keyword
MENU ▼
Read by QxMD icon Read
search

neonatal screening

keyword
https://www.readbyqxmd.com/read/29653003/-diagnosis-of-two-neonates-with-galactosemia-by-using-next-generation-sequencing
#1
Haiyan Zhang, Dong Chen, Chen Liu, Xingfeng Liu, Zhongtao Gai, Yi Liu
OBJECTIVE: To explore the genetic basis of two neonates suspected for galactosemia. METHODS: Next generation sequencing(NGS) was used to screen the whole exome of the neonates. Suspected mutation was validated by PCR and Sanger sequencing. Potential impact of novel mutation was predicted by using PolyPhen-2, MutationTaste and SIFT software. RESULTS: Both neonates harbored compound heterozygous mutations of the GALT gene inherited from their parents...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652955/-neurodevelopmental-assessment-of-patients-with-congenital-hypothyroidism
#2
Alicia Núñez, Paula Bedregal, Carlos Becerra, Francisca Grob L
Congenital hypothyroidism (CH) is the most common cause of preventable cognitive disability worldwide. Generally, it is produced by an alteration in the embryogenesis of the thyroid gland or by an alteration in the synthesis of thyroid hormones, which determine that affected patients have low or absent thyroid hormone concentrations. The importance of this fact is that brain development during the first three years of life is highly dependent on thyroid hormones. Prior to the implementation of national neonatal screening programs around the world, 8 to 27% of children with CH had an IQ lower than 70...
December 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29650690/the-genetic-characteristics-of-congenital-hypothyroidism-in-china-by-comprehensive-screening-of-21-candidate-genes
#3
Feng Sun, Jun-Xiu Zhang, Chang-Yi Yang, Guan-Qi Gao, Wen-Bin Zhu, Bing Han, Le-Le Zhang, Yue-Yue Wan, Xiao-Ping Ye, Yu-Ru Ma, Man-Man Zhang, Liu Yang, Qian-Yue Zhang, Wei Liu, Cui-Cui Guo, Gang Chen, Shuang-Xia Zhao, Ke-Yi Song, Huaidong Song
Objective Congenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited. Desgin and Methods One-hundred and ten patients with primary CH were recruited in this study. All exons and exon-intron boundaries of 21 candidate genes for CH were analyzed by next-generation sequencing. And the intertance pattern of causative genes was analysised by the study of family pedigrees...
April 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29643555/ultrasound-guided-internal-jugular-vein-cannulation-in-infants-comparative-evaluation-of-novel-modified-short-axis-out-of-plane-approach-with-conventional-short-axis-out-of-plane-approach
#4
Amit Rastogi, Aarti Agarwal, Puneet Goyal, Vansh Priya, Sanjay Dhiraaj, Rudrashish Haldar
Background and Aims: Central venous cannulation (CVC) through right internal jugular vein (IJV) route is routinely performed in paediatric patients undergoing major surgery and in those admitted to intensive care units. A novel technique (modified short-axis out-of-plane [MSA-OOP]) to improve first pass success rate of ultrasound-guided IJV CVC in neonates and infants is being compared with conventional SA-OOP method. Methods: A total of 120 patients were enroled in the study over a period of 6 months...
March 2018: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/29629049/risk-factors-associated-with-congenital-hypothyroidism-a-case-control-study-in-southeast-iran
#5
Mohammad Khammarnia, Fariba Ramezani Siakhulak, Hossein Ansari, Mostafa Peyvand
Background and aim: Congenital hypothyroidism (CH) is known as one of the most common preventable cause of mental retardation. This study aimed to determine factors associated with CH in Iran. Methods: This case-control study was conducted on 160 children under one year old in Zahedan in southeast Iran in 2016. The neonates who were born from March 1, 2015 to March 19, 2016 and had undergone a screening program for CH were the study population. The neonates with serum TSH > 10mIu/L and T4 < 6...
