435 results match your criteria Madelung Deformity
J Oral Maxillofac Surg 2018 Nov 12. Epub 2018 Nov 12.
Professor and Department Head, INSERM U1008, Controlled Drug Delivery Systems and Biomaterials, Lille; Université Lille 2 Droit et Santé, Lille; Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, Lille, France.
One of the most common causes of short stature is a defect of the short stature homeobox-containing (SHOX) gene, which is located in pseudoautosomal region 1 on the distal end of the short arm of chromosomes Xp22.33 and Yp11.32. Read More
Ann Plast Surg 2019 Jan;82(1S Suppl 1):S66-S71
From the Division of Plastic Surgery, Department of Surgery, and.
Background: The main feature of Madelung disease (MD), a rare condition, is the growth of adipose tissue without a capsule. Usually, this disease is known for its prominent features with fat deposition around the neck, shoulder, back, or chest wall. Clinically, the patient is likely to exhibit alcohol, neuropathy, and metabolic disorders; however, no clear cause has been confirmed. Read More
Pediatr Radiol 2018 Nov 15. Epub 2018 Nov 15.
Department of Musculoskeletal Radiology,, Temple University Hospital, 3401 N. Broad St., Philadelphia, PA, 19104, USA.
Background: Focal fibrocartilaginous dysplasia is a rare growth disturbance of bone resulting in deformity. In the ulna, focal fibrocartilaginous dysplasia is particularly rare, and the characteristic fibroligamentous tether can result in progressive deformity with progressive dislocation of the radial head. The fibroligamentous tether is similar in appearance and function to the Vickers ligament seen in Madelung deformity. Read More
Skeletal Radiol 2018 Oct 20. Epub 2018 Oct 20.
Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Objective: To characterize the MRI appearance of the anomalous volar radiotriquetral ligament in cases of classic Madelung deformity.
Materials And Methods: With institutional review board approval, a search of the radiology information system was performed to identify cases of potential Madelung deformity using variations of the criteria "Madelung deformity." Cases of classic Madelung deformity were included based on the following criteria: dorsal subluxation of the ulnar head, volar tilt of the distal radius, increased radial inclination of greater than 25°, triangulation of the carpus, and presence of Vickers ligament defined as an anomalous volar radiolunate ligament. Read More
J Pediatr Endocrinol Metab 2018 Nov;31(11):1273-1278
Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Pediatric Endocrinology, Ankara, Turkey.
Background The short stature homeobox-containing (SHOX) gene strongly affects height. Therefore, a better understanding of SHOX haploinsufficiency could be advantageous to early diagnosis and treatment. We investigated the rate of SHOX haploinsufficiency in patients of short stature and documented their anthropometric measurements. Read More
J Investig Med High Impact Case Rep 2018 Jan-Dec;6:2324709618802867. Epub 2018 Sep 29.
Western University, London, Ontario, Canada.
Multiple symmetric lipomatosis (MSL), also known as Madelung disease, is a rare adult-onset disorder characterized by benign lipomatosis usually localized to the nuchal and upper thoracic region. A subset of these patients has germline variants in mitochondrial DNA. Three siblings of Northern European descent with MSL were assessed initially and provided whole blood for DNA analysis. Read More
Sci Rep 2018 Sep 24;8(1):14292. Epub 2018 Sep 24.
Department of Biological Sciences, University of Calgary, 2500 University Drive N.W., Calgary, Alberta, T2N 1N4, Canada.
Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably remove an enhancer or enhancers necessary for SHOX expression in developing limbs. We searched for these active sequences using a transgenic mouse assay and identified a 563 basepair (bp) enhancer with specific activity in the limb regions where SHOX functions. Read More
JAAD Case Rep 2018 Sep 18;4(8):822-823. Epub 2018 Sep 18.
University of Texas Health, San Antonio, Texas.
J Chem Phys 2018 Aug;149(8):084111
School of Mathematical Sciences, Institute of Natural Sciences and MoE Key Lab of Scientific and Engineering Computing, Shanghai Jiao Tong University, Shanghai 200240, China.
