Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0028754 (
obesity
)
124,988
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Obesity
is closely associated with the Metabolic Syndrome, which includes insulin resistance, glucose intolerance, dyslipidemia and hypertension. The best predictor of these morbidities is not the total body fat mass but the quantity of visceral (e.g. omental, mesenteric) fat. Glucocorticoids play a pivotal role in regulating fat metabolism, function and distribution. Indeed, patients with Cushing-s syndrome (a
rare disease
characterized by systemic glucocorticoid excess originating from the adrenal or pituitary tumors) or receiving glucocorticoid therapy develop reversible visceral fat
obesity
. The role of glucocorticoids in prevalent forms of human
obesity
, however, has remained obscure, because circulating glucocorticoid concentrations are not elevated in the majority of obese subjects. Glucocorticoid action on target tissue depends not only on circulating levels but also on intracellular concentration. Locally enhanced action of gluccorticoids in adipose tissue and skeletal muscle has been demonstrated in the Metabolic Syndrome. Evidence has accumulated that enzyme activity of 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), which regenerates active glucocorticoids from inactive forms and plays a central role in regulating intracellular glucocorticoid concentration, is commonly elevated in fat depots from obese individuals. This suggests a role for local glucocorticoid reactivation in
obesity
and the Metabolic Syndrome. 11beta-HSD1 knockout mice resist visceral fat accumulation and insulin resistance even on a high-fat diet. Furthermore, fat-specific 11beta-HSD1 transgenic mice, those have increased enzyme activity to a similar extent seen in obese humans, develop visceral
obesity
with insulin and leptin resistance, dyslipidemia and hypertension. In adipocytes, both antidiabetic PPARgamma agonists and LXRalpha agonists significantly reduce 11beta-HSD1 mRNA and enzyme activity, suggesting that suppression of 11beta-HSD1 in adipose tissue may be one of the mechanisms by which these drugs exert beneficial metabolic effects. Recently reported selective inhibitors of 11beta-HSD1 can ameliorate severe hyperglycemia in the genetically diabetic obese mice. In summary, 11beta-HSD1 is a promising pharmaceutical target for the treatment of the Metabolic Syndrome.
...
PMID:Tissue-specific glucocorticoid reactivating enzyme, 11 beta-hydroxysteroid dehydrogenase type 1 (11 beta-HSD1)--a promising drug target for the treatment of metabolic syndrome. 1468 56
Breast cancer in men is a
rare disease
, accounting for approximately 1% of all breast cancer cases. Although the epidemiologic literature regarding female breast cancer is extensive, relatively little is known about the etiology of male breast cancer (MBC). This review is intended to summarize the existing body of evidence on genetic and epidemiologic risk factors for breast cancer in men. Overall, the epidemiology of MBC presents similarities with the epidemiology of female breast cancer. Major genetic factors associated with an increased risk of breast cancer for men include BRCA2 mutations, which are believed to account for the majority of inherited breast cancer in men, Klinefelter syndrome, and a positive family history. Suspected genetic factors include AR gene mutations, CYP17 polymorphism, Cowden syndrome, and CHEK2. Epidemiologic risk factors for MBC include disorders relating to hormonal imbalances, such as
obesity
, testicular disorders (e.g., cryptorchidism, mumps orchitis, and orchiectomy), and radiation exposure. Suspected epidemiologic risk factors include prostate cancer,prostate cancer treatment, gynecomastia, occupational exposures (e.g., electromagnetic fields, polycyclic aromatic hydrocarbons, and high temperatures), dietary factors (e.g., meat intake and fruit and vegetable consumption), and alcohol intake.
...