February 2018: Electronic Physician
https://www.readbyqxmd.com/read/29628851/renal-oxalate-stones-in-children-with-zellweger-spectrum-disorders
#6
Hamdan Hammad Alhazmi
Peroxisomal biogenesis disorders due to PEX gene defects are classified into many subgroups, of which Zellweger spectrum disorders (ZSDs) represent the major subgroup. The ZSDs are clinical and biochemical disorders divided into three phenotypes: neonatal, adolescence, or adult. Clinical presentations vary with severity of the condition. Metabolic abnormalities occur due to functional peroxisomal defects that could be detected in blood and urine. No cure or definitive management exists to date; only supportive and palliative measures are applied to prevent worse sequelae...
April 2018: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29625733/evidence-of-echocardiographic-markers-of-pulmonary-vascular-disease-in-asymptomatic-infants-born-preterm-at-one-year-of-age
#7
Philip T Levy, Meghna D Patel, Swati Choudhry, Aaron Hamvas, Gautam K Singh
OBJECTIVE: To test the hypothesis that echocardiographic markers of pulmonary vascular disease (PVD) exist in asymptomatic infants born preterm at 1-year corrected age. STUDY DESIGN: We conducted a prospective cohort study of 80 infants born preterm (<29 weeks of gestation) and 100 age- and weight-matched infants born at term and compared broad-based conventional and quantitative echocardiographic measures of pulmonary hemodynamics at 1-year corrected age. Pulmonary artery acceleration time (PAAT), a validated index of pulmonary vascular resistance, arterial pressure, and compliance, was used to assess pulmonary hemodynamics...
April 3, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29624818/incidence-of-hbv-infection-in-young-chinese-blood-donors-born-after-mandatory-implementation-of-neonatal-hepatitis-b-vaccination-nationwide
#8
Xi Tang, Jean-Pierre Allain, Hao Wang, Xia Rong, Jinyan Chen, Ke Huang, Ru Xu, Min Wang, Jieting Huang, Qiao Liao, Zhengang Shan, Shengxue Luo, Tingting Li, Chengyao Li, Yongshui Fu
This study was carried out to determine the incidence of HBV infection in the young generation born after mandatory implementation of hepatitis B vaccination since 1992. Repeat blood donors born between 1992 and 1997 were enrolled, who gave blood at least twice during the past three years. Donors were tested for HBV infection markers of HBsAg, anti-HBc, anti-HBs and viral DNA by immunoassays (EIAs) and nucleic acid tests (NAT). A total of 14937 pre-donation screening qualified young repeat donors aged 18-23 were tested with 9 (0...
April 6, 2018: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/29622026/evidence-of-the-factors-that-influence-the-utilisation-of-kangaroo-mother-care-by-parents-with-low-birth-weight-infants-in-low-and-middle-income-countries-lmics-a-scoping-review-protocol
#9
Christina T Mathias, Solange Mianda, Themba G Ginindza
BACKGROUND: The Sustainable Development Goal (SDG) 3 emphasises on reducing neonatal deaths caused by low birth weight (LBW) complications by the implementation and utilisation of Kangaroo Mother Care (KMC) in low- and middle-income countries (LMICs). Despite the empirical evidence of KMC optimising low-birth-weight infants' (LBWIs') survival, its advantages and the LMICs implementing the service, studies have shown that LBW infant deaths occurring in LMICs are largely contributing to global child mortality...
April 5, 2018: Systematic Reviews
https://www.readbyqxmd.com/read/29621506/parents-knowledge-and-education-of-retinopathy-of-prematurity-in-four-california-neonatal-intensive-care-units
#10
Monica Eneriz-Wiemer, Shih-Dun Liu, Michael Cy Chu, Tarsicio Uribe-Leitz, Krishna Rajani, Meera Sankar, Shira L Robbins, Henry C Lee, Claire Woodard, C Jason Wang
PURPOSE: Retinopathy of prematurity (ROP) may cause visual impairment in infants with very low birth weight. Lack of parent knowledge may contribute to gaps in screening and treatment. We studied parents' knowledge and education of ROP. DESIGN: Cross-sectional study. METHODS: SETTING: Four high-acuity neonatal intensive care units in California (40-84 beds). PARTICIPANTS: 194 English- and Spanish-speaking parents of very low birth weight (<1,500 grams) infants recruited from September 2013 to April 2015...
