Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto undescribed: Val37Met, Glu57His, Arg142Glu, Val177Ala. X-linked CMT sometimes lacks evidence for X-linked transmission and cannot be differentiated from CMT type 2, especially in females with mildly decreased nerve conduction velocity. Therefore, molecular analysis is useful for molecular pathology of their disease. Am. J. Med. Genet. 80:352–355, 1998. © 1998 Wiley-Liss, Inc.     

A case report of BK virus nephropathy after an ABO-incompatible living kidney transplantation

We present a case of 29-year-old female who underwent an ABO-incompatible living kidney transplantation from her father. The serum creatinine (s-Cr) level of this patient was stabilized about 1.1-1.2 mg/dl during the first 3 months after the transplantation. Thereafter, the function of allograft was deteriorated gradually. A biopsy performed on post-transplant day (PTD) 520 to evaluate a rise in creatinine revealed an interstitial nephritis and chronic renal allograft nephropathy. The renal function worsened persistently, although we increased the dosage of immunosuppressant subsequently. The following biopsy performed on PTD 630 showed a suspicion of BK virus nephropathy, with a mass of tubular epithelial nuclear inclusions and an interstitial nephritis. The diagnosis of BK virus nephropathy was confirmed on the immunohistochemistry staining using anti-SV40 antibody and PCR analysis. Despite reducing the immunosuppressants, the function of the allograft worsened progressively and was lost on PTD 912.     

Reversible Magnetic Resonance Imaging Lesions in Wilson's Disease: Clinical-Anatomical Correlation

Described herein is a patient with Wilson's disease who had tremor as a prominent neurological manifestation. T2-weighted magnetic resonance imaging showed abnormal high signal intensities in the bilateral lenticular nuclei, thalami, and red nuclei of the midbrain. Improvement of tremor with copper chelating agents was well correlated with a decrease of the abnormal signals in the thalami and the red nuclei.     

Necessity of preoperative screening for brain metastasis in non-small cell lung cancer patients without lymph node metastasis.

BACKGROUND: The exclusion of brain metastasis is important to determine the optimal treatment plan in patients with non-small cell lung cancer (NSCLC). However, a routine examination using magnetic resonance imaging (MRI) for the brain remains controversial in preoperative patients with resectable disease. METHODS: To assess the necessity of routine brain MRI for preoperative patients, a retrospective analysis for a consecutive series of 338 patients with NSCLC was performed. Among the 338 patients, 141 patients who were considered to have potentially resectable diseases through an examination of the chest plus an upper abdominal computed tomography scan and bone radioisotope scan with no neurological symptoms received MRI for examination of brain metastasis. RESULTS: The incidence of brain metastasis detected by MRI was 2.1% (three of 141) in all patients, 0% (zero of 80) in patients with N0 disease, 5.2% (one of 19) in N1, and 4.7% (two of 42) in N2 cases. CONCLUSION: In patients with resectable NSCLC, a brain MRI is not considered to be useful due to the low incidence of asymptomatic brain metastasis.     

Pregnancy after renal transplantation: A single-center experience

Objectives:   To examine women with renal transplants who became pregnant, and delivered at our hospital.
Methods:   Twenty-six women who had undergone renal transplantation between 1977 and 2002 became pregnant, and delivered at Osaka University Hospital. Complete medical records of twenty of them were retrieved and retrospectively analyzed.
Results:   Overall, twenty-nine pregnancies occurred in these twenty women after renal transplantation. There were spontaneous abortions in three cases, whereas pregnancy was artificially terminated five times. Thus, neonates were delivered in 21 of 29 pregnancies. One woman delivered twice and two women delivered twins. As a result, a total of 23 neonates were delivered. Mean gestational period was 35.4 weeks (range, 27–41 weeks), and mean birth weight was 2229 g (range, 724–3544 g). Regarding fetal complications, intrauterine growth retardation was observed in three cases. One child with intrauterine growth retardation died at 3 months old due to respiratory distress syndrome. One child displayed double-outlet right ventricle and another child had congenital unilateral hydronephrosis. Regarding maternal complications, prevalence of toxemia of pregnancy was 38.1%. In four of the 21 deliveries (19.0%), renal function exacerbated after delivery. Rates of graft survival for the 20 women at 1, 5 and 10 years after delivery were 100%, 85.1% and 74.4%, respectively. Prognosis for renal transplant resulted to be significantly poorer for recipients with hypertension before pregnancy than for recipients without hypertension before pregnancy (log-rank test, P  = 0.043).
Conclusions:   Rates of graft survival after delivery were mostly favorable. However, prognosis for renal function was poorer for recipients who displayed hypertension prior to pregnancy.     

Plate-rack as a pillow for endotracheal intubation

Since we began to use a plate-rack as a pillow for adult endotracheal intubation, we can intubate more smoothly than we did with a circular sponge-made pillow previously. A pillow for endotracheal intubation must have two characteristics for smooth endotracheal intubation. First, it must be able to establish patient's head position suitable for endotracheal intubation. Second, it must not permit patient's head and neck to move at the time of endotracheal intubation. And it must be set to patient's head comfortably. This plate-rack can answer all of them. Particularly, we can do endotracheal intubation without neck extension, with patient's head on the upper horizontal bar of the plate-rack. Neck extension might cause worse visualization of the vocal cord and cervical spinal cord injury.     

Randomized controlled trials in Japan--lung cancer

Randomized controlled trials conducted in Japan were reviewed. Using PubMed, 12 papers published after 1990 were selected. Six papers presented at the annual meeting of the American Society of Clinical Oncology from 1999 to 2002 were also added for use in this review. According to the results of those trials, cisplatin plus either irinotecan or docetaxel for advanced non-small cell lung cancer, cisplatin plus irinotecan for small cell lung cancer and concurrent chemoradiotherapy for a localized disease of both small and non-small cell lung cancers have been established as standard treatments. No adjuvant treatment method for resected patients has been proved to be sufficiently effective.