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https://www.readbyqxmd.com/read/28719049/pulmonary-vein-stenosis-in-patients-with-smith-lemli-opitz-syndrome
#1
Aaron R Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E Roberts
OBJECTIVE: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders. DESIGN: Retrospective case series. PATIENTS: Five subjects in a pulmonary vein stenosis cohort of 170 subjects were diagnosed with Smith-Lemli-Opitz syndrome soon after birth. RESULTS: All five cases were diagnosed with Smith-Lemli-Opitz syndrome within 6 weeks of life, with no family history of either disorder...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28713574/preliminary-study-of-ectoparasites-of-horses-in-the-western-highlands-of-cameroon
#2
Vincent Khan Payne, Fidelia Lem Mbafor, Josué Wabo Pone, Joseph Tchoumboué
To evaluate the prevalence of infestation of ectoparasites of horses, a total of 894 horses (367 males and 527 females), aged 1-7 years old were examined. Horses were groomed for collection of ectoparasites. Out of the horses examined, 164 came from Fundong, 80 from Acha, 30 from Fongo-Tongo, 30 from Fokoue and 17 from Dschang, all of which were infested with ectoparasites. Five hundred and seventy-three (573) horses came from Banso and 99.48% were infested by ectoparasites. From the results obtained, three species of hard ticks (Boophilus decoloratus, Amblyomma hebraeum and Hyalomma rufipes) and one species of biting lice (Bovicola equi) were identified...
May 2017: Veterinary Medicine and Science
https://www.readbyqxmd.com/read/28711878/fat-mass-lowers-the-response-to-tumor-necrosis-factor-%C3%AE-blockers-in-patients-with-ankylosing-spondylitis
#3
Sebastián E Ibáñez Vodnizza, Michael T Nurmohamed, Ingrid M Visman, J Christiaan van Denderen, Willem F Lems, Francisca Jaime, Irene E van der Horst-Bruinsma
OBJECTIVE: Our main objective was to assess the relationship between body composition (BC) and response to tumor necrosis factor-α (TNF-α) blocker treatment in patients with ankylosing spondylitis (AS). Our secondary objective was to evaluate the change of BC after treatment, accounting for sex and age. METHODS: All included patients fulfilled the modified New York criteria for AS and were naive to TNF-α blocker. They were followed for at least 6 months after the start of etanercept or adalimumab...
July 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28695360/erratum-to-lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#4
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
No abstract text is available yet for this article.
July 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28691638/maternal-late-pregnancy-anxiety-and-stress-is-associated-with-children-s-health-a-longitudinal-study
#5
Maartje A C Zijlmans, Roseriet Beijers, Marianne J Riksen-Walraven, Carolina de Weerth
AIM: Maternal prenatal anxiety and stress (PNS) have been positively associated to physical health prob lems in offspring in the first year of life. Whether these associations are transient, persistent, or even progressive over time, is as yet unknown. The goal of this study is to investigate associations between late pregnancy PNS and child health from 18 months to age 6. METHODS: Mothers were recruited in late pregnancy, and had uncomplicated, singleton pregnancies without physical health problems...
July 9, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/28686747/functional-analysis-of-the-zebrafish-ortholog-of-hmgcs1-reveals-independent-functions-for-cholesterol-and-isoprenoids-in-craniofacial-development
#6
Anita M Quintana, Jose A Hernandez, Cesar G Gonzalez
There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understood, primarily because of the diverse functions associated with the cholesterol synthesis pathway. Recent evidence has demonstrated that mutation of the zebrafish ortholog of HMGCR results in orofacial clefts. Here we sought to expand upon these data, by deciphering the cholesterol dependent functions of the cholesterol synthesis pathway from the cholesterol independent functions...
