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https://www.readbyqxmd.com/read/28088106/uv-a-induced-delayed-development-in-the-larvae-of-coral-seriatopora-caliendrum
#1
Jie Zhou, Tung-Yung Fan, John Beardall, Kunshan Gao
Coral reefs are vulnerable to ultraviolet radiation (UVR, 280-400nm). Not only do the fluxes of UVR fluctuate daily, they are also increasing due to global ocean and atmospheric changes. The deleterious effects of UVR on scleractinian corals have been intensively studied, but much less is known about the response of corals in the early pre-settlement phase. In this study, we tested how UVR exposure affects survival and development of Seriatopora caliendrum larvae and examined the photophysiological changes induced in the symbiotic dinoflagellate Symbiodinium...
January 4, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28087968/thymic-carcinoma-presenting-with-an-unusual-and-delayed-metastasis-to-the-neural-foramen-mimicking-thoracic-spinal-radiculopathy
#2
H M Low, C F Wong, M W H'ng
We report a case of metastatic thymic carcinoma which presented as an enhancing mass located in the neural foramen of the thoracic spine. More common tumours which arise in the neural foramen would include a neurogenic tumour or developmental anomalies such as a foregut duplication cyst. This case is singular firstly because the lesion present as radiculopathy which mimics a neurogenic tumour. Secondly, the presentation was unusually delayed as the patient presented to our centre more than a decade after the resection of the primary tumour in another institution...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#3
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#4
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28081516/autism-does-not-limit-strategic-thinking-in-the-beauty-contest-game
#5
Peter C Pantelis, Daniel P Kennedy
A popular hypothesis in developmental psychology is that individuals with autism spectrum disorder (ASD) have a specific impairment or developmental delay in their ability to reason about other people's mental processes, especially when this reasoning process is of a higher-order, recursive, or nested variety. One type of interpersonal interaction that involves this sort of complex reasoning about others' minds is an economic game, and because economic games have been extensively modeled in behavioral economics, they provide a unique testbed for a quantitative and precise analysis of cognitive functioning in ASD...
January 9, 2017: Cognition
https://www.readbyqxmd.com/read/28077841/pars2-and-nars2-mutations-in-infantile-onset-neurodegenerative-disorder
#6
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#7
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28075028/a-recognizable-type-of-syndromic-short-stature-with-arthrogryposis-caused-by-bi-allelic-sema3a-loss-of-function-variants
#8
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Thomas Müller, Andreas R Janecke
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8-year-old boy with the same pattern of MCA...
January 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28071977/effect-of-touch-screen-tablet-use-on-fine-motor-development-of-young-children
#9
Ling-Yi Lin, Rong-Ju Cherng, Yung-Jung Chen
AIM: To investigate the effects of touch-screen tablet use on the fine motor development of preschool children without developmental delay. METHODS: 40 children who used a touch-screen tablet more 60 minutes per week for at least 1 month received a 24-week home fine motor activity program using a touch-screen-tablet. 40 children matched for age (mean = 61.0 months) and sex who did not meet the criteria for previous tablet use received a 24-week program consisting of manual play activities...
January 10, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28069923/map7-regulates-axon-collateral-branch-development-in-dorsal-root-ganglia-neurons
#10
Stephen R Tymanskyj, Benjamin Yang, Aditi Falnikar, Angelo C Lepore, Le Ma
: Collateral branches from axons are key components of functional neural circuits that allow neurons to connect with multiple synaptic targets. Like axon growth and guidance, formation of collateral branches depends on the regulation of microtubules, but how such regulation is coordinated to ensure proper circuit development is not known. Based on microarray analysis, we have identified a role for microtubule-associated protein 7 (MAP7) during collateral branch development of dorsal root ganglia (DRG) sensory neurons...
January 9, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28069803/ig-light-chain-precedes-heavy-chain-gene-rearrangement-during-development-of-b-cells-in-swine
#11
Marek Sinkora, Jana Sinkorova, Katerina Stepanova
The current mammalian paradigm states that 1) rearrangements in the IgH locus precede those in IgL loci, 2) IgLλ genes rearrange only when IgLκ genes are consumed, and 3) the surrogate L chain is necessary for selection of productive IgH gene rearrangements. We show in swine that IgL rearrangements precede IgH gene rearrangements, resulting in the expression of naked IgL on a surface of precursor B cells. Findings also suggest that there is no dependency on the surrogate L chain, and thus the authentic IgL proteins may be used for selection of the IgH repertoire...
January 9, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28068357/role-of-bmdredd-during-apoptosis-of-silk-gland-in-silkworm-bombyx-mori
#12
Rui-Ting Chen, Peng Jiao, Zhen Liu, Yan Lu, Hu-Hu Xin, Deng-Pan Zhang, Yun-Gen Miao
Silk glands (SGs) undergo massive apoptosis driven degeneration during the larval-pupal transformation. To better understand this event on molecular level, we investigated the expression of apoptosis-related genes across the developmental transition period that spans day 4 in the fifth instar Bombyx mori larvae to day 2 pupae. Increases in the expression of BmDredd (an initiator caspase homolog) closely followed the highest BmEcR expression and resembled the expression trend of BmIcE. Simultaneously, we found that BmDredd expression was significantly higher in SG compared to other tissues at 18 h post-spinning, but reduced following injection of the apoptosis inhibitor (Z-DEVD-fmk)...
