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Biomedical subjects

Seiji Yamaguchi

Publications and source records attributed to Seiji Yamaguchi.

At least 37 records · Page 2Linked to original sources
PubMed2005

Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.

Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases). For these 188 patients, onset was most frequent in the neonatal period or early infancy. Approximately 30% of the patients had a family history of similar symptoms or diseases. Although the outcome of OA patients varied, patients with early onset generally had poor outcomes despite early detection. Of the 45 MMA patients whose clinical data were available, 25 were clinically vitamin B12-responsive, while the remaining 20 were non-responsive. A favorable outcome was obtained in 7 of the 25 B12-responsive patients, and in only 3 of the 20 B12-nonresponsive patients. It was suggested that even in B12-responsive MMA cases, earlier detection and B12 therapy were needed to improve the prognosis. We concluded that detection of such patients at the presymptomatic stages using newborn mass screening is essential for prognosis improvement with OAs.

Adolescent↗
PubMed2005

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.

Adult patients deficient in carnitine palmitoyltransferase II (CPT II) cannot generate sufficient amounts of energy, which results in rhabdomyolysis and acute renal failure (ARF). Its genetic basis has been recognized; but histopathologic changes, especially electron microscopic changes, have scarcely been described. The study subject is a patient with ARF caused by repetitive nontraumatic rhabdomyolysis. The acylcarnitine profile of serum and enzyme assay on skin fibroblasts confirmed the diagnosis of CPT II deficiency. Renal biopsy specimens were examined microscopically and immunohistochemically. The histological diagnosis was interstitial nephritis with acute tubular necrosis caused by rhabdomyolysis. Myoglobin in tubules was detected by means of immunohistochemistry and electron microscopy. The genetic structure of CPT II was analyzed in the patient and his family. Eight pairs of polymerase chain reaction (PCR) primers were designed to cover the coding region. Each PCR-amplified gene product was subjected to DNA sequencing, which unveiled heterozygosity at the CPT II locus consisting of a deletion of cytosine and thymine at codon 408, resulting in a stop signal at 420, as well as a mutation of arginine to cysteine at codon 631. The frame shift at 408 has never been described before. DNA sequencing of the family showed the deletion mutation from the mother and the point mutation from the father. We describe renopathological findings in a patient with CPT II deficiency associated with rhabdomyolysis, which suggested the pathological role of myoglobin casts in the development of tubular necrosis. Genetic analysis of the patient identified a novel variant of the CPT II gene.

Adult↗
PubMed2005

Retroperitoneoscopic living related-donor nephrectomy: clinical outcomes of 50 consecutive cases and comparison with open donor nephrectomy.

PURPOSE: To determine whether living related retroperitoneoscopic donor nephrectomy (RDN) is a safe and effective procedure. PATIENTS AND METHODS: From September 2001 to May 2004, RDN was performed in 50 consecutive patients at our hospital. All patients were followed longitudinally with office visits. Perioperative and postoperative data for these RDNs, including operative time, blood loss, and complications, were compared with those of open donor nephrectomies (ODNs) performed between January 1999 and December 2001. RESULTS: The RDN was completed in all cases. The average warm ischemia times were 4.1 minutes (range 1.0-8.5 minutes) and 3.5 minutes (range 2.3-5.5 minutes) in the RDN and ODN groups, respectively (P = NS). The mean operative time for RDN was significantly longer than that for ODN (P < 0.001), but patients in the RDN group had significantly shorter hospital stays (P < 0.05). There was no significant difference between the groups in blood loss during operation or number of doses of analgesics administered after the operation. Perioperative and early postoperative complications occurred in 14 patients (28%) in the RDN group and consisted of subcutaneous emphysema in 9, wound infection in 3, and persistent headache in 2 patients. All kidneys removed retroperitoneoscopically functioned immediately. No recipients required post-transplant continuous hemodialysis. CONCLUSIONS: The RDN is a safe and effective procedure for both donor and recipient. Although the benefits of RDN have been demonstrated, further long-term studies of graft function and patient survival are needed.

Adult↗
PubMed2005

[Repeat biopsy of the suspicious prostate cancer: especially the usefulness of MRI].

