Publications by authors named "Lorenzo Iughetti"

158 Publications

Internal Carotid Dissection as the Cause of Stroke in Childhood.

Case Rep Pediatr 2021 28;2021:5568827. Epub 2021 Jun 28.

Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, Largo del Pozzo 71-41124, Modena, Italy.

Internal carotid artery (ICA) dissection is a cause of stroke, but it is often underdiagnosed in children. ICAs' risk factors and pathogenic mechanisms are poorly understood, and the treatment is still empirical. We report the case of a previously healthy 9-year-old girl who presented with involuntary hypertonic closure of the right hand associated with transient difficulty for both fine movements of the right arm and speech. She had a history of minor cervical trauma occurring 20 days prior to our observation without other associated risk factors. Magnetic resonance imaging and magnetic resonance angiography showed ischemic lesions due to the left ICA dissection. Treatment with both acetylsalicylic acid and levetiracetam allowed recanalization of the ICA associated with the resolution of clinical signs. Our clinical case suggests that the ICA dissection must be suspected early whenever a child manifests mild neurologic deficits after a cervical trauma, especially if they are associated with headache and/or cervical pain. Moreover, the management of ICA dissection must be improved.
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http://dx.doi.org/10.1155/2021/5568827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261171PMC
June 2021

Safety and Success of Lumbar Puncture in Young Infants: A Prospective Observational Study.

Front Pediatr 2021 14;9:692652. Epub 2021 Jun 14.

Neonatal Intensive Care Unit, Women's and Children's Health Department, University Hospital of Modena, Modena, Italy.

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. This two-center prospective observational study investigated infants younger than 90 days of age who underwent LP. Need for resuscitation oxygen desaturation (SpO < 90%), bradycardia and intraventricular hemorrhage were considered adverse events. LP failed if cerebrospinal spinal fluid was not collected or had traces of blood. Logistic regression analysis was used to evaluate whether corrected gestational age (GA), body weight at LP, position, and any respiratory support during LP affected SpO desaturation or failure of LP. Among 204 LPs, 134 were performed in full-term and 70 in pre-term born infants. SpO desaturations occurred during 45 (22.4%) LPs. At multivariate analysis, lower GA at LP ( < 0.001), non-invasive respiratory support ( 0.007) and mechanical ventilation ( 0.004) were associated with SpO desaturations. Transient, self-resolving bradycardia occurred in 7 (3.4%) infants. Two infants had intraventricular hemorrhage detected within 72 h of LP. No further adverse events were registered. Failure of LP occurred in 38.2% of cases and was not associated with any of the factors evaluated. LP was safe in most infants. Body weight or GA at LP did not affect LP failure. These data are useful to clinicians, providing information on the safety of the procedure.
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http://dx.doi.org/10.3389/fped.2021.692652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240589PMC
June 2021

Italian COVID-19 epidemic: effects on paediatric emergency attendance-a survey in the Emilia Romagna region.

BMJ Paediatr Open 2020 20;4(1):e000742. Epub 2020 Jul 20.

Paediatrics & Neonatology Unit, Guglielmo da Saliceto City Hospital, Piacenza, Italy.

Objective: To evaluate the effect of the COVID-19 epidemic on paediatric emergency department (ED) attendance in a region of Northern Italy.

Methods: A survey was proposed to six out of nine paediatric EDs in the Emilia Romagna region to evaluate attendance data, distribution by age and gender, triage code score, outcome of clinical course, number of hospitalisations and the distribution of patients by disease. Data were collected during March 2020 and compared with that of March 2019.

Results: A drop in paediatric ED attendance of more than 83.8% was observed, with a higher percentage of infants and severe triage scores. The proportion of patients hospitalised was significantly higher in 2020 than in 2019 (p value: <0.001). The effect size for the comparison of proportions of hospitalised patients was 0.379. Looking at the distribution of attendance by type of disease, a significantly different distribution was highlighted (p value: <0.00001, Cramer's V); there was a greater proportion of patients presenting to paediatric EDs with poisonings (effect size=0.07), psychiatric pathologies (effect size=0.110), head injuries (effect size=0.167) and fever (effect size=0.212).

Conclusions: Our survey suggests that in the first month of the COVID-19 epidemic in Italy, there has been an increase in delayed attendance and provision of care of potentially severe diseases in paediatric EDs. Hospital and community paediatricians should be aware of this phenomenon and adopt appropriate strategies to prevent this danger, as it may affect children more seriously than COVID-19 itself.
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http://dx.doi.org/10.1136/bmjpo-2020-000742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385746PMC
July 2020

Pediatric inflammatory multisystem disease in children with COVID-19 - Reply.

Authors:
Lorenzo Iughetti

Acta Biomed 2021 05 12;92(2):e2021017. Epub 2021 May 12.

Pediatric Unit, Departmente of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia.

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http://dx.doi.org/10.23750/abm.v92i2.10801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182617PMC
May 2021

Pneumococcal septic shock after neonatal respiratory syncytial virus bronchiolitis: A case report and literature review.

