[show abstract][hide abstract] ABSTRACT: The MR imaging findings of a leiomyosarcoma arising from the nasopharynx are presented. To our knowledge, this is the first MR imaging description of this entity.
American Journal of Neuroradiology 09/2007; 28(7):1373-4. · 3.17 Impact Factor
[show abstract][hide abstract] ABSTRACT: There is little information about MPS I-related complications during laronidase therapy. We describe the first autopsy report of a young male MPS I patient who died of infection-induced cardiopulmonary failure following 2 years of weekly treatment with laronidase.
[show abstract][hide abstract] ABSTRACT: The role of the DNA double-strand-break (DSB) checkpoint/repair genes, ATM, BRCA1 and TP53, in sporadic breast cancer requires clarification, since ATM and BRCA1 mutations are rare in sporadic tumours. In an attempt to explain this phenomenon, we postulated that (i) in addition to genetic deletion, abnormal expression of DSB checkpoint/repair proteins might abolish the function of these genes and (ii) there might be a combined effect of individual defective genes during breast cancer pathogenesis. Using a largely homogenous group of 74 specimens of early-onset (< or =35 years of age) infiltrating ductal carcinomas, we examined associations between pathological grade and genetic deletion and/or abnormal protein expression of ATM, BRCA1 and TP53. The results showed that high-grade tumours displayed a high frequency of loss of heterozygosity (LOH) at, and/or abnormal expression of, ATM, BRCA1 and TP53. Multigenetic analysis showed abnormalities in BRCA1 to be independently associated with high-grade tumours. ATM and TP53 appeared to play an assistant role, abnormalities in these genes significantly increasing the possibility of poor differentiation in tumours with abnormalities in BRCA1. Furthermore, a higher number of abnormalities (LOH or abnormal expression) in these three genes correlated with poor tumour differentiation. Thus, this study suggests that combined changes in several DSB checkpoint/repair genes belonging to a common functional pathway are associated with breast cancer pathogenesis.
British Journal of Cancer 06/2004; 90(10):1995-2001. · 5.08 Impact Factor
[show abstract][hide abstract] ABSTRACT: Nephropathy caused by mitochondrial disorders is a relatively newly recognized disease. Only a few cases have been reported in the literature, and most of them are proximal tubulopathy-presenting Fanconi syndrome. Here we report on a novel mutation in two familial cases of tubulointerstitial nephropathy associated with concentrating defect.
Renal biopsy specimens were examined by light microscopy and electron microscopy. Mitochondrial genomic DNA isolated from renal biopsy specimens was amplified by polymerase chain reaction (PCR) and sequenced in its entirety. The DNA sequences were analyzed by (1) comparing with the Anderson et al's mitochondrial sequences; (2) comparing with DNA sequences obtained from 97 human controls, including both healthy individuals and patients with renal diseases; and (3) comparing with the counterparts in 90 different species.
Dismorphic mitochondria with occasional intramitochondrial inclusions were found in the renal tubular epithelial cells. A novel mitochondrial point mutation was identified at the position 608, that is, the distal end of the anticodon stem of the tRNA(Phe) molecule. The A to G substitution at this position was not observed in 97 human controls and was found to be highly conserved in evolution.
We have identified an A608G mutation of mitochondrial genome in two cases whose presentation include tubulointerstitial nephritis and stroke.
Kidney International 04/2001; 59(3):846-54. · 7.92 Impact Factor
[show abstract][hide abstract] ABSTRACT: Mutant p53 gene has lost its tumor suppression function and is considered to be a very important step in hepatocellular carcinoma development. We propose that the mutant p53 gene plays a role in its invasiveness and prognosis after resection.
A case-controlled study.
A referral center.
Seventy-nine consecutive patients who underwent surgical resection for hepatocellular carcinoma entered this study.
Tissue sections of resected hepatocellular carcinoma (deparaffinized and rehydrated from formalin-fixed and paraffin-embedded sections) were incubated with antihuman p53 monoclonal antibody and immunostained. The p53 result was scored without prior knowledge of the patients' status. A 10% immunopositivity was regarded as the threshold value.
The immunopositive rate of p53 was 69.6% (55 of 79 patients). The clinical variables (age, sex, associated liver cirrhosis, hepatitis B virus infection, hepatitis C virus infection, serum alpha-fetoprotein, and Child-Pugh class); the histological variables (size, capsule, vascular permeation; grade of differentiation, and multinodularity); and postoperative course (recurrence, tumor-free interval, death, and survival period) were correlated with p53 immunopositivity.
