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https://www.readbyqxmd.com/read/28528492/sagittal-plane-kinematics-of-the-jaw-and-hyolingual-apparatus-during-swallowing-in-macaca-mulatta
#1
Yuki Nakamura, Jose Iriarte-Diaz, Fritzie Arce-McShane, Courtney P Orsbon, Kevin A Brown, McKenna Eastment, Limor Avivi-Arber, Barry J Sessle, Makoto Inoue, Nicholas G Hatsopoulos, Callum F Ross, Kazutaka Takahashi
Studies of mechanisms of feeding behavior are important in a society where aging- and disease-related feeding disorders are increasingly prevalent. It is important to evaluate the clinical relevance of animal models of the disease and the control. Our present study quantifies macaque hyolingual and jaw kinematics around swallowing cycles to determine the extent to which macaque swallowing resembles that of humans. One female and one male adult Macaca mulatta were trained to feed in a primate chair. Videofluoroscopy was used to record kinematics in a sagittal view during natural feeding on solid food, and the kinematics of the hyoid bone, thyroid cartilage, mandibular jaw, and anterior-, middle-, and posterior-tongue...
May 20, 2017: Dysphagia
https://www.readbyqxmd.com/read/28528469/multiple-sclerosis-treatment-with-fingolimod-profile-of-non-cardiologic-adverse-events
#2
REVIEW
Yara Dadalti Fragoso
Fingolimod was the first oral medication approved for management of multiple sclerosis and is currently used by tens of thousands patients worldwide. Fingolimod acts via the sphingosine 1-phosphate (S1P) receptor, maintaining peripheral lymphocytes entrapped in the lymph nodes. In consequence, there is a reduction in the infiltration of aggressive lymphocytes into the central nervous system. The drug is safe and effective, and its first hours of use are associated with related to S1P receptors in the heart...
May 20, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28527577/resistance-to-thyroid-hormone-due-to-heterozygous-mutations-in-thyroid-hormone-receptor-alpha
#3
Anja L M van Gucht, Carla Moran, Marcel E Meima, W Edward Visser, Krishna Chatterjee, Theo J Visser, Robin P Peeters
BACKGROUND: Thyroid hormone (TH) acts via nuclear thyroid hormone receptors (TRs). TR isoforms (TRα1, TRα2, TRβ1, TRβ2) are encoded by distinct genes (THRA and THRB) and show differing tissue distributions. Patients with mutations in THRB, exhibiting resistance within the hypothalamic-pituitary-thyroid axis with elevated TH and nonsuppressed thyroid-stimulating hormone (TSH) levels, were first described decades ago. In 2012, the first patients with mutations in THRA were identified...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#4
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#5
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28526555/modeling-psychomotor-retardation-using-ipscs-from-mct8-deficient-patients-indicates-a-prominent-role-for-the-blood-brain-barrier
#6
Gad D Vatine, Abraham Al-Ahmad, Bianca K Barriga, Soshana Svendsen, Ariel Salim, Leslie Garcia, Veronica J Garcia, Ritchie Ho, Nur Yucer, Tongcheng Qian, Ryan G Lim, Jie Wu, Leslie M Thompson, Weston R Spivia, Zhaohui Chen, Jennifer Van Eyk, Sean P Palecek, Samuel Refetoff, Eric V Shusta, Clive N Svendsen
Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. Animal models do not reflect the biology of the human disease. Using patient-specific induced pluripotent stem cells (iPSCs), we generated MCT8-deficient neural cells that showed normal TH-dependent neuronal properties and maturation. However, the blood-brain barrier (BBB) controls TH entry into the brain, and reduced TH availability to neural cells could instead underlie the diseased phenotype...
May 8, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#7
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28522989/postpartum-mood-disorders-and-thyroid-autoimmunity
#8
Maria Le Donne, Carmela Mento, Salvatore Settineri, Alessandro Antonelli, Salvatore Benvenga
No abstract text is available yet for this article.