We propose a harmonic surface mapping algorithm (HSMA) for electrostatic pairwise sums of an infinite number of image charges. The images are induced by point sources within a box due to a specific boundary condition which can be non-periodic. The HSMA first introduces an auxiliary surface such that the contribution of images outside the surface can be approximated by the least-squares method using spherical harmonics as basis functions. Read More
Acta Ortop Mex 2018 Mar-Apr;32(2):108-111
Departamento de Genética. Facultad de Biología. Universidad de Barcelona. CIBERER, IBUB. Barcelona, España.
We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene. Read More
Hand (N Y) 2018 Aug 13:1558944718793179. Epub 2018 Aug 13.
1 University of Amsterdam, The Netherlands.
Background: Madelung deformity is a congenital wrist condition characterized by volar subluxation of the wrist caused by premature growth arrest of the distal radius. Progressive symptoms can necessitate surgical intervention, yet optimal treatment strategy remains unknown. The aim of this study is to determine treatment options, surgical indications, and operative outcomes for Madelung deformity. Read More
Autops Case Rep 2018 Jul-Sep;8(3):e2018030. Epub 2018 Jul 30.
Universidade de São Paulo (USP), Faculty of Medicine. São Paulo, SP, Brazil.
Madelung disease or multiple symmetric lipomatosis (MSL) is a rare entity among the overgrowth syndromes. It is characterized by painless non-encapsulated and symmetric fatty deposits in the neck, torso, mammary, and abdominal areas, and in the upper and lower limbs. The etiology of the disease is still unknown. Read More
J Hand Surg Am 2018 Jun 19. Epub 2018 Jun 19.
Department of Orthopedic Surgery, Nationwide Children's Hospital, Columbus, OH. Electronic address:
Purpose: To evaluate the surgical outcomes in a series of Madelung wrists treated with a Vicker ligament release at a young age. We hypothesize that early treatment of Madelung deformity with Vicker ligament release is safe and may minimize progression of deformity.
Methods: A retrospective review was performed at a single large pediatric institution from 2013 to 2016 of patients with a diagnosis of Madelung deformity treated with Vicker ligament release and radial physiolysis. Read More
J Wrist Surg 2018 Jul 14;7(3):227-231. Epub 2017 Dec 14.
Dell Medical School, The University of Texas at Austin, Austin, Texas.
Patients with Madelung deformity exhibit a spectrum of mild to severe deformity and distortion of wrist geometry. It may be difficult to reliably distinguish mild Madelung deformity from normal. This study thus tested the reliability of the diagnosis of mild Madelung deformity on a single posteroanterior (PA) radiograph. Read More
Proc Natl Acad Sci U S A 2018 06 29;115(24):6165-6170. Epub 2018 May 29.
Department of Mathematical Sciences, Chalmers University of Technology, SE-412 96 Gothenburg, Sweden.
We introduce a geometric framework to study Newton's equations on infinite-dimensional configuration spaces of diffeomorphisms and smooth probability densities. It turns out that several important partial differential equations of hydrodynamical origin can be described in this framework in a natural way. In particular, the Madelung transform between the Schrödinger equation and Newton's equations is a symplectomorphism of the corresponding phase spaces. Read More
Front Endocrinol (Lausanne) 2018 10;9:163. Epub 2018 Apr 10.
Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Perugia, Italy.
Heterozygous mutations in the gene or in the upstream and downstream enhancer elements are associated with 2-22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri-Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affected. Approximately 80-90% of pathogenic variants are deletions or duplications, and the remaining 10-20% are point mutations that primarily give rise to missense variants. The clinical interpretation of novel variants, particularly missense variants, can be challenging and can remain of uncertain significance. Read More
Int J Surg Pathol 2018 Sep 6;26(6):551-557. Epub 2018 Apr 6.
