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"Idiopathic Short Stature"

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https://www.readbyqxmd.com/read/29905027/increased-risk-of-bone-tumors-after-growth-hormone-treatment-in-childhood-a-population-based-cohort-study-in-france
#1
Amélie Poidvin, Jean-Claude Carel, Emmanuel Ecosse, Dominique Levy, Jean Michon, Joël Coste
The association between growth hormone (GH) treatment and cancer risk has not been thoroughly evaluated and there are questions about any increased risk of bone tumors. We examined cancer risk and especially bone tumor risk in a population-based cohort study of 6874 patients treated with recombinant GH in France for isolated GH deficiency, short stature associated with low birth weight or length or idiopathic short stature. Adult mortality and morbidity data obtained from national databases and from questionnaires...
June 14, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29789791/association-between-insulin-like-growth-factor-1-and-uric-acid-in-chinese-children-and-adolescents-with-idiopathic-short-stature-a-cross-sectional-study
#2
Panpan Wang, Baolan Ji, Qian Shao, Mei Zhang, Bo Ban
Objective: The aim of this study was to examine the relationship between insulin-like growth factor-1 (IGF-1) and serum uric acid (UA) in Chinese children and adolescents with idiopathic short stature (ISS). Methods: A cross-sectional study of 91 Chinese children and adolescents with ISS was performed. Anthropometric measurements and biochemical parameters were tested. The standard deviation score of IGF-1 (IGF-1 SDS) was calculated. Results: A univariate analysis displayed a significant positive correlation between IGF-1 SDS and UA ( P = 0...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29769040/novel-aggrecan-variant-p-gln2364pro-causes-severe-familial-nonsyndromic-adult-short-stature-and-poor-growth-hormone-response-in-chinese-children
#3
Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni, Feihong Luo
BACKGROUND: Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unknown ACAN gene variant reduces adult height and we analyze the GH response in children from an affected large Chinese family. METHODS: Two children initially diagnosed with idiopathic short stature (ISS) and a third mildly short child from a large Chinese family presented with poor GH response...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29748515/growth-hormone-receptor-mutations-related-to-individual-dwarfism
#4
REVIEW
Shudai Lin, Congjun Li, Charles Li, Xiquan Zhang
Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH⁻GHR⁻IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH⁻GHR⁻IGF-1 signal transaction process in the dwarf phenotype...
May 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29714459/microdeletion-and-mutation-analysis-of-the-shox-gene-in-patients-with-idiopathic-short-stature-with-fish-and-sequencing
#5
Abdullatif Bakır, Meral Yirmibeş Karaoğuz, Ferda Emriye Perçin, Esra Tuğ, Peyami Cinaz, Mehmet Ali Ergün
Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short stature (ISS) by the usage of fluorescence in situ hybridization (FISH) and direct sequencing technique. Materials and methods: Thirty-seven children referred to our clinic because of short stature were classified as having ISS after clinical examination. Chromosome analyses, FISH analysis of the SHOX gene, and direct sequencing of the coding exons of SHOX , through the second to the sixth exon, in 24 of the 37 patients were also performed...
April 30, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29706635/functional-missense-and-splicing-variants-in-the-retinoic-acid-catabolizing-enzyme-cyp26c1-in-idiopathic-short-stature
#6
Antonino Montalbano, Lonny Juergensen, Maki Fukami, Christian T Thiel, Nadine H Hauer, Ralph Roeth, Birgit Weiss, Yasuhiro Naiki, Tsutomu Ogata, David Hassel, Gudrun A Rappold
Height is a complex quantitative trait with a high heritability. Short stature is diagnosed when height is significantly below the average of the general population for that person's age and sex. We have recently found that the retinoic acid degrading enzyme CYP26C1 modifies SHOX deficiency phenotypes toward more severe clinical manifestations. Here, we asked whether damaging variants in CYP26C1 alone could lead to short stature. We performed exome and Sanger sequencing to analyze 856 individuals with short stature where SHOX deficiency was previously excluded...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29692759/report-of-a-novel-shox-missense-variant-in-a-boy-with-short-stature-and-his-mother-with-leri-weill-dyschondrosteosis
#7
Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito
Heterozygous mutations in the SHOX gene or in the upstream and downstream enhancer elements are associated with 2-22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri-Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affected. Approximately 80-90% of SHOX pathogenic variants are deletions or duplications, and the remaining 10-20% are point mutations that primarily give rise to missense variants. The clinical interpretation of novel variants, particularly missense variants, can be challenging and can remain of uncertain significance...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29669803/growth-hormone-in-combination-with-leuprorelin-in-pubertal-children-with-idiopathic-short-stature
#8
Imane Benabbad, Myriam Rosilio, Maité Tauber, Emmanuel Paris, Anne Paulsen, Lovisa Berggren, Hiren Patel, Jean-Claude Carel
OBJECTIVE: There is a scarcity of data from randomised controlled trials on the association of growth hormone (GH) with gonadotrophin-releasing hormone agonists in idiopathic short stature (ISS), although this off-label use is common. We aimed to test whether delaying pubertal progression could increase near-adult height (NAH) in GH-treated patients with ISS. METHODS: Patients with ISS at puberty onset were randomised to GH with leuprorelin (combination, n  = 46) or GH alone ( n  = 45)...
