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Turner and prader willy

Venkataswamy Eshwarachary, Priya Kadam, Sireesha Movva, Shruthi Lingaiah, Riyaz M Akther, Franics X Kidangan, Kiran C Gowda, Rudra R K Golakoti, Meena Lall, Surbhi Mahajan, Pushpa Saviour, Ratna Puri, Ishwar C Verma, Ramprasad L Vedam
INTRODUCTION: Non invasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only if there is complete loss of X chromosome...
May 24, 2018: Journal of Maternal-fetal & Neonatal Medicine
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
Juan Pedro López-Siguero, Margarida Palla García, Elena Martínez Busto, Francisco José Rebollo, Manuel Pombo
INTRODUCTION: Recombinant human growth hormone (rhGH) is the first biosimilar drug approved by the European Medicines Agency in 2006, using the biosimilar registration process. It was authorised for the treatment of growth hormone deficiency, and growth disorders associated with Turner's syndrome, chronic renal failure, Prader-Willi syndrome, and growth disorders in children/adolescents born small for gestational age, and replacement therapy in adults with pronounced growth hormone deficiency...
April 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
A Morel, C Demily
Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Yoshikazu Nishi, Toshiaki Tanaka
We compiled the major adverse events included in the Annual Research Reports of the Foundation for Growth Research published in and after 2000. We conducted a review of approximately 32,000 patients treated with growth hormone (GH) who subsequently developed leukemia and who were registered with the Foundation for Growth Research (from 1975 to December 31 1997). We performed a literature review and found that GH therapy was not associated with leukemia onset in patients with no risk factors for leukemia. We also reported the onset of diabetes mellitus (DM), scoliosis, and respiratory problems in patients with Prader-Willi syndrome who were treated with GH...
March 2017: Pediatric Endocrinology Reviews: PER
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
Lorenzo Iughetti, Gianluca Tornese, Maria Elisabeth Street, Flavia Napoli, Claudia Giavoli, Franco Antoniazzi, Stefano Stagi, Caterina Luongo, Sara Azzolini, Letizia Ragusa, Gianni Bona, Clara Zecchino, Tommaso Aversa, Luca Persani, Laura Guazzarotti, Emiliano Zecchi, Alberto Pietropoli, Stefano Zucchini
BACKGROUND: PATRO Children is an ongoing observational, longitudinal, non-interventional, global post-marketing surveillance study, which is investigating the long-term safety and effectiveness of Omnitrope®, a somatropin biosimilar to Genotropin®, in children with growth disturbances. The primary endpoint of PATRO Children is long-term safety and the secondary endpoint is effectiveness, which is assessed by analysing auxological data such as height (HSDS) and height velocity (HVSDS) standard deviation scores...
November 3, 2016: Italian Journal of Pediatrics
Anita Hokken-Koelega, Aart-Jan van der Lely, Berthold Hauffa, Gabriele Häusler, Gudmundur Johannsson, Mohamad Maghnie, Jesús Argente, Jean DeSchepper, Helena Gleeson, John W Gregory, Charlotte Höybye, Fahrettin Keleştimur, Anton Luger, Hermann L Müller, Sebastian Neggers, Vera Popovic-Brkic, Eleonora Porcu, Lars Sävendahl, Stephen Shalet, Bessie Spiliotis, Maithé Tauber
OBJECTIVE: Seamless transition of endocrine patients from the paediatric to adult setting is still suboptimal, especially in patients with complex disorders, i.e., small for gestational age, Turner or Prader-Willi syndromes; Childhood Cancer Survivors, and those with childhood-onset growth hormone deficiency. METHODS: An expert panel meeting comprised of European paediatric and adult endocrinologists was convened to explore the current gaps in managing the healthcare of patients with endocrine diseases during transition from paediatric to adult care settings...
November 2016: Endocrine Connections
Greisa Vila, Alois W Gessl, Michaela Riedl, Anton Luger
Numerous endocrine diseases are associated with impaired glucose metabolism and can induce diabetes mellitus. With the exception of hyperthyroidism, where this is uncommon, these diseases are rare. Acromegaly and Cushing syndrome are frequently associated with impaired glucose tolerance and diabetes. In contrast, this is a rare finding in pheochromocytoma and Conn syndrome. Among the many drugs that can induce diabetes this can be observed most frequently with hormones, atypic antipsychotic drugs and immunosuppressives...
April 2016: Wiener Klinische Wochenschrift
Nicholas A Tritos, Anne Klibanski
PURPOSE: Describe the effects of growth hormone (GH) and insulin-like growth factor 1 (IGF-1) on the skeleton. FINDINGS: The GH and IGF-1 axis has pleiotropic effects on the skeleton throughout the lifespan by influencing bone formation and resorption. GH deficiency leads to decreased bone turnover, delayed statural growth in children, low bone mass, and increased fracture risk in adults. GH replacement improves adult stature in GH deficient children, increases bone mineral density (BMD) in adults, and helps to optimize peak bone acquisition in patients, during the transition from adolescence to adulthood, who have persistent GH deficiency...
