Pediatric Reports

20 pages, 714 KiB

Open AccessFeature PaperArticle

The Lègami/Legàmi Service—An Experience of Psychological Intervention in Maternal and Child Care during COVID-19

by Giovanna Perricone, Ilenia Rotolo, Viviana Beninati, Nicolò Billeci, Valeria Ilarda and Concetta Polizzi

Pediatr. Rep. 2021, 13(1), 142-161; https://doi.org/10.3390/pediatric13010021 - 22 Mar 2021

Cited by 9 | Viewed by 2423

Abstract

This study provides a descriptive analysis of the Lègami/Legàmi service, a free psychological support service in maternal and childcare, offered through the internet and by telephone that was initiated by the Italian Society of Pediatric Psychology (S.I.P.Ped.) during the COVID-19 medical emergency as [...] Read more.

This study provides a descriptive analysis of the Lègami/Legàmi service, a free psychological support service in maternal and childcare, offered through the internet and by telephone that was initiated by the Italian Society of Pediatric Psychology (S.I.P.Ped.) during the COVID-19 medical emergency as an act of solidarity, first independently, and then in collaboration with the Italian Ministry of Health. This paper presents findings related to the “universe” of people who called the toll-free service, from the sociocultural characteristics of the users to the information collected by the professionals during the psychological pathways until human satisfaction was achieved. We provide a retrospective description of an experience that took place between April and June 2020, and which involved users of the maternal-infant area calling from the whole Italy. (1) Methods: The aims of this study were to investigate the configuration of the indicators identified and to detect the possible correlations between them in the sample. There were 193 users who took advantage of the Service, 160 of whom continued beyond the reception service; it is this group that we report the findings from here. The tool used was a form reporting access to care and interventions, and the resulting data underwent a content analysis and the indicators were subject to non-parametric statistical analysis to analyze differences and relationships. (2) Results: There were many correlations among the indicators that revealed a high prevalence of calls due to personal motivations and requests for support, which later allowed users to gain a greater understanding of the underlying problems they were facing. The professionals running the service noticed a prevalence of weaknesses attributable to the negative emotions of its users, alongside a presence of cognitive and relational resources. The professionals’ interventions, which can be characterized by a prevalence of social support, psychological rehabilitation, and psychoeducation, achieved outcomes of redefining users’ relationships with themselves and others. All of the service’s users have expressed a high level of satisfaction with it. (3) Discussion: Our results revealed the protective and transformative effects of the service for its users and the underlying importance of having an easily accessible psychological support system in place during emergencies, like the recent pandemic. In conditions like these, the great value of a remote support service should be noted, and despite its limitations, assures its own efficacy when a medical emergency precludes closer in-person forms of psychological assistance. Full article

(This article belongs to the Section Pediatric Psychology)

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7 pages, 233 KiB

Open AccessEditorial

Pediatric Psychology

by Giovanna Perricone

Pediatr. Rep. 2021, 13(1), 135-141; https://doi.org/10.3390/pediatric13010020 - 22 Mar 2021

Cited by 5 | Viewed by 2600

Abstract

The attention and the intervention of psychology in the field of pediatrics, especially regarding mothers and childcare, whether in a hospital or not, is extremely longstanding [...] Full article

(This article belongs to the Section Pediatric Psychology)

4 pages, 998 KiB

Open AccessCase Report

Itchy Capillary Malformations: Unusual Appearance of Meyerson Phenomenon, a Case Series

by Manuel Sanchez-Diaz, Trinidad Montero-Vilchez, Luis Salvador-Rodriguez, Alejandro Molina-Leyva, Salvador Arias-Santiago and Jesús Tercedor-Sanchez

Pediatr. Rep. 2021, 13(1), 131-134; https://doi.org/10.3390/pediatric13010019 - 16 Mar 2021

Cited by 3 | Viewed by 3072

Abstract

Meyerson phenomenon, also known as “halo-eczema,” has been widely described over melanocytic and non-melanocytic lesions. However, its appearance over vascular anomalies is rarely observed and could lead to diagnostic errors. A case study of five patients aged between four months and two years [...] Read more.

