Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
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Congenital hyperthyroidism is a very rare disease. But, for each affected child it has to be considered as a serious condition because of the negative impact of hyperthyroidism on fetal and postnatal development. If the manifestation occurs during fetal life tachycardia, cardiac arrhythmia, growth retardation and, most significant, prematurity are the consequences. Postnatal signs of hyperthyroidism are irritability, tachycardia, hypertension, poor weight gain and thyroid enlargement. Even cardiac failure may occur if hyperthyroidism is severe and treatment not adequate which explains the high early mortality rate of 16%. The main complication of persistent hyperthyroidism in the neonatal period and during infancy is craniosynostosis. Severe developmental delay or even mental retardation can be the consequence of inadequate high T4-levels during fetal and neonatal life. Congenital hyperthyroidism was first recognized in infants born to mothers with Graves' disease. The description of transplacental passage of the maternal thyroid stimulating antibodies elucidated the molecular mechanism in this major group of patients with "autoimmune congenital hyperthyroidism". In contrast to this transient, self-limited character of "autoimmune congenital hyperthyroidism", due to the clearance of maternal antibodies from the infant's circulation, some cases of persistent congenital hyperthyroidism without signs of thyroid autoimmunity have been recognized. Activating mutations in the thyroid-stimulating hormone receptor were described recently as the underlying molecular pathogenesis in this group of "non-immune congenital hyperthyroidism". Therefore the possibility of a molecular differential diagnosis of both groups of congenital hyperthyroidism now exists and opens the opportunity of optimal treatment for each patient.
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PMID:Congenital hyperthyroidism. 943 7

One hundred and one donors who had received filgrastim (rhG-CSF) for the purpose of donating either granulocytes or peripheral blood stem cells (PBSC) for their relatives more than 3 years ago were contacted. All donors had received daily rhG-CSF at a median dose of 16 microg/kg/day (range 3-16) for a median of 6 days (range 3-15 days). All collection procedures were completed and short-term side-effects of rhG-CSF were mild in the majority of the donors. At a median time interval of 43.13 months (range 35-73), the donors were contacted to assess whether adverse effects related to rhG-CSF administration had occurred. Prior to rhG-CSF two donors had cancer, one had a myocardial infarction, one was hepatitis C virus positive, one had a history of sinusitis, one had Graves' disease and two had arterial hypertension. None worsened with the rhG-CSF administration but the donor with a history of infarction had an episode of angina following apheresis, and the donor with Graves' disease had a stroke 15 months after rhG-CSF. Two pregnancies occurred after the rhG-CSF administration and one donor was 2-3 weeks pregnant during rhG-CSF treatment. Three pregnancies resulted in two normal births and one in a spontaneous abortion of a pregnancy which occurred more than 2 years following rhG-CSF. In the time following rhG-CSF administration two donors developed cancer (breast and prostate cancer) at a follow-up of 70 and 11 months, respectively. One donor developed lymphadenopathy 38 months after the rhG-CSF, which spontaneously resolved. Blood counts were obtained in 70 donors at a median follow up of 40.4 months (range 16.8-70.8). Hematocrit was 43% (median, range 36.8-48), white blood cells were 5.7 x 109/l (median, range 3-14), granulocytes 3.71 x 109/l (median, range 1. 47-10.36), lymphocytes 1.67 x 109/l (median, range 0.90-3.96), monocytes 0.46 x 109/l (median, range 0.07-0.87) and platelet counts were 193.0 x 109/l (median, range 175.0-240.0). This study indicates that short-term administration of rhG-CSF to normal donors for the purpose of mobilizing the PBSC or granulocytes appears safe and without any obvious adverse effects more than 3 years after the donation. Bone Marrow Transplantation (2000) 25, 85-89.
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PMID:Three to six year follow-up of normal donors who received recombinant human granulocyte colony-stimulating factor. 1065 20

A 55-year-old woman with HTLV-1 associated myelopathy (HAM) was discovered in a rentan kotatsu (Japanese foot warmer with a frame and a coverlet by burning briquet) with conscious disorder and admitted to an emergency hospital. Her conscious disturbance waned the 3rd day after admission with gradual improvement of communication and food intake. However, on the 18th day after admission, her orientation was poor again and she was unable to take food for herself and keep sitting. She was diagnosed as suffering from an interval form of acute carbon monoxide (CMO) poisoning and transferred to our hospital for the purpose of hyperbaric oxygen therapy on the 20th day after exposure to CMO. In the course of treatment she recovered but showed jaundice, pruritus, liver dysfunction and elevation of antimitochondrial antibody. She received liver biopsy and was found to have primary biliary cirrhosis (PBC). On the 150th day, she manifested perspiration and hypertension. The clinical and immunological feature revealed her Basedow's disease. The relationship between HAM and PBC due to the autoimmune process has been predicted by investigators. The implication of autoimmune disease and HLA haplotype is a main focus of attention. Our case supports their hypothesis, and suggested that the complication occurred with immunological and genetic correlation. Anti-HTLV-1 antibody was positive at a titer of 1:8192 before exposure to CMO. On transferring to us, it was negative and revealed excessive positive at a titer of 1:20,480 on the 80th day. Immunoglobulin analysis was normal on admission and increased during hospitalization. It was reported that prenatal exposure to relatively mild concentrations of CMO in rats reduces splenic macrophage phagocytosis and killing ability as well as macrophage respiratory burst. These data suggested that PBC and Basedow's disease were manifested by exposure to carbon monoxide.
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PMID:[Manifestation of primary biliary cirrhosis and Basedow's disease caused by exposure to carbon monoxide in a patient with HTLV-1 associated myelopathy]. 1096 51

