Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

POEMS syndrome has been defined as an association of plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes. Although certain authors do not distinguish this syndrome from osteosclerosing myeloma, syndromes comparable to POEMS have been observed without bone lesions. Others have described the clinical features involved under the terms of Crow-Fukase's syndrome, PEP syndrome (pigmentation, oedema, plasma cell dyscrasia, or Takatsuki's syndrome. Seen in men twice as often as in women, usually between the ages of 40-50 years, all five clinical features are not always present or may be accompanied by other signs. The first sign of the peripheral polyneuropathy is usually sensorial impairment followed by distal then proximal motor deficit. The deficit is usually severe and 50% of the patients become unable to walk. Cranial nerves are rarely involved. Liver, spleen and lymph node enlargement are observed. The most frequent signs of an endocrinopathy are gynaecomastia, atrophy of the testicules, impotence and amenorrhoea. Testosterone levels are low and oestrogen levels are increased in men together with luteinizing hormone, follicle stimulating hormone and prolactin. Hypothyroidism is frequent and diabetes mellitus is observed in 50% of the patients. Protein M is a monoclonal immunoglobulin (IgG or IgA), almost always with a light lambda chain. Skin changes include hyperpigmentation, hypertrichosis, hyperhidrosis, thickening of the skin suggestive of sclerodermia and papillary angiomas. Other signs, especially peripheral oedema often occur early in the disease course and may precede the peripheral neuropathy. POEMS syndrome is often associated with a myeloma (up to 50% of the cases in certain series). Although immunoglobulin deposit on myelin sheaths, anti-endocrine antibodies and receptors of lambda chains have been proposed as playing a role, no mechanism of pathogenesis has been determined. The natural history of the disease leads to a severe polyneuropathy. The patients become totally bedridden and death results from complications of decubitus rather from the direct effect of the underlying dyscrasia. When bone lesions are minor, radiotherapy or surgery can improve the neuropathy and resection of a solitary plasmocytoma can lead to total remission. Chemotherapy or corticosteroids may improve the polyneuropathy in certain cases. Plasma exchange has not been successful.
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PMID:[POEMS syndrome]. 807 60

At 20 weeks amenorrhoea, it is currently possible to determine with echocardiography whether a fetal heart, which then weighs approximately 400g with a diameter of 15 mm, is normal or not. The incidence of cardiac malformations has been estimated at 8 per 1000 fetuses. Fetal factors including retarded growth, hydramnios and arrhythmia and maternal factors including rubeola, diabetes, systemic lupus erythematosus, Rhesus incompatibility and drugs increase fetal risk. In certain cardiopathies such as aortic stenosis, coarctation, malformation of the mitral valve or left ventricle hypoplasia, the risk of recurrence in a second fetus is greatly increased. With 2D echocardiography, the apical section of the four heart cavities orients the heart in the thorax, identifies the atria and ventricles and visualizes valve movement. The origin of the aorta and the kinetics of the mitral and aortic valves are studied on the para-sternal section. TM mode reproduces the P-QRS sequence thus allowing a measurement of heart rate, the thicknesses of heart walls and septa and identifies conduction disorders. The transvalvular systolic pressures can be measured with Doppler echocardiography and pulsed Doppler quantifies blood flow through the different heart structures. Precision can be increased with colour coding. A complete echocardiography of the fetal heart should be an integral part of all examinations of fetal morphology. Usually performed between 22 and 32 weeks of amenorrhoea, echocardiography of the fetal heart requires a perfect understanding of two-dimensional Doppler modes and of three-dimensional representation of heart anatomy.
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PMID:[Fetal echocardiography. The normal heart]. 807 77

Medical conditions related to hormonal abnormalities were investigated in a case-control study of breast cancer among women who attended a screening centre. Information was obtained by telephone interview regarding physician-diagnosed medical conditions such as thyroid or liver diseases, diabetes, and hypertension, as well as hirsutism, acne, galactorrhoea, and reproductive, menstrual, and gynaecological factors. Results are presented for 354 cases and 747 controls. Women with fertility problems who never succeeded in becoming pregnant were at significantly increased breast cancer risk (adjusted odds ratio [OR] = 3.5; 95% confidence interval [CI]:1.1-10.9). An elevated cancer risk was also associated with having excess body hair (OR = 1.5; 95% CI:1.0-2.3), or having excess body hair in addition to persistent adult acne (OR = 6.8; 95% CI:1.7-27.1). Recurrent amenorrhea (OR = 3.5; 95% CI:1.1-11.5), and a treated hyperthyroid condition (OR = 2.2; 95% CI:1.1-4.4) were significantly associated with risk. A non-significant elevation of risk was present for endometrial hyperplasia (OR = 1.8; 95% CI: 0.8-4.0). There was a suggestion of an association between a history of galactorrhoea and breast cancer risk (OR = 2.0; 95% CI:0.8-4.9) among premenopausal women. No associations were found with other medical or gynaecological factors. The possibility that some of these findings are due to chance cannot be excluded because of the problem of multiple comparisons.
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PMID:The influence of medical conditions associated with hormones on the risk of breast cancer. 814 80

