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Biomedical subjects

A Kawashima

Publications and source records attributed to A Kawashima.

At least 73 records · Page 4Linked to original sources

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.

We identified a new mutation in the myophosphorylase gene in a Japanese family with McArdle's disease. This point mutation results in the replacement of a tryptophan at amino acid position 361 with a stop codon, the third nonsense mutation in this disorder. Our findings further expand the already wide spectrum of genetic lesions associated with McArdle's disease, and establish that molecular genetic heterogeneity is also present in the Japanese population.

Aged↗

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.

Muscle-specific phosphoglycerate mutase (PGAM-M) deficiency results in a metabolic myopathy (glycogenosis type X). Three mutations in the PGAM-M gene have been described thus far, two in African-American families and one in a Caucasian family. In two of them, manifesting heterozygotes were documented. We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D). Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic.

Amino Acid Sequence↗

Normal anatomy of the fetus at MR imaging.

Owing to recent advances in magnetic resonance (MR) imaging, the role of obstetric MR imaging has increased in cases in which the results of ultrasonography are equivocal. Fast MR imaging sequences, such as T2-weighted fast spin-echo (SE), half-Fourier single-shot fast SE, 0.5-signal-acquired single-shot fast SE, and echo-planar imaging, have virtually eliminated the need for fetal premedication, with a concomitant improvement in image resolution and diminished blurring. Artifacts related to maternal respiratory motion and fetal motion no longer limit the anatomic detail that can be demonstrated with MR imaging. With such advances in obstetric MR imaging, knowledge of normal fetal anatomy at MR imaging is essential to detect disease in utero. MR imaging can demonstrate fetal anatomy in detail, especially the brain, thorax, abdomen, pelvis, and vasculature. Major developmental structures of the fetus, particularly the cranial nervous system, naso- and oropharynx, lungs, and major abdominal viscera, can be adequately evaluated with targeted fast MR imaging as early as the beginning of the second trimester. However, MR imaging of the heart remains limited. Fetal MR imaging during the first trimester remains controversial secondary to biosafety issues and is limited due to diminutive fetal size.

Echo-Planar Imaging↗

Ureterolithiasis: value of the tail sign in differentiating phleboliths from ureteral calculi at nonenhanced helical CT.

PURPOSE: To determine the value of the tail sign in differentiating phleboliths from ureteral calculi at nonenhanced helical computed tomography (CT). MATERIALS AND METHODS: The nonenhanced helical CT scans in 82 patients with a confirmed diagnosis of pelvic ureterolithiasis were retrospectively reviewed. Each calcification along the ureter was classified as a phlebolith or a ureteral calculus on the basis of clinical and imaging findings and was analyzed for the presence of a tail sign. RESULTS: Eighty-two patients each had a single ureteral calculus. None of these calculi were associated with a positive tail sign. Sixty-nine phleboliths were present in 35 patients. Forty-five phleboliths (65%) were associated with a positive tail sign. Of the remaining 24 phleboliths, 17 (25%) were associated with a negative tail sign and seven (10%) were indeterminate. The tail sign has a sensitivity of 65% (45 of 69; 95% CI: 53%, 75%) and a specificity of 100% (82 of 82; 95% CI: 96%, 100%) in differentiating phleboliths from ureteral calculi. CONCLUSION: The tail sign is an important indicator that a suspicious calcification represents a phlebolith. Absence of the tail sign indicates that the calcification remains indeterminate.

Adolescent↗

Acute ureterolithiasis: nonenhanced helical CT findings of perinephric edema for prediction of degree of ureteral obstruction.

PURPOSE: To determine whether the extent of perinephric edema on helical computed tomographic (CT) images without contrast material enhancement can be used to predict the degree of ureteral obstruction in patients with acute ureterolithiasis. MATERIALS AND METHODS: Nonenhanced helical CT and excretory urographic images in 82 patients with flank pain were retrospectively reviewed. For each patient, a radiologic diagnosis was established, and the degree of ureteral obstruction determined on urograms was compared with the extent of perinephric edema assessed on CT images. RESULTS: None of 29 patients with no abnormalities seen at urography had evidence of perinephric edema at CT. Of six patients with noncalculous disease, two with acute pyelonephritis had perinephric edema at CT. Of 47 patients with acute ureterolithiasis, eight had no perinephric edema at CT and a nonobstructing calculus at urography, 21 had limited edema at CT and low-grade obstruction at urography, and 15 had extensive edema at CT and high-grade obstruction at urography. Three patients had extensive perinephric edema at CT but low-grade obstruction at urography. The extent of edema allowed accurate prediction of the degree of ureteral obstruction in 44 (94%) of 47 patients with acute ureterolithiasis. CONCLUSION: The extent of perinephric edema on nonenhanced helical CT images can be used to predict the degree of ureteral obstruction in acute ureterolithiasis.

