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https://www.readbyqxmd.com/read/28937887/characteristics-and-associated-comorbidities-of-pediatric-dental-patients-treated-under-general-anesthesia
#1
Alexandra Delfiner, Aaron Myers, Christie Lumsden, Steve Chussid, Richard Yoon
OBJECTIVE: To describe characteristics and identify common comorbidities of children receiving dental treatment under general anesthesia at Children's Hospital of New York-Presbyterian. STUDY DESIGN: Electronic medical records of all children that received dental treatment under general anesthesia through the Division of Pediatric Dentistry from 2012-2014 were reviewed. Data describing patient characteristics (age, sex, race/ethnicity, insurance carrier, and American Society of Anesthesiologists physical status classification system), medical history, and justification for treatment were collected...
September 22, 2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28937389/incontinentia-pigmenti-an-x-linked-dominant-disorder-in-a-2-year-old-boy-with-klinefelter-syndrome
#2
Abhilasha Williams, Laxmisha Chandrashekar, Vivi M Srivastava, Meera Thomas, Saban Horo, Renu George
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present. While intelligence is generally normal, varied degrees of intellectual disability/developmental delay have been reported...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28937316/age-dependent-responses-of-brain-myelin-integrity-and-behavioral-performance-to-radiation-in-mice
#3
Zhimeng Fu, Yunfei Zhao, Kaixiang Zhang, Jian Wang, Min Zhang, Xianghui Zhao
Radiation therapy is widely used to treat primary and metastatic brain tumors, but it may also lead to delayed neurological complications. Oligodendrocytes in the central nervous system produce myelin, and myelin integrity becomes highly vulnerable after brain irradiation. In this study, mice at different developmental stages were used to test the age-dependent sensitivity of myelin formation and maintenance, as well as behavioral performance after whole-brain irradiation (WBI). Mice at postnatal days 21 and 28 and at 2 months received a single dose of 25 Gy WBI...
September 22, 2017: Radiation Research
https://www.readbyqxmd.com/read/28937085/galloway-mowat-syndrome-unusual-form-of-nephrotic-syndrome-in-adolescent
#4
G Diwakar Naidu, Pathapati Deepthi, K RajaKarthik, S Sriram, G Swarnalatha, T Gangadhar
Galloway-Mowat syndrome (GMS), also acknowledged as Microcephaly-Hiatal hernia nephrotic syndrome, is an uncommon genetic disorder inherited as an autosomal recessive trait usually seen before two years of life. It is an exceptional multisystem genetic disorder with a collection of skeletal, neurological, facial, gastrointestinal, growth, and renal abnormalities. This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28935972/chromosomal-microarray-analysis-in-a-cohort-of-underrepresented-population-identifies-serinc2-as-a-novel-candidate-gene-for-autism-spectrum-disorder
#5
Areerat Hnoonual, Weerin Thammachote, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Tippawan Hansakunachai, Tasanawat Sombuntham, Rawiwan Roongpraiwan, Juthamas Worachotekamjorn, Jariya Chuthapisith, Suthat Fucharoen, Duangrurdee Wattanasirichaigoon, Nichara Ruangdaraganon, Pornprot Limprasert, Natini Jinawath
Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28933790/is-it-time-to-retire-fragile-x-testing-as-a-first-tier-test-for-developmental-delay-intellectual-disability-and-autism-spectrum-disorder
#6
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katrina Dipple, Eric Vilain, Derek A Wong, Joshua L Deignan, Stephen D Cederbaum, Wayne W Grody, Julian A Martinez-Agosto
No abstract text is available yet for this article.
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28933588/death-by-over-eating-the-gaucher-disease-associated-gene-gba1-identified-in-a-screen-for-mediators-of-autophagic-cell-death-is-necessary-for-developmental-cell-death-in-drosophila-midgut
#7
Santosh K Dasari, Eyal Schejter, Shani Bialik, Aya Shkedy, Vered Levin-Salomon, Smadar Levin-Zaidman, Adi Kimchi
Autophagy is critical for homeostasis and cell survival during stress, but can also lead to cell death, a little understood process that has been shown to contribute to developmental cell death in lower model organisms, and to human cancer cell death. We recently reported (1) on our thorough molecular and morphologic characterization of an autophagic cell death system involving resveratrol treatment of lung carcinoma cells. To gain mechanistic insight into this death program, we performed a signalome-wide RNAi screen for genes whose functions are necessary for resveratrol-induced death...