Meyerson phenomenon, also known as “halo-eczema,” has been widely described over melanocytic and non-melanocytic lesions. However, its appearance over vascular anomalies is rarely observed and could lead to diagnostic errors. A case study of five patients aged between four months and two years is reported. These patients developed unique erythematous and pruritic scaly patches, being diagnosed and treated as fungal infections. Due to the lack of response to the treatment, they were referred to the pediatric dermatology practice, where the diagnosis of Meyerson phenomenon over capillary malformations was made. Topical treatment with corticosteroids led to improvement in all cases. Although Meyerson phenomenon developing over vascular anomalies is a rare condition, it is important for pediatricians and dermatologists to assess it as a part of the differential diagnosis when treating a patient with skin lesions. Recognizing this phenomenon will prevent diagnostic and therapeutic errors. Full article

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6 pages, 988 KiB

Open AccessCase Report

Aggressive Neuroblastoma in a Pediatric Patient with Severe Hemophilia A

by Lidia Costa, Maria Eduarda Couto, Juliana Moutinho, Ana Maia Ferreira, Emilia Costa, Susana Roncon, Luisa Lopes Santos, Eugenia Cruz and Sara Morais

Pediatr. Rep. 2021, 13(1), 125-130; https://doi.org/10.3390/pediatric13010018 - 8 Mar 2021

Viewed by 2028

Abstract

Despite the extensive information regarding hemophilia’s hemorrhagic complications, the literature on cancer in hemophilia is scarce, especially in pediatric patients. Many uncertainties remain concerning diagnosis and workup. We report a rare case of two severe diseases (neuroblastoma and hemophilia A (HA)) concomitantly present [...] Read more.

Despite the extensive information regarding hemophilia’s hemorrhagic complications, the literature on cancer in hemophilia is scarce, especially in pediatric patients. Many uncertainties remain concerning diagnosis and workup. We report a rare case of two severe diseases (neuroblastoma and hemophilia A (HA)) concomitantly present in the same pediatric patient. We highlight that the diagnosis of severe HA did not have a negative impact on the patient’s oncologic course. This case also illustrates the significance of the cooperation among different specialties and hospitals when caring for the same patient. Full article

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7 pages, 249 KiB

Open AccessArticle

Effectiveness of Preventive Measures in Keeping Low Prevalence of SARS-CoV-2 Infection in Health Care Workers in a Referral Children’s Hospital in Southern Italy

by Désirée Caselli, Daniela Loconsole, Rita Dario, Maria Chironna and Maurizio Aricò

Pediatr. Rep. 2021, 13(1), 118-124; https://doi.org/10.3390/pediatric13010017 - 4 Mar 2021

Cited by 4 | Viewed by 2438

Abstract

The coronavirus disease 2019 (COVID-19) pandemic now represents a major threat to public health. Health care workers (HCW) are exposed to biological risk. Little is currently known about the risk of HCW operating in pediatric wards for SARS-CoV-2 infection. The aim is to [...] Read more.

The coronavirus disease 2019 (COVID-19) pandemic now represents a major threat to public health. Health care workers (HCW) are exposed to biological risk. Little is currently known about the risk of HCW operating in pediatric wards for SARS-CoV-2 infection. The aim is to assess the prevalence of SARS-CoV-2 infection in HCW in a third-level children’s hospital in Southern Italy. An observational cohort study of all asymptomatic HCW (physician, technicians, nurses, and logistic and support operators) was conducted. HCW were screened, on a voluntary basis, for SARS-CoV-2 by RT-PCR on nasopharyngeal swab performed during the first wave of COVID-19. The study was then repeated, with the same modalities, at a 7-month interval, during the “second wave” of the COVID-19 pandemic. At the initial screening between 7 and 24 April 2020, 525 HCW were tested. None of them tested positive. At the repeated screening, conducted between 9 and 20 November 2020, 627 HCW were tested, including 61 additional ones resulting from COVID-emergency recruitment. At this second screening, eight subjects (1.3%) tested positive, thus being diagnosed as asymptomatic carriers of SARS-CoV-2. They were one physician, five nurses, and two HCW from the logistic/support services. They were employed in eight different wards/services. In all cases, the epidemiological investigation showed convincing evidence that the infection was acquired through social contacts. The study revealed a very low circulation of SARS-CoV-2 infection in HCW tested with RT-PCR. All the infections documented in the second wave of epidemic of SARS-CoV-2 were acquired outside of the workplace, confirming that in a pediatric hospital setting, HCW education, correct use of personal protective equipment, and separation of the COVID-patient pathway and staff flow may minimize the risk derived from occupational exposure. Full article

