bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients
Authors: Tsai Fuu‐Jen , Yang Chi‐Fan , Wu Jer‐Yuarn , Tsai Chang‐Hai , Lee Cheng‐Chun 
Published: March 2003

Abstract

Background
: Crouzon syndrome is an autosomal dominant disorder causing premature fusion of the cranial suture. Mutations have been reported in exon IIIa or IIIc of the fibroblast growth factor receptor 2 (FGFR2) gene.
Methods
: In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing.
Results
: Mutations were detected in 67% (6/9) of all cases. More than half the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel mutation, Tyr281Cys substitution, was discovered at exon IIIa.
Conclusions
: The mechanisms by which the same genotypes cause different phenotypes for each type of craniosynostosis syndrome in still uncertain. However, the molecular identification of the FGFR gene has made a great impact on the clinical classification of craniosynostosis syndromes; a new classification based on genotypes seems to be unavoidable.
Physical signs associated with excessive television‐game playing and sleep deprivation
Authors: Tazawa Yusaku , Okada Kyoji 
Published: March 2003

Abstract

Background
: To elucidate significance of physical signs seen in excessive television‐game (TVG) players complaining of unexplained persistant symptoms, a cross‐sectional cohort study was designed.
Methods
: A total of 1143 school children, aged between 6 and 11‐years‐old, and their parents were included in the study. Questionnaires were sent to guardians asking the number of hours that their children watched TV, TVG, and slept. All children were examined to check for three physical signs, black rings in the skin under the eye (BR), muscle stiffness in the shoulder (MS), and displacement of the scapula associated with muscle stiffness in the shoulder (DS/MS) by inspection and palpitation.
Results
: The three signs, BR, MS and DS/MS, were present in 165 (14.4%), 229 (20.0%) and 72 (6.2%) children, respectively. Boys had greater frequencies of two signs than girls (BR, 19.6%vs 8.9%, P<0.01; MS, 26.1%vs 13.6%, P<0.01), respectively. Boys spent more time on TVG playing than girls (1.1±0.7 h/day vs 0.4±0.6 h/day, P<0.0001), respectively. Excessive TVG players, who spent ≥ 1 h/day for TVG had greater frequencies of two signs, BR and MS, than those of non‐TVG‐players (18.9%vs 13.0%, P<0.05; 25.6%vs 14.4%, P<0.01), respectively. The TVG playing time correlated with two signs, BR (P=0.0143) and MS (P=0.0048). Furthermore, sleep deprivation related to three signs, BR (P=0.0078), MS (P<0.0001) and DS/MS (P=0.0290).
Conclusions
: Excessive TVG playing links to the occurrence of BR and MS. Other factors, which cause sleep deprivation, may underlie in the occurrence of the three signs. The amount of time spent on TVG playing should be regulated to < 1.0 h/day.
Serum cystatin‐C values in children by age and their fluctuation during dehydration
Authors: Takuwa Satoshi , Ito Yuhei , Ushijima Kosuke , Uchida Kazuo 
Published: March 2003

Abstract
Background
: Serum creatinine level (Cr) is extensively used as an index of glomerular filtration rate (GFR) with bedside patients. As serum Cr level differ by the muscle volume, the use of serum Cr as an index of GFR has long been considered problematic in children.
Methods
: The subjects of this study were 135 healthy children aged from 1 to 15‐years‐old. As a pathological condition, the changes in serum cystatin C (Cys‐C) in the children whose blood urea nitrogen exceeded 20 mg/dL during the acute stage of dehydration were also investigated.
Results
: The mean serum Cys‐C value was 0.67 ± 0.19 mg/L on the whole. There was not any male‐female difference. The mean serum Cys‐C values of the 12 cases in the acute stage and the recovery stage were 0.61 ± 0.12 mg/L and 0.64 ± 0.14 mg/L, respectively, indicating no significant difference.
Conclusion
: Serum Cys‐C is considered as a favorable index of GFR in children because it is not influenced by age and sex. As it is not influenced by the prerenal factors either, serum Cys‐C is useful in children over 1‐years‐old.
Free carnitine levels in children with steroid–sensitive nephrotic syndrome
Authors: Gousseinov Afig , Kantar Mehmet , Mir Sevgi , Keskinoglu Ahmet , Coker I‚Sil 
Published: March 2003

