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https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#1
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27912790/fetal-malformation-in-maternal-toxoplasma-and-rubella-co-infection-in-cameroon-a-case-report
#2
Andreas Ateke Njoh, Sarah Namondo Njoh, Messang Blandine Abizou
BACKGROUND: There has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition. CASE PRESENTATION: A 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27910710/management-of-a-pregnant-woman-with-thyrotropinoma-a-case-report-and-review-of-the-literature
#3
Carolina M Perdomo, Jorge A Árabe, Miguel Á Idoate, Juan C Galofré
INTRODUCTION: Pituitary disorders during pregnancy are uncommon. The approach should include a close follow-up in order to reduce maternal and fetal risks associated with physiological changes during pregnancy or treatment side effects. MATERIALS AND METHODS: We report a 21-year-old woman with a thyroid-stimulating hormone-secreting pituitary macroadenoma and positive antithyroid antibodies. She was initially treated using transsphenoidal pituitary surgery. The patient relapsed 17-month post-surgery...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27909936/disability-depression-diagnosis-and-harm-reflections-on-two-personal-scenarios
#4
G Thomas Couser
In this article I draw on two scenarios from my personal life-the diagnosis of my newborn grandnephew with CHARGE syndrome and the diagnosis of my father with depression-to reflect on whether and when diagnosis may be harmful to patients (and their families). Despite the great differences between the two scenarios, I argue that in both cases the tendency of diagnosis to generalize, categorize, and stigmatize can lead to insidious and counterproductive effects. The perspective of disability studies can help physicians to anticipate, minimize or avoid these negative ramifications...
December 1, 2016: Journal of Medical Humanities
https://www.readbyqxmd.com/read/27909691/6q24-transient-neonatal-diabetes-how-to-manage-while-waiting-for-genetic-results
#5
Julie Fudvoye, Khaldoun Farhat, Virginie De Halleux, Corina Ramona Nicolescu
Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27906195/congenital-hypothyroidism-with-delayed-thyroid-stimulating-hormone-elevation-in-premature-infants-born-at-less-than-30-weeks-gestation
#6
D C Kaluarachchi, T T Colaizy, L M Pesce, M Tansey, J M Klein
OBJECTIVE: Congenital hypothyroidism (CH) with delayed thyroid-stimulating hormone (TSH) elevation is a common form of thyroid dysfunction among premature infants. Routine newborn screening (NBS) may miss infants with CH with delayed TSH elevation. The objective of the study is to determine the prevalence of CH with delayed TSH elevation in premature infants and to identify associated risk factors. STUDY DESIGN: Retrospective analysis of serum thyroid function screening (TFS) at day of life 30 in premature infants <30 weeks gestation, admitted to University of Iowa Neonatal Intensive Care Unit between 1 July 2012 to 30 June 2015...
December 1, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27903815/neonatal-vitamin-d-status-and-risk-of-multiple-sclerosis-a-population-based-case-control-study
#7
Nete Munk Nielsen, Kassandra L Munger, Nils Koch-Henriksen, David M Hougaard, Melinda Magyari, Kristian T Jørgensen, Marika Lundqvist, Jacob Simonsen, Tine Jess, Arieh Cohen, Egon Stenager, Alberto Ascherio
OBJECTIVE: As previous research has suggested that exposure to vitamin D insufficiency in utero may have relevance for the risk of multiple sclerosis (MS), we aimed to examine the direct association between level of neonatal vitamin D and risk of MS. METHODS: We carried out a matched case-control study. Dried blood spots samples (DBSS) belonging to 521 patients with MS were identified in the Danish Newborn Screening Biobank. For every patient with MS, 1-2 controls with the same sex and birth date were retrieved from the Biobank (n = 972)...
November 30, 2016: Neurology
https://www.readbyqxmd.com/read/27903579/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency-mcadd-a-cause-of-severe-hypoglycaemia-in-an-apparently-well-child
#8
Kene Ebuka Maduemem
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD) is a disorder of fatty acid β oxidation inherited in an autosomal recessive manner. The enzyme is useful in hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting. It is a cause of hypoketotic hypoglycaemia in a previously well child. MCADD is not part of newborn screening in Ireland; children are likely to be missed if routine hypoglycaemic screen is not instituted when blood glucose level is below 2...
