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https://www.readbyqxmd.com/read/28926843/the-genetic-basis-of-delayed-puberty
#1
S R Howard, Leo Dunkel
<br>The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone mineral density and compromised psychosocial health. Self-limited delayed puberty (DP) is a highly heritable trait, which often segregates in an autosomal dominant pattern; however, its neuroendocrine pathophysiology and genetic regulation remain unclear. Some insights into the genetic mutations that lead to familial DP have come from sequencing genes known to cause GnRH deficiency, most recently via next generation sequencing, and others from large-scale genome wide association studies in the general population...
September 18, 2017: Neuroendocrinology
https://www.readbyqxmd.com/read/28926587/functional-characterization-of-zebrafish-orthologs-of-the-human-beta-3-glucosyltransferase-b3glct-gene-mutated-in-peters-plus-syndrome
#2
Eric Weh, Hideyuki Takeuchi, Sanaa Muheisen, Robert S Haltiwanger, Elena V Semina
Peters Plus Syndrome (PPS) is a rare autosomal recessive disease characterized by ocular defects, short stature, brachydactyly, characteristic facial features, developmental delay and other highly variable systemic defects. Classic PPS is caused by loss-of-function mutations in the B3GLCT gene encoding for a β3-glucosyltransferase that catalyzes the attachment of glucose via a β1-3 glycosidic linkage to O-linked fucose on thrombospondin type 1 repeats (TSRs). B3GLCT was shown to participate in a non-canonical ER quality control mechanism; however, the exact molecular processes affected in PPS are not well understood...
2017: PloS One
https://www.readbyqxmd.com/read/28923047/prepubertal-onset-of-slipped-capital-femoral-epiphysis-associated-with-hypothyroidism-a-case-report-and-literature-review
#3
Saori Kadowaki, Tomohiro Hori, Hideki Matsumoto, Kaori Kanda, Michio Ozeki, Yu Shirakami, Norio Kawamoto, Hidenori Ohnishi, Toshiyuki Fukao
BACKGROUND: Slipped capital femoral epiphysis (SCFE) is a common hip disorder characterized by displacement of the capital femoral epiphysis from the metaphysic through the femoral epiphyseal plate. SCFE usually occurs during puberty, with obesity a common risk factor. We experienced a rare case of SCFE associated with hypothyroidism in a prepubescent patient who was not obese. CASE PRESENTATION: The patient was an 8-year-old boy suffering from bilateral SCFE with hypothyroidism...
September 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28922105/hereditary-multiple-exostoses-clinical-molecular-and-radiologic-survey-in-9-families
#4
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2-10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54...
2017: Prague Medical Report
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#5
REVIEW
Chin Fang Ngim, Nai Ming Lai, Janet Yh Hong, Shir Ley Tan, Amutha Ramadas, Premala Muthukumarasamy, Meow-Keong Thong
BACKGROUND: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Growth hormone deficiency is one of the factors that can lead to short stature, a common complication in people with thalassaemia...
September 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28919625/van-wyk-and-grumbach-syndrome-an-unusual-presentation-of-hypothyroism
#6
P K Chanda, M Kamrul-Hasan, M Abu-Bakar, M Rahman, M A Kader, M A Hossain, N I Siddiqui
An 18 years-old-girl presented one and half years back with the complaints of short stature, retarded growth, and menorrhagia with sudden severe lower abdominal pain; was diagnosed as bilateral ovarian cysts and underwent bilateral ovarian cystectomy. Later on she was incidentally diagnosed as a case of hypothyroidism when she had been experiencing slowly enlarging left lower abdominal mass with dull ache for the 5 month and then was transferred to the department of Endocrinology for further evaluation. Detailed work up revealed her short stature with obesity, delayed bone age and other features of hypothyroidism which was confirmed by thyroid function testing...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919604/correlation-of-stature-with-foot-length-in-5-10-years-aged-bangladeshi-children
#7
M Ismatsara, M Khalil, S Mannan, M T Alam, M M Rahman, Z Ahmed, E Z Epsi, A Kabir, S Farjan, R S Zisa
This cross sectional, descriptive and analytic type study was conducted among 5-10 years aged Bangladeshi children at different areas of Mymensingh district (Fulpur, Muktagacha, Fulbaria, Trisal and Haluaghat) on 109 Bangladeshi children (70 male and 39 female) from January 2016 to December 2016. Sample collection was done by nonrandom purposive sampling technique. Any kind of foot deformity resulting either from congenital or physical injury were excluded to construct standard measurement. The present anthropometric study was designed to construct data of 5 to 10 years aged Bangladeshi children regarding foot length, to measure correlation of stature with foot length and an attempt has been made out to grow interest among the researchers for future study and also to compare the data with the data of the people of other races...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#8
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#9