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28515556/subacute-noninfective-inflammatory-encephalopathy-our-experience-and-diagnostic-problems
#9
Sadanandavalli Retnaswami Chandra, Lakshminarayanapuram Gopal Viswanathan, Dodmalur Malikarjuna Sindhu, Anupama Ramakanth Pai
INTRODUCTION: Immune dysregulation associated encephalopathies present with significant psychiatric manifestations and only a few soft neurological and general systemic features. They are generally resistant to treatment with psychiatric medications. Generalized orthostatic myoclonus and faciobrachial dystonic seizures are mistaken as Creutzfeldt-Jakob disease and subacute sclerosing panencephalitis. PATIENTS AND METHODS: Forty-two patients seen during 2010-2015 and diagnosed as noninfective encephalopathy were analyzed...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28511899/signaling-pathways-to-and-from-the-hypophysial-pars-tuberalis-an-important-center-for-the-control-of-seasonal-rhythms
#10
REVIEW
Horst-Werner Korf
Seasonal (circannual) rhythms play an important role for the control of body functions (reproduction, metabolism, immune responses) in nearly all living organisms. Also humans are affected by the seasons with regard to immune responses and mental functions, the seasonal affective disorder being one of the most prominent examples. The hypophysial pars tuberalis (PT), an important interface between the hypophysial pars distalis and neuroendocrine centers in the brain, plays an essential role in the regulation of seasonal functions and may even be the seat of the circannual clock...
May 13, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28511377/an-analysis-of-dynamic-pulmonary-functions-of-hypothyroid-patients
#11
Seethalakshmi Krishna Iyer, Sunil K Menon, Biju Bahuleyan
INTRODUCTION: Hypothyroidism is a silent epidemic of our times. In India, the prevalence of hypothyroidism is 11%. The effect of hypothyroidism on respiratory system is debatable with studies suggesting both obstructive and restrictive disease patterns. The symptoms range from mild dyspnoea to life-threatening respiratory failure. This study emphasizes the effect of hypothyroidism on dynamic respiratory functions. AIM: To find out the changes in dynamic respiratory functions (FVC, FEV1, FEV1% and PEFR) in both male and female hypothyroid patients within age group of 18-45 years...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28511371/study-of-serum-total-psa-and-free-psa-as-an-oncological-marker-in-breast-tumour
#12
Elteza Tahjiba Jahir, Runi Devi, Bibhuti Bhushan Borthakur
INTRODUCTION: Breast Cancer (BC) cases are rising alarmingly all over the world and India is not an exception. This rising trend is due to an increased age at first child birth, decreased breast feeding, and the changing lifestyle mostly in urban India. With the advent of more sensitive methodologies and research works in this field, it has been suggested that Prostate Specific Antigen (PSA) plays an important role in the pathogenesis of breast cancer besides other established tumour markers...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28508616/ultrasound-elastography-in-pediatric-congenital-hypothyroid-patients
#13
Mehmet Akif Sarıca, Tahir Dalkıran, Mehmet Sait Menzilcioğlu, Mahmut Duymuş, Nursel Yurttutan
OBJECTIVES: Congenital hypothyroidism (CH) is most frequently encountered in newborns as an endocrine disorder characterized by thyroid hormone deficiency, and is one of the most common reasons for preventable mental retardation. This prospective study was designed to detect the pediatric occurrences of CH followed as euthyroid, with no anomalies detected via US on the gray scale, in comparison with a pediatric group with normal levels. METHODS: A total of 42 apparently healthy children with no thyroid disorder (Group 1) and 54 euthyroid CH (Group 2) using thyroid hormone were included in this study...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28504502/-transient-congenital-hypothyroidism-due-to-biallelic-defects-of-duox2-gene-two-clinical-cases
#14
Rosa E Enacán, María E Masnata, Fiorella Belforte, Patricia Papendieck, María C Olcese, Sofía Siffo, Laura Gruñeiro-Papendieck, Héctor Targovnik, Carina M Rivolta, Ana E Chiesa
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28503341/peripheral-and-central-nervous-system-involvement-in-recently-diagnosed-cases-of-hypothyroidism-an-electrophysiological-study
#15
N Gupta, M Arora, R Sharma, K S Arora
BACKGROUND: Hypothyroidism, one of the most common endocrine disorders, may induce neurological abnormalities at an early stage of the disease. AIM: The study was designed to assess the electrophysiological alterations of some selected variables of nerve conduction, brainstem auditory evoked potentials (BAEPs), and visual evoked potentials (VEPs) in hypothyroid patients. SUBJECTS AND METHODS: Sixty patients of newly diagnosed hypothyroidism and an equal number of age-matched controls were selected for the study...