Adult exposure to L-thyroxine has a wide range of presentations: most adults either do not develop symptoms or only become minimally symptomatic. Appropriate treatments after exposure to L-thyroxine have yet to be established. A 26-year-old woman with a suicidal intention was witnessed to ingest approximately 50 L-thyroxine tablets, each containing 0.1 mg L-thyroxine (total dose 5 mg). Cholestyramine was administered (4 g every 8 h p.o.). Vital signs were monitored every 6 h and the hormone levels (L-thyroxine and thyroid-stimulating hormone) every 24 h. The thyroxine levels increased, and the thyroid-stimulating hormone levels decreased, with a normalization of the L-thyroxine level on postingestion day 6. Hypertension, dysrhythmias, and delusions did not appear in our patient. Only distal tremor and diaphoresis appeared on day 1 after ingestion. Cholestyramine has been used in cases of iatrogenic hyperthyroidism, in patients with Graves' disease, and in patients with digoxin intoxications, with good responses in all cases and a low incidence of side effects. This case illustrates the potential utility of cholestyramine to treat L-thyroxine intoxications.
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PMID:Light symptoms following a high-dose intentional L-thyroxine ingestion treated with cholestyramine. 1200 23

During pregnancy physiologic changes in thyroid function occur which should not be misinterpreted as pathological. Thyroid disorders may complicate pregnancy and need thorough investigation and treatment in order to ensure a favourable pregnancy outcome. The incidence of hyperthyroidism in pregnant women has been reported to be approximately 0.2%. The leading cause is Graves' disease. Treatment of hyperthyroidism includes antithyroid drugs or surgery to avoid adverse effects on the neonate such as prematurity, intrauterine growth retardation and fetal or neonatal thyrotoxicosis. Use of radioactive iodine is contraindicated. Hypothyroidism during pregnancy is associated with gestational hypertension and low birth weight. Women on thyroid replacement therapy before pregnancy may require an increase in dosage during pregnancy. Pregnant women with chronic autoimmune thyroiditis have a higher incidence of spontaneous miscarriage. Nodular disease demands meticulous investigation to rule out a toxic adenoma or malignancy. Surgery in the case of cancer can be postponed under certain circumstances. Within one year following delivery, about 5-10% of women may exhibit postpartum autoimmune thyroid dysfunction, which may result in hypothyroidism.
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PMID:Thyroid disorders and pregnancy. 1551 65

We report a 32-year-old woman presenting with progressive symptoms of increased intracranial pressure and slight enlargement of the ventricles on CT scan. The underlying cause was hyperthyroidism due to Graves' disease. With treatment to correct the hyperthyroid state, all symptoms rapidly disappeared. The rare onset of hyperthyroidism with symptoms indicating intracranial hypertension, and the possible pathophysiologic mechanisms are discussed.
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PMID:Hyperthyroidism mimicking increased intracranial pressure. 1561 19

Edema develops as one of symptoms and signs in several endocrine disorders, and sometimes can be important clue in detecting the basal endocrine disorder. In patients with long-standing hypothyroidism, characteristic edematous skin changes develop and be called myxedema. In hyperthyroid patients with Graves' disease, peripheral edema sometimes develop with or without heart failure. Severe eyelid puffiness composing Graves' ophthalmopathy and 'circumscribing myxedema', mostly in the pretibial regions, are also highly disease-specific disorders. In Cushing's syndrome, both adrenal and ACTH-dependent, peripheral edema is sometimes important sign leading suspicion of this syndrome. In diabetic patients, attention should be paid to edema constantly especially with nephropathy and hypertension. In diabetic nephropathy stage 3B, aggravation of renal function is often progressive. Recently the range of therapeutic options of glycemic controls has been extended with introduction of thiazolidinediones (TZDs). Weight gain and peripheral edema are recognized side effects of these drugs, particularly when used in combination with insulin. The potential risk of worsened heart failure should be taken into consideration when TZDs are used in patients with diabetes and heart diseases.
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PMID:[Edema in endocrine and metabolic diseases]. 1567 23

