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https://www.readbyqxmd.com/read/27915352/baseline-characteristics-and-gender-differences-in-prepubertal-children-treated-with-growth-hormone-in-europe-usa-and-japan-25-years-kigs%C3%A2-experience-1987-2012-and-review
#1
Michael B Ranke, Anders Lindberg, Toshiaki Tanaka, Cecilia Camacho-Hübner, David B Dunger, Mitchell E Geffner
BACKGROUND: Information about disease-specific and gender-associated differences over longer time of short children treated with recombinant human growth hormone is missing. METHODS: We analyzed data at growth hormone (GH) start in prepubertal children diagnosed with idiopathic GH deficiency (IGHD), congenital GHD, acquired GHD, idiopathic short stature (ISS), and born small for gestational age (SGA) enrolled (1987-2012) in the Pfizer International Growth Study (KIGS®) from Europe, USA, and Japan...
December 3, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#2
REVIEW
Heeseog Kang, A C S Aryal, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27906553/short-adult-stature-predicts-impaired-beta-cell-function-insulin-resistance-glycemia-and-type-2-diabetes-in-finnish-men
#3
Jagadish Vangipurapu, Alena Stančáková, Raimo Jauhiainen, Johanna Kuusisto, Markku Laakso
CONTEXT: Recent studies have highlighted the role of height in complex diseases but conflicting information has been reported on height as a predictor of changes in glycemia and risk of type 2 diabetes. OBJECTIVE: Our aim was to investigate the association of height with insulin sensitivity, insulin secretion, glycemia, type 2 diabetes and cardiovascular disease in a large prospective population-based study. DESIGN: The study included 8,746 Finnish men (mean±SD, age 57...
December 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27900972/failure-to-thrive-and-nephrocalcinosis-due-to-distal-renal-tubular-acidosis-a-rare-presentation-of-pediatric-lupus-nephritis
#4
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
#5
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/27888646/corner-fracture-type-spondylometaphyseal-dysplasia-overlap-with-type-ii-collagenopathies
#6
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/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
#7
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
#8
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/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/27870580/clinical-characterization-of-patients-with-autosomal-dominant-short-stature-due-to-aggrecan-mutations
#13
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/27869420/trichorhinophalangeal-syndrome-type-ii-presenting-with-short-stature-in-a-child
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/27862862/variability-in-clinical-and-neuropsychological-features-of-individuals-with-map2k1-mutations
#17
Elizabeth I Pierpont, Margaret Semrud-Clikeman, Mary Ella Pierpont
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. Here we describe two male patients (ages 16 and 20 years) with mutations in MAP2K1 and heterogeneous clinical presentations. Both young men had short stature, some facial features suggesting a RASopathy and minimal cardiac involvement. Detailed medical and neuropsychological findings are presented alongside a comprehensive review of features of patients with MAP2K1 mutations reported in the literature...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27861527/the-impact-of-early-life-stress-on-growth-and-cardiovascular-risk-a-possible-example-for-autonomic-imprinting
#18
Reiner Buchhorn, Sebastian Meint, Christian Willaschek
INTRODUCTION: Early life stress is imprinting regulatory properties with life-long consequences. We investigated heart rate variability in a group of small children with height below the third percentile, who experienced an episode of early life stress due to heart failure or intra uterine growth retardation. These children appear to develop autonomic dysfunction in later life. RESULTS: Compared to the healthy control group heart rate variability (HRV) is reduced on average in a group of 101 children with short stature...
2016: PloS One
https://www.readbyqxmd.com/read/27861128/retinoic-acid-catabolizing-enzyme-cyp26c1-is-a-genetic-modifier-in-shox-deficiency
#19
Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke-Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold
Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disease severity/penetrance, we studied a three-generation family with SHOX deficiency. The variant p.Phe508Cys of the retinoic acid catabolizing enzyme CYP26C1 co-segregated with the SHOX variant p.Val161Ala in the affected individuals, while the SHOX mutant alone was present in asymptomatic individuals...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27858886/fixator-assisted-tibial-lengthening-over-a-plate-in-a-patient-with-sequelae-of-poliomyelitis
#20
Haci Bayram Tosun, Sancar Serbest, Abuzer Uludag, Seyitali Gumustas, Suat Celik
There are many techniques for limb lengthening. Lengthening over a plate is an alternative choice of fixation in children or when nailing is difficult. We present a new technique for tibial lengthening with using a monolateral external fixator over a lengthening plate.Lengthening over an intramedullary nail is a commonly used method in patients with short stature or limb-length discrepancy. However, in patients with a narrow and excessively sclerotic intramedullary cavity in the pediatric age group where the skeletal system has not yet fully developed, difficulties have been observed in lengthening methods with nailing...
November 2016: Medicine (Baltimore)
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