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https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#1
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323852/extraction-of-features-from-sleep-eeg-for-bayesian-assessment-of-brain-development
#2
Vitaly Schetinin, Livija Jakaite
Brain development can be evaluated by experts analysing age-related patterns in sleep electroencephalograms (EEG). Natural variations in the patterns, noise, and artefacts affect the evaluation accuracy as well as experts' agreement. The knowledge of predictive posterior distribution allows experts to estimate confidence intervals within which decisions are distributed. Bayesian approach to probabilistic inference has provided accurate estimates of intervals of interest. In this paper we propose a new feature extraction technique for Bayesian assessment and estimation of predictive distribution in a case of newborn brain development assessment...
2017: PloS One
https://www.readbyqxmd.com/read/28320034/variations-in-infant-cyp2b6-genotype-associated-with-the-need-for-pharmacological-treatment-for-neonatal-abstinence-syndrome-in-infants-of-methadone-maintained-opioid-dependent-mothers
#3
Helen Mactier, Poppy McLaughlin, Cheryl Gillis, Michael David Osselton
Background Neonatal abstinence syndrome (NAS) in infants of methadone-maintained opioid-dependent (MMOD) mothers cannot be predicted in individual cases. We investigated whether variation in infant genotype is associated with severity of NAS. Methods This is a pilot observational cohort study of 21 MMOD mothers and their newborns. Infant buccal swabs were obtained soon after delivery, together with a maternal blood sample for the determination of maternal plasma methadone concentration. Genomic variation in five opioid-related genes (ABCB1, COMT, CYP2B6, CYP2D6, and OPRM1) was ascertained from infant buccal swabs and related to need for pharmacological treatment of NAS...
March 20, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28319846/presence-of-cytomegalovirus-in-urine-and-blood-of-pregnant-women-with-primary-infection-might-be-associated-with-fetal-infection
#4
Marie-Luce Delforge, Elena Costa, Françoise Brancart, Deborah Goldman, Isabel Montesinos, Siham Zaytouni, Arnaud Marchant, Catherine Donner
BACKGROUND: Cytomegalovirus (CMV) congenital infection can result from primary infection, reinfection or reactivation among pregnant women. The risk of vertical transmission is much higher in case of primary infection, and the transmission rate increases with gestational age. However there are still many questions about maternal markers that can predict whether the virus will be transmitted to the fetus. OBJECTIVES: To investigate the relationship between the presence and the quantity of CMV in urine and blood of women presenting a primary CMV infection during pregnancy and the presence of congenital infection in their offspring...
March 7, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28306540/4d-assessment-of-fetal-brain-function-in-diabetic-patients
#5
Panagiotis Antsaklis, Selma Porovic, George Daskalakis, Asim Kurjak
OBJECTIVE: To assess whether there is a difference in the behavior of fetuses of pregnant women with diabetes under treatment with insulin, compared to fetuses of pregnant women without diabetes. MATERIALS AND METHODS: Kurjak's antenatal neurodevelopmental test (KANET) - a method that, by application of four-dimensional (4D) ultrasound, assesses fetal behavior in a similar way that neonatologists perform a neurological assessment in newborns - was applied from 28 to 38 weeks of gestation to 40 pregnancies with pre-existing diabetes mellitus or gestational diabetes mellitus (GDM) requiring insulin (diabetic group) and to 40 non-diabetic cases, with otherwise low-risk pregnancies (non-diabetic group)...
March 17, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28304324/assessment-of-serum-apolipoprotien-b-and-apolipoprotein-a-1-and-their-ratio-in-healthy-full-term-small-for-gestational-age-newborns
#6
A Agrawal, J Shrivastava, R Dwivedi, M Siddiqui
BACKGROUND: Programmed changes in growth restricted fetuses can increase the risk of adulthood diseases due to elevated serum cholesterol and apolipoprotein-B (Apo-B) concentrations. Increasing evidence demonstrated the role of apoB/apoA-I ratio as a strong risk factor for cardiovascular diseases. OBJECTIVE: To determine the concentration of cord blood lipoproteins and apolipoproteins as well as their correlation with birth weight. METHODS: This cross-sectional study was conducted in a teaching institution of central India...
