Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011860 (type 2 diabetes)
 57,723 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of the study was to investigate, whether the degree of metabolic risk factors for atherosclerotic complications in a very rare kind of obesity, the Multiple Symmetrical Lipomatosis, also known as the Launois-Bensaude Syndrome (LBS), are comparable or different from "simple" truncal obesity. 10 patients with LBS (Body mass index 34.4 +/- 1.8 kg/m(2), age: 62 +/- 3 yrs) were compared with 19 BMI - matched patients with "simple" truncal obesity and obstructive sleep apnoea syndrome (OSAS) and 20 BMI- matched patients with "simple" truncal obesity without OSAS. Markers of subclinical inflammation and thrombocyte activation (sCD62p = soluble p-selectin, highly sensitive C-Reactive protein = CRP, Interleukin-6 = IL-6, ICAM-1 = Intracellular Adhesion Molecule-1, Vascular Cell Adhesion Molecule = VCAM -1, leptin), as well as adiponectin and resistin were studied. The prevalence of atherogenic risk factors as hypertension (80%), type 2 diabetes (30%), OSAS (50%), smoking (30%) and alcohol abuse (80%) was high in the (obese) LBS group. The markers of subclinical inflammation and thrombocyte activation showed an indifferent picture with lower levels of circulating IL-6 and sCD62p, comparable CRP and higher ICAM-1 and VCAM-1 than in controls. Leptin and adiponectin were higher than in controls. However, the accumulation of "classic" cardiovascular risk factors in the LBS group was well reflected by the presence of symptomatic cardiovascular disease in 3 of the 10 LBS patients, putting LBS patients - if obese - at an atherosclerotic risk at least comparable to obese persons.
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PMID:Adiponectin, resistin and subclinical inflammation--the metabolic burden in Launois Bensaude Syndrome, a rare form of obesity. 1744 28

Spinal epidural lipomatosis (SEL) is a rare condition characterized by abnormal deposits of fat in the epidural space. In a severe form this may cause compression of neural elements. This is the second report of SEL secondary to a carcinoid tumour. Our patient was a 34-year-old Caucasian male farm worker presenting with acute spinal cord compression. He had gained 11kg, and had developed Type II diabetes mellitus in the preceding 12months. On examination he displayed characteristic features of Cushing's syndrome. MRI demonstrated posterior epidural lipomatosis, with cord compression from T3 to T8. Urgent spinal cord decompression was performed. Further investigation confirmed a biochemical Cushing's syndrome secondary to an ACTH-producing pulmonary carcinoid tumour.
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PMID:Spinal epidural lipomatosis due to a bronchial ACTH-secreting carcinoid tumour. 2070 55

The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders.
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PMID:How to diagnose a lipodystrophy syndrome. 2274 2

Pancreatic fat accumulation has been described with various terms including pancreatic lipomatosis, pancreatic steatosis, fatty replacement, fatty infiltration, fatty pancreas, lipomatous pseudohypertrophy and nonalcoholic fatty pancreas disease. It has been reported to be associated with type 2 diabetes mellitus, acute pancreatitis, pancreatic cancer and the formation of pancreatic fistula. The real incidence of this condition is still unknown. We report a case of pancreatic steatosis in a non-obese female patient initially diagnosed with a mass in the head of the pancreas. Magnetic resonance imaging (MRI) was carried out to define the characteristics of the pancreatic mass. MRI confirmed the diagnosis of fat pancreas. Enlarged pancreas is not always a cancer, but pancreatic steatosis is characterized by pancreatic enlargement. MRI could give a definite diagnosis of pancreatic steatosis or cancer.
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PMID:Enlarged pancreas: not always a cancer. 2565 99

Cushing syndrome is a disorder that occurs when the body is exposed to a higher than normal level of the hormone cortisol. It is most commonly caused by exogenous glucocorticoids, and less commonly due to endogenous sources. Ectopic adrenocorticotropic hormone (ACTH) syndrome is one of the rare causes of endogenous Cushing syndrome engendered by oversecretion of ACTH from a tumor outside of the pituitary or adrenal glands. We present a case of a 74-year-old male with uncontrolled type 2 diabetes mellitus who was suspected of having Cushing syndrome on chest CT due to increasing mediastinal lipomatosis and enlarging bilateral adrenal glands. Cushing syndrome was confirmed based on clinical features and biochemical tests. Further investigation revealed an ACTH-producing functional neuroendocrine tumor of the pancreas causing ectopic Cushing syndrome.
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PMID:Ectopic Cushing syndrome caused by a pancreatic neuroendocrine tumor: A case report. 3254 69

Introduction Islet amyloid polypeptide (IAPP) amyloidosis is a pathologic alteration of the pancreas, represented by abnormal accumulation of amylin in the interstitial tissue. Amylin is a neuroendocrine hormone, co-secreted with insulin by beta cells and participating in downstream regulation of postprandial glycemia. This report aims to examine IAPP amyloidosis as a late consequence of poor control of blood glucose levels in patients with type 2 diabetes mellitus (T2DM) who have been referred for autopsy. Materials and methods A total of 34 consecutive autopsies performed at the St. Marina University Hospital, Varna, Bulgaria, carried out by a single pathologist were included in the study. Samples from the tail of the pancreas were obtained to evaluate the state of the changes and were analyzed together with the specific organ changes associated with T2DM, as well as the medical documentation of the patients. Results Of the 34 autopsies, 10 cases (six females and four males) were included in the study, seven of whom had a medical history of T2D. The average age was 65.7 years (range 50 to 85 years). In all of the cases, morphological features of fibrosis and lipomatosis were present, with one of the patients having signs of pancreatic amyloidosis - Congo red positive deposition of pink, amorphous material in the extracellular matrix. Conclusion The described pathological alterations in all of the cases illustrate the progressing impairment of the structure of the pancreas, especially beta cells dysfunction in late stages of T2D, and highlight IAPP amyloidosis as the cause of irreversible damage of the isles of Langerhans and beta cell death.
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PMID:Late Pathomorphological Features of the Endocrine Pancreas in Patients With Type 2 Diabetes Mellitus. 3272 29