Adenylosuccinase (ADSL) deficiency is an autosomal recessive disorder affecting mainly the nervous system. The disease causes psychomotor retardation, frequently with autistic features and epilepsy. ADSL deficiency may be diagnosed by detection of two abnormal metabolites in body fluids--succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr). It is assumed that the former ...

BACKGROUND: Obstetric complications have been regarded as a risk factor for schizophrenia later in life. One of the mechanisms underlying the association is postulated to be a hypoxic process in the brain in the offspring around the time of birth. Hippocampus is one of the brain regions implicated in the ...

Infants born at extreme prematurity are at high risk of developmental disability. A major risk factor for disability is having a low level of thyroid hormone described as hypothyroxinaemia, which is recognised to be a frequent phenomenon in these infants. Derangements of critical thyroid function during the sensitive window in ...

Antegrade cerebral perfusion (ACP) is a cardiopulmonary bypass technique that uses special cannulation procedures to perfuse only the brain during neonatal and infant aortic arch reconstruction. It is used in lieu of deep hypothermic circulatory arrest (DHCA), and thus has the theoretical advantage of protecting the brain from hypoxic ischemic ...

OBJECTIVES: To evaluate the association between histologic inflammation of placenta and brain findings in ultrasound examinations and regional brain volumes in magnetic resonance imaging in very-low-birth-weight (VLBW) or in very preterm infants. STUDY DESIGN: VLBW or very preterm infants (n = 121) were categorized into 3 groups according to the ...

OBJECTIVE: To determine the understanding of the conceptual basis and diagnostic tests used for brain death (BD) by neurosurgeons in Canada. METHODS: Between February and June 2006, a previously developed survey was mailed to every neurosurgeon in Canada. RESULTS: Of 223 surveys mailed, 147 (66%) were returned; of these, 128 ...

Germinal matrix (GM) is a richly vascularized collection of neuronal-glial precursor cells in the developing brain, which is selectively vulnerable to hemorrhage in premature infants. It has rapid angiogenesis associated with high levels of vascular endothelial growth factor (VEGF). Because pericytes provide structural stability to blood vessels, we asked whether ...

OBJECTIVE: The purposes of our study were to employ diffusion tensor imaging (DTI)-based histogram analysis to determine the presence of occult damage in clinically isolated syndrome (CIS), to compare its severity with relapsing-remitting multiple sclerosis (RRMS), and to determine correlations between DTI histogram measures and clinical and MRI indices in ...

Arterial spin labeled (ASL) perfusion MRI provides a noninvasive approach for longitudinal imaging of regional brain function in infants. In the present study, continuous ASL (CASL) perfusion MRI was carried out in normally developing 7- and 13-month-old infants while asleep without sedation. The 13-month infant group showed an increase (P<0.05) ...

Computer finite element model (FEM) simulations are often used as a substitute for human experimental head injury studies to enhance our understanding of injury mechanisms and develop prevention strategies. While numerous adult FEM of the head have been developed, there are relatively few pediatric FEM due to the paucity of ...

AIM: To compare the prevalence of transient periventricular echodensities (TPE), periventricular leukomalacia (PVL) and haemorrhagic brain lesions (HBL) in singleton intrauterine growth-restricted (IUGR) infants and in those appropriate for gestational age (AGA). METHODS: Thirty-five IUGR and 35 AGA singleton infants born between 24- and 34-week gestational age were studied. The ...

As a potential disease-modifying treatment for AD, Alzhemed (tramiprosate) is a compound that binds to soluble amyloid-beta peptide (Abeta) and inhibits the formation of neurotoxic aggregates that lead to amyloid plaque deposition in the brain. The safety, tolerability, and pharmacodynamic effects of Alzhemed were assessed in a double-blind study in ...

Theanine (r-glutamylethylamide) is one of the major amino acid components in green tea. Recent studies suggest that theanine affects neurotransmission, especially inhibitory neurotransmission. In this study, we investigated whether theanine affects brain development in infant rats, because inhibitory neurotransmission is required for mature brain function. Mother rats were fed theanine ...

One of the practical problems in neuroimaging using near infrared spectroscopy (NIRS) is to choose an appropriate source-detector distance to maximize the sensitivity to cerebral blood oxygenation and to improve the spatial resolution for mapping cortical activation. While NIRS has attracted increasing attention in neuroimaging in infants, there has been ...

The holotype of Homo floresiensis, diminutive hominins with tiny brains living until 12,000 years ago on the island of Flores, is a partial skeleton (LB1) that includes a partial clavicle (LB1/5) and a nearly complete right humerus (LB1/50). Although the humerus appears fairly modern in most regards, it is remarkable ...

Lysosomal storage disorders constitute a large group of genetic diseases, many of which are characterized by mental retardation and other neurologic symptoms. The mechanisms of neural dysfunction remain poorly understood. Because neural progenitor cells (NPCs) are fundamentally important to normal brain development and function, we investigated NPC properties in a ...