1 Department of Pathology, Odense University Hospital, Odense, Denmark.
Simultaneous presence of pancreatic serous cystic neoplasms and neuroendocrine neoplasms is rare. We present a case with the incidental finding of a duodenal neuroendocrine tumor (NET) with 2 lymph node metastases in a Whipple resection specimen performed to remove a pancreatic cystic neoplasm that postoperatively turned out to represent a serous cystic neoplasm (SCN). The patient was a 75-year-old female. Read More
J Hand Surg Am 2018 Jul 3;43(7):683.e1-683.e5. Epub 2018 Mar 3.
Department of Orthopaedics, Hospital Santa Casa de Misericórdia, Porto Alegre, Brazil.
A 40-year-old woman presented with Madelung deformity and severe arthritic changes at both the radiocarpal and the distal radioulnar joints. She was treated by using her lunate as an osteochondral graft into the radius allowing reconstruction of the lunate fossa. The scaphoid and triquetrum were removed concomitantly and a Sauve-Kapandji procedure was performed. Read More
Sci Rep 2018 Mar 5;8(1):3988. Epub 2018 Mar 5.
Graduate School of Pure and Applied Sciences, University of Tsukuba, Ibaraki, 305-8571, Japan.
Layered oxide Na MO (M: transition metal) is a promising cathode material for sodium-ion secondary battery. Crystal structure of O3- and P2-type Na MO with various M against temperature (T) was systematically investigated by synchrotron x-ray diffraction mainly focusing on the T-dependences of a- and c-axis lattice constants (a and c) and z coordinate (z) of oxygen. Using a hard-sphere model with minimum Madelung energy, we confirmed that c/a and z values in O3-type Na MO were reproduced. Read More
J Phys Chem B 2018 03 14;122(12):3196-3201. Epub 2018 Mar 14.
National Laboratory of Solid State Microstructures and Department of Physics, Collaborative Innovation Center of Advanced Microstructures , Nanjing University , Nanjing 210093 , China.
The implementation of non-close-packed structures in colloids is challenging. Using Brownian dynamics simulations, we study the nonequilibrium self-assembly in suspensions of oppositely charged particles, whose charge magnitude is responsive to the pH of the solution. Under the fast pH-oscillating condition, various non-close-packed (e. Read More
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2018 Mar 21;162(1):65-70. Epub 2018 Feb 21.
Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic.
Background: Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce.
Methods And Results: We report a unique case of an 8-year-old girl who was successfully treated for acute lymphoblastic leukemia (pre-B ALL, intermediate risk) and was subsequently diagnosed with LWS due to characteristic clinical appearance (short disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX). Read More
Zhongguo Gu Shang 2017 Oct;30(10):976-978
The 2nd Department of Orthopaedics, Gansu Provincial Hospital, Lanzhou 730000, Gansu, China.
Madelung deformity is a rare deformity of forearm and wrist caused by growth disorders of distal radius ulnar and palmar epiphyseal. Current studies showed that its incidence mainly associated with trauma, epiphyseal developmental abnormalities, nutritional disorders and genetic deletion or mutation. The early clinical presentation is not typical, in middle and late time, wrist deformity and weak can appear. Read More
Zhongguo Gu Shang 2017 Oct;30(10):965-967
WangJing Hospital of CACMS, Beijing 100102, China;
Eur J Hum Genet 2018 03 12;26(3):350-358. Epub 2018 Jan 12.
South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. Read More
J Am Chem Soc 2017 12 14;139(51):18725-18731. Epub 2017 Dec 14.
Department of Energy and Hydrocarbon Chemistry, Graduate School of Engineering, Kyoto University , Nishikyo-ku, Kyoto 615-8510, Japan.
A layered oxychloride BiNbOCl is a visible-light responsive catalyst for water splitting, with its remarkable stability ascribed to the highly dispersive O-2p orbitals in the valence band, the origin of which, however, remains unclear. Here, we systematically investigate four series of layered bismuth oxyhalides, BiOX (X = Cl, Br, I), BiNbOX (X = Cl, Br), BiGdOX (X = Cl, Br), and SrBiOX (X = Cl, Br, I), and found that Madelung site potentials of anions capture essential features of the valence band structures of these materials. The oxide anion in fluorite-like blocks (e. Read More
J Pediatr Adolesc Gynecol 2018 Apr 14;31(2):138-139. Epub 2017 Nov 14.
