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Biomedical subjects

I T Yu

Publications and source records attributed to I T Yu.

At least 19 recordsLinked to original sources

Molecular analysis of mucosa-associated lymphoid tissue (MALT) lymphoma of ocular adnexa.

Lymphomas of mucosa-associated lymphoid tissue (MALT) are a distinct subgroup of extranodal B-cell non-Hodgkin's lymphomas. Most studies have failed to demonstrate the clonal rearrangement of BCL-1, BCL-2 or c-MYC genes for MALT lymphomas. Further, alteration of the p53 gene is rarely demonstrated in low-grade MALT lymphomas, but can be detected in high-grade disease. Lymphomas of the ocular adnexa represent approximately eight percent of all extranodal lymphomas, most of which are MALT lymphomas, but few studies had explored the alterations of BCL-1, BCL-2, c-MYC and p53 genes specifically for ocular MALT lymphomas. We investigated the changes to BCL-1, BCL-2, c-MYC and p53 genes in these lymphomas for Taiwanese patients. Clonal rearrangement for immunoglobulin heavy-chain (IgH), BCL-1, BCL-2, c-MYC and p53 genes was examined for 16 cases of ocular MALT lymphoma. Restriction-length polymorphism and polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) of the DNA, corresponding to exons 5 through 9, followed by DNA sequencing, were utilized to analyze the possible mutations of the p53 gene for these tumors. Thirteen of the cases revealed rearranged IgH genes using Southern blotting or PCR. No rearrangement of BCL-1, BCL-2, c-MYC or p53 genes was discovered, with point mutation of the p53 gene in one case. As for other types of MALT lymphomas, BCL-1, BCL-2 and c-MYC genes are not implicated in the pathogenesis of the ocular sub-group. Although alteration of the p53 gene is rare for low-grade ocular MALT lymphoma, its role in disease progression merits further research.

Adolescent↗

In vitro relaxation of rabbit and human internal anal sphincter by rutaecarpine, an alkaloid isolated from Evodia rutaecarpa.

Rutaecarpine, a compound extracted from the Chinese medicinal herb Evodia rutaecarpa, has been shown to possess relaxing action on vascular smooth muscle from rat thoracic aorta. The internal anal sphincter is a specialized smooth muscle regulating important anorectal physiology. To investigate the effect and underlying mechanisms of rutaecarpine on internal anal sphincter, muscle strips from rabbit internal anal sphincter were used. The results showed that rutaecarpine (1 x 10(-10) M to 1 x 10(-4) M) produced a concentration-dependent muscular relaxation effect in our preparations, which were precontracted with acetylcholine. This muscular relaxation effect was not affected by treatment with L-N(G)-nitro-arginine methyl ester (a nitric oxide synthase inhibitor), methylene blue (a guanylate cyclase inhibitor), N-ethylmaleimide (an adenylate cyclase inhibitor), or by removal of the mucosa and submucosa tissue. Pretreatment with nifedipine (a calcium channel blocker) or extracellular Ca+2 removal by ethylenediaminetetraacetic acid (EDTA) greatly attenuated the relaxation effect, suggesting that calcium ion might be involved. In experiments using strips from human internal anal sphincter, an even more prominent relaxation effect was shown. It is thus concluded that rutaecarpine caused relaxation on internal anal sphincter from rabbits and human subjects. The relaxation action was not related to NO-cGMP pathway, instead calcium ion might play an important role and shed insight into clinical implications for those anorectal disorders with hyperactive anal tone.

Acetylcholine↗

Lack of mutations of BCL6 and BCL10 genes in mucosa-associated lymphoid tissue lymphomas of the orbital adnexa.

Knowledge regarding the molecular pathogenesis and progression of mucosa-associated lymphoid tissue (MALT) lymphomas of ocular adnexa is limited. Eleven cases of ocular MALT lymphoma were analyzed by clonal rearrangement of antigen receptor genes using Southern blot hybridization. Polymerase chain reaction-single stranded conformational polymorphism analysis and DNA sequencing was utilized to analyze the mutations of BCL6 and BCL10 genes. Clonal rearrangement of immunoglobulin heavy genes was found in all 11 patients. No point mutation was found in BCL6 or BCL10 genes in any of the samples analyzed. We suggest that mutations of BCL6 and BCL10 genes are rare in low-grade MALT lymphoma of ocular adnexa and are unlikely to be involved in the pathogenesis of the disease. But the role of alterations of both BCL6 and BCL10 genes in the disease progression of low-grade MALT lymphoma require additional study.