The phenomenon of clinical improvement of diabetes mellitus after occurrence of pituitary insufficiency has been reported occasionally in the medical literature, as a human counterpart of Houssay's experiment with hypophysectomized diabetic animals. We report the case of a 76-year-old woman who developed diabetes in 1928, at the age of 14, and was treated with low doses of insulin. At the age of 29, during the 7th month of her second pregnancy, she suddenly developed severe headaches and soon afterwards an intense polyuria which subsided under treatment with posterior pituitary extract. Her pregnancy followed to term but uterine stimulants had to be used at delivery because of lack of contractions. She was unable to nurse her baby and a permanent amenorrhea ensued. She continued using the posterior pituitary powder for several years, after which she discontinued it without adverse effects. The dose of insulin was decreased gradually until its replacement by chloropropamide in 1967 and glibenclamide in 1970. The present dose of glibenclamide is 2.5 mg daily, on which she has occasional mild hypoglycemic reactions. When the medication was discontinued for 5 days glycemia rose to 450 mg/dl but responded immediately to 2.5 mg of the drug with a mild hypoglycemia. She never required thyroid hormone therapy. Glucocorticoid substitution was instituted recently because of evidence of mild adrenocortical insufficiency. Basal hormone levels were normal for thyroxin, thyrotropin, FSH, LH, prolactin, hGH and cortisol; the responses to pituitary stimulation with TRH and LHRH were subnormal or nil. Cortisol stimulation with ACTH was normal. Insulin levels rose moderately after stimulation with glucagon, and with glibenclamide, with simultaneous marked decrease in glycemia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Houssay's phenomenon in man]. 820 16

To investigate hypothalamic and/or pituitary abnormalities in women with poorly controlled insulin-dependent diabetes mellitus (IDDM) and secondary amenorrhea, we measured serum LH every 10 min for 24 h and for 2 additional h after the administration of exogenous GnRH in 8 women with IDDM and amenorrhea and compared these to data from 15 eumenorrheic nondiabetic women. LH pulses were characterized by the pulse detection algorithm Cluster, and secretory episodes were evaluated using the multiple parameter deconvolution procedure Deconv. Cluster analysis revealed fewer LH pulses per 24 h (14.3 +/- 1.2 vs. 19.9 +/- 0.6; P < 0.001; mean +/- SEM), a greater peak width (63 +/- 4.9 vs. 44 +/- 2.2 min; P < 0.01), and greater peak area (136 +/- 17 vs. 89 +/- 13 IU/L.min; P < 0.01) in the diabetic women. Analysis with Deconv revealed fewer LH secretory episodes per 24 h in the diabetic women (14.4 +/- 0.9 vs. 20.4 +/- 0.5; P < 0.001) and no statistical difference in LH half-lives. The IDDM women responded to a 10-micrograms GnRH bolus with LH pulses of larger total (51 +/- 15.9 vs. 15 +/- 1.4 IU/L; P < 0.01) and incremental (29 +/- 7.6 vs. 9 +/- 1.2; P < 0.001) amplitude. In summary, we observed that amenorrheic diabetic women have fewer LH pulses/secretory episodes than normal women. However, they respond well to exogenous GnRH, suggesting that compromise of the GnRH pulse generator, rather than pituitary dysfunction, is responsible for their menstrual dysfunction.
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PMID:Alterations in luteinizing hormone secretory activity in women with insulin-dependent diabetes mellitus and secondary amenorrhea. 847 80

Over the last couple of decades a reduction of estrogen by at least 80% in combined oral contraceptives (OCs) and much research have resulted in effective and safe contraception. We still do not know longterm effects of OCs however. OCs may protect against endometrial and ovarian cancer. A link between current OC use and liver cancer exists in areas where liver cancer is rare. An association between OC use and cervical cancer disappears when researchers control for sexual activity and barrier method use. Some research shows OC use increases the risk of breast cancer, while other research does not. There does appear to be an increased risk of breast cancer developing in women younger than 46 years of age and who have used OCs for at least 10 years. Women who have a preexisting cardiovascular condition and/or smoke should not use OCs. OC progestogens may impair glucose metabolism in healthy women, but just for 6 months. Women with diabetes mellitus can use OCs, but may need to increase insulin intake. OCs can cause hypertension in 4-5% of healthy women and worsen hypertension in about 9-16% of hypertensive women. Progestogen-only OCs have fewer systemic side effects than combined OCs, but often cause menstrual changes. Their long term effects are not yet known. Injectables containing a progestogen cause few, if any, adverse effects. The subdermal implant, Norplant, tends to cause menstrual disturbances, but is safe and effective. Progestogen - only vaginal rings are as effective as progestogen-only OCs, but menstrual irregularities are common. Failure rates for combined vaginal rings match those of combined OCs. Long-term effects of vaginal rings are not known. Postcoital contraception does not cause serious side effects, but may cause vomiting and menstrual irregularities. A levonorgestrel-releasing IUD is effective and reduces menstrual blood loss, sometimes resulting in amenorrhea. Hormonal injections in men are unlikely in the near future.
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PMID:Hormonal contraception. 829 64

