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Pediatric Endocrinology Reviews: PER

Jaime Guevara-Aguirre, Enrique Terán, Ron Rosenfeld
No abstract text is available yet for this article.
December 2017: Pediatric Endocrinology Reviews: PER
Michael Saminsky
BACKGROUND: Dental caries and periodontal disease are the most common oral diseases. Their link to disorders of endocrine system is of high interest. Most of the available data relates to the adult population, though its importance among children and adolescents is paramount. OBJECTIVE: To review the existing evidence examining the link between these clinical conditions among children and adolescents. DATA SOURCES: Electronic bibliographic databases and hand searches of relevant publications, based on prepared list of relevant key-words was performed...
December 2017: Pediatric Endocrinology Reviews: PER
Noman Ahmad, Jean-Pierre Chanoine
The Arab societies have the highest prevalence of consanguineous marriages; this results in an increased incidence of autosomal recessive conditions. There are different trends of family marriages across the globe and also the teachings of major religions differ from each other. The culture of family marriages is no more limited in any specific part of world due to rapid and mass migration of people secondary to wars or economic reasons. The endocrine conditions are relatively less discussed in the medical literature as well as in genetic counselling programs...
December 2017: Pediatric Endocrinology Reviews: PER
Roberto X Calix, Sara Ornaghi, Jean H Wilson, Nelson Fernandez, Francois Vialard, Eytan R Barnea, Michael J Paidas
The earliest stages of pregnancy are marked by countless changes in the maternal environment. A specific coordination of activity is required for a successful pregnancy, starting early in the menstrual cycle. Early establishment of maternal-fetal crosstalk is critical for the progression of pregnancy. Many factors, both maternal and fetal derived, play specific and important roles immediately following fertilization, through implantation and beyond. Here we present a review of some of the key factors involved with a focus on PreImplantation Factor (PIF), a small peptide secreted only by competent embryos, which carries an important role required for pregnancy progression...
December 2017: Pediatric Endocrinology Reviews: PER
Inderpal Pal Singh Kochar, Smita Ramachandran, Aashish Sethi
Polycystic ovarian syndrome (PCOS) is one of the most common endocrine disorders in adolescent girls and often over or under-diagnosed due to common features with normal puberty. Metformin an insulin sensitizer has been widely used in adult PCOS with benefits but the studies in adolescents are few. This use in adults has been translated to use in adolescents and we have done a review of these studies of metformin in adolescent PCOS and reported its use in weight reduction and hyperandrogenism.
December 2017: Pediatric Endocrinology Reviews: PER
Anna Neyman, Erica A Eugster
The most common endocrinopathy associated with McCune-Albright Syndrome (MAS) is peripheral precocious puberty (PP) which occurs far more often in girls than in boys. We will discuss the latest advancements in the treatment of precocious puberty in MAS that have been achieved during the past 10 years. However, due to the rarity of the condition and the heterogeneity of the disease, research in this field is limited particularly in regards to treatment in boys. In girls, a period of watchful waiting is recommended prior to initiating therapy due to extreme variability in the clinical course...
December 2017: Pediatric Endocrinology Reviews: PER
Otfrid Butenandt
Herewith a definition of constitutional delay of growth and puberty shall be given. Whereas constitutional delay of growth and puberty is a hereditary variant of normal growth and development occurring in both sexes and is irrelevant to the familial height, non-constitutional delay is secondary to a variety of underlying disorders like chronic diseases, malnutrition, persistence of psychologic problems or hormonal anomalies. Constitutional delay occurs in boys and girls and will end in normal final height within the familial height range...
December 2017: Pediatric Endocrinology Reviews: PER
Heike Hoyer-Kuhn, Christina Stark, Jeremy Franklin, Eckhard Schoenau, Oliver Semler
Osteogenesis imperfecta (OI) is a rare hereditary skeletal disease leading to recurrent fractures, short stature and impaired mobility. The phenotype varies from mildly affected patients to perinatal lethal forms. In most cases an impaired collagen production due to mutations in COL1A1 or COL1A2 cause this hereditary bone fragility syndrome with an autosomal dominant inheritance. Currently an interdisciplinary therapeutic approach with antiresorptive drugs, physiotherapy and surgical procedures is the state of the art therapy...
November 2017: Pediatric Endocrinology Reviews: PER
Michele Cagnoli, Roland Richter, Peter Böhm, Kathrin Knye, Susann Empting, Klaus Mohnike
Whereas nutritional vitamin D deficient rickets affects many people world-wide, X-linked hypophosphatemic rickets (XLH, MIM 307800) has a prevalence of only 1:25.000. Like other rare diseases burden of disease in XLH and the effect of the current standard of care are inadequately described. Only few height data of untreated patients with XLH have been published. Here we report on height before start of therapy of 127 patients with XLH from 49 centres. One investigator collected all data from patient files documented at regular visits by treating physicians...
