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)

Hypoparathyroidism is a rare disease with hypocalcemia as the leading symptom. In adults, hypocalcemia is mainly due to postoperative hypoparathyroidism. Hypoparathyroidism requires lifelong therapy with vitamin D or metabolites. Genuine vitamin D3 (Vigantol) is the most economic treatment of hypoparathyroidism; however, vitamin D3 has a very long biologic half life with the subsequent danger of chronic vitamin D intoxication. Dihydrotachysterol (A.T.10), an analogue of vitamin D, acts similarly and can be used alternatively. 1,25-dihydroxyvitamin D3 (Rocaltrol), the biologically active metabolite of vitamin D3, is very potent, but bears the danger of causing acute intoxication; it has a short half life and is more expensive than vitamin D3. A further metabolite, 1-hydroxy-vitamin D3 (alfacalcidol, Doss, EinsAlpha) is available for therapeutic use. Clinical intervention trials concerning the best therapy and management of hypoparathyroidism are lacking. We therefore surveyed German physicians treating hypoparathyroidism. Furthermore, we carried out a retrospective study of 45 patients treated in our endocrinology department during the last 8 years and examined whether measurement of 25(OH)-vitamin D3 is helpful in managing hypoparathyroidism. The data from 59 children and 270 adults could be completed in the survey. 1,25-dihydroxyvitamin D3 was the only vitamin D agent that was administered in the treatment of children, whereas in adults 52% were treated with dihydrotachysterol, 28% with genuine vitamin D3, and 20% with 1,25-dihydroxyvitamin D3. There was a positive correlation between serum 25(OH)-vitamin D3 levels and administered vitamin D3 doses. In patients treated with vitamin D3, serum calcium levels correlated significantly with serum 25(OH)-vitamin D3 levels whereas they did not correlate with administered calcium doses. Thus: (1) in Germany dihydrotachysterol is preferred for therapy of hypoparathyroidism in adults and (2) measurement of serum 25(OH)-vitamin D3 may be helpful in assessing efficacy of therapy and compliance in patients treated with vitamin D3.
Exp Clin Endocrinol Diabetes 1997
PMID:Current therapy of hypoparathyroidism--a survey of German endocrinology centers. 928 13

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.
Exp Clin Endocrinol Diabetes 1997
PMID:Congenital hyperthyroidism. 943 7

Thyrotoxicosis in childhood and adolescence is a rare disease most frequently due to Graves' disease, but non-autoimmune adenomatous goiters are also found. A strong correlation to HLA class II DRB1*0301 and a protective role of DRB1*0701 has been established in juvenile Graves' disease. The natural course of the disease seem to be remission in many, if enough observation time is allowed. Apart from goiter size and the severity of disease at onset, no certain prognostic factors has yet been identified. The treatment modality chosen is not evidence based, but rather tradition, personal experience and pragmatic handling of cases. Prospective, multicenter studies are still in need to answer the questions asked to ensure rational guidelines and consensus. Such studies should also address the essential problem of compliance, one of the important issues in longterm medical treatment.
Exp Clin Endocrinol Diabetes 1997
PMID:Clinical aspects and treatment of juvenile Graves' disease. 943 17

Thyroid cancer is a rare disease in childhood and adolescence. However, it represents the most frequent cancer type in this age group. Thyroid cancer amounts about 0.5%-1.5% of all malignancies in children and adolescents. In Germany 10-30 cases could be expected in a year. The most common histologic type for this age group is the differentiated thyroid cancer (DTC), i.e. the papillary and follicular subtypes (90%). In 10% of patients medullary thyroid cancer (MTC) will be diagnosed. DTC occur more often in girls than in boys (female/male-ratio 2:1), with a median age of about 12-13 years (yrs). An important aetiological factor of DTC is a former exposition to different kinds of radiation. In childhood and adolescence MTC mostly appears in patients suffering from the syndrome MEN-2, whereas the sporadic form is rare. As in DTC, more girls than boys can be diagnosed for MTC (female/male-ratio 2-3:1), with a median age about 10 yrs. The anaplastic/undifferentiated subtype occurs extremely rare. For all types of thyroid cancer the most important therapeutic approach is the surgical intervention. In most cases of DTC an optimal disease control could be achieved by radioiodine therapy. Prognosis of DTC in children and adolescents is favourable. However, therapeutic strategies and modalities reported in the literature are very different. In contrast, prognosis of MTC is rather poor, that of the anaplastic type is infaust. No other effective therapy option than surgery is available. To evaluate the therapeutic efficacy of a combined modality therapy by both radiotherapy and cytostatic drugs in children and adolescents with poor prognosis types of thyroid cancer, an interdisciplinary multicenter therapy study will now be started in Germany.
Exp Clin Endocrinol Diabetes 1997
PMID:Epidemiology and therapy of thyroid cancer in childhood and adolescence. 943 21

