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Approach to short stature

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https://www.readbyqxmd.com/read/29758562/clinical-relevance-of-systematic-phenotyping-and-exome-sequencing-in-patients-with-short-stature
#1
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B Ekici, Anita Rauch, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Christian T Thiel
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29741626/functional-analysis-of-a-hypomorphic-allele-shows-that-mmp14-catalytic-activity-is-the-prime-determinant-of-the-winchester-syndrome-phenotype
#2
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here, we report a novel hypomorphic MMP14 p.Arg111His (R111H) allele, associated with a mitigated form of WS. Functional analysis demonstrated that this mutation, in contrast to previously reported human and murine MMP14 mutations, does not affect MMP14's transport to the cell membrane...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29699389/a-synopsis-on-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#3
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Results: Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
April 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29581727/reference-gene-identification-for-reliable-normalisation-of-quantitative-rt-pcr-data-in-setaria-viridis
#4
Duc Quan Nguyen, Andrew L Eamens, Christopher P L Grof
Background: Quantitative real-time polymerase chain reaction (RT-qPCR) is the key platform for the quantitative analysis of gene expression in a wide range of experimental systems and conditions. However, the accuracy and reproducibility of gene expression quantification via RT-qPCR is entirely dependent on the identification of reliable reference genes for data normalisation. Green foxtail ( Setaria viridis ) has recently been proposed as a potential experimental model for the study of C4 photosynthesis and is closely related to many economically important crop species of the Panicoideae subfamily of grasses, including Zea mays (maize), Sorghum bicolor (sorghum) and Sacchurum officinarum (sugarcane)...
2018: Plant Methods
https://www.readbyqxmd.com/read/29546874/growth-hormone-past-present-and-future
#5
REVIEW
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)...
May 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29493124/for-debate-combination-growth-hormone-and-insulin-like-growth-factor-i-therapy-for-childhood-growth-disorders-prime-time-or-too-much-dime
#6
Mitchell E Geffner
Although metabolic outcomes may be aided by dual therapy with GI and IGF-I, the one published study of the combination approach to treat children with non-GH-deficient short stature showed only a meager additional height response compared to that achieved with GH alone.
March 2018: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/29464228/growth-disorders-in-adolescents
#7
Tashunka Taylor-Miller, Peter J Simm
BACKGROUND: Growth is one of the fundamental processes of adolescent development. Careful history and examination, and relevant tar-geted investigations, can streamline the referral process, highlighting the important role of primary healthcare clinicians. OBJECTIVE: This article will provide a guide for clinicians to categorise growth patterns in adolescents, and recognise patients who may have a growth disorder. It will assist clinicians in considering appropriate investigations, and provide guidance for when to refer the adolescent to appropriate paediatric specialists...
December 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29432562/loss-of-function-and-gain-of-function-mutations-in-ppp3ca-cause-two-distinct-disorders
#8
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto
Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA). Notably, mutations were observed in different functional domains: in addition to three catalytic domain mutations, two missense mutations were found in the auto-inhibitory (AI) domain. One additional frameshift insertion that caused premature termination was also identified...
April 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29397377/a-genetic-approach-to-evaluation-of-short-stature-of-undetermined-cause
#9
REVIEW
Philip G Murray, Peter E Clayton, Steven D Chernausek
Short stature is a common presentation to paediatric endocrinologists. After exclusion of major endocrine or systemic disease, most children with short stature are diagnosed based on a description of their growth pattern and the height of their parents (eg, familial short stature). Height is a polygenic trait and genome-wide association studies have identified many of the associated genetic loci. Here we review the application of genetic studies, including copy number variant analysis, targeted gene panels, and whole-exome sequencing in children with idiopathic short stature...
January 31, 2018: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29387899/qtl-seq-based-genetic-analysis-identifies-a-major-genomic-region-governing-dwarfness-in-rice-oryza-sativa-l
#10
Gopalakrishnamurty Kadambari, Lakshminarayana R Vemireddy, Akkareddy Srividhya, Ranjithkumar Nagireddy, Siddhartha Swarup Jena, Mahendranath Gandikota, Santosh Patil, Roja Veeraghattapu, D A K Deborah, G Eswar Reddy, Maliha Shake, Aleena Dasari, P V Ramanarao, Ch V Durgarani, C N Neeraja, E A Siddiq, Maganti Sheshumadhav
A major dwarfing region for plant height, asd1, was identified employing the next-generation sequencing-based QTL-Seq approach from a dwarf mutant and is demonstrated to be responsible for the dwarf nature with least penalty on yield in rice. The yield plateauing of modern rice is witnessed since many decades due to the narrow genetic base owing to the usage of a single recessive gene, i.e., semi-dwarf-1 (sd-1) for development of short-statured varieties throughout the world. This calls for the searching of alternate sources for short stature in rice...
April 2018: Plant Cell Reports
https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#11
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
#12
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
#13
Ignacio Ortea, Isabel Ruiz-Sánchez, 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...
March 20, 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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