Uncommon Disease (uncommon + disease)

Distribution by Scientific Domains

Selected Abstracts

Multiple myeloma: A review of the epidemiologic literature

Dominik D. Alexander
Abstract Multiple myeloma, a neoplasm of plasma cells, accounts for ,,15% of lymphatohematopoietic cancers (LHC) and 2% of all cancers in the US. Incidence rates increase with age, particularly after age 40, and are higher in men, particularly African American men. The etiology is unknown with no established lifestyle, occupational or environmental risk factors. Although several factors have been implicated as potentially etiologic, findings are inconsistent. We reviewed epidemiologic studies that evaluated lifestyle, dietary, occupational and environmental factors; immune function, family history and genetic factors; and the hypothesized precursor, monoclonal gammopathies of undetermined significance (MGUS). Because multiple myeloma is an uncommon disease, etiologic assessments can be difficult because of small numbers of cases in occupational cohort studies, and few subjects reporting exposure to specific agents in case,control studies. Elevated risks have been reported consistently among persons with a positive family history of LHC. A few studies have reported a relationship between obesity and multiple myeloma, and this may be a promising area of research. Factors underlying higher incidence rates of multiple myeloma in African Americans are not understood. The progression from MGUS to multiple myeloma has been reported in several studies; however, there are no established risk factors for MGUS. To improve our understanding of the causes of multiple myeloma, future research efforts should seek the causes of MGUS. More research is also needed on the genetic factors of multiple myeloma, given the strong familial clustering of the disease. © 2007 Wiley-Liss, Inc. [source]

Possible coexistence of SLE and sarcoidosis in a Chinese female patient

K. K. Lee
Abstract Systemic lupus erythematosus (SLE) and sarcoidosis, both being multisystem disorders, share some common clinical features. However, while SLE is not an uncommon disease in the Chinese population, sarcoidosis is distinctly rare in the Chinese. We report a Chinese female patient whose presenting features tend to suggest a lupus-like illness. However, eventually, the diagnosis of sarcoidosis was documented, based on the histological findings of her lymph node biopsy. The possible coexistence of SLE and sarcoidosis is discussed. [source]

Infantile botulism: Clinical and laboratory observations of a rare neuroparalytic disease

E Urdaneta-Carruyo
Abstract: A 3-month-old male infant was admitted to the University Hospital of Los Andes with a history of constipation, weak crying, poor feeding, flaccidity and later bilateral ptosis and hyporeflexia. The admission diagnosis was septicaemia until an electrophysiological study reported postetanic facilitation with 50 Hz/seg stimulations four days later. The Clostridium botulinum toxin type B was isolated from the infant's stool samples and the organism grew in anaerobic cultures. The patient recovered completely and was discharged 2 months later. Although infant botulism is an uncommon disease in our environment, this diagnosis must be suspected in all afebrile infants with constipation, affected cranial nerves and generalized hypotonia. The principal differential diagnoses are Landry-Guillain,Barré syndrome, poliomyelitis, myasthenia gravis and infant muscular atrophy. [source]

Epidural blood patch for treatment of spontaneous intracranial hypotension

N. Waguri
Spontaneous intracranial hypotension is an uncommon disease caused by cerebrospinal fluid leakage. We reported a case of a 42-year-old male with postural headache who was diagnosed as having spontaneous intracranial hypotension. His headache did not completely improve by conservative therapies, so he underwent an autologous epidural blood patch. The site of cerebrospinal fluid restoration was identified at the level from the C2 to Th7 epidural space by 111In-DPTA cisternography and computed tomography coupled with myelography, and cervical EBP was performed. Because cerebrospinal fluid drops from the catheter, it is useful to identify the location of the catheter tip under contrast injection X-ray. Rapid and dramatic relief from the headache was obtained, and no serious complications occurred. [source]

Intracystic Papillary Carcinoma of the Breast in a Male Patient Diagnosed by Ultrasound-Guided Core Biopsy: A Case Report

Anna Pacelli MD
Male breast cancer is an uncommon disease with an incidence of approximately 1% of all breast cancers. We report a case of intracystic papillary carcinoma of the breast occurring in a 67-year-old man in whom the diagnosis was made by ultrasound-guided core biopsy. This report represents the first reported intracystic papillary carcinoma diagnosed by core biopsy and illustrates the cost-effectiveness of this technique in a male patient in providing diagnostic material and allowing for expeditious planning of definitive treatment. [source]

Bilateral Orbital Metastases as the Presenting Finding in a Male Patient with Breast Cancer: A Case Report and Review of the Literature

Michael Stuntz MD
Abstract: Breast cancer in men has traditionally been thought to be substantially different from that in women. As more becomes known about this relatively rare entity, the similarities between genders become more striking than the differences. Carcinoma of the male breast is an uncommon disease occurring in less than 1% of all breast cancers. Male breast carcinoma is staged similarly to female breast cancer using the American Joint Committee Clinical Staging System. As in women, axillary nodal status is the strongest predictor of outcome. Distant metastasis to bones, soft tissue, lungs, and liver have been widely reported in men with breast cancer. This case report provides a rather rare presentation of a man with breast carcinoma with bilateral orbital metastasis as an initial clinical presentation. [source]