Cushing's syndrome is characterized by endogenously increased production of glucocorticoids. The activity of immune system is regulated mainly by two systems in the body. Glucocorticoids and NF-kappaB counteract the effects of each other on the immune system. It has been reported that immune response is exaggerated after the amelioration of Cushing's syndrome. We report a rare case of exacerbation of Graves' disease after unilateral adrenalectomy for Cusing's syndrome. A 50-yr-obese woman with hypertension, dyslipidemia, impaired glucose tolerance and insulin resistance wasadmitted to outpatients clinic of endocrinology. The results of evaluation of glucocorticoids metabolism and adrenal magnetic resonance imaging revealed the Cusing's syndrome. We also assessed thyroid function tests because of the diagnosis of goiter and thyroid hormone replacement in her medical history, and the presence of exophthalmia and tachycardia in examination. Althoug TSH level was detected at the lower border of normal range, free T4 and free T3 were in normal range and autoantibody of thyroidal peroxidase and thyroglobulin was higer than normal reference range. An operation was performed and a mass was removed from her left adrenal gland. The pathologic examination confirmed adrenal adenoma. She was re-admitted to the outpatient clinic 9 months after with complaints of palpitation, malaise and weight loss. Tests carried out to determine the thyroid function revealed Graves' disease. We prescribed propylthiouracil and beta-blocker treatment.
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PMID:Exacerbations of Graves' disease after unilateral adrenalectomy for Cushing's syndrome. 1571 57

The association of renal disease and autoimmune thyroid disorders has been reported previously. Renal findings associated with autoimmune thyroiditis present more commonly as proteinuria ranging from mild to nephrotic levels. We report here two adolescent girls with hyperthyroidism associated with transient proteinuria correlated with thyroid hormone levels. They had positive antithyroid peroxidase and antithyroglobulin antibodies. Ultrasonographic and scintigraphic findings of the thyroid gland were consistent with Graves' disease in both. Their renal functions were normal except proteinuria (daily protein excretion of 13.5 mg/m2/h in patient 1 and 11 mg/m2/h in patient 2). When they became euthyroid on antithyroid treatment, proteinuria decreased without associated hematuria and/or hypertension. In conclusion, patients with autoimmune thyroid disease should be assessed for the possibility of proteinuria and the etiological investigation of proteinuria should include evaluation of thyroid functions.
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PMID:Autoimmune thyroiditis with associated proteinuria: report of two patients. 1581 12

We analyzed the clinical and laboratory data of 106 children (17 boys and 89 girls, 11.7 +/- 3.4 years old) with newly diagnosed Graves' disease at Chang-Gung Children's Hospital in Taiwan from 1995 to 2005. The earliest age of disease onset was 3.36 years old, and incidence progressively increased throughout childhood, with a peak at 15 years old. Forty-six (48%) of 95 children had a positive family history of thyroid disorders. We divided the children into three groups according to pubertal stage: prepubertal (Tanner stage 1), 34 (32%); pubertal (Tanner stage 2-4), 13 (12%); and postpubertal (Tanner stage 5), 59 (56%). The most common presentations were diffuse goiter, heat intolerance, sweating, palpitations, and weight loss despite an increase in appetite, but there were no significant differences among the three groups. Neuropsychiatric symptoms such as nervousness, hyperactivity and poor school performance are common features in these children. Height standard deviation score (0.33 +/- 1.35) revealed tall stature (0.39 +/- 1.66 in the prepubertal group, -0.066 +/- 0.63 in the pubertal group, and 0.40 +/- 1.23 in the postpubertal group). Bone maturation also was accelerated in all three groups (bone age/chronological age 1.09 +/- 0.22, 1.07 +/- 0.20, and 1.08 +/- 0.08), but there were no significant differences between groups. Body mass index (standard deviation score) was low in all three groups (-0.49 +/- 1.10, -0.68 .0.63, and -0.13 +/- 0.98), with no significant differences between groups. Tachycardia (96%), goiter (94%), fine tremor (92%), bruit (66%), hypertension (63%), and exophthalmos (60%) were the most frequent symptoms. Laboratory findings yielded undetectable TSH levels (<0.03 microIU/mL), increased FT4 (5.54 +/- 2.26 ng/dL), TT4 (18.37 +/- 4.79 microg/dL), and TT3 (450.4 +/- 202.2 ng/dL), with no significant differences between groups. The prevalences of positive TBII, AMCA, and TGAB were 96%, 95%, and 71%, respectively. In conclusion, we did not find any differences in the presentation of Graves' disease among prepubertal, pubertal, and postpubertal patients. An awareness of symptoms is necessary for prompt diagnosis and management of Graves' disease because the disease can seriously interfere with children's growth and development.
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PMID:Clinical and laboratory findings at initial diagnosis in pediatric Graves' disease in Taiwan. 1692 32


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