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https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#1
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28646354/associations-between-race-and-eating-disorder-symptom-trajectories-in-black-and-white-girls
#2
Lindsay P Bodell, Jennifer E Wildes, Yu Cheng, Andrea B Goldschmidt, Kate Keenan, Alison E Hipwell, Stephanie D Stepp
Epidemiological research suggests racial differences in the presentation of eating disorder symptoms. However, no studies have examined associations between race and eating disorder symptom trajectories across youth and adolescence, which is necessary to inform culturally sensitive prevention programs. The purpose of the current study was to examine the trajectories of eating disorder symptoms from childhood to young adulthood and to examine whether race was associated with trajectory group membership. Data were drawn from 2,305 Black and White girls who participated in a community-based longitudinal cohort study (Pittsburgh Girls Study) examining the development of psychopathology...
June 23, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28646158/metabolic-recovery-of-lipodystrophy-liver-steatosis-and-pancreatic-%C3%AE-cell-proliferation-after-the-withdrawal-of-osi-906
#3
Kazuki Tajima, Jun Shirakawa, Yu Togashi, Shunsuke Yamazaki, Tomoko Okuyama, Mayu Kyohara, Hiromi Konishi, Yasuo Terauchi
Growth factor signaling via insulin receptor (IR) and IGF-1 receptor (IGF1R) plays several important roles in the pathogenesis of metabolic syndrome and diabetes. OSI-906 (linsitinib), an anti-tumor drug, is an orally bioavailable dual inhibitor of IR and IGF1R. To investigate the recovery from metabolic changes induced by the acute inhibition of IR and IGF1R in adult mice, mice were treated with OSI-906 or a vehicle for 7 days and the results were analyzed on the last day of injection (Day 7) or after 7 or 21 days of withdrawal (Day 14 or Day 28)...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28646095/estimated-reductions-in-provider-initiated-preterm-births-and-hospital-length-of-stay-under-a-universal-acetylsalicylic-acid-prophylaxis-strategy-a-retrospective-cohort-study
#4
Joel G Ray, Emily Bartsch, Alison L Park, Prakesh S Shah, Susie Dzakpasu
BACKGROUND: Hypertensive disorders, especially preeclampsia, are the leading reason for provider-initiated preterm birth. We estimated how universal acetylsalicylic acid (ASA) prophylaxis might reduce rates of provider-initiated preterm birth associated with preeclampsia and intrauterine growth restriction, which are related conditions. METHODS: We performed a cohort study of singleton hospital births in 2013 in Canada, excluding Quebec. We estimated the proportion of term births and provider-initiated preterm births affected by preeclampsia and/or intrauterine growth restriction, and the corresponding mean maternal and newborn hospital length of stay...
June 23, 2017: CMAJ Open
https://www.readbyqxmd.com/read/28645320/acromegaly-discovered-during-a-routine-out-patient-surgical-procedure-a-case-report
#5
Chukwudi O Chiaghana, Julia M Bauerfeind, Cheri A Sulek, J Christopher Goldstein, Caleb A Awoniyi
BACKGROUND: Acromegaly is a rare syndrome in which there is unregulated hypersecretion of growth hormone. The anesthetic management of patients with this disorder is particularly challenging due to pre-existing cardiovascular and respiratory dysfunction, as well as recognized difficulties with airway management. Because of the insidious progression of the disease and the presence of nonspecific signs and symptoms, diagnosis is often made late when characteristic acromegalic features become apparent...
June 24, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28644734/high-throughput-phenotypic-screening-of-kinase-inhibitors-to-identify-drug-targets-for-polycystic-kidney-disease
#6
Tijmen H Booij, Hester Bange, Wouter N Leonhard, Kuan Yan, Michiel Fokkelman, Steven J Kunnen, Johannes G Dauwerse, Yu Qin, Bob van de Water, Gerard J P van Westen, Dorien J M Peters, Leo S Price
Polycystic kidney disease (PKD) is a prevalent disorder characterized by renal cysts that lead to kidney failure. Various signaling pathways have been targeted to stop disease progression, but most interventions still focus on alleviating PKD-associated symptoms. The mechanistic complexity of the disease, as well as the lack of functional in vitro assays for compound testing, has made drug discovery for PKD challenging. To identify modulators of PKD, Pkd1(-/-) kidney tubule epithelial cells were applied to a scalable and automated 3D cyst culture model for compound screening, followed by phenotypic profiling to determine compound efficacy...
