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Fetal neurology

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https://www.readbyqxmd.com/read/29131652/novel-homozygous-lrp5-mutations-in-mexican-patients-with-osteoporosis-pseudoglioma-syndrome
#1
Mirena C Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez, Oscar Chacón-Camacho, Vanessa Villegas, Juan Carlos Zenteno
AIMS: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data of three Mexican OPPG patients, a pair of sibs, and a sporadic case. MATERIALS AND METHODS: Three patients underwent clinical examination, including a complete ophthalmic evaluation...
November 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29123862/management-of-maternal-anaphylaxis-in-pregnancy-a-case-report
#2
Yasunobu Tsuzuki, Mitsuo Narita, Masayuki Nawa, Urara Nakagawa, Toshiaki Wakai
Case: A 26-year-old woman (gravida 2, para 1) at 25 weeks' gestation was brought to the emergency department because of anaphylactic symptoms. She reported eating Japanese soba and developed symptoms of dyspnea, generalized itchy rash, abdominal pain, and severe uterine contractions within 15-30 min of eating. She was immediately treated by normal saline infusion, two injections of epinephrine (intramuscularly), and a nebulized short-acting β2-receptor agonist, followed by H1-antihistamine and methylprednisolone...
April 2017: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29122542/twin-twin-transfusion-syndrome-what-we-have-learned-from-clinical-trials
#3
REVIEW
Fatiha Djaafri, Julien Stirnemann, Imen Mediouni, Claire Colmant, Yves Ville
Monochorionic twin pregnancies are at increased risk for adverse outcome compared to dichorionic twin pregnancies and singletons. Monochorionic-specific complications include twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence, single intrauterine fetal demise and its consequences on the co-twin, and selective intrauterine growth restriction. Whereas the natural history of monochorionic-specific complications carries a high risk of fetal death or severe neurologic disability, a framework now exists, based on well-designed clinical trials, for optimal treatment of these entities...
November 6, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29108750/new-spectrum-of-the-neurologic-consequences-of-zika
#4
EDITORIAL
Marco T Medina, Marco Medina-Montoya
Zika virus infection represents a new neuropathological agent with association to a wide spectrum of neurological complications: a) Congenital Zika Syndrome by affecting the neural stem cells of the human fetal brain; b) Guillain-Barré Syndrome by an autoimmune response against peripheral myelin and/or axonal components or probable direct inflammatory reaction; c) Encephalitis/meningoencephalitis and myelitis by a direct viral inflammatory process on the central nervous system; d) Sensory neuropathy by infecting directly the peripheral neurons and causing substantial cell death and pathogenic transcriptional dysregulation; e) Acute Disseminated Encephalomyelitis and optic neuropathy; f) Seizures and Epilepsy and g) childhood arterial ischemic stroke by probable inflammatory reaction and endothelial injury...
November 1, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29099873/assessing-zika-virus-replication-and-the-development-of-zika-specific-antibodies-after-a-mid-gestation-viral-challenge-in-guinea-pigs
#5
Craig J Bierle, Claudia Fernández-Alarcón, Nelmary Hernandez-Alvarado, Jason C Zabeli, Bradley C Janus, Dira S Putri, Mark R Schleiss
Primary Zika virus (ZIKV) infections that occur during pregnancy can cause spontaneous abortion and profoundly disrupt fetal development. While the full range of developmental abnormalities associated with congenital Zika syndrome is not yet known, severe cases of the syndrome can present with microcephaly, extensive neurologic and ocular damage, and pronounced joint malformations. Animal models that accurately recapitulate congenital Zika syndrome are urgently needed for vaccine development and for the study of ZIKV pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/29082725/upcoming-strategies-in-obstetrics-how-the-technology-of-clinical-audit-may-reduce-cesarean-birth
#6
Sara Paracchini, Bianca Masturzo, Domenico Tangolo, Enrica Roletti, Annalisa Piazzese, Rossella Attini, Alessandro Rolfo, Tullia Todros
BACKGROUND: The rate of cesarean delivery is currently increasing all over Europe. In Italy it reaches 38% of all child births. Therefore, it is important to identify the clinical and organizational variables that determine the appropriateness of elective cesarean delivery. With this aim we chose the technology of clinical audit, a process that promotes improvement in clinical practice through systematic review of clinical care in relation with explicit standards derived from scientific literature...