University of Oklahoma Health Sciences Center, Department of Pediatrics, Section of Adolescent Medicine, Oklahoma City, Oklahoma. Electronic address:
Background: Patients' underlying medical conditions might affect the presentation and progression of an eating disorder.
Case: We describe a patient with an undiagnosed, rare, genetic skeletal dysplasia with effects on body mass index that likely led to body image distortion and delayed the diagnosis of an eating disorder.
Summary And Conclusion: It is critical to fully assess disordered eating in the context of each patient's clinical status. Read More
J Chem Theory Comput 2017 Dec 15;13(12):6043-6051. Epub 2017 Nov 15.
Department of Chemistry, University of California, Riverside , Riverside, California 92521, United States.
Fragment-based methods predict nuclear magnetic resonance (NMR) chemical shielding tensors in molecular crystals with high accuracy and computational efficiency. Such methods typically employ electrostatic embedding to mimic the crystalline environment, and the quality of the results can be sensitive to the embedding treatment. To improve the quality of this embedding environment for fragment-based molecular crystal property calculations, we borrow ideas from the embedded ion method to incorporate self-consistently polarized Madelung field effects. Read More
J Hand Surg Asian Pac Vol 2017 Dec;22(4):538-543
* Department of Orthopaedic Surgery, Surgical Science, Tokai University School of Medicine, Kanagawa, Japan.
A variety of osteotomies have been reported to correct Madelung deformity using plain radiographs. However, evaluation of the deformity using 2-dimensional plain radiography is difficult because of its complex 3-dimensional nature. Therefore, we performed corrective osteotomy using recently developed 3D simulation technology on an adult woman with Madelung deformity, and achieved an excellent outcome. Read More
ACS Appl Mater Interfaces 2017 Oct 9;9(41):36377-36384. Epub 2017 Oct 9.
Ningbo Institute of Material Technology and Engineering, Chinese Academy of Sciences , Ningbo 315201, People's Republic of China.
The degradation mechanism of dimethyl carbonate electrolyte dissociation on the (010) surfaces of LiCoO and delithiated LiCoO were investigated by periodic density functional theory. The high-throughput Madelung matrix calculation was employed to screen possible LiCoO supercells for models of the charged state at 4.5 V. Read More
Acta Neurol Scand 2018 Jan 14;137(1):125-132. Epub 2017 Sep 14.
Department of Neurology, Bispebjerg Hospital, Copenhagen, Denmark.
Objectives: Perfusion through leptomeningeal collateral vessels is a likely pivotal factor in the outcome of stroke patients. We aimed to investigate the effect of collateral status on outcome in a cohort of unselected, consecutive stroke patients with middle cerebral artery occlusion undergoing reperfusion therapy.
Materials And Methods: This retrospectively planned analysis was passed on prospectively collected data from 187 consecutive patients with middle cerebral artery occlusion admitted within 4. Read More
J Mol Model 2017 Aug 25;23(9):271. Epub 2017 Aug 25.
Departamento de Física, Facultad de Ciencias, Universidad de Chile, Casilla 653, 7800024, Santiago, Chile.
Conceptual DFT and quantum chemical topology provide two different approaches based on the electron density to grasp chemical concepts. We present a model merging both approaches, in order to obtain physical properties from chemically meaningful fragments (bonds, lone pairs) in the solid. One way to do so is to use an energetic model that includes chemical quantities explicitly, so that the properties provided by conceptual DFT are directly related to the inherent organization of electrons within the regions provided by topological analysis. Read More
Orv Hetil 2017 Aug;158(34):1351-1356
Csolnoky Ferenc Kórház Veszprém.
Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome.