May 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29623516/sensitivity-of-supplementation-of-thyroid-hormone-on-treatment-of-idiopathic-short-stature-children-during-therapy-with-recombinant-human-growth-hormone
#9
Wei Wang, Shuqin Jiang, Zhirui Cui, Xiangyang Luo, Lingli Shi, Heli Zheng
This study aimed to evaluate the effects of thyroid hormone supplementation on growth rate of children with idiopathic short stature (ISS) and low-normal serum free thyroxine FT4 who were receiving growth hormone therapy. We selected 64 prepubertal children with FT4 levels in the lowest third of the normal range as the lower FT4 group, and these children were divided randomly into two subgroups: L-thyroxine (L-T4)-treated subgroup was treated with L-T4 (0.5-3.0 g/(kg·d)) from the beginning of the study, and the non-L-T4-treated subgroup received placebo...
April 6, 2018: Frontiers of Medicine
https://www.readbyqxmd.com/read/29609449/design-of-the-long-term-observational-cohort-study-with-recombinant-human-growth-hormone-in-korean-children-lg-growth-study
#10
Sochung Chung, Jae-Ho Yoo, Jin Ho Choi, Young-Jun Rhie, Hyun-Wook Chae, Jae Hyun Kim, Il Tae Hwang, Choong Ho Shin, Eun Young Kim, Kee-Hyoung Lee
PURPOSE: Regarding recombinant human growth hormone (rhGH) use in the pediatric population, no long-term follow-up data are available for Korean patients. To fill in the gap of knowledge, a registry study (LG Growth Study) was initiated to assess the safety and effectiveness of four types of rhGH products in real-life settings. METHODS: A total of 4,000 children will be registered and prospectively followed up at 6-month intervals until 2 years after epiphyseal closure to collect data on treatment and adverse events, with primary interest in malignancies and growth outcomes...
March 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29535946/application-of-chromosomal-microarray-for-evaluation-of-idiopathic-short-stature-in-asian-indian-children-a-pilot-study
#11
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29455392/the-psychometric-evaluation-of-the-quality-of-life-in-short-stature-youth-qolissy-instrument-for-german-children-born-small-for-gestational-age
#12
R Sommer, J Blömeke, M Bullinger, J Quitmann
PURPOSE: This study aimed to validate the disease-specific "quality of life in short stature youth (QoLISSY)-instrument" that assessesQuery the health-related quality of life (HrQoL) in German children and adolescents diagnosed as small for gestational age (SGA) in a patient and parent report. METHODS: The psychometric performance of the German version of the QoLISSY questionnaire was examined in terms of reliability and validity in 65 SGA families (17 child reports/64 parent reports) and compared to the psychometric performance of the original European QoLISSY dataset of over 200 children with growth hormone deficiency and idiopathic short stature (ISS)...
February 17, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29423542/evaluation-of-growth-hormone-response-to-ghrh-plus-arginine-test-in-children-with-idiopathic-short-stature-role-of-peak-time
#13
M Castagno, A Monzani, S Zanetta, G Genoni, E Giglione, R Ricotti, G Bona, F Prodam, S Bellone
PURPOSE: To describe the course of growth hormone response to growth hormone releasing hormone (GHRH) plus arginine provocative test in children with idiopathic short stature (ISS) and to evaluate the role of peak time. METHODS: A retrospective study was performed analyzing 344 GHRH plus arginine provocative tests performed in children and adolescents with short stature. Serum GH levels were measured at four-time points (T0', T30', T45' and T60') and GH peak was defined as the maximum value at any time point...
