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https://www.readbyqxmd.com/read/28935848/clinical-relevance-of-silent-red-blood-cell-autoantibodies
#1
Francesca R Mauro, Fabio Trastulli, Cristiano Alessandri, Guido Valesini, Gianluca Giovannetti, Costantino Riemma, Marika Porrazzo, Sara Pepe, Gioia Colafigli, Maria D Caputo, Maria S De Propris, Anna R Guarini, Gabriella Girelli, Serelina Coluzzi, Robin Foà
To evaluate the clinical significance of RBC autoantibodies in the absence of clinical signs of autoimmune hemolytic anemia (AHIA), we retrospectively analyzed the clinical course of 60 subjects with silent RBC autoantibodies (IgG, 24; IgM, 35; IgG+IgM, 1) diagnosed and followed at our institute. Asymptomatic RBC autoantibodies were detected in 5 (8.3%) pregnant females, 34 (56.7%) healthy individuals (blood donors, 32; subjects with abnormal agglutination of blood samples, 2) and 21 (35%) patients screened prior to surgery (benign disorders, 16; tumors, 5)...
September 21, 2017: Haematologica
https://www.readbyqxmd.com/read/28934873/subcutaneous-fat-necrosis-of-the-newborn-with-initial-hypocalcemia-and-familial-recurrence-a-case-report
#2
Amelia Kellar, Jennifer Aileen Tangtatco, Miriam Weinstein, Natasha Saunders
Subcutaneous fat necrosis of the newborn (SFNN) is a rare disorder characterised by indurated plaques or nodules with or without erythema, typically distributed over the cheeks, extremities, posterior trunk, buttocks, and thighs, and appears during the first 2 weeks of life. It is commonly associated with perinatal asphyxia and, while usually self-limited, can lead to severe hypercalcemia. There is no known familial association. The present article describes a neonate with extensive disease, counterintuitive hypocalcemia, and a family history of SFNN and reviews the existing literature on SFNN...
September 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#3
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28931318/thyroid-function-testing-in-neonates-with-maternal-history-of-disease
#4
Lisa Underland, Lisa Kenigsberg, Kristina Derrick, Rebecca Crespi, Tara Kaushal, Leslie Lam
Maternal history of thyroid disease can cause congenital hypothyroidism due to thyroid-stimulatng hormone (TSH) blocking antibodies. No guidelines exist regarding testing beyond the newborn screen. TSH and T4 levels exhibit significant fluctuations after birth which complicates testing. A total of 561 newborns with thyroid function testing done for maternal history of thyroid disease in the newborn nursery were identified retrospectively via chart review, and thyroid disease status was assessed in 352. Newborn screening data were also obtained...
September 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28930370/comparison-of-whole-genome-expression-profile-between-preterm-and-full-term-newborns
#5
Przemko Kwinta, Renata Bokiniec, Mirosław Bik-Multanowski, Clara-Cecilie Gunther, Agnieszka Grabowska, Teofila Książek, Anna Madetko-Talowska, Katarzyna Szewczyk, Monika Szwarc-Duma, Maria K Borszewska-Kornacka, Lars O Baumbusch, Cecilie Revhaug, Ola D Saugstad, Jacek J Pietrzyk
OBJECTIVES: Evaluate the time dependent expression of genes in preterm neonates and verify the influence of ontogenic maturation and the environmental factors on the gene expression after birth. MATERIAL AND METHODS: The study was carried out on 20 full-term newborns and 62 preterm newborns (mean birth weight = 1002 [g] (SD: 247), mean gestational age = 27.2 weeks (SD: 1.9)). Blood samples were drawn from all the study participants at birth and at the 36th week postmenstrual age from the preterm group to assess whole genome expression in umbilical cord blood and in peripheral blood leukocytes, respectively...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28929058/universal-hearing-screening-in-newborns-using-otoacoustic-emissions-and-brainstem-evoked-response-in-eastern-uttar-pradesh
#6
Ashwini Kumar, S C Gupta, V R Sinha
The objectives were to determine the incidence of hearing impairment in a standardized population of neonates and to determine the significance of association of epidemiological and risk factors with neonatal hearing loss. A cohort of 600 newborns was selected for study and divided into two groups-525 in 'No Risk' group and remaining 75 in 'At Risk' group. The study protocol was carried out in three steps: (a) Screening of Hearing Loss with TOAE, done from 36 h after birth to 28 days of life, (b) Re-screening of hearing loss in newborns (of 4-12 weeks of age), who were tested positive for hearing loss in the first screening, done with DPOAE, (c) Confirmation of hearing loss with BERA, in those who were tested positive in both the first and second screening...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28928911/prediction-of-low-birth-weight-delivery-by-maternal-status-and-its-validation-decision-curve-analysis
