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Approach to short stature

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https://www.readbyqxmd.com/read/28911022/hypertensive-cardiovascular-risk-pulsatile-hemodynamics-gender-and-therapeutic-implications
#1
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/28895531/genetic-identification-of-a-common-collagen-disease-in-puerto-ricans-via-identity-by-descent-mapping-in-a-health-system
#2
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
https://www.readbyqxmd.com/read/28843469/a-genotype-first-approach-for-clinical-and-genetic-evaluation-of-wolcott-rallison-syndrome-in-a-large-cohort-of-iranian-patients-with-neonatal-diabetes
#3
Farzaneh Abbasi, Maryam Habibi, Samaneh Enayati, Fatemeh Bitarafan, Maryam Razzaghy-Azar, Aria Sotodeh, Sima Parvizi Omran, Reza Maroofian, Mahsa M Amoli
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3). METHODS: As part of a comprehensive study on clinical and genetic investigation of neonatal diabetes in an Iranian population, 60 unrelated Iranian subjects referred with PNDM were analyzed...
August 23, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28825592/the-evaluation-of-cases-with-y-chromosome-gonadal-dysgenesis-clinical-experience-for-18-years
#4
Merih Berberoğlu, Zeynep Şıklar
OBJECTIVE: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis, which may consist heterogenous symptoms. They are phenotypically classified into 2 groups as complete and partial; while karyotypic description was as 46,XY GD and 45,X/46,XY GD. METHODS: Thirty eight cases were followed-up between 1998 and 2016. The age of admission were within 0 to 17,16 decimal years. Clinical and laboratory findings as well as follow-up characteristics of cases were evaluated retrospectively from the patient reports...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#5
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#6
REVIEW
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28675583/experiencing-health-related-quality-of-life-in-paediatric-short-stature-a-cross-cultural-analysis-of-statements-from-patients-and-parents
#7
Rachel Sommer, Monika Bullinger, John Chaplin, Ju-Ky Do, Mick Power, Andreas Pleil, Julia Quitmann
OBJECTIVES: Direct assessment of the patient perspective is necessary to thoroughly understand patients' experiences of disease. We aimed to examine information from children with short stature on their perceived HrQoL within 5 European countries. METHODS: Patients, identified through clinical databases, were approached by their clinicians according to the inclusion criteria regarding a diagnosis of growth hormone deficiency or idiopathic short stature and age requirements...
July 4, 2017: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28661490/mutations-in-c-natriuretic-peptide-nppc-a-novel-cause-of-autosomal-dominant-short-stature
#8
Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F A Funari, Carolina Bezanilla-López, Marta Alonso-Bernáldez, Jimena Barraza-García, Maria Rodriguez-Zabala, Antonio M Lerario, Sara Benito-Sanz, Miriam Aza-Carmona, Angel Campos-Barros, Alexander A L Jorge, Karen E Heath
PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide precursor-C (NPPC) and natriuretic peptide receptor 2 (NPR2) genes, respectively. While NPR2 mutations have been described in patients with skeletal dysplasias and idiopathic short stature (ISS), and several Npr2 and Nppc skeletal dysplasia mouse models exist, no mutations in NPPC have been described in patients to date...
June 29, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28619408/children-crossing-streets-the-cognitive-task-of-pedestrians-across-nations
#9
David C Schwebel
BACKGROUND: About 100,000 children die worldwide in pedestrian crashes, more than 90% of whom live in low- and middle-income countries (LMICs). However, most existing research on children's ability to cross the street is conducted in high-income countries (HICs). OBJECTIVE: The present study discusses 4 ways pedestrian behavior in LMICs differs from that in HICs, influencing both children's ability to cross streets safely and adult efforts to train children in pedestrian safety...
