A 17-year-old girl developed vomiting of sudden onset, followed by a state of confusion that progressed rapidly to coma within one day. Laboratory tests indicated iron deficiency anemia and reactive thrombocytosis, but there was no evidence of coagulopathy. There was no history of medication including the contraceptive pill, either. Emergency CT scan without contrast enhancement showed increased density along the course of the vein of Galen and internal cerebral veins. A repeated CT scan without contrast enhancement carried out 24 hours after the onset of the illness confirmed extensive bilateral hypodensity of the thalami, basal ganglia and adjacent white matter. There was also a prominent spontaneous increase in the density of the deep cerebral venous system. MRI was performed 3 days after the onset of the illness, which showed absence of a flow void in the region of the internal cerebral veins and septal veins on T1-weighed images. T2-weighted images showed low intensity in these veins. At autopsy, the bilateral internal cerebral veins were occluded by fresh thrombosis and hemorrhagic infarction was seen in the bilateral thalami. 相似文献
To investigate the mechanism of the meiotic instability of expanded CAG
repeats in the gene for Machado-Joseph disease (MJD1), we analyzed the CAG
repeat sizes of 1036 single sperm from six individuals with Machado- Joseph
disease (MJD). The segregation ratio between single sperm with an expanded
allele and those with a normal allele is significantly different (P
<0.0001) from the expected 1:1 segregation ratio, which demonstrates
segregation distortion of expanded alleles in male meiosis. In single sperm
from individuals with the [expanded (CAG)n- CGG]/[normal (CAG)n-GGG]
genotype, significantly greater instability of the CAG repeat was observed
compared with single sperm from individuals with the [expanded
(CAG)n-CGG]/[normal (CAG)n-CGG] genotype (F-test, P <0.001). These
findings in single sperm confirm non-Mendelian transmission of the MJD1
gene and the effect of the intragenic CGG/GGG polymorphism on the
intergenerational instability of the CAG repeats in the MJD1 gene, which
have been observed in clinical and genetic studies. Our results indicate
similarities and dissimilarities between MJD and Huntington's disease or
myotonic dystrophy in terms of the inter-allelic interaction, segregation
distortions and size distribution of trinucleotide repeats in mutant
alleles. Further study is required to determine whether there is a common
mechanism underlying the instability of the triplet repeats in 'triplet
repeat diseases'.
相似文献
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative
disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at
14q32.1. To identify elements affecting the intergenerational instability
of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the
3' end of the CAG repeat affects intergenerational instability of the CAG
repeat. The [expanded (CAG)n-CGG]/[normal (CAG)n- GGG] haplotypes were
found to result in significantly greater instability of the CAG repeat
compared to the [expanded (CAG)n- CGG]/[normal (CAG)n-CGG] or [expanded
(CAG)nGGG]/[normal (CAG)n-GGG] haplotypes. Multiple stepwise logistic
regression analysis revealed that the relative risk for a large
intergenerational change in the number of CAG repeat units (< -2 or >
2) is 7.7-fold (95% CI: 2.5-23.9) higher in the case of paternal
transmission than in that of maternal transmission and 7.4-fold (95% CI:
2.4-23.3) higher in the case of transmission from a parent with the
[expanded (CAG)n-CGG]/[normal (CAG)n-GGG] haplotypes than in that of
transmission from a parent with the [expanded (CAG)n-CGG]/[normal
(CAG)n-CGG] or [expanded (CAG)n- GGG]/[normal (CAG)n-GGG] haplotypes. The
combination of paternal transmission and the [expanded (CAG)n-CGG]/[normal
(CAG)n-GGG] haplotypes resulted in a 75.2-fold (95% CI: 9.0-625.0) increase
in the relative risk compared with that of maternal transmission and the
[expanded (CAG)n-CGG]/[normal (CAG)n-CGG] or [expanded (CAG)n- GGG]/[normal
(CAG)n-GGG] haplotypes. The results suggest that an inter- allelic
interaction is involved in the intergenerational instability of the
expanded CAG repeat.
相似文献
We report a case of angiosarcoma of the breast and the autopsy findings. The patient was a 35-year-old premenopausal woman
who complained of a tumor in her left breast. We found a tumor measuring 55 mm in diameter in the lower external quadrant.
The tumor was elastic and soft, smooth surfaced, well-defined and mobile. Dimpling sign or change of skin color were not observed.