March 16, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28304101/the-value-of-prenatal-ultrasonographic-diagnosis-of-diastematomyelia
#7
Qiuju Wei, Ailu Cai, Xintian Wang, Xiaoguang Wang, Limei Xie
OBJECTIVES: To evaluate the value of prenatal ultrasonographic diagnosis of diastematomyelia, and to provide a basis for the diagnosis and differential diagnosis of fetal diastematomyelia. METHODS: Four fetuses with suspected diastematomyelia based on prenatal ultrasonography are presented. Detailed prenatal ultrasonography was performed to examine spinal cord abnormalities. The region of interest-based spine sagittal plane was defined and 3D volumetric scans were performed, as needed...
March 17, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#8
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#9
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28302240/a-rare-fetal-firearm-injury
#10
Imran Hashim, Nabila Talat
Firearm injury (FAI) in pregnant women is reported in the literature; however, no reference to date was found to address the neonatal abdominal surgery performed after maternal FAI. FAI during fetal life is extremely rare and very few cases have been reported. We present a report of a 37-week gestation newborn whose mother had an accidental FAI. The neonate was delivered by emergency caesarian section along with emergency laparotomy of the newborn. The baby presented at eight hours of life, who was managed surgically in emergency for multiple small and large bowel perforations and a piece of bullet was recovered from anterior part of thigh...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28301882/infantile-hemangioma-of-the-posterior-fossa-in-a-newborn-early-management-and-long-term-follow-up
#11
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/28301484/health-facility-service-availability-and-readiness-for-intrapartum-and-immediate-postpartum-care-in-malawi-a-cross-sectional-survey
#12
Naoko Kozuki, Lolade Oseni, Angella Mtimuni, Reena Sethi, Tambudzai Rashidi, Fannie Kachale, Barbara Rawlins, Shivam Gupta
This analysis seeks to identify strengths and gaps in the existing facility capacity for intrapartum and immediate postpartum fetal and neonatal care, using data collected as a part of Malawi's Helping Babies Breath program evaluation. From August to September 2012, the Maternal and Child Health Integrated Program (MCHIP) conducted a cross-sectional survey in 84 Malawian health facilities to capture current health facility service availability and readiness and health worker capacity and practice pertaining to labor, delivery, and immediate postpartum care...
2017: PloS One
https://www.readbyqxmd.com/read/28301411/retinal-phenotype-in-a-case-of-lchad-tfp-deficiency-with-late-stage-diagnosis
#13
Jacob A Knowles, Ioannis S Dimopoulos, Ian M MacDonald
PURPOSE: To report the retinal phenotype of a rare case of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/trifunctional protein (TFP) deficiency diagnosed in his late 40s with ocular findings of diffuse chorioretinal atrophy and bilateral retinoschisis. METHODS: An acylcarnitine profile assay revealed LCHAD/TFP deficiency in a 45-year-old man with a history of high myopia, bilateral decreased vision, episodic rhabdomyolysis, and peripheral neuropathy. Ocular findings were evaluated with spectral domain optical coherence tomography (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) and color fundus photography...
March 15, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28296740/diagnosis-and-treatment-of-communicating-bronchopulmonary-foregut-malformation-report-of-two-cases-and-review-of-the-literature
#14
Hongxia Ren, Liqiong Duan, Baohong Zhao, Xiaoxia Wu, Hongyi Zhang, Caixia Liu
RATIONALE: Communicating bronchopulmonary foregut malformation (CBPFM) is a rare congenital malformation involving both the digestive and respiratory systems. To our best knowledge, most cases of CBPFM reported in the literature were in infancy or adulthood and CBPFM in infantile is even rarer with a high case-fatality rate partly due to misdiagnosis. PATIENT CONCERNS: We presented 2 cases of neonatal CBPFM. A 11-hour male newborn was admitted because of moaning for 7 hours, and a 1-day male newborn was referred to us with profuse foams, choking on breast-milk feeding and facial cyanosis...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28295792/biventricular-impact-of-mild-to-moderate-pulmonary-valve-stenosis-in-fetal-life
#15
L Guirado, F Crispi, N Masoller, M Bennasar, E Marimon, J Carretero, E Gratacós, J M Martínez, M K Friedberg, O Gómez
OBJECTIVES: to define the pattern of fetal echocardiographic changes associated with isolated pulmonary valve stenosis (PS) and to correlate the echocardiographic findings with the neonatal outcome and the need of postnatal pulmonary valvuloplasty within the first 12 months of life. METHODS: a prospective cohort study was designed on 16 fetuses with isolated PS and 48 controls matched by gestational age at scan (+/- 2 weeks). Fetal standard ultrasound and comprehensive echocardiography, which included cardiovascular morphometric parameters, systolic and diastolic functional and timing-measurements, were performed in all cases...