(This article belongs to the Collection COVID-19: What Happens in Pediatric Research in the Era of Pandemic)

5 pages, 465 KiB

Open AccessCase Report

Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene

by Jun Shinozuka, Nobuo Okumura, Mayumi Nagasawa, Motokazu Nishikado, Sayaka Kadowaki, Itsuro Katsuda and Shinsaku Imashuku

Pediatr. Rep. 2021, 13(1), 113-117; https://doi.org/10.3390/pediatric13010016 - 1 Mar 2021

Viewed by 2119

Abstract

Detection of severe hypofibrinogenemia (<50 mg/dL) in a neonate soon after birth is alarming because of the risk of hemorrhage. A female neonate was noted to be hypofibrinogenemic (<50 mg/dL) on day 0 of birth; she showed no thrombocytopenia/coagulopathy or hemorrhagic symptoms. Considering [...] Read more.

Detection of severe hypofibrinogenemia (<50 mg/dL) in a neonate soon after birth is alarming because of the risk of hemorrhage. A female neonate was noted to be hypofibrinogenemic (<50 mg/dL) on day 0 of birth; she showed no thrombocytopenia/coagulopathy or hemorrhagic symptoms. Considering the possibility of afibrinogenemia, which may cause bleeding, fresh frozen plasma (FFP) was initiated twice a week to maintain her plasma fibrinogen level at 50–100 mg/dL. Thereafter, we found hypofibrinogenemia in her father and elder sister and plasma fibrinogen levels, determined by clot formation and immunological methods, showed similarly reduced values in both the neonate (proband) and her father. Based on a presumed diagnosis of congenital hypofibrinogenemia, sequencing of the fibrinogen genes was performed, revealing a novel heterozygous mutation of FGB (Genbank NG008833); a p.403Try>Stop. The neonate was treated with repeat FFP infusions until two months of age, when treatment was stopped because she remained asymptomatic. Full article

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9 pages, 1569 KiB

Open AccessCase Report

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review

by Luisa Federica Nespoli, Elena Albani, Carla Corti, Luigina Spaccini, Enrico Alfei, Irene Daniele, Gian Vincenzo Zuccotti, Gianluca Lista, Valeria Calcaterra and Savina Mannarino

Pediatr. Rep. 2021, 13(1), 104-112; https://doi.org/10.3390/pediatric13010015 - 1 Mar 2021

Cited by 6 | Viewed by 2495

Abstract

Background: Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in newborns. Approximately 80–90% of cases are associated with tuberous sclerosis complex (TSC). In selective cases, Everolimus has resulted in a remarkable tumoral regression effect in children with TS. The optimal dosage [...] Read more.

