Read by QxMD icon Read


Katerina Hirschfeldova, Martina Florianova, Vera Kebrdlova, Marketa Urbanova, Jitka Stekrova
Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype 'scoring form' in patients indicated for SHOX gene defect analysis. The submitted study is based on a retrospective group of 352 unrelated patients enrolled as a part of the routine diagnostic practice and analyzed for aberrations affecting the SHOX gene. All participants were scanned for deletion/duplication within the main pseudoautosomal region (PAR1) using the multiplex ligation-dependent probe amplification (MLPA) method...
October 6, 2016: Journal of Human Genetics
Julie Auger, Amandine Baptiste, Imane Benabbad, Gaëlle Thierry, Jean-Marc Costa, Mélanie Amouyal, Marie-Laure Kottler, Bruno Leheup, Renaud Touraine, Sébastien Schmitt, Marine Lebrun, Valérie Cormier Daire, Jean-Paul Bonnefont, Nicolas de Roux, Caroline Elie, Myriam Rosilio
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. METHODS: We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis...
September 28, 2016: Hormone Research in Pædiatrics
Andrew Tranmer, Donald Laub
No abstract text is available yet for this article.
2016: Eplasty
Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova, Kyra Michalova
BACKGROUND: Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X;Y), giving rise to a derived chromosome with the centromeres of both the X and Y chromosomes, dic(X;Y). Here, we report a rare congenital chromosomal aberration, 46,X,dic(X;Y)(p22.33;p11.32)[20]/45,X[10], in an adult male. CASE PRESENTATION: Primary myelofibrosis, a malignant haematological disease, was diagnosed in a 63-year-old man following liver transplantation after hepatocellular carcinoma...
2016: Molecular Cytogenetics
Rui-Qi Png, Mervin C Y Ang, Meng-How Teo, Kim-Kian Choo, Cindy Guanyu Tang, Dagmawi Belaineh, Lay-Lay Chua, Peter K H Ho
The standard polaron band model of doped organic semiconductors predicts that density-of-states shift into the π-π* gap to give a partially filled polaron band that pins the Fermi level. This picture neglects both Madelung and Hubbard interactions. Here we show using ultrahigh workfunction hole-doped model triarylamine-fluorene copolymers that Hubbard interaction strongly splits the singly-occupied molecular orbital from its empty counterpart, while Madelung (Coulomb) interactions with counter-anions and other carriers markedly shift energies of the frontier orbitals...
2016: Nature Communications
Vibe Skov, Mark Burton, Mads Thomassen, Thomas Stauffer Larsen, Caroline H Riley, Ann Brinch Madelung, Lasse Kjær, Henrik Bondo, Inger Stamp, Mats Ehinger, Rasmus Dahl-Sørensen, Nana Brochmann, Karsten Nielsen, Jürgen Thiele, Morten K Jensen, Ole Weis Bjerrum, Torben A Kruse, Hans Carl Hasselbalch
Recent studies have shown that a large proportion of patients classified as essential thrombocythemia (ET) actually have early primary prefibrotic myelofibrosis (prePMF), which implies an inferior prognosis as compared to patients being diagnosed with so-called genuine or true ET. According to the World Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between them may be challenging and several studies have not been able to distinguish between them...
2016: PloS One
Frédéric Aitken, Nelly Bonifaci, Klaus von Haeften, Jussi Eloranta
The Orsay-Trento bosonic density functional theory model is extended to include dissipation due to the viscous response of superfluid (4)He present at finite temperatures. The viscous functional is derived from the Navier-Stokes equation by using the Madelung transformation and includes the contribution of interfacial viscous response present at the gas-liquid boundaries. This contribution was obtained by calibrating the model against the experimentally determined electron mobilities from 1.2 K to 2.1 K along the saturated vapor pressure line, where the viscous response is dominated by thermal rotons...
July 28, 2016: Journal of Chemical Physics
Ali Al Kaissi, Maher Ben Ghachem, Farid Ben Chehida, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
BACKGROUND: We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS: Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects...
August 2016: Journal of Clinical Medicine Research
Maria Giulia Cristofaro, Walter Colangeli, Umberto Riccelli, Mario Giudice
UNLABELLED: Lipomas are the most common benign soft tissue mesenchymal tumours composed of mature adipose tissue. They are uncommon in the oral and maxillofacial regions, with 15-20 % of cases involving the head and neck region and less than 5% of all benign oral lesions. Multiple symmetric lipomatosis is rare and characterized by diffuse growth and nonencapsulated lipomas. It is usually found in the posterior neck and upper trunk and they are relatively infrequent on the oral and maxillofacial regions like Madelung disease...
2016: Annali Italiani di Chirurgia
Chun-Ye Chen, Min-Xia Zhang, Chun-Lan Huang, Qing-Qing Fang, Xiao-Wei Wang, Ji-Hua Xu, Chang-Qian Bao, Zi-Meng Xu, Wei-Qiang Tan
No abstract text is available yet for this article.