February 8, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29397377/a-genetic-approach-to-evaluation-of-short-stature-of-undetermined-cause
#14
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/29302920/a-balanced-reciprocal-translocation-t-10-15-q22-3-q26-1-interrupting-acan-gene-in-a-family-with-proportionate-short-stature
#15
M Crippa, S Giangiobbe, R Villa, I Bestetti, T De Filippis, L Fatti, J Taurino, L Larizza, L Persani, F Bellini, P Finelli, M T Bonati
PURPOSE: Few examples of the involvement of a single gene in idiopathic short stature have been described until now. Our aim was to identify the causative gene of proportionate short stature in a large family showing co-segregation of the phenotype with the reciprocal translocation t(10;15)(q22;q24). METHODS: FISH mapping was carried out with BACs and long-range PCR probes to identify the smallest genomic regions harboring the translocation breakpoints. Real-Time RT-PCR was performed in blood after pre-amplification of target genes cDNA...
January 4, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29280742/the-rationale-for-growth-hormone-therapy-in-children-with-short-stature
#16
Annalisa Deodati, Stefano Cianfarani
Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone. This limited supply restricted its use to children with severe GH deficiency who were treated with low dosages and suboptimal schedules. The development of recombinant DNA-derived GH, allowed the production of virtually unlimited amounts of GH, leading to the approval for therapy for a large number of childhood conditions characterized by non-GH deficient short stature...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29218122/effect-of-growth-hormone-on-final-height-in-children-with-idiopathic-short-stature-a-uae-eastern-region-experience
#17
Shireen Mreish, Walid Kaplan, Fares Chedid
Objectives: The use of growth hormone (GH) in idiopathic short stature (ISS) has been a subject of debate for the past two decades. We sought to assess the effect of GH on final height (FH) in patients with ISS in our region, which has a high consanguinity rate, and compare it to the effect observed in GH deficient (GHD) patients. Methods: We conducted a retrospective chart review from 1 January 2005 to 31 December 2013 for patients with ISS or GHD from the local United Arab Emirates population who received GH treatment and were followed-up regularly in our clinic...
November 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29197220/allergic-and-non-allergic-skin-reactions-associated-with-growth-hormone-therapy-elucidation-of-causative-agents
#18
Shilpa Mehta, Vikash Oza, Renee Potashner, Patricia Zamora, Manish Raisingani, Bina Shah
BACKGROUND: Allergic and non-allergic skin reactions to recombinant human growth hormone (rhGH) are uncommon and infrequently reported. However, physicians should be aware of these potential side effects to determine whether the reactions constitute true allergies and how to proceed with growth hormone therapy. To review allergic and non-allergic skin reactions caused by rhGH and subsequent diagnostic workup and management options. CASE PRESENTATION: We report the case of a 12-year-old healthy male presenting with idiopathic short stature...
January 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29188236/novel-dominant-negative-gh-receptor-mutations-expands-the-spectrum-of-ghi-and-igf-i-deficiency
#19
Kanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, Merve Emecen Sanli, Alessia David, Louise A Metherell, Martin O Savage, Jaime Sánchez Del Pozo, Philippe F Backeljauw, Ron G Rosenfeld, Javier Aisenberg, Andrew Dauber, Vivian Hwa
Context: Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short stature and marked insulin-like growth factor (IGF)-I deficiency. We report three families with dominant-negative heterozygous mutations in the intracellular domain of the GHR causing a nonclassical GHI phenotype. Objective: To determine if the identified GHR heterozygous variants exert potential dominant-negative effects and are the cause for the GHI phenotype in our patients...
April 1, 2017: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29158767/screening-of-shox-gene-sequence-variants-in-saudi-arabian-children-with-idiopathic-short-stature
#20
Abdulla A Alharthi, Ehab I El-Hallous, Iman M Talaat, Hamed A Alghamdi, Matar I Almalki, Ahmed Gaber
Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene ( SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations...
October 2017: Korean Journal of Pediatrics
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