Read by QxMD icon Read

Movement disorders & thyroid function

Assim A Alfadda, Hicham Benabdelkamel, Afshan Masood, Anwar A Jammah, Aishah A Ekhzaimy
Thyroid hormone is a potent stimulator of metabolism, playing a critical role in regulating energy expenditure and in key physiological mechanisms, such as growth and development. Although administration of thyroid hormone in the form of levo thyroxine (l-thyroxine) has been used to treat hypothyroidism for many years, the precise molecular basis of its physiological actions remains uncertain. Our objective was to define the changes in circulating protein levels that characterize alterations in thyroid hormone status...
January 1, 2018: International Journal of Molecular Sciences
Steven Hutchens, Chunyi Liu, Thomas Jursa, William Shawlot, Beth K Chaffee, Weiling Yin, Andrea C Gore, Michael Aschner, Donald R Smith, Somshuvra Mukhopadhyay
Manganese is an essential metal that becomes toxic at elevated levels. Loss-of-function mutations in SLC30A10, a cell-surface-localized manganese efflux transporter, cause a heritable manganese metabolism disorder resulting in elevated manganese levels and parkinsonian-like movement deficits. The underlying disease mechanisms are unclear; therefore, treatment is challenging. To understand the consequences of loss of SLC30A10 function at the organism level, we generated Slc30a10 knock-out mice. During early development, knock-outs were indistinguishable from controls...
June 9, 2017: Journal of Biological Chemistry
Hong Ji, Jiafu Yang, Huali Zhu, Wen Jiang, Fengyuan Sun
OBJECTIVE: To summarized the clinical features of thyroid associated ophthalmopathy patients with myasthenia gravis. METHODS: This is a retrospective case series study. The clinical data of 12 thyroid associated ophthalmopathy patients with myasthenia gravis were collected in the 416 Hospital of Nuclear Industry from Oct. 2012 to Feb. 2014. All patients had a detailed medical history including symptoms of onset, the best corrected visual acuity, anterior and posterior segment examination, the exophthalmos, eyelid position, eye movement, diplopia, strabismus, systemic symptoms, concurrent fatigue test, neostigmine test, thyroid function and orbital CT scan...
August 2015: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Kyle Arnoldi, James D Reynolds
PURPOSE: Thyroid eye disease (TED) frequently causes strabismus and diplopia. Though the condition involves multiple extraocular muscles in both eyes, the inferior rectus (IR) muscle is particularly susceptible. TED may be so asymmetric as to mask the involvement of the contralateral IR. The purpose of this study was to determine if the degree of preoperative cyclotropia measured with an objective test could be used to predict the extent of bilateral IR disease and assist in surgical planning...
2015: American Orthoptic Journal
Antje E Gohrbandt, Anna Aschoff, Bernhard Gohrbandt, Annemarie Keilmann, Hauke Lang, Thomas J Musholt
OBJECTIVE: Swallowing disorders are frequent complaints after thyroidectomy even in the absence of recurrent laryngeal nerve palsy. The aim of this study was to assess different symptoms in relation to laryngeal mobility following thyroidectomy. MATERIALS AND METHODS: 53 patients (mean age 52.4 ± 12.5 years; 36 female) with initially benign diagnosis and intact recurrent nerve functioning were prospectively evaluated. Laryngeal movement was analyzed by ultrasound preoperatively and 1, 3, and 6 months postoperatively...
March 2016: World Journal of Surgery
Lamis Yehia, Farshad Niazi, Ying Ni, Joanne Ngeow, Madhav Sankunny, Zhigang Liu, Wei Wei, Jessica L Mester, Ruth A Keri, Bin Zhang, Charis Eng
Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ∼50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c...
November 5, 2015: American Journal of Human Genetics
Matthias Zielonka, Nawal Makhseed, Nenad Blau, Markus Bettendorf, Georg Friedrich Hoffmann, Thomas Opladen
Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Here, we report a 7-year-old boy, who was referred for diagnostic evaluation of combined psychomotor retardation, spastic tetraplegia, extrapyramidal symptoms, and short stature...
