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Growth disorders

Kenneth D Swanson, Bin Zheng
In this issue of Molecular Cell, Lin et al. (2018) report that chondroitin-4-sulfate, which is found in a common supplement meant to alleviate degenerative joint disorders, promotes the growth of BRAF V600E mutant melanoma. This study not only has implications for patient care but also sheds light on a novel mechanism for regulating phosphoinositide 3-kinase signaling.
March 15, 2018: Molecular Cell
Lily Wei Chen, Chien-Jung Huang, Wen-Hui Tu, Chia-Ju Lu, Yi-Chen Sun, Szu-Yuan Lin, Wei-Li Chen
PURPOSE: To evaluate whether lyophilized human platelet lysate (HPL) powder can preserve the growth factor concentrations and epitheliotrophic properties of liquid HPL, and potentially be used as a clinically-friendly treatment option. METHODS: Two commercialized liquid HPLs, UltraGRO TM (Helios, Atlanta, GA) and PLTMax (Mill Creek, Rochester, MI), were obtained and converted to lyophilized powder. After redissolution, lyophilized powder HPLs were compared with liquid HPLs, as well as human peripheral serum (HPS) and fetal bovine serum (FBS) in liquid or redissolved lyophilized powder forms...
2018: PloS One
Oscar H L Bing
Ammonia plays a central role in the life and death of all living organisms and has been studied for over one hundred years. Ammonia is necessary for growth and development but it is toxic in excess and, as a result, differing methods of ammonia neutralization have evolved. Following physiological and pathological stress to the heart, tissue ammonia levels rise. Local ammonia neutralization may be inadequate and excess ammonia may exert its toxic effects. Phenylbutyrate (PBA), which is FDA approved for the treatment of elevated blood ammonia in urea cycle disorders, provides an accessory pathway for ammonia clearance...
March 16, 2018: American Journal of Physiology. Heart and Circulatory Physiology
Michael B Ranke, Jan M Wit
Growth hormone (GH) research and its clinical application for the treatment of growth disorders span more than a century. During the first half of the 20th century, clinical observations and anatomical and biochemical studies formed the basis of the understanding of the structure of GH and its various metabolic effects in animals. The following period (1958-1985), during which pituitary-derived human GH was used, generated a wealth of information on the regulation and physiological role of GH - in conjunction with insulin-like growth factors (IGFs) - and its use in children with GH deficiency (GHD)...
March 16, 2018: Nature Reviews. Endocrinology
Ruchita Dixit, Sowmya Nettem, Simerjit S Madan, Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Leah D Vance, Patrick J Stover
BACKGROUND: Sickle cell disease (SCD) is a group of disorders that affects haemoglobin, which causes distorted sickle- or crescent-shaped red blood cells. It is characterized by anaemia, increased susceptibility to infections and episodes of pain. The disease is acquired by inheriting abnormal genes from both parents, the combination giving rise to different forms of the disease. Due to increased erythropoiesis in people with SCD, it is hypothesized that they are at an increased risk for folate deficiency...
March 16, 2018: Cochrane Database of Systematic Reviews
Rishibha Sachdev, Karin Kappes-Horn, Lydia Paulsen, Yvonne Duernberger, Catharina Pleschka, Philip Denner, Bishwajit Kundu, Jens Reimann, Ina Vorberg
Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disorder in the elderly with no defined etiology or effective therapy. Endoplasmic reticulum stress and deposition of myostatin, a secreted negative regulator of muscle growth, have been implicated in disease pathology. The myostatin signaling pathway has emerged as a major target for symptomatic treatment of muscle atrophy. Here, we systematically analyzed the maturation and secretion of myostatin precursor MstnPP and its metabolites in a human muscle cell line...
March 15, 2018: Molecular Neurobiology
Ali Ben Djoudi Ouadda, Yi He, Viviane Calabrese, Hidetaka Ishii, Rony Chidiac, Jean-Philippe Gratton, Philippe P Roux, Nathalie Lamarche-Vane
Cdc42 GTPase-activating protein (CdGAP, also named ARHGAP31) is a negative regulator of the GTPases Rac1 and Cdc42. Associated with the rare developmental disorder Adams-Oliver Syndrome (AOS), CdGAP is critical for embryonic vascular development and VEGF-mediated angiogenesis. Moreover, CdGAP is an essential component in the synergistic interaction between TGFβ and ErbB-2 signaling pathways during breast cancer cell migration and invasion, and is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer...
