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Approach to short stature

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https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#1
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29323153/skeletal-characterization-of-the-fgfr3-mouse-model-of-achondroplasia-using-micro-ct-and-mri-volumetric-imaging
#2
Mohammed Salman Shazeeb, Megan K Cox, Anurag Gupta, Wen Tang, Kuldeep Singh, Cynthia T Pryce, Robert Fogle, Ying Mu, William D Weber, Dinesh S Bangari, Xiaoyou Ying, Yves Sabbagh
Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. The characterization of these preclinical models has been primarily done with 2D measurements...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29317355/identification-of-candidate-serum-biomarkers-of-childhood-onset-growth-hormone-deficiency-using-swath-ms-and-feature-selection
#3
Ignacio Ortea, Isabel Ruíz, Ramón Cañete, Javier Caballero-Villarraso, María Dolores Cañete
A typical clinical manifestation of growth hormone deficiency (GHD) is a short stature resulting from delayed growth, but GHD affects bone health, cardiovascular function and metabolic profile and therefore quality of life. Although early GH treatment during childhood has been shown to improve outcomes, no single biochemical parameter is currently available for the accurate diagnosis of GHD in children. There is hence a need for non-invasive biomarkers. In this study, the relative abundance of serum proteins from GHD children and healthy controls was measured by next-generation proteomics SWATH-MS technology...
January 6, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29259966/x-linked-hypophosphatemic-rickets-del-2-q37-1-q37-3-deletion-syndrome-and-mosaic-turner-syndrome-mos-45-x-46-x-del-2-q37-1-q37-3-in-a-3-year-old-female
#4
Alaina P Vidmar, Brian Miyazaki, Pedro A Sanchez-Lara, Pisit Pitukcheewanont
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion syndrome overlap, the correct diagnosis may be missed without a standardized approach to genetic testing consisting of both karyotype and microarray. Both chromosome anomalies have been associated with short stature and a variety of skeletal abnormalities however to date no reports have associated these syndromes in association with a phosphate regulating endopeptidase homolog, X-linked (PHEX) gene deletion resulting in XLH...
November 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/29209274/optimizing-patient-management-and-adherence-for-children-receiving-growth-hormone
#5
Carlo L Acerini, Katarzyna Wac, Peter Bang, Dagmar Lehwalder
Poor adherence with growth hormone (GH) therapy has been associated with worse clinical outcomes, which in children relates specifically to their linear growth and loss of quality of life. The "360° GH in Europe" meeting, held in Lisbon, Portugal, in June 2016 and funded by Merck KGaA (Germany), examined many aspects of GH diseases. The three sessions, entitled "Short Stature Diagnosis and Referral," "Optimizing Patient Management," and "Managing Transition," each benefited from three guest speaker presentations, followed by an open discussion and are reported as a manuscript, authored by the speakers...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29177599/obesity-in-children-definition-etiology-and-approach
#6
REVIEW
Bhawana Aggarwal, Vandana Jain
Childhood obesity is an important public health issue worldwide. Urbanization, sedentary lifestyle and change in food habits are the chief reasons behind this pandemic. In a small proportion of children, obesity is the result of endocrine, syndromic or monogenic causes. The present paper summarizes the methods, definitions and cut-offs for identification of obesity in children. We have briefly reviewed the various techniques used for estimation of body fat in children and the cut-offs for defining obesity based on body fat percentage, and the reference curves based on body mass index and waist circumference...
November 25, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29135488/endocrine-manifestations-of-down-syndrome
#7
Rachel Whooten, Jessica Schmitt, Alison Schwartz
PURPOSE OF REVIEW: To summarize the recent developments in endocrine disorders associated with Down syndrome. RECENT FINDINGS: Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures...
February 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29044077/ophthalmic-manifestations-in-rothmund-thomson-syndrome-case-report-and-review-of-literature
#8
REVIEW
J T Chinmayee, G R Meghana, R K Prathiba, T K Ramesh
A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28981462/gh-igf-1-signaling-and-current-knowledge-of-epigenetics-a-review-and-considerations-on-possible-therapeutic-options
#9
REVIEW
Francisco Álvarez-Nava, Roberto Lanes
Epigenetic mechanisms play an important role in the regulation of the Growth Hormone- Insulin-like Growth Factor 1 (GH-IGF1) axis and in processes for controlling long bone growth, and carbohydrate and lipid metabolism. Improvement of methodologies that allow for the assessment of epigenetic regulation have contributed enormously to the understanding of GH action, but many questions still remain to be clarified. The reversible nature of epigenetic factors and, particularly, their role as mediators between the genome and the environment, make them viable therapeutic target candidates...
October 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28949040/a-modern-green-revolution-gene-for-reduced-height-in-wheat
#10
Tobias Würschum, Simon M Langer, C Friedrich H Longin, Matthew R Tucker, Willmar L Leiser
Increases in the yield of wheat during the Green Revolution of the late 20(th) century were achieved through the introduction of Reduced height (Rht) dwarfing genes. The Rht-B1 and Rht-D1 loci ensured short stature by limiting the response to the growth-promoting hormone gibberellin, and are now widespread through international breeding programs. Despite this advantage, interference with the plant's response to gibberellin also triggers adverse effects for a range of important agronomic traits, and consequently modern Green Revolution genes are urgently required...
