keyword
MENU ▼
Read by QxMD icon Read
search

Short stature

keyword
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#1
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#2
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211151/phenotypic-distribution-models-corroborate-species-distribution-models-a-shift-in-the-role-and-prevalence-of-a-dominant-prairie-grass-in-response-to-climate-change
#3
Adam B Smith, Jacob Alsdurf, Mary Knapp, Sara G Baer, Loretta C Johnson
Phenotypic variation within species can vary widely across environmental gradients but forecasts of species' responses to environmental change often assume species respond homogenously across their ranges. We compared predictions from species and phenotype distribution models under future climate scenarios for Andropogon gerardii, a widely distributed, dominant grass found throughout the central United States. Phenotype data on aboveground biomass, height, leaf width, and chlorophyll content were obtained from 33 populations spanning a ~1000-km gradient that encompassed the majority of the species' environmental range...
February 17, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28209722/long-term-outcome-of-hematopoietic-stem-cell-transplantation-for-il2rg-jak3-scid-a-cohort-report
#4
Intan Juliana Abd Hamid, Mary A Slatter, Fiona McKendrick, Mark S Pearce, Andrew R Gennery
Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte and Natural Killer (NK) cell differentiation defect in IL2RG/JAK3 SCID. We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3+, CD4+ naïve T-lymphocyte, CD19+ and NK cell numbers from pre-transplant until 15 years post-transplant...
February 16, 2017: Blood
https://www.readbyqxmd.com/read/28207416/are-aromatase-inhibitors-in-boys-with-predicted-short-stature-and-or-rapidly-advancing-bone-age-effective-and-safe
#5
Jessica A Ferris, Mitchell E Geffner
BACKGROUND: The aim of this study was to assess aromatase inhibitor (AI) efficacy in increasing predicted adult height (PAH) and to describe clinical and biochemical safety profiles of AI-treated boys. METHODS: A retrospective chart review was conducted at an academic children's hospital endocrinology clinic. Twenty-one boys with predicted short stature and/or rapidly advancing bone age, divided as Tanner stage (TS) I-III Group 1 (G1, n=9) and TS IV-V Group 2 (G2, n=12), were treated with AIs, either letrozole or anastrozole (mean duration, G1: 2...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28205584/a-postnatal-role-for-embryonic-myosin-revealed-by-myh3-mutations-that-alter-tgf%C3%AE-signaling-and-cause-autosomal-dominant-spondylocarpotarsal-synostosis
#6
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, Kimberly N Forlenza, Jorge H Martin, Kelly Heard, Dorothy K Grange, Merlin G Butler, Tjitske Kleefstra, Ralph S Lachman, Deborah Nickerson, Michael Regnier, Daniel H Cohn, Michael Bamshad, Deborah Krakow
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28192847/-gastroparesis-in-noonan-syndrome
#7
Konstantin G Heimrich, Falk Gühne, Solveig Schulz, Stephanie Mutschke, Andreas Stallmach, Jessica Rüddel
We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur...
February 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28190459/mutations-in-inpp5k-cause-a-form-of-congenital-muscular-dystrophy-overlapping-marinesco-sj%C3%A3-gren-syndrome-and-dystroglycanopathy
#8
Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini
Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome...
February 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28186598/-a-boy-with-meier-gorlin-syndrome-carrying-a-novel-orc6-mutation-and-uniparental-disomy-of-chromosome-16
#9
Juan Li, Yu Ding, Guoying Chang, Qing Cheng, Xin Li, Jian Wang, Xiumin Wang, Yiping Shen
OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#10
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28176809/unusual-life-cycle-and-impact-on-microfibril-assembly-of-adamts17-a-secreted-metalloprotease-mutated-in-genetic-eye-disease
#11
Dirk Hubmacher, Michael Schneider, Steven J Berardinelli, Hideyuki Takeuchi, Belinda Willard, Dieter P Reinhardt, Robert S Haltiwanger, Suneel S Apte
Secreted metalloproteases have diverse roles in the formation, remodeling, and the destruction of extracellular matrix. Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. Little is known about this protease or its connection to fibrillin microfibrils, whose major component, fibrillin-1, is genetically associated with ectopia lentis and alterations in height...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28174693/fanconi-anemia-protein-fancd2-is-activated-by-aicar-a-modulator-of-ampk-and-cellular-energy-metabolism
#12
Min Jeong Chun, Hana Choi, Dong Wha Jun, Sunshin Kim, Yong-Nyun Kim, Soo-Youl Kim, Chang-Hun Lee
FANCD2 is a pivotal molecule in the pathogenesis of Fanconi anemia (FA), an autosomal recessive human syndrome with diverse clinical phenotypes, including cancer predisposition, short stature, and hematological abnormalities. In our previous study, we detected the functional association of FANC proteins, whose mutations are responsible for the onset of FA, with AMPK in response to DNA interstrand crosslinking lesions. Because AMPK is well known as a critical sensing molecule for cellular energy levels, we checked whether FANCD2 activation occurs after treatments affecting AMPK and/or cellular energy status...
