1/27. Large goiter and multiple rib tumors.We report an interesting case of a 47-yr-old who had a large goiter and multiple rib tumors. The patient was initially suspected of having thyroid cancer, which had metastasized on the ribs, based on imaging studies. However, laboratory tests revealed a high level of ionized calcium and parathyroid hormone (PTH). The large goiter was diagnosed as having parathyroid tumors owing to the high level of PTH in the tissue fluid. The biopsy specimen from a rib tumor was diagnosed as containing brown tumors associated with primary hyperparathyroidism (PHP). The patient also had prolactinoma and pancreatic gastrinoma. Her daughter had both prolactinoma and PHP, and her brother and her father had PHP. Thus, the patient was diagnosed as having multiple endocrine neoplasia type 1.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/27. Benign tumors of heterotopic tissue in the thyroid gland: a report of two cases of lipomatous lesions.A report of two cases, concerning heterotopic nests of fat cells in the thyroid gland, is presented here together with a review of lipomatous lesions in the literature. Both cases involved patients who presented with goiter; one had Grave's disease and the other had adenomatous hyperplasia. The fat cells were principally located in the subcapsular areas and scattered among the follicles. The distribution of the immunohistochemical staining, and the morphologic characteristics of the adipose tissue, suggested a probable origin of the fat cells from inclusion nests during embryogenesis of the thyroid gland.- - - - - - - - - - ranking = 65.360155587237keywords = adipose, fat (Clic here for more details about this article) |
3/27. Papillary carcinoma in amyloid goitre.Amyloid goitre is a rare lesion characterized by a diffuse and bilateral enlargement of the thyroid gland due to amyloid deposition. It is uncommon that a massive and widespread amount of adipose tissue deposition is found within these lesions and only in exceptional cases a differentiated carcinoma can develop. We describe the third example of thyroid carcinoma, arising in a 74-year old female who had also massive adipose thyroidal metaplasia, within amyloid goitre. The congo red stain confirmed the diagnosis of amyloid goitre. immunohistochemistry showed reactivity with MoAb against amyloid fibril protein A. The patient suffered from renal failure of undetermined aetiology for three years, but neither systemic amyloidosis nor risk factors for its development were found. It is important to correctly diagnose amyloid goitre both to rule out the presence of a differentiated thyroidal carcinoma and to search for amyloid infiltration in other organs in view of an early appropriate therapy.- - - - - - - - - - ranking = 124.72031117447keywords = adipose (Clic here for more details about this article) |
4/27. Amyloid goiter: report of two cases and review of the literature.OBJECTIVE: To describe two recent cases of amyloid goiter that occurred in two patients with a history of diffuse enlargement of the thyroid gland, progressing over several years' time. methods: We reviewed the medical histories as well as the histologic, immunohistochemical, and electron microscopic findings in these patients. RESULTS: Assessment of the clinical records of a 59-year-old man and a 64-year-old woman revealed histories that included chronic psoriasiform arthritis and asthma in conjunction with chronic obstructive pneumonia and bronchiectasis. In both cases, total thyroidectomy was performed. On histologic examination of both thyroid glands, the appearance was characterized by moderate to severe distortion of the normal thyroid architecture by amyloid in a perifollicular distribution and focally abundant interfollicular adipose tissue. In both cases, the amyloid stained intensely positive with congo red, which bleached after treatment with potassium permanganate. Immunohistochemical staining patterns were consistent with AA amyloid, and electron microscopy showed nonbranching 9-nm fibrils consistent with amyloid. CONCLUSION: The diagnosis of amyloid goiter should be suspected in patients with a diffusely enlarging thyroid gland and an appropriate clinical history.- - - - - - - - - - ranking = 62.360155587237keywords = adipose (Clic here for more details about this article) |