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28915901/possible-effects-of-an-early-diagnosis-and-treatment-in-patients-with-growth-hormone-deficiency-the-state-of-art
#10
REVIEW
Stefano Stagi, Perla Scalini, Giovanni Farello, Alberto Verrotti
Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may to require prompt replacement therapy to avoid possible life-threatening complications. An increasing amount of data suggests the importance of an early diagnosis and treatment of GHD because of its auxological, metabolic, and neurodevelopmental features with respect to the patients diagnosed and treated later in life...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28915118/delayed-diagnosis-of-proopiomelanocortin-pomc-deficiency-with-type-1-diabetes-in-a-9-year-old-girl-and-her-infant-sibling
#11
Elif Ozsu, Allison Bahm
BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#12
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28911024/ambulatory-pulse-pressure-predicts-the-development-of-left-ventricular-diastolic-dysfunction-in-over-20-years-of-follow-up
#13
Tero J W Pääkkö, Reko J Renko, Juha S Perkiömäki, Y Antero Kesäniemi, Antti S Ylitalo, Jarmo A Lumme, Heikki V Huikuri, Heikki Ruskoaho, Olli Vuolteenaho, Olavi H Ukkola
BACKGROUND: Ambulatory blood pressure (ABP) has been shown to have an association with left ventricular diastolic dysfunction (LVDD) in cross-sectional assessments. We evaluated the association between ABP measurement (ABPM) and the development of LVDD during over 20 years of follow up in 414 middle-aged subjects from OPERA cohort. METHODS: ABPM, clinical, and anthropometric measurements were performed in baseline. Echocardiographic measurements were performed at baseline and during follow-up and E/E' ≥15 was considered indicating significant LVDD...
October 1, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28911022/hypertensive-cardiovascular-risk-pulsatile-hemodynamics-gender-and-therapeutic-implications
#14
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/28902627/serum-%C3%AE-klotho-levels-are-not-informative-for-the-evaluation-of-growth-hormone-secretion-in-short-children
#15
Cristina Meazza, Heba H Elsedfy, Randa I Khalaf, Fiorenzo Lupi, Sara Pagani, Mohamed El Kholy, Carmine Tinelli, Giorgio Radetti, Mauro Bozzola
BACKGROUND: α-Klotho is a transmembrane protein that can be cleaved and act as a circulating hormone (s-klotho). s-Klotho serum levels seem to reflect growth hormone (GH) secretory status. We investigated the role of s-klotho as a reliable marker of GH secretion in short children and the factors influencing its secretion. METHODS: We enrolled 40 short Egyptian children (20 GH deficiency [GHD] and 20 idiopathic short stature [ISS]). They underwent a pegvisomant-primed insulin tolerance test (ITT) and were accordingly reclassified as 16 GHD and 24 ISS...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902392/expanding-the-clinical-and-molecular-spectrum-of-prmt7-mutations-three-additional-patients-and-review
#16
Emanuele Agolini, Maria Lisa Dentici, Emanuele Bellacchio, Viola Alesi, Francesca Clementina Radio, Annalaura Torella, Francesco Musacchia, Marco Tartaglia, Bruno Dallapiccola, Vincenzo Nigro, Maria Cristina Digilio, Antonio Novelli
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, seven patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures)...
September 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#17
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28899838/design-and-evaluation-of-novel-natriuretic-peptide-derivatives-with-improved-pharmacokinetic-and-pharmacodynamic-properties
#18
Naomi Morozumi, Seiji Sato, Sayaka Yoshida, Yuriko Harada, Mayumi Furuya, Yoshiharu Minamitake, Kenji Kangawa
C-type natriuretic peptide (CNP) and its receptor, natriuretic peptide receptor B (NPR-B), are potent positive regulators of endochondral bone growth, making the CNP pathway one of the most promising therapeutic targets for the treatment of growth failure. However, the administration of exogenous CNP is not fully effective, due to its rapid clearance in vivo. Modification of CNP to potentially druggable derivatives may result in increased resistance to proteolytic degradation, longer plasma half-life (T1/2), and better distribution to target tissues...
September 9, 2017: Peptides
https://www.readbyqxmd.com/read/28898651/from-early-farmers-to-norman-borlaug-the-making-of-modern-wheat
#19
David Vergauwen, Ive De Smet
If we wander through the countryside, passing fields of wheat, it is apparent that this crop is reasonably short in stature and that the stems carry large ears. However, this was not always the case. If we take a look at depictions of wheat throughout history, we observe that wheat used to be fairly tall. It was not until the second half of the 20(th) century that dwarf wheat varieties started to dominate the agricultural landscape. Underlying this short stature are the Reduced height (Rht) genes, which encode DELLA proteins and which formed the cornerstone of the Green Revolution...
September 11, 2017: Current Biology: CB
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
#20
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
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