June 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28643552/drug-induced-physeal-abnormalities-in-preclinical-toxicity-studies
#7
Kendall S Frazier
Most toxic physeal changes are characterized microscopically by altered chondrocyte development, proliferation, or maturation in the growth plate and eventually result in disordered appositional bone growth. Many therapeutic drugs directly or indirectly target proteins involved in chondrocytic differentiation and maturation pathways, so toxic physeal injury has become increasingly common in preclinical toxicologic pathology. While physeal dysplasia has been associated with several different drug classes including bisphosphonates, vascular endothelial growth factor receptor inhibitors, fibroblast growth factor receptor inhibitors, transforming growth factor beta receptor inhibitors, and vascular targeting agents, physeal changes often share similar morphologic features including thickening and disorganization of the hypertrophic layer, increased numbers of hypertrophic chondrocytes, altered mineralization of endochondral ossification, and/or increased thickness of subphyseal bone...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28643234/body-mass-disorders-in-healthy-short-children-and-in-children-with-growth-hormone-deficiency
#8
Paweł Tomaszewski, Katarzyna Milde, Anna Majcher, Beata Pyrżak, Gul Tiryaki-Sonmez, Brad J Schoenfeld
The aim of the study was to determine the degree of adiposity and the incidence of body mass disorders, including abdominal obesity, in healthy short children and children with growth hormone deficiency. The study included 134 short children (height < 10th percentile) aged 7-15. In this cohort there were 63 (31 boys and 32 girls) children without diagnosed hormonal disorders and 71 patients (35 boys and 36 girls) with growth hormone deficiency. Basic somatic features were assessed and the study participants were categorized according to the percentage of body fat (%FAT), body mass index (BMI), and waist-to-height ratio (WHtR)...
June 23, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28643220/denosumab-an-emerging-therapy-in-pediatric-bone-disorders
#9
REVIEW
Alison M Boyce
PURPOSE OF REVIEW: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand (RANKL), and has emerged as an important novel therapy for skeletal disorders. This article examines the use of denosumab in children. RECENT FINDINGS: Considerable safety and efficacy data exists for denosumab treatment of adults with osteoporosis, bone metastases, and giant cell tumors. Pediatric data is limited; however, evidence suggests denosumab may be beneficial in decreasing bone turnover, increasing bone density, and preventing growth of certain skeletal neoplasms in children...
June 22, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28643166/structural-disorder-in-plant-proteins-where-plasticity-meets-sessility
#10
REVIEW
Alejandra A Covarrubias, Cesar L Cuevas-Velazquez, Paulette S Romero-Pérez, David F Rendón-Luna, Caspar C C Chater
Plants are sessile organisms. This intriguing nature provokes the question of how they survive despite the continual perturbations caused by their constantly changing environment. The large amount of knowledge accumulated to date demonstrates the fascinating dynamic and plastic mechanisms, which underpin the diverse strategies selected in plants in response to the fluctuating environment. This phenotypic plasticity requires an efficient integration of external cues to their growth and developmental programs that can only be achieved through the dynamic and interactive coordination of various signaling networks...
June 22, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28642576/upregulation-of-mir-223-in-the-rat-liver-inhibits-proliferation-of-hepatocytes-under-simulated-microgravity
#11
Yongjie Chen, Ji Xu, Chao Yang, Hongyu Zhang, Feng Wu, Jian Chen, Kai Li, Hailong Wang, Yu Li, Yinghui Li, Zhongquan Dai
Long-term spaceflight affects numerous organ systems in the body, including metabolic dysfunction. Recently, ample evidence has demonstrated that the liver is a vulnerable organ during spaceflight. However, the changes in hepatocyte proliferation and cell cycle control under microgravity remain largely unexplored. In the present study, we first confirmed that the serum levels of aspartate aminotransferase, alanine aminotransferase and alkaline phosphatase, biochemical markers of liver function, were altered in rats under tail suspension (TS) conditions to simulate microgravity, as shown in previous reports...
June 23, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/28642051/a-revisited-concept-contact-inhibition-of-growth-from-cell-biology-to-malignancy
#12
REVIEW
Domenico Ribatti
In cell biology, contact inhibition refers to two different but closely related phenomena, contact inhibition of locomotion and contact inhibition of proliferation, exhibited by fibroblasts when in contact with one another. Normal fibroblasts migrate across the surface of a culture dish until they make contact with a neighboring cell. Further cell migration is then inhibited, and normal cells adhere to each other, forming an orderly array of cells on the culture dish surface. Tumor cells, in contrast, continue moving after contact with their neighbors, migrating over adjacent cells, and growing in disordered, multilayered patterns...