April 2, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29621387/diagnostic-accuracy-of-ophthalmoscopy-vs-telemedicine-in-examinations-for-retinopathy-of-prematurity
#11
Hilal Biten, Travis K Redd, Chace Moleta, J Peter Campbell, Susan Ostmo, Karyn Jonas, R V Paul Chan, Michael F Chiang
Importance: Examinations for retinopathy of prematurity (ROP) are typically performed using binocular indirect ophthalmoscopy. Telemedicine studies have traditionally assessed the accuracy of telemedicine compared with ophthalmoscopy as a criterion standard. However, it is not known whether ophthalmoscopy is truly more accurate than telemedicine. Objective: To directly compare the accuracy and sensitivity of ophthalmoscopy vs telemedicine in diagnosing ROP using a consensus reference standard...
April 5, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29618930/symptoms-associated-with-attention-deficit-hyperactivity-disorder-and-autism-spectrum-disorders-in-school-aged-children-prenatally-exposed-to-substances
#12
Lisbeth Beate Sandtorv, Silje Katrine Elgen Fevang, Sondre Aasen Nilsen, Tormod Bøe, Rolf Gjestad, Siren Haugland, Irene Bircow Elgen
Prenatal exposure to substances may influence a child's neurodevelopment and impact on subsequent mental health. In a hospital-based population of school-aged children prenatally exposed to opiates and a number of illicit substances (n = 57), we evaluated mental health symptoms associated with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) using the Swanson, Nolan, and Pelham Questionnaire, revision IV (SNAP-IV) and the Autism Spectrum Screening Questionnaire (ASSQ) and compared the scores to a reference group which comprised children from the population-based Bergen Child Study (n = 171)...
2018: Substance Abuse: Research and Treatment
https://www.readbyqxmd.com/read/29615299/procedures-for-central-auditory-processing-screening-in-schoolchildren
#13
Nádia Giulian de Carvalho, Thalita Ubiali, Maria Isabel Ramos do Amaral, Maria Francisca Colella Santos
INTRODUCTION: Central auditory processing screening in schoolchildren has led to debates in literature, both regarding the protocol to be used and the importance of actions aimed at prevention and promotion of auditory health. Defining effective screening procedures for central auditory processing is a challenge in Audiology. OBJECTIVE: This study aimed to analyze the scientific research on central auditory processing screening and discuss the effectiveness of the procedures utilized...
March 22, 2018: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29614566/-spectrum-of-mutations-in-benign-familial-neonatal-infantile-epilepsy
#14
Q Zeng, Y H Zhang, X L Yang, L H Pu, J Zhang, A J Liu, Z X Yang, X Y Liu, X R Wu
Objective: To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Methods: Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protoco1. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing, candidate gene mutations were further screened by next-generation sequencing for epilepsy...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29614184/neonatal-abstinence-syndrome-advances-in-diagnosis-and-treatment
#15
Elisha M Wachman, Davida M Schiff, Michael Silverstein
Importance: Neonatal abstinence syndrome, which occurs as a result of in utero opioid exposure, affects between 6.0 and 20 newborns per 1000 live US births. There is substantial variability in how neonatal abstinence syndrome is diagnosed and managed. Objective: To summarize key studies examining the diagnosis and management (both pharmacologic and nonpharmacologic) of neonatal abstinence syndrome published during the past 10 years. Evidence Review: PubMed, Web of Science, and CINAHL were searched for articles published between July 1, 2007, and December 31, 2017...
