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https://www.readbyqxmd.com/read/28755196/the-qu%C3%A3-bec-ntbc-study
#1
Fernando Alvarez, Suzanne Atkinson, Manon Bouchard, Catherine Brunel-Guitton, Daniela Buhas, Jean-François Bussières, Josée Dubois, Daphna Fenyves, Paul Goodyer, Martyne Gosselin, Ugur Halac, Patrick Labbé, Rachel Laframboise, Bruno Maranda, Serge Melançon, Aicha Merouani, Grant A Mitchell, John Mitchell, Guy Parizeault, Luc Pelletier, Véronique Phan, Jean-François Turcotte
In this chapter we describe the current Quebec NTBC Study protocol. Quebec's unique characteristics have influenced the development of the protocol, including a high prevalence of hepatorenal tyrosinemia (HT1), universal newborn screening for HT1, availability of treatment with nitisinone (NTBC) and special diet, a large territory, where HT1 treatment is coordinated by a small number of centers. Screened newborns are seen within 3 weeks of birth. Patients with liver dysfunction (prolonged prothrombin time and/or international normalized ratio (INR) provide sensitive, rapidly available indicators) are treated by NTBC and special diet...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28753546/comparison-of-healthcare-utilization-and-outcomes-by-gestational-diabetes-diagnostic-criteria
#2
Julianne R Lauring, Allen R Kunselman, Jaimey M Pauli, John T Repke, Serdar H Ural
OBJECTIVE: To compare healthcare utilization and outcomes using the Carpenter-Coustan (CC) criteria vs. the National Diabetes Data Group (NDDG) criteria for gestational diabetes mellitus (GDM). METHODS: This is a retrospective cohort study. Prior to 8/21/2013, patients were classified as "GDM by CC" if they met criteria. After 8/21/2013, patients were classified as "GDM by NDDG" if they met criteria and "Meeting CC non-GDM" if they met CC, but failed to reach NDDG criteria...
July 29, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28749401/use-of-real-time-ultrasound-for-locating-tip-position-in-neonates-undergoing-peripherally-inserted-central-catheter-insertion-a-pilot-study
#3
Nagsen Telang, Deepak Sharma, Oleti Tejo Pratap, Hemasree Kandraju, Srinivas Murki
BACKGROUND & OBJECTIVES: Securing long-term venous access is an essential part of sick newborn care. The malposition of central line tip leads to several complications. There is a need for an easily available bedside investigating tool to diagnose these malpositions. This study was done to compare the effectiveness of real-time ultrasound (RTUS) with X-ray in identifying the peripherally inserted central catheter (PICC) line tip. METHODS: This pilot observational study was conducted in a level III Neonatal Intensive Care Unit of a tertiary care hospital in India, from June 2012 to June 2013...
March 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28748276/resuming-the-obsolete-term-small-head-when-microcephaly-occurs-without-cognitive-impairment
#4
Piero Pavone, Andrea D Praticò, Martino Ruggieri, Renata Rizzo, Raffaele Falsaperla
Microcephaly is defined as a head circumference measurement of 2 or 3 standard deviations below the mean for age and sex. However, distinguishing the value of -2 or -3 standard deviations as a cutoff is relevant in the clinical practice, since the limit of -3 standard deviations is more frequently associated with cognitive impairment. The use of ultrasound scans in pregnancy has allowed the identification of subjects with a measurement of the head circumference at the limit of the cutoff for gestational age, but who do not subsequently show cognitive delay...
July 26, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28748224/utility-of-genetic-testing-for-confirmation-of-abnormal-newborn-screening-in-disorders-of-long-chain-fatty-acids-a-missed-case-of-carnitine-palmitoyltransferase-1a-cpt1a-deficiency
#5
Leah Dowsett, Lauren Lulis, Can Ficicioglu, Sanmati Cuddapah
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency-a rare autosomal recessive disorder of long-chain fatty acid oxidation...
