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https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#1
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28426343/de-novo-mutation-of-kat6b-gene-causing-atypical-say-barber-biesecker-young-simpson-syndrome-or-genitopatellar-syndrome
#2
Guoqiang Li, Niu Li, Juan Li, Yu Ding, Tingting Yu, Xiumin Wang, Jian Wang
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#3
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28422341/late-pubertal-growth-spurt-in-a-girl-with-growth-hormone-deficiency-is-kaufmann-therapy-effective-in-a-girl-with-short-stature-who-responds-poorly-to-growth-hormone-therapy-and-estrogen-replacement-therapy
#4
Katsuhiko Yasuda
A Japanese senior high school girl aged 18 years and 5 months with growth hormone deficiency was referred for primary amenorrhea. Her height was 1.36 m, and her bodyweight was 23.5 kg. She had received daily growth hormone therapy from the age of 5 years. Growth hormone therapy was discontinued at the age of 16 years and 11 months, and estrogen-replacement therapy (ERT) was started to stimulate secondary sexual characteristics. Although ERT was performed until the age of 18 years and 11 months, genital bleeding did not occur...
April 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#5
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28420523/molecular-cytogenetic-characterization-and-prenatal-diagnosis-of-familial-xp22-33-microdeletion-encompassing-short-stature-homeobox-gene-in-a-male-fetus-with-a-favorable-outcome
#6
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Dai-Dyi Town, Meng-Shan Lee, Wayseen Wang
No abstract text is available yet for this article.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28419241/central-hypothyroidism-due-to-a-trhr-mutation-causing-impaired-ligand-affinity-and-transactivation-of-gq
#7
Marta García, Jesús González de Buitrago, Mireia Jiménez-Rosés, Leonardo Pardo, Patricia M Hinkle, José C Moreno
Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of TSH leading to low thyroid hormone synthesis. TRH receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms...
April 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28418105/climate-and-successional-related-changes-in-functional-composition-of-european-forests-are-strongly-driven-by-tree-mortality
#8
Paloma Ruiz-Benito, Sophia Ratcliffe, Miguel A Zavala, Jordi Martínez-Vilalta, Albert Vilà-Cabrera, Francisco Lloret, Jaime Madrigal-González, Christian Wirth, Sarah Greenwood, Gerald Kändler, Aleksi Lehtonen, Jens Kattge, Jonas Dahlgren, Alistair S Jump
Intense droughts combined with increased temperatures are one of the major threats to forest persistence in the 21(st) century. Despite the direct impact of climate change on forest growth and shifts in species abundance, the effect of altered demography on changes in the composition of functional traits is not well known. We sought to: (1) quantify the recent changes in functional composition of European forests; (2) identify the relative importance of climate change, mean climate and forest development for changes in functional composition; and (3) analyse the roles of tree mortality and growth underlying any functional changes in different forest types...
April 18, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28412928/poplar-stem-transcriptome-is-massively-remodelled-in-response-to-single-or-repeated-mechanical-stimuli
#9
Lise Pomiès, Mélanie Decourteix, Jérôme Franchel, Bruno Moulia, Nathalie Leblanc-Fournier
BACKGROUND: Trees experience mechanical stimuli -like wind- that trigger thigmomorphogenetic syndrome, leading to modifications of plant growth and wood quality. This syndrome affects tree productivity but is also believed to improve tree acclimation to chronic wind. Wind is particularly challenging for trees, because of their stature and perenniality. Climate change forecasts are predicting that the occurrence of high wind will worsen, making it increasingly vital to understand the mechanisms regulating thigmomorphogenesis, especially in perennial plants...
April 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#10
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28407820/-clinical-features-of-hereditary-distal-renal-tubular-acidosis-and-slc4a1-gene-mutation
#11
Juan DU, Qian-Qian Pang, Yan Jiang, Ou Wang, Mei Li, Xiao-Ping Xing, Wei-Bo Xia
OBJECTIVE: To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1. METHODS: Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations. RESULTS: Three patients in these two families (two of them were mother and son) were diagnosed with dRTA with typical clinical features, including short stature, metabolic acidosis, alkaline urine, hypokalemia, and nephrocalcinosis...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28407409/clinical-and-molecular-characterization-of-a-second-family-with-the-12q14-microdeletion-syndrome-and-review-of-the-literature
#12
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28397226/-analysis-of-clinical-features-and-galns-gene-mutation-in-a-patient-with-mucopolysaccharidosis-type-iv-a
#13
Qiong Chen, Yongxing Chen, Xiaojing Liu, Haiyan Wei
OBJECTIVE: To detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome). METHODS: The patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing. RESULTS: The patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397185/validation-of-the-italian-quality-of-life-in-short-stature-youth-qolissy-questionnaire
#14
J Quitmann, A Giammarco, M Maghnie, F Napoli, I Di Giovanni, C Carducci, A Mohn, M Bullinger, R Sommer
PURPOSE: The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a disease-specific instrument developed to assess health-related quality of life (HrQoL) in children with short stature. While the original instrument was simultaneously developed in five European countries, this study describes the results of the Italian QoLISSY translation, cultural adaptation, and validation. METHODS: Focus group discussions and a cognitive debriefing process with children (N = 12) diagnosed with growth hormone deficiency or idiopathic short stature and one parent each, as well as parents of younger children (N = 20) were conducted to examine the linguistic and content validity of the Italian version...
