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Developmental Medicine

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https://www.readbyqxmd.com/read/29790872/genomic-sequencing-identifies-secondary-findings-in-a-cohort-of-parent-study-participants
#1
Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James M J Lawlor, Whitley V Kelley, Edward J Lose, Carla A Rich, Shirley Simmons, Shawn E Levy, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
PurposeClinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.MethodsExome/genome sequencing and analysis of 789 "unaffected" parents was performed.ResultsPathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7)...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29788979/marcks-and-marcks-like-proteins-in-development-and-regeneration
#2
REVIEW
Mohamed El Amri, Una Fitzgerald, Gerhard Schlosser
BACKGROUND: The Myristoylated Alanine-Rich C-kinase Substrate (MARCKS) and MARCKS-like protein 1 (MARCKSL1) have a wide range of functions, ranging from roles in embryonic development to adult brain plasticity and the inflammatory response. Recently, both proteins have also been identified as important players in regeneration. Upon phosphorylation by protein kinase C (PKC) or calcium-dependent calmodulin-binding, MARCKS and MARCKSL1 translocate from the membrane into the cytosol, modulating cytoskeletal actin dynamics and vesicular trafficking and activating various signal transduction pathways...
May 22, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29788537/ten-years-of-medical-education-registrars-value-added
#3
Victoria Brazil, Lorna Davin
OBJECTIVE: There is a paucity of any long-term follow up of trainees' career pathways or organisational outcomes from medical education registrar posts in emergency medicine training. We report on the experience of a selected group of medical education trainees during and subsequent to their post and reflect on the value added to emergency medical education at three institutions. METHODS: We conducted an online survey study, examining quantitative outcomes and qualitative reflections, of emergency physicians who had previously undertaken a medical education registrar post...
May 22, 2018: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/29782368/tiny-moments-matter-promoting-professionalism-in-everyday-practice
#4
Elizabeth C Bernabeo, Benjamin Chesluk, Lorna Lynn
INTRODUCTION: Professionalism rests upon a number of individual, environmental, and societal level factors, leading to specific professional behavior in specific situations. Focusing on professional lapses to identify and remediate unprofessional physicians is incomplete. We explored professionalism in practicing internal medicine physicians in the context of everyday practice, to highlight how typical experiences contribute to positive, yet often unnoticed, professional behavior. METHODS: In-depth interviews were used to uncover 13 physicians' most meaningful experiences of professionalism...
May 16, 2018: Journal of Continuing Education in the Health Professions
https://www.readbyqxmd.com/read/29782008/de-novo-generation-of-somatic-stem-cells-by-yap-taz
#5
Tito Panciera, Luca Azzolin, Daniele Di Biagio, Antonio Totaro, Michelangelo Cordenonsi, Stefano Piccolo
Here we present protocols to isolate primary differentiated cells and turn them into stem/progenitor cells (SCs) of the same lineage by transient expression of the transcription factor YAP. With this method, luminal differentiated (LD) cells of the mouse mammary gland are converted into cells that exhibit molecular and functional properties of mammary SCs. YAP also turns fully differentiated pancreatic exocrine cells into pancreatic duct-like progenitors. Similarly, to endogenous, natural SCs, YAP-induced stem-like cells ("ySCs") can be eventually expanded as organoid cultures long term in vitro, without further need of ectopic YAP/TAZ, as ySCs are endowed with a heritable self-renewing SC-like state...
May 7, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29765884/visual-evoked-potential-in-children-with-developmental-disorders-correlation-with-neurodevelopmental-outcomes
#6
JaYoung Kim, In Young Sung, Eun Jae Ko, Minji Jung
Objective: To investigate the neurodevelopmental outcomes in children with developmental disorder according to visual evoked potential (VEP) results. Methods: We retrospectively analyzed children who visited our Department of Pediatric Rehabilitation Medicine with a chief complaint of developmental disability from January 2001 to July 2015. Of the 549 medical records reviewed, 322 children younger than 42 months who underwent both Bayley Scales of Infant and Toddler Development second edition (BSID-II) and VEP studies were enrolled...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29765861/mitochondrial-metabolism-mediated-regulation-of-adult-neurogenesis
#7
REVIEW
Ruth Beckervordersandforth
The life-long generation of new neurons from radial glia-like neural stem cells (NSCs) is achieved through a stereotypic developmental sequence that requires precise regulatory mechanisms to prevent exhaustion or uncontrolled growth of the stem cell pool. Cellular metabolism is the new kid on the block of adult neurogenesis research and the identity of stage-specific metabolic programs and their impact on neurogenesis turns out to be an emerging research topic in the field. Mitochondrial metabolism is best known for energy production but it contains a great deal more...
