A5071309763- Thyroid Disorders and Treatments
- Thyroid Cancer Diagnosis and Treatment
- Regulation of Appetite and Obesity
- Growth Hormone and Insulin-like Growth Factors
- Pituitary Gland Disorders and Treatments
- Hypothalamic control of reproductive hormones
- Adipose Tissue and Metabolism
- Adrenal Hormones and Disorders
- Ovarian function and disorders
- Ion channel regulation and function
- Adrenal and Paraganglionic Tumors
- Neuroendocrine regulation and behavior
- RNA Research and Splicing
- Sexual Differentiation and Disorders
- Nuclear Structure and Function
- Stress Responses and Cortisol
- Adipokines, Inflammation, and Metabolic Diseases
- Diet and metabolism studies
- Hormonal Regulation and Hypertension
- Neuroscience of respiration and sleep
- Menstrual Health and Disorders
- Thyroid and Parathyroid Surgery
- Hearing, Cochlea, Tinnitus, Genetics
- RNA and protein synthesis mechanisms
- PARP inhibition in cancer therapy
University of California, Davis
2024
VA Northern California Health Care System
2024
Texas Tech University
2005-2020
Truman Medical Center
2020
University of Missouri–Kansas City
2020
Texas Tech University Health Sciences Center
2005-2020
Complejo Hospitalario Universitario de Santiago
1991-2016
Mayo Clinic in Florida
2016
Universidade de Santiago de Compostela
1991-2013
Servicio Gallego de Salud
2007
Menstrual irregularity is a common complaint at presentation in women with Cushing's syndrome, although the etiology has been little studied. We have assessed 45 female patients (median age, 32 yr; range, 16-41 yr) newly diagnosed pituitary-dependent syndrome. Patients were subdivided into 4 groups according to duration of their menstrual cycle: normal cycles (NC; 26-30 days), oligomenorrhea (OL; 31-120 amenorrhea (AM; > 120 and polymenorrhea (PM; < 26 days). Blood was taken 0900 h for...
Summary Objective Septic shock is one of various causes nonthyroidal illness syndrome (NTIS). In humans, the molecular mechanisms involved in NTIS are mostly unknown. The aim this study was to investigate, patients with secondary septic shock, changes expression genes actions thyroid hormones and activity deiodinase enzymes, two tissues important for protein energy metabolism, skeletal muscle (SM) subcutaneous adipose tissue (SAT). Design Hospitalized were divided into a control group....
Objective Toxic thyroid adenoma (TA) is a common cause of hyperthyroidism. Mutations in the TSH receptor ( TSHR ) gene, and less frequently adenylate cyclase-stimulating G alpha protein GNAS are well established causes TA Europe. However, genetic remain unknown small percentage cases. We report first study to investigate mutations , kinase, cAMP-dependent, regulatory, type I PRKAR1A RAS genes, large series from Galicia, an iodine-deficient region NW Spain. Design methods Eighty-five samples...
The syndrome of impaired sensitivity to thyroid hormone, also known as hormone resistance, is an inherited condition that occurs in 1 40,000 live births characterized by a reduced responsiveness target tissues due mutations on the receptor. Patients can present with symptoms hyperthyroidism or hypothyroidism. They usually have elevated hormones and normal thyroid-stimulating level. Due their nonspecific symptomatic presentation, these patients be misdiagnosed if primary care physician not...
<h3>Background:</h3> Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks results from mutations <i>LMNA</i> gene. <h3>Aim:</h3> To evaluate role several genes involved adipogenesis order to better understand underlying mechanisms regional subcutaneous adipose tissue (scAT) patients with FPLD2. <h3>Methods:</h3> In total, 7 FPLD2 10 healthy control participants were studied. A minimal model was used calculate insulin sensitivity (IS). scAT...
Summary Background Lipodystrophies are a heterogeneous group of diseases characterized by abnormal fat distribution. Familial partial lipodystrophy 2 (FPLD2) is due to mutations in the LMNA gene. Previous studies have suggested that 5′ nuclear localization signal (NLS) more likely underlie laminopathies with cardiac or skeletal muscle involvement, while 3′ NLS and progeroid syndromes. Objective To study clinical molecular features subject FPLD. Subjects methods We carried out mutational...
Non-thyroidal illness syndrome (NTIS) is part of the neuroendocrine response to stress, but significance this remains uncertain. The aim study was investigate effect lipopolysaccharide (LPS)-induced NTIS on thyroid hormone (TH) levels and TH molecular targets, as well relationship between septic shock nuclear factor kappa-light-chain-enhancer activated B cells (NF-kB) activation receptor β (THRB) gene expression at a multi-tissue level in pig model. Prepubertal domestic pigs were given i.v....
We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter hypothyroxinemia but normal TSH free T3 (FT3). B, some affected members showed deafness not goiter.
