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Neonatal pathology

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https://www.readbyqxmd.com/read/28334871/proteomics-insights-into-infantile-neuronal-ceroid-lipofuscinosis-cln1-point-to-the-involvement-of-cilia-pathology-in-the-disease
#1
Michal Segal-Salto, Karin Hansson, Tamar Sapir, Anna Kaplan, Talia Levy, Michaela Schwizer, Michael Frotscher, Peter James, Orly Reiner
Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis. Here, we provide proteomic evidence suggesting that PPT1 deficiency could be considered as a ciliopathy. Analysis of membrane proteins from brain enriched for acylated proteins from neonate Ppt1 knock out and control mice revealed a list of 88 proteins with differential expression levels. Amongst them, we identified Rab3IP, which regulates ciliogenesis in concert with Rab8 and Rab11...
March 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28330415/novel-detection-of-placental-insufficiency-by-magnetic-resonance-imaging-in-the-nonhuman-primate
#2
Jamie O Lo, Victoria H J Roberts, Matthias C Schabel, Xiaojie Wang, Terry K Morgan, Zheng Liu, Colin Studholme, Christopher D Kroenke, Antonio E Frias
The placenta is a vital organ necessary for healthy fetal development. Placental insufficiency creates an in utero environment where the fetus is at risk of insufficient oxygen or nutrient exchange. This is primarily caused by impairment of either maternal or fetal circulation or vascular thrombosis such as placental infarction. As a result of placental dysfunction, affected fetuses may be growth restricted, neurologically impaired, and at risk of increased morbidity and mortality. In a cohort of 4 pregnant Rhesus macaques, we describe antenatal detection of naturally occurring intrauterine growth restriction (IUGR) and aberrant fetal neurodevelopment in 1 animal...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28320268/neonatal-proinflammatory-stress-induces-accumulation-of-corticosterone-and-interleukin-6-in-the-hippocampus-of-juvenile-rats-potential-mechanism-of-synaptic-plasticity-impairments
#3
M V Onufriev, S V Freiman, D I Peregud, I V Kudryashova, A O Tishkina, M Yu Stepanichev, N V Gulyaeva
Infectious diseases in early postnatal ontogenesis can induce neuroinflammation, disrupt normal central nervous system development, and contribute to pathogenesis of cerebral pathologies in adults. To study long-term consequences of such early stress, we induced neonatal proinflammatory stress (NPS) by injecting bacterial lipopolysaccharide into rat pups on postnatal days 3 and 5 and then assessed the levels of corticosterone, proinflammatory cytokines and their mRNAs, and neurotrophins and their mRNAs in the hippocampus and neocortex of the one-month-old animals...
March 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28317045/fibrolamellar-variant-of-hepatocellular-carcinoma-presenting-during-pregnancy-management-dilemmas
#4
Nagalapuram Vishnu, Aditya V Kulkarni, Sreenivasan Vidhyalakshmi, Swaminathan Sambandam, Prerna Garg, Venkatakrishnan LeelaKrishnan, Krishnaveni Janarthan, Gursharan Singh, Maninder Kaur, T V Chitra, Biku Joseph John
The Fibrolamellar variant of Hepatocellular Carcinoma (FLHCC) is a rare form of liver cancer that presents in the 3(rd) decade of life, is rarely associated with cirrhosis or chronic Hepatitis B/C virus infection, and usually presents with normal serum alpha-fetoprotein (AFP) levels. FLHCC presenting during pregnancy is extremely rare, with only 4 cases reported. We present a case of FLHCC in pregnancy and discuss the dilemmas in management. A 26 year-old primigravida, 26 weeks of gestation presented with a month's history of obstructive jaundice secondary...
February 2017: Ann Hepatobiliary Pancreat Surg
https://www.readbyqxmd.com/read/28301882/infantile-hemangioma-of-the-posterior-fossa-in-a-newborn-early-management-and-long-term-follow-up
#5
Elsa Haine, Annick Sevely, Sergio Boetto, Marie-Bernadette Delisle, Claude Cances
A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance...