2017: PloS One
https://www.readbyqxmd.com/read/28684548/lem-domain-proteins-are-lost-during-human-spermiogenesis-but-baf-and-baf-l-persist
#7
Razan A Elkhatib, Marine Paci, Romain Boissier, Guy Longepied, Yasmina Auguste, Vincent Achard, Patrice Bourgeois, Nicolas Levy, Nicolas Branger, Michael J Mitchell, Catherine Metzler-Guillemain
During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process is reversed in the oocyte to form the male pronucleus. Emerging evidence, including the coordinated loss of the nuclear lamina (NL) and the histones, supports the involvement of the NL in spermatid nuclear remodelling, but how the NL links to the chromatin is not known. In somatic cells, interactions between the NL and the chromatin have been demonstrated: LEM-domain proteins and LBR interact with the NL and, respectively, the chromatin proteins BAF and HP1...
July 6, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#8
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
July 4, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28670903/highly-fluorescent-red-light-emitting-bis-boranils-based-on-naphthalene-backbone
#9
Mateusz Urban, Krzysztof Durka, Piotr Jankowski, Janusz Serwatowski, Sergiusz Lulinski
Ten bis(boranils) differently substituted at the boron atom and iminophenyl groups were synthesized from 1,5-dihydroxynaphthalene-2,6-dicarboxaldehyde using a simple one-pot protocol. Their photophysical properties can be easily tuned in a wide range by the variation of substituents. Their absorption and emission spectral bands are significantly red-shifted (lmax = 495-590 nm, lem = 533-683 nm) when compared with simple boranils, whereas fluorescence quantum yields are strongly improved to reach 83%. The attachment of pendant NO2 and NEt2 groups at the opposite positions of the p-conjugated bis(boranil) scaffold resulted in the formation of an unprecedented system featuring push-pull architecture...
July 3, 2017: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28668644/an-inner-nuclear-membrane-protein-induces-rapid-differentiation-of-human-induced-pluripotent-stem-cells
#10
Cecilia Bergqvist, Mohammed Hakim Jafferali, Santhosh Gudise, Robert Markus, Einar Hallberg
The ability of iPSCs (induced pluripotent stem cells) to generate any cell type in the body makes them valuable tools for cell replacement therapies. However, differentiation of iPSCs can be demanding, slow and variable. During differentiation chromatin is re-organized and silent dense heterochromatin becomes tethered to the nuclear periphery by processes involving the nuclear lamina and proteins of the INM (inner nuclear membrane). The INM protein, Samp1 (Spindle Associated Membrane Protein 1) interacts with Lamin A/C and the INM protein Emerin, which has a chromatin binding LEM (Lap2-Emerin-Man1)-domain...
June 22, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28667255/circulating-biomarkers-to-identify-responders-in-cardiac-cell-therapy
#11
Jesse V Jokerst, Nicholas Cauwenberghs, Tatiana Kuznetsova, Francois Haddad, Timothy Sweeney, Jiayi Hou, Yael Rosenberg-Hasson, Eric Zhao, Robert Schutt, Roberto Bolli, Jay H Traverse, Carl J Pepine, Timothy D Henry, Ivonne H Schulman, Lem Moyé, Doris A Taylor, Phillip C Yang
Bone marrow mononuclear cell (BM-MNC) therapy in ST-elevation acute myocardial infarction (STEMI) has no biological inclusion criteria. Here, we analyzed 63 biomarkers and cytokines in baseline plasma samples from 77 STEMI patients treated with BM-MNCs in the TIME and Late-TIME trials as well as 61 STEMI patients treated with placebo. Response to cell therapy was defined by changes in left ventricular ejection fraction, systolic/diastolic volumes, and wall motion indexes. We investigated the clinical value of circulating proteins in outcome prediction using significance testing, partial least squares discriminant analysis, and receiver operating characteristic (ROC) analysis...