PMID:Epidemiology of male breast cancer. 1566 71
Occurrence of male breast cancer, a
rare disease
, peaks at age 71 years. Familial cases usually have BRCA2 rather than BRCA1 mutations. Occupational risks include high temperature environments and exhaust fumes, but electromagnetic fields have not been implicated. Hyperoestrogenisation resulting from Klinefelter's, gonadal dysfunction,
obesity
, or excess alcohol, all increase risk as does exposure to radiation, whereas gynaecomastia does not. Presentation is usually a lump or nipple inversion, but is often late, with more than 40% of individuals having stage III or IV disease. Most tumours are ductal and 10% are ductal carcinoma in situ. Surgery is usually mastectomy with axillary clearance or sentinel node biopsy. Indications for radiotherapy, by stage, are similar to female breast cancer. Because 90% of tumours are oestrogen-receptor-positive, tamoxifen is standard adjuvant therapy, but some individuals could also benefit from chemotherapy. Hormonal therapy is the main treatment for metastatic disease, but chemotherapy can also provide palliation. National initiatives are increasingly needed to improve information and support for male breast cancer patients.
...
PMID:Male breast cancer. 1648 3
Idiopathic intracranial hypertension (IIH) is the syndrome of raised intracranial pressure without clinical, laboratory or radiological evidence of intracranial pathology. IIH is a relatively
rare disease
but rapidly increasing incidence is reported due to a global increasing incidence of
obesity
. Disease course is generally said to be self-limiting within a few months. However, some patients experience a disabling condition of chronic severe headache and visual disturbances for years that limit their capacity to work. Permanent visual defects are serious and not infrequent complications. The pathophysiology of IIH is still not fully understood. Advances in neuroimaging techniques have facilitated the exclusion of associated conditions that may mimic IIH. No causal treatment is yet known for IIH and existing treatment is symptomatic and rarely sufficient. The aim of this review is to provide an updated overview of this potentially disabling disease which may show a future escalating incidence due to
obesity
. Theories of pathogenesis, diagnostic criteria and treatment strategies are discussed.
...
PMID:What is new about idiopathic intracranial hypertension? An updated review of mechanism and treatment. 1655 39
In patients with craniopharyngioma, pituitary failure and often lifelong hormone replacement therapy, persisting ophthalmological problems with impaired vision, cranial nerve palsies, and psychoneurological deficits will lead to a persisting impairment in quality of life and social competence. Some patients completely depend on assistance. To prevent this, a major goal is an early diagnosis and limitation of operative radicality to minimize postoperative complications. Surgery in centers with special expertise is mandatory. Radiotherapeutical strategies are relatively safe and improve the outcome and recurrence-free survival after incomplete surgical resection or after local recurrence. Multidisciplinary concepts and prospective data acquisition are desirable with regard to therapy and outcome in patients with craniopharyngioma. Problems in the follow-up period are the development of atherosclerotic complications and metabolic syndrome as a consequence of occasionally excessive
obesity
, which may impair the long-term survival of the patients. Cause and progression of these complications are not fully understood, therapeutical strategies for the morbid obesity are not available. Only interdisciplinary co-operation will help to develop and evaluate therapeutical concepts for the management of this
rare disease
.
...
PMID:[CranioNet -- an interdisciplinary strategy for craniopharyngioma]. 1660 3
Andersen syndrome (AS) is a
rare disease
characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had
obesity
, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.
...
PMID:Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. 1711 96
Epidural lipomatosis has been implicated as a cause or contributor of symptomatic lumbar spinal stenosis. Symptomatic spinal epidural lipomatosis (SEL) of the lumbar spine is a
rare disease
, often associated with steroid overload. Idiopathic lipomatosis is even much less frequent. Signs and symptoms depend upon the level and degree of nerve root compression. Diagnosis is best based on MRI. Weight reduction can be curative, however, after failure of medical treatment or in severe cases surgical decompression should be performed. A 70-year-old man with both lower limb severe paresthesia and radicular symptoms unrelieved with conservative treatments such as medications and physical therapy was treated by surgical decompression.
