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https://www.readbyqxmd.com/read/28717864/diagnosing-developmental-dysplasia-of-the-hip-using-the-graf-ultrasound-method-risk-and-protective-factor-analysis-in-11-820-universally-screened-newborns
#1
Mohammad Schams, Rob Labruyère, Anne Zuse, Mikolaj Walensi
The essential role of ultrasound examinations in diagnosis and treatment of developmental dysplasia of the hip (DDH) is widely accepted while the weighting and correlation of protective factors and perinatal risk for DDH still give rise to debate. Our aim was to investigate the impact of single and twofold combined risk and protective factors on the newborns' hip maturity, assessed with the Graf ultrasound method. Therefore, data sets of 11,820 universally screened newborns were analyzed. Univariate and logistic regression analyses were performed to correlate risk and protective factors with mature or immature but appropriate for age and pathologic hip types...
July 17, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28697499/perinatal-outcomes-of-non-primary-maternal-cytomegalovirus-infection-a-15-year-experience
#2
Giuliana Simonazzi, Alessandra Curti, Francesca Cervi, Liliana Gabrielli, Margherita Contoli, Maria Grazia Capretti, Nicola Rizzo, Brunella Guerra, Antonio Farina, Tiziana Lazzarotto
OBJECTIVE: To evaluate perinatal outcomes in case of non-primary maternal cytomegalovirus (CMV) infection. METHODS: We performed a retrospective cohort study of pregnant women with active CMV infection referred to our unit over a 15-year period (January 2000 to December 2014). Non-primary infection was diagnosed on the basis of the results of confirmatory serological and virological tests (avidity test, immunoblotting, real-time PCR-DNA). The vertical transmission rate and the percentage of symptomatic congenital infection were determined in this group of patients...
July 12, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28685004/a-newborn-with-an-alternative-porto-caval-shunt
#3
Çağrı Damar, Ayşe Gül Alımlı, Betül Emine Derinkuyu, Kudret Ebru Özcan, Asburçe Olgaç, Ali Murat Koç
BACKGROUND: Absent ductus venosus (ADV) is a rare condition, but it should be known that this embryonic anomaly may be detected by fetal echocardiographic or newborn ultrasound examinations. CASE REPORT: We present a baby with an ADV and an accompanying alternative porto-caval shunt between the right portal vein and inferior vena cava detected on postnatal ultrasound examination. CONCLUSIONS: Variations in the fetal umbilical or porto-systemic circulations should be detected by fetal or newborn ultrasound examinations and kept in mind before common interventions such as UV catheterizations...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28683242/targeted-levothyroxine-therapy-for-treatment-of-congenital-hypothyroidism
#4
Melissa J Schoelwer, Wanzhu Tu, Junyi Zhou, Erica A Eugster
OBJECTIVE: The purpose of this study was to determine if infants with congenital hypothyroidism (CH) whose initial dose of levothyroxine (LT4) is based on thyroid gland anatomy require fewer dose adjustments in the first six months of life than those who were started empirically on LT4. METHODS: Newborns with CH who had a thyroid ultrasound performed at diagnosis were eligible for this prospective, historical case-controlled study. The daily LT4 dose prescribed was based on results on the thyroid ultrasound as follows: 15 mcg/kg for athyreosis, 12 mcg/kg for a dysgenetic thyroid, and 10 mcg/kg for an anatomically normal gland...
July 6, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28675682/imaging-and-management-of-fetuses-and-neonates-with-alloimmune-thrombocytopenia
#5
REVIEW
Arzu Kovanlikaya, Priyanka Tiwari, James B Bussel
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is the most common cause of severe neonatal thrombocytopenia and intracranial bleeding in term newborns. Intracranial hemorrhage (ICH) commonly results in death or severe, lasting neurologic disability. The timing of ICH is also important for management of the next affected pregnancy in cases of FNAIT. This manuscript reviews the advantages and disadvantages of the different radiologic methodologies to identify and characterize ICH. It discusses the limits of ultrasound and the advantages of magnetic resonance imaging allowing avoidance of the radiation associated with computed tomography (CT) scans...
July 4, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28674638/orbital-subperiosteal-hematoma-in-the-newborn-causing-unilateral-proptosis-ultrasound-as-first-line-imaging-modality
#6
Florencia Angkasa, Leila Mohammadi, Deepa Taranath, Ajay Taranath, Marcus Brecht
Proptosis in the neonatal period is relatively infrequent and has diverse underlying etiologies. One of the more common causes appears to be orbital subperiosteal hematoma. Early detection, differentiation from other causes, and regular follow-up are essential as loss of vision can occur. We describe two cases of neonatal proptosis caused by orbital subperiosteal hematoma highlighting different diagnostic and management approaches, and provide a summary of previously reported cases. Spontaneous resolution occurs in most cases; however, emergent surgical evacuation is warranted in cases of optic nerve compression...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28659360/lung-ultrasound-immediately-after-birth-to-describe-normal-neonatal-transition-an-observational-study
#7
Douglas A Blank, C Omar Farouk Kamlin, Sheryle R Rogerson, Lisa M Fox, Laila Lorenz, Stefan Charles Kane, Graeme R Polglase, Stuart B Hooper, Peter G Davis
OBJECTIVE: Lung ultrasound (LUS) has shown promise as a diagnostic tool for the evaluation of the newborn with respiratory distress. No study has described LUS during 'normal' transition. Our goal was to characterise the appearance of serial LUS in healthy newborns from the first minutes after birth until airway liquid clearance is achieved. STUDY DESIGN: Prospective observational study. SETTING: Single-centre tertiary perinatal centre in Australia...