Acta Biomed 2021 04 30;92(S1):e2021111. Epub 2021 Apr 30.

UO di Terapia Intensiva Neonatale, Dipartimento di Scienze Mediche e Chirurgiche Materno-Infantili e dell'Adulto, AOU Policlinico di Modena, Modena.

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 secondary bacterial infection is present.

Case Report: We present the case of a 7-day-old infant admitted to hospital with chest retractions and fever. The baby was hospitalised, empirical antibiotic therapy was administered, and non-invasive ventilation was started. When the viral aetiology was identified and clinical conditions improved, antibiotics were discontinued. However, after 48 hours, the newborn's condition worsened because of pneumococcal septic shock. Intravenous fluids, catecholamine support, and wide-spectrum antibiotics were administered. Non-invasive ventilation was re-started and continued until the full recovery.

Conclusions: There is increasing evidence that RSV and S. pneumoniae co-infect and interact with each other, thus increasing respiratory diseases' severity. We provide a brief overview of the main international guidelines for managing bronchiolitis. Guidelines suggest avoidance of antibiotics use when the diagnosis of viral bronchiolitis is confirmed. We discuss the uncertainties regarding antibiotic use, especially in younger infants, who are more exposed to risks of bacterial superinfection.
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http://dx.doi.org/10.23750/abm.v92iS1.11209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142759PMC
April 2021

Perinatal Exposure to Phthalates: From Endocrine to Neurodevelopment Effects.

Int J Mol Sci 2021 Apr 14;22(8). Epub 2021 Apr 14.

Pediatric Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, 41124 Modena, Italy.

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 temporal windows of the development, such as the prenatal and the early postnatal phases. Phthalates may also interfere with the neuroendocrine systems (e.g., thyroid hormone signaling or metabolism), causing disruption of neuronal differentiation and maturation, increasing the risk of behavioral and cognitive disorders (ADHD and autistic behaviors, reduced mental, psychomotor, and IQ development, and emotional problems). Despite more studies being needed to better understand the role of these substances, plenty of evidence suggests the impact of phthalates on the neuroendocrine system development and function. This review aims to update the knowledge on the neuroendocrine consequences of neonatal and perinatal exposure to phthalates.
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http://dx.doi.org/10.3390/ijms22084063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8070995PMC
April 2021

Antibiotic Use in Very Low Birth Weight Neonates After an Antimicrobial Stewardship Program.

Antibiotics (Basel) 2021 Apr 9;10(4). Epub 2021 Apr 9.

Neonatal Intensive Care Unit, University Hospital of Modena and Reggio Emilia, 41121 Modena, Italy.

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 (ii) intervention, after AS (January 2016-December 2017). Between these two periods, procedures were put in place to inform medical and nursing staff regarding AS. There were 111 and 119 VLBW neonates in the baseline (6744 live births) and in the intervention period (5902 live births), respectively. The number of infants exposed to antibiotics (70%) during the hospital stay did not change, but the total days of therapy (DOT, median 12 vs. 5) and DOT/1000 patient days (302 vs. 215) decreased in the intervention period ( < 0.01), as well as the median duration of first antibiotic treatment (144 vs. 48 h, < 0.01). A re-analysis of single cases of culture-proven or culture-negative sepsis failed to demonstrate any association between deaths and a delay or insufficient antibiotic use in the intervention period. In conclusion, AS is feasible in preterm VLBW neonates and antibiotic use can be safely reduced.
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http://dx.doi.org/10.3390/antibiotics10040411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8070476PMC
April 2021

COVID-19 Management in the Pediatric Age: Consensus Document of the COVID-19 Working Group in Paediatrics of the Emilia-Romagna Region (RE-CO-Ped), Italy.

Int J Environ Res Public Health 2021 04 8;18(8). Epub 2021 Apr 8.

Paediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.

Since December 2019, coronavirus disease (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread, becoming the first pandemic of the 21st century by number of deaths (over 2,000,000 worldwide). Many aspects of SARS-CoV-2 infection in children and adolescents remain unclear, and optimal treatment has not yet been defined. Therefore, our goal was to develop a consensus document, practically synthesizing the accumulated data and clinical experience of our expert group. Literature research was carried out using the keywords "COVID-19" or "SARS-CoV-2" and "children" or "pediatrics" and "prevention" or "diagnosis" or "MIS-C" or "treatment" in electronic databases (MEDLINE, PUBMED), existing guidelines and gray literature. The fact that the majority of the problems posed by SARS-CoV-2 infection in pediatric age do not need hospital care and that, therefore, infected children and adolescents can be managed at home highlights the need for a strengthening of territorial pediatric structures. The sharing of hospitalization and therapeutic management criteria for severe cases between professionals is essential to ensure a fair approach based on the best available knowledge. Moreover, the activity of social and health professionals must also include the description, management and limitation of psychophysical-relational damage resulting from the SARS-CoV-2 pandemic on the health of children and adolescents, whether or not affected by COVID-19. Due to the characteristics of COVID-19 pathology in pediatric age, the importance of strengthening the network between hospital and territorial pediatrics, school, educational, social and family personnel both for strictly clinical management and for the reduction in discomfort, with priority in children of more frail families, represents a priority.
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http://dx.doi.org/10.3390/ijerph18083919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068343PMC
April 2021

Long term outcomes of infants born by mothers with thyroid dysfunction during pregnancy.

