Search Our Scientific Publications & Authors

Brain Dev 2022 Jun 23. Epub 2022 Jun 23.

Department of Pediatrics, Juntendo University Nerima Hospital, Japan. Electronic address:

Background: Organ transplantation after brain death (BD) of the donor has been promoted in many countries as an established medical treatment. However, some problems with brain-dead organ transplantation have been reported. For example, there is no evidence as to the optimal observation period for a diagnosis and no evidence to support the interpretation of the various body movements observed after the determination of BD. Read More

Pharmaceuticals (Basel) 2022 May 26;15(6). Epub 2022 May 26.

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, MA 02215, USA.

Pediatric brain tumors have surpassed leukemia as the leading cause of cancer-related death in children. Several landmark studies from the last two decades have shown that many pediatric brain tumors are driven by epigenetic dysregulation within specific developmental contexts. One of the major determinants of epigenetic control is the histone code, which is orchestrated by a number of enzymes categorized as writers, erasers, and readers. Read More

Children (Basel) 2022 May 30;9(6). Epub 2022 May 30.

Department of Pediatrics, Inha University Hospital, Incheon 22332, Korea.

The term "shaken baby syndrome" has been replaced by "abusive head trauma (AHT)" based on the mechanism of injury. The reported mortality rate of AHT ranges from 10% to 30%. Up to two-thirds of survivors suffer from serious long-term disabilities. Read More

Cold Spring Harb Mol Case Stud 2022 Jun 22;8(4). Epub 2022 Jun 22.

Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida (UCF), Orlando, Florida 32816, USA.

Schwannomatosis is a rare genetic disorder that predisposes individuals to development of multiple schwannomas mainly in spinal and peripheral nerves and to debilitating chronic pain often unrelated to any schwannoma. Pathogenic variants of two genes, and , are causal in familial cases. However, many schwannomatosis patients lack mutations in these genes. Read More

Cancer Genomics Proteomics 2022 Jul-Aug;19(4):390-414

Women's Health Research Unit, Queen Mary University of London, London, U.K.

Brain tumours are the leading cause of paediatric cancer-associated death worldwide. High-grade glioma (HGG) represents a main cause of paediatric brain tumours and is associated with poor prognosis despite surgical and chemoradiotherapeutic advances. The molecular genetics of paediatric HGG (pHGG) are distinct from those in adults, and therefore, adult clinical trial data cannot be extrapolated to children. Read More

Pediatr Radiol 2022 Jun 22. Epub 2022 Jun 22.

Department of Pediatrics, Pediatric Intensive Care Unit, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.

Background: The diagnosis of brain death is primarily clinical. Sometimes ancillary tests are needed.

Objective: This study compared sensitivity and interobserver agreement of the 10-, 7- and 4-point CT angiography scoring systems for the diagnosis of brain death in children. Read More

Neuropathology 2022 Jun 22. Epub 2022 Jun 22.

Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Angiomatoid fibrous histiocytomas (AFH) is a rare soft tissue tumor of intermediate malignant potential, and its histology is diverse. It can occur in several organs including intracranial and soft tissues. Here, we report two cases of brain parenchymal classic AFH and spinal extramedullary myxoid mesenchymal tumor with clinicopathological and molecular investigations by next-generation sequencing and a comprehensive review. Read More

J Neurol Sci 2022 Jun 16;439:120321. Epub 2022 Jun 16.

Department of Pediatrics, Aizenbashi Hospital, Osaka, Japan.

Objective: Hemorrhagic shock and encephalopathy syndrome (HSES) is a severe subtype of acute encephalopathy with a poor prognosis. The factors associated with acute neurological outcomes in patients with HSES remain unclear. This study aimed to determine the clinical features, laboratory and radiological findings, and treatments that determine the acute outcomes of HSES. Read More

Front Pediatr 2022 2;10:890405. Epub 2022 Jun 2.

