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Biomedical subjects

C Y Chuang

Publications and source records attributed to C Y Chuang.

At least 37 records · Page 2Linked to original sources

Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation due to advanced maternal age revealed an unusual karyotype of 47,XY,+der(21)t(12;21)(p13.3;q21)mat. The pregnancy was terminated at 24 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, upward slanting palpebral fissures, epicanthic folds, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears with prominent anthelix and deep concha, broad hands with simian creases, a short neck, and cryptorchidism. The association of the involved chromosomal segments with the phenotype of Down's syndrome and trisomy 12p syndrome is discussed.

Adult↗

Measurement of synovial tumor necrosis factor-alpha in diagnosing emergency patients with bacterial arthritis.

Because of the high morbidity and mortality in patients with bacterial arthritis, rapidly and correctly diagnosing this critical condition is a challenge to emergency clinicians. Synovial fluid samples were obtained from 75 patients with arthritis disorders who presented to an emergency service, and levels of tumor necrosis factor-alpha (TNF-alpha), interleukin-1 beta (IL-1 beta), and interleukin-6 (IL-6) were measured. Twenty patients with culture-proven bacterial arthritis had higher levels of synovial TNF-alpha than patients with osteoarthritis or with inflammatory arthritis, including gouty arthritis, rheumatoid arthritis, reactive arthritis, and lupus arthritis. There was a good sensitivity for synovial TNF-alpha level in diagnosing patients with bacterial arthritis. Nearly 100% of patients with bacterial arthritis had elevated synovial TNF-alpha levels. However, synovial IL-1 beta and IL-6 levels failed to discriminate bacterial arthritis from other inflammatory arthritis. Measurement of synovial TNF-alpha level may be useful as a diagnostic aid in emergency patients with bacterial arthritis disorders.

Adult↗

Clinical and perinatal sonographic features of congenital adrenal cystic neuroblastoma: a case report with review of the literature.

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.

Adrenal Gland Neoplasms↗

Pregnancy with concomitant chorangioma and placental vascular malformation with mesenchymal hyperplasia.

We present two pregnancies associated with normal live births and the unusual concomitance of chorangioma and placental vascular malformation with mesenchymal hyperplasia. The enlarged placenta had the characteristic findings of chorangioma, dilated and varicose chorionic vessels and multiple vesicle-like villi containing hyaluronic acid. The vesicle-like villi showed diploid cellular DNA contents. Molecular genetic analysis using the polymerase chain reaction amplification of polymorphic microsatellite markers confirmed genetic identity among the chorangioma, the vesicle-like villi and the fetus. Both pregnancies were complicated by polyhydramnios, pre-term labour and prematurity. One neonate suffered from anaemia and thrombocytopenia. Another neonate suffered from haemangiomatosis. Our cases demonstrate that concomitant chorangioma and placental mesenchymal hyperplasia are genetically identical to the fetus and can coexist with a normal viable fetus. Since haemangiomas, chorangiomas, chorionic vessels and villi mesenchymal cells are all derived from the mesoderm, a combination of fetal haemangiomas, placental vascular malformation, chorangiomas and placental mesenchymal hyperplasia may represent a mixed form of congenital malformation of the mesoderm.

Adult↗

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

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.

Abnormalities, Multiple↗

CD69 to CD3 ratio of peripheral blood mononuclear cells as a marker to monitor systemic lupus erythematosus disease activity.