March 16, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28299660/etv6-runx1-acute-lymphoblastic-leukaemia-in-identical-twins
#6
Anthony M Ford, Mel Greaves
Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes and each carries its own prognostic relevance. The most common chromosome translocation observed is the t(12;21) that results in an in-frame fusion between the first five exons of ETV6 (TEL) and almost the entire coding region of RUNX1 (AML1)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28298172/potential-prognostic-biomarkers-of-cardiovascular-disease-in-fetal-macrosomia-the-impact-of-gestational-diabetes
#7
Despina D Briana, Κleopatra Germanou, Μaria Boutsikou, Theodora Boutsikou, Νikolaos Athanasopoulos, Αntonios Μarmarinos, Dimitrios Gourgiotis, Αriadne Malamitsi-Puchner
OBJECTIVE: Fetal macrosomia is associated with cardiac hypertrophy and increased cardiovascular risk. Cardiac biomarkers may play diagnostic/prognostic role in cardiovascular disease. We tested whether cardiac biomarkers are differentially expressed in cord blood samples of full-term singleton large-for-gestational-age (LGA), as compared to appropriate-for-gestational-age (AGA) pregnancies. METHODS: Cardiotrophin-1 (CT-1), Titin, pentraxin (PTX-3) and soluble CD36 (sCD36) concentrations were determined in 80 cord blood samples from a) LGA pregnancies due to maternal diabetes (n = 8), overweight/obese (n = 11), excessive weight gain (n = 7), without specific pathology (n = 14), b) AGA normal pregnancies (controls, n = 40)...
March 15, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28291024/pavlik-harness-treatment-for-pathological-developmental-dysplasia-of-the-hip-meeting-the-standard
#8
Qaisar Choudry, Robin W Paton
In the UK, the Pavlik harness is generally the accepted treatment technique for the treatment of neonatal and infant pathological developmental dysplasia of the hip. In 2013, the success rate of the Pavlik harness became an outcome measure from the British Society of Children's Orthopaedic Surgery for appraisal and revalidation with the GMC for paediatric orthopaedic surgery. The standard set requires an 80% success rate, with less than 20% requiring surgery. This study evaluated the outcomes of Pavlik harness treatment in neonates/infants with 'pathological hips' diagnosed by ultrasound imaging in a district general hospital setting...
March 13, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28288145/rectal-temperature-in-the-first-five-hours-after-hypoxia-ischaemia-critically-affects-neuropathological-outcomes-in-neonatal-rats
#9
Thomas Wood, Catherine Hobbs, Mari Falck, Anne Charlotte Brun, Else Marit Løberg, Marianne Thoresen
BACKGROUND: Hyperthermia after hypoxia-ischaemia (HI) in newborn infants is associated with worse neurological outcomes. Loss of thermoregulation may also be associated with greater injury. METHODS: In the postnatal-day 7 (P7) rat, the effect of 5h of graded hyperthermia (38°C or 39°C) immediately after unilateral HI was compared to normothermia (NT, 37°C), and therapeutic hypothermia (TH, 32°C). Early (negative geotaxis) and late (staircase test) behavioural testing was performed, as well as neuropathology scoring in adulthood...
