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Brain 2021 Jun 11. Epub 2021 Jun 11.

Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France.

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy ((AD)SHE) to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies (DEE). This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 unpreviously published and 182 published cases, the largest cohort reported so far. Read More

Ginekol Pol 2021 Jun 9. Epub 2021 Jun 9.

Department of Obstetrics, Maternal and child health hospital of Hunan Province Changsha, Hunan, China.

Objectives: Preeclampsia is one of the most feared complications of pregnancy, which can progress rapidly to serious complications such as death of both mother and fetus. To present, the leading cause of preeclampsia is still debated. The purpose of this article was to explore the clinical significance of S100B protein, a kind of Ca2+ -sensor protein, in the early-onset severe preeclampsia. Read More

Pediatr Infect Dis J 2021 Jul;40(7):655-662

From the Department of Infectious Diseases.

Background: The epidemiology and clinical course of Clostridioides difficile infection (CDI) in children, especially with cancer, are poorly defined. We aim to describe the epidemiology, clinical features and outcomes of CDI and to identify risk factors for recurrence in a pediatric oncology center.

Methods: This is a retrospective cohort study of CDI in pediatric oncology and hematopoietic stem cell transplant (HSCT) patients in 2016 and 2017. Read More

JAMA Pediatr 2021 Jun 7. Epub 2021 Jun 7.

Department of Pediatrics, The University of Utah School of Medicine, Salt Lake City.

Importance: The National Pediatric Readiness Project is a US initiative to improve emergency department (ED) readiness to care for acutely ill and injured children. However, it is unclear whether high ED pediatric readiness is associated with improved survival in US trauma centers.

Objective: To evaluate the association between ED pediatric readiness, in-hospital mortality, and in-hospital complications among injured children presenting to US trauma centers. Read More

Aging Dis 2021 Jun 1;12(3):764-785. Epub 2021 Jun 1.

1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disease caused by mutations in the X-linked gene. Children affected by CDD display a clinical phenotype characterized by early-onset epilepsy, intellectual disability, motor impairment, and autistic-like features. Although the clinical aspects associated with mutations are well described in children, adults with CDD are still under-characterized. Read More

J Pediatr Surg 2021 May 8. Epub 2021 May 8.

Department of Pediatric Surgery, Poznan University of Medical Sciences, Poznan, Poland.

Background/purpose: Neuroblastic tumors are the most common pediatric extracranial solid tumors in infants and very young children. Although, especially in newborns, there is an increasing number of situations in which observation alone is used, surgery remains an important step in the treatment of neuroblastoma but can be complicated by arterial vasospasm in the surgical field. The aim of this two-center retrospective study was to analyze the occurrence of arterial constriction as a complication of neuroblastic tumors resection. Read More

Cureus 2021 May 1;13(5):e14792. Epub 2021 May 1.

Internal Medicine, Newark Beth Israel Medical Center, Newark, USA.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease marked by high cytokine levels, uncontrolled lymphocyte, and macrophage proliferation. It is generally a systemic disorder with varying degrees of central nervous system (CNS) involvement, with the vast majority of cases affecting children. We report a case of CNS-HLH in a 51-year-old male who initially presented with fevers, night sweats, fatigue, bilateral arthralgia, and altered mental status. Read More

Front Artif Intell 2021 17;4:635766. Epub 2021 May 17.

Institute of Medical Science, University of Toronto, Toronto, ON, Canada.

Brain tumor is one of the leading causes of cancer-related death globally among children and adults. Precise classification of brain tumor grade (low-grade and high-grade glioma) at an early stage plays a key role in successful prognosis and treatment planning. With recent advances in deep learning, artificial intelligence-enabled brain tumor grading systems can assist radiologists in the interpretation of medical images within seconds. Read More

Sci Adv 2021 Jun 2;7(23). Epub 2021 Jun 2.

Department of Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.

Pediatric high-grade gliomas (pHGGs), including glioblastoma multiforme (GBM) and diffuse intrinsic pontine glioma (DIPG), are morbid brain tumors. Even with treatment survival is poor, making pHGG the number one cause of cancer death in children. Up to 80% of DIPGs harbor a somatic missense mutation in genes encoding histone H3. Read More

Clin Transl Sci 2021 Jun 2. Epub 2021 Jun 2.

BioMarin Pharmaceutical Inc., Novato, California, USA.

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an ultra-rare pediatric neurodegenerative disorder characterized by deficiency of the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). In the absence of adequate TPP1, lysosomal storage material accumulation occurs in the central nervous system (CNS) accompanied by neurodegeneration and neurological decline that culminates in childhood death. Cerliponase alfa is a recombinant human TPP1 enzyme replacement therapy administered via intracerebroventricular infusion and approved for the treatment of CLN2 disease. Read More

Nat Commun 2021 06 1;12(1):3270. Epub 2021 Jun 1.

Department of Obstetrics and Gynaecology, West French Guiana Hospital Center, French Guiana, France.