CD69 is an early T cell activation marker. In order to investigate whether the disease activity of systemic lupus erythematosus (SLE) is correlated with T cell hyperactivity as well as B cell hyperactivity, we measured the CD69 to CD3 ratio (CD69/CD3) of peripheral blood mononuclear cells (PBMCs) from 42 SLE patients and 18 healthy controls. To assess B cell activation, we measured the levels of anti-dsDNA, complement C3 and C4. Disease activity was assessed with the SLE disease activity index (SLEDAI) score. The mean value (+/- standard deviation) of CD69/CD3 for SLE patients (3.34 +/- 0.486) and healthy controls (0.92 +/- 0.015) were significantly different (P < 0.05). CD69/CD3, anti-dsDNA, C3 and C4 were all significantly correlated with SLEDAI (r = 0.50, 0.51, -0.68, -0.31, respectively, P < 0.05). CD69/CD3 could explain 25.4% of the variance in SLEDAI, and 6.7% of the variance that was independent of anti-dsDNA, C3 and C4. In patients with SLEDAI scores which were discordant with anti-dsDNA, C3 and C4 values, CD69/ CD3 still showed high correlation with SLEDAI. We conclude that CD69/CD3, which detects T cell activation is correlated with SLEDAI scores. Thus, T cell activation contributes part of the disease activity independent of B cell activity. This marker can complement in the estimation of disease activity when levels of anti-dsDNA, C3 and C4 fail to show good correlation.

Adult↗

Strategies for diagnosing HIV-1 infection in atypical Western blots.

The Western blot (WB) has long been used to confirm positive ELISAs for diagnosing HIV-1 infections. However, some WB patterns may result in "indeterminate" or controversial reports thus impeding early diagnoses or accurate diagnoses. The interpretation of HIV-1 WB has no "gold standard" criterion. Incomplete antibody profiles on WB strips can be interpreted as positive or indeterminate according to different criteria. The possibility of HIV-2 infection was further checked in these serum samples. However, no reactivity to synthetic peptide of HIV-2 gp36 had been found. Serial WB analyses are important for attaining early diagnoses of HIV-1 infections as well as for evaluating clinical stages. Temporal changes on WB patterns of serial serum samples provide the evidence of seroconversion in individuals with risk behaviours and indeterminate WB. In late stage of HIV-1 infection, the reactivity to gag, pol and env antigen groups may decrease and result in indeterminate WB. We propose to diagnose HIV-1 infection and to differentiate the infection of HIV-1 from HIV-2 in these cases by using nested polymerase chain reaction (PCR) to demonstrate the presence of HIV-1 specific vpu gene.

Acquired Immunodeficiency Syndrome↗

Autopsy findings on patients with AIDS in Taiwan.

At National Taiwan University Hospital, from 1986 to 1996, autopsies were performed on 16 patients with acquired immunodeficiency syndrome. There were 15 men and 1 woman. Fourteen of these male patients had contracted the disease as a result of sexual practice, among which 9 were homosexual, 1 was bisexual and 4 were heterosexual. One of the patients had become infected by sharing a syringe during intravenous drug use. The female was a sex worker. Among these patients, only 2 had been tested for HIV before developing AIDS. On autopsy, lymphoid depletion and thymus atrophy were found in all patients. Testicular atrophy was noted in all the male patients. Three patients died of malignant lymphoma. Twelve patients died of opportunistic infections and 1 committed suicide. The initial opportunistic infection was usually oral candidiasis. Pneumocystis carinii pneumonia (PCP) was the most common opportunistic infection developed in the early stage while cytomegalovirus (CMV) infection was the most common one found in the late stage. Mycobacterium infection had developed in 8 patients. Six patients had disseminated Kaposi's sarcoma (KS) and 4 of them were homosexual. In 4 patients, biopsy specimens were proved to have KS associated viral (HHV-8) genome. Malignant lymphoma was found in 4 cases, all were of high grade B cell type. Epstein-Barr virus (EBV) encoding small RNA (EBER1) was demonstrated in all the lymphomas. In conclusion, (1) the prevalence of tuberculosis (38%) in patients with AIDS in Taiwan is high; (2) the most common opportunistic infections in this series are candidiasis, PCP and CMV infections; (3) the incidence of AIDS related non-Hodgkin's lymphoma in Taiwan has increased since 1995.

AIDS-Related Opportunistic Infections↗

Microbiologic and histologic diagnosis of histoplasmosis in Taiwan.

