A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents

We report a hitherto unknown, lethal osteochondrodysplasia in two Japanese siblings born to consanguineous parents. The skeletal abnormalities are characterised by mesomelic brachymelia with bowed forearms, a round pelvis with shortened greater sciatic notches, an ossification defect of the pubic bones, and absence of ossification centers in the cervical vertebral bodies. The associated visceral anomalies comprised periportal fibrosis and cystic dysplasia of the intrahepatic bile ducts, pancreatic ductal ectasia, a simple renal cyst, microcephaly with multifocal laminar necrosis and ectopic gray matter, dysplastic tracheobronchial cartilage, abnormal lobulation of the lung, diaphragmatic hernia, and stenotic pulmonary valve. Thrombocytopenia was present but megakaryocytes were slightly increased in the bone marrow. The patients showed various dysmorphic features including aniridia, a long palpebral fissure, prominent nasal bridge, beaked nose, flat philtrum, low-set fleshy ears, micrognathia with submucosal cleft palate, and multiple joint contractures. Received: 23 May 1997 Accepted: 27 June 1997     

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. Received: 14 February 1998 Accepted: 15 June 1998     

Expression of exon v6-containing CD44 isoforms is related to poor prognosis of acute myelocytic leukemia.

CD44 is a cell surface glycoprotein with a number of isoforms generated by alternative splicing of ten 'variant' exons in humans. Variant exon 6-containing isoforms of CD44 (CD44v6) have been implicated in the metastatic potential of rat carcinoma cell lines. Human homologues of CD44v6 are expressed in several tumour types and are involved in their progression. In the present study, we examined the expression of CD44 mRNA in 20 acute myelocytic leukemias by semiquantitative RT-PCR analysis and assessed its prognostic value. In all leukemic cells the predominant isoform was the 'standard' form of CD44 (CD44H), and intense bands were found in eight cases. CD44v6 was expressed in 11 cases, although its levels and those of other variants containing exon v7 through to v10 were much lower than those of CD44H. Isoforms containing exon v4 or v5 could not be detected. The expression of CD44v6 correlated with the death rate from leukemia (p > 0.05), but was not related to other risk factors. On the other hand, the intense expression of CD44H did not correlate with the prognosis of leukemia. CD44v6 thus appears to be a marker for the poor prognosis of acute myelocytic leukemia.     

Chemoradiation therapy for squamous cell carcinoma of anal canal cancer: report of a case

We report a case of anal canal cancer in a 65-year-old woman who had complained of bloody stool. Physical examination revealed a 2.5 cm ulcerated tumor in the anterior wall of the anal canal astride the dentate line. Histological examination of biopsy specimens confirmed the diagnosis of moderately differentiated squamous cell carcinoma. Chemoradiation therapy included whole pelvic irradiation amounting to 4140 cGy followed by conformal boost irradiation of 2000 cGy and 5-fluorouracil div 750 mg/24 hr 3 days, mitomycin C iv 10 mg day 1, and cisplatinum div 50 mg day 2. Six weeks later the tumor had completely regressed, and there was no evidence of recurrence 21 months later. Her anorectal function was retained.     

Usefulness of three-dimensional CT cholangiography for patients prior to laparoscopic cholecystectomy

PURPOSE: The aim of this study was to demonstrate three-dimensional biliary anatomy by using spiral CT scanning for patients prior to laparoscopic cholecystectomy. MATERIALS AND METHODS: We studied 22 patients (11 men, 11 women; mean age, 60 years) with preoperative imaging. All patients had normal serum bilirubin levels. Either 50 ml (in 10 cases) or 100 ml (in 12 cases) of meglumine iotroxate was infused intravenously over 30 minutes. Spiral CT scanning was started immediately after the infusion was finished. Volumetric data through the entire biliary tracts were obtained during one breath-hold. The data were reconstructed by using a maximum intensity projection algorithm and three-dimensional shaded surface rendering. RESULTS: In all patients, the anatomical relationship between the cystic duct and the common bile duct was clearly depicted, including one with junctional anomaly. The intrahepatic biliary ducts and the confluence of the hepatic ducts were displayed from all angles. The third or higher intrahepatic branches were delineated in 11 of the 12 (92%) patients with the use of 100 ml of the cholangiographic agent and in seven of the 10 (70%) with 50 ml. CONCLUSION: Three-dimensional CT cholangiography was able to provide adequate information about precise biliary anatomy.     

