A5008676975- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- interferon and immune responses
- Thyroid Cancer Diagnosis and Treatment
- Erythrocyte Function and Pathophysiology
- Ion channel regulation and function
- Animal Virus Infections Studies
- Neuroblastoma Research and Treatments
- Vitamin K Research Studies
- Hearing, Cochlea, Tinnitus, Genetics
- SARS-CoV-2 and COVID-19 Research
- Cancer Diagnosis and Treatment
- Adrenal and Paraganglionic Tumors
- Cytokine Signaling Pathways and Interactions
- S100 Proteins and Annexins
- Congenital heart defects research
- Selenium in Biological Systems
- Vitamin D Research Studies
- Ophthalmology and Eye Disorders
- Medical Imaging and Pathology Studies
- PI3K/AKT/mTOR signaling in cancer
- Cardiac Arrhythmias and Treatments
- Fungal Infections and Studies
- Appendicitis Diagnosis and Management
- Neuroscience of respiration and sleep
University of Chicago
2016-2024
King Chulalongkorn Memorial Hospital
2015-2024
Thai Red Cross Society
2018-2024
Chulalongkorn University
2015-2024
Thammasat University Hospital
2007-2009
Defects in genes mediating thyroid hormone biosynthesis result dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations SLC26A7 6 unrelated families with goitrous CH and show that also occurs Slc26a7-null mice. In both species, the gene is expressed predominantly gland, loss of function associated impaired availability iodine for synthesis, partially corrected mice by supplementation. a member same transporter family as SLC26A4 (pendrin), an anion...
Fetuses exposed to the high thyroid hormone (TH) levels of mothers with resistance beta (RTH-β), due mutations in THRB gene, have low birth weight and suppressed TSH. Determine if such exposure TH embryonic life has a long-term effect into adulthood. Observations humans parallel design on animals obtain preliminary information regarding mechanism. University research centers. Humans mice no RTH-β during intrauterine from who were euthyroid RTH-β. Controls same genotype but born fathers...
This study was designed to evaluate the effect of selenium supplementation in inactive moderate-severe Graves' orbitopathy (GO) patients.
Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused mutations in genes encoding the receptor PAX8, it has been linked locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of RTSH phenotype, exome analysis identified five rare DUOX2 gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, p.SF965-6SfsX29) found pathogenic. This form dyshormonogenesis masquerades both...
A patient is reported with resistance to thyroid hormone beta caused by a novel THRB gene mutation and coexisting pituitary microadenoma. 41-year-old Thai woman presented elevated serum levels non-suppressed thyrotropin (TSH). Magnetic resonance imaging showed 4 mm × 2 adenoma. Five of her relatives had similar tests abnormalities, but sister Graves' disease. Thyroperoxidase thyroglobulin antibodies were positive in all affected family members, except for the proband's 4.5-year-old niece....
Assay interference could be the cause of abnormal thyroid function tests. Early recognition prevents inappropriate patient management. The objective this report is to present a case with discordant tests in different assay platforms due autoantibodies.We her family, laboratory data and methods that investigate immunoassay interference.A 21-year-old woman autoimmune disease was treated for hypothyroidism levothyroxine noted have elevated total free thyroxine, triiodothyronine but normal...
Several human monoclonal antibodies directed against immune checkpoints, including T lymphocyte antigen 4 and programmed cell death protein 1, have been implemented for cancer treatment in order to promote effector response tumors. Despite the antitumor activity of these agents, a significant number patients demonstrated immune-related adverse events that affected functions multiple organs, endocrine system. We report first case checkpoint inhibitor-induced simultaneous diabetic ketoacidosis...
Incidence of myocarditis following messenger RNA coronavirus disease 2019 vaccination has been widely described, but this clinical scenario after adenoviral vector only rarely reported. In addition, a few case reports thyroiditis have published.A 55-year-old Thai woman presented with palpitation without neck pain 14 days receiving AstraZeneca vaccination. Electrocardiography revealed sinus tachycardia. Her blood tests showed elevation cardiac troponin and free triiodothyronine suppressed...
<b><i>Background:</i></b> Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH thyroid dysgenesis 80-85% patients. Paired box gene 8 <i>(PAX8)</i> transcription factor that plays an important role organogenesis and development. To date, 22 different <i>PAX8 </i>gene mutations have been reported. <b><i>Methods:</i></b> Four generations Hungarian Jewish family were affected, the 3...
In a cross-sectional study of Thai medical students, we compared the seroprevalence antibody to measles virus, rubella varicella zoster hepatitis A and B virus with self-reports prior infection or vaccination. Self-report predicted immunity only. These data contribute risk assessment occupational health strategies in this resource-limited setting.
Resolving whether and how rare noncoding genetic variants cause Mendelian conditions remains challenging owing to the diverse mechanisms by which they disease. Here we demonstrate utility of single-molecule chromatin fiber sequencing (Fiber-seq) for resolving mechanistic basis condition autosomal dominant resistance thyrotropin (RTSH), had previously been linked within a short tandem repeat (STR) variant on chromosome 15.
Abstract Disclosure: H. Grasberger: None. A. Dumitrescu: X. Liao: E. Swanson: R.E. Weiss: P. Srichomkwun: T. Pappa: J. Chen: Yoshimura: Hoffmann: M. Franca: K. Onigata: S. Costagliola: Ranchalis: M.R. Vollger: A.B. Stergachis: J.X. Chong: M.J. Bamshad: G. Smits: Vassart: Refetoff: We previously identified a novel form of dominantly inherited resistance to TSH (RTSH), without or receptor mutations, that was linked locus on chromosome 15q (Grasberger et al., Hum. Genet. 2005). At birth,...
We sought to examine clinical characteristics and outcomes in patients hospitalized for acute heart failure (HF) thyrotoxicosis.Patients with thyrotoxic HF were compared age gender-matched (controls). Thyr-HF was defined by the Framingham criteria hyperthyroidism. Thyrotoxic cardiomyopathy as left ventricular ejection fraction (LVEF) < 55%.Of 11 109 consecutive between 1 January 2002 2017, 92 (0.8%) had HF. Clinical echocardiographic data available 87 (age 51 ± 16 years; 74% female),...
An outbreak of exogenous thyrotoxicosis is an uncommon cause thyrotoxicosis. This study aimed to investigate the characteristics and outcomes electrolyte imbalance in a prison during Phitsanulok, Thailand prison.
Background: Various etiologies account for bilateral adrenal masses including infections, malignancies and hemorrhage. Accurate diagnosis is needed to provide the best care patient. Clinical case: A 63-year-old Thai male patient with locally advanced rectal cancer was treated concurrent chemoradiotherapy in 2013. He had been followed up at oncology clinic regularly after his treatment there no evidence of recurrence. In early 2018, he presented anorexia, weight loss non-productive cough. His...
This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) 6 unrelated families. In patients, partial iodide organification defect (PIOD) normal uptake was observed, hence these cause thyroid dyshormonogenesis. All patients were detected by neonatal screening, presenting moderate to severe hypothyroidism, while goiter only 8 15 possibly due differences nutritional iodine uptake.
Background: Although the hungry bone syndrome (HBS) is a well-established thyroidectomy hypocalcemic complication in Graves’ disease, other etiologies of hypocalcemia after thyrotoxicosis treatment are rare. We aimed to report first case persistent factitia treatment. Case Description: A 56-year-old woman presented thyroid storm at Emergency Department referral hospital Bangkok, Thailand. Thyrotoxicosis was diagnosed due low thyroglobulin (Tg) level together with history using levothyroxine...