March 2017: Annals of Global Health
https://www.readbyqxmd.com/read/28576543/pycnodysostosis-at-otorhinolaryngology
#10
Tekin Baglam, Adem Binnetoglu, Muhammet Fatih Topuz, Nilay Baş Ikizoglu, Refika Ersu, Serap Turan, Murat Sarı
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28558814/approach-to-growth-hormone-therapy-in-children-with-chronic-kidney-disease-varies-across-north-america-the-midwest-pediatric-nephrology-consortium-report
#11
Oleh M Akchurin, Amy J Kogon, Juhi Kumar, Christine B Sethna, Hoda T Hammad, Paul J Christos, John D Mahan, Larry A Greenbaum, Robert Woroniecki
BACKGROUND: Growth impairment remains common in children with chronic kidney disease (CKD). Available literature indicates low level of recombinant human growth hormone (rhGH) utilization in short children with CKD. Despite efforts at consensus guidelines, lack of high-level evidence continues to complicate rhGH therapy decision-making and the level of practice variability in rhGH treatment by pediatric nephrologists is unknown. METHODS: Cross-sectional online survey electronically distributed to pediatric nephrologists through the Midwest Pediatric Nephrology Consortium and American Society of Pediatric Nephrology...
May 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28535703/nutritional-status-and-height-weight-and-bmi-centiles-of-school-aged-children-and-adolescents-of-6-18-years-from-kinshasa-drc
#12
Rudahaba Augustin Buhendwa, Mathieu Roelants, Martine Thomis, Constant E Nkiama
BACKGROUND: The last study to establish centiles of main anthropometric measurements in Kinshasa was conducted over 60 years ago, which questions its current adequacy to describe or monitor growth in this population. AIM: To assess the nutritional status of school-aged children and adolescents and to estimate centile curves of height, weight and body mass index (BMI). SUBJECTS AND METHODS: A representative sample of 7541 school-aged children and adolescents (48% boys) aged 6-18 years was measured between 2010-2013...
June 14, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28529015/targeted-next-generation-sequencing-approach-in-patients-referred-for-silver-russell-syndrome-testing-increases-the-mutation-detection-rate-and-provides-decisive-information-for-clinical-management
#13
Robert Meyer, Lukas Soellner, Matthias Begemann, Severin Dicks, György Fekete, Nils Rahner, Klaus Zerres, Miriam Elbracht, Thomas Eggermann
OBJECTIVE: To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing. STUDY DESIGN: Forty-seven patients referred for molecular testing for SRS were examined after exclusion of one of the SRS-associated alterations. After clinical classification, a targeted next generation sequencing approach comprising 25 genes associated with other diagnoses or postulated as SRS candidate genes was performed...
August 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#14
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28525404/growth-hormone-treatment-for-growth-hormone-deficiency-and-idiopathic-short-stature-new-guidelines-shaped-by-the-presence-and-absence-of-evidence
#15
Adda Grimberg, David B Allen
PURPOSE OF REVIEW: The Pediatric Endocrine Society recently published new guidelines for the use of human growth hormone (hGH) and human insulin-like growth factor-I (hIGF-I) treatment for growth hormone deficiency, idiopathic short stature, and primary IGF-I deficiency in children and adolescents. This review places the new guidelines in historical contexts of the life cycle of hGH and the evolution of US health care, and highlights their future implications. RECENT FINDINGS: The new hGH guidelines, the first to be created by the Grading of Recommendations Assessment, Development and Evaluation approach, are more conservative than their predecessors...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#16
Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28476223/genetics-of-short-stature
#17
REVIEW
Youn Hee Jee, Anenisia C Andrade, Jeffrey Baron, Ola Nilsson
Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28412928/poplar-stem-transcriptome-is-massively-remodelled-in-response-to-single-or-repeated-mechanical-stimuli
#18
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/28373809/a-child-with-kabuki-syndrome-and-autism-spectrum-disorder
#19
Mehmet Sertçelik, Çağatay Uğur, Aynur Şahin Aközel, Cihat Kağan Gürkan
Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#20
REVIEW
Caroline Culen, Diana-Alexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
May 2017: Endocrine Connections
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