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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
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
#2
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/28708753/effectiveness-of-preoperative-intranasal-dexmedetomidine-compared-with-oral-midazolam-for-the-prevention-of-emergence-delirium-in-the-pediatric-patient-undergoing-general-anesthesia-a-systematic-review
#3
James FitzSimons, Laura S Bonanno, Stephanie Pierce, Jennifer Badeaux
BACKGROUND: Emergence delirium is defined as a cognitive disturbance during emergence from general anesthesia resulting in hallucinations, delusions and confusion manifested by agitation, restlessness, involuntary physical movement and extreme flailing in bed. Postoperative emergence delirium develops in 12% to 18% of all children undergoing general anesthesia for surgery. This post-anesthetic phenomenon changes cognitive and psychomotor behavior, and puts pediatric patients and health care personnel at risk of injury...
July 2017: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/28702506/prenatal-depression-risk-factors-developmental-effects-and-interventions-a-review
#4
Tiffany Field
This narrative review based on a literature search in PubMed and PsycInfo on the two terms prenatal and antenatal depression includes empirical studies, reviews and meta-analyses that have been published during the last 5 years on risk factors, developmental effects and interventions for prenatal depression. Risk factor studies that met criteria feature demographic measures (lower socioeconomic status, less education, non-marital status, non-employment, less social support and health locus of control, unintended pregnancy, partner violence and history of child abuse) and physiological variables (cortisol, amylase, and pro-inflammatory cytokines and intrauterine artery resistance)...
February 2017: Journal of Pregnancy and Child Health
https://www.readbyqxmd.com/read/28701062/prediction-of-the-requirement-of-open-reduction-for-developmental-dysplasia-of-the-hip
#5
Nabil Alassaf
Objective Closed reduction (CR) is a noninvasive treatment for developmental dysplasia of the hip (DDH), and this treatment is confirmed intraoperatively. This study aimed to develop a preoperative estimation model of the probability of requiring open reduction (OR) for DDH. Methods The study design was cross-sectional by screening all patients younger than 2 years who had attempted CR between October 2012 and July 2016 by a single surgeon. Potential diagnostic determinants were sex, age, side, bilaterality, International Hip Dysplasia Institute (IHDI) grade, and acetabular index (AI)...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28698653/the-association-between-high-fat-diet-around-gestation-and-metabolic-syndrome-related-phenotypes-in-rats-a-systematic-review-and-meta-analysis
#6
Mariana L Tellechea, Melisa F Mensegue, Carlos J Pirola
Numerous rodent studies have evaluated the effects of a maternal high-fat diet (HFD) on later in life susceptibility to Metabolic Syndrome (MetS) with varying results. Our aim was to quantitatively synthesize the available data on effects of maternal HFD around gestation on offspring's body mass, body fat, plasma leptin, glucose, insulin, lipids and systolic blood pressure (SBP). Literature was screened and summary estimates of the effect of maternal HFD on outcomes were calculated by using fixed- or random-effects models...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28697618/evaluation-of-a-zulu-translation-of-the-parents-evaluation-of-developmental-status
#7
Maria Van der Merwe, Marlé Cilliers, Celesté Maré, Jeannie Van der Linde, Mia Le Roux
BACKGROUND: One of the greatest challenges in early communication intervention in South Africa is developing and implementing successful identification strategies in primary health care (PHC). A shortage of trained PHC personnel is one of the barriers to providing adequate health services in South Africa. This dearth of services creates the need to substitute clinician-administered developmental screening tools with parent-administered tools. AIM: To determine the accuracy of the Zulu Parents' Evaluation of Developmental Status (PEDS) in comparison with the outcome of the English PEDS...
June 28, 2017: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/28697590/prevalence-of-fragile-x-syndrome-among-children-receiving-special-education-and-carrier-states-in-first-degree-relatives
#8
B Chandrasekara, S Wijesundera, S S Chong, H N Perera
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children...