December 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/29075360/turnover-of-histones-and-histone-variants-in-postnatal-rat-brain-effects-of-alcohol-exposure
#7
Nadia Rachdaoui, Ling Li, Belinda Willard, Takhar Kasumov, Stephen Previs, Dipak Sarkar
BACKGROUND: Alcohol consumption during pregnancy is a significant public health problem and can result in a continuum of adverse outcomes to the fetus known as fetal alcohol spectrum disorders (FASD). Subjects with FASD show significant neurological deficits, ranging from microencephaly, neurobehavioral, and mental health problems to poor social adjustment and stress tolerance. Neurons are particularly sensitive to alcohol exposure. The neurotoxic action of alcohol, i.e., through ROS production, induces DNA damage and neuronal cell death by apoptosis...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29059835/central-sulcus-development-in-early-childhood
#8
Niharika Gajawelli, Sean Deoni, Holly Dirks, Douglas Dean, Jonathan O'Muircheartaigh, Yalin Wang, Marvin D Nelson, Olivier Coulon, Natasha Lepore
Mapping out the development of the brain in early childhood is a critical part of understanding neurological disorders. The brain grows rapidly in early life, reaching 95% of the final volume by age 6. A normative atlas containing structural parameters that indicate development would be a powerful tool in understanding the progression of neurological diseases. Although some studies have begun exploring cortical development in pediatric imaging, sulci have not been examined extensively. Here, we study the changes in the Central Sulcus (CS), which is one of the earliest sulci to develop from the fetal stage, at early developmental age 1-3 years old using high resolution magnetic resonance images...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#9
F J Murcia Pascual, L Delgado Cotán, V Jiménez Crespo, F Vázquez Rueda, E Rodríguez Cano, M Miño Mora, R M Paredes Esteban
OBJECTIVES: To assess the accuracy of prenatal ultrasound diagnosis and to analyze the protocol applied for congenital defects (CD) in our environment. METHODS: Descriptive study of prenatally diagnosed CD in our area between 2004-2013. Includes: total births, fetal medicine referrals (number of consultations, ultrasound, invasive techniques) anatomical and chromosomal abnormalities, confirmed diagnoses, necropsies performed, false diagnoses, absence of prenatal diagnoses, and number and reasons for abortions (VIEs)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29031539/fetal-surgery-for-myelomeningocele-after-the-management-of-myelomeningocele-study-moms
#10
REVIEW
Julie S Moldenhauer, N Scott Adzick
Myelomeningocele (MMC) is the most frequently occurring congenital abnormality of the central nervous system and leads to significant physical disabilities. Historically treatment involved postnatal closure with management of the associated sequelae including ventricular shunting. The mechanism of neurologic damage that begins with abnormal neurulation followed by continued injury over the course of gestation made MMC a plausible candidate for in-utero surgical repair. Animal and early human studies demonstrated the feasibility of fetal closure...