#7
Mehri Rejali, Marjan Mansourian, Zohre Babaei, Babak Eshrati
BACKGROUND: In this study, we evaluated assessed elements connected with low birth weight (LBW) and used decision curve analysis (DCA) to define a scale to anticipate the probability of having a LBW newborn child. METHODS: This hospital-based case-control study was led in Arak Hospital in Iran. The study included 470 mothers with LBW neonate and 470 mothers with natural neonates. Information were gathered by meeting moms utilizing preplanned organized questionnaire and from hospital records...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28928009/oropharyngeal-epignathus-with-partial-facial-duplication-report-of-a-rare-case
#8
M Herath, B S M S Siriwardena, R D Jayasinghe, D K Dias
Foetal oral teratoma or epignathus is a rare benign condition that originates in the oropharyngeal region. The term 'teratoma' refers to a mass composed of poorly organized tissues derived from each of the three germ layers. Epignathus may occur when one twin ceases development during gestation and becomes vestigial to the fully formed dominant twin. The reported incidence of epignathus is approximately 1:35,000 to 1:200,000 live births. A unique case of partial facial duplication with gross histological and radiological evidence of partial duplication of the facial elements and organs is presented herein...
September 16, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28926832/persistent-pulmonary-hypertension-of-the-newborn-in-twin-twin-transfusion-syndrome-a-case-control-study
#9
Manon Gijtenbeek, M C Haak, Derk Jan Ten Harkel, Arjan B Te Pas, Johanna M Middeldorp, Frans J C M Klumper, Nan van Geloven, Dick Oepkes, Enrico Lopriore
BACKGROUND: Persistent pulmonary hypertension of the newborn (PPHN) is associated with severe morbidity and mortality. Twin-twin transfusion syndrome (TTTS) is suggested to increase the risk of PPHN. OBJECTIVES: To describe the incidence of PPHN in TTTS twins and to identify risk factors in TTTS twins for the development of severe PPHN. METHODS: Cases with severe PPHN were extracted from our monochorionic twin database (2002-2016). Severe PPHN was defined as severe hypoxaemia requiring mechanical ventilation and inhaled nitric oxide (iNO) treatment, confirmed by strict echocardiographic criteria...
September 20, 2017: Neonatology
https://www.readbyqxmd.com/read/28926830/a-distinctive-ictal-amplitude-integrated-electroencephalography-pattern-in-newborns-with-neonatal-epilepsy-associated-with-kcnq2-mutations
#10
Ana Vilan, José Mendes Ribeiro, Pasquale Striano, Sarah Weckhuysen, Lauren C Weeke, Eva Brilstra, Linda S de Vries, Maria Roberta Cilio
BACKGROUND: Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm of the workup and management of neonatal seizures. OBJECTIVE: To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy...
September 20, 2017: Neonatology
https://www.readbyqxmd.com/read/28926779/cardiopulmonary-resuscitation-associated-injuries-in-still-newborns-infants-and-toddlers-in-a-german-forensic-collective
#11
B Ondruschka, C Baier, M Siekmeyer, C Buschmann, J Dreßler, M Bernhard
INTRODUCTION: Cardiopulmonary resuscitation (CPR) may lead to injuries. Forensic experts are sometimes confronted with claims that fatal injuries were caused by chest compressions during CPR rather than by assaults. We want to answer, how often CPR-associated injuries are present in younger children and if they may mimic injuries caused by abuse. MATERIAL AND METHODS: All autopsy records of the Institute of Legal Medicine in Leipzig, Germany in a 6-year study period were used (2011-2016)...
September 12, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28926319/case-246-mr-imaging-of-a-complex-cystic-mass-in-a-newborn-girl
#12
Aditi Shruti, George S Wu
History A 6-day-old female neonate presented to the outpatient pediatric surgery clinic for evaluation of a possible prenatal abdominal mass. The neonate was delivered at term via cesarean section due to macrosomia, with a reported birth weight of 11 lb 8.7 oz (5.23 kg). The patient's postnatal course was remarkable for resolving neonatal hyperbilirubinemia. A physical examination was remarkable for a palpable mass in the abdomen. Maternal risk factors included class II obesity, type 2 diabetes, and metabolic syndrome...
