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https://www.readbyqxmd.com/read/27900972/failure-to-thrive-and-nephrocalcinosis-due-to-distal-renal-tubular-acidosis-a-rare-presentation-of-pediatric-lupus-nephritis
#1
Madhumita Nandi, Mrinal Kanti Das, Sukanta Nandi
A 9-year-old female child was initially diagnosed of having nephrocalcinosis with distal renal tubular acidosis (dRTA) while investigating for short stature. She later on developed features of nephrotic syndrome (NS) while on treatment for RTA. Investigation for the cause of NS revealed very strong serological evidence in favor of systemic lupus erythematosus (SLE). Histopathological confirmation could not be done due to bilateral severely contracted kidneys. There are a few case reports of dRTA as the presentation of SLE, but nephrocalcinosis with dRTA with subsequent manifestation of SLE has hitherto not been reported in literature...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27890699/ayurvedic-management-of-spondyloepiphyseal-dysplasia-tarda-a-rare-hereditary-disorder
#2
Sarvesh Kumar Singh, Kshipra Rajoria
Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagnosed as Vata vyadhi was treated with Panchakarma therapy and selected Ayurvedic oral medicines. Ayurvedic treatment was directed to ameliorate the orthopaedic clinical conditions in this case...
November 25, 2016: Journal of Ayurveda and Integrative Medicine
https://www.readbyqxmd.com/read/27890319/diachronic-changes-in-size-and-shape-of-human-proximal-tibia-in-central-europe-during-the-latest-1200-years
#3
H Brzobohatá, V Krajíček, Z Horák, P Sedlak, J Velemínská
During the past twelve centuries, the stature of Central European inhabitants has increased significantly with corresponding changes in the size of lower limb bones. The aim of our study was to determine whether these changes have occurred strictly in relation to size or if the shape of skeletal structures has been altered simultaneously. Diachronic size and shape changes in the proximal part of tibia in a Central European population (Czech Republic) were studied using geometric morphometrics (principal components analysis, Hotelling's test, linear discriminant analysis)...
October 13, 2016: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/27888646/corner-fracture-type-spondylometaphyseal-dysplasia-overlap-with-type-ii-collagenopathies
#4
Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T Lu, Alyssa Tran, Yuqing Chen, Alan Schlesinger, Richard Gibbs, Luisa Bonafe, Ana Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Brendan H Lee, Philippe M Campeau, Lindsay C Burrage
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies...
November 26, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27884191/gender-differences-in-load-carriage-injuries-of-australian-army-soldiers
#5
Robin Marc Orr, Rodney Pope
BACKGROUND: With the removal of gender restrictions and the changing nature of warfare potentially increasing female soldier exposure to heavy military load carriage, the aim of this research was to determine relative risks and patterns of load carriage related injuries in female compared to male soldiers. METHODS: The Australian Defence Force Occupational Health, Safety and Compensation Analysis and Reporting workplace injury database was searched to identify all reported load carriage injuries...
November 25, 2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27884013/guidelines-for-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents-growth-hormone-deficiency-idiopathic-short-stature-and-primary-insulin-like-growth-factor-i-deficiency
#6
Adda Grimberg, Sara A DiVall, Constantin Polychronakos, David B Allen, Laurie E Cohen, Jose Bernardo Quintos, Wilma C Rossi, Chris Feudtner, Mohammad Hassan Murad
BACKGROUND/AIMS: On behalf of the Drug and Therapeutics, and Ethics Committees of the Pediatric Endocrine Society, we sought to update the guidelines published in 2003 on the use of growth hormone (GH). Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges often blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I deficiency (PIGFD), we focused on these three diagnoses, thereby adding recombinant IGF-I therapy to the GH guidelines for the first time...
November 25, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27882484/diagnostic-challenge-of-diamond-blackfan-anemia-in-mothers-and-children-by-whole-exome-sequencing
#7
Takuya Ichimura, Kenichi Yoshida, Yusuke Okuno, Toshiaki Yujiri, Kozo Nagai, Masanori Nishi, Yuichi Shiraishi, Hiroo Ueno, Tsutomu Toki, Kenichi Chiba, Hiroko Tanaka, Hideki Muramatsu, Toshiro Hara, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Etsuro Ito, Seishi Ogawa, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clinical heterogeneity and clusters of causative RP genes hamper the diagnosis and perinatal management. We report three mother-and-child pairs of anemia who were finally diagnosed by whole-exome sequencing. Each pair showed distinct disease severity and response to anemia treatment. Only one mother had the diagnostic dysmorphism, including short stature, webbed neck, and thenar hypoplasia...
