correlation between serum and urinary gonadotrophins exists in children assessed for disorders of puberty, but there is little evidence of their reliability in hypergonadotropic states. Objectives To determine whether there was a correl...

According to Barker's hypothesis, sub-optimal conditions during gestation might affect the predisposition for diseases in adulthood. Alteration in endocrine functions during pregnancy, such us thyroid function or glucose metabolism, are not exempt. It is well known that subclinical hypothyroidism and thyroperoxidase antibodies-positive euthyroidism...

Current data suggest that during the global pandemic of COVID 19 children are less affected than adults and most of them are asymptomatic or with mild symptoms. However, recently, cases of pediatric patients who have developed severe inflammatory syndrome temporally related to SARS-CoV-2 have been reported both in USA and Europe. These reports, alt...

Due to the current COVID-19 pandemic, worldwide population's lifestyle has changed dramatically, causing psychosocial consequences. Patients presenting a preexisting chronic condition, as Type 1 Diabetes (T1D), are the ones suffering the most from this situation. Moreover, people affected by diabetes are the ones with the worst prognosis, if infect...

Background Phthalates, potential endocrine disruptors added to plastics, are found in numerous products and contaminate many environmental matrices, resulting in a widespread human exposure virtually interfering with fetal and neonatal development. This study aims to evaluate, by repeated mothers and children urine monitoring, the exposure to phtha...

There are increasing concerns regarding coronavirus disease, caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Approaches to breastfeeding and the management of neonates born to pauci-symptomatic mothers with coronavirus disease vary worldwide, although some scientific societies across Europe and the United States ha...

Purpose of review: Health status is the result of complex interaction between individual factors, general environmental factors and specific factors as nutrition or the presence of chemicals. Aim of this review is to point out the more recent knowledge covering the role of the endocrine disrupting chemical (EDC) on pediatric population wellbeing....

EUGR is still a serious problem in very low birth weight preterm infants. The gradual improvement in neonatal intensive care has allowed the survival of newborns with increasing low weight and gestational age, with a higher incidence of major nutritional problems and diseases (Goldenberg 2008). EUGR was defined as growth parameters ≤ 10° centile at...

Objective To determine if the diabetes‐specific health‐related quality of life (D‐HRQOL) of young people with type 1 diabetes (T1D) and their parents is influenced by migrant status. Subjects and Methods One hundred and twenty‐five patients (12.4±3.55 years, males 53.6%) with T1D and their parents (102 mothers, 37 fathers) were enrolled and catego...

Type 1 diabetes (T1D) is the most common chronic metabolic disease in children and adolescents. The etiology of T1D is not fully understood but it seems multifactorial. The genetic background determines the predisposition to develop T1D, while the autoimmune process against β-cells seems to be also determined by environmental triggers, such as endo...

Puberty is the process of physical changes between childhood and adulthood during which adolescents reach sexual maturity and become capable of reproduction. It is considered one of the main temporal windows of susceptibility for the influence of the endocrine-disrupting chemicals (EDCs). EDCs may act as single chemical agents or as chemical mixtur...

Introduction: The survival of preterm babies has increased worldwide, but the risk of neuro-developmental disabilities remains high, which is of concern to both the public and professionals. The early identification of children at risk of neuro-developmental disabilities may increase access to intervention, potentially influencing the outcome. Ai...

Background: Enteroviruses (EVs) are an important cause of illness, especially in neonates and young infants. Clinical and laboratory findings at different ages, brain imaging, and outcomes have been inadequately investigated. Methods: We retrospectively investigated EV infections occurring at an Italian tertiary care center during 2006-2017. Cas...

Purpose of review: Current management approaches for asymptomatic neonates at risk of early onset sepsis remain controversial. Strategies based entirely on clinical observation (SCO, serial clinical observation) have gained consensus. Recent findings: We briefly compare different strategies for managing asymptomatic newborns suggested in four hi...

Introduction: Neonatal sepsis remains a serious and potentially fatal illness. Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcal (GBS) early-onset sepsis. The optimal duration of IAP (adequate IAP) to reduce vertical transmission of GBS has been debated. Understanding the mechanism of action of IAP may help in minimizing neona...