April 10, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28396901/-%C3%A2-biomechanics-of-new-implants-for-hto
#15
D Pape, A Diffo Kaze, A Hoffmann, S Maas
Biomechanical characteristics of 5 tibial osteotomy plates for the treatment of medial knee joint osteoarthritis were examined. Fourth-generation tibial bone composites underwent a medial open-wedge high tibial osteotomy, using TomoFix™ standard, PEEKPower®, ContourLock®, TomoFix™ small stature plates, and iBalance® implants. Static compression load to failure and load-controlled cyclic fatigue failure tests were performed. All plates had sufficient stability up to 2400 N in the static compression load to failure tests...
April 10, 2017: Der Orthopäde
https://www.readbyqxmd.com/read/28396070/novel-pathogenic-acan-variants-in-non-syndromic-short-stature-patients
#16
Xuyun Hu, Baoheng Gui, Jiasun Su, Hongdou Li, Niu Li, Tingting Yu, Qinle Zhang, Yufei Xu, Guoqiang Li, Yulin Chen, Yanrong Qing, Chuan Li, Jingsi Luo, Xin Fan, Yu Ding, Juan Li, Jian Wang, Xiumin Wang, Shaoke Chen, Yiping Shen
BACKGROUND: Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age. A recent international cohort study significantly expanded the ACAN mutation spectrum, further delineated the heterogeneous clinical characteristics of ACAN mutation patients. The prevalence of ACAN mutation in short stature patients is yet unknown...
April 7, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28395282/expanding-genetic-and-functional-diagnoses-of-igf1r-haploinsufficiencies
#17
Paula Ocaranza, Marjorie C Golekoh, Shayne F Andrew, Michael H Guo, Paul Kaplowitz, Howard Saal, Ron G Rosenfeld, Andrew Dauber, Fernando Cassorla, Philippe F Backeljauw, Vivian Hwa
BACKGROUND: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth. METHODS: Whole exome sequence (WES), chromosomal microarray, and targeted IGF1R gene analyses were performed on 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity...
April 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28395280/triple-a-syndrome-preliminary-response-to-the-antioxidant-n-acetylcysteine-treatment-in-a-child
#18
Maria Candida Barisson Villares Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, Paula Waki Lopes da Rosa, Rodrigo Bomeny de Paulo, Maria Heloisa Massola Schimizu, Antonio Carlos Seguro, Marisa Passarelli, Katrin Koehler, Angela Huebner, Madson Q Almeida, Ana Claudia Latronico, Ivo Jorge Prado Arnhold, Berenice Bilharinho Mendonca
INTRODUCTION: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanism. N-acetylcysteine protects renal function in patients with kidney injuries associated with increased oxidative stress and improves viability of AAAS-knockdown adrenal cells in vitro...
April 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28390077/aberrant-hras-transcript-processing-underlies-a-distinctive-phenotype-within-the-rasopathy-clinical-spectrum
#19
Francesca Pantaleoni, Dorit Lev, Ion C Cirstea, Marialetizia Motta, Francesca Romana Lepri, Lisabianca Bottero, Serena Cecchetti, Ilan Linger, Stefano Paolacci, Elisabetta Flex, Antonio Novelli, Alessandra Carè, Reza Ahmadian, Emilia Stellacci, Marco Tartaglia
RASopathies are a group of rare, clinically related conditions affecting development and growth, and are caused by germline mutations in genes encoding signal transducers and modulators with a role in the RAS signaling network. These disorders share facial dysmorphia, short stature, variable cognitive deficits, skeletal and cardiac defects, and a variable predisposition to malignancies. Here, we report on a de novo 10-nucleotide-long deletion in HRAS (c.481_490delGGGACCCTCT, NM_176795.4; p.Leu163ProfsTer52, NP_789765...
April 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28387420/short-maternal-stature-and-increased-risk-of-ischaemic-placental-disease-is-the-association-driven-by-unmeasured-confounding
#20
Katheryne L Downes, Cande V Ananth
No abstract text is available yet for this article.
April 7, 2017: Paediatric and Perinatal Epidemiology
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