Acute Disease↗

[The spinal somatosensory evoked potentials in amyotrophic lateral sclerosis in relation to the spinal cord conduction velocities].

The lumbar-to-cervical conduction velocity (spinal cord conduction velocity, SCCV) was electrophysiologically studied in 14 patients with amyotrophic lateral sclerosis (ALS). The age of these patients ranged from 37 to 63, averaging 51.0 years old. We recorded the spinal somatosensory evoked potentials (SSEPs) from the surface electrodes at the level of the C2 spine and the T12 spine by the simultaneous stimulation of bilateral posterior tibial nerves. SCCV from the lumbar to cervical was measured from the latency difference between both SSEPs elicited at the each position. As the results, SCCVs were in the range of 50.6-66.6 (58.6 +/- 4.7: mean +/- SD) m/sec in normal age matched controls (18 adult volunteers, 46-63 years old, averaging, 52.7). On the other hand, in ALS patients, SCCVs were in the range of 42.1-67.1 (53.5 +/- 7.8: mean +/- SD) m/sec, values of which were lowered compared to those in normal subjects. These examination documented 4 out of 14 patients with ALS (28.6%) showing abnormalities beyond standard deviation. The vibration sense was checked by using 128 Hz tuning fork at the ankles, and for the quantitative measurement, a newly designed vibriometer being attached the piezoelectric accelerometer to the end of 128 Hz tuning fork was applied in 14 ALS patients. The vibration sense at the ankles was diminished in 6 patients, and 3 patients showed the abnormalities beyond 2 standard deviations. The degree of lowering in SCCVs among ALS patients were correlated with the degree of diminution of impaired vibration sense and the duration of illness, but were not correlated with the H/M ratio and the latency difference between T wave and H wave. Since SSEP impulses are transmitted in dorsal columns and dorsolateral fasciculus predominantly by large diameter and fast-conduction fibers, our results may suggest that, in ALS patients, spinal cord conduction velocities of ascending fibers mediating the dorsal columns and dorsolateral fasciculus are disturbed compared to those in normal subjects, and that the functional disturbance of ascending fibers mediating the dorsal columns and dorsolateral fasciculus plays the important role in the high rates of impaired vibration sense among ALS patients.

Adult↗

[Anesthetic management of patients with malignant pleural effusion undergoing hyperthermic perfusion under thoracoscopy].

Nine patients with malignant pleural effusion due to lung cancer had been scheduled for hyperthermic treatment with warmed distilled water (40 degrees C) under thoracoscopy. This treatment aims to produce adhesion of the lungs to reduce pleural effusion. To evaluate the risk of general anesthesia for patients with lung cancer at the end stage, we examined the problems of perioperative management. Seven out of nine patients were classified into ASA physical status > or = III and seven patients into Hugh Jones > or = III Shapiro's score was > or = 5 in four patients. The average %VC was 60 +/- 16 and % FEV1.0 was 41 +/- 18% (means +/- SE). A double lumen endotracheal tube was inserted and anesthesia was maintained with inhalational anesthetics. In two cases, one-lung ventilation could not be maintained because of severe hypoxemia during hyperthermic perfusion. Hypertension occurred in three cases and hypotension in one by direct heat stimulation of the cardiopulmonary system. Although their preoperative risk was poor, there were no major complications and the quality of life was improved. We stress that careful anesthetic management is important for avoiding hypoxemia and hemodynamic instability during this treatment.

Aged↗

Increased serum levels of vascular endothelial growth factor in human crescentic glomerulonephritis.

OBJECTIVE: To investigate the serum levels of vascular endothelial growth factor (VEGF) in human crescentic glomerulonephritis (CRGN). METHODS: The serum VEGF levels in CRGN patients were compared with those in healthy subjects and in various types of glomerulonephritis. In addition, we investigated the relationship between serum VEGF levels and creatinine levels (Scr) and pathological parameters. RESULTS: The serum VEGF levels of the CRGN patients were significantly higher than in the healthy subjects and patients with MCNS, IgAN, and FGS. No correlation was found between serum VEGF levels and Scr in the RPGN patients. The serum VEGF levels in 6 CRGN patients had significantly decreased after 6 months of corticosteroid therapy. Moreover, there was a significant correlation between the serum VEGF levels and the crescent frequency or the grade of interstitial injury, and the rates of glomerular infiltration by macrophages. CONCLUSIONS: In the CRGN patients, severe glomerular and interstitial damages would result in increased serum VEGF levels and corticosteroid therapy may exert its efficacy through reduction of serum VEGF levels.

