keyword
MENU ▼
Read by QxMD icon Read
search

developmental delays

keyword
https://www.readbyqxmd.com/read/28551578/toxicity-of-organic-uv-filters-to-the-aquatic-midge-chironomus-riparius
#1
Diana Campos, Carlos Gravato, Carla Quintaneiro, Oksana Golovko, Vladimír Žlábek, Amadeu M V M Soares, João L T Pestana
Despite the frequent detection of organic ultraviolet-filters (UV-filters) in freshwater sediments, there is a lack of ecotoxicological data undermining a correct risk assessment for these emerging contaminants. The present study assessed the effects of three of the most commonly used UV-filters (benzophenone-3 - BP3; 3-(4-methylbenzylidene)camphor - 4-MBC and octocrylene - OC) on Chironomus riparius life history and biochemical responses. Standard ecotoxicological assays confirmed that all compounds impaired growth of C...
May 25, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28549652/the-fault-in-their-stars-accumulating-astrocytic-inclusions-associated-with-clusters-of-epileptic-spasms-in-children-with-global-developmental-delay
#2
Robyn Whitney, Sameer AlMehmadi, Bláthnaid McCoy, Ivanna Yau, Ayako Ochi, Hiroshi Otsubo, Shelly K Weiss, James Rutka, Lili-Naz Hazrati, O Carter Snead, Cristina Go
BACKGROUND: The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay. METHODS: We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28549523/-anesthetic-management-of-a-patient-with-15q-tetrasomy-for-dental-treatment
#3
Yuri Hase, Nobuhito Kemekura, Yukie Nitta, Toshiaki Fujisawa
BACKGROUND AND OBJECTIVES: 15q tetrasomy is a chromosomal abnormality that is a part of the heterogeneous group of extra structurally abnormal chromosomes. This syndrome is characterized by epilepsy, central hypotonia, developmental delay and intellectual disability, and autistic behavior. This is the first report of the anesthetic management of a patient with this syndrome. CASE REPORT: We administered general anesthesia for dental treatment in a patient with 15q tetrasomy...
May 23, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#4
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546662/pregnancy-outcome-in-patients-with-solitary-kidney
#5
Vineet V Mishra, Kavita M Mistry, Sakshi S Nanda, Sumesh Choudhary, Rohina Aggarwal, Khushali Gandhi
BACKGROUND: Solitary kidney may be congenital or as a result of nephrectomy. There is a lot of literature available on quality of life in these patients, but there is limited data on pregnancy outcome. OBJECTIVES: To study pregnancy outcome in patients with solitary kidney either congenital or due to nephrectomy. MATERIALS AND METHODS: Study Design This is a retrospective observational study conducted at tertiary health center in Ahmedabad, from 2011 to 2014...
June 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28545306/developmental-potential-of-embryos-from-cycles-containing-oocytes-with-severe-ovoid-zona-pellucida
#6
Shun Xiong, Wei Han, Weiwei Liu, Lihong Wu, Jun Xia Liu, Yang Gao, Guoning Huang
The purpose of this study was to determine the incidence of oocytes with severe ovoid zona pellucida (ZP), investigate the development potential of their sibling oocytes and the clinical outcomes from affected cycles. The data were collected from our medical records. Cycles having at least one oocyte with severe ovoid ZP were defined as the 'severe ovoid group', cycles having at least one oocyte with mild ovoid ZP were defined as the 'mild ovoid group', whereas cycles without oocytes with ovoid ZPs were defined as the 'control group' (n = 150 for each group)...
May 26, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28544517/fetoscopic-laser-photocoagulation-for-amniotic-fluid-discordance-bordering-on-twin-twin-transfusion-syndrome-feasibility-perinatal-and-long-term-outcomes
#7
Katsusuke Ozawa, Rika Sugibayashi, Seiji Wada, Masahiro Sumie, Keisuke Ishii, Masahiko Nakata, Takeshi Murakoshi, Yushi Ito, Haruhiko Sago
AIM: This study investigated the feasibility and safety of fetoscopic laser photocoagulation (FLP) for amniotic fluid discordance (AFD) bordering on twin-twin transfusion syndrome (TTTS) with an absent or reverse end-diastolic velocity (AREDV) in the umbilical artery (UA), and evaluated the perinatal and long-term outcomes. METHODS: A prospective intervention study was performed between 20 + 0 and 25 + 6 weeks of gestation (UMIN000004165). AFD bordering on TTTS was defined as maximum vertical pocket (MVP) of amniotic fluid in one twin's sac ≤3 cm and amniotic fluid MVP in the other twin's sac ≥7 cm excluding TTTS...