Adaptor Proteins, Signal Transducing↗

Respiratory symptoms and pulmonary function in coal miners: looking into the effects of simple pneumoconiosis.

BACKGROUND: Although severe impairment of pulmonary function is believed to occur commonly in complicated pneumoconiosis, the relationships of simple coal workers' pneumoconiosis (CWP) to pulmonary function and respiratory symptoms have remained under debate. The study aims to investigate if simple pneumoconiosis is associated with significant impairment of pulmonary function and increased risk of respiratory symptoms. METHODS: Spirometry and diffusing capacity were performed in 205 miners with simple CWP and 289 without X ray evidence of pneumoconiosis, who were selected from a large underground coal mine in China. A questionnaire on occupational history and respiratory symptoms including breathlessness, chronic cough, and phlegm was administered. The presence or absence of emphysema on their X-ray films was also evaluated. Logistic regression and multiple linear regression analysis were applied to estimate the independent effect of CWP on respiratory symptoms and parameters of pulmonary function. RESULTS: On the average, the miners with CWP had lower values of pulmonary function and higher prevalences of respiratory symptoms, and emphysema than did those without. The simple CWP was associated with increased risk of the respiratory symptoms after adjusting for age, smoking, and years underground. Regression analysis showed that the CWP had significantly independent effects on parameters of pulmonary function. Even when the effects of emphysema, respiratory symptoms indicating chronic bronchitis were taken into consideration, the significant relationship between CWP and decrements in FVC and diffusing capacity remained. CONCLUSION: The findings of this study are consistent with simple CWP being a contributor to significant decrements in pulmonary function, and to increased risk of respiratory symptoms.

Adult↗

Genital tuberculosis with peritonitis mimicking Meigs' syndrome: a case report.

A 19-year-old girl presented with genital tuberculosis (TB) complicated with peritonitis and pleural effusion. In addition to oligomenorrhea, her initial presentation included symptoms of intermittent high fever, exertional dyspnea, productive cough and body weight loss. Acid-fast bacilli were identified by sputum culture. She continued to suffer from persistent abdominal discomfort and body weight loss after eight months of anti-TB treatment. Finally, exploratory laparotomy was performed under the suspicion of Meigs' syndrome or TB peritonitis. Operative findings included diffusely granulomatous change over the peritoneum, ovaries, endometrium, intestine and liver. Histologic examination of the ovaries and endometrium showed caseous necrosis associated with Langhan's giant cells and epithelial cells. Acid-fast stain revealed numerous acid-fast bacilli. She was discharged after two months of anti-TB treatment. Anti-TB therapy was continued for one year after discharge. During 3 years of post-discharge follow up, she was free of abdominal discomfort and had given birth to two healthy children.

Adult↗

DNA content of ovarian immature teratomas and malignant germ cell tumors.

OBJECTIVE: Ovarian germ cell tumors (GCT) show greater histologic and biologic heterogeneity than their testicular counterparts and remain poorly understood. Ploidy analysis was performed on ovarian GCT registered on Pediatric Oncology Group germ cell tumor protocols 9048 and 9049 to distinguish biologically distinct subsets of immature teratomas and malignant ovarian germ cell tumors. METHODS: Tumors from 22 patients (mean age 12 years) were analyzed and classified according to the submitting diagnosis; when pure samples of different histologic subtypes within a single tumor were possible, these were analyzed separately. Archival tissue was disaggregated and Feulgen stained; DNA index (DI) was determined by static image analysis utilizing internal normal cells as diploid controls. RESULTS: 26 histologic subtypes from 22 patients were analyzed. The tumors of 18 patients were composed of a single histologic subtype according to the submitting institution, including 6 dysgerminomas, 8 immature teratomas (IT), and 4 endodermal sinus tumors (EST). Two tumors contained both IT and EST components that were separately analyzed. Two tumors were classified as mixed germ cell tumors; 1 showed multiple intermingling subtypes unable to be separately analyzed and the second showed three histologic subtypes separately analyzed (IT, EST, embryonal carcinoma). From a total of 15 malignant histologic GCT subtypes in 14 patients, all but 2 demonstrated a DI of 1.4-2.4 (mean 1.85). Two diploid malignant GCT (1 EST, 1 dysgerminoma) were both associated with gonadoblastoma. Overall, 11 IT subtypes were analyzed and 9 were diploid (2 grade 1, 5 grade 2, and 2 grade 3). Two tumors originally submitted and classified as pure IT (grades 2 and 3) were aneuploid with a dominant diploid and a secondary aneuploid peak (both DI 1.7). On central review, both of these tumors demonstrated the presence of subtle patterns of EST that were unrecognized by the submitting institution and were much too small for separate analysis. Analysis of the 3 patients containing sufficient IT and EST to be separately analyzed all showed a diploid IT component and an aneuploid EST component. CONCLUSIONS: Analysis of ploidy data suggests that polyploidization is a consistent finding in malignant ovarian GCT arising in normal patients, similar to the data for adult testicular GCT. Immature teratomas in this pediatric population, however, are most commonly diploid, regardless of grade. The development of EST within an IT is associated with the development of an aneuploid clone. Therefore, the finding of such a clone in an IT may be of diagnostic utility, as EST may be difficult to recognize. Last, the development of a malignant GCT in patients with gonadal dysgenesis may be pathogenetically different from those arising in normal patients, in that polyploidization is not required.