Histoplasmosis is one of the most common opportunistic fungal infections in immunocompromised patients in endemic areas. We report the first two microbiologically documented cases of histoplasmosis in Taiwan. The first patient, with acquired immunodeficiency syndrome and a depleted CD4+ lymphocyte count, presented with a history of prolonged fever, papular skin rashes, pancytopenia and elevation of liver enzymes. He was diagnosed and treated initially for systemic toxoplasmosis, but the microbiologic and pathologic findings of the autopsied specimens disclosed disseminated infection caused by Histoplasma capsulatum. The second patient, an elderly man receiving corticosteroids for adrenal insufficiency, manifested with laryngeal histoplasmosis and was successfully treated with ketoconazole.

AIDS-Related Opportunistic Infections↗

Bacteremia caused by Helicobacter cinaedi in an AIDS patients.

Helicobacter cinaedi bacteremia has been infrequently described in homosexual patients with HIV infection. It may recur despite appropriate antimicrobial therapy. We report a bisexual patient with AIDS in whom H. cinaedi bacteremia developed and presented with prolonged fever and chronic diarrhea. The symptoms resolved without relapse after intravenous immunoglobulin therapy, which was administered for the treatment of concurrent parvovirus B19-associated anemia, and subsequent treatment with clarithromycin for 14 days.

AIDS-Related Opportunistic Infections↗

The study of circulating CD5 positive B lymphocytes in Chinese patients with rheumatoid arthritis.

Circulating CD5+ B lymphocytes were studied in 39 Chinese patients with rheumatoid arthritis (RA). Blood cells were stained with anti-CD5 and anti-CD19 monoclonal antibodies and were analyzed by flow cytometry. The results showed that there was no elevation of CD5+ B cells in RA patients when compared with 41 healthy control subjects. The circulating levels of CD5+ B cell correlated neither with serum titers of rheumatoid factor (RF) nor with disease activities in these patients. The CD5+ B cell levels remained relatively constant after a serial follow-up for 12 months. The similar pattern of epitope density of CD5 antigens also existed in the same patients. Although most studies in Caucasians revealed increased levels of CD5+ B cells in RA patients, measurements of this marker were not useful for the evaluation of disease activities in Chinese patients. Levels of CD5+ B cells may reflect more individual genetic background and may play a minor role in the flare-up of activities in Chinese patients with RA.

Adult↗

Elevated levels of anticardiolipin antibodies and epilepsy in lupus patients.

To examine the association between anticardiolipin (aCL) antibodies and epilepsy, we investigated the serum titers of aCL antibodies in a total 252 systemic lupus erythematosus (SLE) patients recruited in a prospective study. Twenty-one cases with epilepsy which were not attributable to any causes other than SLE were identified after being followed-up for five years. The clinical manifestations were recorded and blood samples were tested for the presence of aCL antibodies (IgG, IgM and IgA isotypes). Among 21 patients with epilepsy, 12 (57.1%), 2 (9.5%) and 2 (9.5%), respectively, had elevated baseline serum levels of IgG, IgM and IgA aCL antibodies. There was a dose-response relationship between risk of seizure and the baseline serum level of aCL antibodies (P < 0.01). The odds ratio of developing seizure were 3.7 for those who had a high level of aCL antibodies compared with those without a detectable level of aCL antibodies as the referent. Our results indicate that epilepsy as a primary neuropsychiatric event among lupus patients is associated with a high titer of aCL antibodies.

Adolescent↗

Clinical features of tuberculosis associated with HIV infection in Taiwan.