2015: JIMD Reports
I Fish
The electroencephalogram represents an electrical summary of the organizational patterns and the total physical-chemical processes taking place in the brain at the time of the recording. Itis affected by (1) artifacts secondary to head movements, muscle potentials, and eye movements, (2) physiological factors, such as state of consciousness, hyperventilation, and maturity of the brain, (3) metabolic factors such as temperature, thyroid function, electrolyte changes, and numerous other metabolic factors, and (4) drugs...
February 1971: Pediatric Clinics of North America
Jin Zhu, Dong-Rong Yang, Yin Sun, Xiaofu Qiu, Hong-Chiang Chang, Gonghui Li, Yuxi Shan, Chawnshang Chang
The testicular nuclear receptor 4 (TR4) is a member of the nuclear receptor superfamily that mediates various biologic functions with key impacts on metabolic disorders and tumor progression. Here, we demonstrate that TR4 may play a positive role in prostate cancer CD133(+) stem/progenitor (S/P) cell invasion. Targeting TR4 with lentiviral silencing RNA significantly suppressed prostate cancer CD133(+) S/P cell invasion both in vitro and in vivo. Mechanism dissection found that TR4 transcriptionally regulates the oncogene EZH2 via binding to its 5' promoter region...
June 2015: Molecular Cancer Therapeutics
Manju A Kurian, Heinz Jungbluth
Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations...
July 2014: Developmental Medicine and Child Neurology
Kathryn J Peall, Daniel Lumsden, Rachel Kneen, Rajesh Madhu, Deirdre Peake, Frances Gibbon, Hilary Lewis, Tammy Hedderly, Esther Meyer, Stephanie A Robb, Bryan Lynch, Mary D King, Jean-Pierre Lin, Huw R Morris, Heinz Jungbluth, Manju A Kurian
AIM: Benign hereditary chorea is a dominantly inherited, childhood-onset hyperkinetic movement disorder characterized by non-progressive chorea and variable degrees of thyroid and respiratory involvement. Loss-of-function mutations in NKX2.1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified in a number of individuals. METHOD: Clinical data from individuals with benign hereditary chorea identified through paediatric neurology services were collected in a standardized format...
July 2014: Developmental Medicine and Child Neurology
Stacey L Clardy, Vanda A Lennon, Josep Dalmau, Sean J Pittock, H Royden Jones, Deborah L Renaud, Charles M Harper, Joseph Y Matsumoto, Andrew McKeon
IMPORTANCE: Reports of pediatric-onset stiff-man syndrome (SMS) are rare. This may be an underrecognized disorder in child neurology practice. OBJECTIVE: To describe patients with disorders in the SMS spectrum beginning in childhood. DESIGN, SETTING, AND PARTICIPANTS: This study was a medical record review and serological evaluation conducted at child and adult neurology clinics at the Mayo Clinic, Rochester, Minnesota. Systematic review of the literature was conducted of patients who presented from 1984-2012 with onset of symptomatic SMS occurring at age 18 years or younger...
December 2013: JAMA Neurology
Léa Maria Zanini Maciel, Edna Teruko Kimura, Célia Regina Nogueira, Glaucia M F S Mazeto, Patrícia Künzle Ribeiro Magalhães, Marilza Leal Nascimento, Suzana Nesi-França, Sandra E Vieira
Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis...
April 2013: Arquivos Brasileiros de Endocrinologia e Metabologia
Ljiljana Todorović Dilas, Ivana Bajkin, Tijana Icin, Jovanka Novaković Paro, Branka Kovacev Zavisić
Iodine, as a trace element, is a necessary and limiting substrate for thyroid gland hormone synthesis. It is an essential element that enables the thyroid gland to produce thyroid hormones thyroxine (T4) and triiodothyronine (T3). Synthesis of Thyroid Hormones and Iodine Metabolism. Three iodine molecules are added to make triiodothyronine, and four for thyroxine - the two key hormones produced by the thyroid gland. Iodine deficiency The proper daily amount of iodine is required for optimal thyroid function...