Acta Biomed 2020 09 15;92(1):e2021010. Epub 2020 Sep 15.

Universiry of Modena and Reggio Emilia.

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 during early pregnancy are associated with increased risk of gestational diabetes mellitus and both conditions influence pregnancy outcome and newborn development and metabolism at short and long terms. Fetal production of thyroid hormones starts from the 12th week of gestational age. The transplacental passage of maternal thyroxine (T4) is therefore essential for the fetal neurological development, especially during the first half of pregnancy.  If this passage is interrupted, such as in premature birth, neonates are more susceptible to develop impaired thyroid function, because of physiological immaturity of their hypothalamic-pituitary-thyroid axis, acute illnesses and stressful events (sepsis, invasive procedures, drugs). The aim of this review is to investigate the short and long term effects of maternal dysthyroidisms on term and preterm newborns, with particular attention to the metabolic and thyroid consequences. Metabolic syndrome, higher body mass index and greater waist circumference, seem to be more prevalent in children of TPO-Ab-positive mothers. Maternal hypothyroidism may be associated with higher risk of gestational diabetes and adverse birth outcomes, such as preeclampsia, preterm delivery, fetal death and low birth weight offspring.  In adulthood, preterm (< 37 weeks of gestational age) or low birth weight (<2.500 g) newborns  seem to be more susceptible to develop gestational diabetes, preeclampsia, type 2 diabetes mellitus and behavioral alterations.
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http://dx.doi.org/10.23750/abm.v92i1.9696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7975942PMC
September 2020

Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes.

Nutrients 2021 Feb 27;13(3). Epub 2021 Feb 27.

Hepatology Gastroenterology and Nutrition Unit, "Bambino Gesù" Children Hospital, 00165 Rome, Italy.

Background: Intestinal failure (IF) is defined as reduction in functioning gut mass below the minimal amount necessary for adequate digestion and absorption. In most cases, IF results from intrinsic diseases of the gastrointestinal tract (digestive IF) (DIF); few cases arise from digestive vascular components, gut annexed (liver and pancreas) and extra-digestive organs or from systemic diseases (non-digestive IF) (NDIF). The present review revised etiology and treatments of DIF and NDIF, with special focus on the pathophysiological mechanisms, whereby NDIF develops.

Methods: We performed a comprehensive search of published literature from January 2010 to the present by selecting the following search strings: "intestinal failure" OR "home parenteral nutrition" OR "short bowel syndrome" OR "chronic pseudo-obstruction" OR "chronic intestinal pseudo-obstruction" OR "autoimmune enteropathy" OR "long-term parenteral nutrition".

Results: We collected overall 1656 patients with well-documented etiology of IF: 1419 with DIF (86%) and 237 with NDIF (14%), 55% males and 45% females. Among DIF cases, 66% had SBS and among NDIF cases 90% had malabsorption/maldigestion.

Conclusions: The improved availability of diagnostic and therapeutic tools has increased prevalence and life expectancy of rare and severe diseases responsible for IF. The present review greatly expands the spectrum of knowledge on the pathophysiological mechanisms through which the diseases not strictly affecting the intestine can cause IF. In view of the rarity of the majority of pediatric IF diseases, the development of IF Registries is strongly required; in fact, through information flow within the network, the Registries could improve IF knowledge and management.
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http://dx.doi.org/10.3390/nu13030786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997222PMC
February 2021

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

Eur J Endocrinol 2021 Apr;184(4):575-585

Department of Pediatrics, University of Rome Sapienza, Rome, Italy.

Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features.

Design: Retrospective analysis of the Italian data set of patients with TNDM.

Methods: Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared.

Results: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy.

Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.
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http://dx.doi.org/10.1530/EJE-20-1030DOI Listing
April 2021

The ontogeny of limbs movements towards midline in healthy infants born at term.

Early Hum Dev 2021 Apr 4;155:105324. Epub 2021 Feb 4.

Neonatal Intensive Care Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Italy.

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: Parents were asked to record their infant every second week, from term age to 22 weeks post-term.

Subjects: 25 healthy full-term infants.

Results: Three main epochs of development were detected: in the first one, between birth and 4 weeks post-term, movements towards midline were occasional, apparently due to the dominant flexed posture of elbow and knees and the adducted posture of shoulders and hips. In the second epoch, from 4 to 8 weeks, the limbs movements towards midline markedly decreased. In the third one, after 8 weeks, movements towards midline increased again in frequency, first appearing in lower limbs then in upper limbs, first solely as contact and thereafter as manipulation. A temporal overlapping with the occurrence of intermittent or continual fidgety movements was detected.