Spinal epidural abscess (SEA) is a rare disease with an unknown incidence rate. This paper will illustrate that early diagnosis and rehabilitation may result in improved outcomes for patients with neck or back pain presenting with neurological deficits. Three cases of SEA in individuals without the commonly acknowledged risk factors of intravenous drug abuse (IVDA), invasive procedures, or immunosuppression were seen at our institution during a 10-month period between October 1995 and July 1996. The patients presented with neck or thoracic back pain and progressive neurological deficits without a febrile illness. Predisposing factors were thought to be urinary tract infection with underlying untreated diabetes mellitus in the first case, a history of recurrent skin infection in the second, and alcoholism without a definite source of infection in the third. Leukocytosis, elevated sedimentation rate, and confirmatory findings reported on magnetic resonance imaging (MRI) led to the diagnosis of SEA in all three cases. Immediate surgical drainage and decompression followed by proper antibiotic treatment and early aggressive rehabilitation led to good functional outcomes. All the individuals became independent in activities of daily living, wheelchair mobility, and bowel and bladder management. Two eventually became ambulatory.
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PMID:Myelopathy secondary to spinal epidural abscess: case reports and a review. 1009 48

A 67-year-old patient was admitted for diabetes mellitus. Incidentally a large ulcerating tumour was found on the right upper leg. The patient had been suffering from the lesion for six years but had never dared to show it to her physician. Notwithstanding negative outcome of thin needle aspiration oncological dissection was carried out. Histopathological examination proved the tumour to be a malignant clear cell hidradenoma, which is a rare eccrine tumour. This tumour is known to be aggressive and easily spreads to locoregional lymph nodes. Even though it is a rare disease, the aggressive behaviour and the poor prognosis warrant alertness to this neoplasm.
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PMID:[A woman with an advanced malignant clear cell hidradenoma]. 1048 74

Nephrogenic diabetes insipidus (DI) secondary to chronic urinary tract obstruction is a rare disease. The exact cause is unknown but it is likely that increased collecting duct pressures cause damage to the tubular epithelium, resulting in insensitivity to the action of arginine-vasopressin (AVP). A 77-year-old man complaining of polyuria and polydipsia was treated with alpha glucosidase inhibitor under the impression of polyuria due to diabetes mellitus. But his symptoms did not improve. Water deprivation and AVP administration study revealed that the patient had nephrogenic DI. Urinary tract obstruction due to an enlarged prostate was suggested as a principal cause of nephrogenic DI. The patient underwent transurethral resection of the prostate and bilateral subcapsular orchiectomy. After surgery, the urine osmolarity was normalized and the patient became symptom-free. We report a case of nephrogenic DI due to obstructive uropathy which was cured by surgery eliminating obstruction.
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PMID:A case of nephrogenic diabetes insipidus caused by obstructive uropathy due to prostate cancer. 1073 36