May 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#8
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544009/a-cluster-randomised-controlled-trial-evaluating-the-effects-of-delaying-onset-of-adolescent-substance-abuse-on-cognitive-development-and-addiction-following-a-selective-personality-targeted-intervention-program-the-co-venture-trial
#9
Maeve O'Leary-Barrett, Benoit Mâsse, Robert Pihl, Sherry Stewart, Jean R Séguin, Patricia Conrod
AIMS: Substance use and binge drinking during early adolescence are associated with neurocognitive abnormalities, mental health problems and an increased risk for future addiction. The trial aims to evaluate the protective effects of an evidence-based substance use prevention program on the onset of alcohol and drug use in adolescence, as well as on cognitive, mental health and addiction outcomes over 5 years. DESIGN: Thirty-eight high schools will be recruited, with a final sample of 31 schools assigned to intervention or control conditions (approximately 3800 youth)...
May 21, 2017: Addiction
https://www.readbyqxmd.com/read/28542865/disruption-of-ywhae-gene-at-17p13-3-causes-learning-disabilities-and-brain-abnormalities
#10
Abdul Noor, Simina Bogatan, Nicholas Watkins, Wendy S Meschino, Dimitri J Stavropoulos
There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent features is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to it, results in Miller-Dieker syndrome, however there have been many reports of patients with haploinsufficiency of the distal genes alone. The deletions of these genes including YWHAE, CRK and TUSC5 have been studied extensively and YWHAE has been postulated to be the cause of neurological abnormalities...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542722/a-homozygous-potentially-pathogenic-variant-in-the-paxbp1-gene-in-a-large-family-with-global-developmental-delay-and-myopathic-hypotonia
#11
Essa Alharby, Alia M Albalawi, Abdul Nasir, Sabri A Alhijji, Amer Mahmood, Khushnooda Ramzan, Firoz Abdusamad, Abdulkarim Aljohani, Osama Abdelsalam, Amr Eldardear, Sulman Basit
PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery. PAXBP1 is a nuclear protein and its high expression is known in brain cerebellar hemisphere and cerebellum. Moreover, it is also found in abundance in muscle precursor cells that are involved in myogenesis and skeletal muscles formation. Whole genome SNP genotyping and exome sequencing in a family with distinct syndrome of global developmental delay and hypotonia mapped the disease locus to the chromosome 21q22...
May 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28540636/gm2-activator-deficiency-caused-by-a-homozygous-exon-2-deletion-in-gm2a
#12
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot, Hart G W Lidov, Irina Anselm
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination...
May 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#13
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28539509/fin-fold-development-in-paddlefish-and-catshark-and-implications-for-the-evolution-of-the-autopod
#14
Frank J Tulenko, James L Massey, Elishka Holmquist, Gabriel Kigundu, Sarah Thomas, Susan M E Smith, Sylvie Mazan, Marcus C Davis
The evolutionary origin of the autopod involved a loss of the fin-fold and associated dermal skeleton with a concomitant elaboration of the distal endoskeleton to form a wrist and digits. Developmental studies, primarily from teleosts and amniotes, suggest a model for appendage evolution in which a delay in the AER-to-fin-fold conversion fuelled endoskeletal expansion by prolonging the function of AER-mediated regulatory networks. Here, we characterize aspects of paired fin development in the paddlefish Polyodon spathula (a non-teleost actinopterygian) and catshark Scyliorhinus canicula (chondrichthyan) to explore aspects of this model in a broader phylogenetic context...
May 31, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28539430/physiologic-thymic-involution-underlies-age-dependent-accumulation-of-senescence-associated-cd4-t-cells
#15
Kyosuke Sato, Aiko Kato, Miho Sekai, Yoko Hamazaki, Nagahiro Minato
Immune aging may underlie various aging-related disorders, including diminished resistance to infection, chronic inflammatory disorders, and autoimmunity. PD-1(+) and CD153(+) CD44(high) CD4(+) T cells with features of cellular senescence, termed senescence-associated T (SA-T) cells, increasingly accumulate with age and may play a role in the immune aging phenotype. In this article, we demonstrate that, compared with young mice, the aged mouse environment is highly permissive for spontaneous proliferation of transferred naive CD4(+) T cells, and it drives their transition to PD-1(+) and CD153(+) CD44(high) CD4(+) T cells after extensive cell divisions...