2016: Progress in Molecular Biology and Translational Science
Marzieh Savari, Sayyed Hamid Zarkesh Esfahani, Masoud Edalati, Davoud Biria
Human growth hormone (hGH) is synthesized and stored by somatotroph cells of the anterior pituitary gland and can effect on body metabolism. This protein can be used to treat hGH deficiency, Prader-Willi syndrome and Turner syndrome. The limitations in current technology for soluble recombinant protein production, such as inclusion body formation, decrease its usage for therapeutic purposes. To achieve high levels of soluble form of recombinant human growth hormone (rhGH) we used suitable host strain, appropriate induction temperature, induction time and culture media composition...
October 2015: Protein Expression and Purification
Stefano Stagi, Chiara Iurato, Elisabetta Lapi, Loredana Cavalli, Maria Luisa Brandi, Maurizio de Martino
More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome...
January 2015: Hormones: International Journal of Endocrinology and Metabolism
Darius J Adams, David A Clark
Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomalies allows for prompt initiation of early intervention services to maximize the potential of every individual as they grow older. Although many of these conditions are rare, keeping them in mind can have a profound impact on the clinical course of affected individuals...
April 2015: Pediatric Clinics of North America
Lesley Turner, Anne Gregory, Laurie Twells, Deborah Gregory, Dimitri J Stavropoulos
BACKGROUND: The most common monogenic form of obesity is caused by mutations in the melanocortin 4 receptor (MC4R) gene. More than 150 mutations have been reported in the MC4R gene, the majority being point mutations. Most individuals with MC4R gene mutations have early-onset obesity, hyperphagia, and increased longitudinal growth. METHODS: A 9-year-old Caucasian boy was referred to genetics for obesity, food-seeking behavior, and developmental delay. History and physical exam were not consistent with Prader Willi syndrome, but revealed several minor anomalies...
April 2015: Childhood Obesity
Sandro Loche, Luisanna Carta, Anastasia Ibba, Chiara Guzzetti
Until 1985 growth hormone (GH) was obtained from pituitary extracts, and was available in limited amounts only to treat severe growth hormone deficiency (GHD). With the availability of unlimited quantities of GH obtained from recombinant DNA technology, researchers started to explore new modalities to treat GHD children, as well as to treat a number of other non-GHD conditions. Although with some differences between different countries, GH treatment is indicated in children with Turner syndrome, chronic renal insufficiency, Prader-Willi syndrome, deletions/mutations of the SHOX gene, as well as in short children born small for gestational age and with idiopathic short stature...
March 2014: Annals of Pediatric Endocrinology & Metabolism
Thomas Reinehr, Anders Lindberg, Maria Koltowska-Häggström, Michael Ranke
OBJECTIVE: Growth hormone (GH) increases lean body mass and reduces fat mass. However, the long-term changes in weight status during growth hormone treatment, according to age and weight status at onset of treatment, have not previously been reported in large data sets. METHODS: Changes in BMI-SDS between starting GH treatment and attaining near adult height (NAH) were analysed in 2643 children with idiopathic GH deficiency (IGHD), 281 children small for gestational age (SGA), 1661 girls with Turner syndrome (TS), and 142 children with Prader-Willi syndrome (PWS) in the KIGS database...
November 2014: Clinical Endocrinology
Marie-Anne Burckhardt, Urs Zumsteg
Growth Hormone therapy has been used therapeutically for over 50 years. Until recently, growth hormone therapy has been restricted for children and adolescents with proven hypothalamic-pituitary short stature. Today some other causes - but not all - can be treated with growth hormone. To the well-established indications belong apart from proven growth hormone deficiency, children with Turner Syndrome and with Prader Willi Syndrome, children born small for gestational age without catch-up growth and children with chronic kidney disease and with some haematological and oncological diseases...
June 19, 2013: Praxis
Sara A Divall, Sally Radovick
The availability of recombinant human growth hormone (rGH) for treatment of growth disorders has provided an unlimited supply for replacement in patients with growth hormone insufficiency but also for short stature due to Turner syndrome, renal failure, Prader-Willi syndrome, small for gestational age and idiopathic short stature. Considering the potential for side effects in the use of a growth promoting agent, the community of physicians and pharmaceutical manufacturers developed systematic methods to survey for short and long term effects...
June 1, 2013: Current Pediatrics Reports
Ignacio Bergadá
Growth hormone treatment for children and adolescents with growth disorders has been used for more than five decades. Since 1985 recombinant human growth hormone (rhGH) is the only drug approved for treatment. In most of the countries rhGH is licensed for the treatment of children with growth hormone deficiency, Turner syndrome, Prader-Willi syndrome, chronic renal failure, and children born small for gestational age. The objective of the treatment is to improve the growth of these patients. The efficacy of rhGH treatment based on auxologic parameters has shown that growth response is variable and mostly dependent on each particular indication...
2013: Medicina
Bess M Flashner, Mark E Russo, Jenine E Boileau, Derek W Leong, G Ian Gallicano
Autism is a complex neurodevelopmental disorder that has significant phenotypic overlap with several diseases, many of which fall within the broader category of autism spectrum disorders (ASDs). The etiology of the disorder is unclear and seems to involve a complex interplay of polygenic as well as environmental factors. We discuss evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism. Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN...
June 2013: Neuromolecular Medicine
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