Abstract
Background
: Carnitine transports long‐chain fatty acids accross the inner mitochondrial membrane. Carnitine metabolism is disturbed in some renal diseases, such as chronic renal failure. Previous studies have shown that children had normal serum free carnitine (FC) and total carnitine levels in idiopathic nephrotic syndrome, IgA nephropathy, non‐IgA nephropathy and focal segmental glomerulosclerosis. The aim of the present study was to determine FC concentrations in plasma and urine during acute and remission periods of steroid‐sensitive nephrotic syndrome (SSNS) and its association with hyperlipidemia.
Methods
: Plasma and urinary FC concentrations were assayed in 15 children with SSNS in acute and in 16 children in remission period. Six of them were followed‐up longitudinally in both periods.
Results
: Plasma FC concentrations were significantly higher in the acute period of the disease than in the remission period and of the controls. The patients had lower FC levels in the remission period as compared to the controls. Urinary FC concentration was decreased in acute disease period when compared to the remission period and the controls. The FC concentrations in plasma and urine did not correlate with each other. Plasma FC exhibited significant positive correlation with low‐density lipoprotein cholesterol, total cholesterol and trygliceride, but negative correlation with high‐density lipoprotein cholesterol.
Conclusions
: The present study showed disturbed FC concentration in SSNS. Increased plasma and decreased urinary FC levels in acute disease might be associated with its altered renal handling or some extrarenal factors such as hyperlipidemia.
Seroepidemiology of Helicobacter pylori infection in children living in eastern Turkey
Authors: AyŞe SelimoĞlu Mukadder , Ertekin Vildan , İnandi Tacettin 
Published: March 2003

Abstract
Background
: The prevalence of Helicobacter pylori is higher in developing countries, with most infections occurring in childhood. Because the prevalence in eastern Turkey has not been previously reported, we carried out an investigation to detect the prevalence of H. pylori infection in a large city center in this region.
Methods
: Serum samples of 466 randomly selected healthy schoolchildren aged 6−17 years were tested for the presence of anti‐H. pylori IgG antibodies.
Results
: Overall 300 (64.4%) samples were seropositive. The frequency of H. pylori infection was similar in males and females (P = 0.47), was correlated with age (P < 0.0001) and was inversely correlated with economic status (P < 0.0001). Those who had a larger sibship size had a higher seroprevalence (P < 0.0001). There was no significant difference between children whose parents of different educational status (P = 0.56 for fathers and P = 0.86 for mothers).
Conclusion
: This very high prevalence of H. pylori in eastern Turkey seems to depend on environmental factors.
Efficacy of transurethral needle ablation of the prostate for the treatment of benign prostatic hyperplasia
Authors: Namiki Kazunori , Shiozawa Hiroaki , Tsuzuki Masahiro , Mamiya Yoshimi , Matsumoto Tetsuo , Miki Makoto 
Published: March 2003

Background: We evaluated the efficacy and safety of transurethral needle ablation (TUNATM) of the prostate for treatment of symptomatic benign prostatic hyperplasia (BPH) as one institute participating in a Japanese clinical trial. Methods: Thirty‐three patients with symptomatic BPH were treated with the TUNATM procedure in our institute. The international prostate symptom score (IPSS), quality of life (QOL) score, residual urine volume (RV), prostate volume (PV) and peak urinary flow rates (Qmax) were measured and complications were assessed. Results: We followed and evaluated 30 of the 33 cases. At 12 months there were significant improvements in the IPSS (20.7 to 11.2, P < 0.0001), QOL score (4.9 to 2.1, P < 0.0001), RV (46.6 to 22.6 mL, P < 0.01), PV (37.8 to 30.0 mL3, P < 0.002) and Qmax (8.00 to 11.0 mL/s, P < 0.002). There were no serious complications. Conclusion: This trial shows that the TUNATM procedure is a safe and efficacious treatment for symptomatic BPH.
Fistula advancement operation in the treatment of selected cases of persistently recurrent urethrocutaneous fistula following distal penile hypospadias repair
Authors: MARZOUK ESSAM 
Published: March 2003

Background: Hypospadias fistula may be a persistently recurrent problem in some cases. The present paper describes a urethral mobilization procedure as a new way to solve this problem.Methods: The procedure was performed on seven children suffering from recurrent hypospadias fistula that had failed more than once to be repaired by the classic ways of closure. Selection of suitable cases should be done intra‐operatively, when urethral mobilization has successfully allowed the fistula opening to easily reach the glans top. The described procedure is an extensive urethral mobilization that advances the fistula opening to the neomeatus at the glans top through a glanular tunnel.Results: The operation resulted in a straight penis with the neomeatus at the glans top in all seven children, without complications, over a period of 6–18 months follow up.Conclusions: The fistula advancement operation, as it is called by the author, can, in selected cases, solve the problem of persistently recurrent hypospadias fistula with a high success rate. Thus, the author recommends that this technique is added to urologists’ armamentarium.
Glomus tumor of the penis
Authors: SAITO TOSHIHIRO 
Published: March 2003

