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

Cushing's syndrome caused by adrenocorticotropic hormone (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) is an extremely rare disease, which shows bilateral macronodular adrenal hypertrophy and autonomous cortisol production. We herein report a case of AIMAH treated successfully by minimally invasive simultaneous bilateral laparoscopic adrenalectomy. A 73-year-old woman with hypertension, diabetes mellitus, and osteoporosis was referred to our hospital because of an incidentally found huge bilateral adrenal mass. An abdominal computed tomography scan showed large bilateral adrenal glands with multiple nodules. A diagnosis of AIMAH was made and a simultaneous bilateral laparoscopic adrenalectomy was thus performed. The total operation time was 310 min and blood loss was 70 g. Both glands were hypertrophic (right 5 x 3 cm, 48.5 g and left 4 x 2 cm, 39.2 g) and consisted of multiple golden yellow macronodules. The postoperative course was uneventful. A simultaneous bilateral adrenalectomy for AIMAH performed by an experienced surgical team is therefore considered to be a safe and minimally invasive procedure.
 ...
PMID:Simultaneous bilateral laparoscopic adrenalectomy for adrenocorticotropic hormone-independent macronodular adrenal hyerplasia: report of a case. 1679 2

Congenital central hypothyroidism (CCH) is a rare disease which can be caused by mutations in the gene for the thyrotropin (TSH) beta subunit ( TSHB). The diagnosis is usually delayed because the TSH serum levels in these patients are not elevated leading to a negative result in the neonatal TSH screening. Herein, we report a 2-year-old girl with CCH due to a mutation in the TSHB gene, in whom the unusual finding of an initially elevated TSH level complicated the diagnostic workup. The proposita, who had a supposedly normal TSH screening result, is a German girl of non-consanguineous parents. At 5 weeks of age, her thyroid function tests showed peripheral hypothyroidism with a moderately increased TSH (23.8 microIU/ml) so that thyroid hormone substitution was initiated. At the age of 2 years, the administration of TRH failed to increase the TSH serum concentrations, which prompted TSH measurements with two different assay systems. Variable TSH levels ranging from not detectable low to elevated were found so that central hypothyroidism due to a mutation in the TSHB gene was suspected. This was confirmed by molecular analysis of the TSHB gene, which identified a homozygous deletion (delta 313 T) in the coding sequence. This mutation has been found in the German population before and may be a founder mutation. We conclude that depending on the assay system variable TSH serum levels in individuals with mutations in the TSHB gene may complicate the diagnostic workup.
Exp Clin Endocrinol Diabetes 2006 May
PMID:Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature. 1680 96

Primary systemic amyloidosis is a rare disease with protean manifestations. Presence of nephrotic syndrome in the absence of diabetes and hypertension, cardiomyopathy in the absence of ischemia, restrictive cardiac defect, demyelinating polyneuropathy, or unexplained hepatomegaly should alert the physician to the possibility of amyloidosis. Initial steps in the diagnostic evaluation of patients with suspected amyloidosis include serum and urine immunoelectrophoresis and immunofixation studies. Demonstration of amyloid material on tissue biopsy (e.g., subcutaneous fat) is required for diagnosis. Availability of effective treatments has improved the outlook of patients with primary systemic amyloidosis. Early diagnosis is critical to optimizing the chances of effective therapy.
 ...
PMID:Primary systemic amyloidosis. Early diagnosis and therapy can improve survival rates and quality of life. 1691 52

Emphysematous cystitis is a rare disease characterized by primary infection of the urinary bladder with gas-producing pathogens. There is a paucity of information on this entity in the English-language literature covering the last 45 years, and the clinical picture is poorly outlined. We carried out a comprehensive, retrospective review of the English-language literature from 1986 to 2006, searching for reports describing cases of emphysematous cystitis. The demographic, clinical, laboratory, imaging, and outcome characteristics of every eligible patient were excerpted. In the present report, we describe a typical case of emphysematous cystitis, followed by an analysis of the literature. Of the 53 eligible cases, most were elderly women with diabetes mellitus (62.2%). Classic symptoms of urinary tract infection were present in only 53.3% of cases. Abdominal tenderness and hematuria were noted in 65.6% and 82.3% of cases, respectively. Plain abdominal X-ray was highly sensitive (97.4%), while abdominal computerized tomography was the most sensitive and specific diagnostic tool. A complicated course attributable to emphysematous cystitis was described in 18.8% of cases. The exact mechanism contributing to the formation of gas in such cases is unknown. Various theories have been suggested, including fermentation of glucose in urine, with emphasis on disequilibrium between gas formation and clearance. Emphysematous cystitis has a highly variable presentation and course, with a considerable potential for complications. Further diagnostic imaging is highly recommended in diabetic patients with urinary tract infection who present with abdominal pain and hematuria. Knowledge of this rare entity may lead to early diagnosis and appropriate management.
 ...
PMID:Emphysematous cystitis: illustrative case report and review of the literature. 1722 Jul 55

Nattrassia mangiferae orbital infection is a very rare disease that is usually curable. We report the first case of a fatal N. mangiferae orbital infection following a thorn penetration injury in a patient who also had diabetes mellitus, heart failure, and cirrhosis.
 ...
PMID:Post-traumatic fatal Nattrassia mangiferae orbital infection. 1731 25