February 20, 2018: Oncotarget
Virginia Piombo, Katja Jochmann, Daniel Hoffmann, Manuela Wuelling, Andrea Vortkamp
Multiple osteochondromas (MO) syndrome is a dominant autosomal bone disorder characterized by the formation of cartilage-capped bony outgrowths that develop at the juxtaposition of the growth plate of endochondral bones. MO has been linked to mutations in either EXT1 or EXT2, two glycosyltransferases required for the synthesis of heparan sulfate (HS). The establishment of mouse mutants demonstrated that a clonal, homozygous loss of Ext1 in a wild type background leads to the development of osteochondromas. Here we investigate mechanisms that might contribute to the variation in the severity of the disease observed in human patients...
March 12, 2018: Bone
Diana Olvera, Rachel Stolzenfeld, Joan C Marini, Michelle S Caird, Kenneth M Kozloff
Osteogenesis imperfecta (OI) is a genetic disorder characterized by altered bone quality and imbalanced bone remodeling, leading to skeletal fractures which are most prominent during childhood. Treatments for OI have focused on restoring pediatric bone density and architecture to recover functional strength and consequently reduce fragility. Though antiresorptive agents like bisphosphonates (BP) are currently the most common intervention for the treatment of OI, a number of studies have shown efficacy of sclerostin antibody (SclAb) in inducing gains in bone mass and reducing fragility in OI mouse models...
March 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Ana E López-Pérez, Kulmira Nurgali, Raquel Abalo
Beyond their well-known role in embryonic development of the central and peripheral nervous system, neurotrophins, particularly nerve growth factor and brain-derived neurotrophic factor, exert an essential role in pain production and sensitization. This has mainly been studied within the framework of somatic pain, and even antibodies (tanezumab and fasinumab) have recently been developed for their use in chronic somatic painful conditions, such as osteoarthritis or low back pain. However, data suggest that neurotrophins also exert an important role in the occurrence of visceral pain and visceral sensitization...
April 2018: Behavioural Pharmacology
Ken Xuan Wei, Chandrasekhar Ramanathan, Paola Cappellaro
Characterizing out-of-equilibrium many-body dynamics is a complex but crucial task for quantum applications and understanding fundamental phenomena. A central question is the role of localization in quenching thermalization in many-body systems and whether such localization survives in the presence of interactions. Probing this question in real systems necessitates the development of an experimentally measurable metric that can distinguish between different types of localization. While it is known that the localized phase of interacting systems [many-body localization (MBL)] exhibits a long-time logarithmic growth in entanglement entropy that distinguishes it from the noninteracting case of Anderson localization (AL), entanglement entropy is difficult to measure experimentally...
February 16, 2018: Physical Review Letters
Philipp T Dumitrescu, Romain Vasseur, Andrew C Potter
We simulate the dynamics of a disordered interacting spin chain subject to a quasiperiodic time-dependent drive, corresponding to a stroboscopic Fibonacci sequence of two distinct Hamiltonians. Exploiting the recursive drive structure, we can efficiently simulate exponentially long times. After an initial transient, the system exhibits a long-lived glassy regime characterized by a logarithmically slow growth of entanglement and decay of correlations analogous to the dynamics at the many-body delocalization transition...
February 16, 2018: Physical Review Letters
Verónica Schiariti, Eileen Fowler, Joline E Brandenburg, Eric Levey, Sarah Mcintyre, Theresa Sukal-Moulton, Sharon L Ramey, Jessica Rose, Susan Sienko, Elaine Stashinko, Laura Vogtle, Robin S Feldman, James I Koenig
To increase the efficiency and effectiveness of clinical research studies, cerebral palsy (CP) specific Common Data Elements (CDEs) were developed through a partnership between the National Institute of Neurological Disorders and Stroke (NINDS) and the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM). International experts reviewed existing NINDS CDEs and tools used in studies of children and young people with CP. CDEs were compiled, subjected to internal review, and posted online for external public comment in September 2016...