Conclusions: Movements towards midline progressively change, through a defined timeline, in full term healthy infants. The increased knowledge about the normal age-adequate motor repertoire can help physicians in clinical assessment of high risk infants.
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http://dx.doi.org/10.1016/j.earlhumdev.2021.105324DOI Listing
April 2021

Minipuberty: Looking Back to Understand Moving Forward.

Front Pediatr 2020 18;8:612235. Epub 2021 Jan 18.

Pediatric Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

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 Health and Disease" (DOHaD) paradigm and may play a substantial role in several aspects of human development, such as growth, behavior, and neurodevelopment. From the second trimester of pregnancy there is a peak in gonadotropin levels, followed by a decrease toward term and complete suppression at birth. This is due to the negative feedback of placental estrogens. Studies have shown that in this prenatal HPG axis activation, gonadotropin levels display a sex-related pattern which plays a crucial role in sex differentiation of internal and external genitalia. Soon after birth, there is a new increase in LH, FSH, and sex hormone concentrations, both in males and females, due to HPG re-activation. This postnatal activation is known as "minipuberty." The HPG axis activity in infancy demonstrates a pulsatile pattern with hormone levels similar to those of true puberty. We review the studies on the changes of these hormones in infancy and their influence on several aspects of future development, from linear growth to fertility and neurobehavior.
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http://dx.doi.org/10.3389/fped.2020.612235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7848193PMC
January 2021

Perimyocarditis as first sign of systemic onset juvenile idiopathic arthritis treated successfully with anakinra: a case-based review.

Acta Biomed 2020 09 15;91(4):ahead of print. Epub 2020 Sep 15.

Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.

Background: The involvement of myocardium and pericardium at the same time is very uncommon as first manifestation of juvenile idiopathic arthritis with systemic onset (soJIA).

Case: A fourteen years-old boy, referred with symptoms of acute gastroenteritis, developed a perimyocarditis as first manifestation of  Still's Disease, after only one day from the admission. The rheumatologic disease was not responding to glucocorticoid treatment. The use of anakinra was the key point of the therapy and after its administration the patient started to recover fastly.

Conclusions: This case report describes cardiac involvement as first sign of soJIA and the successful use of anakinra inducing remission of soJIA not-responding to steroid therapy.
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http://dx.doi.org/10.23750/abm.v91i4.9093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927544PMC
September 2020

Subtle impairment of neurodevelopment in infants with late fetal growth restriction.

J Matern Fetal Neonatal Med 2021 Jan 17:1-8. Epub 2021 Jan 17.

Neonatal Intensive Care Unit, Department of Clinical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

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 evaluate growth recovery, presence of fidgety movements at 3 months, and neurodevelopmental outcome at 2 years of age in term late FGR infants and adequate for gestational age (AGA) controls.

Methods: Prospective clinical evaluation. At 3 months auxological parameters (AP) and neurological examination were evaluated while at 24 months neurodevelopment outcome by Griffiths Mental Development Scales (GMDS-R) was evaluated.

Results: 38 late FGR and 20 AGA controls completed the study. Despite a significant catch up, at 3 months 13% of late FGR presented at least one auxological parameter <3° percentile. Moreover, 23.7% of late FGR infants did not show fidgety movements compared to 100% AGA controls ( < .001). Cranial circumference at birth resulted a positive predictive factor for FMs ( = .039). At 2 years of age, a difference statistically significant between late FGR and AGA was detected in GMDS-R.

Conclusion: Independently from growth recovery, fidgety movements resulted less expressed in late FGR infants, and at 2 years of age the neurodevelopmental assessment revealed differences in each domain of evaluation between late FGR and AGA infants, although within normal ranges.
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http://dx.doi.org/10.1080/14767058.2021.1873267DOI Listing
January 2021

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

Eur J Med Genet 2021 Feb 12;64(2):104136. Epub 2021 Jan 12.

Post-graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.

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 phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. Although it is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.
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http://dx.doi.org/10.1016/j.ejmg.2021.104136DOI Listing
February 2021

Glycemic Control Improvement in Italian Children and Adolescents With Type 1 Diabetes Followed Through Telemedicine During Lockdown Due to the COVID-19 Pandemic.

Front Endocrinol (Lausanne) 2020 7;11:595735. Epub 2020 Dec 7.

Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

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.

Subjects/methods: This observational study involved patients with T1D using the real-time continuous glucose monitoring (CGM) Dexcom G6. Ambulatory glucose profile data from the 3-months before schools closure (November 26, 2019-February 23, 2020; T0) and from the 3-months of consecutive lockdown (February 24-May 18, 2020; T1) were compared.

Results: Sixty-two children and adolescents (11.1 ± 4.37 years, 50% males) with T1D (median time disease 3.67 years) were enrolled in the study. Insulin total daily dose was unchanged, while time spent on physical activities was decreased (p<0.0001). Despite the lack of statistical significance, median value of the glucose management indicator decreased from 7.4% to 7.25%. Glucose standard deviation (p<0.0001) and coefficient of variation (p=0.001) improved across the study. Median time in range increased from 60.5% to 63.5% (p=0.008), time above range decreased from 37.3% to 34.1% (p=0.048), and time below range decreased from 1.85% to 1.45% (p=0.001).

