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https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#1
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27915378/mother-infant-interactions-and-regional-brain-volumes-in-infancy-an-mri-study
#2
Vaheshta Sethna, Inês Pote, Siying Wang, Maria Gudbrandsen, Anna Blasi, Caroline McCusker, Eileen Daly, Emily Perry, Kerrie P H Adams, Maria Kuklisova-Murgasova, Paula Busuulwa, Sarah Lloyd-Fox, Lynne Murray, Mark H Johnson, Steven C R Williams, Declan G M Murphy, Michael C Craig, Grainne M McAlonan
It is generally agreed that the human brain is responsive to environmental influences, and that the male brain may be particularly sensitive to early adversity. However, this is largely based on retrospective studies of older children and adolescents exposed to extreme environments in childhood. Less is understood about how normative variations in parent-child interactions are associated with the development of the infant brain in typical settings. To address this, we used magnetic resonance imaging to investigate the relationship between observational measures of mother-infant interactions and regional brain volumes in a community sample of 3- to 6-month-old infants (N = 39)...
December 3, 2016: Brain Structure & Function
https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#3
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
November 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27911245/use-of-magnetic-resonance-imaging-to-detect-occult-spinal-dysraphism-in-infants
#4
Brent R O'Neill, Danielle Gallegos, Alex Herron, Claire Palmer, Nicholas V Stence, Todd C Hankinson, C Corbett Wilkinson, Michael H Handler
OBJECTIVE Cutaneous stigmata or congenital anomalies often prompt screening for occult spinal dysraphism (OSD) in asymptomatic infants. While a number of studies have examined the results of ultrasonography (US) screening, less is known about the findings when MRI is used as the primary imaging modality. The object of this study was to assess the results of MRI screening for OSD in infants. METHODS The authors undertook a retrospective review of all infants who had undergone MRI of the lumbar spine to screen for OSD over a 6-year period (September 2006-September 2012)...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27910866/biomechanical-analysis-of-normal-brain-development-during-the-first-year-of-life-using-finite-strain-theory
#5
Jeong Chul Kim, Li Wang, Dinggang Shen, Weili Lin
The first year of life is the most critical time period for structural and functional development of the human brain. Combining longitudinal MR imaging and finite strain theory, this study aimed to provide new insights into normal brain development through a biomechanical framework. Thirty-three normal infants were longitudinally imaged using MRI from 2 weeks to 1 year of age. Voxel-wise Jacobian determinant was estimated to elucidate volumetric changes while Lagrange strains (both normal and shear strains) were measured to reveal directional growth information every 3 months during the first year of life...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905410/association-between-preterm-brain-injury-and-exposure-to-chorioamnionitis-during-fetal-life
#6
Devasuda Anblagan, Rozalia Pataky, Margaret J Evans, Emma J Telford, Ahmed Serag, Sarah Sparrow, Chinthika Piyasena, Scott I Semple, Alastair Graham Wilkinson, Mark E Bastin, James P Boardman
Preterm infants are susceptible to inflammation-induced white matter injury but the exposures that lead to this are uncertain. Histologic chorioamnionitis (HCA) reflects intrauterine inflammation, can trigger a fetal inflammatory response, and is closely associated with premature birth. In a cohort of 90 preterm infants with detailed placental histology and neonatal brain magnetic resonance imaging (MRI) data at term equivalent age, we used Tract-based Spatial Statistics (TBSS) to perform voxel-wise statistical comparison of fractional anisotropy (FA) data and computational morphometry analysis to compute the volumes of whole brain, tissue compartments and cerebrospinal fluid, to test the hypothesis that HCA is an independent antenatal risk factor for preterm brain injury...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27902983/perinatal-asphyxia-and-erythropoietin-and-vegf-serial-serum-and-cerebrospinal-fluid-responses
#7
Deirdre U Sweetman, Chike Onwuneme, William R Watson, John F A Murphy, Eleanor J Molloy
BACKGROUND: Infants with neonatal encephalopathy (NE) of hypoxic-ischaemic origin are at risk of oxidative and ischaemia-reperfusion injury, which may induce abnormal inflammatory responses involving excessive cytokine production and release in serum and cerebrospinal fluid (CSF). Systemic inflammation is found in infants with NE, and we therefore were interested in cytokines associated with hypoxia, including vascular endothelial growth factor (VEGF) and erythropoietin (Epo). OBJECTIVE: To investigate the relationship between Epo, VEGF levels, brain injury and outcome in a group of term infants exposed to perinatal asphyxia (PA) compared to controls...