November 2012: Medicinski Pregled
Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L Schmidt, Christin D Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice E Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi
Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked disorder resulting from an impairment of the transcellular transportation of thyroid hormones. Within the central nervous system thyroid hormone transport is normally mediated by MCT8. Patients are described as affected by a static or slowly progressive clinical picture which consists of variable degrees of mental retardation, hypotonia, spasticity, ataxia and involuntary movements, occasionally paroxysmal. The authors describe the clinical and neuroradiological picture of 3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxysmal extrapyramidal symptoms...
June 2013: Journal of Child Neurology
Takako Takeuchi, Hotaka Kamasaki, Yuko Yoto, Takashi Honjo, Satoshi Tsugawa, Tomoyuki Hotsubo, Hiroyuki Tsutsumi
Iodine concentrations of enteral nutrition (EN) formulae available in Japan are very low and long-term total EN (TEN) might result in hypothyroidism due to iodine deficiency (HID). Our aim of this study was to determine the degree of iodine deficiency (ID) and need for iodine supplementation (IS) in patients with severe motor and intellectual disabilities (SMID) on long-term TEN. Thyroid function including urinary iodine concentration (UIC) was monitored, and powdered kelp was provided as a source of iodine supplement...
2012: Endocrine Journal
Erin E Devine, Erin E Bulleit, Matthew R Hoffman, Timothy M McCulloch, Jack J Jiang
PURPOSE: To model tension asymmetry caused by superior laryngeal nerve paralysis (SLNP) in excised larynges and apply perturbation, nonlinear dynamic, and aerodynamic analyses. METHOD: SLNP was modeled in 8 excised larynges using sutures and weights to mimic cricothyroid (CT) muscle function. Weights were removed from one side to create tension asymmetry, mimicking unilateral SLNP. Two sets of weights were used, 1 light and 1 heavy. Five conditions were evaluated: (a) no tension, (b) symmetrical light tension, (c) asymmetrical light tension, (d) symmetrical heavy tension, and (e) asymmetrical heavy tension...
December 2012: Journal of Speech, Language, and Hearing Research: JSLHR
Catherine H Y Yu, Rebecca Stovel, Susan Fox
OBJECTIVE: To report a case of reversible chorea in a woman with myxedema coma. METHODS: We describe the clinical course, imaging findings, and laboratory test results of a patient who initially presented with myxedema coma and then developed reversible chorea upon treatment. RESULTS: A 33-year-old woman with a known history of primary hypothyroidism presented with a 3-week history of lethargy, progressing to a precipitous decline in consciousness that required intubation...
May 2012: Endocrine Practice
Simona Rodighiero, Guido Bottà, Claudia Bazzini, Giuliano Meyer
The pendrin (SLC26A4 or PDS) gene is responsible, when mutated, for the Pendred syndrome, a recessive disorder characterized by sensorineural hearing loss often accompanied by thyroid dysfunctions. Pendrin protein is an anion exchanger and we focused on a still unexplored function that it might play in view of its importance in the inner ear: Cl(-) fluxes regulation during cellular volume control. We challenged HEK-293 Phoenix cells over-expressing wild type pendrin (PDS HEK cells) together with the EYFP (Enhanced Yellow Fluorescent Protein) or over-expressing the EYFP alone (control HEK cells) with hypo-osmolar solutions...
2011: Cellular Physiology and Biochemistry
Katsuya Nakamura, Yoshiki Sekijima, Kiyoshiro Nagamatsu, Kunihiro Yoshida, Shu-ichi Ikeda
A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function...
February 15, 2012: Journal of the Neurological Sciences
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"