Conclusions: Overall, in our children and adolescents with T1D glycemic control improved during lockdown. Despite patients were confined to their homes and limited to exercise, our data suggest that the use of real-time CGM, the continuous parental management, and the telemedicine can display beneficial effects on T1D care.
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http://dx.doi.org/10.3389/fendo.2020.595735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793913PMC
January 2021

Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.

Am J Med Genet A 2021 04 4;185(4):1187-1194. Epub 2021 Jan 4.

Neonatology Unit, Mother-Child Department, University Hospital of Modena, Modena, Italy.

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 variant of COG6 gene found in homozygosity in a Moroccan patient with severe presentation of COG6-CDG (OMIM #614576). We compared the phenotype of our patient with other previously reported COG6-CDG cases. Common features in COG6-CDG are facial dysmorphism, growth retardation, microcephaly, developmental disability, liver or gastrointestinal disease, recurrent infections, hypohidrosis/hyperthermia. In addition to these phenotypic features, our patient exhibited a disorder of sexual differentiation, which has rarely been reported in COG6-CDG. We hypothesize that the severe COG6 gene mutation interferes with glycosylation of a disintegrin and metalloprotease family members, inhibiting the correct gonadal distal tip cells migration, fundamental for the genitalia morphogenesis. This report broadens the genetic and phenotypic spectrum of COG6-CDG and provides further supportive evidence that COG6-CDG can present as a disorder of sexual differentiation.
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http://dx.doi.org/10.1002/ajmg.a.62061DOI Listing
April 2021

Spectrum of cardiovascular diseases in children during high peak COVID-19 period infection in Northern Italy: is there a link?

J Pediatric Infect Dis Soc 2020 Dec 6. Epub 2020 Dec 6.

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

Background: Children with COVID-19 have a milder clinical course than adults. We describe the spectrum of cardiovascular manifestations during a COVID-19 outbreak in Emilia-Romagna, Italy.

Methods: Cross-sectional multicenter study including all diagnosis of KD, myocarditis and multisystem inflammatory syndrome in children (MIS-C) from February to April,2020. KD patients were compared to those diagnosed before the epidemic.

Results: KD: 8 patients (6/8 boys, all negative for SARS-CoV-2); complete presentation in 5/8; 7/8 IVIG-responders; 3/8 showed transient coronary lesions (CALs).

Myocarditis: one 5-year-old girl negative for SARS-CoV-2, positive for Parvovirus B19. She responded to IVIG.

Mis-c: 4 SARS-CoV-2 positive boys (3 patients with positive swab and serology, 1 patient with negative swab and positive serology). Three presented myocardial dysfunction and pericardial effusion, one developed multicoronary aneurysms and hyperinflammation; all responded to treatment. The fourth boy had mitral and aortic regurgitation that rapidly regressed after steroids.

Conclusions: KD, myocarditis and MIS-C were distinguishable cardiovascular manifestations. KD did not show a more aggressive form compared to previous years: coronary involvement was frequent, but always transient. MIS-C and myocarditis rapidly responded to treatment without cardiac sequelae despite high markers of myocardial injury at onset suggesting a myocardial depression due to systemic inflammation rather than focal necrosis. Evidence of actual or previous SARS-CoV-2 infection was documented only in patients with MIS-C.
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http://dx.doi.org/10.1093/jpids/piaa162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7798942PMC
December 2020

Grisel's Syndrome in Children: Two Case Reports and Systematic Review of the Literature.

Case Rep Pediatr 2020 12;2020:8819758. Epub 2020 Nov 12.

Post-Graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother Children and Adults, University of Modena and Reggio Emilia, Via Del Pozzo 71, Modena 41124, Italy.

. Grisel's syndrome is a rare syndrome characterized by nontraumatic rotatory subluxation of the atlantoaxial joint. It usually affects children and typically presents with torticollis after ear, nose, and throat (ENT) surgery or head and neck infections. In the pediatric literature, there is only a small amount of available data; moreover, no systematic review has been previously done with focus on the pediatric population. We report our experience of two cases, and we provide a systematic review on Grisel's syndrome in children in order to offer a deeper insight about its clinical presentation, its current diagnosis, and principles of treatment. . We describe two boys of 9 and 8 years old, who developed atlantoaxial subluxation after adenoidectomy. Considering the early diagnosis, a conservative treatment was chosen, with no recurrence and no sequelae at follow-up. We identified 114 case reports, of which 90 describe children, for a total of 171 pediatric patients. Of the 154 cases in which cause was reported, 59.7% presented a head and neck infection and 35.7% had previous head and neck surgery. There is no sex prevalence (49.7% males versus 50.2% females). Mean delay in diagnosis is 33 days. Eight % of the patients had neurological impairment of the 165 cases which mentioned treatment, 96% underwent a conservative treatment, of whom the 8.8% recurred with the need of surgery. As a whole, 12% underwent surgery as a first- or second-line treatment. 3 6% of the patients whose follow-up was reported developed a sequela, minor limitation of neck movement being the most frequent. . Grisel's syndrome should be suspected in children with painful unresponsive torticollis following ENT procedures or head and neck inflammation. CT scan with 3D reconstruction is the gold standard for diagnosis, allowing the identification of the subluxation and the classification according to the Fielding-Hawkins grading system. Surgical treatment is indicated in case of high-grade instability or failure of conservative treatment. Review of the literature shows how early diagnosis based on clinical and radiological evaluation is crucial in order to avoid surgical treatment and neurologic sequelae.
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http://dx.doi.org/10.1155/2020/8819758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676959PMC
November 2020

Markers of Inflammation and Endothelial Dysfunction in Young Survivors from Acute Lymphoblastic Leukemia.

