1/87. Fetal pituitary negative feedback at early gestational age.We describe an early prenatal diagnosis and the successful treatment of fetal Graves' disease from transplacental transfer of maternal thyroid stimulating autoantibodies (TSAb). The diagnosis of fetal thyrotoxicosis was made by umbilical cord sampling (UBS) at 20 weeks gestation, based on suppressed TSH with elevated FT4 levels. Therapy with propylthiouracil (PTU) improved fetal thyroid function tests as well as the clinical signs of fetal Graves' disease. Three more UBS were conducted before delivery indicating persisting mild fetal hyperthyroidism. Undetectable concentrations of thyrotrophin in fetal serum in the presence of markedly elevated FT4, suggests pituitary negative feedback at as early as 20 weeks gestation. amniotic fluid thyrotrophin levels were measured at 20,24 and 26 weeks and were shown to correlate better with (elevated) maternal rather than (suppressed) fetal TSH values; therefore, we believe that amniotic fluid thyrotrophin measurement is unreliable for prediction of fetal thyroid status. Our observation is the first documentation of an intact feedback mechanism so early in fetal development and it suggests that pituitary maturation occurs earlier than previously believed.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
2/87. Reversible cerebral hypoperfusion observed with Tc-99m HMPAO SPECT in reversible dementia caused by hypothyroidism.A 69-year-old man had hypothyroid dementia as a result of I-131 therapy and an overdose of methimazole. Tc-99m HMPAO SPECT revealed diffuse cerebral hypoperfusion. The findings of brain SPECT normalized with the disappearance of symptoms and a return to the euthyroid state. There was a 25% or 26% reduction of the mean cerebral blood flow during dementia. This may be the first report in which SPECT brain imaging revealed reversible hypoperfusion associated with reversible hypothyroid dementia.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
3/87. The role of restricted motility in determining outcomes for vertical strabismus surgery in Graves' ophthalmology.OBJECTIVE: To identify factors predictive of operative success or failure for vertical muscle surgery performed in patients with Graves' ophthalmopathy. DESIGN: Prospective noncomparative case series. PARTICIPANTS: Thirty-one consecutive patients with Graves' ophthalmopathy who demonstrated vertical ocular motor imbalance, with or without simultaneous horizontal muscle imbalance. INTERVENTION: Vertical extraocular muscle surgery performed either in isolation or in association with horizontal muscle surgery. MAIN OUTCOME MEASUREMENTS: Vertical limitations of extraocular muscles were correlated with preoperative hypertropia. Stepwise linear regression was used to determine the significant predictors of postoperative hypertropia in primary gaze. Logistic analysis was used to estimate the probability of surgical failure (>5 diopters) on the basis of preoperative parameters. RESULTS: The amount of preoperative hypertropia was negatively correlated with total restriction of vertical ductions (r = -0.52, P < 0.01). Preoperative hypertropia was positively correlated with asymmetry in muscle restriction between the two eyes (r = 0.67, P < 0.0001). The best predictor of preoperative hypertropia was the difference between restriction of the contralateral opposing recti, namely the right superior rectus, and the left inferior rectus, as well as the right inferior rectus and the left superior rectus (r = 0.74, P < 0.0001). Restriction of the contralateral opposing recti was also the most significant predictor of surgical success (postoperative hypertropia < 5 prism diopters). CONCLUSIONS: Surgery tailored to address restriction of ductions, specifically the difference between contralateral opposing recti, is likely to improve the success of initial surgery beyond that based primarily on the magnitude of the vertical deviation.- - - - - - - - - - ranking = 2keywords = duct (Clic here for more details about this article) |
4/87. Efficacy of oral iodide therapy on neonatal hyperthyroidism caused by maternal Graves' disease.OBJECTIVE: To verify the efficacy of oral iodide therapy in treating a case of early neonatal hyperthyroidism due to maternal Graves' disease. methods: We report a case of neonatal hyperthyroidism which occurred in a 2,650-gram, female baby, born at 39 weeks' gestational age (GA) to a 30-year-old mother affected by Graves' disease and treated with thionamides (propylthiouracil) from the 20th week of gestation. A fetal goiter, due to maternal therapy, had been observed by ultrasound scan at 31 and 35 weeks of gestation, with contemporary low cord thyroid hormone levels. Two intra-amniotic injections of levothyroxine were then performed at 34 and 36 weeks of gestation, which led to a significant reduction of fetal goiter and to normalization of cord thyroid hormone levels. The neonatal clinical course was characterized by symptoms of hyperthyroidism from the 2nd to 3rd days of life (irritability, tachycardia, tachypnea, hyperphagia), mostly during feeding. Oral treatment with potassium iodide (KI, 8 mg x 3 times a day) was started at 23 days of life. RESULTS: Treatment with KI led to a significant reduction of neonatal clinical symptoms and to a normalization of hormone levels within 4 days of therapy. The treatment was discontinued in 13th week of life because of neonatal well-being and normal hormone levels. CONCLUSIONS: We believe that KI therapy is effective in treating neonatal hyperthyroidism and does not cause suppression of neonatal thyroid activity, which is possible using antithyroid drugs like thionamides.