The US Food and Drug Administration finally approved the injectable contraceptive Depo-Provera (DMPA) in October 1992, 25 years after its introduction. Women return to a health facility every 90 days for an intramuscular injection of 150 mg DMPA, which provides them 99% effective contraception. Menstrual changes and spotting are the leading reasons for DMPA discontinuation. Eventually, more than 50% of DMPA users develop amenorrhea. During the first year, women gain about 2 kg and weight increases as time passes. Weight gain is the second leading reason for DMPA discontinuation. DMPA may adversely affect glucose tolerance in women at risk for diabetes, but it does not affect cardiovascular or metabolic functions. It may increase the risk of osteoporosis. A rare side effect is convulsions. 1-10% of DMPA users have other central nervous system effects, such as headaches, dizziness, and depression. Itching and rashes may develop. Fertility returns within 1 year after discontinuation. DMPA is linked to low birth weight. It apparently does not harm breast-fed infants or hinder lactation. A World Health Organization study shows that DMPA users less than 35 years old experience a slight increase in breast cancer but a reduced incidence of endometrial cancer. Nurses are instrumental in guiding women as they choose DMPA and in informing them about its potential side effects, including breast cancer risk. They must screen women for pregnancy and evaluate their risk of breast cancer. They must determine whether women are able to return every 3 months for DMPA injections. Women who select DMPA must use other contraception, e.g., barrier protection, within the first 24 hours after initial injection. Nurses should counsel them about the likely menstrual changes to reduce the likelihood of dissatisfaction. They should recommend a daily dose of 1200 mg of elemental calcium and daily exercise of long bones to minimize the risk of developing osteoporosis.
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PMID:Depo-Provera. 849 47

The aim of this prospective descriptive cross-sectional study was to examine the clinical significance of abnormal maternal serum human chorionic gonadotropin (MShCG) and alpha-fetoprotein (MSAFP) in the second trimester of pregnancy. The study group comprised 8892 women with a singleton pregnancy, who were screened for a neural tube defect and Down's syndrome. Exclusion criteria were unknown pregnancy outcome, a congenital anomaly, delivery before 25 weeks of amenorrhoea, or known insulin-dependent diabetes. MSAFP and MShCG were determined between 15 and 20 weeks' amenorrhoea. An abnormal result was defined as (a) MSAFP or MShCG > or = 2.5 MOM, (b) MSAFP or MShCG < or = 0.5 MOM, and (c) MSAFP and MShCG > or = 2.5 MOM. Birth weight percentiles and the duration of amenorrhoea at the time of delivery were employed as outcome parameters. Of the women with an abnormally elevated MSAFP, 9.4 per cent had an extremely small-for-gestational age (SGA) infant (< 2.3rd percentile; P < 0.01, relative risk 4.5), 27.1 per cent had an SGA infant (< tenth percentile; P < 0.01, relative risk 2.7), and 14.3 per cent had an appropriate-for-gestational age (AGA) infant that was delivered preterm (< 259 days; P < 0.01, relative risk 2.4). In the cases where the MShCG level was elevated, 4.4 per cent had an extremely SGA infant (P < 0.01, relative risk 2.1) and 15.5 per cent had an SGA infant (P < 0.01, relative risk 1.5). No significant association was found between an elevated MShCG level and preterm delivery. Low MShCG was significantly associated with SGA infants (P < 0.01, relative risk 1.2) but not with extremely SGA or preterm deliveries. In the group whose MSAFP and MShCG levels were both elevated, 23.8 per cent delivered an extremely SGA infant (P < 0.01, relative risk 10.9), 38.1 per cent an SGA infant (P < 0.01, relative risk 3.7) and 47.6 per cent had a preterm delivery or an SGA infant (P < 0.01, relative risk 3.0). Isolated or combined elevation of the MSAFP and MShCG levels in the second trimester of pregnancy is an indication for extra vigilance during further prenatal care. This applies to a lesser extent to a low MShCG level.
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PMID:Abnormal levels of maternal serum human chorionic gonadotropin and alpha-fetoprotein in the second trimester: relation to fetal weight and preterm delivery. 931 37

Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
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PMID:[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)]. 898 78

Regular blood transfusions in patients with beta-thalassaemia major lead to secondary hemochromatosis in the majority of cases. As a consequence of chronic iron overload, many endocrinopathies may occur. The most frequent endocrine dysfunction is hypogonadotropic hypogonadism, which is mainly responsible for osteopenia in as much as 80% of thalassemic patients. The frequencies of other endocrine disorders (hypothyroidism, diabetes mellitus and hypoparathyroidism) are lower. We investigated 5 female patients aged 22-25 years for endocrine dysfunction and bone density. All presented with hypogonadotropic hypogonadism and amenorrhea (four primary and one secondary). 4 patients showed absent or delayed pubertal development and short stature (below 10th percentile). In all five, hypogonadism is the most relevant cause of osteopenia as demonstrated by osteodensitometry. Endocrine disorders, especially absent pubertal development, should be detected in good time and treated with hormonal replacement. Established osteopenia is treated hormonally and with vitamin D3 and calcium.
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PMID:[Osteopenia in beta-thalassemia major]. 898 99


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