Little is known about the long-term neurological development of children diagnosed with congenital Zika infection at birth. Here, we report the imaging and clinical outcomes up to three years of life of a cohort of 129 children exposed to Zika virus in utero. Eighteen of them (14%) had a laboratory confirmed congenital Zika infection at birth. Read More

Int J Environ Res Public Health 2021 May 14;18(10). Epub 2021 May 14.

Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh 11451, Saudi Arabia.

Objective: Fever alone can lead to rare serious complications in children, such as febrile seizures. The aim of this study is to assess the knowledge, beliefs, and behavior of parents toward fever and its management.

Methods: A cross-sectional study using an online questionnaire was applied over a period of 3 months, from January to March 2018, to parents who were living in Saudi Arabia. Read More

Int J Mol Sci 2021 May 10;22(9). Epub 2021 May 10.

Department of Neuroscience, Psycology, Drug Research and Child Health (NEUROFARBA), Section of Pharmacology and Toxicology, University of Florence, 50139 Florence, Italy.

Ischemic stroke is a leading cause of death and disability worldwide. The only pharmacological treatment available to date for cerebral ischemia is tissue plasminogen activator (t-PA) and the search for successful therapeutic strategies still remains a major challenge. The loss of cerebral blood flow leads to reduced oxygen and glucose supply and a subsequent switch to the glycolytic pathway, which leads to tissue acidification. Read More

Rev Environ Health 2021 Feb 20;19(3-4):347-362. Epub 2021 Feb 20.

University of the Witwatersrand,Johannesburg, South Africa.

Lead is a toxic heavy metal that has been used extensively in modern society, causing widespread environmental contamination even in isolated parts of the world. Irrefutable evidence associates lead at different exposure levels with a wide spectrum of health and social effects, including mild intellectual impairment, hyperactivity, shortened concentration span, poor school performance, violent/aggressive behavior, and hearing loss. Lead has an impact on virtually all organ systems, including the heart, brain, liver, kidneys, and circulatory system, resulting in coma and death in severe cases. Read More

J Enzyme Inhib Med Chem 2021 Dec;36(1):964-976

Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), Division of Pharmacology and Toxicology, University of Florence, Florence, Italy.

Ischaemic stroke is a leading cause of death and disability. One of the major pathogenic mechanisms after ischaemia includes the switch to the glycolytic pathway, leading to tissue acidification. Carbonic anhydrase (CA) contributes to pH regulation. Read More

Pediatr Res 2021 May 28. Epub 2021 May 28.

Institute for Women's Health, University College London, London, UK.

Background: Perinatal inflammation combined with hypoxia-ischemia (HI) exacerbates injury in the developing brain. Therapeutic hypothermia (HT) is standard care for neonatal encephalopathy; however, its benefit in inflammation-sensitized HI (IS-HI) is unknown.

Methods: Twelve newborn piglets received a 2 µg/kg bolus and 1 µg/kg/h infusion over 52 h of Escherichia coli lipopolysaccharide (LPS). Read More

Neuroradiol J 2021 May 28:19714009211019381. Epub 2021 May 28.

Edward B Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, USA.

A retrospective study was performed evaluating the volume and T2/T1 signal intensity of orbital fat in five children diagnosed with severe global brain swelling and confirmed cessation of cerebral perfusion. Imaging showed a volume increase (five of five) and a heterogeneous T2-hypointensity of orbital fat (four of five). This preliminary study suggests that swelling and T2-hypointensity of orbital fat may be a marker of global brain swelling and/or increased intracranial pressure. Read More

Ann Clin Transl Neurol 2021 May 28. Epub 2021 May 28.

IRCCS Istituto Giannina Gaslini, Genova, Italy.

The influence of the central nervous system and autonomic system on cardiac activity is being intensively studied, as it contributes to the high rate of cardiologic comorbidities observed in people with epilepsy. Indeed, neuroanatomic connections between the brain and the heart provide links that allow cardiac arrhythmias to occur in response to brain activation, have been shown to produce arrhythmia both experimentally and clinically. Moreover, seizures may induce a variety of transient cardiac effects, which include changes in heart rate, heart rate variability, arrhythmias, asystole, and other ECG abnormalities, and can trigger the development of Takotsubo syndrome. Read More

Arch Dis Child Fetal Neonatal Ed 2021 May 27. Epub 2021 May 27.

Pediatrics, University of Iowa, Iowa City, Iowa, USA

Objective: Our aim was to determine whether right ventricular (RV) dysfunction at 24-hour postnatal age predicts adverse developmental outcome among patients with hypoxic ischaemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH).

Design: Neonates≥35 weeks with HIE/TH were enrolled in a physiological study in the neonatal period (n=46) and either died or underwent neurodevelopmental follow-up at 18 months (n=43). The primary outcome was a composite of death, diagnosis of cerebral palsy or any component of the Bayley Scores of Infant Development III<70. Read More

Clin Exp Pediatr 2021 May 24. Epub 2021 May 24.