October 2017: Radiology
https://www.readbyqxmd.com/read/28924534/image-of-the-month-clinical-features-in-a-newborn-with-covered-cloacal-exstrophy
#13
Alejandra Vilanova-Sánchez, Christina B Ching, Alessandra C Gasior, Karen Diefenbach, Richard J Wood, Marc Levitt
Cloacal exstrophy is the most severe type of anorectal malformations that belongs to the bladder-exstrophy-epispadias complex of genitourinary malformations. Interestingly, its variant, the covered cloacal exstrophy, is often missed. The clinical findings of this variant may include an imperforate anus, low lying umbilicus, thick pubic bone, and pubic diastasis but with an intact abdominal wall. We present an interesting case of covered cloacal exstrophy with a side-by-side duplicated bladder and discuss important considerations for the time of colostomy creation in the newborn period...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28920027/rupture-of-umbilical-hernia-with-evisceration-in-a-newborn-a-case-report
#14
Dinesh H Kittur, Kailas P Bhandarkar, Santosh V Patil, Sudhakar S Jadhav
Most umbilical hernias in infants do not need surgery and the ring will eventually close. Occasionally few complications can arise and incarceration is most common. Spontaneous rupture of the hernia and eventual evisceration is a rarely seen complication. A 3-week-old neonate having umbilical hernia presented with rupture of the sac with evisceration of bowel within a few days of first visit. No underlying cause like umbilical sepsis was found. The baby had emergency repair of the hernia with an uneventful recovery...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28916742/haplotype-of-the-interleukin-17a-gene-is-associated-with-osteitis-after-bacillus-calmette-guerin-vaccination
#15
Matti Korppi, Johanna Teräsjärvi, Milla Liehu-Martiskainen, Eero Lauhkonen, Juho Vuononvirta, Kirsi Nuolivirta, Liisa Kröger, Laura Pöyhönen, Minna K Karjalainen, Qiushui He
Bacillus Calmette-Guerin (BCG) osteitis was more common in Finland than elsewhere at the time when universal BCG vaccinations were given to Finnish newborns. There is evidence that IL-17 plays a role in the defense against tuberculosis. The aim of this study was to evaluate the associations of IL17A rs4711998, IL17A rs8193036 and IL17A rs2275913 single-nucleotide polymorphisms (SNPs) with the risk of BCG osteitis after newborn vaccination. IL17A rs4711998, rs8193036 and rs2275913 SNPs were determined in 131 adults had presented with BCG osteitis after newborn BCG vaccination...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915261/simultaneous-determination-of-3-hydroxypropionic-acid-methylmalonic-acid-and-methylcitric-acid-in-dried-blood-spots-second-tier-lc-ms-ms-assay-for-newborn-screening-of-propionic-acidemia-methylmalonic-acidemias-and-combined-remethylation-disorders
#16
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28913151/harlequin-ichthyosis-a-rare-case
#17
Belide Shruthi, B R Nilgar, Anita Dalal, Nehaben Limbani
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28913140/a-rare-case-of-complete-penoscrotal-transposition-with-hypospadias-in-a-newborn
#18
Fatma Beyazıt, Eren Pek, Hakan Aylanç
No abstract text is available yet for this article.
March 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28910808/detecting-congenital-central-hypothyroidism-by-newborn-screening-difficulty-in-distinguishing-from-congenital-thyroxine-binding-globulin-deficiency
#19
Kara J Connelly, Melinda J Pierce, Cheryl Hanna, Stephen H LaFranchi
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. METHODS: We analyzed NBS and serum free and total T4, T3 resin uptake (T3RU) or TBG, and TSH for infants in the Northwest Regional NBS Program (NWRSP) between the years 2008 and 2015 with either CH-C or TBG deficiency...
September 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28905637/recent-changes-in-end-of-life-decisions-for-newborns-in-a-korean-hospital
#20
Myo-Jing Kim, Jin-Hyeok Lee, Hyoung-Doo Lee
INTRODUCTION: Despite recent advances in neonatal intensive care in Korea, few studies exist on the end-of-life decisions in newborns. In this study, we sought to examine the status of end-of-life decisions in neonates, changes over time, and affecting factors. METHODS: This is a retrospective study of neonates who died between 2001 and 2015 in the neonatal intensive care unit of Dong-A University Hospital in Busan. The types of end-of-life decisions were divided into active resuscitation, withholding treatment, and withdrawing treatment...
January 1, 2017: American Journal of Hospice & Palliative Care
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