June 19, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28641949/reduced-protein-expressions-of-cytomembrane-gabaar%C3%AE-3-at-different-postnatal-developmental-stages-of-rats-exposed-prenatally-to-valproic-acid
#13
Yixin Li, Yang Zhou, Li Peng, Yong Zhao
Decreased inhibition plays an extremely important role in pathogenesis of autism spectrum disorder (ASD). Therefore, we aimed to determine whether expression levels of the γ-aminobutyric acid type A receptor β3 subunit (GABAARβ3), K(+)-Cl(-) cotransporter 2 (KCC2), and Na(+)-K(+)-Cl(-) cotransporter 1 (NKCC1) related to inhibition transmission are changed in a sodium valproate-induced rat model of ASD. Decreased expression levels of membrane GABAARβ3 (m-GABAARβ3) and KCC2 as well as increased endocytosis of GABAARs were found in the model group...
June 19, 2017: Brain Research
https://www.readbyqxmd.com/read/28641547/recent-advances-on-the-role-of-micrornas-in-both-insulin-resistance-and-cancer
#14
Adele Vivacqua, Paola De Marco, Antonino Belfiore, Marcello Maggiolini
BACKGROUND: Insulin resistance is a pathological condition characterized by the failure of target cells to uptake and metabolizes glucose in response to insulin. In particular, the elevated concentrations of glucose, insulin and free insulin growth factor-1, which result from insulin resistance, may generate a pro-inflammatory and pro-tumorigenic state. These alterations may underlie the increased risk to develop various types of cancer as well as the worse cancer prognosis observed in obese and diabetic patients...
June 22, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28641215/worry-and-cognitive-control-predict-course-trajectories-of-anxiety-in-older-adults-with-late-life-depression
#15
P Spinhoven, D C van der Veen, R C Oude Voshaar, H C Comijs
BACKGROUND: Many older adults with depressive disorder manifest anxious distress. This longitudinal study examines the predictive value of worry as a maladaptive cognitive emotion regulation strategy, and resources necessary for successful emotion regulation (i.e., cognitive control and resting heart rate variability [HRV]) for the course of anxiety symptoms in depressed older adults. Moreover, it examines whether these emotion regulation variables moderate the impact of negative life events on severity of anxiety symptoms...
May 19, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#16
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28640441/adipose-tissue-derived-omentin-1-function-and-regulation
#17
Takuya Watanabe, Kaho Watanabe-Kominato, Yui Takahashi, Miho Kojima, Rena Watanabe
Omentin-1, also known as intelectin-1, is a recently identified novel adipocytokine of 313 amino acids, which is expressed in visceral (omental and epicardial) fat as well as mesothelial cells, vascular cells, airway goblet cells, small intestine, colon, ovary, and plasma. The level of omentin-1 expression in (pre)adipocytes is decreased by glucose/insulin and stimulated by fibroblast growth factor-21 and dexamethasone. Several lines of experimental evidence have shown that omentin-1 plays crucial roles in the maintenance of body metabolism and insulin sensitivity, and has anti-inflammatory, anti-atherosclerotic, and cardiovascular protective effects via AMP-activated protein kinase/Akt/nuclear factor-κB/mitogen-activated protein kinase (ERK, JNK, and p38) signaling...
June 18, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28640244/systematic-design-and-comparison-of-expanded-carrier-screening-panels
#18
Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K Eerik Kaseniit, H Peter Kang, Eric A Evans, James D Goldberg, Gabriel A Lazarin, Imran S Haque
PurposeThe recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choice.MethodsGuided by medical-society statements, we propose a method for the design of ECS panels that aims to maximize the aggregate and per-disease sensitivity and specificity across a range of Mendelian disorders considered serious by a systematic classification scheme...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640239/temple-syndrome-comprehensive-molecular-and-clinical-findings-in-32-japanese-patients
#19
Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640224/nomegestrol-acetate-suppresses-human-endometrial-cancer-rl95-2-cells-proliferation-in-vitro-and-in-vivo-possibly-related-to-upregulating-expression-of-sufu-and-wnt7a
#20
A-Ying Ma, Shu-Wu Xie, Jie-Yun Zhou, Yan Zhu
Nomegestrol acetate (NOMAC) has been successfully used for the treatment of some gynecological disorders, and as a combined oral contraceptive with approval in many countries. In this study, we investigated the effects of NOMAC on human endometrial cancer cells in vitro and in vivo. The proliferation of human endometrial cancer cells (RL95-2 and KLE) were assessed using CCK-8 and EdU incorporation assays. Whole-genome cDNA microarray analysis was used to identify the effects of NOMAC on gene expression profiles in RL95-2 cells...
June 22, 2017: International Journal of Molecular Sciences
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