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https://www.readbyqxmd.com/read/30086211/a-novel-igsf1-mutation-in-a-large-irish-kindred-highlights-the-need-for-familial-screening-in-the-igsf1-deficiency-syndrome
#1
Edna F Roche, Anne McGowan, Olympia Koulouri, Marc-Olivier Turgeon, Adeline K Nicholas, Emmeline Heffernan, Ranna El-Khairi, Noina Abid, Greta Lyons, David Halsall, Marco Bonomi, Luca Persani, Mehul T Dattani, Mark Gurnell, Daniel J Bernard, Nadia Schoenmakers
OBJECTIVE: Loss-of-function mutations in IGSF1 result in X-linked central congenital hypothyroidism (CeCH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred. DESIGN, PATIENTS & MEASUREMENTS: A novel hemizygous IGSF1 mutation was identified by direct sequencing in two brothers with CeCH and its functional consequences were characterized in vitro...
August 7, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/30074252/development-of-a-method-for-the-determination-of-hydromorphone-in-plasma-by-lc-ms
#2
Sherry Cox, Joan Bergman, Shawna Hawkins, Kurt Sladky
A simple high-performance liquid chromatography method for the determination of hydromorphone in small volume plasma has been developed. Following solid phase extraction using Oasis HLB cartridges, samples were separated by reverse-phase high performance liquid chromatography on an Atlantis T3 4.6 x 150 mm column (3.0 μm) and quantified using mass spectrometry. The mobile phase was a mixture of water with 0.1% formic acid and acetonitrile with 0.1% formic acid (91:9). The standard curve ranged from 1 - 500 ng/mL...
August 3, 2018: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/30071781/enamel-resistance-to-demineralisation-around-orthodontic-brackets-after-co-2-laser-irradiation-a-randomised-clinical-trial
#3
Tuqa Raghis, Ghiath Mahmoud, Ahmed Abdullah, Omar Hamadah
OBJECTIVE: To evaluate the clinical effect of 10.6 µm CO2 laser irradiation on the formation of demineralised lesions (DLs) around orthodontic brackets. DESIGN: A two-arm, split-mouth, randomised clinical trial (RCT). SETTING: The Orthodontic Department, Faculty of Dentistry, Damascus University, Syria. PARTICIPANTS: Twenty-six patients with a total of 520 teeth were recruited into the trial. METHOD: Two reversed quadrants of the dental arches in each patient were randomly allocated to CO2 laser application around the orthodontic brackets...
August 2, 2018: Journal of Orthodontics
https://www.readbyqxmd.com/read/30007154/transcriptomics-investigation-of-thyroid-hormone-disruption-in-the-olfactory-system-of-the-rana-lithobates-catesbeiana-tadpole
#4
Kevin W Jackman, Nik Veldhoen, Rachel C Miliano, Bonnie J Robert, Linda Li, Azadeh Khojasteh, Xiaoyu Zheng, Tristan S M Zaborniak, Graham van Aggelen, Mary Lesperance, Wayne J Parker, Eric R Hall, Gregory G Pyle, Caren C Helbing
Thyroid hormones (THs) regulate vertebrate growth, development, and metabolism. Despite their importance, there is a need for effective detection of TH-disruption by endocrine disrupting chemicals (EDCs). The frog olfactory system substantially remodels during TH-dependent metamorphosis and the objective of the present study is to examine olfactory system gene expression for TH biomarkers that can evaluate the biological effects of complex mixtures such as municipal wastewater. We first examine classic TH-response gene transcripts using reverse transcription-quantitative real-time polymerase chain reaction (RT-qPCR) in the olfactory epithelium (OE) and olfactory bulb (OB) of premetamorphic Rana (Lithobates) catesbeiana tadpoles after 48 h exposure to biologically-relevant concentrations of the THs, 3,5,3'-triiodothyronine (T3 ) and L-thyroxine (T4 ), or 17-beta estradiol (E2 ); a hormone that can crosstalk with THs...
September 2018: Aquatic Toxicology
https://www.readbyqxmd.com/read/29953409/severe-consumptive-hypothyroidism-caused-by-multiple-infantile-hepatic-haemangiomas
#5
Enver Simsek, Meliha Demiral, Elif Gundoğdu
Background Infantile hepatic haemangiomas (IHHs) produce an excess of the thyroid hormone inactivating enzyme type-3 iodothyronine deiodinase (D3), leading to rapid degradation of thyroid hormones and consumptive hypothyroidism. The L-thyroxine replacement dose in patients with consumptive hypothyroidism is inappropriately higher than that in congenital hypothyroidism. Case presentation A 4-month-old boy presented with abdominal distention. Thyroid function tests (TFTs) revealed an elevated thyroid-stimulating hormone (TSH) level of 177 mU/L, normal free thyroxine (fT4) of 1...