September 26, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28911022/hypertensive-cardiovascular-risk-pulsatile-hemodynamics-gender-and-therapeutic-implications
#11
Michel E Safar, Harold Smulyan
PURPOSE: In recent years, the predictive value of 2 pulsatile parameters has been extensively studied in hypertension: aortic stiffness and pulse pressure (PP) amplification. Aortic stiffness is an index of aortic rigidity and PP-amplification is the ratio between central and brachial PP, an indirect evaluation of wave reflections. Both are safe, independent, noninvasive predictors of overall and cardiovascular risk. Our purpose is to determine the validity of these parameters in 2 different circumstances: gender and therapeutic implications...
October 1, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28895531/genetic-identification-of-a-common-collagen-disease-in-puerto-ricans-via-identity-by-descent-mapping-in-a-health-system
#12
Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli Ea Stahl, Judy H Cho, Ruth Jf Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic BioMe biobank in New York City. By linking to medical records, we discover a locus associated with both elevated genetic relatedness and extreme short stature...
September 12, 2017: ELife
https://www.readbyqxmd.com/read/28843469/a-genotype-first-approach-for-clinical-and-genetic-evaluation-of-wolcott-rallison-syndrome-in-a-large-cohort-of-iranian-patients-with-neonatal-diabetes
#13
Farzaneh Abbasi, Maryam Habibi, Samaneh Enayati, Fatemeh Bitarafan, Maryam Razzaghy-Azar, Aria Sotodeh, Sima Parvizi Omran, Reza Maroofian, Mahsa M Amoli
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3). METHODS: As part of a comprehensive study on clinical and genetic investigation of neonatal diabetes in an Iranian population, 60 unrelated Iranian subjects referred with PNDM were analyzed...
August 23, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28825592/the-evaluation-of-cases-with-y-chromosome-gonadal-dysgenesis-clinical-experience-for-18-years
#14
Merih Berberoğlu, Zeynep Şıklar
OBJECTIVE: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis, which may consist heterogenous symptoms. They are phenotypically classified into 2 groups as complete and partial; while karyotypic description was as 46,XY GD and 45,X/46,XY GD. METHODS: Thirty eight cases were followed-up between 1998 and 2016. The age of admission were within 0 to 17,16 decimal years. Clinical and laboratory findings as well as follow-up characteristics of cases were evaluated retrospectively from the patient reports...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#15
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#16
REVIEW
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28675583/experiencing-health-related-quality-of-life-in-paediatric-short-stature-a-cross-cultural-analysis-of-statements-from-patients-and-parents
#17
Rachel Sommer, Monika Bullinger, John Chaplin, Ju-Ky Do, Mick Power, Andreas Pleil, Julia Quitmann
OBJECTIVES: Direct assessment of the patient perspective is necessary to thoroughly understand patients' experiences of disease. We aimed to examine information from children with short stature on their perceived HrQoL within 5 European countries. METHODS: Patients, identified through clinical databases, were approached by their clinicians according to the inclusion criteria regarding a diagnosis of growth hormone deficiency or idiopathic short stature and age requirements...
July 4, 2017: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28661490/mutations-in-c-natriuretic-peptide-nppc-a-novel-cause-of-autosomal-dominant-short-stature
#18
Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F A Funari, Carolina Bezanilla-López, Marta Alonso-Bernáldez, Jimena Barraza-García, Maria Rodriguez-Zabala, Antonio M Lerario, Sara Benito-Sanz, Miriam Aza-Carmona, Angel Campos-Barros, Alexander A L Jorge, Karen E Heath
PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide precursor-C (NPPC) and natriuretic peptide receptor 2 (NPR2) genes, respectively. While NPR2 mutations have been described in patients with skeletal dysplasias and idiopathic short stature (ISS), and several Npr2 and Nppc skeletal dysplasia mouse models exist, no mutations in NPPC have been described in patients to date...
June 29, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28619408/children-crossing-streets-the-cognitive-task-of-pedestrians-across-nations
#19
David C Schwebel
BACKGROUND: About 100,000 children die worldwide in pedestrian crashes, more than 90% of whom live in low- and middle-income countries (LMICs). However, most existing research on children's ability to cross the street is conducted in high-income countries (HICs). OBJECTIVE: The present study discusses 4 ways pedestrian behavior in LMICs differs from that in HICs, influencing both children's ability to cross streets safely and adult efforts to train children in pedestrian safety...
March 2017: Annals of Global Health
https://www.readbyqxmd.com/read/28576543/pycnodysostosis-at-otorhinolaryngology
#20
Tekin Baglam, Adem Binnetoglu, Muhammet Fatih Topuz, Nilay Baş Ikizoglu, Refika Ersu, Serap Turan, Murat Sarı
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis...
April 2017: International Journal of Pediatric Otorhinolaryngology
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