From univariate analysis, more patients with p53 positivity were male (92.7 vs 0%) (P<.001); had vascular permeation (80% vs 50%) (P =.007) (odds ratio [OR], 4.0); no complete capsule (83.6% vs 62.5%) (P =.04) (OR, 3.1); and daughter nodules (90.9% vs 70.8%) (P =.04) (OR, 4.1) than patients with negative p53 staining. From multivariate analysis, only sex and vascular permeation remained significant (P =.001 and P =.008, respectively). Although more patients with p53 positivity had tumor recurrence (78% vs 50%) (P =.01) and death (64% vs 33%) (P =. 01), the Cox proportional hazards model showed that p53 overexpression had only weak correlations with tumor-free interval and survival time (P =.09 and P =.08, respectively).
Our results show that the biological behavior of the mutant p53 gene is strongly related to the invasiveness of hepatocellular carcinoma and may also influence the postoperative course. We suggest that the immunopositivity of the mutant p53 gene has a predictive role in the prognosis of patients with resected hepatocellular carcinoma.
Archives of Surgery 11/2000; 135(11):1329-33. · 4.10 Impact Factor
[show abstract][hide abstract] ABSTRACT: Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. This results in the accumulation of abnormal glycogen in the liver and other organs. We report the case of a 14-month-old female patient with typical hepatic pathologic findings of GSD-IV. The patient suffered from decreased muscle tone and progressive hepatosplenomegaly since birth. A wedge biopsy of the liver showed enlarged hepatocytes with colorless to faintly eosinophilic ground glass intracytoplasmic inclusions. Portal fibrosis and lobular, fibrous septa were present. Ultrastructure of the inclusions revealed non-membrane-bound fibrillar material 5 nm in maximal diameter. Enzyme study revealed a total deficiency of GBE activity.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed 11/1999; 62(10):743-7.
[show abstract][hide abstract] ABSTRACT: Gastro-intestinal bleeding is an uncommon presentation in children with neurofibromatosis. Gastro-intestinal involvement caused by jejunal leiomyoma has only been described in adults. To the best of our knowledge, this is the first paediatric case of jejunal leiomyoma associated with neurofibromatosis. We present a 10-year-old girl with a 9-month history of anaemia and low gastro-intestinal bleeding. Abdominal sonography and small bowel series showed a submucosal mass in the proximal jejunum. On surgery, a submucosal tumour was excised and histological examination suggested a diagnosis of "smooth muscle tumour of undetermined malignant potential". There were no recurrence of symptoms for 4 years after the operation. CONCLUSION: Jejunal leiomyoma should be considered in a child with neurofibromatosis presenting with gastro-intestinal bleeding.
European Journal of Pediatrics 07/1999; 158(6):460-2. · 1.91 Impact Factor
[show abstract][hide abstract] ABSTRACT: Alveolar rhabdomyosarcoma (RMS) is associated with a characteristic chromosomal translocation t(2;13)(q35;q14). The genes involved in this translocation are paired box (PAX)3 on chromosome 2 and forkhead in RMS (FKHR) on chromosome 13. An occasional variant translocation t(1;13)(p36;q14) affecting PAX7 and FKHR on chromosomes 1 and 13, respectively, has also been described. Chromosomal translocations in RMS are detected using conventional cytogenetic analysis, fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction (RT-PCR) on fresh or frozen tissue samples. We describe the results of RT-PCR analysis of PAX3-FKHR and PAX7-FKHR chimeric messages in formalin-fixed, paraffin-embedded tissue samples from 17 RMS cases.
RNA was extracted from formalin-fixed, paraffin-embedded RMS tissue. Oligonucleotide primers corresponding to the regions of PAX3, PAX7 and FKHR were used for the detection of PAX3-FKHR and PAX7-FKHR chimeric messages. A seminested PCR of the PCR products was used to increase the sensitivity of detection. The amplified fragments were purified and directly sequenced to confirm the specificity of the methods.
The PAX3-FKHR chimeric message was detected in all three cases of alveolar RMS but not in any of the 12 embryonal and two pleomorphic RMS cases. The PAX7-FKHR fusion transcript was detected in one case of embryonal RMS.
The results indicate that the RT-PCR assay is a reliable method for the detection of the PAX3-FKHR fusion transcript of alveolar RMS in formalin-fixed, paraffin-embedded tissue. This simple method enables pathologists to identify chromosomal rearrangements in RMS as a diagnostic aid in cases where fresh or frozen tissue is not available.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed 03/1999; 62(2):86-91.
[show abstract][hide abstract] ABSTRACT: We describe perinatal findings in a female fetus with partial trisomy 8q(8q24.1-->8qter) and partial monosomy 15q(15q26.1-->15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation. At birth, the infant manifested typical dysmorphic features of partial trisomy 8q. Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis. Our case shows that the coexistence of partial trisomy 8q24.1-->8qter and partial monosomy 15q26.1-->15qter are more detrimental than either defect alone and can result in a complex of major malformations. Prenatal ultrasound examination and cytogenetic assessment should be offered in subsequent pregnancies.