November 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27898926/assessment-of-serum-25-hydroxyvitamin-d-concentrations-of-beef-cows-and-calves-across-seasons-and-geographical-locations
#9
C D Nelson, J L Powell, D M Price, M J Hersom, J V Yelich, M E Drewnoski, S L Bird, G Allen Bridges
Vitamin D is critical for the growth and development of calves and positively contributes to immune function of cattle. Serum 25-hydroxyvitamin D (25(OH)D) concentrations above 20 ng/mL have traditionally been considered adequate for growth and development of cattle, but recent evidence has indicated that concentrations below 30 ng/mL are insufficient for immunity. Because little information is available regarding vitamin D status of beef cattle, the objective of this study was to evaluate vitamin D status of beef cow-calf herds on pasture as affected by season and location...
September 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898626/dental-trauma-in-a-pediatric-emergency-department-referral-center
#10
Emily Hall, Patricia Hickey, Thuy Nguyen-Tran, Jeff Louie
OBJECTIVE: The purpose of this study was to describe dental and associated oral injuries in a pediatric population that presents to an emergency department. METHODS: We performed a retrospective study and identified children from January 2007 to September 2011. Charts were reviewed for any subject, age from newborn to younger than 19 years, based on International Classification of Diseases, Ninth Revision codes for any dental or oral injury. Data abstraction included demographics, time of day of presentation, location and identification of tooth (s) injured, management, and disposition...
December 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27898585/growth-and-development-in-children-with-classic-congenital-adrenal-hyperplasia
#11
Walter Bonfig
PURPOSE OF REVIEW: Final height outcome in classic congenital adrenal hyperplasia (CAH) has been of interest for many years. With analysis of growth patterns and used glucocorticoid regimens, enhanced treatment strategies have been developed and are still under development. RECENT FINDINGS: Most of the current reports on final height outcome are confirmative of previous results. Final height data is still reported in cohorts that were diagnosed clinically and not by newborn screening...
November 24, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27896170/postoperative-gastric-perforation-in-a-newborn-with-duodenal-atresia
#12
Anko Antabak, Marko Bogović, Jurica Vuković, Ruža Grizelj, Vinka Barbarić Babić, Dino Papeš, Tomislav Luetić
Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation.
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896164/more-distally-located-duodenal-webs-a-case-series
#13
Rahul Gupta, Praveen Mathur, Sharanabasappa Gubbi, Pradeep Kumar Gupta, Ramendra Shukla, Anu Bhandari
Duodenal atresia is a frequent cause of intestinal obstruction in the newborn. Obstruction due to duodenal web is infrequent, but its location other than second part of duodenum is rare with only a few cases reported in the literature. We are reporting three patients where we found duodenal webs at unusual locations. In one neonate the web was located at third part of duodenum and in other two patients the web was present at duodeno-jejunal junction (DJ).
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895906/respiratory-distress-associated-with-heterotopic-gastrointestinal-cysts-of-the-oral-cavity-a-case-report
#14
Marco Antonio Méndez Sáenz, Mario de Jesús Villegas González, Marco A Ponce Camacho, Lucia M Cavazos Cavazos, Bárbara Sáenz Ibarra, Blanca I Esquivel García, José Luis Treviño González
Heterotopic gastrointestinal cysts of the oral cavity are benign lesions usually discovered during infancy. Their pathogenesis is not very clear. They are rare congenital anomalies that result from remnants of foregut-derived epithelium in the head, neck, thorax or abdomen during embryonic development. The majority of these lesions occur in the anterior ventral surface of the tongue and extend to the floor of the mouth. They are confused clinically by surgeons in cases of head and neck masses in children as ranulas, dermoid and thyroglossal cysts, and lymphangioma...
December 2016: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/27894916/reliability-of-extended-dorsal-intercostal-artery-perforator-propeller-flaps-for-reconstruction-of-large-myelomeningocele-defects
#15
Goktekin Tenekeci, Yavuz Basterzi
Reconstruction of large myelomeningocele defects using extended (elongated beyond the lateral margin of the latissimus dorsi muscle) dorsal intercostal artery perforator (DICAP) propeller flaps is not recommended by previous studies. However, to provide tension-free and successful closure of a defect, the DICAP propeller flaps must sometimes be elongated beyond this margin. Our experience and results in this issue are discussed. In this article, reconstruction of 11 consecutive cases, with large myelomeningocele defects in which standard DICAP propeller flaps were incapable to close the defect, was achieved using extended DICAP propeller flaps between June 2013 and November 2015...