Aim: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. Read More
Inorg Chem 2017 Sep 16;56(17):10535-10542. Epub 2017 Aug 16.
Laboratory for Materials and Structures, Institute of Innovative Research, Tokyo Institute of Technology , Mailbox R3-1, 4259 Nagatsuta-cho, Midori-ku, Yokohama 226-8503, Japan.
The electronic structures of 35 ABO ternary cubic perovskite oxides, including their hypothetical chemical compositions, were calculated by a hybrid functional method with the expectation that peculiar electronic structures and unique carrier transport properties suitable for semiconductor applications would be hidden in high-symmetry cubic perovskite oxides. We found unique electronic structures of Si-based oxides (A = Mg, Ca, Sr, and Ba, and B = Si). In particular, the unreported cubic BaSiO has a very narrow band gap (4. Read More
Open Access Maced J Med Sci 2017 Jul 19;5(4):427-431. Epub 2017 Jul 19.
Center for Physical and Rehabilitative Medicine, Hospital Dresden-Friedrichstadt, Academic Teaching Hospital, Friedrichstrasse 41, 01067, Dresden, Germany.
Madelung disease is a disfiguring disorder belonging to the heterogeneous group of lipomatosis. The aetiology is not well understood, but alcohol consumption has been regarded as of importance. The reported incidence is about 1 in 25,000 inhabitants. Read More
J Comput Chem 2017 Aug 17;38(22):1952-1965. Epub 2017 Jun 17.
Department of Chemistry, Faculty of Sciences of Monastir, UR "Electrolytes," University of Monastir, Monastir, 5000, Tunisia.
In this contribution, we propose a new simple and fast computing approach to model liquid water and water-1,4 dioxane mixture, which is intermediate between molecular dynamics calculation and lattice fluid H-bonding theory in which water molecules are arranged according to a fluctuating hexagonal I network. It generalizes the interstitial mixture models of Samoilov and Pauling by increasing the number of spatial configurations into the space of phases due to the addition of rotations and vibrations of the molecules around their equilibrium positions. The potential energy landscape is determined by the generalization of the Madelung's approach to the molecular water network using simple point charge model (SPC/E partial charges). Read More
J Laryngol Otol 2017 Sep 23;131(9):834-837. Epub 2017 May 23.
Department of Otolaryngology Head and Neck Surgery,S Orsola-Malpighi University Hospital,Bologna,Italy.
Background: Madelung's disease is a rare disorder characterised by the presence of multiple, symmetric, non-capsulated fat masses in the face, neck and other areas of upper extremities. In some cases, severe clinical complications such as upper airway compression can occur.
Case Report: A 56-year-old man affected by Madelung's disease complained of snoring and severe daytime sleepiness. Read More
BMC Microbiol 2017 04 24;17(1):99. Epub 2017 Apr 24.
Department of Biochemistry and Molecular Biology, University of Southern Denmark, Campusvej 55, 5230, Odense M, Denmark.
Background: During infection of the urinary tract, uropathogenic Escherichia coli (UPEC) are exposed to different environments, such as human urine and the intracellular environments of bladder epithelial cells. Each environment elicits a distinct bacterial environment-specific transcriptional response. We combined differential fluorescence induction (DFI) with next-generation sequencing, collectively termed DFI-seq, to identify differentially expressed genes in UPEC strain UTI89 during growth in human urine and bladder cells. Read More
Reumatol Clin 2018 Jan - Feb;14(1):60-61. Epub 2017 Apr 14.
Endocrinología Pediátrica, Hospital La Paz, Madrid, España.
Br J Dermatol 2017 12 8;177(6):e321-e322. Epub 2017 Oct 8.
Department of Dermatology and Allergy, Herlev and Gentofte Hospital, University of Copenhagen, Denmark.