AbstractGlomus tumors of the penis are extremely rare. A patient with multiple regional glomus tumors involving the penis is reported. A 16‐year‐old boy presented with the complaint of painless penile masses and resection of the lesions was performed. The pathologic diagnosis was glomus tumor of the penis. This is the ninth case of glomus tumor of the penis to be reported in the literature.
Changes in serum prostate‐specific antigen following prostatectomy in patients with benign prostate hyperplasia
Authors: Furuya Yuzo , Akakura Koichiro , Tobe Toyofusa , Ichikawa Tomohiko , Igarashi Tatsuo , Ito Haruo 
Published: March 2003

Abstract Purpose To investigate how prostatectomy for patients with benign prostate hyperplasia (BPH) affected the serum prostate‐specific antigen (PSA) levels.Methods In 193 patients who underwent prostatectomy for BPH, serum PSA levels were measured before and three months after the operation. The total prostate weight measured by transrectal ultrasonography (TRUS) and the weight of the surgical specimen were examined in relation to the pretreatment PSA value and the changes in PSA levels after the operation.Results The transition zone volume measured by TRUS could well estimate the weight of the surgical specimen in patients who underwent subcapsular prostatectomy and transurethral resection of the prostate. The concentration of preoperative serum PSA showed a significant correlation with the prostatic volume and with the transition zone volume. Removal of 1 g of BPH tissue reduced serum PSA levels by an average of 0.18 ng/mL. The change in serum PSA levels after the prostatectomy correlated with the total prostatic gland volume and with the transition zone volume.Conclusions The elevated PSA levels in patients with BPH were caused by the enlargement of the transition zone. After the resection of the adenoma, PSA levels should be expected to decrease to the normal range.
Transurethral needle ablation of the prostate: An initial Japanese clinical trial
Authors: Murai Masaru , Tachibana Masaaki , Miki Makoto , Shiozawa Hiroaki , Hirao Yoshihiko , Okajima Eigoro 
Published: March 2003

Abstract Objectives: Transurethral needle ablation of the prostate is a new alternative endoscopic thermal therapy that uses a low‐energy radio frequency delivered into the prostatic adenoma. Herein is reported the initial clinical experience by multiple institutes in Japan of transurethral needle ablation of the prostate for the treatment of symptomatic benign prostatic hyperplasia.Methods: A total of 93 patients were treated with this technique. Transurethral needle ablation of the prostate was generally performed under low‐spinal anesthesia. Before and after the procedure, international symptom score (IPSS), quality of life (QOL) score, peak urinary flow rate (Qmax), postvoid residual urine volume and prostate size were evaluated.Results: There was a reduction of IPSS of more than 50% when compared with that of pretreatment, being 51.3% (57/93 patients) and 60.2% (56/93 patients) at 3 months and 6 months after the procedure, respectively. Sixty‐seven patients who were available for a 12‐month follow‐up period demonstrated a markedly decreased mean IPSS when compared with that measured before the treatment for a statistically significant difference (P < 0.01). Fifty‐eight patients who were available for uroflowmetric study at 12 months exhibited a notably increased mean Qmax of 11.2 ± 4.5 mL/s, which was a statistically significant increase when compared with that found before treatment (P < 0.05). Although all patients suffered some degree of gross hematuria after the procedure, none of them required any specific treatment for complications.Conclusion: Transurethral needle ablation technique for the treatment of symptomatic benign prostatic hyperplasia is safe and effective. However, a much longer follow‐up study is essential for fully evaluating the extended effectiveness of this technique.
Clomiphene citrate versus varicocelectomy in treatment of subclinical varicocele: A prospective randomized study
Authors: Unal Dogan , Yeni Ercan , Verit Ayhan , Karatas Omer Faruk 
Published: March 2003

