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Biomedical subjects

S F Huang

Publications and source records attributed to S F Huang.

At least 37 records · Page 2Linked to original sources
PubMed2000

Congenital interstitial cell of cajal hyperplasia with neuronal intestinal dysplasia.

Interstitial cells of Cajal (ICCs) are intestinal pacemaker cells that initiate peristalsis in the stomach and intestine, and are considered to be precursors of gastrointestinal stromal tumors (GISTs). We report a 2-year-old girl who suffered from scanty stool passage since birth. On barium enema, the distal colon was rigid with narrow lumen, whereas the proximal colon was dilated and atonic. She received right hemicolectomy and ileostomy. Histopathologically, there was continuous proliferation of spindle cells located between the layers of the muscularis propria throughout the right colon. These spindle cells were positive for c-kit and CD34 but negative for myogenic or neurogenic markers, indicating they are ICCs. No germline or somatic mutation of the juxtamembrane domain of c-kit gene was detected. In addition, the changes of the submucosal plexus fulfilled the histologic criteria of neuronal intestinal dysplasia type B. To our knowledge, this is the first reported case of congenital ICC hyperplasia. Further studies of ICC development may contribute to better understanding of the pathogenesis of this congenital malformation and the tumorigenesis of GIST.

Antigens, CD34↗
PubMed2000

Spontaneous bowel perforation in infants and young children: a clinicopathologic analysis of pathogenesis.

BACKGROUND: In children beyond the neonatal stage, spontaneous bowel perforation with no specific cause is rare. It has attracted little notice and does not fit into any established clinical category. This often results in treatment delays. To determine the underlying pathogenesis, a clinicopathologic analysis of this group of patients was performed. METHODS: From 1984 through 1997, 15 previously healthy children (10 boys and 5 girls) with bowel perforations were enrolled in this study. Children in whom the specific cause was established were excluded. The ages of the patients ranged from 3 months to 5 years, 5 months (average age: 2 years, 4 months). Data on clinical course, surgical and pathologic findings, and outcomes were analyzed. RESULTS: All the patients had high fever and acute, watery diarrhea with clinical dehydration. Abdominal distension developed and bowel perforation ensued 5 to 30 days after the onset of diarrhea. In all cases, the perforation consisted of either an isolated patch of bowel (n = 8) or patchy lesions in a segment (n = 7), which was confined to one of the following three anatomic watershed areas: the splenic flexure (n = 7); the lower sigmoid (n = 3); and the ileocecal region (n = 5). One patient died, and three had major sequelae including intra-abdominal abscess, adhesion ileus, and peristomal fistula. Specimens from 13 patients were submitted for histopathologic evaluation. All specimens had acute suppurative inflammation diffusely around the perforation site. Seven had areas of coagulation necrosis of the muscularis propria, especially in the inner circular muscle layer. CONCLUSION: In acute diarrheal diseases, dehydration may cause bowel ischemia and lead to perforation. Physicians should be alert to the possibility of this abdominal catastrophe when progressive abdominal distension followed by acute diarrheal episodes occurs in children.

Acute Disease↗
PubMed2000

Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.

The A3243G mutation of mitochondrial DNA (mtDNA) has been shown to be responsible for or associated with mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes (MELAS) syndrome, diabetes mellitus (DM) and several other neuromuscular diseases. We used polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) to identify the A3243G mtDNA mutation and an electron microscope to examine mitochondrial derangement in the muscle biopsies of a 38-year-old man suspected to have MELAS syndrome with DM. We found great variability in the clinical presentation and in the proportion of mtDNA with the A3243G mutation in the matrilineal family members of the patient. The proband had atypical MELAS syndrome, recurrent vascular headache, and DM (MELASDM), and his mother manifested chronic progressive ptosis and DM (CPPDM). Brain magnetic resonance imaging of the proband showed high signal intensity in the left temporoparieto-occipital area on T2 weighted images (T2WI). The blood lactate level ranged from 2.32 to 4.70 mmol/l, and two-hour postprandial glucose ranged from 124 mg/dl to 148 mg/dl. The blood lactate and postprandial glucose of the proband's mother were 3.15 mmol/l and 192 mg/dl, respectively. Electron microscopic examination of a muscle biopsy of the patient showed abnormal mitochondria with decreased density of cristae and membrane degeneration. No ragged-red fibers were detected in muscle upon staining with modified Gomori trichrome. The hair follicles and blood cells of the patient and his mother showed the A3243G mutation in the tRNA(Leu)(UUR) gene. The proportions of the mutant DNA in the hair follicles and blood cells of the proband were 36.8% and 35.2%, respectively, and those of the patient's mother were 28.8% and 13.9%, respectively. We conclude that the A3243G mtDNA mutation may manifest with MELASDM or CPPDM in different matrilineal members of the same family as a result of differences in random segregation of the heteroplasmic A3243G mutant mtDNA in the affected tissues of patients.

Adult↗
PubMed2000

Accurate diagnosis of Helicobacter pylori infection by stool antigen test and 6 other currently available tests in children.