March 13, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28286848/brain-ultrasonography-findings-in-neonatal-seizure-a-cross-sectional-study
#10
Seyed Saeed Nabavi, Parinaz Partovi
INTRODUCTION: Screening of newborns with seizure, who have curable pathologic brain findings, might be able to improve their final outcome by accelerating treatment intervention. The present study aimed to evaluate the brain ultrasonography findings of newborns hospitalized with complaint of seizure. METHODS: The present cross-sectional study designed to evaluate brain ultrasonography findings of hospitalized newborns complaining seizure. Neonatal seizure was defined as presence of tonic, clonic, myoclonic, and subtle attacks in 1 - 28 day old newborns...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/28285990/classification-of-causes-and-associated-conditions-for-stillbirths-and-neonatal-deaths
#11
REVIEW
Vicki Flenady, Aleena M Wojcieszek, David Ellwood, Susannah Hopkins Leisher, Jan Jaap H M Erwich, Elizabeth S Draper, Elizabeth M McClure, Hanna E Reinebrant, Jeremy Oats, Lesley McCowan, Alison L Kent, Glenn Gardener, Adrienne Gordon, David Tudehope, Dimitrios Siassakos, Claire Storey, Jane Zuccollo, Jane E Dahlstrom, Katherine J Gold, Sanne Gordijn, Karin Pettersson, Vicki Masson, Robert Pattinson, Jason Gardosi, T Yee Khong, J Frederik Frøen, Robert M Silver
Accurate and consistent classification of causes and associated conditions for perinatal deaths is essential to inform strategies to reduce the five million which occur globally each year. With the majority of deaths occurring in low- and middle-income countries (LMICs), their needs must be prioritised. The aim of this paper is to review the classification of perinatal death, the contemporary classification systems including the World Health Organization's International Classification of Diseases - Perinatal Mortality (ICD-PM), and next steps...
March 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28285896/perinatal-changes-in-fetal-ventricular-geometry-myocardial-performance-and-cardiac-function-in-normal-term-pregnancies
#12
Olga Patey, Michael A Gatzoulis, Basky Thilaganathan, Julene S Carvalho
BACKGROUND: The fetal heart at term is exposed to an increase in hemodynamic work as a consequence of fetal growth, increased circulating volume, and alteration in loading patterns due to maturational changes in fetoplacental circulation. The extent to which these cardiovascular changes influence human fetal and neonatal cardiac adaptation has not been fully elucidated. The aim of this study was to evaluate perinatal cardiovascular changes in ventricular geometry and myocardial performance in normal term fetuses...
March 9, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28285637/erratum-to-testicular-germ-cell-tumors-tgcts-in-neonates-and-infants-seminars-in-diagnostic-pathology-33-2016-410-418
#13
Juan Carlos Manivel
No abstract text is available yet for this article.
January 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28283555/developmental-genetic-dietary-and-xenobiotic-influences-on-neonatal-hyperbilirubinemia
#14
Mei-Fei Yueh, Shujuan Chen, Nghia Nguyen, Robert H Tukey
Hyperbilirubinemia, caused by the accumulation of unconjugated bilirubin, is one of the most common clinical diagnoses in both premature and term newborns. Owing to the fact that bilirubin is metabolized solely through glucuronidation by UDP-glucuronosyltransferase (UGT) 1A1, it is now known that immaturity of UGT1A1 in combination with overproduction of bilirubin during the developmental stage acts as a bottleneck to bilirubin elimination and predisposes the infant to high TBS levels. While neonatal jaundice is mostly benign, excessively high levels of serum bilirubin in a small percentage of newborns can cause bilirubin-induced neurologic dysfunction (BIND), potentially leading to permanent brain damage, a condition known as kernicterus...
March 10, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28282241/pregnancy-outcomes-and-insulin-requirements-in-women-with-type-1-diabetes-treated-with-continuous-subcutaneous-insulin-infusion-and-multiple-daily-injections-cohort-study
#15
Sally K Abell, Matthew Suen, Anthony Pease, Jacqueline A Boyle, Georgia Soldatos, John Regan, Euan M Wallace, Helena J Teede
BACKGROUND: We aimed to compare glycemic control, insulin requirements, and outcomes in women with type 1 diabetes in pregnancy treated with continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI). METHODS: A retrospective cohort study was conducted of singleton pregnancies (>20 weeks gestation) in women with type 1 diabetes (2010-2015) at a specialist multidisciplinary maternity network in Australia. Antenatal characteristics, diabetes history and treatment details, and maternal and neonatal outcomes were compared for women with type 1 diabetes using CSII and MDI...