Non-thyroidal illness syndrome (NTIS) is related to changes in thyroid hormone (TH) physiology. Skeletal muscle (SM) plays a major role metabolism, and TH regulates SM phenotype metabolism. We aimed characterize the of non-septic shock NTIS patients terms of: i) expression genes proteins involved metabolism actions; ii) NFKB's pathway activation, responsible factor for some phenotypic NTIS. also investigated whether patient's serum can induce vitro effects observed vivo.Serum samples...
Summary Objective Alterations in the hypothalamic–pituitary–thyroid axis have been reported following growth hormone ( GH ) replacement. The aim was to examine relationship between changes serum concentration of thyroid hormones and deiodinase activity subcutaneous adipose tissue, before after Design A prospective, observational study patients receiving replacement as part routine clinical care. Patients Twenty adult hypopituitary men. Measurements Serum TSH , – free total thyroxine (T4)...
Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing retention ultrastructural changes that resemble an endoplasmic reticulum storage disease.To reveal new aspects of thyroglobulin pathophysiology through clinical, cellular, molecular, and genetic studies family presenting CH due to TG from Galicia, iodine-deficient area Spain.The...
Fasting inhibits the gonadotropic axis and stimulates corticotropic somatotropic axes. Since leptin is a product of fat cells that has been implicated in control both reproduction metabolism, we hypothesized decrease observed during fasting was responsible for these effects on reproductive metabolic hormones. Recombinant rhesus (rrhLep) produced our laboratory infused (100 µg/h) into fasted adult male macaques (6–9 kg) beginning at midnight after first missed meal continuing until end study....
OBJECTIVES Although the adipocyte protein leptin has been implicated in control of reproductive function rodents, its role primate physiology is poorly understood. Because primates puberty show nighttime LH secretion and there considerable evidence that fertile state requires adequate nutrition, we reasoned animals on verge competence would respond to infusions by secreting LH. Food restriction reduces circulating levels slows or stops GnRH pulse generator. Therefore, examined endocrine...
Diabet. Med. 27, 1178–1187 (2010) Abstract Aims Beradinelli–Seip congenital generalized lipodystrophy is a rare autosomal recessive disorder characterized by near‐complete absence of adipose tissue, Herculean appearance, insulin resistance, hypoleptinaemia and diabetes mellitus. The aim this study was to investigate the in vitro effects pioglitazone on expression genes involved adipogenesis fibroblasts from patient with condition due seipin mutation. Methods Primary cultures skin were...
The authors' institution-a safety net, university, and tertiary-care hospital located in West Texas-has a high number of admissions for complicated thyrotoxicosis. It was hypothesized that unfavorable socioeconomic conditions result increased risk poor outcomes hyperthyroid patients, rates hospitalization thyrotoxicosis Texas. primary aim this study to identify factors associated with admission patients living the Panhandle Llano Estacado Texas.A retrospective chart review aged ≥18 years...
Our main objective was to search for mutations in candidate genes and paired box gene 8–peroxisome proliferator-activated receptor gamma ( PAX8–PPARγ ) rearrangement a well-differentiated angioinvasive follicular thyroid carcinoma (FTC) causing hyperthyroidism. DNA RNA were extracted from the patient's tumor, as well ‘normal’ tissue, peripheral blood lymphocytes (PBLs) of patient, her daughter, two siblings. Nuclear isolation ’normal’ PBLs, uterine leiomyoma tissue. TSH TSHR ), RAS , BRAF...
Transgender women experience higher-than-average rates of multiple medical conditions. Thyroid cancer occurs more frequently in those assigned female at birth than male birth. We sought to characterize thyroid among transgender veterans.
Resistance to thyroid hormone (RTH) is a syndrome of reduced sensitivity hormone, most commonly caused by mutations in the receptor (TR) β gene. Mutations are mostly located ligand-binding domain TRβ, decreasing T3 binding mutant TRβ molecule, which turn interferes with function wild-type (WT) TR. A total 122 different gene have been identified so far, 46 occurring more than one family. We now report family two novel same nucleotide. The proposita had children from each her marriages. One...
Mutations in SLC16A2, the gene encoding thyroid hormone (TH)-specific transporter monocarboxylate 8 (MCT8), result a phenotype and severe mental retardation caused by neuronal TH deficiency. These mutational effects raise question of whether polymorphic variation SLC16A2 may also be associated with differences serum levels and/or TSH.This is first major study frequency rs6647476 single nucleotide polymorphism (SNP) (amino acid change Ser107Pro). We studied relationships genetic variants TSH,...
Background: Resistance to thyrotropin (TSH) causes congenital hypothyroidism (CH). TSH receptor (TSHR) and adenylate cyclase-stimulating G alpha protein subunit (GNAS) loss-of-function mutations cause resistance. We describe a family with resistance CH bearing combination of inactivating in TSHR GNAS genes. studies determine the molecular mechanisms involved this family. Methods: DNA sequencing identify gene was performed. In vitro effects on cAMP production binding were investigated COS7...