March 10, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28294365/prevalence-of-prenatal-alcohol-exposure-in-the-state-of-texas-as-assessed-by-phosphatidylethanol-in-newborn-dried-blood-spot-specimens
#16
Ludmila N Bakhireva, Janet Sharkis, Shikhar Shrestha, Tristan J Miranda-Sohrabji, Sonnie Williams, Rajesh C Miranda
BACKGROUND: While 2-5% of school-aged children in the U.S. are estimated to be affected by Fetal Alcohol Spectrum Disorders (FASD), the prevalence of prenatal alcohol exposure (PAE) might be substantially under-reported. Our objective was to systematically estimate the prevalence of PAE in Texas by measuring a direct ethanol metabolite, phosphatidylethanol (PEth), in 1,000 infant residual dried blood spots (irDBS) in the Texas Newborn Screening Repository. METHODS: All Public Health Regions were represented proportional to their 2014 birth rate (~0...
March 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28293667/congenital-gingival-granular-cell-tumor-a-case-report
#17
Ceren Yıldırım, Tamer Zerener, Metin Şençimen, Özlem Martı Akgün, Hasan Ayberk Altuğ, Ali Fuat Çiçek
The congenital gingival granular cell tumor (CGCT), also as known as congenital epulis, is an unusual benign oral mucosal lesion in newborns. A two-day-old female patient was admitted to the Department of Pediatric Dentistry at Gulhane Medical Academy, Ankara, Turkey with her family, and an intraoral examination showed a CGCT located in the buccal region of the maxillary right first primary molar. In this report, we present a case of CGCT in a newborn.
March 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28291300/-possible-relation-between-antenatal-venlafaxine-use-and-vacterl-association-in-a-newborn-a-case-report
#18
Muammer Özgür Çevik, Mustafa Çelik, İbrahim Hakan Bucak, Behice Han Almış, Mehmet Turğut
Major depressive disorder is common during antenatal period and many women are prescribed antidepressant drugs despite no antidepressant can be regarded as definitely safe in pregnancy. Previous studies have suggested links between gestational use of selective serotonin reuptake inhibitors (SSRI) or serotonin and norepinephrine reuptake inhibitors (SNRI) and certain birth defects. VACTERL association is a rare group of congenital malformations which were observed to occur together more often than would be expected by chance...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28289851/withdrawal-of-artificial-nutrition-and-hydration-in-neonatal-intensive-care-parents-and-healthcare-practitioners-views
#19
Véronique Fournier, Elisabeth Belghiti, Laurence Brunet, Marta Spranzi
Withdrawing Artificial Nutrition and Hydration (WANH) in the neonatal intensive care units (NICUs) has long been controversial. In France, the practice has become a legal option since 2005. But even though, the question remains as to what the stakeholders' experience is, and whether they consider it ethically appropriate. In order to contribute to the debate, we initiated a study in 2009 to evaluate parental and health care professionals (HCP) perspectives, after they experienced WAHN for a newborn. The study included 25 cases from 5 different clinical neonatology departments...
March 13, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28289592/associations-of-biochemical-changes-and-maternal-traits-with-mutation-1843-c-t-in-the-ryr1-gene-as-a-common-cause-for-porcine-stress-syndrome
#20
Z T Popovski, B Tanaskovska, E Miskoska-Milevska, S Andonov, S Domazetovska
Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS)...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
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