Classic Cushing's syndrome is a rare disease with an estimated incidence of 1 case per 100,000 persons. With routine use of imaging techniques such as ultrasound and CT, adrenal masses are being detected with increased frequency. A substantial percentage of these incidentalomas are hormonally active, with 5% to 20% of the tumors producing glucocorticoids. Autonomous glucocorticoid production without specific signs and symptoms of Cushing's syndrome is termed subclinical Cushing's syndrome. With an estimated prevalence of 79 cases per 100,000 persons, subclinical Cushing's syndrome is much more common than classic Cushing's syndrome. Depending on the amounts of glucocorticoids secreted by the tumor, the clinical spectrum ranges from slightly attenuated diurnal cortisol rhythm to complete atrophy of the contralateral adrenal gland with lasting adrenal insufficiency after unilateral adrenalectomy. Patients with subclinical Cushing's syndrome lack the classical stigmata of hypercortisolism but have a high prevalence of obesity, hypertension, and type 2 diabetes. All patients with incidentally detected adrenal masses scheduled for surgery must undergo testing for subclinical Cushing's syndrome to avoid postoperative adrenal crisis. The best screening test to uncover autonomous cortisol secretion is the short dexamethasone suppression test. Because the adrenal origin of a pathologic cortisol secretion is anticipated, the author prefers a higher dexamethasone dose (3 mg instead of 1 mg) to reduce false-positive results. A suppressed serum cortisol level of less than 3 micrograms/dL (80 nmol/L) after dexamethasone excludes significant cortisol secretion by the tumor. A serum cortisol level greater than 3 micrograms/dL requires further investigation, including confirmation by high-dose dexamethasone (8 mg) suppression testing, a CRH test, and analysis of diurnal rhythm. Determination of urinary free cortisol is less useful because increased values are a late finding usually associated with emerging clinical signs of Cushing's syndrome. Patients with suppressed plasma ACTH in response to CRH generally have adrenal insufficiency after surgery and require adequate perioperative and postoperative substitution therapy. Whether patients with subclinical Cushing's syndrome should undergo adrenalectomy is a matter of debate. The author performs surgery in young patients (< 50 years), in patients with suppressed plasma ACTH, and in patients with a recent history of weight gain, substantial obesity, arterial hypertension, diabetes mellitus, and osteopenia. In completely asymptomatic patients with normal plasma ACTH concentrations and in patients older than 75 years, the author recommends a nonsurgical approach. A large prospective randomized study is necessary to evaluate the benefits of surgery versus conservative treatment in patients with subclinical Cushing's syndrome.
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PMID:Subclinical Cushing's syndrome. 1073 63

Transient neonatal diabetes mellitus (TNDM) is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. This disease is associated with paternal uniparental disomy or paternal duplication of chromosome 6, suggesting that the causative gene(s) for TNDM is imprinted. Recently, Gardner et al. (1999, J. Med. Genet. 36: 192-196) proposed that a candidate gene for TNDM lies within chromosome 6q24.1-q24.3. To find human imprinted genes, we performed a database search for EST sequences that mapped to this region, followed by RT-PCR analysis using monochromosomal hybrid cells with a human chromosome 6 of defined parental origin. Here we report the identification of a novel imprinted gene, HYMAI. This gene exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island and is expressed only from the paternal chromosome. A previously characterized imprinted gene, ZAC/LOT1, is located 70 kb downstream of HYMAI and is also expressed only from the paternal allele. In the pancreas, both genes are moderately expressed. HYMAI and ZAC/LOT1 are therefore candidate genes involved in TNDM. Furthermore, the human chromosome 6q24 region is syntenic to mouse chromosome 10 and represents a novel imprinted domain.
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PMID:A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. 1093 46

In the intestinal lumen thiamine is in free form and very low concentrations. Absorption takes place primarily in the proximal part of the small intestine by means of a dual mechanism, which is saturable at low (physiological) concentrations and diffusive at higher. Thiamine undergoes intracellular phosphorylation mainly to thiamine pyrophosphate, while at the serosal side only free thiamine is present. Thiamine uptake is enhanced by thiamine deficiency, and reduced by thyroid hormone and diabetes. The entry of thiamine into the enterocyte, as evaluated in brush border membrane vesicles of rat small intestine in the absence of H+ gradient, is Na+- and biotransformation-independent, completely inhibited by thiamine analogs and reduced by ethanol administration and aging. The transport involves a saturable mechanism at low concentrations of vitamin and simple diffusion at higher. Outwardly oriented H+ gradients enhance thiamine transport, whose saturable component is a Na+-independent electroneutral uphill process utilizing energy supplied by the H+ gradient, and involving a thiamine/ H+ 1:1 stoichiometric exchange. The exit of thiamine from the enterocyte, as evaluated in basolateral membrane vesicles, is Na+-dependent, directly coupled to ATP hydrolysis by Na+-K+-ATPase, and inhibited by thiamine analogs. Transport of thiamine by renal brush border membrane vesicles is similar to the intestinal as far as both H+ gradient influence and specificity are concerned. In the erythrocyte thiamine transport is a Na+-independent, electroneutral process yet with two components: saturable, prevailing at low thiamine concentrations, and diffusive at higher. The saturable (specific) component is missing in patients of the rare disease known as thiamine-responsive megaloblastic anaemia (TRMA), producing a general disturbance of thiamine transport up to thiamine deficiency. The TRMA gene is located in chromosome 1q23.3. Recently, the thiamine transporter has been cloned: it is a protein of 497 amino acid residues with high homology with the reduced-folate transporter.
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PMID:Thiamine intestinal transport and related issues: recent aspects. 1096 59


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