Background: Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in newborns. Approximately 80–90% of cases are associated with tuberous sclerosis complex (TSC). In selective cases, Everolimus has resulted in a remarkable tumoral regression effect in children with TS. The optimal dosage for neonates is still unknown. Case presentation: We describe the use of Everolimus in a neonate with multiple biventricular CRs, causing subaortic obstruction, in which a low-dose treatment (0.1 mg/die), in an effort to maintain serum trough levels of 3–7 ng/mL, was successfully used off-label, without adverse effects. Conclusions: We showed that a low-dose Everolimus regimen may be an effective and safe treatment for CR regression in TS neonates, when the minimum therapeutic range was maintained. Full article

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6 pages, 224 KiB

Open AccessArticle

Acute Pancreatitis as a Complication of Antiepileptic Treatment: Case Series and Review of the Literature

by Agnieszka Pawłowska-Kamieniak, Paulina Krawiec and Elżbieta Pac-Kożuchowska

Pediatr. Rep. 2021, 13(1), 98-103; https://doi.org/10.3390/pediatric13010014 - 26 Feb 2021

Cited by 4 | Viewed by 2026

Abstract

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include [...] Read more.

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP. Full article

3 pages, 213 KiB

Open AccessFeature PaperEditorial

SARS-CoV-2 Vaccination for Children—An Open Issue

by Désirée Caselli and Maurizio Aricò

Pediatr. Rep. 2021, 13(1), 95-97; https://doi.org/10.3390/pediatric13010013 - 24 Feb 2021

Cited by 4 | Viewed by 2459

Abstract

The Covid-19 pandemic is still raging [...] Full article

4 pages, 195 KiB

Open AccessCommentary

Primary Congenital Lymphedema with More Than 10 Years of Treatment Using the Godoy Method Through to Adolescence

by Ana Carolina Pereira de Godoy, Jose Maria Pereira de Godoy and Maria de Fatima Guerreiro Godoy

Pediatr. Rep. 2021, 13(1), 91-94; https://doi.org/10.3390/pediatric13010012 - 20 Feb 2021

Cited by 11 | Viewed by 2011

Abstract

Introduction: Lymphedema is a specific type of edema that affects regions of the body in a chronic, progressive manner. Aim: The aim of the present study was to describe the therapeutic evolution of more than ten years of treatment for primary congenital lymphedema [...] Read more.

Introduction: Lymphedema is a specific type of edema that affects regions of the body in a chronic, progressive manner. Aim: The aim of the present study was to describe the therapeutic evolution of more than ten years of treatment for primary congenital lymphedema using the Godoy and Godoy method. Method: Ten children with primary congenital lymphedema with more than ten years of treatment at the Godoy Clinic were evaluated. Children with a clinical diagnosis of primary congenital lymphedema in treatment for more than 10 years with the Godoy Method. Cervical stimulation is the first treatment option of the method and is performed as monotherapy. The patients were reevaluated with weekly, bi-weekly and monthly frequencies and then every three months or when the family was able to return to the clinic. Results: For cases in which cervical stimulation was not possible, grosgrain stockings as monotherapy was the second therapeutic option. Conclusion: The Godoy and Godoy Method is effective at reducing edema in cases of primary congenital lymphedema, with the maintenance of the results throughout the treatment period. Full article

5 pages, 488 KiB

Open AccessCase Report

Acute Acalculous Cholecystitis Due to a Primary Epstein Barr Virus Infection in a Pediatric Patient

by Carlos Leganés Villanueva, Ilaria Goruppi, Nuria Brun Lozano, Federica Bianchi, María Quinteiro González and Susana Boronat Guerrero

Pediatr. Rep. 2021, 13(1), 86-90; https://doi.org/10.3390/pediatric13010011 - 6 Feb 2021

Cited by 3 | Viewed by 3632

Abstract

Epstein–Barr virus (EBV) is estimated to infect more than 98% of adults worldwide and is one of the most common human viruses. Acute acalculous cholecystitis (AAC) of the gallbladder is an atypical complication of infectious mononucleosis caused by EBV. Conservative management has been [...] Read more.