July 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29920214/triiodothyronine-and-leptin-repletion-in-humans-similarly-reverse-weight-loss-induced-changes-in-skeletal-muscle
#6
Michael Rosenbaum, Rochelle L Goldsmith, Fadia Haddad, Kenneth M Baldwin, Richard Smiley, Dympna Gallagher, Rudolph L Leibel
Subjects maintaining a 10% or greater dietary weight loss exhibit decreased circulating concentrations of bioactive thyroid hormones and increased skeletal muscle work efficiency largely due to increased expression of more efficient myosin heavy chain isoforms (MHCI) and significantly mediated by the adipocyte-derived hormone leptin. The primary purpose of this study was to examine the effects of triiodothyronine (T3) repletion on energy homeostasis and skeletal muscle physiology in weight-reduced subjects and to compare these results with the effects of leptin repletion...
June 19, 2018: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29895574/primary-t-cells-from-cutaneous-t-cell-lymphoma-skin-explants-display-an-exhausted-immune-checkpoint-profile
#7
Christiane Querfeld, Samantha Leung, Patricia L Myskowski, Shane A Curran, Debra A Goldman, Glenn Heller, Xiwei Wu, Sung Hee Kil, Sneh Sharma, Kathleen J Finn, Steven Horwitz, Alison Moskowitz, Babak Mehrara, Steven T Rosen, Allan C Halpern, James W Young
Cutaneous T-cell lymphoma (CTCL) develops from clonally expanded CD4+ T cells in a background of chronic inflammation. Although dendritic cells (DCs) stimulate T cells and are present in skin, cutaneous T cells in CTCL do not respond with effective antitumor immunity. We evaluated primary T-cell and DC émigrés from epidermal and dermal explant cultures of skin biopsies from CTCL patients ( n = 37) and healthy donors ( n = 5). Compared with healthy skin, CD4+ CTCL populations contained more T cells expressing PD-1, CTLA-4, and LAG-3...
August 2018: Cancer Immunology Research
https://www.readbyqxmd.com/read/29892819/thyroid-hormones-and-derivatives-endogenous-thyroid-hormones-and-their-targets
#8
Josef Köhrle
More than a century after the discovery of L-Thyroxine, the main thyroid hormone secreted solely by the thyroid gland, several metabolites of this iodinated, tyrosine-derived ancestral hormone have been identified. These are utilized as hormones during development, differentiation, metamorphosis, and regulation of most biochemical reactions in vertebrates and their precursor species. Among those metabolites are the thyromimetically active 3,3',5-Triiodo-L-thyronine (T3) and 3,5-Diiodo-L-thronine, reverse-T3 (3,3',5'-Triiodo-L-thyronine) with still unclear function, the recently re-discovered thyronamines (e...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29890234/principles-and-practice-of-hdr-penile-brachytherapy-planning-and-delivery-techniques
#9
Shireen Parsai, Sheen Cherian, Ryan K Berglund, Byron Lee, Matthew Kolar, Nancy Nagle-Hernan, Allan Wilkinson, Jay Ciezki
OBJECTIVES: To allow for organ preservation, high dose rate brachytherapy may be used in the treatment of localized penile cancer. Penile cancer is a rare malignancy, accounting for less than one percent of cancers in men in the United States. The standard treatment for localized disease is partial amputation of the penis. However, patients with T1b or T2 disease, less than 4 cm in maximum dimension and confined to the glans penis may be treated with brachytherapy as an organ-sparing approach...
June 8, 2018: Practical Radiation Oncology
https://www.readbyqxmd.com/read/29874126/deficiency-of-type-2-iodothyronine-deiodinase-reduces-necroptosis-activity-and-oxidative-stress-responses-in-retinas-of-leber-congenital-amaurosis-model-mice
#10
Fan Yang, Hongwei Ma, Michael R Butler, Xi-Qin Ding
Thyroid hormone (TH) signaling has been shown to regulate cone photoreceptor viability. Suppression of TH signaling with antithyroid drug treatment or by targeting iodothyronine deiodinases and TH receptors preserves cones in mouse models of retinal degeneration, including the Leber congenital amaurosis Rpe65-deficient mice. This work investigates the cellular mechanisms underlying how suppressing TH signaling preserves cones in Rpe65-deficient mice, using mice deficient in type 2 iodothyronine deiodinase (Dio2), the enzyme that converts the prohormone thyroxine to the active hormone triiodothyronine (T3)...