Adolescent↗

Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study.

Fifty-five patients with atypical teratoid/rhabdoid tumors of the central nervous system were studied to define the clinical and pathologic features of this newly described neoplasm. The lesion occurred primarily in children younger than 2 (mean age at diagnosis, 17 months). The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat "rhabdoid" appearance, although rhabdoid features were not always prominent. Epithelioid features in the form of poorly formed glands or Flexner-Wintersteiner rosettes were noted in a minority of lesions. The neoplasms showed striking polyphenotypic immunoreactivity, including that for vimentin, glial fibrillary acidic protein, epithelial membrane antigen, cytokeratins, synaptophysin, chromogranin, and smooth muscle actin. Using a probe for chromosome 22, seven of eight scorable cases showed a solitary signal by fluorescence in situ hybridization (FISH) consistent with monosomy 22. The eighth scorable case showed three signals by fluorescence in situ hybridization and had a translocation involving chromosome 22 reported by conventional cytogenetics. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of the patients was uniformly poor. The mean postoperative survival of patients with atypical teratoid/rhabdoid tumors was only 11 months. Local recurrence, seeding of the cerebrospinal fluid pathways, or both, were common terminal events. This study underscores the distinctive clinical, histopathologic, immunohistochemical, and cytogenetic character of this unusually aggressive tumor.

Brain Neoplasms↗

Case report: life-threatening haematochezia from a jejunal leiomyoma.

Leiomyoma is a common benign intestinal tumour. Melaena is not rare in this tumour. Recently, rectal haematochezia has been considered as one of the very rare manifestations of leiomyoma. We report a case of jejunal leiomyoma showing life-threatening rectal bleeding. This 76-year-old man was admitted to hospital because of continuous rectal bleeding for 2 days. Haemorrhagic shock occurred and transfusion of 27 units of packed red blood cells failed to correct the shock. Emergent superior mesenteric angiography revealed a distal jejunal tumour showing evidence of active oozing. Segmental intestinal resection was performed to remove this jejunal tumour. Final pathological examination disclosed a jejunal leiomyoma with a ruptured artery responsible for the life-threatening bleeding. The patient recovered after tumour resection. Our presenting case was probably the second case of jejunal leiomyoma showing haematochezia. The diagnostic priority is discussed.

Aged↗

Trends of infant mortality in Hong Kong (1956-90) and evaluation of preventable infant deaths.

OBJECTIVE: This study describes the time trends for infant mortality in Hong Kong and aims to develop statistical models that can be used to predict changes of infant mortality in places already having low levels of infant mortality. METHODOLOGY: Data on births and deaths of infants in Hong Kong during the years 1956-90 were analysed annually as well as by aggregating the data into seven consecutive quinquennia. To assess the contribution of preventable infant deaths, causes for infant deaths were classified into two broad categories: (i) congenital anomalies; and (ii) preventable diseases. A simple linear regression model was used to analyse the time trend of the mortality rate of the preventable diseases (PIMR) over the seven quinquennia. RESULTS: During the period 1956-90, the infant mortality rate fell from 60.9 in 1956-5.9 per 1000 in 1990 and the neonatal mortality rate fell from 24.2-3.8 per 1000. There was no clear time trend observed for infant mortality of congenital anomalies. However, the time trend for PIMR (log scale) was very close to a straight line and simple linear regression modelling showed a R2 of 0.9970. CONCLUSION: As the infant mortality rate (IMR) falls to below 30 per 1000, the further rate of decrease becomes less predictable from the regression model of the IMR. By removing the portion of deaths attributable to congenital anomalies, the further decrease in infant mortality became more predictable down to very low levels of IMR.