Among patients with negative initial biopsies of the prostate, 51 patients underwent total 59 repeat biopsies at the Department of Urology of Ikeda Municipal Hospital between January 1998 and April 2004. Overall 26 patients (44.1%) were confirmed to have cancer, 22 patients by second repeat biopsy (22/51), four patients by third biopsy (4/7) and none by fourth biopsy (0/1). Clinical parameters (age, PSA, PSA density, PSA velocity) were analyzed for the possibility to predict the pathological outcome. Significant differences between the positive biopsy group and the negative biopsy group were obtained in age, PSA level and prostatic volume. Of the diagnostic evaluations including palpation and imaging studies (DRE, TRUS, MRI), the most powerful predictor for prostate cancer seemed to be the MRI findings, especially in the cases of short-interval repeat biopsy. Biopsies directed at the positive lesion on MRI in addition to systematic prostate biopsies should be useful.

Aged↗
PubMed2005

[Small cell carcinoma of the urinary bladder: a case report].

We report a case of primary small cell carcinoma of the urinary bladder. A 74-year-old woman was referred to our hospital because of pollakiuria. Cystoscopy showed a papillary tumor. We operated transurethral resection of the bladder tumor (TUR-Bt). Histopathological finding was transitional cell carcinoma (TCC), grade3, pT1 containing pTis. About six months later, tumor recurred to the bladder. Pathologic diagnosis was TCC in part and most was small cell carcinoma. Pelvic magnetic resonance imaging revealed a huge mass lesion with extravesical extension in the urinary bladder, and computed tomography scan showed external iliac lympho node metastasis. The rapid rise of a tumor maker NSE and pro-GRP were remarkable. It was diagnosed as a rapid advance of small cell carcinoma. We performed pelvic radiotherapy, and chemotherapy using carboplatin (CBDCA) and etoposide (VP-16). However 14 months after it had left hospital, computed tomography showed paraaortic lympho node metastasis. The patient died due to rapidly progressive disease.

Aged↗
PubMed2004

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and direct sequence analyses in 20 MPS IVA patients from Latin America. In this study, 12 different gene mutations including nine unreported ones were identified in 16 severe and four attenuated patients and accounted for 90.0% of the unrelated mutant alleles. The gene alterations were missense mutations except one insertion. Six recurrent mutations, p.A75G, p.G116S, p.G139S, p.N164T, p.R380S, and p.R386C, accounted for 5.0, 10.0, 5.0, 7.5, 5.0, and 32.5% of the unrelated mutant alleles, respectively. The p.R386C mutation was identified in all Latin American populations studied. Eleven mutations correlated with a severe form, while one mutation, p.R380S, was associated with an attenuated form. MPS IVA patients had an elevation of urine and plasma keratan sulfate (KS) concentrations compared with those of the age-matched control. KS concentrations in severe patients were higher than those in attenuated patients. These data provide evidence for extensive allelic heterogeneity and presence of a common mutation in Latin American patients. Accumulation of mutations with clinical description and KS concentration will lead us to predict clinical severity of the patient more precisely.

Adolescent↗
PubMed2004

Evaluation of sphingolipids in vitreous bodies from a patient with Gaucher disease, using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry.

Gaucher disease is a glycolipid storage disorder characterized by the accumulation of glucosylceramide in tissues. Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in vitreous bodies from a patient with Gaucher disease who suffered from vitreous opacities. Crude lipids were extracted from the freeze-dried vitreous bodies with chloroform and methanol. After mild alkaline treatment of the crude lipids, a sphingolipid fraction was prepared and analyzed by DE MALDI-TOF-MS. The results were as follows: (a). the m/z values of the ions found in the mass spectra for both the control and the Gaucher disease patient corresponded to different sphingomyelin species. (b). The mass spectrum of the Gaucher disease patient showed additional ions with m/z values corresponding to different ceramide monohexoside (CMH) species. It was indicated that the accumulation of CMH in vitreous bodies from Gaucher disease patients could be easily detected with the DE MALDI-TOF-MS method.

Adult↗
PubMed2004

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1-65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n = 36) and milder (n = 9). Urine specimens were also analyzed from patients categorized as severe (n = 56) and milder (n = 12), respectively. Blood KS levels (101-1525 ng/mL) in MPS IVA patients were two to eight times higher than those in age-matched controls (15-323 ng/mL). It was found that blood KS level varied with age and clinical severity. Blood KS levels in both MPS IVA and controls peaked between 5 and 10 y of age (mean, 776 versus 234 ng/mL, respectively). Blood levels in severe MPS IVA were 1.5 times higher than in the milder form. In contrast to blood, urine KS levels in both MPS IVA and controls peaked between 1 and 5 y (15.3 versus 0.26 mg/g creatinine), and thereafter declined with age. Urine KS level also varied with age and clinical severity, and the severe MPS IVA phenotype was associated with 6.7 times greater urine KS excretion than the milder one. These findings indicate that the new assay for blood or urine KS may be suitable for early diagnosis and longitudinal assessment of disease severity in MPS IVA.