Background Most studies regarding late-onset sepsis (LOS) address selected populations (i.e., neonates with low birth weight or extremely preterm neonates). Studying all age groups is more suitable to assess the burden of single pathogens and their clinical relevance. Methods This is a retrospective regional study involving paediatric departments...

The Prechtl General Movement Assessment (GMA) has become a cornerstone assessment in early identification of cerebral palsy (CP), particularly during the fidgety movement period at 3– 5 months of age. Additionally, assessment of motor repertoire, such as antigravity movements and postural patterns, which form the Motor Optimality Score (MOS), may p...

Understanding early preterm infants’ strengths, vulnerabilities, thresholds to stress and disorganization, and behavioural state regulation is of great importance in view of the daily care in the NICU and stabilization of preterm infants. Preterm infants display observable behaviours along three main systems: the autonomic, the motor and the state...

We describe the case of a neonate with signs of heart failure. Echocardiography showed a structural normal heart shape with left ventricular dysfunction. At 2 months of age a vein of Galen arteriovenous malformation was diagnosed through a brain magnetic resonance imaging. Embolization therapy was accomplished and a clinical and neurological follow...

In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to pyridoxal-phosphate. However, among pyridoxine-responsive patients with PNPO gene mutation, there ar...

General movements (GMs) in combination with neurological examination and magnetic resonance imaging at term age can accurately determine the risk of cerebral palsy. The present study aimed to assess whether 11 motor and postural patterns concomitant with GMs were associated with cerebral palsy. Video recordings performed after birth in 79 preterm i...

Purpose: Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcus (GBS) early-onset disease (EOD). No European study evaluates the relative impact of risk factors (RFs) for EOD after a screening-based strategy and widespread IAP use We aimed to evaluate the risks of EOD in an Italian region where a screening-based strategy for preven...

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism...

Neonatologia L e Early Onset Sepsis (EOS) sono in-fezioni batteriche invasive che esordiscono nelle prime 72 ore di vita, provocate dalla trasmissione intrapar-tum di patogeni presenti nel tratto ge-nito-urinario materno. Nei Paesi ad alto reddito i patogeni più comunemente responsabili di EOS sono lo strepto-cocco di gruppo B (SGB) ed Escheri-chia...

Neonatologia L e Early Onset Sepsis (EOS) sono in-fezioni batteriche invasive che esordiscono nelle prime 72 ore di vita, provocate dalla trasmissione intrapar-tum di patogeni presenti nel tratto ge-nito-urinario materno. Nei Paesi ad alto reddito i patogeni più comunemente responsabili di EOS sono lo strepto-cocco di gruppo B (SGB) ed Escheri-chia...

Background: Non-typhoid Salmonella (NTS) is an important cause of bacterial meningitis in newborn and infants in developing countries, but rarely in industrialized ones. We describe an unusual presentation of bacterial meningitis in an infant, focusing on his diagnostic and therapeutic management. Case report: An Italian two-month old male prese...

Introduction: Distal renal tubular acidosis is a rare genetic disease, characterised by deficit in renal tubular transport. Clinical features are metabolic acidosis with hypercloraemia and hypokalemia, and inability in urine acidification. Hypercalciuria may also be present, often treated with the use of a diuretic therapy with thiazides. Case pr...

Aim Preterm births (<32 weeks of gestational age) are associated with cognitive problems that are difficult to diagnose in infancy but potentially detectable at preschool age. This review aimed to evaluate the extent to which total intelligence quotient (IQ) and neuropsychological functions at ages three to five years differ between children born a...

Background International guidelines lack a substantial consensus regarding management of asymptomatic full-term and late preterm neonates at risk for early-onset disease (EOS). Large cohorts of newborns are suitable to increase the understanding of the safety and efficacy of a given strategy. Methods This is a prospective, area-based, cohort study...

Early onset sepsis 2003–2016. (XLS)

Plain-language-summary Congenital cytomegalovirus infection is considered the main cause of infantile non-genetic neurosensory hearing loss. Although this correlation was described more than 50 years ago, the natural history of internal ear involvement has not yet been fully defined. Hearing loss is the most frequent sequela and is seen in a variab...

Background Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the...