Cause of Death↗

Genotypic characterization and multivariate survival analysis of chronic lymphocytic leukemia in Taiwan.

In Taiwan, as in other areas of Asia, the incidence of chronic lymphocytic leukemia (CLL) is low. A retrospective analysis was conducted to elucidate the clinicopathologic features of CLL patients in Taiwan. Of the 47 cases of CLL enrolled in this study, 45 were immunophenotyped as B-CLL; the other 2 were T-CLL. It was found that the lower the Binet and Rai stages of the B-CLL, the longer patients survive (p = 0.0131 and 0.0142, respectively). Univariate analysis showed that fatigue, splenomegaly, hepatomegaly and anemia are associated with poor survival with p values of 0.0203, 0.0184, 0.0001 and 0.171, respectively. By multivariate analysis with Cox's proportional hazard model, hepatomegaly and decrease in body weight were the two most significant predictors of survival. However, molecular parameters of kappa or lambda immunoglobulin (Ig) gene rearrangement or double allele rearrangement of Ig gene did not significantly increase the predictability of the prognosis.

Adult↗

Truncus arteriosus malformation: a developmental arrest at Carnegie stage 14.

The pathogenesis of truncus arteriosus malformation has been ascribed to deficiency of conotruncal ridges, failure to form a pulmonary conus, absence of the aortopulmonary septum, or hemodynamic factors. To re-examine this issue, we reviewed the morphology of 28 hearts with truncus arteriosus malformation and compared the findings to the sequences of cardiogenesis in 351 normal human embryos of the Carnegie Embryological Collection. All malformed hearts had an absent muscular outflow tract (conal) septum. The truncal valve had four commissures and/or raphes, a fused commissure, in seven cases, three in 20, and uncertain status in one. All but one heart had fibrous continuity between the anterior mitral leaflet and the truncal valve. In embryos, the outflow tract was circular and lined by a layer of cardiac jelly early in Carnegie stage 14 but acquired an elliptical configuration and four cushions, with fusion of the two larger, by stage 16. Semilunar valve leaflets form at the downstream end of the cushions. The more frequent occurrence of three rather than four commissures in the truncal valve associated with absence of a conal septum suggests that the embryonic outflow tract failed to acquire an elliptical shape and cushions that could fuse to subdivide the outflow tract and the semilunar valves anatomically. The presence of truncal valve leaflets shows that three or four cushions did form and the usual presence of mitral-truncal valve fibrous continuity supports otherwise normal outflow tract development. We conclude that a failure or delay of the circular outflow tract of early Carnegie stage 14 to acquire the elliptical configuration needed to induce formation of four cushions, two of which fuse to subdivide the outflow tract and semilunar valve primordia, is the cause of truncus arteriosus malformation.

Adolescent↗

Trisomy 21 in acute myeloid leukemia.

We report two cases of acute myeloid leukemia (AML), constitutionally normal, with trisomy 21. Trisomy 21 does not often occur as a sole numerical karyotypic abnormality in AML leukemia. The possible prognostic significance of the finding in acute leukemia is discussed.

Adult↗

Musculoskeletal problems among VDU workers in a Hong Kong bank.

A survey of musculoskeletal problems among visual display unit (VDU) users was carried out in a bank using a self-administered questionnaire. The prevalence of complaints in various body parts were: neck--31.4%, back 30.6%, shoulder--16.5%, hand and wrist--14.9% and arm--6.6%. Frequent users of VDU had significantly more musculoskeletal problems in the neck and shoulder regions than infrequent users. Individual musculoskeltal complaints were associated with various risk factors including personal attributes, working posture, repetitive movements and work station design. Back, neck and shoulder problems were more related to unfavourable working postures, white arm, hand and wrist problems were more affected by repetitive movements. Some risk factors for musculoskeletal problems were specifically related to the nature or design of VDU work. Modification of the workstation design and improvement in work organization should be able to reduce the prevalence of these disorders.

Adolescent↗

Extremely long-term survival of chronic myelogenous leukemia in a male with absence of the Y chromosome.

