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Developmental Medicine

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https://www.readbyqxmd.com/read/27934932/expression-profiling-and-functional-annotation-of-noncoding-genes-across-11-distinct-organs-in-rat-development
#1
Zhuo Wen, Geng Chen, Sibo Zhu, Jinhang Zhu, Bin Li, Yunjie Song, Suqing Li, Leming Shi, Yuanting Zheng, Menglong Li
Accumulating evidence suggests that noncoding RNAs (ncRNAs) have important regulatory functions. However, lacking of functional annotations for ncRNAs hampered us from carrying out the subsequent functional or predictive research. Here we dissected the expression profiles of 3,458 rat noncoding genes using rat bodymap RNA-sequencing data consisting of 11 solid organs over four developmental stages (juvenile, adolescent, adult and aged) from both sexes, and conducted a comprehensive analysis of differentially expressed noncoding genes (DEnGs) between various conditions...
December 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27923089/correlations-between-ratings-on-the-resident-annual-evaluation-summary-and-the-internal-medicine-milestones-and-association-with-abim-certification-examination-scores-among-us-internal-medicine-residents-2013-2014
#2
Karen E Hauer, Jonathan Vandergrift, Brian Hess, Rebecca S Lipner, Eric S Holmboe, Sarah Hood, William Iobst, Stanley J Hamstra, Furman S McDonald
Importance: US internal medicine residency programs are now required to rate residents using milestones. Evidence of validity of milestone ratings is needed. Objective: To compare ratings of internal medicine residents using the pre-2015 resident annual evaluation summary (RAES), a nondevelopmental rating scale, with developmental milestone ratings. Design, Setting, and Participants: Cross-sectional study of US internal medicine residency programs in the 2013-2014 academic year, including 21 284 internal medicine residents (7048 postgraduate-year 1 [PGY-1], 7233 PGY-2, and 7003 PGY-3)...
December 6, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27921036/acute-kidney-injury-in-asia
#3
REVIEW
Li Yang
BACKGROUND: Acute kidney injury (AKI) is a common disorder and is associated with a high morbidity and mortality worldwide. The diversity of the climate and of the socioeconomic and developmental status in Asia has a great influence on the etiology and presentation of AKI in different regions. In view of the International Society of Nephrology's 0by25 initiative, more and more attention has been paid to AKI in Asian countries. SUMMARY: In this review, we summarize the recent achievements with regard to the prevalence and clinical patterns of AKI in Asian countries...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27916275/artemisinins-target-gabaa-receptor-signaling-and-impair-%C3%AE-cell-identity
#4
Jin Li, Tamara Casteels, Thomas Frogne, Camilla Ingvorsen, Christian Honoré, Monica Courtney, Kilian V M Huber, Nicole Schmitner, Robin A Kimmel, Roman A Romanov, Caterina Sturtzel, Charles-Hugues Lardeau, Johanna Klughammer, Matthias Farlik, Sara Sdelci, Andhira Vieira, Fabio Avolio, François Briand, Igor Baburin, Peter Májek, Florian M Pauler, Thomas Penz, Alexey Stukalov, Manuela Gridling, Katja Parapatics, Charlotte Barbieux, Ekaterine Berishvili, Andreas Spittler, Jacques Colinge, Keiryn L Bennett, Steffen Hering, Thierry Sulpice, Christoph Bock, Martin Distel, Tibor Harkany, Dirk Meyer, Giulio Superti-Furga, Patrick Collombat, Jacob Hecksher-Sørensen, Stefan Kubicek
Type 1 diabetes is characterized by the destruction of pancreatic β cells, and generating new insulin-producing cells from other cell types is a major aim of regenerative medicine. One promising approach is transdifferentiation of developmentally related pancreatic cell types, including glucagon-producing α cells. In a genetic model, loss of the master regulatory transcription factor Arx is sufficient to induce the conversion of α cells to functional β-like cells. Here, we identify artemisinins as small molecules that functionally repress Arx by causing its translocation to the cytoplasm...
November 30, 2016: Cell
https://www.readbyqxmd.com/read/27912958/a-systematic-review-of-the-ayurvedic-medicinal-herb-bacopa-monnieri-in-child-and-adolescent-populations
#5
REVIEW
James D Kean, Luke A Downey, Con Stough
OBJECTIVES: Clinicians utilise critical research to advance their knowledge when prescribing standard and alternative therapies for developmental disorders. Recent research has reported that the traditional Ayurvedic medicine Bacopa monnieri may improve cognitive outcomes in adult populations; however, few studies have investigated its benefits in younger cohorts. The aim of the current review is to systematically assess and critically summarize clinical trial outcomes and safety of Bacopa and its effects on the cognition and behaviour in children and adolescents...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27908672/forensic-age-estimation-in-anti-piracy-trials-in-seychelles-experiences-and-challenges-faced
#6
S A Gunawardena, U A Liyanage, J B Weeratna, N D N A Mendis, H J M Perera, R W Jayasekara, R Fernando
Forensic age estimation (FAE) was conducted using a multifactorial method on thirteen Somali detainees claiming juvenile status during the anti-piracy trials of the Seychelles Supreme Court in 2014/2015. A multidisciplinary team, comprising of four of the authors covering specialties in forensic medicine, forensic odontology and radiology, conducted the FAE using a five-stage protocol. Each detainee was interviewed with an interpreter and examined for disorders affecting dental/skeletal development and for assessment of genital development through Tanner staging...