Chirurgia (Bucur) 2017 Jan-Feb;112(1):72-76
Madelung deformity is an abnormality of the distal part of the forearm due to a growth arrest in the distal radial physis creating an increase of the radial tilt angle associated with a dorsal subluxation of the distal ulna in most cases. It is a rare condition which represents only 1.7% of hand deformities being characterized by the presence of an abnormal structure, Vickers ligament, that tethers the distal radius to the lunate bone. Read More
Acta Crystallogr E Crystallogr Commun 2017 Feb 24;73(Pt 2):239-245. Epub 2017 Jan 24.
Université de Tunis El Manar, Faculté des Sciences de Tunis, Laboratoire de Matériaux, Cristallochimie et Thermodynamique Appliquée, 2092 El Manar II, Tunis, Tunisia.
A new arsenate K Ni Fe(AsO) ( = 1/8) {potassium nickel diiron(III) tris-[arsenate(V)]} was synthesized using a flux method and its crystal structure was determined from single-crystal X-ray diffraction data. This material was also characterized by qualitative energy dispersive X-ray spectroscopy (EDS) analysis. The crystal structure belongs to the α-CrPO-structure type, space group . Read More
J Chem Phys 2017 Jan;146(2):024101
Schulich Faculty of Chemistry, Institute of Solid State, and Faculty of Physics, Technion-Israel Institute of Technology, Haifa 32000, Israel.
Autoionization of molecular systems occurs in diatomic molecules and in small biochemical systems. Quantum chemistry packages enable calculation of complex potential energy surfaces (CPESs). The imaginary part of the CPES is associated with the autoionization decay rate, which is a function of the molecular structure. Read More
Minerva Anestesiol 2017 Jun 22;83(6):660-662. Epub 2016 Dec 22.
Department of Anesthesia, Intensive Care and Pain Medicine, Cardiff University, Cardiff, UK.
Angew Chem Int Ed Engl 2017 Jan 22;56(5):1313-1318. Epub 2016 Dec 22.
Max-Planck-Institut für Chemische Physik fester Stoffe, Chemische Metallkunde, Nöthnitzer Strasse 40, 01187, Dresden, Germany.
The chemical bonding of transition metal compounds with a MgAgAs-type of crystal structure is analyzed with quantum chemical position-space techniques. The observed trends in QTAIM Madelung energy and nearest neighbor electron sharing explain the occurrence of recently synthesized MgAgAs-type compounds, TiPtGe and TaIrGe, at the boundary to the TiNiSi-type crystal structure. These bonding indicators are used to identify favorable element combinations for new MgAgAs-type compounds. Read More
Am J Med Sci 2016 Dec 14;352(6):654. Epub 2016 Jun 14.
Division of Emergency and Critical Care Radiology, Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan. Electronic address:
Clin Epidemiol 2016 25;8:567-572. Epub 2016 Oct 25.
Department of Hematology, Zealand University Hospital, University of Copenhagen, Roskilde; Department of Hematology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Aim: The Danish National Chronic Myeloid Neoplasia Registry (DCMR) is a population-based clinical quality database, introduced to evaluate diagnosis and treatment of patients with chronic myeloid malignancies. The aim is to monitor the clinical quality at the national, regional, and hospital departmental levels and serve as a platform for research.
Study Population: The DCMR has nationwide coverage and contains information on patients diagnosed at hematology departments from January 2010 onward, including patients with essential thrombocythemia, polycythemia vera, myelofibrosis, unclassifiable myeloproliferative neoplasms, chronic myelomonocytic leukemia, and chronic myeloid leukemia. Read More
Pediatr Res 2017 02 4;81(2):335-341. Epub 2016 Nov 4.
Department of Growth and Reproduction, Rigshospitalet, DK-2100 Copenhagen, Denmark.
Background: The aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements.
Methods: 574 short statured patients were evaluated in a single center (1992-2015). SHOX copy number was detected by quantitative polymerase chain reaction (qPCR) in 574 subjects, followed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing in subjects with SHOX haploinsufficiency. Read More
BMJ 2016 Oct 6;355:i4925. Epub 2016 Oct 6.
Department of Hepatology, Liver Research Center, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China