March 15, 2018: Developmental Medicine and Child Neurology
Neerupma Bhardwaj, Kirtimaan Syal, Dipankar Chatterji
ppGpp, an alarmone for stringent response, plays an important role in the reprogramming of the transcription complex at the time of stress. In Escherichia coli, ppGpp mediates its action by binding to at least two different sites on RNA polymerase (RNAP). One of the sites to which ppGpp binds to RNAP is at the β'-ω interface; however, the underlying molecular mechanism and the physiological relevance of ppGpp binding to this site remain unclear. In this study, we have performed UV cross-linking experiments using32 P azido-labeled ppGpp to probe its association with RNAP in the absence and presence of ω, and observed weaker binding of ppGpp to the RNAP without ω...
March 15, 2018: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
Alessandro Antônio Costa Pereira, Christian Barros Ferreira, João Adolfo Costa Hanemann, Livia Maris Ribeiro Paranaiba, Patricia Peres Iucif Pereira, Carla Isabelly Rodrigues-Fernandes, Celeste Sánchez-Romero, Oslei Paes de Almeida, Felipe Paiva Fonseca
Lymphomatoid granulomatosis (LYG) is a rare B-cell lymphoproliferative disorder driven by Esptein-Barr virus (EBV) that most commonly affects the lungs, although extra pulmonary sites like the central nervous system, skin, liver and kidney can also be involved. It is microscopically characterized by an angiocentric and angiodestructive growth pattern, predominantly composed by small T-cells, although a smaller population of atypical large B-cells is considered the true neoplastic component. Oral cavity involvement of LYG has rarely been described and the diagnosis of this neoplasm is very difficult...
March 14, 2018: Head and Neck Pathology
Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi
Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. The disease is often accompanied by pain, asymmetry and skeletal malformations, including forearm and leg bending deformities, limb length discrepancies, and knee internal and external rotation abnormalities...
April 2018: Oncology Letters
Alessia Bramanti, Ernesto D'Aloja, Federico Cabras, Pasquale Paribello, Maria Francesca Moro, Jutta Lindert, Mauro Giovanni Carta
Introduction: Two main demographic phenomena have substantially changed the condition of elderly: the growth of the urban population and the increase in longevity. Objective: The aim of the present review is to investigate how the elderly living in the cities perceive the sense of insecurity compared to those who reside in rural areas, and their Quality of Life (QoL). Method: Studies published from January 2011 to August 2017 were identified on Google and PubMed combining the following terms: "elderly urban/rural QoL" or "old age urban/rural QoL"...
2018: Clinical Practice and Epidemiology in Mental Health: CP & EMH
Joachim Woelfle, Anders Lindberg, Ferah Aydin, Ken K Ong, Cecilia Camacho-Hubner, Bettina Gohlke
Background: Whether children with chromosomal disorders of growth and puberty are affected by secular trends (STs) as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses. Objectives: The aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS). Study design: Retrospective analysis of KIGS data (Pfizer International Growth Database)...
2018: Frontiers in Endocrinology
Jakob R Passweg, Helen Baldomero, Peter Bader, Grzegorz W Basak, Chiara Bonini, Rafael Duarte, Carlo Dufour, Nicolaus Kröger, Jürgen Kuball, Arjan Lankester, Silvia Montoto, Arnon Nagler, John A Snowden, Jan Styczynski, Mohamad Mohty
Hematopoietic cell transplantation (HCT) is an established procedure for acquired and congenital disorders of the hematopoietic system. In 2016, there was a tendency for continued activity in this field with 43,636 HCT in 39,313 patients [16,507 allogeneic (42%), 22,806 autologous (58%)] reported by 679 centers in 49 countries in 2016. The main indications were myeloid malignancies 9547 (24%; 96% allogeneic), lymphoid malignancies 25,618 (65%; 20% allogeneic), solid tumors 1516 (4%; 2% allogeneic), and non-malignant disorders 2459 (6%; 85% allogeneic)...
March 14, 2018: Bone Marrow Transplantation
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