Postgraduate Program in Child and Adolescent Health, Department of Pediatrics, University of Campinas, Campinas, Brazil.

Besides ensuring a quick response and transport of trauma victims, helicopter support also involves risks to patients and professionals and has higher operational costs. Studying prehospital triage criteria and their relationship with patient overtriage and outcomes is important, particularly in newly established services and in developing countries with limited health budgets. This could help improve the use of the helicopter rescue and provide better management of the costs and risks related to it. Read More

Front Endocrinol (Lausanne) 2022 2;13:876903. Epub 2022 Jun 2.

Congenital Hyperinsulinism International, Glen Ridge, NJ, United States.

Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. There are many areas of need for HI research. Some of the most critical needs include describing the natural history of the disease, research leading to new and better treatments, and identifying and managing hypoglycemia before it is prolonged and causes brain damage or death. Read More

J Am Acad Dermatol 2022 Jun 15. Epub 2022 Jun 15.

Department of Dermatology, Massachusetts General Hospital, Boston, MA; Dermatology Program, Department of Allergy and Immunology, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.

Background: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system, prompting MRI screening guidelines.

Objective: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes.

Methods: Retrospective review of individuals aged ≤ 18 years with an MRI of brain and/or spine and at least 1 dermatologist-diagnosed CMN. Read More

Stem Cell Res Ther 2022 Jun 17;13(1):261. Epub 2022 Jun 17.

University of New England, Armidale, Australia.

Background: Older companion dogs naturally develop a dementia-like syndrome with biological, clinical and therapeutic similarities to Alzheimer disease (AD). Given there has been no new safe, clinically effective and widely accessible treatment for AD for almost 20 years, an all-new cell therapeutic approach was trialled in canine veterinary patients, and further modelled in aged rats for more detailed neurobiological analysis.

Methods: A Phase 1/2A veterinary trial was conducted in N = 6 older companion dogs with definitive diagnosis of Canine Cognitive Dysfunction (CCD). Read More

Lancet Glob Health 2022 Jul;10(7):e989-e1002

National Institute of Hygiene and Epidemiology, Hanoi, Vietnam.

Background: Encephalitis is a worldwide public health issue, with a substantially high burden among children in southeast Asia. We aimed to determine the causes of encephalitis in children admitted to hospitals across the Greater Mekong region by implementing a comprehensive state-of-the-art diagnostic procedure harmonised across all centres, and identifying clinical characteristics related to patients' conditions.

Methods: In this multicentre, observational, prospective study of childhood encephalitis, four referral hospitals in Cambodia, Vietnam, Laos, and Myanmar recruited children (aged 28 days to 16 years) who presented with altered mental status lasting more than 24 h and two of the following minor criteria: fever (within the 72 h before or after presentation), one or more generalised or partial seizures (excluding febrile seizures), a new-onset focal neurological deficit, cerebrospinal fluid (CSF) white blood cell count of 5 per mL or higher, or brain imaging (CT or MRI) suggestive of lesions of encephalitis. Read More

Dev Med Child Neurol 2022 Jun 16. Epub 2022 Jun 16.

Clinical Neurophysiology, Roger Salengro Hospital, Centre, Lille, France.

Aim: To determine the prognostic value of conventional electroencephalography (EEG) monitoring in neonatal hypoxic-ischemic encephalopathy (HIE).

Method: In this multicentre retrospective study, 95 full-term neonates (mean of 39.3wks gestational age [SD  1. Read More

Rural Remote Health 2022 Jun 15;22(2):7241. Epub 2022 Jun 15.

NORC at the University of Chicago, Bethesda, MD, USA

Introduction: There is some evidence to suggest that Americans living in rural areas are at increased risk for sustaining a traumatic brain injury (TBI) compared to those living in urban areas. In addition, once a TBI has been sustained, rural residents have worse outcomes, including a higher risk of death. Individuals living in rural areas tend to live farther from hospitals and have less access to TBI specialists. Read More

J Adv Res 2022 Jun 11. Epub 2022 Jun 11.