Abstract Background: The purpose of the study was to compare the effect of varicocelectomy with that of clomiphene citrate on seminal improvement and pregnancy rates in patients with subclinical varicocele.Methods: A total of 42 infertile men with left subclinical varicocele were randomized to group I (21 patients, surgery) and group II (21 patients, medical therapy). The patients in group I were treated with varicocelectomy and those in group II with clomiphene citrate, 50 mg/day, orally. Sperm parameters (sperm density, motility and morphology) were recorded before and 6 months after beginning the treatment and pregnancy rates were estimated. In statistical analysis, paired and independent‐samples t‐tests, Kaplan–Meier and Log rank tests and Fisher's exact test were used.Results: Mean ± SD age of the series was 32.7 ± 6.1 years, that of group I was 32.2 ± 5.5 years and that of group II was 33.1 ± 6.7 years (P = 0.680). All seminal parameters increased after both surgical and medical treatment, but only increases in sperm density and motility following varicocelectomy were statistically significant. Changes in seminal parameters between groups I and II were statistically insignificant. Pregnancy was seen in two cases in group I and in one in group II (P = 0.500). The cumulative pregnancy rates were 12.5% in group I and 6.7% in group II (P = 0.589).Conclusions: Clomiphene citrate did not increase sperm density and motility as effectively as subclinical varicocelectomy, but there was no statistically significant difference between surgical and medical therapy methods in terms of seminal improvement and pregnancy rate.
Prognostic factors for survival and bladder recurrence in transitional cell carcinoma of the upper urinary tract
Authors: Morioka Masaaki , Jo Yoshimasa , Furukawa Yoji , Kinugawa Keigo , Sone Atsushi , Matsuki Takakazu , Kobayashi Tatsuya , Fujii Tomohiro , Tanaka Hiroyoshi 
Published: March 2003

Abstract Background: Prognostic factors for survival in transitional cell carcinoma of the upper urinary tract have been extensively evaluated, but detailed analyses of patterns of bladder recurrence after surgery have been rare.Methods: The outcome and tumor recurrence of 93 patients with transitional cell carcinoma of the upper urinary tract surgically treated between 1975 and 1999 were reviewed, retrospectively. Disease‐specific survival by pathologic stage and grade were analyzed by the Kaplan–Meier method. Prognostic factors for survival and bladder recurrence were examined by univariate and multivariate analysis.Results: The 5‐year disease‐specific survival rates of the patients with pTa, T1 and T2 were 92.9%, 100% and 88.9%, respectively. However, that of the pT3 patients was 61.9% and the median survival of the pT4 cases was only 7 months. Bladder recurrence was seen in 40 cases and recurrences occurred within 1 year in 32 of these patients. The stage and grade of metachronous bladder tumors usually resembled those of primary tumors, but invasive recurrences were seen in 19% of recurrent cases with primary pTa, pT1 tumors. The significant prognostic factor for survival was pathologic stage (pT3, pT4), but no significant variables were detected for bladder recurrence by multivariate analysis.Conclusions: The prognosis of pT3, pT4 patients is poor and effective systemic adjuvant therapy is necessary. Invasive bladder recurrence occurred in 19% of patients with superficial primary tumors. As no significant prognostic variables for bladder recurrence were identified, careful follow up for bladder recurrence is important even if the primary tumors are non‐invasive.
Adenovirus‐mediated suicide‐gene therapy in an orthotopic murine bladder tumor model
Authors: Cheon Jun , Moon Du Geon , Cho Hyun Yee , Park Hong Seok , Kim Je Jong , Gardner Thomas A. , Kao Chinghai 
Published: March 2003

Abstract
Background:
Patients with high‐grade transitional‐cell carcinoma (TCC) of the bladder frequently experience recurrence and progress and have a low response rate to chemotherapy in metastatic TCC. In this study, we evaluated the feasibility and long‐term efficacy of suicide‐gene therapy using adenovirus (Ad)‐mediated herpes simplex virus thymidine kinase gene (HSV‐TK) and prodrug ganciclovir (GCV) as a potential therapeutic approach in murine‐orthotopic models of TCC.
Methods:
A replication defective adenoviral vectors containing toxic HSV‐TK gene under the transcriptional control of RSV (Rous sarcoma virus) promoter (Ad‐RSV‐TK) was used. Orthotopic bladder TCC was established with 1 × 106 murine (MBT‐2) TCC cells in syngenic C3H/He female mice. Intratumoral injection of Ad‐RSV‐TK in combination with GCV (20 mg/kg body weight/day i.p. b.i.d. × 7 days) was administered in vivo for the determination of treatment efficacy and long‐term host survival in separate controlled experiments.
Results:
In vivo experiments demonstrated greater than three‐fold reductions in MBT‐2 tumor growth for the animals treated with Ad‐RSV‐TK (5 × 108 plaque forming units (pfu)/GCV therapy (P < 0.01)). Central tumor necrosis and apoptosis were revealed by histomorphology and immunohistochemistry compared with other control animals (non‐treated, GCV alone, Ad‐RSV‐TK alone). Direct intratumoral injection with Ad‐RSV‐TK/GCV also resulted in significantly improved survival over the control groups in separated experiment (log–rank test, P < 0.05).
Conclusions:
Suicide‐gene therapy using Ad‐RSV‐TK/GCV provides an effective therapy in an experimental murine orthotopic bladder cancer by significantly inhibiting tumor growth and improving long‐term host survival.
Clear cell adenocarcinoma of the urinary bladder inducing acute renal failure
Authors: Matsuoka Yoh , Machida Tatsuya , Oka Kaoru , Ishizaka Kazuhiro 
Published: March 2003