5/27. Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.We report two families in whom the index cases satisfied the classical diagnostic criteria of Pendred's syndrome. In family I, two siblings were deaf, and one was normal. In family II, both parents and two offspring were deaf. Computed tomography scans performed in five of six of these deaf individuals showed enlarged vestibular aqueducts in all cases, and Mondini cochlea only in family II. Affected members in family I were compound heterozygotes inheriting the paternal allele with a novel mutation S398del in exon 10 and a maternal allele with two mutations IVS13 9C-->G in intron 13, in addition to H723R. In family II, the mother and one child carried both the novel intronic IVS8-2A-->G and H723R mutations, whereas the father and index case were homozygous for the IVS8-2A-->G mutation. A perchlorate discharge test was positive in 50% of cases tested. In conclusion, we concur that radiological and molecular studies should be performed for confirmation of Pendred's syndrome. We report, for the first time, a Pendred's syndrome family in which affected members had three mutations, as well as a second family in whom the intermarriage of two Pendred's syndrome patients resulted in Pendred's syndrome offspring.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
6/27. Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.OBJECTIVE: Thyroid peroxidase (TPO) deficiency is one of the causes of thyroid dyshormonogenesis, because TPO plays a key role in thyroid hormone biosynthesis. To determine the frequency and pattern of TPO abnormalities, we have been screening TPO genes of patients with congenital goitrous hypothyroidism. SUBJECTS AND methods: TPO genes of a patient with congenital goitrous hypothyroidism and her parents were directly sequenced, and two novel missense mutations (R665W and G771R) were found. The former was derived from her father and the latter from her mother. R665 and G771 were well conserved in the peroxidase superfamily. When mRNAs containing each of the mutations were transfected into CHO-K1 cells, each cell showed faint TPO enzyme activity. However, immunofluorescence and immunoelectron microscopic analyses revealed that neither of the mutated TPOs reached the plasma membrane. CONCLUSIONS: Two novel missense mutations in the TPO gene were found. TPO proteins encoded by these mutated alleles showed abnormal cellular localization; namely, localization on the plasma membrane was disturbed. The loss of plasma membrane localization in mutated TPOs brought about the iodide organification defect, which was diagnosed as congenital hypothyroidism.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
7/27. Riedel's thyroiditis treated with tamoxifen.A 46-year-old woman with clinical diagnosis of Riedel's thyroiditis was admitted to our Department, presenting with dyspnea, dysphagia, fatigue, and hoarseness. Previously, she had been diagnosed with Hashimoto's thyroiditis and hypothyroidism. The disease had a progressive course and had lasted for a year before the definitive diagnosis of Riedel's thyroiditis was confirmed and treated with methylprednisolone, 12 mg daily, without success. We started therapy with tamoxifen, 10 mg twice a day, together with methylprednisolone, 16 mg daily, and L-thyroxin substitution therapy. The follow-up lasted for one year. Treatment with tamoxifen led to a significant subjective improvement and objective changes, confirmed by regular clinical examinations, ultrasonography, and computed tomography of the neck. After 8 months of therapy, the patient had no compression symptoms and goiter decreased in estimated weight from 105 g to 63 g according to ultrasound measurements. The patient underwent partial thyroidectomy at 10 months after diagnosis of Riedel's thyroiditis. Histopathology confirmed the diagnosis of Riedel's thyroiditis. Our report indicates that tamoxifen can be a valuable drug therapy in the treatment of Riedel's thyroiditis.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
8/27. Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.In this study, we have extended our initial molecular studies of a nonconsanguineous family with two affected siblings and one of their nephews with congenital goiter, hypothyroidism, and marked impairment of thyroglobulin synthesis. Genomic dna sequencing revealed that the index patient (affected nephew) was heterozygous for a single base change of a cytosine to a thymine at nucleotide 886 in exon 7 (886C>T, mother's mutation) in one allele and for a novel guanine to cytosine transversion at position -1 of the splice acceptor site in intron 34 (IVS34-1G>C, father's mutation) in the other allele. The two affected siblings inherited the 886C>T mutation from their mother and a previously reported cytosine to thymine transition at nucleotide 4588 in exon 22 from their father (4588C>T). The 886C>T and 4588C>T substitutions resulted in premature stop codons at amino acids 277 (R277X) and 1511 (R1511X), respectively. in vitro transcription analysis showed that the exon 35 is