Department of Breast Surgery, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China; Department of Oncology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China. Electronic address:

Introduction: Cancer is the leading cause of death among children.

Objectives: We report on the latest estimates of the burden of cancer among children at the global, regional, and national levels from 1990 to 2019.

Methods: Based on the Global Burden of Disease Study 2019, children's cancer data were analyzed by sex, age, year, and location. Read More

Front Neurol 2022 24;13:894565. Epub 2022 May 24.

Office of Chief Medical Examiner, New York, NY, United States.

Two years into the COVID-19 pandemic, there are few published accounts of postmortem SARS-CoV-2 pathology in children. We report 8 such cases (4 infants aged 7-36 weeks, 4 children aged 5-15 years). Four underwent magnetic resonance neuroimaging, to assist in identification of subtle lesions related to vascular compromise. Read More

West J Emerg Med 2022 May 2;23(3):324-333. Epub 2022 May 2.

The Ohio State University, Department of Emergency Medicine, Columbus, Ohio.

Introduction: Thoracic trauma is the second leading cause of death after traumatic brain injury in children presenting with blunt chest trauma, which represents 80% of thoracic trauma in children. We hypothesized that older children undergo more clinical and surgical changes in management than younger children screened for intrathoracic injury at a single, urban, pediatric Level I trauma center.

Methods: In this retrospective observational study, we determined the frequencies and types of lesions diagnosed only by chest computed tomography (CCT) and resulting changes of clinical and surgical management among different age groups in a pediatric cohort examined for blunt trauma with chest radiograph and CCT. Read More

Br J Nurs 2022 Jun;31(11):600-602

Senior Lecturer in Health Law at Swansea University.

, Senior Lecturer in Health Law at Swansea University, considers how death is determined in cases of severe brain damage after the High Court order doctors to carry out tests to establish whether a child had died. Read More

BMC Psychiatry 2022 06 7;22(1):385. Epub 2022 Jun 7.

Department of Psychiatry, The Second Xiangya Hospital, Central South University, National Clinical Research Center for Mental Disorders, National Technology Institute on Mental Disorders, Hunan Key Laboratory of Psychiatry and Mental Health, Renming Road 139, Changsha, 410011, Hunan Province, China.

Background: The coexistence of self-harm and aggression, which is referred to as dual-harm, is commonly seen in forensic population. Self-harm and aggression have often been studied separately, previous studies on risk factors of aggression or self-harm mainly focused on childhood adversities, emotional regulation, impulsivity and psychopathology, given their importance in the two behaviors. However, the factors associated with dual-harm remain unclear. Read More

Neurologia (Engl Ed) 2022 Jun 29;37(5):383-389. Epub 2021 Apr 29.

Servicio de Neurocirugía, Hospital Universitario La Paz, Madrid, Spain.

Introduction: Traumatic brain injury (TBI) is one of the leading causes of death and disability globally. We present a study describing epidemiological changes in severe TBI and the impact these changes have had on management and analysing alternatives that may improve outcomes in this new population.

Materials And Methods: We performed a retrospective, descriptive, cross-sectional analysis of patients presenting severe TBI at our hospital in the period of 1992-1996 and 2009-2013. Read More

BMC Pediatr 2022 Jun 7;22(1):329. Epub 2022 Jun 7.

Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.

Background: Aminoacyl-tRNA synthetases (ARSs) are enzymes responsible for attaching amino acids to tRNA, which enables protein synthesis. Mutations in isoleucyl-tRNA synthetase (IARS1) have recently been reported to be a genetic cause for growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH).

Case Presentation: In this study, we reported an additional case of compound heterozygous missense variations c. Read More

Leg Med (Tokyo) 2022 May 31;58:102098. Epub 2022 May 31.

Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Hankou, Wuhan, PR China. Electronic address:

Influenza occasionally causes central nervous system disorders. Acute necrotizing encephalopathy (ANE) is one of the most severe influenza-associated complications, predominantly affecting infants and young children under 5 years of age. We present this case as it involves a very rare complication of influenza infection that is known to have a high rate of mortality. Read More

PLoS One 2022 2;17(6):e0263595. Epub 2022 Jun 2.

Barts Health NHS Trust, London, United Kingdom of Great Britain and Northern Ireland.

Background: Neurological COVID-19 disease has been reported widely, but published studies often lack information on neurological outcomes and prognostic risk factors. We aimed to describe the spectrum of neurological disease in hospitalised COVID-19 patients; characterise clinical outcomes; and investigate factors associated with a poor outcome.

Methods: We conducted an individual patient data (IPD) meta-analysis of hospitalised patients with neurological COVID-19 disease, using standard case definitions. Read More

Pediatr Blood Cancer 2022 Jun 2:e29792. Epub 2022 Jun 2.

Institute of Bioethics and History of Medicine, University of Zürich, Zurich, Switzerland.

Background: Diffuse intrinsic pontine glioma (DIPG) is a rare, but lethal pediatric brain tumor with a median survival of less than 1 year. Existing treatment may prolong life and control symptoms, but may cause toxicity and side effects. In order to improve child- and family-centered care, we aimed to better understand the treatment decision-making experiences of parents, as studies on this topic are currently lacking. Read More

Front Genet 2022 16;13:872264. Epub 2022 May 16.

Department of Prenatal Screening and Diagnosis Center, Affiliated Matern & Child Care Hospital of Nantong University, Nantong, China.

The gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA). Here, we report a girl of Chinese ancestry with intrauterine growth restriction, microcephaly, postnatal developmental delay, arthrogryposis, hypertonicity, seizure, and hypomyelination on brain magnetic resonance imaging; biallelic null variants (c. Read More

Am J Forensic Med Pathol 2022 May 30. Epub 2022 May 30.

From the Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC.

Abstract: Sudden unexplained death in epilepsy (SUDEP) is the most common cause of death in children and young adults with epilepsy with epileptic patients harboring a 27 times increased risk of death from SUDEP. Structural brain lesions are encountered in up to 50% of autopsy cases. In this case series, we report 3 previously undiagnosed structural causes of SUDEP discovered at autopsy at our institution including schizencephaly, ganglioglioma, and focal cortical dysplasia. Read More

J Heart Lung Transplant 2022 May 4. Epub 2022 May 4.

Department of Cardiology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom; Department of Cardiothoracic Transplant, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.

Background: Limited availability of suitable donor hearts remains a challenge to pediatric heart transplantation, contributing to waitlist mortality. Controlled donation after circulatory death (DCD) has demonstrated success in adults. Early series of pediatric DCD heart transplantation using cold storage alone reported significant early mortality. Read More

Arch Pediatr 2022 May 27. Epub 2022 May 27.

Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Department of Pediatric Emergency Care, Izmir, Turkey. Electronic address:

Objectives: To evaluate the factors associated with intensive care requirement and mortality in pediatric myocarditis.

Methods: Children aged 28 days to 18 years who were diagnosed with acute myocarditis in a pediatric emergency department between January 2010 and September 2020 were enrolled in the study retrospectively. Demographic and clinical features, cardiac biomarkers, and imaging findings were evaluated. Read More

Pathogens 2022 Apr 21;11(5). Epub 2022 Apr 21.

Faculty of Medicine, Universidade Eduardo Mondlane, Maputo 1113, Mozambique.

Group A Streptococcus (GAS) causes superficial and invasive infections and immune mediated post-infectious sequalae (including acute rheumatic fever/rheumatic heart disease). Acute rheumatic fever (ARF) and rheumatic heart disease (RHD) are important determinants of global cardiovascular morbidity and mortality. ARF is a multiorgan inflammatory disease that is triggered by GAS infection that activates the innate immune system. Read More