Epstein–Barr virus (EBV) is estimated to infect more than 98% of adults worldwide and is one of the most common human viruses. Acute acalculous cholecystitis (AAC) of the gallbladder is an atypical complication of infectious mononucleosis caused by EBV. Conservative management has been described in the context of AAC caused by EBV. A surgical approach must be considered in the case of acute complications such as perforation or gallbladder gangrene. We present the case of a 10-year-old female patient with AAC due to infectious mononucleosis syndrome caused by primary EBV infection. Full article

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10 pages, 530 KiB

Open AccessCase Report

Epiploic Appendagitis and Omental Infarction as Rare Causes of Acute Abdominal Pain in Children

by Federica Bianchi, Carlos Leganés Villanueva, Núria Brun Lozano, Ilaria Goruppi and Susana Boronat Guerrero

Pediatr. Rep. 2021, 13(1), 76-85; https://doi.org/10.3390/pediatric13010010 - 5 Feb 2021

Cited by 5 | Viewed by 3547

Abstract

Omental infarction and epiploic appendagitis are rare causes of acute abdominal pain in the pediatric population. Radiological evaluation is necessary to establish a specific diagnosis and to differentiate appendicitis from these conditions as they can be often managed conservatively without surgical intervention. Full article

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4 pages, 1505 KiB

Open AccessCase Report

Clinically Mild Encephalopathy with a Reversible Splenial Lesion Caused by Influenza B Virus in an Unvaccinated Child

by Silvia Ventresca, Claudia Guiducci, Sara Tagliani, Sara Dal Bo, Paolo Ricciardelli, Patrizia Cenni and Federico Marchetti

Pediatr. Rep. 2021, 13(1), 72-75; https://doi.org/10.3390/pediatric13010009 - 4 Feb 2021

Cited by 2 | Viewed by 2306

Abstract

Reversible lesions involved in the splenium of corpus callosum (RESLES) are a rare clinic-radiological condition, whose pathogenesis could be related to infectious events (such as in mild encephalopathy with reversible splenial lesion—MERS), epilepsy or metabolic/electrolyte disorders. MERS is characterized by an acute mild [...] Read more.

Reversible lesions involved in the splenium of corpus callosum (RESLES) are a rare clinic-radiological condition, whose pathogenesis could be related to infectious events (such as in mild encephalopathy with reversible splenial lesion—MERS), epilepsy or metabolic/electrolyte disorders. MERS is characterized by an acute mild encephalopathy associated with lesions in the splenium of corpus callosum on brain magnetic resonance imaging. Viral infections are commonly associated with this condition and type A influenza is the most common cause. The prognosis is generally favorable with spontaneous resolution of clinical and radiological abnormalities. We report a case report of type B influenza MERS in an 8-year-old unvaccinated girl with complete clinical and radiological recovery. Full article

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7 pages, 1745 KiB

Open AccessArticle

14-3-3η Protein as a Potential Biomarker in Juvenile Idiopathic Arthritis

by Austin Dalrymple, Paul Tuttle, Lance Feller, Olga Zhukov, Robert Lagier, Joanna Popov, Stanley Naides and Terry Moore

Pediatr. Rep. 2021, 13(1), 65-71; https://doi.org/10.3390/pediatric13010008 - 25 Jan 2021

Cited by 1 | Viewed by 3675

Abstract

The 14-3-3η (eta) protein was evaluated as a biomarker in a cohort of patients with juvenile idiopathic arthritis (JIA), as well as disease- and healthy-controls, to determine its potential clinical utility. In this case-control study, levels of 14-3-3η protein were evaluated [...] Read more.

The 14-3-3η (eta) protein was evaluated as a biomarker in a cohort of patients with juvenile idiopathic arthritis (JIA), as well as disease- and healthy-controls, to determine its potential clinical utility. In this case-control study, levels of 14-3-3η protein were evaluated in archival specimens from patients with JIA, systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA), as well as healthy pediatric controls. Just over 200 patients were evaluated, using specimens banked between 1990 and 2011. Comparisons were made to complete blood cell count (CBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibodies, and anti-nuclear antibody (ANA) positivity. 14-3-3η at levels 0.2 ng/mL or higher was considered positive. Fisher’s exact tests, odds ratios, 95% confidence intervals, and p-values were reported. 14-3-3η positivity was seen in all included JIA subtypes. The rate of positivity was the highest in RF-positive (pos) polyarticular JIA. In the disease and healthy controls, lower rates of positivity were observed. The frequency of 14-3-3η positivity among RF-positive and RF-negative (neg) polyarticular JIA patients, especially at values ≥0.5 ng/mL (associated with poor outcomes in adults), was also highest. Several JIA patients with 14-3-3η positivity developed RF and anti-CCP positivity later in their disease. Significant levels of 14-3-3η can be found in approximately 30% of RF-pos and RF-neg patients with polyarticular JIA. This protein may represent a new biomarker for polyarticular JIA, particularly RF-neg polyarticular JIA. Full article