November 9, 2017: Brain Plasticity
https://www.readbyqxmd.com/read/29762118/pediatric-orthopaedic-consults-from-chiropractic-care
#8
Andy B Awwad, William L Hennrikus, Douglas G Armstrong
Alternative medicine in pediatrics is expanding, with chiropractic now a common choice for families seeking alternative medical care. Currently, there is sparse information in the literature exploring the role of chiropractic in orthopaedic pathology. The objective of this case series is to present pediatric patients who received treatment from chiropractors and orthopaedic physicians as well as to review the respective existing research. Data collected included chiropractic diagnosis, orthopaedic diagnosis, imaging studies, treatments, and complications...
2018: Journal of Surgical Orthopaedic Advances
https://www.readbyqxmd.com/read/29758979/developmental-screening-tool-accuracy-and-feasibility-of-non-invasive-anaemia-estimation
#9
Raja Muthalagu, Vijayan Thulasi Bai, Doreen Gracias, Sheila John
Anaemia is predicted as one of the serious communal health issue in the world. The deficiency exists most common among children and women. A substantial issue prevails in providing quality healthcare services to rural communities, which remains a challenge to health service providers throughout the world. Traditionally physician and health workers recognized anaemia from certain clinical findings, such as pallor of the conjunctivae, nail beds, lips, tongue, and oral mucosa. Confirmation of anaemic condition through physical examination of Dorsum of a tongue or lower bulbar conjunctiva is a subjective analysis...
April 30, 2018: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/29758563/pilot-study-of-population-based-newborn-screening-for-spinal-muscular-atrophy-in-new-york-state
#10
Jennifer N Kraszewski, Denise M Kay, Colleen F Stevens, Carrie Koval, Bianca Haser, Veronica Ortiz, Anthony Albertorio, Lilian L Cohen, Ritu Jain, Sarah P Andrew, Sally Dunaway Young, Nicole M LaMarca, Darryl C De Vivo, Michele Caggana, Wendy K Chung
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29756203/the-growing-role-of-machine-learning-and-artificial-intelligence-in-developmental-medicine
#11
Robert J Reynolds, Steven M Day
No abstract text is available yet for this article.
May 13, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29753812/imaging-transcription-factors-dynamics-with-advanced-fluorescence-microscopy-methods
#12
REVIEW
Paula Verneri, Juan José Romero, María Cecilia De Rossi, Yanina Alvarez, Camila Oses, Alejandra Guberman, Valeria Levi
Pluripotent stem cells (PSCs) are capable of self-renewing and producing all cell types derived from the three germ layers in response to developmental cues, constituting an important promise for regenerative medicine. Pluripotency depends on specific transcription factors (TFs) that induce genes required to preserve the undifferentiated state and repress other genes related to differentiation. The transcription machinery and regulatory components such as TFs are recruited dynamically on their target genes making it essential exploring their dynamics in living cells to understand the transcriptional output...
May 10, 2018: Mechanisms of Development
https://www.readbyqxmd.com/read/29749669/in-silico-analysis-of-single-cell-rna-sequencing-data-from-3-and-7-days-old-mouse-spermatogonial-stem-cells-to-identify-their-differentially-expressed-genes-and-transcriptional-regulators
#13
Sajjad Sisakhtnezhad
Spermatogonial stem cells (SSCs), which are at the basis of spermatogenesis process, are valuable cells with different applications in biotechnology and regenerative medicine. Understanding the molecular basis of SSC self-renewal and differentiation at various developmental stages of the male organism is crucial to find key factors in the SSCs fate and function. Therefore, this study was aimed to use single-cell RNA-sequencing dataset analysis for identification of differentially expressed genes (DEGs) and their regulators in 3 and 7 days old mouse-derived single SSCs (mSSCs)...
May 11, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29747718/what-has-traditional-chinese-medicine-delivered-for-modern-medicine
#14
Jigang Wang, Yin-Kwan Wong, Fulong Liao
The field of Traditional Chinese Medicine (TCM) represents a vast and largely untapped resource for modern medicine. Exemplified by the success of the antimalarial artemisinin, the recent years have seen a rapid increase in the understanding and application of TCM-derived herbs and formulations for evidence-based therapy. In this review, we summarise and discuss the developmental history, clinical background and molecular basis of an action for several representative TCM-derived medicines, including artemisinin, arsenic trioxide, berberine and Salvia miltiorrhiza or Danshen...