OBJECTIVE: To review the clinical manifestation, predisposing factor location of abscess, causative organism, treatment, and outcome of brain abscess. STUDY DESIGN: Descriptive retrospective study. SETTING: Srinagarind Hospital, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen. MATERIAL AND METHOD: One hundred and seven infants and children with brain ...

OBJECTIVE: Utilizing a MEG-based device specifically designed to study the fetus, we investigated the presence of salient patterns in spontaneous fetal brain activity. METHODS: We performed 91 MEG recordings from 30 fetuses at various gestational ages. The tracings were evaluated and compared to the well-established electroencephalographic (EEG) features in premature ...

Preterm birth currently occurs in approximately 12% of pregnancies and appears to be increasing despite improvements in obstetric care. Improvements in neonatal care have led to increased survival, particularly at extreme prematurity, but survival may be associated with significant morbidity. This may be acute, reflecting the difficulties in supporting an ...

AIMS: Brain abnormalities are common in preterm infants and can be reliably detected by magnetic resonance (MR) imaging at term equivalent age. The aim of the present study was to acquire population based data on brain abnormalities in extremely low gestational age (ELGA) infants from the Stockholm region and to ...

Adenylosuccinate lyase (ADSL) deficiency is a rare disease of de novo purine synthesis. The main symptoms are psychomotor retardation, epilepsy, autistic features, occasionally associated with muscular hypotonia. Diagnosis is made by detection of abnormal purine metabolites (succinyladenosine - S-Ado and succinylaminoimidazole carboxamide riboside - SAICAr) in body fluids. The severity ...

This is the first report to demonstrate quantitative monitoring of infant brain development with frequency-domain near-infrared spectroscopy (FD-NIRS). Regionally specific increases in blood volume and oxygen consumption were measured in healthy infants during their first year. The results agree with prior PET and SPECT reports; but, unlike these methods, FD-NIRS ...

Inhaled nitric oxide (iNO) enhances ventilation in very preterm infants, but the effects on the brain remain uncertain. We evaluated the impact of iNO on brain growth and cerebral injury in a premature baboon model. Baboons were delivered at 125 d of gestation (term 185 d of gestation) and ventilated ...

A new method of assessing neurological function and pathology in the newborn infant is being developed based on the transmission of near-infrared light across the brain. Absorption by blood over a range of wavelengths reveals a strong dependency on oxygenation status, and measurements of transmitted light enable the spatial variation ...

Regional investigations of newborn MRI are important to understand the appearance and consequences of early brain injury. Previously, regionalization in neonates has been achieved with a Talairach parcellation, using internal landmarks of the brain. Non-synostotic dolichocephaly defines a bi-temporal narrowing of the preterm infant's head caused by pressure on the ...

The mechanisms underlying astrocyte heterogeneity in the developing mouse brain are poorly understood. The bHLH transcription factor Olig2 is essential for motoneuron and oligodendrocyte formation; however, its role in astrocyte development remains obscure. During cortical development, Olig2 is transiently expressed in immature developing astrocytes at neonatal stages and is progressively ...

Subdural haemorrhages (SDH) are associated with significant neurodisability in affected individuals. The incidence of SDH in infants is between 12 and 25 cases per 100,000 children and most detected SDH are due to physical abuse. In the infant brain, SDH are caused by tearing of the bridging veins in the ...

The lipid composition and molecular species of phospholipids were examined in the brain of a patient with Zellweger syndrome (ZS), and were compared with those of control infants. In the cerebral gray matter of the ZS patient, the amounts of ceramide monohexoside and cholesterol ester were larger than those of ...

Information processing speed is a central concept in cognitive psychology and neuropsychology. Previous studies have mostly focused on mean reaction time (RT), and largely ignored intra-individual differences (the standard deviation of the RT: sdRT). Still, intra-individual inconsistency across trials has been shown to correlate with age, neurological disorders, intelligence, and ...

BACKGROUND: Although the term brain death has been clinically and legally accepted as a death criterion, few data are published about public attitudes and beliefs concerning this topic. OBJECTIVES: To examine public understanding of brain death and how the term brain death affects decisions about organ donation. METHODS: Population-based cross-sectional ...

PURPOSE: To evaluate the brains of newborns exposed to buprenorphine prenatally. MATERIAL AND METHODS: Seven neonates followed up antenatally in connection with their mothers' buprenorphine replacement therapy underwent 1.5 T magnetic resonance imaging (MRI) of the brain before the age of 2 months. The infants were born to heavy drug ...

The maternal immune hypothesis (MIH) argues same sex attraction (SSA) results from maternal immune attack on fetal male-specific brain structures and involves the previous biological influence of elder brothers. One of the surveys supporting this is shown to be based on an unsuitable sample and to contain some strong contrary ...