J Adolesc Young Adult Oncol 2020 Nov 25. Epub 2020 Nov 25.

Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

To assess subclinical markers of endothelial inflammation in young survivors from acute lymphoblastic leukemia (ALL) treated with chemotherapy without cranial irradiation. Anthropometric parameters [height (H), body mass index (BMI), waist circumference (WC), hip circumference (HC), WC/H, and WC/HC ratio], blood pressure, lipid profile, serum markers of inflammation and endothelial dysfunction [Interleukin 6 (IL-6), vascular cell adhesion molecule, intercellular adhesion molecule, tumor necrosis factor-alfa (TNF-α), Endogenous secretory Receptor for Advanced Glycation Endproducts (Es-RAGE)], and carotid intima-media thickness (c-IMT) were assessed in a group of young ALL survivors and in matched controls. Local Ethics Committee approved the study (code 56/13) on June 24, 2013. 28 ALL survivors (71% male, 18% prepubertal, aged 15.98 ± 4.41 years, mean follow-up 8.57 ± 3.14 years) exhibited lower levels of Es-RAGE than controls (0.18 ± 0.07 vs. 0.27 ± 0.08 ng/mL,  < 0.001). Among survivors, Es-RAGE values significantly correlated with BMI-SD off-therapy ( -0.42), WC/H ratio ( -0.41), WC/HC ratio ( -0.38), and low-density-lipoprotein cholesterol (LDL-C; -0.43). Most of the ALL survivors (78%) presented c-IMT above the 95th centile if compared with gender and age standard. Mean c-IMT value correlated with blood pressure ( 0.56) and with LDL-C levels ( 0.56). Metabolic syndrome (MetS) was fully detected only in one ALL survivor. Nevertheless, 18% ALL survivors presented more than one MetS diagnostic criteria: 14% insulin resistance, 25% dyslipidemia, and 17.8% hypertension. We demonstrated an initial functional vascular alteration in young ALL survivors even when treated with standard risk protocols. Our data already support the activation at endothelial level of glycosylation and oxidation processes that are persistent long after the end of the treatment.
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http://dx.doi.org/10.1089/jayao.2020.0114DOI Listing
November 2020

Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report.

BMC Med Genet 2020 11 19;21(1):229. Epub 2020 Nov 19.

Neonatal Intensive Care Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124, Modena, Italy.

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 during the neonatal period.

Case Presentation: A term male Caucasian neonate presented at birth with hypotonia and poor feeding associated with dysmorphic craniofacial features and skeletal abnormalities. Blood tests showed progressive leukopenia; ultrasounds revealed cerebral and renal abnormalities. He died on the fourth day of life because of an irreversible Gram-negative sepsis. Post-mortem tests on blood and urine samples showed biochemical alterations suggestive of ZS confirmed by genetic test.

Conclusions: ZS is an early and severe forms of PBDs. Peroxisomes are known to be involved in lipid metabolism, but recent studies suggest their fundamental role in modulating immune response and inflammation. In case of clinical suspicion of ZS it is important to focus the attention on the prevention and management of infections that can rapidly progress to death.
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http://dx.doi.org/10.1186/s12881-020-01175-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678176PMC
November 2020

Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome.

J Pediatr Endocrinol Metab 2020 Nov;33(11):1373-1381

Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK.

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 correlation between serum and urinary Luteinising Hormone (uLH) and Follicle-Stimulating Hormone (uFSH) in hypergonadotrophic states, and whether uFSH could suggest an ovarian failure in TS as Anti-Mullerian Hormone (AMH). Patients and Methods Retrospective cohort study of 37 TS girls attending the paediatric TS clinic in Glasgow between February 2015 and January 2019, in whom 96 non-timed spot urine samples were available with a median age at time of sample of 12.89 years (3.07-20.2 years). uLH and uFSH were measured by chemiluminescent microparticle immunoassay. Simultaneous serum gonadotrophins and AMH were available in 30 and 26 girls, respectively. AMH <4 pmol/L was considered indicative of ovarian failure. Results A strong correlation was found between serum LH and uLH (r 0.860, P<0.001) and serum FSH and uFSH (r 0.905, p<0.001). Among patients≥10 years not on oestrogen replacement, ROC curve identified uFSH as a reasonable marker for AMH<4 pmol/L uFSH of >10.85 U/L indicates an AMH <4 pmol/L with 75% sensitivity and 100 % specificity (AUC 0.875)with similar ability as serum FSH (AUC 0.906). Conclusion uLH and uFSH are non-invasive, useful and reliable markers of ovarian activity in hypergonadotropic states as TS. uFSH could provide an alternative to AMH (in centres which are limited by availability or cost) in revealing ovarian failure and requirement for oestrogen replacement in pubertal induction.
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http://dx.doi.org/10.1515/jpem-2020-0170DOI Listing
November 2020

Non-coronary cardiac events, younger age, and IVIG unresponsiveness increase the risk for coronary aneurysms in Italian children with Kawasaki disease.