November 14, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27906881/stem-cells-and-clinical-practice-new-advances-and-challenges-at-the-time-of-emerging-problems-with-induced-pluripotent-stem-cell-therapies
#7
Mariusz Z Ratajczak, Kamila Bujko, Wojciech Wojakowski
Humans, like other species that reproduce sexually, originate from a fertilized oocyte (zygote), which is a totipotent stem cell giving rise to an adult organism. During the process of embryogenesis, stem cells at different levels of the developmental hierarchy establish all 3 germ layers and give rise to tissue‑committed stem cells, which are responsible for rejuvenation of a given tissue or organ. The robustness of the stem cell compartment is one of the major factors that directly impact life quality as well as lifespan...
November 10, 2016: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#8
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27905261/beneath-the-sword-of-damocles-regenerative-medicine-and-the-shadow-of-immunogenicity
#9
Paul J Fairchild, Christopher Horton, Priyoshi Lahiri, Kumaran Shanmugarajah, Timothy J Davies
Few topics in regenerative medicine have inspired such impassioned debate as the immunogenicity of cell types and tissues differentiated from pluripotent stem cells. While early predictions suggested that tissues derived from allogeneic sources may evade immune surveillance altogether, the pendulum has since swung to the opposite extreme, with reports that the ectopic expression of a few developmental antigens may prompt rejection, even of tissues differentiated from autologous cell lines. Here we review the evidence on which these contradictory claims are based in order to reach an objective assessment of the likely magnitude of the immunological challenges ahead...
December 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#10
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27891787/evaluation-of-the-western-australian-register-of-developmental-anomalies-thirty-five-years-of-surveillance
#11
Wendy N Nembhard, Carol Bower
BACKGROUND: The birth defects component of the Western Australian Register for Developmental Anomalies (WARDA-BD) was evaluated to assess its efficiency, effectiveness, and data quality. METHODS: WARDA-BD was evaluated using the Centers for Disease Control and Prevention Guidelines for Evaluating Public Health Surveillance Systems and Data Quality Standards from the National Birth Defects Prevention Network. The evaluation included interviews with Register staff, local community organizations, parents, clinicians, and researchers; process observation; and secondary data analyses...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27885899/regenerative-medicine-lessons-from-mother-nature
#12
Juan Diego Naranjo, Michelle E Scarritt, Luai Huleihel, Anjani Ravindra, Crisanto M Torres, Stephen F Badylak
Regenerative medicine strategies for the restoration of functional tissue have evolved from the concept of ex vivo creation of engineered tissue toward the broader concept of in vivo induction of functional tissue reconstruction. Multidisciplinary approaches are being investigated to achieve this goal using evolutionarily conserved principles of stem cell biology, developmental biology and immunology, current methods of engineering and medicine. This evolution from ex vivo tissue engineering to the manipulation of fundamental in vivo tenets of development and regeneration has the potential to capitalize upon the incredibly complex and only partially understood ability of cells to adapt, proliferate, self-organize and differentiate into functional tissue...
December 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27885189/-tissue-regenerative-therapies-based-on-regulatory-mechanisms-underlying-bone-and-cartilage-development
#13
Shinsuke Ohba
Regenerative medicine is an approach that maximizes the natural healing ability by modulating regeneration-inducing signals within appropriate cells in combination with scaffolds. Tissue repair processes and developmental processes largely share common molecular mechanisms. Being inspired by the mechanisms, a large number of studies have been carried out on development of efficient systems for bone and cartilage regeneration. It would be the next step in this field to achieve the stability of regenerated tissues by modulating signals and intracellular molecules that are involved in the maintenance and metabolism of the tissues...