May 11, 2018: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/29746221/interprofessional-population-health-advocacy-developing-and-implementing-a-panel-management-curriculum-in-five-veterans-administration-primary-care-practices
#15
Maya Dulay, Judith L Bowen, William G Weppner, Abigail Eastburn, Anne P Poppe, Pete Spanos, Danielle Wojtaszek, Destiny Printz, Catherine P Kaminetzky
Health care systems expect primary care clinicians to manage panels of patients and improve population health, yet few have been trained to do so. An interprofessional panel management (PM) curriculum is one possible strategy to address this training gap and supply future primary care practices with clinicians and teams prepared to work together to improve the health of individual patients and populations. This paper describes a Veterans Administration (VA) sponsored multi-site interprofessional PM curriculum development effort...
May 10, 2018: Journal of Interprofessional Care
https://www.readbyqxmd.com/read/29743016/transcriptome-sequencing-and-analysis-during-seed-growth-and-development-in-euryale-ferox-salisb
#16
Xian Liu, Zhen He, Yulai Yin, Xu Xu, Weiwen Wu, Liangjun Li
BACKGROUND: Euryale ferox Salisb., an annual aquatic plant, is the only species in the genus Euryale in the Nymphaeaceae. Seeds of E. ferox are a nutritious food and also used in traditional Chinese medicine (Qian Shi in Mandarin). The molecular events that occurred during seed development in E. ferox have not yet been characterized. In this study, we performed transcriptomic analysis of four developmental stages (T1, T2, T3, and T4) in E. ferox seeds with three biological replicates per developmental stage to understand the physiological and biochemical processes during E...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29742331/youth-with-autism-spectrum-disorder-in-the-emergency-department
#17
Sarah Lytle, Andrew Hunt, Sonal Moratschek, Marcie Hall-Mennes, Martha Sajatovic
OBJECTIVE: This comprehensive literature review summarizes reports on emergency department (ED) use by youth with autism spectrum disorder (ASD). DATA SOURCES: We conducted a systematic search of the PubMed, PsycINFO, CINAHL, and EMBASE databases (1985-2016), limited to studies published in English. The following search terms were used: autism, autistic, Asperger, emergency department/room/physician/doctor/treatment/medicine, childhood developmental disorders (pervasive), and emergencies...
May 8, 2018: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29740868/de-novo-gain-of-function-variants-in-kcnt2-as-a-novel-cause-of-developmental-and-epileptic-encephalopathy
#18
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, Peter D Turnpenny, Sabine Uhrig, Saskia Biskup, Miriam Döcker, Thilo Fleck, Ilaria Mosca, Laura Manocchio, Nunzio Iraci, Maurizio Taglialatela, Johannes R Lemke
Variants in several potassium channel genes have been found in developmental and epileptic encephalopathies (DEE). We report two females with de novo variants in KCNT2 with West syndrome followed by Lennox-Gastaut syndrome or with DEE with migrating focal seizures. After in vitro analysis suggested quinidine-responsive gain-of-function effects, we treated one of the girls with quinidine add-on therapy and achieved marked clinical improvements. This suggests that the new spectrum of KCNT2-related disorders do not only share similar phenotypic and in vitro functional and pharmacological features with previously known KCNT1-related disorders but also represents a further example for possible precision medicine approaches...
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29736576/stem-cells-for-osteochondral-regeneration
#19
Raphaël F Canadas, Rogério P Pirraco, J Miguel Oliveira, Rui L Reis, Alexandra P Marques
Stem cell research plays a central role in the future of medicine, which is mainly dependent on the advances on regenerative medicine (RM), specifically in the disciplines of tissue engineering (TE) and cellular therapeutics. All RM strategies depend upon the harnessing, stimulation, or guidance of endogenous developmental or repair processes in which cells have an important role. Among the most clinically challenging disorders, cartilage degeneration, which also affects subchondral bone becoming an osteochondral (OC) defect, is one of the most demanding...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29733941/anti-quorum-sensing-activity-toxicity-in-zebrafish-danio-rerio-embryos-and-phytochemical-characterization-of-trapa-natans-leaf-extracts
#20
Ivana Aleksic, Petar Ristivojevic, Aleksandar Pavic, Ivana Radojević, Ljiljana R Čomić, Branka Vasiljevic, Dejan Opsenica, Dušanka Milojković-Opsenica, Lidija Senerovic
ETHNOPHARMACOLOGICAL RELEVANCE: Trapa natans L. (water chestnut or water caltrop) is a widespread aquatic plant, which has been cultivated for food and traditional medicine since ancient times. Pharmacological studies showed that water chestnut exhibits the wide range of biological activities, such as antimicrobial, antioxidative, analgesic, anti-inflammatory, as well as antiulcer. AIMOF THE STUDY: Evaluation of anti-virulence potential and toxicity of T. natans methanol (TnM), acetone (TnA) and ethyl acetate (TnEA) leaf extracts...
May 4, 2018: Journal of Ethnopharmacology
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