June 28, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28646619/early-insights-into-zika-s-microcephaly-physiopathology-from-the-epicentre-of-the-outbreak-teratogenic-apoptosis-on-the-central-nervous-system
#8
Patricia Jungmann, Pedro Pires, Edward Araujo
Foetal infection by the Zika virus has been implicated in the exceptional rise in the number of mycrocephalic newborns recorded by the end of 2015 in Brazil. The mechanism by which this teratogenic effect is produced in the developing brain has not been entirely established. Very early in the outbreak, we addressed this question by evaluating available initial data from a gestational and post-natal clinical investigation in the Brazilian state of Pernambuco. The present study was undertaken to test the hypothesis that the subtractive dysmorphic brain malformations observed in Zika's microcephaly are primarily due to the massive induction of apoptosis of neuroprogenitor cells...
June 24, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28646536/spectrum-of-mutations-in-cystinuria-patients-presenting-with-prenatal-hyperechoic-colon
#9
Isabelle Tostivint, Nicolas Royer, Mireille Nicolas, Agnes Bourillon, Isabelle Czerkiewicz, Pierre-Hadrien Becker, Françoise Muller, Jean-François Benoist
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in two genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a hyperechoic colon (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28646130/congenital-chloride-diarrhea-ccd-a-case-report-of-ccd-suspected-by-prenatal-ultrasonography-and-magnetic-resonance-imaging-mri
#10
Takakazu Kawamura, Tomizou Nishiguchi
BACKGROUND Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn. CASE REPORT We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum...
June 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28644236/cyp1b1-cytopathy-uncommon-phenotype-of-a-homozygous-cyp1b1-deletion-as-internal-corneal-ulcer-of-von-hippel
#11
Valeria Oliva-Biénzobas, Alejandro Navas, Mirena C Astiazarán, Oscar Francisco Chacón-Camacho, Jose A Bermúdez-Magner, Mariana Takane, Enrique Graue-Hernández, Juan Carlos Zenteno
PURPOSE: To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. METHODS: The newborn presented with diffuse corneal edema and bilaterally elevated intraocular pressure (IOP). Ophthalmological examination, ultrasound, and ultrasound biomicroscopy were performed; congenital infections were ruled out. Genetic analysis was performed. The patient underwent penetrating keratoplasty and goniotomy in a single surgical time...
June 21, 2017: Cornea
https://www.readbyqxmd.com/read/28638108/pregnancy-outcomes-in-nulliparous-women-after-ultrasound-ablation-of-uterine-fibroids-a-single-central-retrospective-study
#12
Jun Shu Li, Yong Wang, Jin Yun Chen, Wen Zhi Chen
To explore the impact of high-intensity focused ultrasound (HIFU) ablation of uterine fibroids in nulliparous women on subsequent pregnancy and delivery. A retrospective analysis was conducted of nulliparous women who received HIFU treatment at Chongqing Medical University, Chongqing,China, from January 1, 2010, to January 1, 2015. A total of 189 cases were enrolled, the median follow-up time was three years. Among them,there were 131 cases pregnancy with a total of 133 times,the pregnancy rate was 69.3% (131/189),and the spontaneous conception rate was 95...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28637056/-urosepsis-in-children
#13
Josef Oswald
Urinary tract infections (UTI) are the most common infectious diseases in children. Urosepsis in childhood, though rare, is the most complicated possible variant. In newborns and infants, unspecific symptoms are a significant barrier to a fast and reliable diagnosis, which is crucial to successful treatment. In addition to urine and laboratory tests as well as non-invasive examinations (ultrasound), there may be an indication for invasive examinations of the kidneys (DMSA scans) in cases of a severe infection...