[show abstract][hide abstract] ABSTRACT: In case of hepatocellular carcinoma (HCC), the gallbladder is less frequently involved and metastasis to the gallbladder, together with its significant clinical manifestations, is rarely discussed in the literature in detail. HCC with metastasis to the gallbladder, initially presenting as gallbladder intraluminal hemorrhage and perforation, has not been previously reported. We present a case of HCC disclosed by emergency cholecystectomy for hemocholecyst with perforation. Evaluation of the possible metastatic mechanisms is also discussed.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed 11/1998; 61(10):613-8.
[show abstract][hide abstract] ABSTRACT: In contrast to other types of cervical adenocarcinoma, well-differentiated papillary villoglandular adenocarcinoma of the uterine cervix is unique for its tendency to develop in young women and its excellent prognosis. Until now, no tumor recurrence has been reported in the English literature following surgical treatment that varies from conization to radical hysterectomy. We report a case of 47-year-old female who presented with postcoital bleeding and was treated by radical hysterectomy for FIGO (International Federation of Gynecologists and Obstetricians) Stage Ib cervical carcinoma, in which the preoperative cervical biopsy diagnosis was adenocarcinoma. The patient was well at follow-up nine months after surgery. A literature review including treatment implications is presented.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed 08/1998; 61(7):436-40.
[show abstract][hide abstract] ABSTRACT: Mesenchymal hamartoma of the liver (MHL) is a rare lesion occurring mainly in infants and children. It is often misdiagnosed clinically as a malignant tumor because of its rapid increase in size within a short period of time, or as a hepatic cyst or abscess because of its cystic appearance. Although a benign lesion, MHL may cause heart failure, due to arteriovenous shunts, or death if untreated, as a result of respiratory complications. A typical case of MHL was recently encountered in a 15-month-old boy. The patient presented with progressive abdominal distension; surgery revealed a large mass arising from the right lobe of the liver. The mass was predominantly solid, but collections of fluid were also present. Loose mesenchymal tissue and branched, tortuous bile ducts were the key diagnostic features. When predominantly cystic, MHL may mimic a lymphangioma both grossly and microscopically. Prudent examination of the cystic structures can establish a correct diagnosis.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed 08/1998; 61(7):427-31.
[show abstract][hide abstract] ABSTRACT: We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.
Journal of Medical Genetics 10/1997; 34(9):777-8. · 5.70 Impact Factor
[show abstract][hide abstract] ABSTRACT: Cystic formation in association with adrenal neuroblastoma may be related to hemorrhage and necrosis of the tumor. We present an unusual case of congenital cystic fetal neuroblastoma of the right adrenal gland detected at 37 weeks' gestation which evolved into a complex echogenic mass 6 weeks after birth. Surgical exploration revealed a 3.5 x 3 x 3 cm right complex adrenal tumor which was resected. The infant did well 10 weeks after tumor resection. Typically adrenal hemorrhage may appear sonographically to be entirely echogenic, of mixed echogenicity, or anechoic when first imaged. Gradually, the texture of the hematoma will evolve and become more cystic and echolucent on follow-up ultrasound examinations. In contrast, our case of congenital adrenal cystic neuroblastoma became more complex after resolution of the hemorrhagic cyst. This case suggests that adrenal hemorrhagic and adrenal cystic neuroblastoma with a hemorrhagic cyst have different sonographic appearances. We suggest that additional imaging and surgical intervention should be considered whenever a cystic suprarenal mass becomes more complex after resolution and demonstrates no significant decrease in size in postnatal examinations.
Ultrasound in Obstetrics and Gynecology 08/1997; 10(1):68-73. · 3.56 Impact Factor
[show abstract][hide abstract] ABSTRACT: We report a case of cephalothoracopagus janiceps monosymmetros that was diagnosed prenatally by ultrasound at 23 weeks' gestation. Obstetric ultrasound demonstrated conjoined female twins with a single fused cranial vault irregular in contour, duplicated cerebra, one face, two eyeballs, a fused thorax, two hearts, two thoracic spines, eight limbs, and polyhydramnios. The pregnancy was terminated and all the features described prenatally were observed at necropsy. The asymmetrical fused faces consisted of a ventral humanoid face with micrognathia, microphthalmia, low-set ears, a normal nose, and an opposite reduced face with partial facial features of a central narrowed fissure and paired synotic ears. The conjoined twins had fused umbilical cords, omphalocoele, and a single oesophagus, stomach, and duodenum, but duplicated pancreases, spleens, and central nervous, cardiopulmonary, hepatic, and genito-urinary systems. The common gastrointestinal tract bifurcated at the level of the jejunum. Our case documents a very uncommon variety of asymmetrical cephalothoracopagus janiceps with duplicated central nervous systems.