November 15, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/27894621/glomerulocystic-kidney-presenting-as-a-unilateral-kidney-mass-in-a-newborn-with-tuberous-sclerosis-report-of-a-case-and-review-of-the-literature
#16
Miguel Rito, Rafael Adame Cabrera
Glomerular cysts are defined as a 2-3 times dilation of Bowman spaces and their presence in at least 5% of the glomeruli defines the kidneys as glomerulocystic (GCK). The association between cystic kidney disease and the tuberous sclerosis complex (TSC) is well known, but its presentation as a unilateral mass with glomerulocystic pattern is rare. We describe a case of an infant with a prenatal diagnosis of TSC, with a renal mass that was believed to be a renal tumor. A four-month-old infant with maternal history of TSC and prenatally diagnosed subependymal nodules and a right renal mass underwent nephrectomy...
November 18, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27892802/longitudinal-changes-and-correlations-of-bio-impedance-and-anthropometric-measurements-in-pregnancy-simple-possible-bed-side-tools-to-assess-pregnancy-evolution
#17
Gabriele Piuri, Enrico Ferrazzi, Camilla Bulfoni, Luciana Mastricci, Daniela Di Martino, Attilio Francesco Speciani
PURPOSE: the aim of this study was to assess longitudinal changes of bio-impedance analysis compared with anthropometric measurements in low risk pregnant woman recruited in the first trimester, and to observe possible differences in these indices in women who developed high risk pregnancies. MATERIAL AND METHODS: bio-impedance indices, for the three trimesters of pregnancies were calculated separately for uneventful pregnancies delivered of newborns > the 10(th) centile...
November 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27892784/management-and-outcome-challenges-in-newborns-with-gastroschisis-a-6-year-retrospective-french-study
#18
B Tosello, M Zahed, F Guimond, K Baumstarck, A Faure, F Michel, O Claris, C Gire, I Berakdar, J Massardier, C D'Ercole, T Merrot
OBJECTIVE: to identify the gestational age (GA) at which risk of mortality and severe outcome was minimized comparing preterm delivery and expectant management. METHODS: Retrospective study performed between 2009 to 2014 of newborns with gastroschisis in three large French level III neonatal intensive care units. Each department followed two distinct strategies: elective delivery at 35 weeks GA and, a delayed approach. RESULTS: We included 69 gastroschisis cases...
November 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27892440/urinary-tract-infection-in-asymptomatic-newborns-with-prolonged-unconjugated-hyperbilirubunemia-a-hospital-based-observational-study-from-western-region-of-nepal
#19
T Malla, B Sathian, K Karmacharya Malla, S Adhikari
Background Urine culture is usually not a part of work-up for neonatal unconjugated hyperbilirubinemia; hence its prevalence remains unknown. Objective This study was done to determine the incidence of urinary tract infection (UTI) in asymptomatic newborns with prolonged unconjugated hyperbilirubinemia and to evaluate which other laboratory parameters are associated with UTIs. Method A prospective observational study where jaundiced newborns otherwise clinically well, were evaluated for UTI. The study was carried out in neonatal intensive care unit of Manipal Teaching Hospital, Pokhara from June 2012 -April 2013...
January 2016: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/27891272/spontaneous-rupture-of-uterine-artery-in-a-14-week-pregnant-woman
#20
João Paulo Mancusi de Carvalho, Luciano Augusto de Carvalho Severo, Maria Helena Mancusi de Carvalho, Marina de Paula Andres, Mariano Tamura Vieira Gomes, Sergio Podgaec
We report a case of uterine artery rupture in a woman at 14 weeks' gestation who presented with abdominal pain, tachycardia, and hypotension and underwent a diagnostic laparoscopy. During this procedure, a spontaneous rupture of the left uterine artery was diagnosed and the surgery was converted into a laparotomy. The artery was bound to its origin and to its distal uterine portion. The patient exhibited excellent postoperative recovery and was discharged two days after the surgery. The pregnancy continued without other maternal or fetal complications, and the patient delivered a healthy newborn via cesarean section at 39 weeks of gestation...
2016: Case Reports in Obstetrics and Gynecology
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