September 21, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28932956/time-lapse-imaging-provides-further-evidence-that-planar-arrangement-of-blastomeres-is-highly-abnormal
#8
Thomas Ebner, Alexandra Höggerl, Peter Oppelt, Elisabeth Radler, Simon-Hermann Enzelsberger, Richard B Mayer, Erwin Petek, Omar Shebl
PURPOSE: Recently, guidelines on the annotation of dynamic human embryo monitoring recommended screening for the presence of planar blastomere arrangement at the 4-cell stage. This observational study was set up in order to analyze whether developmental kinetics of planar human embryos are different from tetrahedral ones. METHODS: Therefore, embryos of 115 consecutive ICSI patients (showing 32 planar and 554 tetrahedral embryos) were cultured in a new time-lapse system (Miri TL) and their embryos were annotated for morphokinetic development and screened for irregular cleavages and morphological dysmorphisms...
September 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#9
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/28930814/neurologic-and-functional-morbidity-in-critically-ill-children-with-bronchiolitis
#10
Steven L Shein, Katherine N Slain, Jason A Clayton, Bryan McKee, Alexandre T Rotta, Deanne Wilson-Costello
OBJECTIVES: Neurologic and functional morbidity occurs in ~30% of PICU survivors, and young children may be at particular risk. Bronchiolitis is a common indication for PICU admission among children less than 2 years old. Two single-center studies suggest that greater than 10-25% of critical bronchiolitis survivors have neurologic and functional morbidity but those estimates are 20 years old. We aimed to estimate the burden of neurologic and functional morbidity among more recent bronchiolitis patients using two large, multicenter databases...
September 19, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28929093/the-elevated-rate-of-cesarean-section-and-its-contribution-to-non-communicable-chronic-diseases-in-latin-america-the-growing-involvement-of-the-microbiota
#11
REVIEW
Fabien Magne, Alexa Puchi Silva, Bielka Carvajal, Martin Gotteland
The current recommendation of the World Health Organization (WHO) regarding cesarean section (C-section) is that this clinical practice should be carried out only under specific conditions, when the health or life of the mother/newborn dyad is threatened, and that its use should not exceed 10-15% of the total deliveries. However, over the last few decades, the frequency of C-section delivery in medium- and high-income countries has rapidly increased worldwide. This review describes the evolution of this procedure in Latin American countries, showing that today more than half of newborns in the region are delivered by C-section...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28928762/novel-protein-protein-inhibitor-based-approach-to-control-plant-ethylene-responses-synthetic-peptides-for-ripening-control
#12
Mareike Kessenbrock, Simone M Klein, Lena Müller, Mauricio Hunsche, Georg Noga, Georg Groth
Ethylene signaling is decisive for many plant developmental processes. Among these, control of senescence, abscission and fruit ripening are of fundamental relevance for global agriculture. Consequently, detailed knowledge of the signaling network along with the molecular processes of signal perception and transfer are expected to have high impact on future food production and agriculture. Recent advances in ethylene research have demonstrated that signaling of the plant hormone critically depends on the interaction of the ethylene receptor family with the NRAMP-like membrane protein ETHYLENE INSENSITIVE 2 (EIN2) at the ER membrane, phosphorylation-dependent proteolytic processing of ER-localized EIN2 and subsequent translocation of the cleaved EIN2 C-terminal polypeptide (EIN2-CEND) to the nucleus...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28926587/functional-characterization-of-zebrafish-orthologs-of-the-human-beta-3-glucosyltransferase-b3glct-gene-mutated-in-peters-plus-syndrome
#13
Eric Weh, Hideyuki Takeuchi, Sanaa Muheisen, Robert S Haltiwanger, Elena V Semina
Peters Plus Syndrome (PPS) is a rare autosomal recessive disease characterized by ocular defects, short stature, brachydactyly, characteristic facial features, developmental delay and other highly variable systemic defects. Classic PPS is caused by loss-of-function mutations in the B3GLCT gene encoding for a β3-glucosyltransferase that catalyzes the attachment of glucose via a β1-3 glycosidic linkage to O-linked fucose on thrombospondin type 1 repeats (TSRs). B3GLCT was shown to participate in a non-canonical ER quality control mechanism; however, the exact molecular processes affected in PPS are not well understood...