Obesity
, endocrinopathic disease, and chronic steroid therapy were excluded. Interlaminar fenestration, lateral recess decompression and fat debulking were applied at all levels through the L2-S1. After surgery there was a gradual improvement in symptoms. We report a rare case of idiopathic SEL which has shown entire evolvement of lumbar spine with specific increase of radiological and clinical severity from L2-3 to L5-S1 in a non-obese patient.
...
PMID:Decompression of idiopathic symptomatic epidural lipomatosis of the lumbar spine. 1768 57
Male breast cancer is a
rare disease
and the incidence has increased over the past 25 years. Current knowledge regarding its biology, natural history, and treatment strategies is mainly based on the research findings on female breast cancer. Genetic risk factors include BRCA2 mutations. Occupational risk factors include high temperature environments and exhaust fumes. Hormonal imbalances, such as gonadal dysfunction,
obesity
, and radiation exposure also contribute to the occurrence of male breast cancer. It may be indolent or progress slowly, or invade rapidly. Most cases are ductal tumors and 10% of the cases are ductal carcinoma in situ. The surgical operation is usually mastectomy with axillary clearance or sentinel node biopsy. Indications for radiotherapy, as well as the steps and methods, are similar to that for female breast cancer. Because 90% of the patients are estrogen receptor-positive, tamoxifen is a standard adjuvant therapy, but some individuals could also benefit from chemotherapy. In this article, the latest information on the epidemiology, biology, and treatment of male breast cancer is reviewed.
...
PMID:[Clinical research advancement on male breast cancer]. 1792 90
Idiopathic nodular glomerulosclerosis is an enigmatic condition closely resembling diabetic nodular glomerulosclerosis without evidence of diabetic mellitus or other specific disease. Idiopathic nodular glomerulosclerosis remains a
rare disease
entity with an unclear pathogenesis. Clinicopathologic features of 15 patients with idiopathic nodular glomerulosclerosis were evaluated in a retrospective review of renal biopsies between 1998 and 2007. Our study cohort consisted predominantly of older (mean age, 64.2 years) white (73%) women (67%). Fourteen patients (93%) had a history of hypertension, and 10 (67%) were active smokers at the time of biopsy. Nine patients (60%) were obese (body mass index, >30 kg/m(2)) and 4 (27%) were overweight (body mass index, 25-29.9 kg/m(2)). Fourteen patients (93%) presented with renal insufficiency with mean serum creatinine level of 2.8 mg/dL. All 15 patients presented with proteinuria (mean urinary protein excretion, 5.6 g/24 h). Eleven patients (73%) presented with nephrotic-range proteinuria and 8 (53%) with nephrotic syndrome. Histopathologic findings showed nodular glomerulosclerosis (100%), moderate to severe arterio-arteriolosclerosis (100%), and glomerular basement membrane thickening (100%). Immunofluorescence and electron microscopy studies had no other specific findings. Our results confirm previous studies of a close association of hypertension and smoking with idiopathic nodular glomerulosclerosis. A significantly higher incidence of
obesity
and overweight in patients with idiopathic nodular glomerulosclerosis suggests that increased body mass index may also contribute to the development and progression of idiopathic nodular glomerulosclerosis.
...
PMID:Idiopathic nodular glomerulosclerosis: a clinicopathologic study of 15 cases. 1870 Nov 35
Pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy or Albright syndrome) is a
rare disease
, caused by the resistance to the action of the parathyroid hormone in target tissues, such as the bone, kidney, and intestine, with consequent hypocalcemia and hyperphosphatemia and increased levels of parathyroid hormone. The phenotype of Albright syndrome includes 5 common features: brachydactyly,
obesity
, short stature, a round face, and mental retardation. We report on a child with a classic form of pseudohypoparathyroidism and associated Albright syndrome who developed Evans syndrome (ie, the cooccurrence of severe autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). To our knowledge, no cases of Evans syndrome have been observed associated with pseudohypoparathyroidism 1a.
...
PMID:Pseudohypoparathyroidism Ia with Evans syndrome. 1879 44
<< Previous
1
2
3
4
5
6
Next >>