- - - - - - - - - - ranking = 2keywords = duct (Clic here for more details about this article) |
5/87. cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS).Fas-mediated apoptosis may be one of the effector pathways leading to the elimination of virus-infected cells. cytomegalovirus (CMV) infection in two brothers with Fas deficiency associated with autoimmunity and benign lymphoproliferation (ALPS) provided a unique opportunity to study the clinical course of CMV infection in children with defective apoptosis. The clinical courses of two brothers with autosomal dominant ALPS who were infected with CMV in the neonatal period are described. CMV was detected from throat and urine culture from the brothers. ALPS was confirmed by in vitro anti-CD95 MoAb-induced T lymphocyte apoptosis assay and subsequent sequencing and identification of mutations in the Fas gene. A de novo mutation in the Fas gene, leading to a truncated cytoplasmic Fas product, was associated with autosomal dominant ALPS in a mother and her two sons. Both boys had evidence of CMV infection acquired early in infancy which cleared by the age of 2-3 years. There were no neurodevelopmental sequelae. The natural history of CMV infection in two infants with ALPS was similar to that described in normal children.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
6/87. Hyperfunction of neutrophils in a patient with BCR/ABL negative chronic myeloid leukemia: a case report with in vitro studies.BACKGROUND: Among patients diagnosed with chronic myeloid leukemia (CML), a small percentage lack a BCR/ABL fusion gene, a landmark of CML. Their clinical features are distinct from patients with BCR/ABL positive CML, although to the authors' knowledge the pathogenesis to date has been unknown. methods: A 50-year-old female patient with BCR/ABL negative CML and multiple complications of graves disease, sweet syndrome, and a fatal pulmonary alveolar proteinosis (PAP) is described in the current study. To show a clonal origin of her myeloid cells, hypoxanthine phosphoribosyltransferase (HPRT) assay was applied. Because the patient developed a progressive and fatal neutrophilia, a screening of cell functions in neutrophilic lineage, including in vitro colony assay of her bone marrow cells and production of superoxide and interleukin-8 (IL-8) by blood neutrophils was performed. RESULTS: Southern blot analysis based on the polymorphism of the HPRT gene was compatible with monoclonality of her neutrophils. The patient had an increased amount of bone marrow granulocyte-macrophage progenitor cells, which formed colonies in response to a very low dose (0.1 ng/mL) of granulocyte-colony stimulating factor. in vitro production of superoxide and IL-8, which is an inducer of positive chemotaxis of neutrophils, by her peripheral neutrophils was markedly augmented. Her bronchoalveolar lavage fluid also contained a significant amount of IL-8 as well as an unusual infiltration of neutrophils. CONCLUSIONS: In the patient in the current study, hyperfunction of the neutrophils might have contributed to the onset of PAP as well as sweet syndrome and to the pathogenesis of BCR/ABL negative CML.- - - - - - - - - - ranking = 2keywords = duct (Clic here for more details about this article) |
7/87. Medico-legal implications of hidden thyroid dysfunction: a study of two cases.In this paper we present two cases in which thyroid disorders were unexpectedly brought to view. The question we ponder is whether hidden thyroid dysfunction may be important in the cause, mechanism and manner of death, or just an incidental discovery during the post-mortem examination. A short literature review has been conducted in order to evaluate previously reported cases of thyroid pathology and sudden death. The significance of post-mortem evaluation of thyroid hormones (T3 and T4) will be considered briefly.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