November 23, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27879262/influence-of-biological-and-social-historical-variables-on-the-time-taken-to-describe-an-angiosperm
#8
Evelin K S Cavallin, Cássia B R Munhoz, Stephen A Harris, Daniel Villarroel, Carolyn E B Proença
PREMISE OF THE STUDY: By convention, scientific naming of angiosperm species began in 1753; it is estimated that 10-20% of species remain undescribed. To complete this task before rare, undescribed species go extinct, a better understanding of the description process is needed. The South American Cerrado biodiversity hotspot was considered a suitable model due to a high diversity of plants, habitats, and social history of species description. METHODS: A randomized sample of 214 species (2% of the angiosperm flora) and 22 variables were analyzed using multivariate analyses and analysis of variance...
November 2016: American Journal of Botany
https://www.readbyqxmd.com/read/27878339/multifocal-tenosynovial-giant-cell-tumors-in-a-child-with-noonan-syndrome
#9
Arthur B Meyers, Agboola O Awomolo, Sara Szabo
Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis...
November 23, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27876257/tubular-aggregate-myopathy-with-features-of-stormorken-disease-due-to-a-new-stim1-mutation
#10
Jean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, Lucie Guyant-Marechal, Anne-Laure Bedat-Millet, Léa Chiche, Robert-Yves Carlier, Edoardo Malfatti, Norma B Romero, Tanya Stojkovic
STIM1 is a reticular Ca(2+) sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia. Here we present the case of a 41-year-old female complaining of exercise intolerance. Clinical examination showed short stature, scoliosis, proximal muscle weakness with lower limb predominance, and ophthalmoplegia...
October 14, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27875418/nonclassic-features-of-pseudohypoparathyroidism-type-1a
#11
Ashley H Shoemaker, Harald Jüppner
PURPOSE OF REVIEW: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype. RECENT FINDINGS: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia...
November 21, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27871115/abnormal-proteoglycan-synthesis-due-to-gene-defects-causes-skeletal-diseases-with-overlapping-phenotypes
#12
F Taylan, O Mäkitie
In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we exclusively focused on 5 genes - XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 - that encode enzymes involved in the biosynthesis of the common tetrasaccharide linker region of proteoglycans and review the associated diseases, also referred to as linkeropathies, by summarizing the cases reported in literature...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27871104/development-evaluation-and-sensitivity-analysis-of-parametric-finite-element-whole-body-human-models-in-side-impacts
#13
Eunjoo Hwang, Jingwen Hu, Cong Chen, Katelyn F Klein, Carl S Miller, Matthew P Reed, Jonathan D Rupp, Jason J Hallman
Occupant stature and body shape may have significant effects on injury risks in motor vehicle crashes, but the current finite element (FE) human body models (HBMs) only represent occupants with a few sizes and shapes. Our recent studies have demonstrated that, by using a mesh morphing method, parametric FE HBMs can be rapidly developed for representing a diverse population. However, the biofidelity of those models across a wide range of human attributes has not been established. Therefore, the objectives of this study are 1) to evaluate the accuracy of HBMs considering subject-specific geometry information, and 2) to apply the parametric HBMs in a sensitivity analysis for identifying the specific parameters affecting body responses in side impact conditions...
November 2016: Stapp Car Crash Journal
https://www.readbyqxmd.com/read/27871101/morphomics-of-the-talus
#14
David Gorman, Ebram Handy, Sikui Wang, Annette L Irwin, Stewart Wang
Previous studies of frontal crash databases reported that ankle fractures are among the most common lower extremity fractures. While not generally life threatening, these injuries can be debilitating. Laboratory research into the mechanisms of ankle fractures has linked dorsiflexion with an increased risk of tibia and fibula malleolus fractures. However, talus fractures were not produced in the laboratory tests and appear to be caused by more complex loading of the joint. In this study, an analysis of the National Automotive Sampling System - Crashworthiness Data System (NASS-CDS) for the years 2004-2013 was conducted to investigate foot-ankle injury rates in front seat occupants involved in frontal impact crashes...