June 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28667212/seroprevalence-of-hepatitis-b-virus-infection-in-cameroon-a-systematic-review-and-meta-analysis
#12
Jean Joel Bigna, Marie A Amougou, Serra Lem Asangbeh, Angeladine Malaha Kenne, Steve Raoul N Noumegni, Elodie T Ngo-Malabo, Jean Jacques Noubiap
OBJECTIVE: Better knowledge of hepatitis B virus (HBV) infection prevalence at the national level can help to implement pertinent strategies to address HBV related burden. The aim was to estimate the seroprevalence of HBV infection in Cameroon. DESIGN: Systematic review and meta-analysis. PARTICIPANTS: People residing in Cameroon. DATA SOURCES: Electronic databases including PubMed/MEDLINE, African Journals Online (AJOL), ScienceDirect, WHO-Afro Library, WHO-IRIS, African Index Medicus, National Institute of Statistics and National AIDS Control Committee, Cameroon; regardless of language and from 1 January 2000 to 30 September 2016...
June 30, 2017: BMJ Open
https://www.readbyqxmd.com/read/28661545/nonlinear-relationship-between-isokinetic-muscle-strength-and-activity-limitations-in-patients-with-knee-osteoarthritis-results-of-the-amsterdam-osteoarthritis-cohort
#13
Lisa M Edelaar, Jaap H van Dieën, Martin van der Esch, Leo D Roorda, Joost Dekker, Willem F Lems, Marike van der Leeden
OBJECTIVE: To investigate whether relationships between upper leg muscle strength and activity limitations are non-linear in patients with knee osteoarthritis, and, if so, to determine muscle strength thresholds for limitations in daily activities. DESIGN: Baseline data were used for 562 patients with knee osteoarthritis in the Amsterdam-Osteoarthritis cohort. Upper leg muscle strength (Nm/kg) was measured isokinetically. Activity limitations were measured with the timed Get Up and Go test and timed Stair Climb Test, subdivided into stair-ascent and stair-descent...
June 29, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28642676/international-society-of-sports-nutrition-position-stand-protein-and-exercise
#14
REVIEW
Ralf Jäger, Chad M Kerksick, Bill I Campbell, Paul J Cribb, Shawn D Wells, Tim M Skwiat, Martin Purpura, Tim N Ziegenfuss, Arny A Ferrando, Shawn M Arent, Abbie E Smith-Ryan, Jeffrey R Stout, Paul J Arciero, Michael J Ormsbee, Lem W Taylor, Colin D Wilborn, Doug S Kalman, Richard B Kreider, Darryn S Willoughby, Jay R Hoffman, Jamie L Krzykowski, Jose Antonio
The International Society of Sports Nutrition (ISSN) provides an objective and critical review related to the intake of protein for healthy, exercising individuals. Based on the current available literature, the position of the Society is as follows:An acute exercise stimulus, particularly resistance exercise, and protein ingestion both stimulate muscle protein synthesis (MPS) and are synergistic when protein consumption occurs before or after resistance exercise.For building muscle mass and for maintaining muscle mass through a positive muscle protein balance, an overall daily protein intake in the range of 1...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28638036/-seronegative-nonparaneoplastic-lambert-eaton-myasthenic-syndrome
#15
A G Sanadze, D V Sidnev, D A Tumurov
The authors studied two patients with Lambert-Eaton myasthenic syndrome (LEMS) in whom the repeated examination did not find specific of LEMS P/Q type voltage-gates calcium channel autoantibodies. The results of clinical testing and electrophysiological examination showed the typical character of movement disorders with the absence of tendon reflexes and signs of disautonomia as well as a decrease in M-response amplitude and phenomena of decrement with low frequency- and increment with high frequency stimulation...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28630601/international-society-of-sports-nutrition-position-stand-diets-and-body-composition
#16
REVIEW
Alan A Aragon, Brad J Schoenfeld, Robert Wildman, Susan Kleiner, Trisha VanDusseldorp, Lem Taylor, Conrad P Earnest, Paul J Arciero, Colin Wilborn, Douglas S Kalman, Jeffrey R Stout, Darryn S Willoughby, Bill Campbell, Shawn M Arent, Laurent Bannock, Abbie E Smith-Ryan, Jose Antonio
Position Statement: The International Society of Sports Nutrition (ISSN) bases the following position stand on a critical analysis of the literature regarding the effects of diet types (macronutrient composition; eating styles) and their influence on body composition. The ISSN has concluded the following. 1) There is a multitude of diet types and eating styles, whereby numerous subtypes fall under each major dietary archetype. 2) All body composition assessment methods have strengths and limitations. 3) Diets primarily focused on fat loss are driven by a sustained caloric deficit...