Malakoplakia, from the Greek term meaning "soft plaque," is a rare granulomatous disease first documented by Michaelis and Gutmann in 1902, and is most commonly found in association with systemic diseases such as systemic lupus erythematosus, tuberculosis, diabetes mellitus, sarcoidosis or neoplasm. We present a case report of malakoplakia in a 55-year-old female patient who had undergone an orthotopic cardiac transplant for ischemic cardiomyopathy. She was found to have an irregular rectal mass, after presenting with a complaint of hematochezia and pressure with defecation as well as a "boil" on her right labia. Malakoplakia is an exceedingly rare disease entity, and this is only the third known report of this condition in a patient after cardiac transplantation. We review the current perspectives on the pathophysiology, diagnosis and treatment of this disease.
 ...
PMID:Rectal and cutaneous malakoplakia in an orthotopic cardiac transplant recipient. 1740 86

Necrotizing fascitis (NF) is a rare disease with a mortality rate ranging from 24 to 60 percent. The infection may be mono- or polymicrobial and is characterized by extensive necrosis of the skin and muscle, as well as fascia and subcutaneous tissue. NF may develop at the site of injury, e.g. trauma, needle puncture, or surgical incision. The lower extremities, perineum, and abdominal wall are common sites of NF. The remaining 10 percent of cases occur in the upper extremities or neck, usually in patients with vascular disease or diabetes mellitus. The course is rapidly progressive and may be life-threatening if the diagnosis is not made promptly and appropriate surgical debridement is not carried out. We report on a 44-year-old man with necrotizing fascitis during interferon-alpha treatment for hepatitis C virus infection.
 ...
PMID:[Necrotizing fasciitis in a patient during interferon-alpha treatment for hepatitis C virus infection: case report]. 1747 78

Lymphangioleiomyomatosis (LAM), a rare lung disease, is characterized by the progressive proliferation, migration, and differentiation of smooth muscle (SM)-like LAM cells, which lead to the cystic destruction of the lung parenchyma, obstruction of airways and lymphatics, and loss of pulmonary function. LAM is a disease predominantly affecting women and is exacerbated by pregnancy; only a lung transplant can save the life of a patient. It has been discovered that in LAM, somatic or genetic mutations of tumor suppressor genes tuberous sclerosis complex 1 (TSC1) or TSC2 occur and the TSC1/TSC2 protein complex functions as a negative regulator of the mTOR/S6K1 signaling pathway. These two pivotal observations paved the way for the first rapamycin clinical trial for LAM. The recent discoveries that TSC1/TSC2 complex functions as an integrator of signaling networks regulated by growth factors, insulin, nutrients, and energy heightened the interest regarding this rare disease because the elucidation of disease-relevant mechanisms of LAM will promote a better understanding of other metabolic diseases such as diabetes, cancer, and cardiovascular diseases. In this review, we will summarize the progress made in our understanding of TSC1/TSC2 cellular signaling and the molecular mechanisms of LAM; we will also highlight some of the lesser explored directions and challenges in LAM research.
 ...
PMID:Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. 1754 83

Renal failure is considered a rare disease. However, recent epidemiological surveys like the NHANES III survey in the USA have shown that mild and moderate renal insufficiency is much more common: 31% and 4% of Americans, respectively, are affected by a mild or moderate degree of renal insufficiency. Such an epidemic is of particular concern because of the high cardiovascular risk brought about by kidney failure. Renal insufficiency is now considered a public health priority. Together with diabetes and smoking, the metabolic syndrome is the principal factor responsible for this epidemic. The prevalence of chronic renal insufficiency is in fact strictly proportional to the number of components of the metabolic syndrome being present in individual patients. As renal function deteriorates, other risk factors come into play like those peculiar to renal insufficiency (anemia, hyperparathyroidism) and some so-called emerging risk factors (inflammation, hyperhomocysteinemia and high plasma levels of endogenous inhibitors of NO synthase such as asymmetric dimethylarginine).
 ...
PMID:[The chronic renal failure epidemic: an underestimated public health problem]. 1792 40

Cushing's syndrome (CS) is a complex of signs and symptoms due to chronic glucocorticoid excess from a variety of causes. Although CS is considered a rare disease, recent studies have suggested that it may be more frequent than previously expected in various clinical settings (i.e. subjects suffering from diabetes, osteoporosis or metabolic syndrome). If confirmed in large population-based studies, more widespread screening for CS may be warranted. Missed diagnosis of CS may have detrimental consequences because hypercortisolism, even if not clinically apparent, increases the probability of future cardiovascular events through induction/amplification of several risk factors (hypertension, central adiposity, thrombophilic state, etc.). Identifying CS has represented one of the most challenging problems for the clinical endocrinologist since no test is 100% sensitive and specific. This review article will be focus on diagnostic laboratory procedures that support a rationale approach in the screening evaluation and in the differential diagnosis of the endogenous CS. Notwithstanding the difficulties derived from laboratory reliability and the adoption of a hormonal cut-off close to the sensitivity of many commercially available assays, an increasing amount of data have provided novel information aimed to meet the demand of inexpensive, convenient and reliable laboratory procedures.
 ...
PMID:Laboratory differentiation of Cushing's syndrome. 1805 7


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>