AbstractWe report a case of clear cell adenocarcinoma of the urinary bladder. A 59‐year‐old male was referred to our hospital complaining of oliguria, left lower abdominal pain and loss of appetite. Ultrasonography revealed bilateral hydroureteronephrosis and obstructions at the ureterovesical junction. Magnetic resonance imaging demonstrated an invasive irregular tumor located in the posterior wall of the urinary bladder and urinary infiltration to the left retroperitoneal space.The clinical diagnosis was acute post renal failure due to bilateral ureteral obstructions from an invasive bladder tumor. After we performed bilateral percutaneous nephrostomy, the patient underwent trans urethral biopsy of the bladder tumor, which showed clear cell adenocarcinoma extending from the submucosa to the muscular layer, histopathologically. The patient died of metastatic disease 8 months after diagnosis. To our knowledge, the present case is the 23rd to be reported and demonstrates the shortest survival period in the related literature.
Impact of arterial occlusion during partial nephrectomy on residual renal function: An evaluation with 99m technetium‐dimercaptosuccinic acid scintigraphy
Authors: Kondo Tsunenori , Nakazawa Hayakazu , Ito Fumio , Onitsuka Shiro , Ryoji Osamu , Yago Rie , Hashimoto Yasunobu , Toma Hiroshi 
Published: March 2003

AbstractBackground: Partial nephrectomy (PNx) has been performed with temporary renal arterial occlusion and in situ renal hypothermia (conventional PNx). However, the impact of temporary renal arterial occlusion on residual renal function has not been well assessed. To address this question, we performed renal scintigraphy with 99mtechnetium‐dimercaptosuccinic acid (DMSA) for the quantitative measurement of postoperative residual renal function after conventional PNx and partial nephrectomy without arterial occlusion (non‐clamping PNx).Methods: Thirty‐four patients underwent postoperative DMSA scintigraphy after PNx for renal cell carcinoma. No obvious difference in preoperative renal function between the diseased kidney and the contralateral kidney was found in any of the patients. Of these patients, 24 underwent conventional PNx, and 10 underwent non‐clamping PNx. Residual renal function was evaluated using the relative DMSA uptake of the operated kidney.Results: The relative DMSA uptake of the operated kidney was 39.9 ± 7.3% (25.1–58.8) after conventional PNx compared to 34.8 ± 8.9% (13.5–45.5) after non‐clamping PNx. This difference was not statistically significant (P = 0.15). Total ischemic time during conventional PNx had no adverse influence on the residual renal function. In the analysis of the other determinant factors influencing residual renal function, tumor size was the only significant factor that inversely correlated with the relative DMSA uptake.Conclusion: Our results showed that arterial clamping during PNx has no negative impact on the functional residual capacity as long as insitu renal hypothermia is adequately performed.
Elevated serum estradiol suggesting recurrence of Leydig cell tumor nine years after radical orchiectomy
Authors: Maeda Toshihiro , Itoh Naoki , Kobayashi Ko , Takahashi Atsushi , Masumori Naoya , Tsukamoto Taiji 
Published: March 2003

AbstractWe report a case of a Leydig cell tumor that showed retroperitoneal lymph node metastasis 9 years after radical orchiectomy. Elevated serum estradiol (E2) suggested recurrence of the Leydig cell tumor. Retroperitoneal lymph node dissection (RPLND) was performed and the lymph node was proved histopathologically to have a metastatic Leydig cell tumor. After RPLND, serum E2 returned to the normal range. This is the first reported case in which changes in the endocrinological findings were useful as likely tumor markers to detect the recurrence of a Leydig cell tumor.