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1.  Acute myeloid leukaemia presenting as faecal incontinence 
Epidural sacral nerve compression as an initial feature of leukaemia is a rare complication. The findings in a 16‐year‐old boy who presented to an emergency department with symptoms of faecal incontinence are reported herein. Radiological imaging demonstrated soft‐tissue masses in the sacral epidural space. The diagnosis of acute myeloid leukaemia was confirmed on bone marrow aspirate. The characteristics and management of extramedullary leukaemia are discussed.
doi:10.1136/emj.2007.046086
PMCID: PMC2658514  PMID: 17452690
2.  Dscam diversity is essential for neuronal wiring and self-recognition 
Nature  2007;449(7159):223-227.
Neurons are thought to use diverse families of cell-surface molecules for cell recognition during circuit assembly. In Drosophila, alternative splicing of the Down syndrome cell adhesion molecule (Dscam) gene potentially generates 38,016 closely related trans-membrane proteins of the immunoglobulin superfamily, each comprising one of 19,008 alternative ectodomains linked to one of two alternative transmembrane segments1. These ectodomains show isoform-specific homophilic binding, leading to speculation that Dscam proteins mediate cell recognition2. Genetic studies have established that Dscam is required for neural circuit assembly1,3-10, but the extent to which isoform diversity contributes to this process is not known. Here we provide conclusive evidence that Dscam diversity is essential for circuit assembly. Using homologous recombination, we reduced the entire repertoire of Dscam ectodo-mains to just a single isoform. Neural circuits in these mutants are severely disorganized. Furthermore, we show that it is crucial for neighbouring neurons to express distinct isoforms, but that the specific identity of the isoforms expressed in an individual neuron is unimportant. We conclude that Dscam diversity provides each neuron with a unique identity by which it can distinguish its own processes from those of other neurons, and that this self-recognition is essential for wiring the Drosophila brain.
doi:10.1038/nature06099
PMCID: PMC2691715  PMID: 17851526
3.  Pseudohyperphosphatemia in a Patient with Multiple Myeloma 
Hyperphosphatemia is an unusual manifestation in patients with multiple myeloma without a significantly reduced glomerular filtration rate. Serum phosphate may be falsely elevated when a large amount of paraproteins is present in the serum, because ultraviolet light absorbance is elevated with the phosphomolybdate ultraviolet assay, which is most commonly used for serum phosphate measurement. This pseudohyperphosphatemia can be confirmed by deproteinization of the serum of patients. We report a case of multiple myeloma presenting with spurious hyperphosphatemia revealing pseudohyperphosphatemia by deproteinization of serum using sulfosalicylic acid.
doi:10.5049/EBP.2007.5.2.131
PMCID: PMC3894513  PMID: 24459512
Paraproteinemia; Multiple myeloma; Pseudohyperphosphatemia
4.  Varying Dialysate Bicarbonate Concentrations in Maintenance Hemodialysis Patients Affect Post-dialysis Alkalosis but not Pre-dialysis Acidosis 
This study aimed to assess the effects of different dialysate bicarbonate concentrations in correcting acid-base imbalance in 53 stable hemodialysis patients in a university-hemodialysis unit. Three different bicarbonate concentrations were assigned, i.e. 25 mEq/L in 10, 30 mEq/L in 30, and 35 mEq/L in 13 patients. Blood gas analyses from arterial line blood samples before and after dialysis in the mid-week were performed for the determination of pH and serum bicarbonate (HCO3-) concentration. The mean values of predialysis arterial HCO3- were mildly acidotic in all 3 groups, but not significantly different among them, whereas those of post-dialysis arterial HCO3- were alkalotic, especially in the group of 35 mEq/L as compared with the other two groups. The mean blood pH was not significantly different among the 3 groups. As expected, there was a positive correlation between pre-dialysis pH and post-dialysis pH (r=0.45, p=0.001), and pre-dialysis HCO3- and post-dialysis HCO3- (r=0.58, p=0.000), but with a negative correlation between pre-dialysis HCO3- and the increment of intradialytic HCO3- following hemodialysis (r=-0.46, p=0.001). In conclusion, this study shows that the impact of conventional dialysate bicarbonate concentrations ranging from 25 to 35 mEq/L is not quite different on the mild degree of predialysis acidemia, but the degree of postdialysis alkalemia is more prominent in higher bicarbonate concentrations. Base supply by hemodialysis alone does not seem to be the main factor to determine the predialysis acidosis in end-stage renal disease patients on chronic maintenance hemodialysis.
doi:10.5049/EBP.2007.5.2.95
PMCID: PMC3894521  PMID: 24459507
Acid-base imbalance; Hemodialysis; Bicarbonate dialysate
5.  Progressive Multifocal Leukoencephalopathy in AIDS: Proton MR Spectroscopy Patterns of Asynchronous Lesions Confirmed by Serial Diffusion-Weighted Imaging and Apparent Diffusion Coefficient Mapping 
Progressive multifocal leukoencephalopathy (PML) is a rare disease that occurs mainly in immunocompromised patients. Despite the progressive nature of the disease, the changes on MRI during the disease course - which may help in monitoring the disease process - have seldom been reported. Here we describe a patient with polymerase-chain-reaction-proven PML examined using serial diffusion-weighted imaging (DWI) and apparent-diffusion-coefficient mapping. Magnetic resonance spectroscopy (MRS) revealed that the demyelinating process was more active without significant neuronal loss at the newer and advancing edge of a lesion than in the older central part of the lesion. This case shows that MRI findings such as DWI and MRS may improve the diagnosis and the understanding of the pathophysiology of PML.