June 6, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29846992/baseline-adverse-electrical-remodeling-and-the-risk-for-ventricular-arrhythmia-in-cardiac-resynchronization-therapy-recipients-madit-crt
#11
Yitschak Biton, Chee Yuan Ng, Xiaojuan Xia, Jayson R Baman, Jean-Philippe Couderc, Arthur J Moss, Valentina Kutyifa, Scott McNitt, Bronislava Polonsky, Wojciech Zareba
INTRODUCTION: Adverse electrical remodeling (AER), represented here as the sum absolute QRST integral (SAI QRST), has previously been shown to be directly associated with the risk for ventricular arrhythmia (VA). Cardiac resynchronization therapy (CRT) is known to reduce the risk for VA through various mechanisms, including reverse remodeling, and we aimed to evaluate the association between baseline AER and the risk for VA in CRT recipients. METHODS AND RESULTS: The study population comprised 961 CRT-D implanted patients from the MADIT CRT study...
July 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29846461/hemodynamic-evaluation-of-elderly-patients-during-laparoscopic-cholecystectomy
#12
Luiz Paulo Jacomelli Ramos, Rodrigo Barcellos Araújo, Maria DO Carmo Valente Castro, Maria Roberta Meneguetti Seravalli Ramos, José Antonio Cunha-E-Silva, Antonio Carlos Iglesias
OBJECTIVE: to demonstrate hemodynamic changes during laparoscopic cholecystectomy in elderly patients with trans-esophageal echocardiography. METHODS: we studied 31 elderly patients (aged 60 years or older), ASA I or II, who underwent elective laparoscopic cholecystectomy under general, standardized anesthesia, with cardiovascular parameters measured using transesophageal echocardiography at three different times: before the pneumoperitoneum (T1), after CO2 insufflation (T2) and at deflation (T3)...
2018: Revista do Colégio Brasileiro de Cirurgiões
https://www.readbyqxmd.com/read/29796989/thyroid-hormone-supplementation-restores-spatial-memory-hippocampal-markers-of-neuroinflammation-plasticity-related-signaling-molecules-and-%C3%AE-amyloid-peptide-load-in-hypothyroid-rats
#13
Amina Chaalal, Roseline Poirier, David Blum, Serge Laroche, Valérie Enderlin
Hypothyroidism is a condition that becomes more prevalent with age. Patients with untreated hypothyroidism have consistently reported symptoms of severe cognitive impairments. In patients suffering hypothyroidism, thyroid hormone supplementation offers the prospect to alleviate the cognitive consequences of hypothyroidism; however, the therapeutic value of TH supplementation remains at present uncertain and the link between cellular modifications associated with hypothyroidism and neurodegeneration remains to be elucidated...
May 23, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29768657/simultaneous-quantification-of-fentanyl-sufentanil-cefazolin-doxapram-and-keto-doxapram-in-plasma-using-liquid-chromatography-tandem-mass-spectrometry
#14
Robert B Flint, Soma Bahmany, Bart C H van der Nagel, Birgit C P Koch
A simple and specific UPLC-MS/MS method was developed and validated for simultaneous quantification of fentanyl, sufentanil, cefazolin, doxapram and its active metabolite keto-doxapram. The internal standard was fentanyl-d5 for all analytes. Chromatographic separation was achieved with a reversed-phase Acquity UPLC HSS T3 column with a run-time of only 5.0 min per injected sample. Gradient elution was performed with a mobile phase consisting of ammonium acetate or formic acid in Milli-Q ultrapure water or in methanol with a total flow rate of 0...
May 16, 2018: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/29751674/comparative-analysis-of-zearalenone-effects-on-thyroid-receptor-alpha-tr%C3%AE-and-beta-tr%C3%AE-expression-in-rat-primary-cerebellar-cell-cultures
#15
David Sandor Kiss, Eniko Ioja, Istvan Toth, Zoltan Barany, Gergely Jocsak, Tibor Bartha, Tamas L Horvath, Attila Zsarnovszky
Thyroid receptors play an important role in postnatal brain development. Zearalenone (ZEN), a major mycotoxin of Fusarium fungi, is well known to cause serious health problems in animals and humans through various mechanisms, including the physiological pathways of thyroid hormone (TH). In the present study, we aimed to investigate the expression of thyroid receptors α (TRα) and β (TRβ) in primary cerebellar neurons in the presence or absence of glia and following ZEN treatment, using quantitative reverse transcription-polymerase chain reaction (qRT-PCR) and Western blot...