April 3, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29614095/transfusional-malaria-in-the-neonatal-period-in-lagos-south-west-nigeria
#16
Franca Ogechi Iheonu, Iretiola Bamikeolu Fajolu, Chinyere Veronica Ezeaka, Wellington Aghoghovwia Oyibo
BACKGROUND AND OBJECTIVES: Sick neonates in malaria endemic areas are frequently transfused with donor blood unscreened for malaria parasite. Consequently, they are at risk of transfusional malaria which can lead to increased neonatal mortality. The study aimed to determine the burden of transfusional malaria in neonates to help in policy formulation on prevention of transfusional malaria. MATERIALS AND METHODS: One hundred and sixty four neonates admitted into the neonatal unit of a tertiary hospital over a 10 month period who were scheduled for blood transfusion were screened for malaria parasites pre-transfusion, at three and 14 days post transfusion using Giemsa stained thick and thin films...
2018: PloS One
https://www.readbyqxmd.com/read/29610181/neonatal-alloimmune-thrombocytopenia-with-amegakaryocytosis-b-lymphopenia-and-villitis
#17
Arthur Dony, Annie Buenerd, Corinne Pondarre
Neonatal alloimmune thrombocytopenia (NAIT) is a common but significant challenge for neonatologists and a potentially devastating disease that may lead to intracranial bleeding. The underlying mechanism of thrombocytopenia is expected to be mediated by accelerated clearance of antibody-opsonized fetal platelets. We report severe recurrent NAIT related to human platelet antigen (HPA)-15 systems in 2 consecutive siblings. The first child presented with intracranial hemorrhage at birth and subsequently died. The diagnosis of NAIT, although initially suspected, was ruled out after negative investigation of only HPA-1, HPA-3, and HPA-5 systems...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29609583/risk-factors-for-neonatal-early-onset-group-b-streptococcus-related-diseases-after-the-implementation-of-a-universal-screening-program-in-taiwan
#18
Li-Chen Hung, Pei-Tseng Kung, Tsan-Hung Chiu, Hsun-Pi Su, Ming Ho, Hui-Fen Kao, Li-Ting Chiu, Kuang-Hua Huang, Wen-Chen Tsai
BACKGROUND: We examined the risk for Group B streptococcus (GBS)-related diseases in newborns born to mothers who participated in a universal GBS screening program and to determine whether differences are observed in factors affecting the morbidity for neonatal early-onset GBS-related diseases. METHODS: This is a retrospective study and the study subjects were women who had undergone GBS screening and who gave birth naturally and their newborns between April 15, 2012 and December 31, 2013...
April 2, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29608977/ethnic-differences-in-antepartum-glucose-values-that-predict-postpartum-dysglycemia-and-neonatal-macrosomia
#19
Olubukola Ajala, Constance Chik
BACKGROUND AND OBJECTIVE: Gestational diabetes (GDM) occurs more often in women from certain ethnic groups and is also associated with fetal macrosomia. In this study, we investigated the ability of a gestational diabetes screening test (GDS), the 2hour 75gram-Oral Glucose Tolerance Test (OGTT), and glycated hemoglobin (HbA1c) in predicting postpartum dysglycemia and fetal macrosomia in women of Caucasian, Filipino, Chinese and South-Asian descent. METHODS: 848 women diagnosed with carbohydrate intolerance in pregnancy who completed a 2hour 75g- OGTT within 6 months postpartum, were included in the study...
March 30, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29606026/strategies-for-preventing-early-onset-sepsis-and-for-managing-neonates-at-risk-wide-variability-across-six-western-countries
#20
Alberto Berardi, Cecilia Rossi, Caterina Spada, Giulia Vellani, Isotta Guidotti, Angela Lanzoni, Milena Azzalli, Irene Papa, Chiara Giugno, Laura Lucaccioni
OBJECTIVE: Group B streptococcus (GBS) early-onset sepsis (EOS) has declined after widespread intrapartum antibiotic prophylaxis. However, strategies for preventing EOS may differ across countries. The analysis of their strategies allows to compare the effectiveness of prevention in different countries and suggests opportunities for improvement. METHODS: We compared six western countries. Prevention strategies, incidence rates of EOS and approaches for managing neonates at-risk were analysed...
April 1, 2018: Journal of Maternal-fetal & Neonatal Medicine
keyword
keyword
63790
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"