February 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28173651/-rapidly-progressive-puberty-in-a-patient-with-mosaic-turner-syndrome-a-case-report-and-literature-review
#13
Y Liang, H Wei, X Yu, W Huang, X P Luo
Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28167493/smad4-regulates-growth-plate-matrix-production-and-chondrocyte-polarity
#14
Amanda T Whitaker, Ellora Berthet, Andrea Cantu, Diana J Laird, Tamara Alliston
Smad4 is an intracellular effector of the TGFβ family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints. The TGFβ pathway also plays a critical role in the development, organization and proliferation of the growth plate, although the exact mechanisms remain unclear. Skeletal phenotypes in Myhre syndrome overlap with processes regulated by the TGFβ pathway, including organization and proliferation of the growth plate and polarity of the chondrocyte...
February 6, 2017: Biology Open
https://www.readbyqxmd.com/read/28164079/short-stature-and-growth-hormone-deficiency-in-a-girl-with-encephalocraniocutaneous-lipomatosis-and-jaffe-campanacci-syndrome-a-case-report
#15
Eun Mi Choi, Nani Jung, Ye Jee Shim, Hee Joung Choi, Joon Sik Kim, Heung Sik Kim, Kwang Soon Song, Hee Jung Lee, Sang Pyo Kim
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28162960/antisense-reduction-of-mutant-comp-reduces-growth-plate-chondrocyte-pathology
#16
Karen L Posey, Francoise Coustry, Alka C Veerisetty, Mohammad Hossain, Danielle Gattis, Sheri Booten, Joseph L Alcorn, Punit P Seth, Jacqueline T Hecht
Mutations in cartilage oligomeric matrix protein cause pseudoachondroplasia, a severe disproportionate short stature disorder. Mutant cartilage oligomeric matrix protein produces massive intracellular retention of cartilage oligomeric matrix protein, stimulating ER and oxidative stresses and inflammation, culminating in post-natal loss of growth plate chondrocytes, which compromises linear bone growth. Treatments for pseudoachondroplasia are limited because cartilage is relatively avascular and considered inaccessible...
February 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#17
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28159702/a-case-of-feingold-type-2-syndrome-associated-with-keratoconus-refines-keratoconus-type-7-locus-on-chromosome-13q
#18
Fabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, Enrico Grosso, Patrizia Pappi, Flavia Talarico, Elisa Savin, Simona Cavalieri, Elisa Giorgio, Cecilia Mancini, Barbara Pasini, Jodhbir S Mehta, Alfredo Brusco
We report on a 58-year old woman with microcephaly, mild dysmorphic features, bilateral keratoconus, digital abnormalities, short stature and mild cognitive delay. Except for keratoconus, the phenotype was suggestive for Feingold syndrome type 2 (FGLDS2, MIM 614326), a rare autosomal dominant disorder described in six patients worldwide, due to the haploinsufficiency of MIR17HG, a micro RNA encoding gene. Karyotype showed a de novo deletion on chromosome 13q, further defined by array-Comparative Genomic Hybridization (a-CGH) to a 17...
January 31, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28158191/atp6v1h-deficiency-impairs-bone-development-through-activation-of-mmp9-and-mmp13
#19
Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie Maduro, John Accardi, Camilo Toro, Cornelius F Boerkoel, Karen Lyons, William A Gahl, Xiaohong Duan, May Christine V Malicdan, Shuo Lin
ATP6V1H is a component of a large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations of individuals in which short stature and osteoporosis co-segregated with a mutation in ATP6V1H. Since V-ATPases are highly conserved between human and zebrafish, we generated loss-of-function mutants in atp6v1h in zebrafish through CRISPR/Cas9-mediated gene knockout. Homozygous mutant atp6v1h zebrafish exhibited a severe reduction in the number of mature calcified bone cells and a dramatic increase in the expression of mmp9 and mmp13...
February 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28145000/filamin-b-loss-of-function-mutation-in-dimerization-domain-causes-autosomal-recessive-spondylocarpotarsal-synostosis-syndrome-with-rib-anomalies
#20
Chi-Fan Yang, Chung-Hsing Wang, Weng Siong H'ng, Chun-Ping Chang, Wei- De Lin, Yuan-Tsong Chen, Jer-Yuarn Wu, Fuu-Jen Tsai
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in FLNB and MYH3 have been reported for autosomal recessive and autosomal dominant SCT, respectively. We present a family with two patients suffering from autosomal recessive SCT with rib anomalies, including malalignment, crowding, and uneven size and shape of ribs...
February 1, 2017: Human Mutation
keyword
keyword
7519
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"