8/87. Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism.Hereditary nonautoimmune hyperthyroidism is caused by activating germline mutations in the thyrotropin (TSH) receptor (TSHR) gene. We describe an extended Welsh kindred with toxic thyroid hyperplasia affecting 8 family members in three generations and a history consistent with thyrotoxicosis in a further three generations now deceased. A novel heterozygous germline mutation (ATG --> GTG; Met463Val) was identified in the second membrane spanning TSHR region in 6 relatives with thyrotoxicosis and goiter and absence of TSHR antibodies. Screening of 5 additional family members led to the identification of 2 siblings with the mutation, who were asymptomatic at the time, although subsequent thyroid function tests in these children showed suppressed serum TSH and increased serum free triiodothyronine (FT3) and free thyroxine (FT4) concentrations. Functional studies of the novel TSHR germline mutation demonstrated a constitutive activation of the cAMP pathway, which in the thyroid controls both thyroid hormone production and stimulation of thyroid growth. The molecular diagnosis in this family has clinical implications: genetic counseling is required, and primary thyroid ablation should be advocated as the preferred treatment in the patients with the constitutively activating TSHR germline mutation.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
9/87. Leukocytoclastic vasculitis: a rare manifestation of propylthiouracil allergy.OBJECTIVE: To report a case of leukocytoclastic vasculitis as a manifestation of propylthiouracil allergy. methods: We present the history, findings on physical examination, and results of laboratory evaluation in a 25-year-old woman. Associated reports from the literature are reviewed. RESULTS: The patient, with a history of Graves' disease, was referred for evaluation of a purpuric rash on the pinnas and buttocks bilaterally. Findings included exophthalmos and bilateral goiter with neck bruits. She was biochemically hyperthyroid. biopsy of the skin lesions revealed leukocytoclastic vasculitis. propylthiouracil therapy was discontinued, and prednisone was prescribed. Treatment with radioactive iodine resulted in appreciably diminished skin lesions and reduction in the size of the thyroid gland, but thyroxine and triiodothyronine levels increased. Administration of a second, higher dose of radioactive iodine with concomitant lithium carbonate resulted in clinical and biochemical improvement. Six months after initial assessment, the rash had resolved, and the patient's free thyroxine value had normalized, although the thyrotropin level was still suppressed. CONCLUSION: Leukocytoclastic vasculitis, although rarely seen as a manifestation of propylthiouracil allergy, has been reported in the medical literature and should be considered in the differential diagnosis of patients with a vasculitic rash. Treatment consists of discontinuation of the offending medication and administration of a corticosteroid and, occasionally, cyclophosphamide or plasmapheresis.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
10/87. Thyroid carcinoma and Graves' disease.OBJECTIVE: To describe an unusual patient with thyroid carcinoma who had metastatic pulmonary nodules that regressed transiently during the active phase of Graves' disease. methods: The clinical, pathologic, and laboratory findings in a female patient with thyroid carcinoma, pulmonary lesions, and Graves' ophthalmopathy are presented. In addition, the patient's clinical course and results of serial studies are reviewed. RESULTS: A 62-year-old woman underwent excision of a follicular carcinoma of the thyroid and then total thyroidectomy in 1984. Two years later, chest radiography disclosed multiple pulmonary lesions; open-lung biopsy revealed follicular carcinoma. thyroglobulin determinations continued to increase, and computed tomography of the chest showed an increase in the size and number of pulmonary nodules. Clinically, the patient remained unchanged until 4 years postoperatively, when she noted rapid onset of diplopia, proptosis, and diminished visual acuity. During this time, a thyroid-stimulating immunoglobulin assay was strongly positive, thyroglobulin levels were decreased, and computed tomography and radiography of the chest showed evidence of tumor regression. Orbital decompression partially restored vision, and the inflammatory signs decreased gradually. Concurrently, the thyroid-stimulating immunoglobulin level declined, the thyroglobulin level increased, and the pulmonary lesions increased in size and number. The patient ultimately died of metastatic disease. CONCLUSION: The reduction in size of the pulmonary nodules and decrease in thyroglobulin levels when the thyroid-stimulating immunoglobulin level was high and the regrowth of lesions when it declined suggest a causal relationship. The hypothesis of an operative autoimmune factor cannot be substantiated without serologic evidence in this case but should prompt physicians to search for other such occurrences.- - - - - - - - - - ranking = 1keywords = duct (Clic here for more details about this article) |
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