A case of urinary stone in ureterocele extracted transurethrally after ESWL

A 66-year-old man was referred to our hospital with chief complaints of difficulty in urination and terminal micturition pain. Ureteroceles were identified bilaterally, and a ureteral stone (19 x 12 mm) existed in the right ureterocele. After crushing the stone by extra corporeal shock wave lithotripsy (ESWL), we removed the stone transurethrally with a small incision in the right ureterocele. The vesicoureteral reflux (VUR) was not detected postoperatively. Now, we recommend the combination of ESWL and a small transurethral incision of the urelerocele for the treatment of ureteral stones in a ureterocele in order to prevent postoperative VUR.     

Primary transitional cell carcinoma of prostate: a case report

A 67-year-old male was admitted with a three-month history of voiding difficulty. Prostate specific antigen remained within the normal limit. Under the diagnosis of benign prostatic hypertrophy, transurethral resection of prostate was performed. Pathological examination of the resected specimens of the prostate revealed transitional cell carcinoma. Two courses of systemic M-VAC (methotrexate, vinblastine, doxorubicin, cisplatin) chemotherapy were performed, followed by cystoprostatourethrectomy, pelvic lymphadenectomy, and ileal conduit construction. Now one year has elapsed, with no clinical signs of recurrence.     

The role of computed tomographic scanning in diagnosing mediastinal node involvement in non-small cell lung cancer

OBJECTIVES: The reliability of computed tomographic scanning in evaluating mediastinal node involvement is controversial because of the high false result rate. We attempted to identify significant factors responsible for false-positive and false-negative scans. METHODS: From August 1992 through April 1997, 401 patients with lung cancer who underwent major lung resection and systematic lymph node dissection were enrolled in this study. We retrospectively examined mediastinal node size, tumor location, maximum tumor dimension, the presence or absence of obstructive pneumonia, atelectasis, pulmonary fibrosis, and lymph node calcification on contrast-enhanced computed tomographic scans. We identified clinical and radiologic factors responsible for the false results by using univariate and multivariable analysis. RESULTS: Central tumor location proved to be a significant factor of false-positive scans. Elevated carcinoembryonic antigen level and larger tumor dimension were significant factors of false-negative scans. In patients with a peripheral tumor smaller than 40 mm and normal levels of serum carcinoembryonic antigen, sensitivity, specificity, positive predictive value, and negative predictive value were 6%, 93%, 8%, and 90%, respectively. The reliability of computed tomographic scanning in this low-risk subgroup was high in detecting N0-1 disease but low in diagnosing N2 disease. CONCLUSION: It is not possible to accurately diagnose N2 disease by using lymph node size on computed tomographic scanning alone, especially in patients with a central tumor, an elevated serum carcinoembryonic antigen level, or a tumor of 40 mm or larger. A preoperative invasive staging procedure is indicated in these populations and may not be indicated in the population with normal computed tomographic scan results without any of these risk factors.     

Neoadjuvant chemotherapy with cisplatin, aclacinomycin A, and mitomycin C for cervical adenocarcinoma – a preliminary study

Between 1989 and 2002, 28 patients with locally advanced cervical adenocarcinoma (bulky IB-IIIB) were recruited for a pilot study aimed at evaluation of the effectiveness of neoadjuvant chemotherapy with cisplatin, aclacinomycin-A, and mitomycin-C (PAM), followed by radical surgery. This regimen was administrated intra-arterially or intravenously. In addition to patients treated with PAM, we retrospectively analyzed the prognoses of 26 patients in stage I and II, who had been treated between 1975 and 1981 with radical surgery with/without radiation therapy. Twenty-eight patients received PAM therapy as neoadjuvant chemotherapy, and 75.0% of the 16 intra-arterially infused patients showed a response, as did 66.7% of the 12 intravenously infused patients. There was a significant difference in the 5-year prognosis of stage II (PAM group, 72.9%; without-PAM group, 36.4%). The results suggest that, as the free space in the parametrium is widened by neoadjuvant chemotherapy with PAM, it is possible that the tumor could be completely resected by radical hysterectomy. Thus, neoadjuvant chemotherapy with PAM is expected to improve the survival rate of patients with advanced cervical adenocarcinoma by the preliminary study. However, the survival rates of stage II with lymph node metastasis in the without-PAM group seem low, and we must also consider that the various technologies to evaluate and treat the cervical adenocarcinomas, e.g. computed tomography, magnetic resonance imaging, and surgical equipments, had improved during 1989-2002 than was the scenario during 1975-1981, and these improvements contributed to better prognosis. A prospective-randomized study is needed to assess the value of this approach compared with standard management.