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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Motivated by a Finnish case-control study of early onset diabetes in which diabetic children are matched to sibling controls, we investigate ascertainment bias of the usual rate ratio estimator from case-control data under simplex complete ascertainment of families during a fixed interval of time. Analytic results indicate that the assumptions necessary for valid estimation are that the disease is rare and the factors under study are exchangeable--essentially that the covariate distribution does not depend on calendar time or birth order. Further, we found that the rare disease assumption could be dropped by restricting to cases that were diagnosed during the enrollment period of the study or including all cases but eliminating the proband as a control for non-enrollment-period cases. An important consequence of this work is that standard family-based case-control studies are subject to ascertainment bias if exchangeability of the covariates under investigation does not hold.
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PMID:Ascertainment bias in rate ratio estimation from case-sibling control studies of variable age-at-onset diseases. 1131 58

Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.
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PMID:Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. 1134 41

Little is known on the epidemiology of Cushing's disease (CD) as relevant data on such a rare disease can only be obtained from large-scale studies. We addressed this topic analyzing the data obtained in the Italian multicenter study which comprised nearly 300 patients with CD. The number of newly diagnosed patients with CD increased markedly in the second decade of the study (from 7.4 +/- 0.71 pts/year prior to 1987 to 26.4 +/- 4.12 after 1987) probably reflecting the heightened awareness of the disease and the increased availability of diagnostic tools. Urinary free cortisol (UFC) levels were significantly higher in men than in women and were inversely correlated with the time interval between appearance of symptoms and diagnosis. Recognition of CD among patients presenting with common diseases such as obesity, diabetes and hypertension requires highly sensitive screening tests (e.g. UFC, midnight cortisol in saliva, overnight dexamethasone suppression test) which however may yield false positive results. In doubt, second line testing using dex-CRH or desmopressin may distinguish between CD and pseudo Cushing. The different prevalence of CD and ectopic ACTH secretion (ES) undermines the diagnostic accuracy of tests used for the differential diagnosis of ACTH-dependent Cushing's syndrome (i.e. CRH, high dose dexamethasone, IPSS). Tests aimed at identifying ES rather than CD are needed to overcome this bias. Transsphenoidal surgery was the preferred choice of treatment for patients with CD, resulting in remission in 70% operated patients with a 15% relapse rate over 10 years follow-up. Definition of remission after surgery and parametres predictive of relapse, however, vary according to studies and long-term follow-up is required to establish their validity. Most clinical manifestations of hypercortisolism disappeared after remission although some long-lasting effects on the cardiovascular system had been observed. Finally, according to recent reports, mortality rates for patients cured of CD appear comparable to those of the general population.
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PMID:Epidemiology and follow-up of Cushing's disease. 1135 89

Prostatic malacoplakia associated with prostatic abscess is an extremely rare disease. We present a case of prostatic malacoplakia presenting as a prostatic and seminal vesicle abscess in a patient with diabetes. The diagnosis and management are discussed, and the literature is reviewed.
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PMID:Prostatic malacoplakia associated with prostatic abscess: diagnosis and treatment. 1138 8

Benign Symmetric Lipomatosis (Madelung's disease) is a rare disease, characterized by massive fatty deposits in the neck, the shoulders, and the upper extremities. The deformity is associated with chronic alcohol use, malignant tumors of the upper airways, neuropathy, diabetes mellitus, hyperlipidemia, and other metabolic disorders. Although the deformity is prone to recurrence, surgical removal via lipectomy or liposuction provides the only way of palliation. This paper describes the treatment of a 51-year-old man with a history of alcoholism and liver cirrhosis. He reported masses in his cervical and facial regions that had gradually enlarged over a period of 6 years. He also developed respiratory symptoms due to the fatty compression of his upper airways. Our experience with ultrasound-assisted liposuction for the palliative treatment of this disease is reported.
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PMID:Ultrasound assisted liposuction for the palliative treatment of Madelung's disease: a case report. 1142 8