May 24, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28538323/the-effect-of-a-psychomotor-education-program-on-the-static-balance-of-children-with-intellectual-disability
#16
Eleni G Fotiadou, Konstantina H Neofotistou, Paraskevi F Giagazoglou, Vasilios K Tsimaras
Fotiadou, EG, Neofotistou, KH, Giagazoglou, PF, and Tsimaras, VK. The effect of a psychomotor education program on the static balance of children with intellectual disability. J Strength Cond Res 31(6): 1702-1708, 2017-Children with intellectual disability (ID) demonstrate lower balance ability which results in substantial delays in motor growth and limits their function level. Psychomotor education comprises a holistic movement approach, with the aim to improve all aspects of each child personality. The aim of this study was to assess the effect of a psychomotor education program on static balance of school-aged children with ID...
June 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28538042/counterbalanced-comparison-of-the-bsid-ii-and-bayley-iii-at-eighteen-to-twenty-two-months-corrected-age
#17
Meghan Sharp, Sara B DeMauro
OBJECTIVE: To evaluate differences in developmental assessments using the current version of the Bayley Scales of Infant Development (Bayley-III) as compared to the older BSID-II. Previous studies suggest that average scores on the Bayley-III may be significantly higher than scores on the previous version, but the magnitude and potential impact of differences between these 2 assessments are uncertain. METHODS: We enrolled 77 former preterm infants (born <32 wk gestation and ≤2000 g) at 18 to 22 months corrected age in this randomized crossover study...
May 19, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28537576/an-infant-and-mother-with-severe-b12-deficiency-vitamin-b12-status-assessment-should-be-determined-in-pregnant-women-with-anaemia
#18
A Sobczyńska-Malefora, R Ramachandran, D Cregeen, E Green, P Bennett, D J Harrington, H A Lemonde
The vitamin B12 status of infants depends on maternal B12 status during pregnancy, and during lactation if breastfed. We present a 9-month-old girl who was admitted to the metabolic unit for assessment of developmental delay. She was exclusively breastfed and the introduction of solids at 5 months was unsuccessful. Investigations revealed pancytopenia, undetectable B12 and highly elevated methylmalonic acid and homocysteine. Methylmalonic acid and homocysteine normalised following B12 injections. Marked catch-up of developmental milestones was noted after treatment with B12...
May 24, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28536099/repression-of-mir156-by-mir159-regulates-the-timing-of-the-juvenile-to-adult-transition-in-arabidopsis
#19
Changkui Guo, Yunmin Xu, Min Shi, Yongmin Lai, Xi Wu, Huasen Wang, Zhujun Zhu, R Scott Poethig, Gang Wu
Temporally-regulated miRNAs have been identified as master regulators of developmental timing in both animals and plants. In plants, vegetative development is regulated by a temporal decrease in miR156 level, but how this decreased expression is initiated and then maintained during shoot development remains elusive. Here we show that miR159 is required for the correct timing of vegetative development in Arabidopsis thaliana. Loss of miR159 increases miR156 level throughout shoot development and delays vegetative development, whereas overexpression of miR159 slightly accelerated vegetative development...
May 23, 2017: Plant Cell
https://www.readbyqxmd.com/read/28533409/inducible-ctcf-insulator-delays-the-igh-3-regulatory-region-mediated-activation-of-germline-promoters-and-alters-class-switching
#20
Fatima-Zohra Braikia, Chloé Oudinet, Dania Haddad, Zeliha Oruc, Domenico Orlando, Audrey Dauba, Marc Le Bert, Ahmed Amine Khamlichi
Class switch recombination (CSR) plays an important role in adaptive immune response by enabling mature B cells to switch from IgM expression to the expression of downstream isotypes. CSR is preceded by inducible germline (GL) transcription of the constant genes and is controlled by the 3' regulatory region (3'RR) in a stimulus-dependent manner. Why the 3'RR-mediated up-regulation of GL transcription is delayed to the mature B-cell stage is presently unknown. Here we show that mice devoid of an inducible CTCF binding element, located in the α constant gene, display a marked isotype-specific increase of GL transcription in developing and resting splenic B cells and altered CSR in activated B cells...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
keyword
keyword
7431
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"