October 11, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29019762/central-nervous-system-effects-of-intrauterine-zika-virus-infection-a-pictorial-review
#11
Bianca Guedes Ribeiro, Heron Werner, Flávia P P L Lopes, L Celso Hygino da Cruz, Tatiana M Fazecas, Pedro A N Daltro, Renata A Nogueira
Relatively few agents have been associated with congenital infections involving the brain. One such agent is the Zika virus, which has caused several outbreaks worldwide and has spread in the Americas since 2015. The Zika virus is an arbovirus transmitted by infected female mosquito vectors, such as the Aedes aegypti mosquito. This virus has been commonly associated with congenital infections of the central nervous system and has greatly increased the rates of microcephaly. Ultrasonography (US) remains the method of choice for fetal evaluation of congenital Zika virus infection...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29017418/maternal-glucose-supplementation-in-a-murine-model-of-chorioamnionitis-alleviates-dysregulation-of-autophagy-in-fetal-brain
#12
Jun Lei, Wenyu Zhong, Ahmad Almalki, Hongxi Zhao, Hattan Arif, Rayyan Rozzah, Ghada Al Yousif, Nader Alhejaily, Dan Wu, Michael McLane, Irina Burd
Fetal brain injury induced by intrauterine inflammation is a major risk factor for adverse neurological outcomes, including cerebral palsy, cognitive dysfunction, and behavioral disabilities. There are no adequate therapies for neuronal protection to reduce fetal brain injury, especially new strategies that may apply promptly and conveniently. In this study, we explored the effect of maternal glucose administration in a mouse model of intrauterine inflammation at term. Our results demonstrated that maternal glucose supplementation significantly increased survival birth rate and improved the neurobehavioral performance of pups exposed to intrauterine inflammation...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/29016670/a-novel-function-of-n-linked-glycoproteins-alpha-2-hs-glycoprotein-and-hemopexin-implications-for-small-molecule-compound-mediated-neuroprotection
#13
Takuya Kanno, Kaori Yasutake, Kazunori Tanaka, Shinji Hadano, Joh-E Ikeda
Therapeutic agents to the central nervous system (CNS) need to be efficiently delivered to the target site of action at appropriate therapeutic levels. However, a limited number of effective drugs for the treatment of neurological diseases has been developed thus far. Further, the pharmacological mechanisms by which such therapeutic agents can protect neurons from cell death have not been fully understood. We have previously reported the novel small-molecule compound, 2-[mesityl(methyl)amino]-N-[4-(pyridin-2-yl)-1H-imidazol-2-yl] acetamide trihydrochloride (WN1316), as a unique neuroprotectant against oxidative injury and a highly promising remedy for the treatment of amyotrophic lateral sclerosis (ALS)...
2017: PloS One
https://www.readbyqxmd.com/read/28978246/prevention-and-treatment-of-fetal-cytomegalovirus-infection-with-cytomegalovirus-hyperimmune-globulin-a-multicenter-study-in-madrid
#14
Daniel Blázquez-Gamero, Alberto Galindo Izquierdo, Teresa Del Rosal, Fernando Baquero-Artigao, Nuria Izquierdo Méndez, María Soriano-Ramos, Pablo Rojo Conejo, María Isabel González-Tomé, Antonio García-Burguillo, Noelia Pérez Pérez, Virginia Sánchez, Jose Tomás Ramos-Amador, Maria De la Calle
INTRODUCTION: Cytomegalovirus (CMV) is the leading cause of congenital infection worldwide. Data about the management of CMV infection in pregnant women are scarce, and treatment options are very limited. The aim of the study is to investigate the effectiveness of cytomegalovirus hyperimmune globulin (CMV-HIG) for the prevention and treatment of congenital CMV (cCMV) infection. MATERIALS AND METHODS: A retrospective observational study was conducted in three tertiary hospitals in Madrid...
October 26, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28977753/the-manitoba-youth-justice-program-empowering-and-supporting-fasd-affected-youth-in-conflict-with-the-law
#15
Sally Elizabeth Longstaffe, Albert Chudley, Mary Kate Harvie, Teresa Brown, Dan Neault, Trevor John Markesteyn
Fetal Alcohol Spectrum Disorder (FASD) describes a constellation of physical, cognitive, neurologic and behavioral impairments resulting from prenatal exposure to alcohol. FASD is recognized as being one of the largest causes of preventable brain injury in children. There had long been concerns that some youth in conflict with the law may be affected with FASD given repetitive patterns of offending and apparent lack of understanding of consequences of their actions. In 2004 funding was received from Justice Canada for a pilot project with a cross departmental steering committee working together to determine a best way of working across systems to provide FASD assessments to these youth...