Clinically it was diagnosed as phyllodes tumor, but tumorectomy revealed primary angiosarcoma of the breast. Further extended
surgery was recommended, but the patient refused additional therapy. Histological findings revealed a free surgical margin
and neither lymph node metastasis nor distant metastasis were clinically observed. Seven months later, local recurrence in
the same breast was recognized and finally radical mastectomy was carried out. Histological findings showed recurrence of
angiosarcoma in the left breast but lymph node metastasis was not detected. Two months after mastectomy, metastases to the
cervical and thoracic vertebrae were observed and radiation therapy was performed. Sixteen months from onset, she died due
to multi-organ failure as general metastases of angiosarcoma. At autopsy, metastases to many organs including the digestive
system were observed. The incidence of primary angiosarcoma of the breast is low but its prognosis is poor. This case emphasized
the difficulties in clinical diagnosis and treatment for the angiosarcoma of the breast. 相似文献
Background. Exact clinical staging before treatment of esophageal cancer has become increasingly important in the evaluation and comparison of the results of different treatment modalities, including surgery, chemotherapy, and radiotherapy.
Methods. The accuracy of preoperative tumor staging by using an esophagography, esophagoscopy, percutaneous and endoscopic ultrasonography, and computed tomography was assessed in 224 patients with resectable esophageal cancer. The results of tumor staging by these tests were compared prospectively with the pathologic stage of the esophagectomy specimens with respect to the T and N categories defined by the International Union Against Cancer TNM classification.
Results. For the T category, the overall accuracy was 80%. For the N category, overall accuracy was 72%, with a sensitivity of 78%, a specificity of 60%, and a positive predictive value of 78%. Overall, the accuracy of stage grouping was 56%.
Conclusions. Either the T or N categories can be predicted reliably by clinical staging techniques. However, the preoperative stage grouping might not be valid in resectable, localized esophageal cancer. 相似文献
An extremely low birth weight (832 g) and 29 gestational week neonate underwent surgical ligation of patent ductus arterious 20 days after birth and repair of coarctation of the aorta two months after the first operation. She developed asphyxia neonatorum and was artificially ventilated because of IRDS and attack of apnea. At the first operation, anesthesia was maintained with fentanyl and sevoflurane. The only perioperative complication was severe hypothermia (34.5 degrees C). At the second operation, anesthesia maintenance was identical to the first operation. The only perioperative complication was mild hyperthermia (37.7 degrees C). The key points of anesthetic management were the use of a low inspired oxygen fraction to avoid retrolental fibroplasia at a gestational age before 32 weeks and management of the baby's temperature. 相似文献
Pseudomyxoma peritonei, which is the seeding of the peritoneum by mucin-secreting metastatic deposits and the filling of the peritoneal cavity by these secretions, is a malignancy that even after excision of the metastatic areas has a poor prognosis, since no effective therapy has yet been established. Herein, we report five cases of pseudomyxoma peritonei that responded to a combined postsurgical therapy consisting of CDDP, 5-FU and MMC. A 59-year-old women had a complete response who underwent an appendectomy, a right ovariectomy, and an omentectomy due to pseudomyxoma peritonei, and was postoperatively given a 50 mg intraperitoneal administration of CDDP. Further, a subcutaneous implant-type reservoir was positioned intraperitoneally for postoperative chemotherapy. At 14 days after surgery, therapy was begun which consisted of CDDP (70 mg/m2/day 1), 5-FU (350 mg/m2/day 1) and MMC (6 mg/m2/day 1) administered intraperitoneally, and 5-FU (350 mg/m2/day 1-3) that was continuously infused by an intravenous drip. She received 4 courses of postoperative chemotherapy. As a result of this therapy, the serum CEA values, which had elevated postoperatively, fell to within their respective normal ranges, and at 44 months postoperatively, this patient remains alive. Given the results above, intraperitoneal administrations of this combined CDDP, 5-FU, MMC therapy may be effective for patients with pseudomyxoma peritonei. 相似文献
We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene. 相似文献
We evaluated the safety and efficiency of using the mesh plug method (MP) to repair inguinal hernias in patients with a history of radical retropubic prostatectomy (RRP). We also investigated how RRP influences the development of inguinal hernias and impacts their repair.
Methods
Among 488 adult male patients who underwent inguinal hernia repair during a recent 5-year period, 37 had a history of RRP. We compared the characteristics and surgical outcomes of the patients who had undergone RRP (post-RRP group) with those who had not (non-RRP group).
Results
All post-RRP hernias were treated by MP. The 37 post-RRP patients had a collective 41 hernias, 40 of which were of the indirect type. The side affected by the hernia did not differ significantly between the groups. We compared the short-term surgical outcomes of the indirect post-RRP hernias vs. the indirect non-RPP hernias without recurrence and incarceration. The operation times, postoperative hospital stay, and mobility rates did not differ significantly between the two groups. The blood loss was almost equal in both groups.
Conclusion
Inguinal hernia repair after RRP may be difficult because of inflammatory changes in the preperitoneal cavity, but the surgical outcomes of MP were equivalent in patients with or without a history of RPP in this study. MP is a safe and effective method for post-RPP hernia repair. 相似文献