November 2016: Stapp Car Crash Journal
https://www.readbyqxmd.com/read/27871094/biomechanical-responses-of-pmhs-subjected-to-abdominal-seatbelt-loading
#15
Rakshit Ramachandra, Yun-Seok Kang, John H Bolte, Alena Hagedorn, Rodney Herriott, Jason A Stammen, Kevin Moorhouse
Past studies have found that a pressure based injury risk function was the best predictor of liver injuries due to blunt impacts. In an effort to expand upon these findings, this study investigated the biomechanical responses of the abdomen of post mortem human surrogates (PMHS) to high-speed seatbelt loading and developed external response targets in conjunction with proposing an abdominal injury criterion. A total of seven unembalmed PMHS, with an average mass and stature of 71 kg and 174 cm respectively were subjected to belt loading using a seatbelt pull mechanism, with the PMHS seated upright in a freeback configuration...
November 2016: Stapp Car Crash Journal
https://www.readbyqxmd.com/read/27870580/clinical-characterization-of-patients-with-autosomal-dominant-short-stature-due-to-aggrecan-mutations
#16
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F A Funari, Karen E Heath, Alexander A L Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, Catherine Nowak, Micah Olson, Jadranka Popovic, Štěpánka Průhová, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan Swartz, González-Del Angel Ariadna, Díaz-Cuéllar Sinhué, Hidekazu Hosono, Pedro A Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber
CONTEXT: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, premature growth cessation and minor skeletal abnormalities. OBJECTIVE: Characterize the phenotypic spectrum, associated conditions and response to growth-promoting therapies. DESIGN: Retrospective international cohort study. PATIENTS: Information from 103 individuals (57 female, 46 male) from 20 families with confirmed heterozygous ACAN mutations were included...
November 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27870025/elephants-in-the-understory-opposing-direct-and-indirect-effects-of-consumption-and-ecosystem-engineering-by-megaherbivores
#17
Tyler C Coverdale, Tyler R Kartzinel, Kathryn L Grabowski, Robert K Shriver, Abdikadir A Hassan, Jacob R Goheen, Todd M Palmer, Robert M Pringle
Positive indirect effects of consumers on their resources can stabilize food webs by preventing overexploitation, but the coupling of trophic and non-trophic interactions remains poorly integrated into our understanding of community dynamics. Elephants engineer African savanna ecosystems by toppling trees and breaking branches, and although their negative effects on trees are well documented, their effects on small-statured plants remain poorly understood. Using data on 117 understory plant taxa collected over 7 yr within 36 1-ha experimental plots in a semi-arid Kenyan savanna, we measured the strength and direction of elephant impacts on understory vegetation...
November 2016: Ecology
https://www.readbyqxmd.com/read/27869420/trichorhinophalangeal-syndrome-type-ii-presenting-with-short-stature-in-a-child
#18
Filiz Hazan, Hüseyin A Korkmaz, Kanay Yararbaş, Wim Wuyts, Ajlan Tükün
Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27867396/challenges-in-the-diagnosis-and-management-of-growth-hormone-deficiency-in-india
#19
REVIEW
Mathew John, Ekaterina Koledova, Kanakatte Mylariah Prasanna Kumar, Harshal Chaudhari
In clinical practice, every year approximately 150,000 children are referred with short stature (SS) based on a cut-off of fifth percentile. The most important endocrine and treatable cause of SS is growth hormone deficiency (GHD). The lack of reliable data on the prevalence of GHD in India limits estimation of the magnitude of this problem. The diagnosis and treatment of GHD are hurdled with various challenges, restricting the availability of growth hormone (GH) therapy to only a very limited segment of the children in India...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27866314/factors-associated-with-health-related-quality-of-life-hrqol-in-adults-with-short-stature-skeletal-dysplasias
#20
Nitasha Dhiman, Alia Albaghdadi, Cheryl K Zogg, Meesha Sharma, Julie E Hoover-Fong, Michael C Ain, Adil H Haider
INTRODUCTION: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores. METHODS: Members (>18 years) of Little People of America were invited to complete an online survey assessing HRQOL using the SF-12 supplemented with indicator-specific questions...
November 19, 2016: Quality of Life Research
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