skipped entirely when the IVS34-1G>C mutation is present, whereas the wild-type allele is correctly spliced. SSCP (exon 7 and 35) and restriction analysis (exon 22) using Taq I indicated that the two affected siblings, the affected nephew, his mother, and his unaffected brother were all heterozygous for the R277X mutation. The two affected siblings, their father, and three unaffected siblings were all heterozygous for the R1511X mutation, whereas the affected nephew and his father were heterozygous for the IVS34-1G>C mutation. Moreover, in this kindred, we have characterized polymorphisms (insertion/deletion, microsatellite, and single nucleotide polymorphism) located within introns 18 and 29 and exon 44 that are associated with the described mutations. Haplotype analysis with these polymorphic markers in two unrelated Brazilian families (present family studied and previously reported family) harboring the R277X mutation suggests a founder effect for the R277X mutation. In conclusion, the affected individuals of this family are either compound heterozygous for R277X/IVS34-1G>C or R277X/R1511X. This observation further supports that thyroglobulin gene mutations display significant intraallelic heterogeneity.- - - - - - - - - - ranking = 4keywords = fat (Clic here for more details about this article) |
9/27. Sleepwalking associated with hyperthyroidism.OBJECTIVE: To report several cases of hyperthyroidism in patients presenting with the unusual symptom of sleepwalking and to discuss the possible pathophysiologic basis for this novel association. methods: After encountering and reporting the first case of new-onset somnambulism in a patient presenting with thyrotoxicosis at our institution, we routinely inquired about the sleep history of patients with thyrotoxicosis, questioning both the patients and family members when applicable. Those patients who actually had sleepwalking episodes coinciding with the onset of thyrotoxicosis underwent close follow-up, and the relationship between the sleepwalking and the results of thyroid function tests was analyzed. In addition, we reviewed the literature on psychiatric disorders and sleep problems, and the pathophysiologic rationale for a cause-and-effect relationship is discussed. RESULTS: We collected 8 cases of patients with new-onset sleepwalking episodes that coincided with the start of thyrotoxicosis. The disappearance of the sleepwalking with successful achievement of euthyroidism supports a cause-and-effect relationship. This hypothesis is further supported by the absence of a family history, the adult onset, and the relapse of sleepwalking in 2 of the patients when their thyrotoxicosis became poorly controlled as a result of noncompliance with medications and its subsequent disappearance with reachievement of euthyroidism. Of note, such a presentation was seen only in patients with thyrotoxicosis caused by diffuse toxic goiter or Graves' disease and never in patients with other causes of thyrotoxicosis. CONCLUSION: New-onset sleepwalking could be caused by thyrotoxicosis or, more specifically, by thyrotoxicosis resulting from diffuse toxic goiter. The mechanism is hypothesized to be related to the combination of prolongation of non-rapid eye movement sleep and the associated fatigue. Specific inquiry about this unusual presentation of thyrotoxicosis is encouraged, and more studies are needed to confirm and evaluate its extent.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
10/27. Lipid-rich cell thyroid adenoma: histopathology with comparative lipid analysis.A second case of the unique lipid-rich cell thyroid adenoma is described complemented by detailed lipid analysis. New observations were made. The cytoplasm of the tumour cells contained scattered, aggregated sudanophil crystals; under polarized light the frozen, unstained sections exhibited numerous birefringent lipid crystals; electron microscopy provided further evidence that the clear cell appearance was due to intracellular lipid droplets with scanty glycogen particles. Comparative lipid analysis by thin layer chromatography and high-pressure liquid chromatography (HPLC) revealed quantitative and qualitative differences in lipid composition of tumour cells when compared with goitre cells from normal thyroid gland and subcutane fat. Qualitative differences in triglyceride composition (by HPLC) between tumour cells and subcutaneous fat indicated that the fat accumulation in the follicle cells was not a result of simple storage, but an expression of altered intracellular lipid metabolism.- - - - - - - - - - ranking = 3keywords = fat (Clic here for more details about this article) |
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