2017: PloS One
https://www.readbyqxmd.com/read/28067313/redundant-functions-of-i-bar-family-members-irsp53-and-irtks-are-essential-for-embryonic-development
#13
Ai Mei Chou, Kai Ping Sem, Wei Jun Lam, Sohail Ahmed, Chin Yan Lim
The insulin receptor substrate of 53 kDa, IRSp53, is an adaptor protein that works with activated GTPases, Cdc42 and Rac, to modulate actin dynamics and generate membrane protrusions in response to cell signaling. Adult mice that lack IRSp53 fail to regulate synaptic plasticity and exhibit hippocampus-associated learning deficiencies. Here, we show that 60% of IRSp53 null embryos die at mid to late gestation, indicating a vital IRSp53 function in embryonic development. We find that IRSp53 KO embryos displayed pleiotropic phenotypes such as developmental delay, oligodactyly and subcutaneous edema, and died of severely impaired cardiac and placental development...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28064527/child-violence-experiences-in-institutionalised-orphanage-care
#14
Lorraine Sherr, Kathryn J Roberts, Natasha Gandhi
Institutions are not necessarily good environments for children. In the face of challenges such as HIV, Ebola, poverty, conflict and disaster the numbers have grown rather than reduced. Some countries have closed institutions down -driven by findings that cognitive developmental delay is associated with institutional care. Yet insight into abuse and violence within institutionalised settings is neglected. Maltreatment -violence and abuse -may be an issue. This systematic review series addresses violence and abuse experiences in institutionalised care, exploring firstly the frequency of abuse/violence in institutions, secondly any interventions to reduce such violence or abuse and thirdly the perpetrators of such violence or abuse...
January 9, 2017: Psychology, Health & Medicine
https://www.readbyqxmd.com/read/28064333/neurological-expression-of-an-inherited-translocation-of-chromosomal-1-and-7
#15
Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabarki
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28061816/major-cys-protease-activities-are-not-essential-for-senescence-in-individually-darkened-arabidopsis-leaves
#16
Adriana Pružinská, Takayuki Shindo, Sherry Niessen, Farnusch Kaschani, Réka Tóth, A Harvey Millar, Renier A L van der Hoorn
BACKGROUND: Papain-like Cys Proteases (PLCPs) and Vacuolar Processing Enzymes (VPEs) are amongst the most highly expressed proteases during leaf senescence in Arabidopsis. Using activity-based protein profiling (ABPP), a method that enables detection of active enzymes within a complex sample using chemical probes, the activities of PLCPs and VPEs were investigated in individually darkened leaves of Arabidopsis, and their role in senescence was tested in null mutants. RESULTS: ABPP and mass spectrometry revealed an increased activity of several PLCPs, particularly RD21A and AALP...
January 6, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28061376/visual-orienting-and-attention-deficits-in-5-and-10-month-old-preterm-infants
#17
Shannon Ross-Sheehy, Sammy Perone, Kelsi L Macek, Bret Eschman
Cognitive outcomes for children born prematurely are well characterized, including increased risk for deficits in memory, attention, processing speed, and executive function. However, little is known about deficits that appear within the first 12 months, and how these early deficits contribute to later outcomes. To probe for functional deficits in visual attention, preterm and full-term infants were tested at 5 and 10 months with the Infant Orienting With Attention task (IOWA; Ross-Sheehy, Schneegans and Spencer, 2015)...
January 3, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#18
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28057895/gibberellin-signaling-requires-chromatin-remodeler-pickle-to-promote-vegetative-growth-and-phase-transitions
#19
Jeongmoo Park, Dong-Ha Oh, Maheshi Dassanayake, Khoa Thi Nguyen, Joe Ogas, Giltsu Choi, Tai-Ping Sun
PICKLE (PKL) is an ATP-dependent Chromodomain-Helicase-DNA-binding domain (CHD3) chromatin remodeling enzyme in Arabidopsis thaliana. Previous studies showed that PKL promotes embryonic-to-vegetative transition by inhibiting expression of seed-specific genes during seed germination. The pkl mutants display a low penetrance of the 'pickle root' phenotype with a thick and green primary root that retains embryonic characteristics. The penetrance of this pickle root phenotype in pkl is dramatically increased in GA-deficient conditions...
January 5, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28054804/developmental-delay-and-emotion-dysregulation-predicting-parent-child-conflict-across-early-to-middle-childhood
#20
Willa A Marquis, Amanda N Noroña, Bruce L Baker
Cumulative risk research has increased understanding of how multiple risk factors impact various socioemotional and interpersonal outcomes across the life span. However, little is known about risk factors for parent-child conflict early in development, where identifying predictors of change could be highly salient for intervention. Given their established association with parent-child conflict, child developmental delay (DD) and emotion dysregulation were examined as predictors of change in conflict across early to middle childhood (ages 3 to 7 years)...
January 5, 2017: Journal of Family Psychology: JFP
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