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8 pages, 2543 KiB

Open AccessCase Report

Large Congenital Pericardial Cyst Presented by Palpitation and Left Ventricle Posterior Wall Compression: A Rare Case Report

by Noor Mohamad Noori, Elham Shafighi Shahri and Seyed Hosein Soleimanzadeh Mousavi

Pediatr. Rep. 2021, 13(1), 57-64; https://doi.org/10.3390/pediatric13010007 - 15 Jan 2021

Cited by 1 | Viewed by 2635

Abstract

Congenital pericardial cysts are rare anomalies caused by the failure of fetal lacunae to coalesce into pericardial coelom. In this article a 9-year-old boy admitted with complain of palpitation in daily activities. The electrocardiography detected sinus tachycardia of 150 beats per minute with [...] Read more.

Congenital pericardial cysts are rare anomalies caused by the failure of fetal lacunae to coalesce into pericardial coelom. In this article a 9-year-old boy admitted with complain of palpitation in daily activities. The electrocardiography detected sinus tachycardia of 150 beats per minute with normal axis. Although chest X ray were normal, echocardiography showed an abnormal mass that compressed the posterior wall of left ventricle. The mass was extrinsic and confined to the pericardium. After midsternotomy, a huge cyst was found and totally excised. The complications of pericardial cyst can be significant, and the diagnosis relies on a careful examination and radiographic findings. Full article

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12 pages, 960 KiB

Open AccessCase Report

Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention

by Gloria Pelizzo, Luigi Chiricosta, Emanuela Mazzon, Gian Vincenzo Zuccotti, Maria Antonietta Avanzini, Stefania Croce, Mario Lima, Placido Bramanti and Valeria Calcaterra

Pediatr. Rep. 2021, 13(1), 45-56; https://doi.org/10.3390/pediatric13010006 - 5 Jan 2021

Cited by 3 | Viewed by 3152

Abstract

Congenital anomalies may have an increased risk of noncommunicable diseases (NCDs) We performed a clinical exome analysis in an infant affected by “Vertebral, Anorectal, Cardiac, Tracheoesophageal, Genitourinary, and Limb” (VACTERL) malformation association to identify potential biomarkers that may be helpful for preventing malignancy [...] Read more.

Congenital anomalies may have an increased risk of noncommunicable diseases (NCDs) We performed a clinical exome analysis in an infant affected by “Vertebral, Anorectal, Cardiac, Tracheoesophageal, Genitourinary, and Limb” (VACTERL) malformation association to identify potential biomarkers that may be helpful for preventing malignancy risk or other chronic processes. Among the variants, six variants that may be linked with VACTERL were identified in the exome analysis. The variants c.501G>C on OLR1 and c.-8C>G on PSMA6 were previously associated with myocardial infarction. The variants c.1936A>G on AKAP10 and c.575A>G on PON1 are linked to defects in cardiac conduction and artery disease, respectively. Alterations in metabolism were also suggested by the variants c.860G>A on EPHX2 and c.214C>A on GHRL. In addition, three variants associated with colon cancer were discovered. Specifically, the reported variants were c.723G>A on CCND1 and c.91T>A on AURKA proto-oncogenes as well as c.827A>C in the tumor suppressor PTPRJ. A further inspection identified 15 rare variants carried by cancer genes. Specifically, these mutations are located on five tumor suppressors (SDHA, RB1CC1, PTCH1, DMBT1, BCR) and eight proto-oncogenes (MERTK, CSF1R, MYB, ROS1, PCM1, FGFR2, MYH11, BRCC3) and have an allele frequency lower than 0.01 in the Genome Aggregation Database (GnomAD). We observed that the cardiac and metabolic phenotypic traits are linked with the genotype of the patient. In addition, the risk of developing neoplasia cannot be excluded a priori. Long-term surgical issues of patients with VATER syndrome could benefit from the clinical exome sequencing of a personalized risk assessment for the appearance of further disease in pubertal timing and adult age. Full article