June 21, 2017: Aktuelle Urologie
https://www.readbyqxmd.com/read/28631075/measurement-and-evaluation-of-fetal-fat-layer-in-the-prediction-of-fetal-macrosomia-in-pregnancies-complicated-by-gestational-diabetes
#14
Mohamed Elessawy, Christina Harders, Helmut Kleinwechter, Norbert Demandt, Ghada Abu Sheasha, Nicolai Maass, Ulrich Pecks, Christel Eckmann-Scholz
OBJECTIVES: To explore the predictive power of measuring the abdominal fetal fat layer (FFL) as a soft tissue marker at 31, 34, and 37 weeks' gestation to improve the detection of fetal macrosomia in pregnant women with GDM, in addition to the biometric values with close monitoring of maternal blood sugar level and BMI changes. METHODS: We conducted a prospective observational study at the Department of Obstetrics, University Hospitals, Campus Kiel, Germany, in collaboration with diabetic clinic staff...
June 19, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28618098/pre-labor-fetal-cardiac-function-and-its-relationship-with-intrapartum-fetal-compromise-and-neonatal-status-at-term
#15
Amal A Alsolai, Larissa N Bligh, Ristan M Greer, Sailesh Kumar
OBJECTIVES: To prospectively investigate the relationship between fetal cardiac function and Doppler parameters with intrapartum fetal compromise (IFC) in term appropriately grown fetuses prior to labour. Secondary outcomes were to correlate prenatal cardiac function with neonatal acid base status, intrapartum fetal heart rate abnormalities adverse neonatal outcomes. METHODS: This was a blinded, prospective, observational, cohort study, at the Mater Mother's Hospital, Brisbane, Australia...
June 15, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28603918/cftr-france-a-national-relational-patient-database-for-sharing-genetic-and-phenotypic-data-associated-with-rare-cftr-variants-a
#16
Mireille Claustres, Corinne Theze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie-Pierre Audrezet, Ingrid Dugueperoux, Claude Ferec, Guy Lalau, Adrien Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Eric Bieth, Marie-Claire Malinge, Marie-Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil
Most of 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years' experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis and asymptomatic compound heterozygotes...
June 12, 2017: Human Mutation
https://www.readbyqxmd.com/read/28602654/the-human-fetus-preferentially-engages-with-face-like-visual-stimuli
#17
Vincent M Reid, Kirsty Dunn, Robert J Young, Johnson Amu, Tim Donovan, Nadja Reissland
In the third trimester of pregnancy, the human fetus has the capacity to process perceptual information [1-3]. With advances in 4D ultrasound technology, detailed assessment of fetal behavior [4] is now possible. Furthermore, modeling of intrauterine conditions has indicated a substantially greater luminance within the uterus than previously thought [5]. Consequently, light conveying perceptual content could be projected through the uterine wall and perceived by the fetus, dependent on how light interfaces with maternal tissue...
June 19, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28578511/cranial-ultrasound-is-a-reliable-first-step-imaging-in-children-with-suspected-craniosynostosis
#18
L Pogliani, G V Zuccotti, M Furlanetto, V Giudici, A Erbetta, L Chiapparini, L Valentini
PURPOSE: Skull radiography (SR) and Computed Tomography (CT) are still proposed as the first-line imaging choice for the diagnosis of craniosynostosis (CS) in children with abnormal head shape, but both techniques expose infants to ionizing radiation. Several studies shown that ultrasound may play an important role in the diagnosis of craniosynostosis. The aim of our study is to assess the diagnostic accuracy of cranial ultrasound scan (CUS) and confirm if it is a reliable first step imaging evaluation for the diagnosis of craniosynostosis in newborn...
June 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28571730/serum-neuronal-biomarkers-in-neonates-with-congenital-heart-disease-undergoing-cardiac-surgery
#19
Erin Trakas, Yuliya Domnina, Ashok Panigrahy, Tracy Baust, Patrick M Callahan, Victor O Morell, Ricardo Munoz, Michael J Bell, Joan Sanchez-de-Toledo
BACKGROUND: Newborns with congenital heart disease have associated brain damage that affects short-and long-term neurodevelopment. Several neuronal biomarkers exist that could predict brain damage. We investigated the pattern of neuron-specific enolase (NSE) and s100B levels after cardiopulmonary bypass surgery in neonates with congenital heart disease. METHODS: We completed a prospective observational study of neonates with congenital heart disease who were undergoing cardiopulmonary bypass surgery...
July 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28561226/neonatal-arterial-ischemic-stroke-a-hospital-based-active-surveillance-study-in-germany
#20
Mathias Klemme, Lucia Gerstl, Raphael Weinberger, Martin Olivieri, Andreas Flemmer, Rüdiger von Kries, Ursula Felderhoff-Müser, Mark Dzietko
Background Neonatal arterial ischemic stroke (NAIS) accounts for substantial long term sequelae in children. The potential effectiveness of neuroprotective therapies needs to be evaluated in appropriate studies with sufficient power. Objective To identify annual number of NAIS cases in Germany potentially eligible for randomized interventional trials. Methods Active surveillance for NAIS in 345 pediatric hospitals with questionnaire based validation of reported cases. Results Incidence of NAIS (7.1/100000 births) was in the range of other population-based studies...
May 2017: Klinische Pädiatrie
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