This review explores the legitimacy of the whole brain death (WBD) criterion. I argue that it does not fulfill the traditional biologic definition of death and is, therefore, an unsound clinical and philosophical criterion for death. I dispute whether the clinical tests used to diagnose WBD are sufficient to prove ...

The search for causes of perinatal brain damage needs a solid theoretical foundation. Current theory apparently does not offer a unanimously accepted view of what constitutes a cause, and how it can be identified. We discuss nine potential theoretical misconceptions: (1) too narrow a view of what is a cause ...

Pineal melatonin regulates circadian rhythms and influences sleep. Melatonin also has protective actions against tissue damage from free-radicals and other toxins. Evidence is presented that this indoleamine is involved in pre- and postnatal brain (and ocular) development and intrauterine growth. In the absence of maternal melatonin, short gestation infants have ...

It is becoming increasingly clear that little in development is predetermined or permanently fixed. Rather, gene expression is activity dependent, and epigenesis is probabilistic. So, the study of genetic disorders needs to change from the still widely held view that developmental disorders can be accounted for in terms of intact ...

A new account of human postnatal functional brain development, interactive specialization (IS), is introduced and applied to one important domain of human development: the social brain. Behavioural, ERP and fMRI evidence from newborns, infants and children in face processing tasks is briefly reviewed, and is shown to be consistent with ...

A recent commentary defends 1) the concept of 'brain arrest' to explain what brain death is, and 2) the concept that death occurs at 2-5 minutes after absent circulation. I suggest that both these claims are flawed. Brain arrest is said to threaten life, and lead to death by causing ...

Our aim was to investigate the feasibility of studying white matter tracts and connections between the thalamus and the cortex in 2-year-old infants who were born preterm by probabilistic magnetic resonance (MR) tractography. Using this approach, we were able to visualize and quantify connectivity distributions in a number of white ...

There is very limited information about the developmental outcome of the late preterm infant. The developing brain is vulnerable to injury during this very active and important stage of fetal brain development; therefore, it is important to carefully monitor the neurologic outcome of these infants. This article discusses gestational brain ...

The definition of death has evolved to include the concept of brain death. The brainstem is an indispensable central integrative unit for all vital functions. The clinical criteria for brain death consist of the demonstration of the absence of function of the brainstem. Confirmatory testing, which mostly evaluates higher clinical ...

PURPOSE OF REVIEW: To review the unique pattern of developmentally regulated factors that govern the susceptibility of the brain during the preterm and term windows of development. RECENT FINDINGS: The neonatal brain shows unique regional differences in susceptibility to injury. In response to the common insult of hypoxia/ischemia, the preterm ...

PURPOSE OF REVIEW: This review summarizes for the pediatrician the current understanding of normal cerebellar and brainstem development, and then discusses selected malformations to highlight advances in the area. The impact of prematurity on cerebellar growth and development is then examined. The important insights provided by recent neuroimaging and genetic ...

BACKGROUND: The authors used the American Society of Anesthesiologists Closed Claims Project database to determine changes in the proportion of claims for death or permanent brain damage over a 26-yr period and to identify factors associated with the observed changes. METHODS: The Closed Claims Project is a structured evaluation of ...

Intrauterine growth restriction (IUGR) is failure of the fetus to achieve his or her intrinsic growth potential, due to anatomical/functional diseases or disorders in the feto-placental-maternal unit. Growth restriction successfully balances reduced oxygen delivery and consumption; however, chronic hypoxia is responsible for fetal blood flow redistribution to cardinal organs (brain, ...

When a baby is born, the first medical pronouncement is usually, "It's a boy," or "It's a girl." In most cases, this pronouncement is based simply upon the appearance of the child's external genitalia. Due to variations in the process of sexual differentiation, sometimes the gender that should be assigned ...

PURPOSE OF REVIEW: Clinicians are actively looking for an effective brain protection technique. With pharmacologic agents, several phase III trials in stroke, severe traumatic brain injury, and post-cardiac arrest survivors have failed. Hence there is renewed interest in mild to moderate hypothermia for brain protection. Phase III clinical trials with ...

Neuroanatomical structure appears to be altered in preterm infants, but there has been little insight into the major perinatal risk factors associated with regional cerebral structural alterations. MR images were taken to quantitatively compare regional brain tissue volumes between term and preterm infants and to investigate associations between perinatal risk ...

The present study examined infants' brain activity in response to upright and inverted faces using near infrared spectroscopy (NIRS), which can non-invasively record hemodynamic changes of the brain. NIRS is particularly useful for recording in infants, since recordings can be made, even while the infants are awake, without fixing their ...

OBJECTIVE: Barbiturate therapy or hypothermia precludes proper diagnosis of brain death either clinically or by EEG. Specific intracranial flow patterns indicating cerebral circulatory arrest (CCA) can be visualized by transcranial Doppler ultrasonography (TCD). The aim of this study was to assess the validity of TCD in confirming brain death. DESIGN: ...