Invasive and noninvasive tests have been developed for the diagnosis of Helicobacter pylori infection. Because H pylori infection is acquired in childhood and adolescence, accurate diagnosis of the infection in the pediatric population is important. We conducted a study to compare invasive tests: culture, biopsy urease test, histology, and polymerase chain reaction on gastric biopsy specimens, with noninvasive tests: serology, (13)C-urea breath test, and a new diagnostic modality, stool antigen test to diagnose H pylori infection. A total of 53 children with symptoms were enrolled in this study, and all had completed the 7 diagnostic tests for H pylori. All the diagnostic tests except serology were excellent methods of diagnosing H pylori infection in children; the diagnostic accuracy was as follows: stool antigen test 96.2%, biopsy urease test 96.2%, histology 98.1%, polymerase chain reaction 94.3%, culture 98.1%, (13)C-urea breath test 100%, and serology 84.9%. The stool antigen test, being highly sensitive and specific, will be potentially very helpful in diagnosing H pylori infection in children.

Adolescent↗
PubMed2000

Metabolic disorders mimicking Reye's syndrome.

BACKGROUND: Several metabolic disorders such as encephalopathy and hepatic dysfunction have been described as Reye's-like syndrome because they present with similar clinical manifestations that mimic Reye's syndrome. We performed a retrospective study to explore the underlying metabolic etiologies of Reye's-like syndrome in patients treated at National Taiwan University Hospital. METHODS: From January 1991 to June 1998, 19 children with a syndrome fitting the Reye's-like syndrome description were identified for study. Urine organic acid analysis, plasma amino acid analysis, liver pathology, and skin fibroblast enzyme assays were studied during the acute stage of illness. RESULTS: The etiologies of patients' syndromes included urea cycle disorders (n = 7), glycogen storage disease type Ia (4), primary carnitine deficiency (2), hereditary fructose intolerance (1), methylmalonic acidemia (2), and 3-hydroxy-3-methylglutaric acidemia (1). Fatty acid oxidation defects were suspected in the remaining two cases. CONCLUSIONS: A significant number of patients who present with Reye's-like syndrome have an underlying inherited metabolic disorder. In patients with Reye's-like syndrome, an accurate diagnosis is essential to ensure normal growth and development and to prevent recurrence of the condition.

Child, Preschool↗
PubMed2000

Focal nodular hyperplasia of the liver in a child.

We present a case of focal nodular hyperplasia (FNH) of the liver in a 7-year-old girl. The hepatic tumor was found incidentally on physical examination at school. During surgery, a hypervascular mass with a nodular surface was found to be confined to the right lobe of the liver (mainly in segments 5 and 6). The brownish tumor and the gallbladder were completely removed. Pathologic examination revealed a 10 x 9 x 5-cm mass with a central scar and radiating septa, consistent with the diagnosis of FNH. The postoperative course was complicated by subhepatic effusion, which was resolved by percutaneous computed tomography-guided drainage. She remained well 2 years after surgery.

Child↗
PubMed1999

Investigation of chromosomal aberrations in hepatocellular carcinoma by fluorescence in situ hybridization.

Molecular cytogenetic approaches have been applied only rarely in the characterization of hepatocellular carcinoma (HCC). The aim in this study was to evaluate aberrations, particularly deletions, of specific chromosomal regions in HCC. Dual-color fluorescence in situ hybridization (FISH) was performed on intact nuclei from touch preparations of 17 HCCs and 1 hepatic adenoma. Each touch preparation was hybridized with a digoxigenin-labeled centromere probe and a biotin-labeled unique sequence probe from the same chromosome. This approach permitted the simultaneous evaluation of ploidy changes and chromosome arm deletions. Eight noncentromeric chromosome regions, 3p14, 4q21, 6q14, 6q21, 8p12, 8p22, 9p21, and 9p24 were selected for study on the basis of their having been implicated as tumor suppressor regions in HCC or other common types of carcinoma. Together with the 5 corresponding centromeric probes on chromosomes 3, 4, 6, 8, and 9, a total of 13 chromosome loci were evaluated. All cases of hepatocellular carcinoma showed at least one deletion or aneuploidy. The hepatic adenoma was all diploid. Chromosome 4q21 showed the highest rate of deletion (76.5%) and aneusomy (88%). The second and the third were chromosome 8p22 and 6q14, which showed 59% and 47% of deletion, respectively. A 4q21 deletion is also the most frequent single chromosome aberration. Prominent tumor heterogeneity and variable deletion patterns were noted. Interphase FISH was an efficient means for evaluating numerical and structural chromosome aberrations in HCCs. Most HCCs contained deletions of known tumor suppressor regions (4q and 8p), and a novel deletion hotspot was demonstrated on chromosome band 6q14.

Adult↗
PubMed1999

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation.