Adrenal Cortex Hormones↗

Current roles and controversies in the imaging evaluation of acute renal infection.

The current roles and controversies in imaging of the kidneys for the evaluation of patients with acute renal infection are reviewed. The nomenclature used in describing the extent of the renal imaging findings in acute pyelonephritis suggested by the Society of Uroradiology to help avoid confusion in terminology in the past literature is briefly described. Computed tomography (CT) is superior to urography and renal sonography for the evaluation and management of adults with acute renal infection. [99mTc]-dimercapto succinic acid (DMSA) cortical scintigraphy is the imaging study for the evaluation of children with acute pyelonephritis investigated by some, although power Doppler ultrasound, and even CT, can be considered as a possible alternative.

Acute Disease↗

Noncontrast helical CT for ureteral stones.

Noncontrast helical computed tomography (CT) has recently been found to be superior to excretory urography (IVU) in the evaluation of patients with suspected ureterolithiasis. Noncontrast helical CT does not require the use of intravenous contrast material with its associated cost and risk of adverse reactions and can be completed within 5 min, in most cases. Noncontrast CT often detects extraurinary pathology responsible for the patient's symptoms. CT is also more sensitive than IVU in detecting the calculus, regardless of its size, location, and chemical composition. However, confidently differentiating ureteral calculi from phleboliths along the course of the ureter may, at times, be difficult. The "tissue-rim" sign, a rim of soft tissue attenuation around the suspicious calcification, is helpful in making this distinction. Noncontrast CT does not provide physiological information about renal function and the degree of obstruction. A pilot study has suggested a proportional relationship between the extent of perinephric edema and the degree of obstruction. The cost of the examination and the radiation dose delivered to the patient may be higher with CT. Despite these limitations, noncontrast helical CT has quickly become the imaging study of choice in evaluating patients with acute flank pain.

Humans↗

Lower urinary tract trauma.

This article reviews and illustrates bladder and urethral injuries, including their mechanisms of injury, imaging diagnosis, systems for classification, and the accuracy/pitfalls of the diagnostic methods. The bulk of this review will focus on lower urinary tract injuries caused by high speed, wide impact blunt trauma which is the most common mechanism of lower urinary tract injury encountered in civilian practice.

Humans↗

Churg-Strauss syndrome (allergic granulomatous angitis) presenting with ileus caused by ischemic ileal ulcer.

We report a rare case of Churg-Strauss syndrome (CSS) in a 41-year-old Japanese man with a history of middle-age onset of bronchial asthma who had severe abdominal pain. He presented with ileus caused by an annular ulcer of the ileum, attributable to mucosal ischemia resulting from necrotizing vasculitis of the mesenteric artery. He also had marked hypereosinophilia (51.5%), elevated serum IgE levels (34040 IU/ml), and generalized enlargement of the superficial cervical lymph nodes, containing eosinophilic granulomas. A stenotic lesion caused by an annular ulcer in the ileum was found and resected by laparotomy. Microscopic examination of the resected specimen revealed luminal narrowing or occlusion of small arteries in the ulcer base, subserosa, and mesenterium resulting from marked fibrotic intimal thickening with fragmentation or lack of the internal elastic lamina. These findings were diagnosed as vasculitis, scar stage. The postoperative course was uneventful, with the patient receiving a maintenance dose of prednisolone (10-15 mg/day) for 7 years subsequently. We must carefully diagnose and treat patients with middle-age onset asthma, because the symptom may be a lung manifestation of CSS, in which various organs including gastrointestinal tract are involved as a result of systemic necrotizing vasculitis.

Adult↗

Immunohistochemical analysis of several proteolytic enzymes as parameters of cartilage degradation.

