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https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#1
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
March 16, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28301320/analysis-of-growth-hormone-receptor-gene-expression-in-tall-and-short-stature-children
#2
Sara Pagani, Giorgio Radetti, Cristina Meazza, Mauro Bozzola
BACKGROUND: The majority of children who present for evaluation of tall stature fall under the diagnosis of constitutional tall stature (CTS). METHODS: To investigate mechanisms of tall stature, we evaluated serum IGF-I values and the expression of the GHR gene in the peripheral blood cells of 46 subjects with normal height, 38 with tall stature and 30 healthy children with short stature. RESULTS: Our results showed significantly lower IGF-I levels in children with short stature (-0...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28274950/management-of-endocrine-disease-diagnostic-and-therapeutic-approach-of-tall-stature
#3
Edoarda Vasco de Albuquerque Albuquerque, Renata C Scalco, Alexander Augusto de Lima Jorge
Tall stature is defined as a height of more than 2 standard deviations (SD) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand specific follow-up approaches...
March 8, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28247634/-anthropomorphic-features-of-patients-with-tuberculosis-of-the-prostate
#4
A V Osadchii, E V Kulchavenya, E V Brizhatyuk
INTRODUCTION: Modern TB patient has lost the physical appearance (habitus phtisicus) typical for the previous years. Moreover, patients with different tuberculosis localizations also have different anthropomorphic characteristics. MATERIAL AND METHODS: To determine anthropomorphic characteristics of patients with tuberculosis of the prostate, several parameters were compared between 95 male patients with pulmonary tuberculosis and 49 patients with prostatic tuberculosis...
August 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#5
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28207766/climate-change-across-seasons-experiment-ccase-a-new-method-for-simulating-future-climate-in-seasonally-snow-covered-ecosystems
#6
Pamela H Templer, Andrew B Reinmann, Rebecca Sanders-DeMott, Patrick O Sorensen, Stephanie M Juice, Francis Bowles, Laura E Sofen, Jamie L Harrison, Ian Halm, Lindsey Rustad, Mary E Martin, Nicholas Grant
Climate models project an increase in mean annual air temperatures and a reduction in the depth and duration of winter snowpack for many mid and high latitude and high elevation seasonally snow-covered ecosystems over the next century. The combined effects of these changes in climate will lead to warmer soils in the growing season and increased frequency of soil freeze-thaw cycles (FTCs) in winter due to the loss of a continuous, insulating snowpack. Previous experiments have warmed soils or removed snow via shoveling or with shelters to mimic projected declines in the winter snowpack...
2017: PloS One
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#7
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28191907/anthropometric-parameters-and-the-incidence-of-atrial-fibrillation-in-older-people-the-pro-v-a-study
#8
Caterina Trevisan, Stefania Maggi, Chiara Curreri, Giovanni Nante, Marianna Noale, Marina De Rui, Egle Perissinotto, Leonardo Sartori, Sabina Zambon, Gaetano Crepaldi, Enzo Manzato, Giuseppe Sergi
BACKGROUND: Atrial fibrillation (AF) has been associated with body size and central obesity, but the impact of different anthropometric measures in this relationship has been inadequately investigated. HYPOTHESIS: In this study, we examined the association between baseline anthropometric parameters with the incidence of AF in older people, hypothesizing that body size could impact the onset of AF more than fat distribution. METHODS: Our study included 1764 participants with a mean age of 74...
February 13, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#9
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28061864/identification-of-brassinosteroid-genes-in-brachypodium-distachyon
#10
Claudia Corvalán, Sunghwa Choe
BACKGROUND: Brassinosteroids (BRs) are steroidal phytohormones that are involved in diverse physiological processes and affect many important traits, such as plant stature, stress tolerance, leaf angle, fertility, and grain filling. BR signaling and biosynthetic pathways have been studied in various plants, such as the model dicot Arabidopsis thaliana; however, relatively little is known about these pathways in monocots. RESULTS: To characterize BR-related processes in the model grass Brachypodium distachyon, we studied the response of these plants to the specific BR biosynthesis inhibitor, propiconazole (Pcz)...
January 6, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28057878/pseudoautosomal-abnormalities-in-terminal-azfb-c-deletions-are-associated-with-isochromosomes-yp-and-may-lead-to-abnormal-growth-and-neuropsychiatric-function
#11
A Castro, F Rodríguez, M Flórez, P López, B Curotto, D Martínez, A Maturana, M C Lardone, C Palma, V Mericq, M Ebensperger, F Cassorla
STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders? SUMMARY ANSWER: Only subjects diagnosed with azoospermia factor (AZF)b+c deletions spanning to the end of the Y chromosome (i.e. terminal deletions) harbor Y isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28013319/determinants-of-bmi-category-changes-during-middle-childhood-and-adolescence-in-girls
#12
Katarzyna Kliś, Anna Majcher, Monika Paluchowska, Iwona Wronka
The aim of the study was to analyse the changes in BMI category between 7 and 16-18 years of age on the basis of continuous studies and evaluate which factors are related to the increase and decrease in BMI category. Data were collected from 1008 secondary school students aged 16-18 y. Body height and weight were measured and BMI was calculated. Information on height and body mass in earlier periods of life was retrieved from medical records. Age at menarche and socio-economic status was established on the basis of a questionnaire...