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10 pages, 790 KiB

Open AccessFeature PaperArticle

Autism, Therapy and COVID-19

by Luana Sergi, Emanuele Mingione, Maria Carla Ricci, Antonella Cavallaro, Ferdinando Russo, Giulio Corrivetti, Francesca Felicia Operto and Alessandro Frolli

Pediatr. Rep. 2021, 13(1), 35-44; https://doi.org/10.3390/pediatric13010005 - 5 Jan 2021

Cited by 8 | Viewed by 6568

Abstract

While numerous treatments for ASD are available, intervention based on the principles and procedures of Applied Behavior Analysis (ABA) has garnered substantial scientific support. In this study we evaluated the effects of the lockdown during the COVID-19 pandemic outbreak, followed by quarantine provisions [...] Read more.

While numerous treatments for ASD are available, intervention based on the principles and procedures of Applied Behavior Analysis (ABA) has garnered substantial scientific support. In this study we evaluated the effects of the lockdown during the COVID-19 pandemic outbreak, followed by quarantine provisions and during the three months after the resumption of activities. The study was conducted on a group of children taking part on a ABA-based intervention funded by the Local Health Authority (ASL) of the province of Caserta. In this study we considered a sample of 88 children who had been diagnosed with Autism Spectrum Disorder, aged between 18 and 30 months. The following inclusion criteria were observed: age at the time of diagnosis less than 30 months, absence of other neurological, genetic, or sensorineural pathologies, and severity level 1 measured by symptoms evaluation based on the ADOS 2 module T (used for diagnosis). During the lockdown children experienced improvements in communication, socialization, and personal autonomy. During the three months after the ABA treatment, the acquired skills were maintained but no significant improvement was demonstrated. In this study, we describe how parent training was significant in avoiding delays in the generalization of socially significant behaviors, following the drastic interruption of the treatment in this group of children. Full article

(This article belongs to the Collection COVID-19: What Happens in Pediatric Research in the Era of Pandemic)

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4 pages, 476 KiB

Open AccessCase Report

COVID-19 in Pediatric Granulomatosis with Polyangiitis

by Amir Saeed, Eslam Shorafa, Zahra Seratishirazi and Seyedenarjes Abootalebi

Pediatr. Rep. 2021, 13(1), 31-34; https://doi.org/10.3390/pediatric13010004 - 4 Jan 2021

Cited by 1 | Viewed by 2428

Abstract

The confirmed cases with COVID-19 in children account for just 1% of the overall confirmed cases. Severe COVID-19 in children is rare. Case Presentation: Our patient was 16 years old with a severe case of COVID-19 and did not survive due to the [...] Read more.

The confirmed cases with COVID-19 in children account for just 1% of the overall confirmed cases. Severe COVID-19 in children is rare. Case Presentation: Our patient was 16 years old with a severe case of COVID-19 and did not survive due to the presence of Granulomatosis with polyangiitis and being treated with immunosuppressive drugs. We used lopinavir, ritonavir, hydroxy chloroquine, intravenous immunoglobulin and continuous veno-venous hemodialysis for treatment. Conclusion: In this patient, an underlying disease and delayed admission to the hospital were two factors complicating his condition. Full article

(This article belongs to the Collection COVID-19: What Happens in Pediatric Research in the Era of Pandemic)

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16 pages, 480 KiB

Open AccessFeature PaperReview

Noli Timere: The Role of Reassuring Adults in Dealing with COVID-19 Anxiety in Pediatric Age

by Daniela Smirni

Pediatr. Rep. 2021, 13(1), 15-30; https://doi.org/10.3390/pediatric13010003 - 1 Jan 2021

Cited by 7 | Viewed by 3438

Abstract

Since the earliest stages of the Corona Virus Disease-19 (COVID-19) spread, the elderly has been identified as the most vulnerable and health authorities have rightly focused on that population. Minor attention was paid to pediatric populations and their emotional reactions. Actually, children and [...] Read more.

