The role of the pediatric neurosurgeon in abusive head injuries: a survey of members of the International Society for Pediatric Neurosurgery.

Background And Purpose: Pediatric neurosurgeons are at the forefront of the clinical management of abusive head injuries (AHI) all over the world. However, the discrepancies regarding medical practice and legal requirements in different centers have not been assessed before.

Material And Methods: We decided to perform an online survey among members of the International Society for Pediatric Neurosurgery (ISPN) regarding their activity, their usual clinical practice regarding the medical and legal management of AHI, and their involvement in judiciary proceedings, research, and prevention campaigns.

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Background: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case with a GJA1 mutation have been previously reported.

Objective: To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN.

Nitrate removal by combining chemical and biostimulation approaches using micro-zero valent iron and lactic acid.

The occurrence of nitrate is the most significant type of pollution affecting groundwater globally, being a major contributor to the poor condition of water bodies. This pollution is related to livestock-agricultural and urban activities, and the nitrate presence in drinking water has a clear impact on human health. For example, it causes the blue child syndrome.

An Ethical Analysis of Newborn Congenital Cytomegalovirus Screening.

Congenital cytomegalovirus (cCMV) affects approximately 1 in every 200 US infants and can be associated with long-term neurodevelopmental sequelae, including sensorineural hearing loss, cerebral palsy, and intellectual disability. As cCMV is infrequently diagnosed based on clinical suspicion alone, newborn cCMV screening programs have been gaining traction, especially hearing-targeted programs which only test infants who fail their newborn hearing screen. cCMV screening programs raise unique ethical dilemmas of both under- and over-diagnosis of cCMV.

[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene.

Objective: To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1.

Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome.

Large/abnormal offspring syndrome (LOS/AOS) is a congenital overgrowth syndrome reported in ruminants produced by assisted reproduction (ART-LOS) which exhibit global disruption of the epigenome and transcriptome. LOS/AOS shares phenotypes and epigenotypes with the human congenital overgrowth condition Beckwith-Wiedemann syndrome. We have reported that LOS occurs spontaneously (SLOS); however, to date, no study has been conducted to determine if SLOS has the same methylome epimutations as ART-LOS.

The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study.

Background: Very few recent nationwide studies have assessed the epidemiology of cleft lip with or without palate (CL/P). The purpose of this study was to identify the prevalence, risk of premature births, mortality and cause of death of CL/P.

Methods: This nationwide population-based cohort study evaluated all 5 747 830 live births in South Korea, including CL/P infants, from 2006 to 2018.

Cutaneous mosaicism: Special considerations for women.

Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is readily visualized since affected tissue often follows predetermined patterns, such as lines of Blaschko.

[The use of clinical molecular and genetic tests in forensic medical opinions].

Modern molecular biology and clinical genetics have the ability to diagnose many diseases, the presence or absence of which is important in various areas of forensic medical opinion. The aim of the study is to present examples of possible non-standard application of clinical molecular-genetic tests in forensic medicine. From among all the opinions prepared so far at the Department of Forensic Medicine in Katowice, three were selected two of which concerned post-autopsy conclusions relating to the cause of death, and in one case - opinion based on the files of a case related to the suspicion of a maltreated child syndrome in an infant.

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Background: CHILD syndrome is an X-linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs.

Oral manifestations of multisystemic inflammatory syndrome in children (MIS-C) and Kawasaki disease associated to COVID-19: A systematic review.

Aims: Multisystemic inflammatory syndrome in children (MIS-C) is a condition noted in some children asymptomatic but positive to Sars-cov-2 antibody and it presents clinical and laboratory changes similar to Kawasaki disease (KD). Oral changes have also been observed. This systematic review evaluated oral manifestations detected in children with MIS-C and KD associated to COVID-19.

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recently, pathogenesis-based treatment has demonstrated improvement of skin lesions with statins by decreasing formation of cholesterol intermediates through inhibition of cholesterol synthesis. We report a 10-month-old girl who presented with unilateral scaly ptychotropic plaques, who experienced rapid, near-complete clearance with topical 5% simvastatin monotherapy twice daily.

Abusive head trauma: Canadian and global perspectives.

Canada has come a long way since Dr. C. Henry Kempe first described battered-child syndrome in 1962.

Is it all MIS-C? Unusual findings in a series of nine German patients with multi-system inflammatory syndrome in children after SARS-CoV-2 infection.

Objectives: Multi-system inflammatory syndrome in children (MIS-C) is a post-viral inflammatory vasculopathy of children and adolescents following Covid-19 infection. Since the incidence of SARS-CoV-infections has been increasing in Germany since October 2020, we observe an increasing number of children presenting with MIS-C.

Design: We present detailed clinical characteristics of a cohort of nine children with MIS-C admitted to a tertiary PICU at the University Hospital of Cologne between March 2020 and February 2021.

Perceptions of child vulnerability in first-time mothers who conceived using assisted reproductive technology.

Objectives: There has been an absence of research investigating if infertility and the utilisation of Assisted Reproductive Technology (ART) to conceive increases maternal perceptions of child vulnerability. The purpose of the current study was to assess if there were differences in maternal ratings of child vulnerability between first-time mothers who conceived using ART procedures and first-time mothers who conceived spontaneously.

Methods: This cross-sectional study was comprised of 171 first-time mothers who conceived using ART and 198 first-time mothers who conceived spontaneously.

Pig Bite Injury Mimicking as Battered Baby Syndrome Leading to Bilateral Foot Amputation in a Toddler: A Diagnostic Dilemma and a Rare Case Report.

Introduction: Animal bites are a less common cause of pediatric injury. They are rarely associated with fractures in toddlers. Child abuse is the most closely related differential diagnosis in a child presenting with animal bite and it is a serious threat to both mental health and physical well-being of pediatric population.

Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data.

Vulnerable Child Syndrome (VCS) occurs in the setting in which a child recovers from a life-threatening illness, as result of which the parent develops heightened parental perceptions of child vulnerability (PPCV). This leads to a pattern of overprotective parenting which may result in adverse neurodevelopmental and behavioral outcomes in the child over time. Parents of premature infants have been shown to be at increased risk of developing raised PPCV while their infants may develop symptoms of VCS.

Erosive Tooth Wear, Presence of Parafunctional Habits and Tooth Injuries-Occurrence in a Group of Children and Adolescents Exposed to Domestic Violence.

Objectives: To compare the prevalence of parafunctional habits, erosive tooth wear and occurrence of tooth injuries among children being under the care of Social Welfare Centre and children treated in the Department of Children's Dentistry of the Medical University of Warsaw.

Study Design: The study contains environmental and medical interviews, record-based analysis and clinical examination. Parafunctional habits were rated on the base of dental interviews and clinical examinations.