Transient neonatal diabetes mellitus (TNDM) is a rare disease believed to result from overexpression of a paternally expressed gene controlled by a differentially methylated CpG island on chromosome 6q24. Two genes partially overlap the island: the cell-cycle-control gene ZAC and the untranslated gene HYMAI, the function of which is currently unknown. Proof that either gene is involved in TNDM would require demonstration that imprinted expression is relaxed in TNDM patients; this has hitherto been lacking because of the rarity of the disease and the lack of imprinted expression in the lymphoblastoid cells that are generally the only resource available for study. Here, we show, for the first time, the aberrant expression of imprinted genes in a TNDM patient. In TNDM fibroblasts, the monoallelic expression of both ZAC and HYMAI is relaxed, providing strong supportive evidence that the presence of two unmethylated alleles of this locus is indeed associated with the inappropriate gene expression of neighbouring genes.
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PMID:Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. 1193 19

Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. Additional clinical features include metaphyseal dysostosis, epiphyseal dysplasia, immune dysfunction, liver disease, growth failure, renal tubular defects, insulin-dependent diabetes mellitus, and psychomotor retardation. Hematological manifestations other than neutropenia include anemia, raised fetal hemoglobin (HbF) levels, thrombocytopenia, impaired neutrophil chemotaxis, and aplastic anemia; as with other constitutional bone marrow failure syndromes, there is a predilection to malignant myeloid transformation. No unifying pathogenetic mechanism(s) has yet been shown to be responsible for SDS, although new insights into the molecular, genetic, and cellular basis of this rare disease have recently been described.
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PMID:Shwachman-Diamond syndrome. 1195 91

Necrotizing fasciitis is a rapidly progressive infection of the fascia and subcutaneous tissues accompanied by a high mortality rate approaching 80% to 100%. Factors that predispose patients to this life-threatening complication include obesity, malnutrition, malignancy, chronic alcoholism, drug abuse, peripheral vascular disease, diabetes mellitus, and immunosuppressive therapy. The pathomechanisms for the development of this rare disease still remain unclear. We report a case of necrotizing fasciitis with Clostridium perfringens after laparoscopic cholecystectomy. The patient left the hospital 5 months after admission. Early recognition based on clinical signs (pain, asymmetric abdominal thickening, crepitus) and computed tomography scanning (gas dissection along fascial planes), in conjunction with prompt, aggressive surgical therapy and debridement of all devitalized tissue, high-dose antibiotic therapy, and therapy at the intensive care unit, appears to afford patients the best chance of survival.
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PMID:Necrotizing fasciitis with Clostridium perfringens after laparoscopic cholecystectomy. 1197 28

Primary hyperaldosteronism (PHA) is regarded as a rare disease with prevalence rates of 0.5 to 2% within the hypertensive population. Recent studies using more detailed screening procedures in small hypertensive cohorts have suggested that PHA may be more common than previously thought (3-18%). Since a validated and cost-effective routine screening protocol for this entity is not established, many clinicians are reluctant to consider PHA as an underlying cause for a patient's high blood pressure. The insufficient perception of PHA may have fatal consequences since most patients are curable by an operation and missing the diagnosis often leads to significant and irreversible end-organ damage. This review focuses on the diagnosis of PHA and gives a rational and cost-effective flow chart for routine screening and differential diagnosis of PHA in hypertensive patients.
Exp Clin Endocrinol Diabetes 2002 Sep
PMID:Primary hyperaldosteronism. 1237 29

Francois Gigot de la Peyronie, surgeon to Louis XV of France, has become synonymous with the rather enigmatic though not uncommon condition of Peyronie's disease (PD), a localized connective tissue disorder of the penile tunica albuginea. The true prevalence of Peyronie's disease is unknown. Therefore, we decided to perform an evaluation of existing epidemiological data. A prevalence rate of 3.2% was determined in male inhabitants of the greater Cologne area. This is much higher than revealed by the data reported up to now, thus rendering the accepted prevalence rates of 0.3% to 1% untenable. The actual prevalence of Peyronie's disease may be even higher, considering many patients' reluctance to report this embarrassing condition to their physicians. Along these lines, most clinicians note that the number of Peyronie's patients has increased since the advent of oral sildenafil. Comparably high prevalences are known for diabetes and urolithiasis, suggesting a greater frequency of this rare disease than formerly believed.
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PMID:Epidemiology of Peyronie's disease. 1245 89


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