October 4, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28976987/assessing-the-neuroprotective-benefits-for-babies-of-antenatal-magnesium-sulphate-an-individual-participant-data-meta-analysis
#16
Caroline A Crowther, Philippa F Middleton, Merryn Voysey, Lisa Askie, Lelia Duley, Peter G Pryde, Stéphane Marret, Lex W Doyle
BACKGROUND: Babies born preterm are at an increased risk of dying in the first weeks of life, and those who survive have a higher rate of cerebral palsy (CP) compared with babies born at term. The aim of this individual participant data (IPD) meta-analysis (MA) was to assess the effects of antenatal magnesium sulphate, compared with no magnesium treatment, given to women at risk of preterm birth on important maternal and fetal outcomes, including survival free of CP, and whether effects differed by participant or treatment characteristics such as the reason the woman was at risk of preterm birth, why treatment was given, the gestational age at which magnesium sulphate treatment was received, or the dose and timing of the administration of magnesium sulphate...
October 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28973696/neurodevelopment-and-thyroid-hormone-synthesis-inhibition-in-the-rat-quantitative-understanding-within-the-adverse-outcome-pathway-framework
#17
Iman Hassan, Hisham El-Masri, Patricia A Kosian, Jermaine Ford, Sigmund J Degitz, Mary E Gilbert
Adequate levels of thyroid hormone (TH) are needed for proper brain development, deficiencies may lead to adverse neurologic outcomes in humans and animal models. Environmental chemicals have been linked to TH disruption, yet the relationship between developmental exposures and decline in serum TH resulting in neurodevelopmental impairment is poorly understood. The present study developed a quantitative adverse outcome pathway where serum thyroxin (T4) reduction following inhibition of thyroperoxidase in the thyroid gland are described and related to deficits in fetal brain TH and the development of a brain malformation, cortical heterotopia...
November 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28966590/tubb2b-mutation-in-an-adult-patient-with-myoclonus-dystonia
#18
Joshua T Geiger, Alice B Schindler, Cornelis Blauwendraat, Harvey S Singer, Sonja W Scholz
BACKGROUND: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. METHODS: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28965107/imaging-features-and-prognostic-factors-in-fetal-and-postnatal-torcular-dural-sinus-malformations-part-i-review-of-experience-at-boston-children-s-hospital
#19
Edward Yang, Armide Storey, Heather E Olson, Janet Soul, Judy A Estroff, Cameron C Trenor, Benjamin K Cooper, Edward R Smith, Darren B Orbach
BACKGROUND: Even for the most common dural sinus malformation (DSM), the torcular DSM (tDSM), generalizable statements about etiology and prognosis are difficult because neurosurgeons/neuroradiologists and obstetrical imagers have focused on different patient age groups, have reported different outcomes, and have offered differing pathophysiologic explanations. OBJECTIVE: To examine the imaging features and outcomes of a local cohort of tDSMs across fetal-neonatal life for commonalities...
September 30, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28961141/neurological-complications-after-therapy-for-fetal-fetal-transfusion-syndrome-a-systematic-review-of-the-outcomes-at-24-months
#20
Ana Miralles-Gutiérrez, Isidoro Narbona-Arias, Ernesto González-Mesa
OBJECTIVE: The main objective of this study was to review the available scientific evidence about mid-term neurological outcomes in twins after laser therapy for twin-to-twin transfusion syndrome (TTTS). METHODS: A systematic review of studies on neurodevelopmental outcomes (cognition, motor development, communication skills and cerebral palsy) of twins after laser therapy for TTTS was conducted. Outcomes at 24 months of age and the use of validated scales for assessment were the selected criteria...
September 29, 2017: Journal of Perinatal Medicine
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