A male patient survived for 15 years after the diagnosis of chronic myelogenous leukemia (CML) without bone marrow transplantation (BMT). He had initially received busulfan for eight months with an excellent response, then had been without any treatment for 13 years. During that long period, the white blood cell count kept around 10,000/microL and the spleen was not enlarged. The cytogenetic study revealed Philadelphia chromosome (Ph) in the blood cells with the absence of Y chromosome. Some authors have suggested that the absence of Y chromosome in Ph (+) bone marrow cells of male CML patients is often associated with a benign course. Our patient with this kind of cytogenetic abnormality survived for 15 years. This is, to the best of our knowledge, the second longest record of survival among CML patients in English literature. Relevant literature about chromosomal abnormalities and their influence on prognosis of CML is reviewed.

Chromosome Aberrations↗

Ideas in pathology. Whose tumor is this? FISHing for the answer.

Errors in tissue handling and accessioning during procurement as well as in the laboratory occasionally occur; rarely these errors may result in specimen misidentification and therefore misdiagnosis. Tissue "pick-ups" or "floaters" are difficult to avoid in large, busy histology laboratories. While misidentification problems can usually be sorted out based on clinical history, they are occasionally problematic. We report two misidentified cases that presented to the Gastrointestinal Pathology Division at the Johns Hopkins Hospital and a novel method that was used to correctly solve the problem.

Adenocarcinoma↗

Numerical sex chromosomal abnormalities in pineal teratomas by cytogenetic analysis and fluorescence in situ hybridization.

BACKGROUND: Central nervous system teratomas are a rare subgroup of extragonadal germ cell tumors. Previous studies show ovarian mature teratomas to be karyotypically normal; those with increasing immaturity show increasing cytogenetic abnormalities. Adult testicular teratomas, regardless of maturity, most often show the i sochromosome 12p, a consistent chromosomal abnormality seen in adult testicular germ cell tumors. This study investigates the cytogenetic abnormalities of six central nervous system teratomas by the use of routine karyotypic analysis and fluorescence in situ hybridization. EXPERIMENTAL DESIGN: Karyotypic analysis was performed on two tumors. Four additional tumors were analyzed by dual-labeled fluorescence in situ hybridization. Paraffin blocks were disaggregated, and nuclei were hybridized with both biotin- and digoxigenin-labeled probes to the centromeric domains of the X and Y chromosomes, respectively. Tumor cells were scored for X and Y copy number. Tumor ploidy was determined by image analysis of the disaggregated specimens. RESULTS: The patients (five male, one female) ranged from 2 to 25 years of age. All presented with a solitary mass in the suprasellar region. A mature teratoma was 48, XXYY; an immature teratoma was 47, XXY, dir dup 11 (q12-22). Lymphocyte analysis of the second patient showed a normal constitutional karyotype. Fluorescence in situ hybridization analysis of four additional patients showed both one mature and one immature teratoma from male hosts to have 2X and 1Y signals in the majority of the cells. An immature teratoma from a male host showed 2X and 2Y signals. The above three tumors were diploid by static image analysis. An immature teratoma from a female host showed multiple (four to six) X signals in more than 70% of the cells. Ploidy analysis was unavailable for this case. CONCLUSIONS: Although patients with Klinefelter syndrome (47,XXY) and patients with 46,XY gonadal dysgenesis show an increased incidence of germ cell tumors, numerical sex chromosomal abnormalities have not been described in extragonadal teratomas. Our results support a role for sex chromosomes in the development of central nervous system teratomas.

Adult↗

Congenital cerebral primitive neuroectodermal tumor with astrocytic differentiation and extracranial metastases.

A cerebral primitive neuroectodermal tumor with astrocytic differentiation and extracranial metastases in a 28-day-old infant is reported. The infant presented with a progressively enlarged head, cutaneous lesions in the neck, and enlarged cervical lymph nodes. A computed tomography brain scan demonstrated a giant thalamic tumor with subarachnoid dissemination and hydrocephalus. Biopsy material from the cervical lesions showed a picture of glioma with anaplastic astrocytes. The patient received a ventriculoperitoneal shunt operation and palliative chemotherapy, but died at 3 months of age. Autopsy was performed. Histological studies, which included immunohistochemical stains of the thalamic tumor, showed small, round, primitive, neoplastic cells with focal astrocytic differentiation.

Astrocytes↗