Since the earliest stages of the Corona Virus Disease-19 (COVID-19) spread, the elderly has been identified as the most vulnerable and health authorities have rightly focused on that population. Minor attention was paid to pediatric populations and their emotional reactions. Actually, children and adolescents faced severe anxiety, fear and stress conditions. An efficient management of the pandemic, therefore, must take into account the pediatric population which cannot be neglected as a minor matter compared to the elderly, the economy and health care. Since the lockdown time is over, children and adolescents must recover sociality, return to living in the open air, rediscover playing, free time, aiming for the beauty of their everyday life. In order to mitigate the long-term impact of COVID-19, the key response is the reassuring presence of the adult as ‘a secure base’. The current study aimed to collect an overview of the recent references that report evidence on the role of adults in containing pandemic anxiety COVID-19 in pediatric populations, suggesting the need to ensure a reassuring presence of the adult, an effective child-parent communication, a child-friendly day and a long-lasting shared time with parents. Full article

(This article belongs to the Collection COVID-19: What Happens in Pediatric Research in the Era of Pandemic)

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6 pages, 1299 KiB

Open AccessCase Report

Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

by Golamreza Bahoush, Maryam Vafapour and Roxana Kariminejad

Pediatr. Rep. 2021, 13(1), 9-14; https://doi.org/10.3390/pediatric13010002 - 24 Dec 2020

Cited by 2 | Viewed by 2060

Abstract

About 2–5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has [...] Read more.

About 2–5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations. Full article

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Open AccessArticle

Timely Initiation of Breast Feeding and Associated Factors among Caesarian Section Delivered Mothers in Health Facilities of Dessie City Administration, North Eastern Ethiopia

by Roza Shiferaw, Sisay Eshete Tadesse, Tefera Chane Mekonnen and Aregash Abebayehu Zerga

Pediatr. Rep. 2021, 13(1), 1-8; https://doi.org/10.3390/pediatric13010001 - 23 Dec 2020

Cited by 5 | Viewed by 2901

Abstract

Objective: To assess the magnitude and associated factors of timely initiation of breastfeeding among cesarean section delivered mothers. Methods: A health facility-based cross-sectional study was employed among 421 systematically selected mothers from February to June, 2017. Data were collected by a [...] Read more.

Objective: To assess the magnitude and associated factors of timely initiation of breastfeeding among cesarean section delivered mothers. Methods: A health facility-based cross-sectional study was employed among 421 systematically selected mothers from February to June, 2017. Data were collected by a structured questionnaire. Data entry and analysis was done using Epi Data and SPSS version 24. Binary logistic regression was computed to identify factors. Adjusted odds ratio with a 95% confidence interval was used to declare statistical significance. Result: The magnitude of timely initiation of breast feeding (among mothers who gave birth by cesarean section was 57%. Counseling during antenatal care (AOR = 3.32; 95% CI: 1.80, 6.13), facility where cesarean section (CS) was performed (AOR = 2.55; 95% CI: 1.57, 4.14), and post-CS counseling (AOR = 6.93; 95% CI: 3.99, 12.02) were factors that contributed for the practice of timely initiation among cesarean section delivered mothers. Conclusions: The magnitude of TIBF was good. Counseling during ANC, the facility where CS was performed and post-natal advice were factors associated with TIBF. Implementation of baby-friendly hospital initiatives should be strengthened in order to promote timely initiation of breast feeding. Full article

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Pediatr. Rep., Volume 13, Issue 1 (March 2021) – 21 articles

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