2016: Clinical Calcium
https://www.readbyqxmd.com/read/27882168/monozygotic-twins-with-infantile-neuroaxonal-dystrophy-a-case-report-and-literature-review
#14
Haifeng Li, Yan Zou, Xinhua Bao, Hui Wang, Jiangping Wang, Huiying Jin, Yuping Che, Xiaoyan Tang
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease with early onset. PLA2G6 gene mutations have been identified in the majority individuals with INAD. In future, molecular diagnosis of INAD will replace the invasive biopsies used previously. In the present report, monozygotic male twins with INAD were referred The Children's Hospital (Zhejiang University School of Medicine, Zhejiang, China) at fifteen months old for delayed development. The older brother was found to have developmental stagnation when he was 6 months old...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27880763/inhibition-of-mtor-induces-a-paused-pluripotent-state
#15
Aydan Bulut-Karslioglu, Steffen Biechele, Hu Jin, Trisha A Macrae, Miroslav Hejna, Marina Gertsenstein, Jun S Song, Miguel Ramalho-Santos
Cultured pluripotent stem cells are a cornerstone of regenerative medicine owing to their ability to give rise to all cell types of the body. Although pluripotent stem cells can be propagated indefinitely in vitro, pluripotency is paradoxically a transient state in vivo, lasting 2-3 days around the time of blastocyst implantation. The exception to this rule is embryonic diapause, a reversible state of suspended development triggered by unfavourable conditions. Diapause is a physiological reproductive strategy widely employed across the animal kingdom, including in mammals, but its regulation remains poorly understood...
December 1, 2016: Nature
https://www.readbyqxmd.com/read/27875781/long-term-pediatrician-outcomes-of-a-parent-led-curriculum-in-developmental-disabilities
#16
Bruce L Keisling, Elizabeth A Bishop, David A Kube, Jenness M Roth, Frederick B Palmer
: Previous research has demonstrated high satisfaction and perceived relevance of Project DOCC (Delivery of Chronic Care), a parent led curriculum in developmental disabilities, across a sample of medical residents. AIMS: The influence of such a training program on the clinical practices and professional activities of these residents once they are established in their careers as physicians, however, has not been studied; this was the aim of the present study. METHODS: An anonymous follow-up survey was designed and disseminated to physicians who participated in Project DOCC during their one-month developmental disabilities rotation as part of their pediatrics or medicine/pediatric residency between 2002 and 2010...
November 19, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27875541/new-perspective-on-impact-of-folic-acid-supplementation-during-pregnancy-on-neurodevelopment-autism-in-the-offspring-children-a-systematic-review
#17
Yunfei Gao, Chao Sheng, Ri-Hua Xie, Wen Sun, Elizabeth Asztalos, Diane Moddemann, Lonnie Zwaigenbaum, Mark Walker, Shi Wu Wen
It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs...
2016: PloS One
https://www.readbyqxmd.com/read/27870346/divided-zygomatic-bone-in-primates-with-implications-of-skull-morphology-and-biomechanics
#18
Qian Wang, Paul C Dechow
Typically the zygoma is a single bone in the facial skeleton whose shape uniquely copes with loads associated with mastication. Rarely but naturally, the zygoma is divided into two or more parts by supernumerary sutures. These extra intrazygomatic sutures are located at an area of critical morphological and biomechanical importance, yet their impacts have not been studied. In this study, the morphological and possible biomechanical consequences of the divided zygoma (DZ) were investigated in primates including rhesus macaques (Macaca mulatta), orangutans (Pongo abelii and P...
December 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27863203/safflower-catharmus-tinctorius-l-oil-supplementation-in-overnourished-rats-during-early-neonatal-development-effects-on-heart-and-liver-function-in-the-adult
#19
Laís Ribeiro Costa, Patrícia Cavalcanti Macêdo, Janatar Stella Vasconcelos de Melo, Cristiane Moura Freitas, Aiany Simoes Alves, Humberto de Moura Barbosa, Eduardo Lira, Mariana Pinheiro Fernandes, Manuella Batista-de-Oliveira-Hornsby, Claudia Lagranha
Carthamus tinctorius L. (common name: safflower) is an herb whose extracted oil (safflower oil) has been employed in both alternative and conventional medicine in the treatment of disease. Overnutrition during early postnatal life can increase the lifetime risk of obesity and metabolic syndrome. Here we investigate the effect of safflower oil supplementation given during a critical early developmental stage on the eventual occurrence of metabolic disease in overnourished rats. Groups of overnourished or adequately nourished rats were randomly assigned into 2 additional groups for supplementation with either safflower oil (SF) or vehicle for 7 to 30 days...
December 2016: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/27861942/the-ectopic-accessory-parotid-system-with-congenital-cheek-fistula-an-overview-and-current-update
#20
REVIEW
Mainak Dutta
OBJECTIVE: This review attempts to provide a comprehensive, updated overview of the ectopic accessory parotid system (EAPS) from clinical and developmental perspectives and investigates its eligibility to be included in the oculo-auriculo-vertebral spectrum (OAVS). REVIEW METHODS: Results of the keyword-based search in the PubMed/MEDLINE, Google Scholar, LILACS, and Cochrane Library were subjected to the given inclusion and exclusion criteria that corroborated with the definition of EAPS...
November 12, 2016: Laryngoscope
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