2016: Folia Medica Cracoviensia
https://www.readbyqxmd.com/read/27999091/regulation-of-bone-growth-via-ligand-specific-activation-of-estrogen-receptor-alpha
#13
Maryam Iravani, Marie K Lagerquist, Claes Ohlsson, Lars Savendahl
Estrogens are well known for their capacity to promote bone maturation and at high doses to induce growth plate closure and thereby stop further growth. High-dose estrogen treatment has therefore been used to limit growth in extremely tall girls. However, recent data suggest that this treatment may have severe side effects, including increased risk of cancer and reduced fertility. We hypothesized that estrogenic effects in bone are mediated via ERα signaling. Twelve-week old ovariectomized female C57BL/6 mice were subcutaneously injected for 4 weeks with E2 or selective ERα (PPT) or ERβ (DPN) agonists...
December 20, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27957294/adult-celiac-disease-patients-are-shorter-compared-with-their-peers-in-the-general-population
#14
Abbas Esmaeilzadeh, Azita Ganji, Ladan Goshayeshi, Kamran Ghafarzadegan, Mehdi Afzal Aghayee, Homan Mosanen Mozafari, Hassan Saadatniya, Abdolrasol Hayatbakhs, Vahid Ghavami Ghanbarabadi
BACKGROUND Delay in diagnosis of celiac disease (CD) occurs frequently, although its consequences are mostly not known. One of the presented symptoms in pediatric patients with CD is the short stature. However, far too little attention has been paid to physical features including height of adult patients with CD. This study was undertaken to evaluate whether patients suffering from CD are shorter in comparison with the general population without CD. As well, we evaluated probable correlations between demographic and physical features, main complains, serum anti tTG level, and intestinal pathology damage between short (lower quartile) versus tall stature (upper quartile) patients with CD...
October 2016: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/27928398/high-myopia-associated-with-triple-x-syndrome
#15
Tomo Nishi, Nahoko Ogata
We report our findings in a 3-year-old girl who was suspected of having triple X syndrome because she was taller than +4.35 standard deviations for her age. She also had high myopia. Optical coherence tomography (OCT) showed that her retinas were thin, the lenses were subluxated, and the axial length was elongated. Our findings indicate that for a female child with tall stature, there should be thorough evaluations for endocrinological disorders, overgrowth syndromes, connective tissue disorders, and genetic disorders...
June 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27824615/a-case-of-46-xx-dysgenesis-and-marked-tall-stature-the-need-for-caution-in-interpreting-array-comparative-genomic-hybridization-cgh
#16
Vidya Kanamkote Narayanan, Mira Kharbanda, Malcolm Donaldson
BACKGROUND: Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. CASE REPORT: A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27738543/melanocortin-4-receptor-deficiency-phenotype-with-an-interstitial-18q-deletion-a-case-report-of-severe-childhood-obesity-and-tall-stature
#17
Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27701732/novel-dnmt3a-germline-mutations-are-associated-with-inherited-tatton-brown-rahman-syndrome
#18
B Xin, T Cruz Marino, J Szekely, J Leblanc, K Cechner, V Sency, C Wensel, M Barabas, V Therriault, H Wang
Tatton-Brown-Rahman syndrome (TBRS) was recently described in 13 isolated cases with de novo mutations in the DNMT3A gene. This autosomal dominant condition is characterized by tall stature, intellectual disability and a distinctive facial appearance. Here, we report six cases of inherited TBRS caused by novel DNMT3A germline mutations. The affected individuals belong to two sib-ships: four from an Old Order Amish family in America and two from a French Canadian family in Canada. All of them presented with characteristic features of TBRS, including dysmorphic facial features, increased height, intellectual disability, and variable additional features...
October 4, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27688808/19p13-2-microdeletion-including-nfix-associated-with-overgrowth-and-intellectual-disability-suggestive-of-malan-syndrome
#19
Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang, Zhi-Ping Tan
BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27643683/stature-signals-status-the-association-of-stature-status-and-perceived-dominance-a-thought-experiment
#20
Michael Hermanussen, Christiane Scheffler
Background: There is a common perception that tall stature results in social dominance. Evidence in meerkats suggests that social dominance itself may be a strong stimulus for growth. Relative size serves as the signal for individuals to induce strategic growth adjustments. Aim: We construct a thought experiment to explore the potential consequences of the question: is stature a social signal also in humans? We hypothesize that (1) upward trends in height in the lower social strata are perceived as social challenges yielding similar though attenuated upward trends in the dominant strata, and that (2) democratization, but also periods of political turmoil that facilitate upward mobility of the lower strata, are accompanied by upward trends in height...
November 1, 2016: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
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