A5062231735- Thyroid Disorders and Treatments
- Thyroid Cancer Diagnosis and Treatment
- Diabetes and associated disorders
- Ophthalmology and Eye Disorders
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Glaucoma and retinal disorders
- Head and Neck Anomalies
- T-cell and B-cell Immunology
- Adrenal Hormones and Disorders
- Myasthenia Gravis and Thymoma
- BRCA gene mutations in cancer
- Salivary Gland Tumors Diagnosis and Treatment
- Cerebral Venous Sinus Thrombosis
- Ion channel regulation and function
- Thyroid and Parathyroid Surgery
- Digestive system and related health
- Urticaria and Related Conditions
- Vitamin D Research Studies
- Genetic factors in colorectal cancer
- Erythrocyte Function and Pathophysiology
- Monoclonal and Polyclonal Antibodies Research
- Neuroscience of respiration and sleep
- Retinal Diseases and Treatments
- Ocular Oncology and Treatments
Massachusetts General Hospital
2014-2024
Harvard University
2012-2024
University of Pisa
1992-2009
University of Massachusetts Chan Medical School
2004
Icahn School of Medicine at Mount Sinai
1997-2003
Thyroid microsomal antibodies (anti-M Ab) have been recently proven to be directed thyroid peroxidase (TPO). Methods detect anti-TPO (anti-TPO employing purified antigen developed, but the available information on clinical usefulness of this technique is still limited small patient series. In present investigation Ab were assayed by a newly developed monoclonal antibody-assisted RIA in large number (n = 715) subjects, including 119 normal controls and 596 patients with different autoimmune...
Eighty-two consecutive patients with moderate-to-severe and active Graves’ ophthalmopathy were randomly treated orbital radiotherapy combined either oral (prednisone; starting dose, 100 mg/d; withdrawal after 5 months) or iv (methylprednisolone; 15 mg/kg for four cycles then 7.5 cycles; each cycle consisted of two infusions on alternate days at 2-wk intervals) glucocorticoids. The groups did not differ age, gender, duration hyperthyroidism ophthalmopathy, prevalence smokers, thyroid volume,...
Several changes in thyroid function have been described the elderly and largely attributed to concomitant nonthyroidal illness. The extent which aging per se contributes these remains be elucidated, scanty data are available extremely old subjects. present study was designed focus on during physiological aging, taking advantage of two groups selected aged individuals: group A healthy centenarians (n = 41; age range, 100-110 yr) B including subjects by criteria EURAGE SENIEUR protocol 33;...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder characterized by hypoparathyroidism, adrenal failure, chronic mucocutaneous candidiasis, and ectodermal dystrophies other organ-specific autoimmune diseases. caused mutations of the regulator gene. We identified an Italian family with pattern inheritance suggestive dominant mechanism. Serological clinical studies showed high prevalence hypothyroid thyroiditis in affected members classical...
Accurate immunoassays measuring minute quantities of hormones are the cornerstone practice endocrinology. Despite tremendous advances in this field, novel pitfalls these tests emerge from time to time. Oral biotin can interfere with several hormones. The purpose report is relate an extreme case such interference.A patient progressive multiple sclerosis was found have extremely elevated free thyroxine, triiodothyronine, and suppressed thyrotropin (TSH) levels. His TSH receptor binding...
The autoimmune thyroid diseases (AITDs), comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), appear to develop as a result of complex interaction between predisposing genes environmental triggers. goals the present study were identify susceptibility loci for GD HT relationships them. We performed whole genome linkage on dataset 56 multiplex, multigenerational AITD families (354 individuals), using 387 microsatellite markers. identified 6 that showed evidence AITD. Only one...
One of the hallmarks human autoimmune thyroid diseases (AITDs) is production high titers autoantibodies against thyroglobulin and peroxidase that often precedes development clinical disease. A percentage family members patients with AITDs have significant antibodies (TAbs), suggesting a genetic predisposition for their development, segregation analyses favored dominant mode inheritance. The aim present study was to identify susceptibility genes TAb production. We completed genome-wide scan...
Measurement of thyroglobulin (Tg) in serum with anti-Tg autoantibodies (TgAb) represents a difficult challenge. Immunoradiometric assays (IRMA) employing monoclonal antibodies not cross-reacting endogenous TgAb have recently been developed and proposed for Tg TgAb-positive sera. The aim the present investigation was to assess clinical reliability this approach. Assays patients without using one such antibody IRMA (Thyroglobulin IRMA-Pasteur; IRMA-1) were compared those obtained by...
Graves' disease (GD) is an autoimmune thyroid (AITD) characterized by hyperthyroidism and the occurrence of a distinctive ophthalmopathy (orbitopathy), which presents with varying degrees severity. clusters in families but importance heredity pathogenesis associated unclear. We have studied family history 114 consecutive, ethnically mixed patients severe (GO). Patients were selected unambiguous single ascertainment. Seventyseven percent female 59% smoked. The mean age at onset their GD was...
Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are autoimmune thyroid diseases (AITD) in which multiple genetic factors suspected to play an important role. Until now, only a few minor risk for these have been identified. Susceptibility seems be stronger women, pointing toward possible role genes related sex steroid action or mechanisms on the X-chromosome. We studied total of 45 multiplex families, each containing at least 2 members affected with either GD (55 patients) HT (72...
Myasthenia gravis (MG) may occur in association with autoimmune thyroid diseases (AITD). The aim of this study was to evaluate the features MG associated AITD compared those without AITD. A total 129 patients (34 men and 95 women; age range, 11–81 yr) were subdivided into: group A, 56 [25 thyroiditis 31 Graves’ disease (GD)]; B, 21 nonautoimmune diseases; C, 52 disease. severity ranked according Osserman score. Laboratory evaluation included assays for antithyroid antiacetylcholine receptor...
The autoimmune thyroid diseases (AITD), encompassing Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), occur in genetically susceptible individuals. In order to identify the AITD susceptibility genes, we have studied DNA markers regions of 8 candidate genes: (1) HLA region, (2) TSH-receptor, (3) peroxidase, (4) thyroglobulin, (5) IDDM-4, (6) IDDM-5, (7) Immunoglobulin heavy chain gene (8) CTLA-4. One hundred seven subjects from 19 informative families were studied, 14 had GD 32 HT. LOD...