Clin Rheumatol 2021 Apr 16;40(4):1507-1514. Epub 2020 Sep 16.

Department of Pediatrics, S.Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 11, 40138, Bologna, Italy.

Objectives: Kawasaki disease (KD) is the most frequent cause of acquired heart disease in children in high-income countries because of coronary artery involvement. Risk factors for coronary lesions can vary in consideration of different genetic background and environmental factors.

Methods: Multicenter retrospective and prospective study including 372 consecutive children (58% boys; mean age 34.3 ± 30.3 months, Caucasian 85%) was diagnosed with KD. We divided the cohort into 2 groups according to the presence of coronary anomalies (CAA) and aneurysms. We compared the groups and studied the risk factors for CAA and for aneurysms, the most severe lesions.

Results: Children with CAA were 91/372 (24.46%, aneurysms 20/372, 5.37%). Children with CAA were more likely to have a longer duration of fever (p < 0.001), later day of treatment (p < 0.001), to be IVIG non-responders and late treated (p < 0.001), while age, clinical presentation, and seasonality were not different. They also had significantly higher WBC and neutrophils, lower lymphocytes, Hb and Na during the acute stage, and slower resolution of inflammation. Age, IVIG unresponsiveness, and presence of non-coronary cardiac findings were independent risk factors for CAA and for aneurysms, while neutrophils just for CAA. Age under 6 months was a risk factor for the aneurysm. Aneurysms occurred more frequently in the first quartile of the age of KD onset (under 14 months).

Conclusion: Very young children with non-coronary cardiac findings are at increased risk for a more severe form of KD with aneurysms. These children could benefit from adjunctive therapy beside IVIG, especially if they have higher markers of inflammation, particularly neutrophils. Key points • Risk factors for coronary lesions can vary in consideration of different genetic background and environmental factors. • Risk factors for coronary involvement have been extensively studied in the Asian population, and others have been validated in cohorts with mixed ethnicities. • In our predominantly Caucasian population, non-coronary cardiac findings, age younger than 6 months, and IVIG unresponsiveness are independent risk factors for a more severe form of KD with aneurysms.
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http://dx.doi.org/10.1007/s10067-020-05331-wDOI Listing
April 2021

The "perfect" storm: Current evidence on pediatric inflammatory multisystem disease during SARS-CoV-2 pandemic.

Acta Biomed 2020 09 7;91(3):e2020034. Epub 2020 Sep 7.

Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults. University of Modena and Reggio Emilia, Modena, Italy.

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, although sharing features with other pediatric syndromes such as Kawasaki disease (KD), Kawasaki disease shock syndrome (KDSS), macrophage activated syndrome (MAS) and shock toxic syndrome (TSS), seem to outline a novel entity syndrome, characterized by cytokine storm with elevated inflammatory markers and typical clinical finding. Clinical characteristics are greater median age than KD, higher frequency of cardiac involvement and gastrointestinal symptoms, lower frequency of coronary anomalies. We report a summary of the current evidence about clinical features, pathogenesis, therapy strategies and outcome of this novel syndrome.
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http://dx.doi.org/10.23750/abm.v91i3.10360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717011PMC
September 2020

COVID-19 and Type 1 Diabetes: Concerns and Challenges.

Acta Biomed 2020 09 7;91(3):e2020033. Epub 2020 Sep 7.

Pediatric Unit, Department of Medical and Surgical Sciences of the Mother, Children and Adults. University of Modena and Reggio Emilia.

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 infected by SARS-CoV-2.  We analyzed why patients with T1D were poorly represented between the subjects hospitalized for COVID-19 and why the cases of diabetic ketoacidosis (DKA) were fewer and more severe compared with the past years. Furthermore, literature has showed how patients of all ages with T1D did not experience a deterioration in their glucose control throughout the lockdown. Among other causes, this is also due to the surging use of telemedicine. Finally, we tried to understand how the coronavirus tropism for endocrine tissues could influence the future epidemiology of T1D, focusing on the effects they have on pancreatic β-cells.
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http://dx.doi.org/10.23750/abm.v91i3.10366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716973PMC
September 2020

Clinical expression of endocrine disruptors in children.

Curr Opin Pediatr 2020 08;32(4):554-559

Department of Mother and Child, Division of Paediatric Endocrinology and Diabetology, Azienda USL-IRCCS of Reggio Emilia, University of Parma, Parma, Italy.

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.