Osteoarthritis is the most common joint disease in humans. It is characterized by a gradual loss of extracellular matrix components of articular cartilage such as collagen and proteoglycan. Presently, however, emphasis is placed on enzymes exerting a strong influence on cartilage degradation. These enzymes include matrix metalloproteinases (MMP), their specific inhibitors (TIMP) and the plasminogen activator/inhibitor system. We applied monoclonal antibodies against MMP-1, -2, -3, -9 and their inhibitors TIMP-1/-2, as well as against urokinase-plasminogen activator u-PA and its inhibitor PAI to investigate their influence on articular cartilage degradation in patients with varusgonarthritis. We examined the cartilage of the lateral and medial compartments of 20 tibia plateaus, which can present with slight and severe cartilage degradations at the same time. In doing so, we tried to show whether or not immunohistological detection of enzymes could serve as a parameter for chondral degradation. The strongest immunoreaction for all enzymes was noted in the superficial layer of articular cartilage both medially and laterally. Between medial and lateral compartments, however, there were striking differences in the immunoreaction intensity of chondrocytes for MMP-1 and -3 as well as for TIMP-1 and u-PA. We noted that in cartilage with more advanced degradation, the immunoreaction for these enzymes was significantly higher in medial than in lateral compartments (p < 0.05). At the immunohistological level, a direct correlation between the grade of cartilage degradation and immunoreaction intensity was found. Our results corroborate the assumption that the expression of certain matrix-degradating enzymes serves as a parameter for the grade of cartilage degradation.

Aged↗

A simple procedure for the isolation of rat kidney lysosomes.

BACKGROUND: A procedure for the isolation of highly purified lysosomes from normal rat kidney is described. METHODS: The method depends on the swelling of mitochondria when the postnuclear supernatant fraction is incubated with 2 mM Ca2+. The lysosomes can then be separated from the swollen mitochondria by Percoll density gradient centrifugation. RESULTS: The lysosomal fraction obtained by our method was enriched more than 30-fold in terms of marker enzymes with a yield of about 11%. Electron microscopic examination and the measurement of the activities of marker enzymes for various subcellular organelles indicated that our lysosomal preparation was essentially free from contamination by other organelles. CONCLUSION: We believe that this procedure for isolating kidney lysosome will be useful in the study of the mechanisms of specific modification, processing and catabolism of proteins.

Albumins↗

Metabolic profiles of patients with subarachnoid hemorrhage treated by early surgery.

OBJECTIVE: This study was conducted to evaluate the metabolic response of patients with subarachnoid hemorrhage (SAH) and to determine whether the severity of hemorrhage influenced the response. METHODS: Resting energy expenditure, nitrogen balance, and serum rapid-turnover proteins were studied for 3-day periods at Day 4, Day 10, and before discharge in patients with SAH who underwent surgical clipping within 2 days after the onset. The patients were divided into two groups according to the Hunt and Hess classification system; there were 17 patients with Grade I or II (mild group) and 19 patients with Grade III, IV, or V (severe group). RESULTS: The mean resting energy expenditures (mean+/-standard deviation) were highest on Day 10, which were 146+/-24% and 198+/-78% of basal energy expenditure in the mild and severe groups, respectively. The nitrogen balance levels of the mild group on Days 4 and 10 were -3.0+/-3.5 g per day and -4.5+/-2.9 g per day, and those of the severe group were -7.5+/-3.2 g per day and -9.2+/-4.1 g per day, respectively. There was a significant difference in the nitrogen balance over time between the two groups (P=0.0037). Serum transferrin, prealbumin, and retinol-binding protein levels were lowest on Day 4 and gradually increased. There were no significant differences in these parameters between the two groups. CONCLUSION: SAH treated by surgery induces a profound stress response. A significant difference of increased catabolism but not decreased anabolism between the mild and severe groups was noted.

Aged↗

Ureterolithiasis: can clinical outcome be predicted with unenhanced helical CT?

PURPOSE: To evaluate the use of helical computed tomography (CT) without contrast material enhancement for prediction of a favorable outcome in ureterolithiasis. MATERIALS AND METHODS: CT studies were reviewed in 69 patients with a single ureteral stone not located at the ureteropelvic junction. CT findings (tissue rim sign, hydronephrosis, perinephric fat stranding, perinephric fluid collections, and thickening of renal fascia) were graded on a scale of 0-3. Stone diameter and renal parenchymal enlargement were also measured. RESULTS: Twenty-two patients had spontaneous passage, 12 did not respond to conservative treatment, and 35 were lost to follow-up. When the latter 35 patients were excluded, perinephric fat stranding (P = .044) and perinephric fluid collections (P = .021) were graded significantly higher in patients with spontaneous stone passage. Mean stone diameter was significantly larger (P < .001) in patients in whom conservative treatment failed (mean, 7.8 mm) than in patients with spontaneous stone passage (mean, 2.9 mm). The presence of a tissue rim sign and the grade of hydronephrosis, renal fascial thickening, and renal parenchymal enlargement were not significantly different between the two groups. CONCLUSION: In addition to stone size, the degree of perinephric fat stranding and the presence of perinephric fluid collections are useful ancillary signs for help in predicting the likelihood of stone passage.

Adipose Tissue↗