Department of Neurology and Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

Hypoxic-ischemic encephalopathy (HIE) is the most common cause of neonatal encephalopathy with a global incidence of approximately 1 to 8 per 1,000 live births. Neonatal encephalopathy can cause neurodevelopmental and cognitive impairments in survivors of hypoxic-ischemic insults with and without functional motor deficits. Normal neurodevelopmental outcomes in early childhood does not preclude cognitive and behavioral difficulties in late childhood and adolescence because cognitive functions are not yet fully developed at this early age. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2021 May;23(5):536-541

Neonatal Center, Beijing Children's Hospital, Capital Medical University/National Center for Child Health, Beijing 100045, China.

Neonatal hypoxic-ischemic brain damage (HIBD) remains an important cause of neonatal death and disability in infants and young children, but it has a complex mechanism and lacks specific treatment methods. As a new type of programmed cell death, ferroptosis has gradually attracted more and more attention as a new therapeutic target. This article reviews the research advances in abnormal iron metabolism, glutamate antiporter dysfunction, and abnormal lipid peroxide regulation which are closely associated with ferroptosis and HIBD. Read More

Scand J Trauma Resusc Emerg Med 2021 May 20;29(1):67. Epub 2021 May 20.

Department of Critical Care Medicine, Children's Hospital, Chongqing Medical University, 136# Zhongshan Er Road, Yu Zhong District, 400014, Chongqing, People's Republic of China.

Background: Coagulopathy in adult patients with traumatic brain injury (TBI) is strongly associated with unfavorable outcomes. However, few reports focus on pediatric TBI-associated coagulopathy.

Methods: We retrospectively identified children with Glasgow Coma Scale ≤ 13 in a tertiary pediatric hospital from April 2012 to December 2019 to evaluate the impact of admission coagulopathy on their prognosis. Read More

Orphanet J Rare Dis 2021 May 19;16(1):229. Epub 2021 May 19.

Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

Background: Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-targeted gene therapy in Ethe1 mouse model, we successfully attempted liver transplantation in a 9-month-old EE girl. Here we report her long-term follow-up, lasting over 6 years, with a comprehensive evaluation of clinical, instrumental and biochemical assessments. Read More

Am J Case Rep 2021 May 18;22:e930926. Epub 2021 May 18.

Department of Anaesthesiology and Intensive Care Medicine, Faculty of Medicine, Masaryk University Brno and University Hospital, Brno, Czech Republic.

BACKGROUND The care and management of brain-dead pregnant women is surrounded by legal and ethical controversies. Gestational age is directly proportional to newborn survival. We report a case of a brain-dead pregnant woman at the 16th week of gestation and the successful delivery of a healthy child after 117 days of maternal somatic support. Read More

J Transl Med 2021 05 17;19(1):214. Epub 2021 May 17.

The Feinstein Institutes for Medical Research, Northwell Health System, 350 Community Drive, Manhasset, NY, USA.

Background: Mitochondria are essential organelles that provide energy for cellular functions, participate in cellular signaling and growth, and facilitate cell death. Based on their multifactorial roles, mitochondria are also critical in the progression of critical illnesses. Transplantation of mitochondria has been reported as a potential promising approach to treat critical illnesses, particularly ischemia reperfusion injury (IRI). Read More

Ann Neurol 2021 May 17. Epub 2021 May 17.

Department of Child Neurology, Justus-Liebig-University, Giessen, Germany.

Objective: Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). We aimed to clarify the genetic cause in a group of patients characterized by hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy. Read More

Pediatr Radiol 2021 May 17;51(6):966-970. Epub 2021 May 17.

Department of Radiology, University of Arkansas for Medical Sciences (UAMS), Little Rock, AR, USA.

Abusive head trauma (AHT) is a leading cause of mortality and morbidity in child abuse, with a mortality rate of approximately 25%. In survivors, the prognosis remains dismal, with high prevalence of cerebral palsy, epilepsy and neuropsychiatric disorders. Early and accurate diagnosis of AHT is challenging, both clinically and radiologically, with up to one-third of cases missed on initial examination. Read More

Avicenna J Med 2021 Apr-Jun;11(2):63-69. Epub 2021 Apr 19.

Initiative on Islam and Medicine, Chicago, IL, USA.

Background: Biotechnology has introduced a new physiological state, "brain death," that continues to attract controversy and confusion. While variability in diagnostic criteria for, and physician practices regarding, "brain death" has been studied, few studies examine physicians' normative views on the significance of "brain death" and how religiosity implicates these views.

Objective: The objective is to assess how Muslim physicians' views on death, and how their religiosity and acculturation, associate with their perceptions of "brain death. Read More

Orphanet J Rare Dis 2021 May 14;16(1):221. Epub 2021 May 14.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

Background: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now available and has shown to delay disease progression in symptomatic patients. It is yet unknown if cerliponase alfa can prevent disease onset in presymptomatic patients. Read More