Recent Findings: Prenatal, postnatal life and puberty are the three main temporal windows of susceptibility when EDCs may act. The mechanism is independent from dose or duration of exposition, sex, age or combination of chemicals and may also be transgenerational, affecting both growth and pubertal timing. A window of susceptibility for breast cancer has been detected. Thyroid gland is influenced by environmental chemicals, both in utero and during childhood. Alteration in Thyrotropin stimulating hormone (TSH) levels and neurodevelopmental impairment have been demonstrate. It has been detected a pro-obesogenic action of specific chemicals, impairing also glucose homeostasis during childhood.

Summary: With a multidisciplinary approach and the use of big data platforms, an attempt has to be made to verify biological variations related to a disease, and how much the risk is influenced by the presence of the endocrine disruptors. This may help the future generation to better interpret uncommunicable diseases.
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http://dx.doi.org/10.1097/MOP.0000000000000926DOI Listing
August 2020

Encephalitis due to herpes zoster without rash in an immunocompetent 12-year-old girl: case report and review of the literature.

BMC Pediatr 2020 07 18;20(1):348. Epub 2020 Jul 18.

Post-graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124, Modena, Italy.

Background: Neurological complications due to reactivation of varicella-zoster virus (VZV) are very uncommon in immunocompetent patients. Generally a vesicular rash is present on one or more dermatomes, preceding or following the main manifestation. Few cases are reported in the international literature, but they concern mainly adult or elderly patients.

Case Presentation: A 12-year-old girl was referred to our hospital for persisting headache, cough and rhinitis for six days. After first examination, diagnosis of anterior sinusitis was made by nasal endoscopy. The day after, the girl developed psychotic symptoms and altered mental status. Computed tomography (CT) scan was immediately performed but was unremarkable; lumbar puncture revealed leukocytosis with lymphocytic predominance and cerebrospinal fluid polymerase chain reaction (PCR) detected varicella-zoster virus DNA. The diagnosis of acute VZV encephalitis was made. The patient was promptly treated with acyclovir infused intravenously and her clinical conditions rapidly improved. Tests made did not show any condition of immunosuppression.

Conclusions: Although if rare, reactivation of VZV can occur in immunocompetent children and its complications can involve central nervous system. Among these complications, meningitis is more common, but cerebral parenchyma can also be involved leading to a severe medical condition that is defined meningoencephalitis. In rare cases vesicular rash may be absent; therefore high level of suspicion is required even in those patients in which suggestive clinical features are not present to guide the diagnosis. Intravenous acyclovir represents the treatment of choice to obtain a fast clinical response and to prevent the onset of late-term complications.
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http://dx.doi.org/10.1186/s12887-020-02244-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368762PMC
July 2020

Gut microbiota signatures and clinical manifestations in celiac disease children at onset: a pilot study.

J Gastroenterol Hepatol 2021 Feb 5;36(2):446-454. Epub 2020 Aug 5.

Gastroenterology Unit, University Hospital Borgo Trento, Verona, Italy.

Background And Aim: Recent researches have shown an altered gut microbiota in celiac disease (CD) patients compared with healthy controls (HCs). This study aims to evaluate the composition of the microbiota of CD children at onset and the relationship between bacterial abundances and symptoms.

Methods: Celiac disease patients were consecutively enrolled at a pediatric unit referring for suspected CD. HCs were also included in the study. Stool and duodenal samples were collected and evaluated by a high taxonomic fingerprint microbiota array.

Results: Thirty-seven subjects enrolled: 21 CD patients and 16 HCs. Fourteen subjects were male (38%). The mean age was 75 months (standard deviation 31.5) for CD patients and 71 months (standard deviation 34.9) for HCs. Duodenal microbiota of CD patients showed a dominance of Enterobacteriaceae and subdominance of Bacteroidetes/Streptococcus. Stool microbiota showed a lower abundance of Bacteroides-Prevotella (P = 0.013), Akkermansia (P = 0.002), and Staphylococcaceae (P = 0.001) in CD patients compared with HC. At symptoms level, an increased mean relative abundance of Bacillaceae and Enterobaeriaceae in patients with abdominal pain (P = 0.007 and P = 0.010) was found. CD patients with diarrhea had reduced mean relative abundance of Clostridium cluster XIVa (P = 0.044) and Akkermansia (P = 0.033) and an increase in Bacillaceae (P = 0.048) and Fusobacterium (P = 0.048).

Conclusions: Gut microbiota of CD children at disease onset is different from that of HC. Pro-inflammatory microbiota imbalances were associated with CD symptoms. Further studies are needed to assess whether dysbiosis is associated with CD early onset and symptoms.
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http://dx.doi.org/10.1111/jgh.15183DOI Listing
February 2021

Mowat-Wilson syndrome: growth charts.

Orphanet J Rare Dis 2020 06 15;15(1):151. Epub 2020 Jun 15.

ATS Bergamo, Brembana Valley district, Bergamo, Italy.

Background: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.

Results: In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build.

Conclusions: These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.
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http://dx.doi.org/10.1186/s13023-020-01418-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7294656PMC
June 2020