2017: PloS One
https://www.readbyqxmd.com/read/28924535/benign-pathogenic-and-copy-number-variations-of-unknown-clinical-significance-in-patients-with-congenital-malformations-and-developmental-delay
#14
M Mihaylova, R Staneva, D Toncheva, M Pancheva, S Hadjidekova
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924292/hemimegalencephaly-with-intractable-epilepsy-a-case-report
#15
Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat, Fazal Manzoor Arain
Isolated Hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development.It is characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, mental retardation, developmental delay, contralateral hemiparesis and hemianopia. The patient was a five and half month's old baby girl who presented first with focal seizures at 10th day of life. No other physical or behavioral abnormality was noted. However, Initial EEG showed excessive sharp EEG transients more over the right hemisphere, repeated EEG showed spikes, polyspikes, sharps and slow wave discharges predominately over right hemisphere...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924182/an-in-vitro-model-of-lissencephaly-expanding-the-role-of-dcx-during-neurogenesis
#16
M Shahsavani, R J Pronk, R Falk, M Lam, M Moslem, S B Linker, J Salma, K Day, J Schuster, B-M Anderlid, N Dahl, F H Gage, A Falk
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe neurological impairment and developmental delay. Mutations in the X-chromosomal gene DCX, encoding doublecortin, is the main cause of classical lissencephaly. Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28922424/deletion-of-the-rodent-malaria-ortholog-for-falcipain-1-highlights-differences-between-hepatic-and-blood-stage-merozoites
#17
Christine S Hopp, Brandy L Bennett, Satish Mishra, Christine Lehmann, Kirsten K Hanson, Jing-Wen Lin, Kimberly Rousseau, Filomena A Carvalho, Wouter A van der Linden, Nuno C Santos, Matthew Bogyo, Shahid M Khan, Volker Heussler, Photini Sinnis
Proteases have been implicated in a variety of developmental processes during the malaria parasite lifecycle. In particular, invasion and egress of the parasite from the infected hepatocyte and erythrocyte, critically depend on protease activity. Although falcipain-1 was the first cysteine protease to be characterized in P. falciparum, its role in the lifecycle of the parasite has been the subject of some controversy. While an inhibitor of falcipain-1 blocked erythrocyte invasion by merozoites, two independent studies showed that falcipain-1 disruption did not affect growth of blood stage parasites...
September 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28922419/global-services-and-support-for-children-with-developmental-delays-and-disabilities-bridging-research-and-policy-gaps
#18
Pamela Y Collins, Beverly Pringle, Charlee Alexander, Gary L Darmstadt, Jody Heymann, Gillian Huebner, Vesna Kutlesic, Cheryl Polk, Lorraine Sherr, Andy Shih, Dragana Sretenov, Mariana Zindel
Pamela Collins and colleagues explain the research and policy approaches needed globally to ensure children with developmental delays and disabilities are fully included in health and education services.
September 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28920961/germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control
#19
Federico Tessadori, Jacques C Giltay, Jane A Hurst, Maarten P Massink, Karen Duran, Harmjan R Vos, Robert M van Es, Richard H Scott, Koen L I van Gassen, Jeroen Bakkers, Gijs van Haaften
Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis. More recently, modifications affecting the globular histone core have been uncovered as being crucial for DNA repair, pluripotency and oncogenesis...
September 18, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28919924/comparison-of-parent-report-and-direct-assessment-of-child-skills-in-toddlers
#20
Lauren E Miller, Kayla A Perkins, Yael G Dai, Deborah A Fein
BACKGROUND: There are unique challenges associated with measuring development in early childhood. Two primary sources of information are used: parent report and direct assessment. Each approach has strengths and weaknesses, particularly when used to identify and diagnose developmental delays. The present study aimed to evaluate consistency between parent report and direct assessment of child skills in toddlers with and without Autism Spectrum Disorder (ASD) across receptive language, expressive language, and fine motor domains...
September 2017: Research in Autism Spectrum Disorders
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