November 2017: Pediatric Endocrinology Reviews: PER
Stefanie Witt, Anja Rohenkohl, Monika Bullinger, Rachel Sommer, Sabine Kahrs, Karl-Heinz Klingebiel, Ruzena Klingebiel, Julia Quitmann
Achondroplasia (ACH) is a rare, genetically determined health condition. Patients suffer from disproportional short stature and multiple physical and functional impairments as well as socioemotional problems. Despite the burden of disease, only few studies focus on health-related quality of life (HrQoL) of young ACH patients. In a series of studies, the BKMF e.V. in cooperation with the UKE studied ACH patients' and parents' experience of HrQoL, their responses to HrQoL questionnaires and their evaluation of a HrQoL based intervention...
November 2017: Pediatric Endocrinology Reviews: PER
Bernhard Zabel, Jürgen Spranger
The official nosology and classification of genetic skeletal disorders lists more than 500 recognized diagnostic entities and groups them by clinical, radiographic and - if available - molecular data. The list helps in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists. It can be the basis of a nosology-guided skeletal dysplasia registry and archive. An archive using a slightly modified classification system has been established in Magdeburg/Germany...
November 2017: Pediatric Endocrinology Reviews: PER
Jennifer B Salem, Irène Netchine, Madeleine D Harbison
Patient-support organizations can facilitate a significant change in the way rare disorders are approached. Besides connecting families with each other and directing patients to experienced medical specialists, these groups, by collaborating with government initiatives like COST, can effect the direction and funding of rare disease research. By concentrating the rare disease patient population and funneling them to specific centers of excellence, these organizations help build specialists' experience and their study populations...
November 2017: Pediatric Endocrinology Reviews: PER
Agnès Linglart, Giovanna Mantovani, Intza Garin, Alessia Usardi, Francesca Marta Elli, Guiomar Perez de Nanclares
Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. The creation of networks both for specialists (including endocrinologists, pediatricians, dermatologists, geneticists, molecular biologists…) and patients support groups brings up the opportunity of research advance, synergism and common objectives for families and investigators, improving the quality of information about the disease and its outcome, that, at the end, will improve both the knowledge and life of the patients and their families...
November 2017: Pediatric Endocrinology Reviews: PER
Hartmut A Wollmann, Michael B Ranke
Silver-Russell syndrome (SRS) is a rare congenital disorder, characterized by a wide spectrum of signs and symptoms, which vary significantly between affected individuals. The understanding of the genetic basis of the phenotype has advanced greatly during the past decades. Together with the typical clinical picture intrauterine growth retardation and severe short stature are the key features. Failure to thrive in conjunction with frequent feeding problems in infancy and early childhood are a major challenge for the parents...
November 2017: Pediatric Endocrinology Reviews: PER
Mischa Henze
Each year the annual convention for people with restricted growth predominantly due to skeletal dysplasia, a 4-day event, is taking place in the middle of Germany with more than 600 participants and speakers. Beside an outstanding leisure program for kids and families, the meeting enclose workshops on various topics, including legal, social and medical aspects. Participants are children, adolescents and adults with restricted growth with different diagnoses and professionals. Apart from the organized workshops the focus has always been on the direct exchange between participants...
November 2017: Pediatric Endocrinology Reviews: PER
Patricia Carl, Julika Innig, Marco Frerichs
In this article two short statured young women talk about their particular challenges when growing up. To be short means, you are always the centre of attention with advantages and disadvantages. At the age of 30 years both resumed, it balances itself out. Attention may be positive but is sometimes exhausting and offending to always be the middle of attention. In order to cope with today's achievement-orientated society BKMF e.V. developed for children and adolescents with restricted growth a structured program how to cope with the challenges and barriers of today's life...
November 2017: Pediatric Endocrinology Reviews: PER
Ruzena Klingebiel, Karl-Heinz Klingebiel
Advocacy, information and psychosocial support have been the key aims of the German Association of Short-Statured People and their Families (BKMF e.V.) since its establishment and development as a self-help organization from the late 1980s on. Since then, members and supporters have striven over around three decades for a fulfilled and self-determined life for people affected by short stature and for their equal participation in society. From the very beginning, communication and collaboration with professionals from medicine and other disciplines, with industry players and policy makers as well as with other self-help organizations were key activities of the Association...
November 2017: Pediatric Endocrinology Reviews: PER
Gal Dubnov-Raz, Jürgen M Steinacker, Yonit Marcus, Konstantina Dipla, Dror Dicker, Jay R Hoffman, Ilan Shimon, Yona Greenman, Liana Tripto-Shkolnik, Dania Hirsch, Assaf Buch, Mickey Arieli, Naama W Constantini
No abstract text is available yet for this article.
September 2017: Pediatric Endocrinology Reviews: PER
John J Kopchick, Gudmundur Johannsson
No abstract text is available yet for this article.
September 2017: Pediatric Endocrinology Reviews: PER
Seema Jain, Sara Akhtar, Marwan Bakhach, Johanna M Viau-Colindres
No abstract text is available yet for this article.
September 2017: Pediatric Endocrinology Reviews: PER
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