June 30, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28695745/treating-autoimmune-disorders-with-venom-derived-peptides
#9
Bingzheng Shen, Zhijian Cao, Wenxin Li, Jean-Marc Sabatier, Yingliang Wu
The effective treatment of autoimmune diseases remains a challenge. Voltage-gated potassium Kv1.3 channels, which are expressed in lymphocytes, are a new therapeutic target for treating autoimmune disease. Consequently, Kv1.3 channel-inhibiting venom-derived peptides are a prospective resource for new drug discovery and clinical application. Area covered: Preclinical and clinical studies have produced a wealth of information on Kv1.3 channel-inhibiting venom-derived peptides, especially from venomous scorpions and sea anemones...
July 11, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28694615/prevalence-of-autism-spectrum-disorder-among-rural-urban-and-tribal-children-1-10-years-of-age
#10
Sunil Kumar Raina, Vishav Chander, Ashok K Bhardwaj, Dinesh Kumar, Seema Sharma, Vipasha Kashyap, Mitasha Singh, Amit Bhardwaj
INTRODUCTION: Studies on autism spectrum disorders (ASDs) have largely focused on children in specific settings. The current scenario of research in ASDs is limited largely to clinic-based case reports, case series, and retrospective chart reviews. The present study is the first population-based prevalence study conducted across rural, urban, and tribal populations in India. MATERIALS AND METHODS: A cross-sectional two-phase study was conducted covering children in the age group of 1-10 years of age across geographical regions representing rural, urban, and tribal populations...
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28694389/are-lower-tsh-cutoffs-in-neonatal-screening-for-congenital-hypothyroidism-warranted-a-debate
#11
Samantha Lain, Caroline Trumpff, Scott D Grosse, Antonella Olivieri, Guy Van Vliet
When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20 to 50 mU/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium, and Italy...
July 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28693630/developmental-competence-of-dromedary-camel-camelus-dromedarius-oocytes-selected-using-brilliant-cresyl-blue-staining
#12
Mohamed Fathi, Mohamed Ashry, Ali Salama, Magdy R Badr
The objectives of the present studies were to investigate the developmental capacity of dromedary camel oocytes selected by brilliant cresyl blue (BCB) staining and to investigate the expression of select transcripts in germinal vesicle (GV) stage oocytes. These transcripts included BMP15 and GDF9 as important transcripts for folliculogenesis and oocyte development, Zar1 and Mater as maternal transcripts required for embryonic development, Cyclin B1 and CDK1 as cell cycle regulators and Oct4 and STAT3 as transcription factors...
July 11, 2017: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/28693014/a-groundbreaking-work-which-laid-the-foundation-for-mass-screening-in-cervical-cytology-in-japan
#13
Robert Y Osamura
This commentary discusses the impact of a milestone article on the accuracy of cervical smears for detecting cancer back in the developmental and transforming era of the cytological detection of atypical and malignant cells. The study served in the establishment of cancer screening in Japan which has contributed greatly in decreasing mortality from cervical cancers.
July 11, 2017: Acta Cytologica
https://www.readbyqxmd.com/read/28691769/automatic-recognition-of-the-xlhed-phenotype-from-facial-images
#14
Smail Hadj-Rabia, Holm Schneider, Elena Navarro, Ophir Klein, Neil Kirby, Kenneth Huttner, Lior Wolf, Melanie Orin, Sigrun Wohlfart, Christine Bodemer, Dorothy K Grange
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. In Phase 2 we investigated how well the technology discriminated affected males cases from female carriers and from individuals with other ectodermal dysplasia syndromes...
July 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28690669/establishment-of-integrated-protocols-for-automated-high-throughput-kinetic-chlorophyll-fluorescence-analyses
#15
Henning Tschiersch, Astrid Junker, Rhonda C Meyer, Thomas Altmann
BACKGROUND: Automated plant phenotyping has been established as a powerful new tool in studying plant growth, development and response to various types of biotic or abiotic stressors. Respective facilities mainly apply non-invasive imaging based methods, which enable the continuous quantification of the dynamics of plant growth and physiology during developmental progression. However, especially for plants of larger size, integrative, automated and high throughput measurements of complex physiological parameters such as photosystem II efficiency determined through kinetic chlorophyll fluorescence analysis remain a challenge...