May 11, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29712745/impact-of-intensive-versus-standard-blood-pressure-management-by-tertiles-of-blood-pressure-in-sprint-systolic-blood-pressure-intervention-trial
#16
Brian P Shapiro, Walter T Ambrosius, Joseph L Blackshear, William C Cushman, Paul K Whelton, Suzanne Oparil, Srinivasan Beddhu, Jamie P Dwyer, Lisa H Gren, William J Kostis, Michael Lioudis, Roberto Pisoni, Clive Rosendorff, William E Haley
Intensive systolic blood pressure (SBP) control improved outcomes in SPRINT (Systolic Blood Pressure Intervention Trial). Our objective was to expand on reported findings by analysis of baseline characteristics, primary outcomes, adverse events, follow-up blood pressure, and medication use differences by baseline SBP (tertile 1 [T1], <132; tertile 2 [T2], 132-145; and tertile 3 [T3], >145 mm Hg). Participants with higher baseline SBP tertile were more often women and older, had higher cardiovascular risk, and lower utilization of antihypertensive medications, statins, and aspirin...
June 2018: Hypertension
https://www.readbyqxmd.com/read/29658834/alterations-in-thyroid-hormone-levels-following-growth-hormone-replacement-exert-complex-biological-effects
#17
Nigel Glynn, Helena Kenny, Tarik Salim, David J Halsall, Diarmuid Smith, Tommy Kyaw Tun, John H McDermott, William Tormey, Christopher J Thompson, Brendan McAdam, Donal O' Gorman, Amar Agha
OBJECTIVE: Alterations in the thyroid axis are frequently observed following growth hormone (GH) replacement, but uncertainty exists regarding their clinical significance. We aimed to compare fluctuations in circulating thyroid hormone levels, induced by GH, to changes in sensitive biological markers of thyroid hormone action. METHODS: This was a prospective observational clinical study. Twenty hypopituitary men were studied before and after GH replacement. Serum thyroid-stimulating hormone (TSH), thyroid hormones, and insulin-like growth factor 1 were measured...
April 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29626267/different-ventilation-techniques-and-hemodynamic-optimization-to-maintain-regional-cerebral-oxygen-saturation-rsco-2-during-laparoscopic-bariatric-surgery-a-prospective-randomized-interventional-study
#18
Osama M Asaad
PURPOSE: The purpose of this study was to assess the changes in regional cerebral oxygen saturation (rScO2 ) in response to different ventilation strategies: inspired oxygen concentration (FiO2 ), end-tidal carbon dioxide (EtCO2 ), and positive end expiratory pressure (PEEP) in addition to optimizing mean arterial pressure (MAP) in obese patients subjected to laparoscopic bariatric surgery in the reverse trendelenburg position. METHODS: 50 obese patients were randomly assigned into one of two groups...
June 2018: Journal of Anesthesia
https://www.readbyqxmd.com/read/29615976/higher-prevalence-of-low-t3-syndrome-in-patients-with-chronic-fatigue-syndrome-a-case-control-study
#19
Begoña Ruiz-Núñez, Rabab Tarasse, Emar F Vogelaar, D A Janneke Dijck-Brouwer, Frits A J Muskiet
Chronic fatigue syndrome (CFS) is a heterogeneous disease with unknown cause(s). CFS symptoms resemble a hypothyroid state, possibly secondary to chronic (low-grade) (metabolic) inflammation. We studied 98 CFS patients (21-69 years, 21 males) and 99 age- and sex-matched controls (19-65 years, 23 males). We measured parameters of thyroid function, (metabolic) inflammation, gut wall integrity and nutrients influencing thyroid function and/or inflammation. Most remarkably, CFS patients exhibited similar thyrotropin, but lower free triiodothyronine (FT3) (difference of medians 0...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29594250/anti-pd-l1-durvalumab-combined-with-cetuximab-and-radiotherapy-in-locally-advanced-squamous-cell-carcinoma-of-the-head-and-neck-a-phase-i-ii-study-ducro
#20
Pierluigi Bonomo, Isacco Desideri, Mauro Loi, Monica Mangoni, Mariangela Sottili, Livia Marrazzo, Cinzia Talamonti, Daniela Greto, Stefania Pallotta, Lorenzo Livi
Introduction and background: Head and neck squamous cell carcinoma (HNSCC) has been increasingly recognized as an immune suppressive malignancy. The efficacy of immune checkpoint inhibitors (ICI's) in the context of recurrent/metastatic (R/M) setting anticipates the possible integration of immunotherapy into the therapeutic armamentarium of locally advanced disease. Durvalumab (DUR) is a humanized monoclonal IgG1, anti-PD-L1 antibody with promising data in R/M HNSCC. The aim of our study is to test the antitumor activity of a combined regimen incorporating an immune checkpoint inhibitor into a conventional bio-radiation strategy for the cure of unfavorable locally advanced HNSCC...
February 2018: Clinical and translational radiation oncology
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