Breast carcinoma in men

CANCER, Issue 1 2004
A population-based study
Abstract BACKGROUND Male breast carcinoma is an uncommon disease, and most previous studies have been single-institution series that were limited by extremely small sample sizes. The goals of the current study were to fill in the major gaps in knowledge regarding the incidence, presenting characteristics, prognostic factors, and survival rates of male breast carcinoma and to determine how breast carcinoma differs between men and women. METHODS Data from the National Cancer Institute Surveillance, Epidemiology, and End Results 1973,1998 database were used. Age-adjusted incidence rates were calculated. Characteristics of the patients and presenting tumors were compared between men and women. Univariate and multivariate analyses were performed to determine the effect of each variable on overall survival. Survival rates by disease stage were compared for men and women. RESULTS Over the years of the study, the incidence of male breast carcinoma increased significantly from 0.86 to 1.08 per 100,000 population (P < 0.001). Men had a higher median age at diagnosis (P < 0.001) and were more likely to have lymph node involvement (P < 0.001), a more advanced stage at diagnosis (P < 0.001), and tumors that were positive for estrogen receptor (ER) (P < 0.001) and progesterone receptor (PR) (P < 0.001). In multivariate analysis, larger tumor size and lymph node involvement were associated with shortened survival. Tumor grade and ER/PR status did not appear to independently influence survival. Relative survival rates by stage of disease for men and women were similar. CONCLUSIONS Although it remains a rare disease, the incidence of male breast carcinoma is increasing. Breast carcinoma in men has some epidemiologic and biologic differences from breast carcinoma in women. Cancer 2004. © 2004 American Cancer Society. [source]

Coronary artery aneurysms and coronary artery fistula as a cause of angina pectoris

Dimitris P. Papadopoulos
Abstract Coronary artery aneurysm is an uncommon disease. Coronary artery fistulae are infrequent congenital anomalies. A extremely rare case report of combination of coronary artery aneurysms and coronary artery fistula is presented with a brief literature review. Clin. Anat. 18:77,78, 2005. © 2004 Wiley-Liss, Inc. [source]

Advances in the genetics of sarcoidosis

G Smith
Sarcoidosis is an uncommon disease of granulomatous inflammation. Genetic predisposition to sarcoidosis is indicated by observations of familial clustering, increased concordance in monozygotic twins over other siblings, and variations in susceptibility and disease presentation among different ethnic groups. Published studies on sarcoidosis have investigated a variety of genetic associations. These studies used techniques ranging from classic human lymphocyte antigen genotype correlations to genome-wide linkage scans. Results have both supported and refuted disease associations with a number of genes potentially involved in the pathogenesis of sarcoidosis. Here, we review representative studies concerning the genetics of sarcoidosis. While investigations to date have failed to identify a unifying genetic signature associated with sarcoidosis, numerous studies have identified genetic associations with disease subtypes or within specific populations. These studies suggest that genetic susceptibility to sarcoidosis is complex and polygenic in nature. Future studies will help clarify the genetics of sarcoidosis and allow for the development of diagnostic, prognostic and therapeutic technologies. [source]

Fatty acid status in captive and free-ranging black rhinoceroses (Diceros bicornis)*

M. Clauss
Summary The fatty acid (FA) patterns of plasma/serum triglycerides (TG), phospholipids (PL) and cholesteryl esters (CE) of captive and free-ranging black rhinoceroses (Diceros bicornis) were investigated. Free-ranging animals (n = 28) stemmed from four different regions. Captive animals sampled included specimens from North American (n = 11) and three different European facilities (n = 6). The European animals were tested on 1,4 different diets, resulting in a total of 15 blood samples. Regardless of differences between the free-ranging animals from different regions, differences between captive and free-ranging animals were relatively uniform: captive animals had higher overall proportions of polyunsaturated fatty acid (PUFA), due to levels of linoleic acid (LA, 18:2n6) that were drastically increased as compared to free-ranging animals. In contrast, levels of alpha-linolenic acid (ALA, 18:3n3) were consistently lower on conventional zoo diets. n6/n3 ratios for TG, PL and CE were 1.6, 10 and 8 in samples from free-ranging animals, respectively, as compared to 4.1,16.3, 16,148 and 40,277 in samples from captive animals. There was a distinct correlation between the proportion of grain-based products (commercial concentrates, plain grains and bread) in the diets of the European animals and the measured levels of n6 PUFA. An animal from a facility with a very low proportion of grain products in the diet nevertheless had high LA readings, most probably due to the use of sunflower oil as 2% (dry matter basis) of its diet. One animal that received a high proportion of grass meal pellets due to an oral disease had increased ALA contents after the diet change. These results allow conclusions on the suitability of diets fed in captivity: the black rhinoceros is prone to several uncommon diseases that have been suspected to be linked to oxidative damage, possibly due to the disposition of this species to excessive iron storage. An unnatural dietary loading with PUFAs would exacerbate this problem. Additionally, n6 FAs are known as precursors of pro-inflammatory mediators, and their overrepresentation could therefore exacerbate any inflammatory processes. Therefore, the current practice of using grain-based feeds as major ingredients in captive rhinoceros diets is discouraged. Diet items containing ALA (a precursor of anti-inflammatory mediators) such as, fresh grass, fresh browse, the respective silages should be included at higher levels in diets for captive black rhinoceroses. Grass meal pellets, although a good source of ALA and linked with high levels of ALA in an animal of this study, must be chosen with care for black rhinoceroses due to their particular proneness for high iron contents. [source]