Adolescent↗
PubMed2004

General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.

The methylation pattern at CpG sites of a housekeeping gene correlates with the likelihood of mutation. Mucopolysaccharidosis (MPS) type II, an X-linked disorder, results from the deficiency of iduronate-2-sulfatase (IDS). In these patients, over 35% of independent point mutations at the IDS gene locus were found at CpG sites as transitional events. To gain insight into the relationship between methylation status and CpG hot spot mutations, we investigated patterns of cytosine methylation in the entire IDS gene, except for introns 4-8. Bisulfite genomic sequencing was performed on the normal leukocyte DNA. Our data show that: 1) cytosine methylation at the CpG sites was extensive, except for those present from the promoter region to a portion of intron 3; 2) a sharp boundary of methylated-nonmethylated regions was observed at the 5'-flanking region, whereas a gradual change in methylation was observed in the 2.0-kb segment in the 3'-flanking region; 3) the boundary of the 5'-flanking region contained multiple Sp1 sites and the TATA box; 4) the CpG sites in exons 1 and 2 were hypomethylated and were associated only with rare transitional mutations, while the CpG sites in exon 3 were also hypomethylated, yet were associated with a high rate of transitional mutations; 5) there was no striking sex difference in the methylation patterns in active alleles; and, 6) the methylation in both strands was symmetrical, except at the boundary of methylated-unmethylated regions.

Amino Acid Sequence↗
PubMed2004

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed by RT-PCR with one amplicon and direct sequence analyses using cDNA samples from 15 Italian MPS IVA patients. Each mutation was confirmed at the genomic level. In this study, 13 different gene mutations with four common mutations (over 10% of mutant alleles) were identified in 12 severe and three milder (attenuated) MPS IVA patients. The gene alterations in 12 out of 13 were found to be point mutations and only one mutation was deletion. Ten of 13 mutations were novel. The c.1070C>T (p.Pro357Leu) mutation coexisted with c.1156C>T (p.Arg386Cys) mutation on the same allele. Together they accounted for 100% of the 30 disease alleles of the patients investigated. Four common mutations accounted for 70% of mutant alleles investigated. Urine keratan sulfate (KS) concentrations were elevated in all patients investigated. These data provide further evidence for extensive allelic heterogeneity and importance of relation among genotype, phenotype, and urine KS excretion as a biomarker in MPS IVA.

Adolescent↗
PubMed2004

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Propionic acidemia (PA) is an inborn error of organic acid metabolism caused by a deficiency of propionyl-CoA carboxylase. This enzyme is composed of two non-identical subunits, alpha and beta, which are encoded by the PCCA and PCCB genes, respectively. An enzyme deficiency can result from mutations in either PCCA or PCCB. To elucidate the mutation spectrum in Japanese patients, we have performed a mutation analysis of 30 patients with PA, which included nine previously reported patients. The study revealed that 15 patients were alpha-subunit deficient and 15 patients were beta-subunit deficient. Seven novel mutations were found (IVS18-6C >G, 1746G >A, C398R, G197E and IVS18+1G >A in the PCCA; A153P and IVS9+1G >T in the PCCB). Among these Japanese patients with alpha-subunit deficiencies, 923-924insT, IVS18-6C >G, and R399Q mutations were frequent and the total allelic frequency of these three mutations combined was 56% (17/30). This is in sharp contrast to the mutation spectrum found in Caucasian patients, where no prevalent mutations have been identified. Among the beta-subunit deficiencies, there were three frequent mutations; R410W, T428I, and A153P, whose allelic frequencies were 30, 26.7, and 13.3%, respectively. In conclusion, a limited number of mutations are predominant in both PCCA and PCCB genes among Japanese patients with propionic acidemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed2004

Heavily melanotic perivascular epithelioid clear cell tumor of the kidney.

A black-colored and well-circumscribed renal tumor in a 71-year-old woman is reported. The tumor was unique in that it was rich in vasculature and exclusively composed of perivascular epithelioid clear cells. Morphological features were reminiscent of conventional renal cell carcinoma (RCC). However, immunohistochemical examinations showed that the tumor cells did not express any epithelial markers, but diffusely and intensely expressed a melanocytic marker, gp-100/HMB-45. Another striking feature of the tumor was a large amount of cytoplasmic pigment that made the tumor wholly black. The pigment was not stained with Berlin-blue, completely bleached with potassium permanganate, and stained with Fontana-Masson staining, which suggests that the pigment was melanin. Morphological features and immunohistochemical findings indicated that the present tumor was an extreme example of a perivascular epithelioid clear cell tumor with a large amount of melanin, which has not been previously reported. One should be aware of the pure form of perivascular epithelioid clear cell tumor of the kidney because it is sometimes very difficult to differentiate this tumor from conventional RCC. Immunohistochemical examinations and the presence of cytoplasmic melanin can help the differentiation.