2017: Plant Methods
https://www.readbyqxmd.com/read/28688809/use-of-the-spot-vision-screener-for-patients-with-developmental-disability
#16
Amanda L Marzolf, M Millicent Peterseim, Blake D Forcina, Carrie Papa, M Edward Wilson, Edward W Cheeseman, Rupal H Trivedi
PURPOSE: To determine whether the Spot Vision Screener effectively detects amblyopia risk factors (ARF) in patients with developmental disability using the 2013 guidelines of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS). METHODS: Children with developmental disability presenting for complete pediatric ophthalmologic examination were prospectively enrolled between June 2012 and March 2016. The following data were analyzed: presence of ARF according to the AAPOS guidelines, refraction, eye alignment, and other ocular pathology...
July 5, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28686861/generation-of-human-hair-cells-in%C3%A2-vitro-is-it-all-about-how-the-wnt-blows
#17
Matthew W Kelley
Screening for small molecules or drugs that can protect or restore mechanosensory hair cells has been hampered by limited cell numbers. In Nature Biotechnology, Koehler et al. (2017) have developed a human organoid-based approach using basic developmental principles to generate large numbers of bonafide hair cells in vitro.
July 6, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28686745/protocols-for-the-delivery-of-small-molecules-to-the-two-spotted-spider-mite-tetranychus-urticae
#18
Takeshi Suzuki, María Urizarna España, Maria Andreia Nunes, Vladimir Zhurov, Wannes Dermauw, Masahiro Osakabe, Thomas Van Leeuwen, Miodrag Grbic, Vojislava Grbic
The two-spotted spider mite, Tetranychus urticae, is a chelicerate herbivore with an extremely wide host range and an extraordinary ability to develop pesticide resistance. Due to its responsiveness to natural and synthetic xenobiotics, the spider mite is becoming a prime pest herbivore model for studies of the evolution of host range, plant-herbivore interactions and mechanisms of xenobiotic resistance. The spider mite genome has been sequenced and its transcriptional responses to developmental and various biotic and abiotic cues have been documented...
2017: PloS One
https://www.readbyqxmd.com/read/28682135/using-zebrafish-as-a-model-to-study-the-role-of-epigenetics-in-hearing-loss
#19
Yingzi He, Beier Bao, Huawei Li
The rapid progress of bioinformatics and high-throughput screening techniques in recent years has led to the identification of many candidate genes and small-molecule drugs that have the potential to make significant contributions to our understanding of the developmental and pathological processes of hearing, but it remains unclear how these genes and regulatory factors are coordinated. Increasing evidence suggests that epigenetic mechanisms are essential for establishing gene expression profiles and likely play an important role in the development of inner ear and in the pathology of hearing-associated diseases...
July 6, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28677529/generation-and-characterization-of-a-human-ipsc-cell-line-expressing-inducible-cas9-in-the-safe-harbor-aavs1-locus
#20
Julio Castaño, Clara Bueno, Senda Jiménez-Delgado, Heleia Roca-Ho, Mario F Fraga, Agustín F Fernandez, Mahito Nakanishi, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Pablo Menéndez
We report the generation-characterization of a fetal liver (FL) B-cell progenitor (BCP)-derived human induced pluripotent stem cell (hiPSC) line CRISPR/Cas9-edited to carry/express a single copy of doxycycline-inducible Cas9 gene in the "safe locus" AAVS1 (iCas9-FL-BCP-hiPSC). Gene-edited iPSCs remained pluripotent after CRISPR/Cas9 genome-edition. Correct genomic integration of a unique copy of Cas9 was confirmed by PCR and Southern blot. Cas9 was robustly and specifically expressed on doxycycline exposure...
May 2017: Stem Cell Research
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