September 2016: Annals of Plastic Surgery
Kouassi Kouame Jean Eric, Yao Loukou Blaise, Krah Koffi Leopold, Sery Bada Justin Léopold Niaore, M'bra Kouamé Innocent, Assere Yao Aboh Ganyn Robert Arnaud, Kodo Michel
Madelung's disease is a wrist deformity due to atrophy of the medial portion of the distal radial growth plate. It results in carpal anteromedial subluxation, limiting the range of motion. This skeletal dysplasia is rare and represents 1.7% of birth defects. The authors report a bilateral case in a 21 year old girl. This observational study allowed us to study the frequency, the signs and the means of diagnosis as well as adequate therapeutic measurements, in order to meet the expectations of patients.
2016: Pan African Medical Journal
Luz Marina Calvo Hernadez, Eduardo Riol López, Luis Peña Ferrera, Rosa Apolinario Hidalgo
No abstract text is available yet for this article.
May 30, 2016: Medicina Clínica
Sayantan Ray, Partha Pratim Chakraborty, Subhodip Pramanik, Subhankar Chowdhury
No abstract text is available yet for this article.
2016: BMJ Case Reports
Craig P Plaisance, Karsten Reuter, Rutger A van Santen
Density functional theory is used to examine the changes in electronic structure that occur during the oxygen evolution reaction (OER) catalyzed by active sites on three different surface terminations of Co3O4. These three active sites have reactive oxo species with differing degrees of coordination by Co cations - a μ(3)-oxo on the (311) surface, a μ(2)-oxo on the (110)-A surface, and an η-oxo on the (110)-B surface. The kinetically relevant step on all surfaces over a wide range of applied potentials is the nucleophilic addition of water to the oxo, which is responsible for formation of the O-O bond...
July 4, 2016: Faraday Discussions
Chikashi Takeda, Yoshihumi Naito, Ikuko Miyawaki, Kazuo Yamazaki
Madelung's disease is a rare disorder characterized by multiple, symmetric fatty tissues. The patient, 72-year-old man was admitted to our hospital for abdominal surgery for liver cancer. He had extreme fatty accumulations involving head and neck. We expected difficult airway because of his fatty tissues, and we perfomed awake intubation by Airway Scope. We confirmed the airway by using tube exchanger at extubation. We should choose a proper airway management technique to reduce the incidences of airway complications...
February 2016: Masui. the Japanese Journal of Anesthesiology
Zhenlian Chen, Jun Li
A new direct summation method, named as polyhedron method, is proposed to calculate Madelung energy. This method calculates sums of electrostatic interactions over sets of neutral polyhedron unit pairs rather than conventional ion pairs; this gives Madelung constant in a matrix. With robustly rapid convergence, polyhedron method is generally applicable for complex compounds containing multiple polyhedral building-blocks and numerical polyhedral connection modes. The matrical analysis suggests face-sharing between octahedral pairs and edge-sharing between tetrahedral pairs can be electrostatically stable, against Pauling's third rule...
June 15, 2016: Journal of Computational Chemistry
Elijah E Gordon, Hongjun Xiang, Jürgen Köhler, Myung-Hwan Whangbo
The spins of the low-spin Ir(4+) (S = 1/2, d(5)) ions at the octahedral sites of the oxides Sr3NiIrO6, Sr2IrO4, and Na2IrO3 exhibit preferred orientations with respect to their IrO6 octahedra. We evaluated the magnetic anisotropies of these S = 1/2 ions on the basis of density functional theory (DFT) calculations including spin-orbit coupling (SOC), and probed their origin by performing perturbation theory analyses with SOC as perturbation within the LS coupling scheme. The observed spin orientations of Sr3NiIrO6 and Sr2IrO4 are correctly predicted by DFT calculations, and are accounted for by the perturbation theory analysis...
March 21, 2016: Journal of Chemical Physics
Linlin Li, Xiuli Zhang, Hui Liu
Benign symmetrical lipomatosis (BSL), or Madelung's disease, is a rare disease characterized by he progressive growth of diffuse, painless, non-enveloped symmetric lipomas at typical sites in the body. The etiology of this disease remains unknown. A disturbance of lipid metabolism is involved, and there is a proven connection with chronic alcoholism. Problems with the differential diagnosis of the characteristic clinical picture arise from the fact that this disease is not widely recognized. Surgical lipectomy in several sessions can relieve pressure and provide satisfactory patient functional recovery as well as cosmetic disfiguration...
November 2015: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Giuseppe Nisi, Andrea Sisti
A 48-year-old man presented to the clinic for evaluation of dysphagia and limited neck movements (flexion and rotation of the head). The patient was found to have Madelung’s disease, also known as benign symmetric lipomatosis or the Launois–Bensaude syndrome. Madelung’s disease is a rare condition..
February 11, 2016: New England Journal of Medicine
Htoo Kyaw, Michael Grillo, Aung Naing Lin, David A Kapp
Madelung's disease is a neglected metabolic disease characterised by generalised multiple fatty tissue deposits. A 64-year-old Caucasian woman presented with generalised weakness and symptomatic hypoglycaemia with altered mental status. Physical examination showed very distinct physical characteristics with multiple lumps distributed over the upper body. Her neurological symptoms were solved by giving intravenous glucose and optimisation of medical treatment. Even though she had unique characteristics of Madelung's disease, many physicians, on several occasions, failed to recognise her 'hidden diagnosis'...
2016: BMJ Case Reports
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"