2017: Journal of the International Society of Sports Nutrition
https://www.readbyqxmd.com/read/28623849/population-pharmacokinetics-pharmacodynamics-of-3-4-diaminopyridine-free-base-in-patients-with-lambert-eaton-myasthenia
#17
Nilay Thakkar, Jeffrey T Guptill, Kathy Aleš, David Jacobus, Laura Jacobus, Charles Peloquin, Michael Cohen-Wolkowiez, Daniel Gonzalez
Lambert-Eaton Myasthenia (LEM) is a rare autoimmune disorder associated with debilitating muscle weakness. There are limited treatment options and 3,4-diaminopyridine free base (3,4-DAP) is an investigational orphan drug used to treat LEM-related weakness. We performed a population PK/PD analysis using 3,4-DAP and metabolite concentrations collected from a phase 2 study in LEM patients. The Triple Timed Up & Go (3TUG) assessment, which measures lower extremity weakness, was the primary outcome measure. A total of 1270 PK samples (49 patients) and 1091 3TUG data points (32 randomized patients) were included in the PK/PD analysis...
June 17, 2017: CPT: Pharmacometrics & Systems Pharmacology
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#18
REVIEW
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune neuromuscular junction disorder that is related to the loss of functional P/Q-type voltage-gated calcium channels (VGCCs) on presynaptic nerve terminals. Up to 60% of cases occur as a paraneoplastic disorder (SCLC-LEMS), most commonly in association with small cell lung cancer. The remaining cases have an idiopathic non-tumor etiology but are associated with underlying autoimmune disease (NT-LEMS). Patients with LEMS invariably experience progressive proximal muscle weakness, often accompanied by general fatigue and autonomic symptoms...
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28605535/muscle-wasting-in-male-tnf-%C3%AE-blocker-na%C3%A3-ve-ankylosing-spondylitis-patients-a-comparison-of-gender-differences-in-body-composition
#19
Sebastián Ibáñez Vodnizza, Ingrid M Visman, Christiaan van Denderen, Willem F Lems, Francisca Jaime, Michael T Nurmohamed, Irene E van der Horst-Bruinsma
Objective.: To assess gender differences in body composition (BC) in a cohort of AS patients naïve to TNF-α blockers. Methods.: Patients included fulfilled the Modified New York criteria for AS. Demographic information and disease activity measures (ASDAS and BASDAI) were reported. BC was measured by whole body DXA. Body fat percentage (BF%), fat mass index (FMI), fat free mass index (FFMI) and android/gynoid fat ratio were reported and compared between men and women and with the reference population (percentiles)...
June 12, 2017: Rheumatology
https://www.readbyqxmd.com/read/28587141/lem-characterization-of-synthetic-jet-actuators-driven-by-piezoelectric-element-a-review
#20
Matteo Chiatto, Francesco Capuano, Gennaro Coppola, Luigi de Luca
In the last decades, Synthetic jet actuators have gained much interest among the flow control techniques due to their short response time, high jet velocity and absence of traditional piping, which matches the requirements of reduced size and low weight. A synthetic jet is generated by the diaphragm oscillation (generally driven by a piezoelectric element) in a relatively small cavity, producing periodic cavity pressure variations associated with cavity volume changes. The pressured air exhausts through an orifice, converting diaphragm electrodynamic energy into jet kinetic energy...
May 26, 2017: Sensors
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