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Madelung

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https://www.readbyqxmd.com/read/28637461/prenatal-exposure-to-antifungal-medication-may-change-anogenital-distance-in-male-offspring-a-preliminary-study
#1
Djamilla Madelung Mogensen, Maria Bergkvist Pihl, Niels E Skakkebæk, Helle Raun Andersen, Anders Juul, Henriette Boye Kyhl, Shanna Swan, David Møbjerg Kristensen, Marianne Skovager Andersen, Dorte Vesterholm Lind, Tina Kold Jensen
BACKGROUND: Vaginal candidiasis is frequent among pregnant women and it is treated with anti-fungal medication (conazoles). Conazoles have anti-androgenic properties and prenatal exposure in rodents is associated with a shorter (less masculine) anogenital distance (AGD) in male offspring. To our knowledge this has never been studied in humans. METHOD: In the Odense Child Cohort pregnant women residing in Odense municipality, Denmark, were recruited at gestational age 8-16 weeks between 2010 and 2012...
June 21, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#2
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28623871/simple-computing-of-the-viscosity-of-water-dioxane-mixtures-according-to-a-fluctuating-spc-e-ih-interstitial-model
#3
Anis Ghazouani, Jalel M'halla
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 Ih 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...
June 17, 2017: Journal of Computational Chemistry
https://www.readbyqxmd.com/read/28532519/a-case-of-severe-obstructive-sleep-apnoea-in-madelung-s-disease-treated-by-lateral-pharyngoplasty
#4
V Pinto, P G Morselli, D Tassone, O Piccin
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. Polysomnography revealed severe obstructive sleep apnoea. An attempt to treat sleep apnoea by continuous positive airway pressure failed because of poor compliance...
May 23, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28438119/dfi-seq-identification-of-environment-specific-gene-expression-in-uropathogenic-escherichia-coli
#5
Michelle Madelung, Tina Kronborg, Thomas Koed Doktor, Carsten Struve, Karen Angeliki Krogfelt, Jakob Møller-Jensen
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...
April 24, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28395948/rare-case-of-madelung-s-disease
#6
Divyanshoo R Kohli, Daniel P Luppens, Scott C Matherly
No abstract text is available yet for this article.
April 7, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28266297/surgical-treatment-of-a-rare-reverse-madelung-deformity-in-11-years-female-patient
#7
Alexandru Ulici, Daniel Catalin Florea, Iulia Tevanov, Dan Zaharie, Madalina Carp
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. Although it is believed to be a congenital disorder, the symptoms are absent till late childhood...
January 2017: Chirurgia
https://www.readbyqxmd.com/read/28217351/k1-2x-ni1-x-fe2-aso4-3-x-0-125-un-nouvel-ars%C3%A3-niate-%C3%A3-structure-de-type-%C3%AE-crpo4
#8
Ridha Ben Smail, Mohamed Faouzi Zid
A new arsenate K1+2x Ni1-x Fe2(AsO4)3 (x = 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-CrPO4-structure type, space group Imma. It consists of a three-dimensional-framework built up from FeO6 and Ni0.875□1.25O6-octa-hedra and AsO4-tetra-hedra that are sharing corners and/or edges, generating tunnels running along the [010] and [001] directions in which the potassium cations are located...
February 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28104017/-lymphadenectomy-using-dissection-and-protection-of-carotid-sheath-and-main-nerves-in-surgery-for-benign-diseases-in-the-neck
#9
J Wu, Y H Liu, K L Wu, X H Li, C B Gao, Y Zhao
Objective: To investigate the significance of lymphadenectomy using dissection and protection of carotid sheath and main nerves in treating complex benign disease of neck. Methods: A total of 54 cases with benign diseases in neck who received the protective surgical treatments were reviewed. There were 25 cases of recurrent branchial fistula, 15 cases of lymphoid tuberculosis, 5 cases of cystic hygroma, 5 cases of racemose angioma, and 4 cases of Madelung's disease. According to the location and extent of disease, all cases received operation with dissection and protection of carotid sheath and main nerves to removal lesions with lymphoid tissue and fat-connective tissue...
January 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28088137/forces-on-nuclei-moving-on-autoionizing-molecular-potential-energy-surfaces
#10
Nimrod Moiseyev
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. Molecular dynamics simulations, within the framework of the Born-Oppenheimer approximation, require the definition of a force field. The ability to calculate the forces on the nuclei in bio-systems when autoionization takes place seems to rely on an understanding of radiative damages in RNA and DNA arising from the release of slow moving electrons which have long de Broglie wavelengths...
January 14, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28032179/madelung-s-disease-revision-of-59-surgical-cases
#11
Cristina Isabel Calvo Pinto, Pedro João Marques Cardoso Carvalho, Manuel Maia Oliveira Correia
BACKGROUND: Madelung's disease (MD) is a rare disease, more common in Mediterranean countries and associated with alcohol abuse. However, MD etiology remains not completely understood. OBJECTIVE: The aim of this study was to investigate clinical features, treatment options and outcomes in patients with MD treated in our plastic surgery department. METHODS: We retrospectively reviewed 59 cases of MD operated on between 2004 and 2013. Demographic information, location of the deposits, associated pathology and habits, number and type of surgeries performed, surgical complications and disease evolution were analyzed...
April 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28006884/an-awake-videolaryngoscope-assisted-intubation-in-a-patient-with-madelung-disease-and-a-critical-airway-obstruction
#12
Tatjana Stopar-Pintaric, Liljana Markova, Matevz Tomazevic, Iljaz Hodzovic
No abstract text is available yet for this article.
December 22, 2016: Minerva Anestesiologica
https://www.readbyqxmd.com/read/28004464/chemical-bonding-analysis-as-a-guide-for-the-preparation-of-new-compounds-the-case-of-virge-and-hfptge
#13
David Bende, Frank R Wagner, Olga Sichevych, Yuri Grin
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. The new phases-the high-temperature VIrGe and the low-temperature HfPtGe-showing this type of crystal structure are prepared and characterized by powder X-ray diffraction and differential thermal analysis...
December 22, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27822101/the-danish-national-chronic-myeloid-neoplasia-registry
#14
REVIEW
Marie Bak, Else Helene Ibfelt, Thomas Stauffer Larsen, Dorthe Rønnov-Jessen, Niels Pallisgaard, Ann Madelung, Lene Udby, Hans Carl Hasselbalch, Ole Weis Bjerrum, Christen Lykkegaard Andersen
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...
2016: Clinical Epidemiology
https://www.readbyqxmd.com/read/27814343/prevalence-of-shox-haploinsufficiency-among-short-statured-children
#15
Maja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, Morten Duno, Anders Juul
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...
December 14, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27795758/-erratum-madelung-s-deformity-a-case-report-and-review-of-the-literature
#16
(no author information available yet)
[This corrects the article DOI: 10.11604/pamj.2016.23.137.9002.].
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27708272/detection-of-shox-gene-aberrations-in-routine-diagnostic-practice-and-evaluation-of-phenotype-scoring-form-effectiveness
#17
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...
February 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/27676402/genotype-phenotype-relationship-in-patients-and-relatives-with-shox-region-anomalies-in-the-french-population
#18
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...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27602178/madelung-deformity
#19
Andrew Tranmer, Donald Laub
No abstract text is available yet for this article.
2016: Eplasty
https://www.readbyqxmd.com/read/27588041/rare-congenital-chromosomal-aberration-dic-x-y-p22-33-p11-32-in-a-patient-with-primary-myelofibrosis
#20
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
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