December 1, 2016: Neonatology
https://www.readbyqxmd.com/read/27899912/specific-mri-abnormalities-reveal-severe-perrault-syndrome-due-to-clpp-defects
#8
Tom E J Theunissen, Radek Szklarczyk, Mike Gerards, Debby M E I Hellebrekers, Elvira N M Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola G M van Berkel, Marjo S van der Knaap, Irenaeus F M de Coo, Hubert J M Smeets
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect but also to identify other patients with defects in the same gene. In an infant patient with sensorineural hearing loss, psychomotor retardation, and epilepsy, WES resulted in identification of a novel homozygous CLPP frameshift mutation (c...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#9
Skyler V McLaurin-Jiang, Julie K Wood, David F Crudo
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27885429/defect-width-the-prognostic-index-for-vaginal-repair-of-cesarean-section-diverticula
#10
Xingchen Zhou, Min Yao, Jieru Zhou, Weilin Tan, Husheng Wang, Xipeng Wang
PURPOSE: To evaluate the clinical parameter associated with cesarean section diverticula anatomic healing via vaginal repair management. METHODS: Observational cohort study. From Jul 2014 to Dec 2015, 143 women with CSD underwent vaginal repair surgery in Shanghai First Maternity and Infant Hospital, and 137(95.80%) were diagnosed using both transvaginal ultrasound and MRI. A total of 124 patients (86.71%) who were followed-up for more than 6 months after surgery were enrolled in this study...
November 25, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27872353/feed-and-wrap-mri-technique-in-infants
#11
Nina K Antonov, Carrie B Ruzal-Shapiro, Kimberly D Morel, William S Millar, Sudha Kashyap, Christine T Lauren, Maria C Garzon
The feed and wrap technique refers to the use of feeding and swaddling to induce natural sleep in infants. It can be used prior to an magnetic resonance imaging (MRI) scan, avoiding sedation or anesthesia. We performed a retrospective review of feed and wrap MRI scans in infants 3 months or younger over a 2-year period at our center (279 scans) to evaluate the efficacy of this technique. Of scan results reviewed, 79% addressed the clinical question, 20% partially addressed the clinical question, and 1% were technically inadequate...
November 20, 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27863706/advanced-neuroimaging-and-its-role-in-predicting-neurodevelopmental-outcomes-in-very-preterm-infants
#12
REVIEW
Nehal A Parikh
Up to 35% of very preterm infants survive with neurodevelopmental impairments (NDI) such as cognitive deficits, cerebral palsy, and attention deficit disorder. Advanced MRI quantitative tools such as brain morphometry, diffusion MRI, magnetic resonance spectroscopy, and functional MRI at term-equivalent age are ideally suited to improve current efforts to predict later development of disabilities. This would facilitate application of targeted early intervention therapies during the first few years of life when neuroplasticity is optimal...
November 15, 2016: Seminars in Perinatology
https://www.readbyqxmd.com/read/27857456/magnetic-resonance-imaging-spectrum-of-perinatal-hypoxic-ischemic-brain-injury
#13
Binoj Varghese, Rose Xavier, V C Manoj, M K Aneesh, P S Priya, Ashok Kumar, V K Sreenivasan
Perinatal hypoxic-ischemic brain injury results in neonatal hypoxic-ischemic encephalopathy and serious long-term neurodevelopmental sequelae. Magnetic resonance imaging (MRI) of the brain is an ideal and safe imaging modality for suspected hypoxic-ischemic injury. The pattern of injury depends on brain maturity at the time of insult, severity of hypotension, and duration of insult. Time of imaging after the insult influences the imaging findings. Mild to moderate hypoperfusion results in germinal matrix hemorrhages and periventricular leukomalacia in preterm neonates and parasagittal watershed territory infarcts in full-term neonates...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27843654/anterior-pituitary-aplasia-in-an-infant-with-ring-chromosome-18p-deletion
#14
Edward J Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, Claudia Boucher-Berry
We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27826677/torcular-pseudomass-a-potential-diagnostic-pitfall-in-infants-and-young-children
#15
Luísa Sampaio, Giovanni Morana, Mariasavina Severino, Domenico Tortora, Miguel Leão, Andrea Rossi
BACKGROUND: Incidental findings on brain MRI may constitute a diagnostic pitfall. We observed an incidental extra-axial midline rounded pseudomass between the torcular Herophili and the occipital squama, with spontaneous resolution, which we called "torcular pseudomass." OBJECTIVE: We investigated the frequency, imaging features, natural history and developmental background of this finding in a large group of infants and young children. MATERIALS AND METHODS: We conducted a single-center retrospective study by reviewing all brain MRIs performed in children younger than 3 years between 2007 and 2013 in a specialized pediatric hospital...