To understand the clinical characteristics and outcome of tuberculosis (TB) in patients with acquired immunodeficiency syndrome (AIDS) in Taiwan, we reviewed the medical records of 118 adult AIDS patients who were hospitalized at National Taiwan University Hospital between January 1988 and September 1995. Among them, 29 (24.6%) had TB. The mean age of the AIDS patients with TB was 37 years (range, 25-66 yr). Most patients were in the advanced stages of AIDS when human immunodeficiency virus (HIV) infection and/or TB were first diagnosed. The mean CD4+ lymphocyte count was 0.037 x 10(9)/L (range, 0-0.152 x 10(9)/L) at the time TB was diagnosed. There was no statistically significant difference in the mean CD4+ lymphocyte count between patients with isolated pulmonary TB and those with extrapulmonary involvement. Twenty-two patients (75.8%) had extrapulmonary TB with the most common site being the lymph nodes (72.7%). Clinical symptoms were nonspecific, and the chest physical examination was not helpful in the diagnosis. Acid-fast bacilli were detected in sputum smears from eight patients (36.4%). A primary tuberculosis pattern (hilar adenopathy, pleural effusion, middle or lower lobe infiltrates) in the chest radiographs was the most common radiologic finding (36.4%) in patients with pulmonary TB. The reactivation pattern (predominant upper-lobe infiltrates with or without cavitation) could only be found in cases of pulmonary TB without extrapulmonary involvement. Atypical patterns (diffuse interstitial infiltrates mimicking Pneumocystis carinii pneumonia or other patterns) and normal chest radiographs were noted in nearly one-third of the patients with pulmonary TB. A good response to antituberculosis drugs and a favorable outcome were demonstrated in the patients, except for two with drug-resistant Mycobacterium tuberculosis infection. Early identification of TB in HIV-infected patients requires clinical awareness of the unusual clinical presentations, especially among patients in the advanced stages of AIDS.

AIDS-Related Opportunistic Infections↗

Etiology of lymphadenopathy in patients with AIDS in Taiwan.

From 1986 to 1995, we retrospectively reviewed the records of 40 of 125 patients (32.0%) with acquired immunodeficiency syndrome (AIDS) who presented with extrainguinal lymphadenopathy. Most of the patients had an advanced stage of HIV infection with a mean CD4 lymphocyte count of 44/mm3. AIDS-defining opportunistic infections and malignancies were present in most patients and the neck region was the most common site of involvement. The etiology of lymphadenopathy was established in 26 patients. Tuberculous lymphadenitis was the most common cause, followed by lymphadenopathic Kaposi's sarcoma, benign reactive hyperplasia, cryptococcal lymphadenitis and disseminated Mycobacterium avium complex infection. Characteristic histopathologic findings were detected in 19 patients and 7 had presumptive tuberculous infections. The remaining 14 patients had no definitive etiology for their lymphadenopathy. As the causes are variable and the number of HIV/AIDS cases is increasing in Taiwan, more patients with lymphadenopathy, especially in the early stages of HIV infection will be encountered. Therefore, it is essential that diagnostic histopathologic and microbiologic studies be performed for appropriate and timely treatment.

Acquired Immunodeficiency Syndrome↗

Concomitant human immunodeficiency virus infection and syphilitic meningitis.

Syphilis has once again become a public health issue with the advent of human immunodeficiency virus (HIV) infection. We report a 28-year-old Chinese man with recently acquired HIV infection together with early neurosyphilis. His presentation of acute mononucleosis-like syndrome, lymphadenopathy, aseptic meningitis, positive central nervous syndrome and reactive Venereal Disease Research Laboratory test in his cerebrospinal fluid helped to reach the diagnosis. Paired serum Western blot tests for HIV infection performed 1 month apart revealed either a new appearance or an increasing intensity of bands for p17, p24, p31, gp41, p52, p55, p68, gp120 and gp160 suggesting recently acquired HIV infection. The lymphadenopathy disappeared spontaneously and the neurosyphilis responded well to 14 days of penicillin G therapy. The Western blot pattern, clinical course, laboratory data, and therapeutic response indicated that the acute retroviral syndrome and early central nervous system involvement caused by Treponema pallidum occurred concomitantly.

Adult↗