September 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28500433/the-effect-of-orbital-radiation-therapy-on-thyroid-associated-orbitopathy-complicated-with-dysthyroid-optic-neuropathy
#16
REVIEW
Yang Wang, Huifang Zhou, Xianqun Fan
Thyroid-associated orbitopathy (TAO) is an inflammatory autoimmune disorder. The most serious complication of TAO is dysthyroid optic neuropathy (DON), which can lead to permanent vision loss because of volume expansion in the orbital apex. Orbital radiation therapy (ORT) is an anti-inflammatory treatment used in the treatment of active TAO. Clinical studies support radiotherapy as having a modest effect on DON, and early radiotherapy may protect against disease progression to DON. Current studies suggest that radiotherapy is generally safe...
May 13, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28494269/medical-conditions-associated-with-recurrent-miscarriage-is-bmi-the-tip-of-the-iceberg
#17
Mushi J Matjila, Anne Hoffman, Zephne M van der Spuy
BACKGROUND: In contrast to sporadic miscarriage, recurrent miscarriage (RM) is a rare entity which affects 1% of couples attempting conception. It is distressing for couples and healthcare professionals as the aetiology is unclear with limited treatment options. Apart from anti-phospholipid syndrome (APS), the strength of associations between RM and commonly investigated endocrine, autoimmune, thrombophilic and uterine structural abnormalities remains uncertain and variable. OBJECTIVES: To assess the prevalence of commonly investigated medical conditions associated with RM...
May 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#18
Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28493290/circulating-thyroid-cancer-biomarkers-current-limitations-and-future-prospects
#19
Alexander M Nixon, Xeni Provatopoulou, Eleni Kalogera, George N Zografos, Antonia Gounaris
Differentiated thyroid cancer (DTC) is the most common malignancy of the endocrine system. There has been a significant increase in its incidence over the past two decades attributable mainly to the use of more sensitive diagnostic modalities. Ultrasound-guided fine needle aspiration cytology is the mainstay of diagnosis of benign disorders and malignancy. However, approximately 20% of lesions cannot be adequately categorized as benign or malignant. In the post-operative setting, monitoring of thyroglobulin (Tg) levels has been employed for the detection of disease recurrence...
May 10, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28491051/hashimoto-s-thyroiditis-and-autoimmune-gastritis
#20
REVIEW
Miriam Cellini, Maria Giulia Santaguida, Camilla Virili, Silvia Capriello, Nunzia Brusca, Lucilla Gargano, Marco Centanni
The term "thyrogastric syndrome" defines the association between autoimmune thyroid disease and chronic autoimmune gastritis (CAG), and it was first described in the early 1960s. More recently, this association has been included in polyglandular autoimmune syndrome type IIIb, in which autoimmune thyroiditis represents the pivotal disorder. Hashimoto's thyroiditis (HT) is the most frequent autoimmune disease, and it has been reported to be associated with gastric disorders in 10-40% of patients while about 40% of patients with autoimmune gastritis also present HT...
2017: Frontiers in Endocrinology
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