doi:10.3988/jcn.2007.3.4.200
PMCID: PMC2686949  PMID: 19513133
AIDS; Progressive multifocal leukoencephalopathy; Proton magnetic resonance spectroscopy; Diffusion-weighted imaging
6.  Scleroderma, Stress and CAM Utilization 
Scleroderma is an autoimmune disease influenced by interplay among genetic and environmental factors, of which one is stress. Complementary and alternative medicine (CAM) is frequently used to treat stress and those diseases in which stress has been implicated. Results are presented from a survey of patients with scleroderma. Respondents were a convenient sample of those attending a national conference in Las Vegas in 2002. Findings implicate stress in the onset, continuation and exacerbation of scleroderma. The implication is that CAM providers may be filling an important patient need in their provision of services that identify and treat stress and its related disorders.
doi:10.1093/ecam/nem142
PMCID: PMC2781773  PMID: 18955259
CAM use; scleroderma; stress
7.  Mycobacterium Avium Complex Infection Presenting as an Endobronchial Mass in a Patient with Acquired Immune Deficiency Syndrome 
Mycobacterium avium complex (MAC) infection is a common opportunistic infection in patients with AIDS (acquired immune deficiency syndrome). Pulmonary involvement of MAC may range from asymptomatic colonization of the respiratory tract to invasive parenchymal or cavitary disease. However, endobronchial lesions with MAC infection are rare in immunocompetent and immunosuppressed hosts. Here, we report MAC infection presenting as an endobronchial mass in a patient with AIDS.
doi:10.3904/kjim.2007.22.3.215
PMCID: PMC2687693  PMID: 17939342
Mycobacterium avium complex; Endobronchial mass; AIDS
8.  Metabolic Acidosis in Maintenance Hemodialysis Patients: Clinical Impact and Intervention 
Metabolic acidosis has been considered as one of the reverse epidemiologic factors for the morbidity and mortality in maintenance hemodialysis patients (MHP). Expectedly, in the recent large scale epidemiologic study (The Dialysis Outcome Practice Pattern Study, DOPPS), a mild to moderate degree of predialysis metabolic acidosis has shown better nutritional status and lower relative risk for mortality and hospitalization in MHP. Similarly, another recent study of the largest sample size of MHP of more than 55,000 revealed the lowest unadjusted mortality with mild to moderate degree of predialysis HCO3 levels (17 to 23 mEq/L). However, it was reversed after case-mix and multivariate adjustment, including the malnutrition-inflammation complex syndrome, so that predialysis HCO3 levels of more than 22 mEq/L had a lower death risk. On view of this up-to-date on-going controversy about the optimal acid-base status for MHP, this paper will review the historical and break-through data about the pros and cons of metabolic acidosis published in the clinical human studies of MHP, a special subgroup of chronic kidney disease patients. Based on these results, if possible, we would like to suggest the best practice guideline, particularly, for the optimal predialysis HCO3 level, dialysate HCO3 concentration, and dietary protein intake.
doi:10.5049/EBP.2007.5.1.42
PMCID: PMC3894505  PMID: 24459499
Metabolic acidosis; Hemodialysis
9.  Quantitative Analysis of Aortic Atherosclerosis in Korean Female: A Necropsy Study 
Journal of Korean Medical Science  2007;22(3):536-545.
To assess the regional difference and influence of the biological variables on atherosclerosis in female, we analyzed 7 segments of aorta (2 ascending, 3 thoracic, and 2 abdominal) from 90 superficially healthy Korean women (39±14 yr of age) who died from external causes. Tissue specimens were macroscopically examined and histopathologically divided into 7 grades for scoring (ATHERO, from 0=intact, to 6=thrombi formation). Lumen diameter (LD), wall thickness (WT), intima thickness (INT), and media thickness (MED) were obtained by computed morphometry. Atherosclerosis was common in the distal infrarenal (C2), proximal thoracic (B1), and proximal ascending (A1) segments. Total 95.6% of all subjects had atherosclerosis of variable degree in one or more segments, but an aneurysmal change was not found. The number of atherosclerotic segments and atherosclerosis score in the 7 segments increased with aging. However, the body size did not affect the aortic size and ATHERO. With aging, LD and INT of the A1, B1 and C2 increased (p<.00001); WT of the B1 and C2 increased (p<.01); and MED of C2 decreased (p<.01). LD and WT of the B1 and C2 (p<.05), INT of the A1, B1 and C2 (p<.00001) increased, and MED of C2 decreased (p<.01) with ATHERO. These data suggest that age is simple but a reliable parameter for estimating the progression of atherosclerosis.
doi:10.3346/jkms.2007.22.3.536
PMCID: PMC2693651  PMID: 17596667
Age; Aorta; Atherosclerosis; Body Size; Morphometry
10.  Adrenalectomy for Metastatic Disease to the Adrenal Gland from Gastric Cancer: Report of a Case 
Metastases to the adrenal glands are frequently found at autopsy. In practice, adrenal metastases have generally been accepted as evidence of blood-borne systemic disease. So, clinically curable adrenal metastases is a rare malady. The role for surgical resection in adrenal metastases has not been clearly defined. A 45-year-old man initially underwent total gastrectomy with D2 lymph node dissection for treating his advanced gastric cancer. A solitary adrenal metastases was resected 1 year later. The patient has survived for 3 years and no further evidence of disease was found on his last follow-up examination. We report here on this case to show that for selected cases, surgical resection of adrenal metastases is feasible and this procedure may extend survival for metastatic gastric cancer patients.
doi:10.3904/kjim.2007.22.1.18
PMCID: PMC2687596  PMID: 17427640
Gastric cancer; Metastases; Adrenalectomy

Results 1-10 (10)