March 10, 2017: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/28277911/fetal-growth-pathology-score-a-novel-ultrasound-parameter-for-individualized-assessment-of-third-trimester-growth-abnormalities
#16
Russell L Deter, Wesley Lee, John C P Kingdom, Roberto Romero
OBJECTIVES: To study fetal growth in pregnancies at risk for growth restriction using, for the first time, the Fetal Growth Pathology Score [FGPS1]. METHODS: A retrospective cohort study of growth restriction [GR] was carried out in 184 selected SGA singletons using a novel, composite measure of growth abnormalities termed the FGPS1. Serial fetal biometry was used to establish 2(nd) trimester Rossavik size models and determine FGPS1 values prior to delivery. FGPS1 data were compared to neonatal growth outcomes assessed using Growth Potential Realization Index [GPRI] values [average negative pathological GPRI {av -pGPRI}]...
March 1, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28270884/critical-imperative-for-the-reform-of-british-interpretation-of-fetal-heart-rate-decelerations-analysis-of-figo-and-nice-guidelines-post-truth-foundations-cognitive-fallacies-myths-and-occam-s-razor
#17
REVIEW
Shashikant L Sholapurkar
Cardiotocography (CTG) has disappointingly failed to show good predictability for fetal acidemia or neonatal outcomes in several large studies. A complete rethink of CTG interpretation will not be out of place. Fetal heart rate (FHR) decelerations are the most common deviations, benign as well as manifestation of impending fetal hypoxemia/acidemia, much more commonly than FHR baseline or variability. Their specific nomenclature is important (center-stage) because it provides the basic concepts and framework on which the complex "pattern recognition" of CTG interpretation by clinicians depends...
April 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28263753/the-maternal-plasma-proteome-changes-as-a-function-of-gestational-age-in-normal-pregnancy-a-longitudinal-study
#18
Roberto Romero, Offer Erez, Eli Maymon, Piya Chaemsaithong, Zhonghui Xu, Percy Pacora, Tinnakorn Chaiworapongsa, Bogdan Done, Sonia S Hassan, Adi L Tarca
OBJECTIVE: Pregnancy is accompanied by dramatic physiologic changes in maternal plasma proteins. Characterization of the maternal plasma proteome in normal pregnancy is an essential step for understanding changes to predict pregnancy outcome. The objective of this study was to describe maternal plasma proteins that change in abundance with advancing gestational age, and determine biological processes that are perturbed in normal pregnancy. MATERIALS AND METHODS: A longitudinal study included 43 normal pregnancies that had a term delivery of an infant who was appropriate for gestational age (AGA) without maternal or neonatal complications...
March 2, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28263044/mri-for-premature-neonatal-brain-injury-a-case-report
#19
Alexander Langham
This case report aims to extend analytical thinking and clinical reasoning of clinicians and radiographers when presented with diagnosing premature neonatal brain injuries (PNBI). The report considers the uses and merit of magnetic resonance imaging (MRI) in the primary assessment of PNBI. The traditional technique of cranial ultrasound as the first modality of choice can have several limitations, which includes a lower temporal resolution in its ability to differentiate grey-white matter distribution patterns, lower spatial resolution in its ability to accurately map white matter fibre tracts and distribution patterns which are critical in white matter injury pathological events...
March 6, 2017: Journal of Medical Radiation Sciences
https://www.readbyqxmd.com/read/28260521/gynecomastia-in-infants-children-and-adolescents
#20
Alexander K C Leung, Alexander A C Leung
BACKGROUND: Gynecomastia may occur physiologically in the neonatal period, during puberty, and in old age. It may also develop in association with various pathologic states. The challenge for the physician is to distinguish physiological gynecomastia from those with an underlying pathology. OBJECTIVE: To review in depth the pathophysiology, clinical manifestations, and treatment of gynecomastia. METHODS: A PubMed search was completed in Clinical Queries using the key term "gynecomastia"...
March 1, 2017: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
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