June 2017: International Journal of Neonatal Screening
https://www.readbyqxmd.com/read/28748016/-hepatic-hematoma-in-neonates-about-a-case
#6
Hanae Harchaoui, Bousayna Iraqi, Houria Knouni, Youness Taboz, Hasnae Benkirane, Hassan Aguenaou, Amina Barkat
Hepatic hematoma is a condition of unrecognized origin which can become extremely serious and whose diagnosis is often made during perinatal autopsy. It is often characterised by nonspecific clinical manifestations and a long delay before biological presentation.The diagnosis is essentially based on ultrasound and treatment is often conservative.We here report a case of a full-term newborn with asymptomatic hepatic haematoma due to obstetrical trauma.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28746173/ultrasonographic-diagnosis-and-minimally-invasive-treatment-of-a-patent-urachus-associated-with-a-patent-omphalomesenteric-duct-in-a-newborn-a-case-report
#7
Mirko Bertozzi, Nicola Recchia, Giuseppe Di Cara, Sara Riccioni, Victoria Elisa Rinaldi, Susanna Esposito, Antonino Appignani
RATIONAL: Patent urachus (PU) is due to an incomplete obliteration of the urachus, whereas patent omphalomesenteric duct (POMD) is due to an incomplete obliteration of the vitelline duct. These anomalies are very rarely associated with one another. We describe a case of a newborn with a PU associated with a POMD, who was diagnosed by an abdominal ultrasound (US) and laparoscopy, and managed with a minimally invasive excision. PATIENT CONCERN: A 28-day-old male neonate was referred to our hospital to investigate a delay in umbilical healing, with blood-mucinous material spillage for 3 weeks prior to the referral...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28737875/-intestinal-cystic-duplication-case-report
#8
Ana Herranz Barbero, Jordi Prat Ortells, M Elena Muñoz Fernández, Montserrat Castañón García-Alix, Josep Figueras Aloy
Intestinal cystic duplications are rare congenital anomalies, with an estimated incidence of approximately 1:4500 autopsies. The etiopathogenesis is uncertain. These duplications are cystic, tubular or diverticular structures lined with gastrointestinal mucosa. They share a common smooth muscle wall with the gastrointestinal tract but usually their lumens do not communicate with each other. Gastric duplication cysts represent 7-9% of the gastrointestinal tract duplication. They can be diagnosed prenatally by fetal ultrasound; magnetic resonance imaging characterizes the cyst and excludes other malformations...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731670/calcaneus-osteomyelitis-secondary-to-guthrie-test-case-report
#9
Tugce Tural Kara, Tugba Erat, Halil Ozdemir, Aysun Yahsi, Suat Fitoz, Ergin Ciftci, Erdal Incea
Calcaneus osteomyelitis is a rare infection in newborns. Invasive procedures, prematurity and low birth wight are some causative factors. The clinical signs may be mild. We report a neonate with calcaneous osteomyelitis which was secondary to a Guthrie test sample. She was admitted to hospital with swelling, redness and increased temperature on her heel. Superficial tissue ultrasound showed fluid collection with heavy content was observed on the posterior of the right foot. Puncture and drainage was performed and methicillin-susceptible Staphylococcus aureus was isolated from the drainage culture...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28729176/infant-nephrolithiasis-and-nephrocalcinosis-natural-history-and-predictors-of-surgical-intervention
#10
Veridiana Andrioli, Kerri Highmore, Michael P Leonard, Luis A Guerra, Kenneth Tang, Jennifer Vethamuthu, Victoria Meyers, Katrina J Sullivan, Melise A Keays
INTRODUCTION: Renal stone disease diagnosed in the first year of life is relatively uncommon. While risk factors such as low birth weight, furosemide exposure, and metabolic disorders are well established, there exists little information regarding resolution rates and need for surgical intervention. Our study objective was to evaluate urolithiasis and renal calcification resolution rates, time to resolution, and need for surgical intervention in children diagnosed in their first year of life...
July 10, 2017: Journal of Pediatric Urology
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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