Adenocarcinoma, Clear Cell↗
PubMed2004

Relation between erectile dysfunction and urinary incontinence after nerve-sparing and non-nerve-sparing radical prostatectomy.

INTRODUCTION: We investigated the status of erectile function and urinary continence after radical prostatectomy to investigate a possible relation between them and then determined whether the status of postoperative urinary continence affected erectile function. PATIENTS AND METHODS: Seventy-six patients who had no symptoms of erectile dysfunction or urinary incontinence preoperatively were included in this study. The postoperative status of erectile function and urinary continence was investigated using a self-reported patient questionnaire. RESULTS: Thirteen of 27 patients (48.1%) who underwent nerve-sparing procedures maintained erectile function, while 7 of 49 patients (14.2%) who underwent non-nerve-sparing procedures maintained it postoperatively. None of the 27 patients in the nerve-sparing procedure group reported incontinence, whereas 3 of the 49 patients (6.1%) who underwent non-nerve-sparing procedures reported moderate incontinence. However, no significant correlation between the International Index of Erectile Function-5 score and the Incontinence Impact Questionnaire score was seen. CONCLUSION: No relation between the status of urinary continence and erectile function was shown, regardless of the nerve-sparing nature of the prostatectomy.

Aged↗
PubMed2004

[A clinical study of estramustine phosphate sodium for the treatment of hot flushes in men with prostate cancer].

PURPOSE: To assess the effectiveness and tolerability of estramustine sodium phosphate in men with hot flushes during combined androgen blockade (CAB) therapy for prostate cancer. PATIENTS AND METHODS: Seven men with moderate to severe hot flushes were received estramustine sodium phosphate. Treatment response was assessed by hot flush score. RESULTS: A significant reduction in the hot flush score was seen with all patients. No thromboembolic complications occurred in any patients. CONCLUSIONS: Estramustine sodium phosphate appears to be a promising, well-tolerated and useful therapy for men with hot flushes during CAB treatment for prostate cancer.

Aged↗
PubMed2004

[Treatment for phimosis with an estrogen-containing ointment in children].

We evaluated the effectiveness of topical application of an ointment containing 0.1% estrogen for phimosis in children. Fifty children 1 to 12 years old (average age 4 years) presenting to our department with phimosis were enrolled in this study and treated with an estrogen-containing ointment for 4 weeks. The ointment was applied on the narrow preputed skin twice a day by the child's parents. The success rate was 82%. There were no side effects. The application of an estrogen containing ointment is a viable alternative for treating phimosis in children.

Administration, Cutaneous↗
PubMed2004

[A case of papillary cystadenocarcinoma of the prostate].

A 63-year-old man presented with dysuria. Ultrasonography revealed a cystic intravesical mass. During needle aspiration we aspirated bloody fluid. The result cytology was class II. We gave medication on an outpatient basis, but symptoms became worse. We performed transurethral resection (TUR) of prostate. Histopathological examination of the TUR specimen revealed a papillary cystadenocarcinoma of the prostate. We diagnosed the tumor as a stage B prostate cancer, and performed total prostatectomy. Histopathological examination of prostate revealed no residual cancer. Eleven cases of papillary cystadenocarcinoma of the prostate in the Japanese literature are reviewed briefly.

Cystadenocarcinoma, Papillary↗
PubMed2004

[Endometrioid adenocarcinoma of the prostate: a case report].

We report a case of endometrioid adenocarcinoma of the prostate. A 60-year-old man visited our hospital with high serum prostate specific antigen (PSA) level (6.4 ng/ml). Digital rectal examination revealed prostatic enlargement but no induration was palpable. Magnetic resonance imaging (MRI) of the prostate demonstrated the low intensity mass lesion around the prostatic urethra on T2-weighted images. Because a prostate cancer revealed by transrectal and transperineal needle biopsy of the prostate, retropubic radical prostatectomy was performed and histological finding showed endometrioid adenocarcinoma of the prostate. We review 41 cases reported in the Japanese literature and discuss them briefly.

Carcinoma, Endometrioid↗