November 8, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27826325/enterovirus-71-infection-and-neurological-complications
#16
REVIEW
Kyung Yeon Lee
Since the outbreak of the enterovirus 71 (EV71) infection in Malaysia in 1997, large epidemics of EV71 have occurred in the Asia-Pacific region. Many children and infants have died from serious neurological complications during these epidemics, and EV71 infection has become a serious public health problem in these areas. EV71 infection causes hand, foot and mouth disease (HFMD) in children, and usually resolves spontaneously. However, EV71 occasionally involves the central nervous system (CNS), and induces diverse neurological complications such as brainstem encephalitis, aseptic meningitis, and acute flaccid paralysis...
October 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27818371/ictal-spect-is-useful-in-localizing-the-epileptogenic-zone-in-infants-with-cortical-dysplasia
#17
Martin Kudr, Pavel Krsek, Bruno Maton, Stephen Malone, Alena Jahodova, Vladimir Komarek, Prasanna Jayakar, Michael Duchowny
AIMS: To assess the localizing value of ictal SPECT in very young epilepsy surgery candidates when cerebral haemodynamic responses are known to be immature. METHODS: We retrospectively studied 13 infants with intractable focal epilepsy caused by focal cortical dysplasia (FCD). Completeness of resection of the (1) ictal SPECT hyperperfusion zone and (2) cerebral cortex with prominent ictal and interictal abnormalities on intracranial EEG (ECoG or long-term invasive monitoring) and the MRI lesion, when present, were correlated with postoperative seizure outcome...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27816347/cerebral-venous-thrombosis
#18
José Manuel Ferro, Patrícia Canhão, Diana Aguiar de Sousa
Cerebral venous thrombosis (CVT) has an incidence of 1.32/100,000/years in high-income countries, and higher in middle- and low-income countries. CVT is more frequent in infants and children young adults and females, especially during pregnancy/puerperium. CVT are now being diagnosed with increasing frequency because of the increased awareness and higher use of magnetic resonance imaging (MR) for investigating patients with acute and subacute headaches and new onset seizures. CVT rarely present as a stroke syndrome...
November 2, 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27803653/probing-intrinsic-resting-state-networks-in-the-infant-rat-brain
#19
Dusica Bajic, Michael M Craig, David Borsook, Lino Becerra
Resting-state functional magnetic resonance imaging (rs-fMRI) measures spontaneous fluctuations in blood oxygenation level-dependent (BOLD) signal in the absence of external stimuli. It has become a powerful tool for mapping large-scale brain networks in humans and animal models. Several rs-fMRI studies have been conducted in anesthetized and awake adult rats, reporting consistent patterns of brain activity at the systems level. However, the evolution to adult patterns of resting-state activity has not yet been evaluated and quantified in the developing rat brain...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27801896/alterations-in-amygdala-prefrontal-circuits-in-infants-exposed-to-prenatal-maternal-depression
#20
J Posner, J Cha, A K Roy, B S Peterson, R Bansal, H C Gustafsson, E Raffanello, J Gingrich, C Monk
Prenatal exposure to maternal depression is common and puts offspring at risk for developing a range of neuropsychiatric disorders. Despite its prevalence and adverse associations, neurobiological processes by which prenatal maternal depression (PMD) confers risk remain poorly understood. Maternal mood and fetal behavior were assessed between 34 and 37 gestational weeks. Using resting-state functional magnetic resonance imaging (fMRI) and diffusion MRI, we examined functional and structural connectivity within amygdala-prefrontal circuits in 64 infants (mean age=5...
November 1, 2016: Translational Psychiatry
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