Bone marrow transplantation (BMT) has been used for a wide variety of lysosomal storage diseases with encouraging results. We report a 3-year 5-month-old girl with Niemann-Pick type C disease (NPC) who received an allogeneic BMT. The patient presented with repeated lower respiratory tract infections, hepatosplenomegaly, failure to thrive, and developmental delay. Chest computed tomography (CT) revealed diffuse interstitial lung infiltration. Bone marrow and liver biopsies revealed abundant lipid-filled foamy macrophages. Skin fibroblast sphingomyelinase assay revealed partial deficiency. The ability of her skin fibroblasts to esterify cholesterol was very low, and the cells stained brightly for free cholesterol. She received BMT from a healthy HLA-identical male sibling donor at the age of 2 year 6 months. Full engraftment was evidenced by repeated bone marrow sex chromosome studies. Regression of the hepatosplenomegaly, markedly reduced foamy macrophage infiltration in bone marrow, and decreased interstitial lung infiltration was noted 6 months after BMT. Her neurological status, however, deteriorated. Follow-up magnetic resonance image (MRI) revealed progressive, diffuse brain atrophy. We conclude that resolution occurred in the liver, spleen, bone marrow and lung following successful engraftment. Such a response is remarkable since the underlying problem involves a membrane receptor for cholesterol. This positive response might be due to replacement of the monocyte-phagocytic system or it may imply the existence of cross-correction in the NPC membrane receptor defect by BMT approach. Since BMT did not halt the neurological deterioration, it is unlikely to be an adequate treatment for NPC.

Bone Marrow Transplantation↗
PubMed1999

Epstein-Barr virus-associated intravascular lymphomatosis within Kaposi's sarcoma in an AIDS patient.

Intravascular lymphomatosis (IL) is an unusual neoplasm characterized by multifocal proliferation of lymphoma cells exclusively within the blood vessels. We report here a patient with acquired immunodeficiency syndrome (AIDS) and disseminated Kaposi's sarcoma. A 233-bp amplification product of HHV-8 was detected in the DNA extracted from specimens of Kaposi's sarcoma at different sites by polymerase chain reaction (PCR). At autopsy, the vessels within the Kaposi's sarcoma were dilated and filled with atypical large mononuclear cells. No such feature was seen in the vessels of non-Kaposi's sarcomatous regions. Immunohistochemically, the spindle cells of Kaposi's sarcoma were positive for CD31 (endothelial cell marker). The intravascular tumor cells were positive for CD45 (leukocyte common antigen) but negative for others, including chloroacetate esterase, CD45-RO (UCHL-1, Pan-T), CD3, CD43, CD20 (L26, Pan-B), CD30 (Ki-1), immunoglobulin heavy chains and light chains, CD56 (natural killer cell antigen), and CD31. Monoclonal rearrangement of immunoglobulin heavy chain gene was detected in the DNA extracts from fresh tissue of Kaposi's sarcoma by PCR, which indicated that the lymphoma cells within the Kaposi's sarcoma were of monoclonal B cell origin. In situ hybridization revealed that EBER-1 transcripts were present in the lymphoma cells of IL but not in the spindle cells of Kaposi's sarcoma. To the authors' best knowledge, this is the first instance of IL in an AIDS patient with direct evidence of EBV association.

Biomarkers, Tumor↗
PubMed1999

Endoscopic mucosal resection for treatment of heterotopic pancreas in the stomach.

We report a case of a 30-year-old man who suffered from epigastralgia for 1 month. During an upper gastrointestinal endoscopic examination, a small nodule with a smooth surface was found at the greater curvature of the gastric antrum. Endoscopic ultrasonography showed focal thickening of the second and third layers of the stomach with slightly hypoechoic echotexture in the submucosa. The tumor was excised by means of endoscopic mucosal resection, with a cap-fitted panendoscope. Pathologic examination of the resected tissue revealed a heterotopic pancreas, which was subsequently removed. Heterotopic pancreas is often difficult to diagnose preoperatively. This is the first reported case in which endoscopic mucosal resection was used for both diagnosis and treatment heterotopic pancreas.

Adult↗
PubMed1998

Acute and chronic arsenic poisoning associated with treatment of acute promyelocytic leukaemia.

Seven relapsed and/or refractory acute promyelocytic leukaemia patients were treated by arsenic trioxide (As2O3). Four patients (4/7, 57%) achieved complete remission after one to three cycles of treatment and the most common acute side-effect was fluid retention (in six patients, 86%), including weight gains and pleuro-pericardial effusions. Evident polyneuropathy compatible with chronic arsenic toxicity was noted in two of the three patients who received As2O3 maintenance therapy and one of them had marked distal muscular atrophy. We suggest that As2O3 may be a useful salvage therapy for relapsed and refractory APL patients, but the acute or chronic arsenic toxicity should be carefully monitored.

Acute Disease↗
PubMed1998

Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese population.

The correlation of polymorphic DNA haplotype of the alpha-L-iduronidase (IDUA) gene and IDUA activity in Chinese subjects was investigated. Genomic DNA extracted from 85 randomly sampled normal individuals was used to amplify fragments containing the polymorphic change site A8, Q33H (exon 1), R105Q (exon 3), A361T (exon 8), or V454I (exon 9). The PCR amplified products were analyzed by means of restriction fragment length polymorphism (RFLP) or allele specific oligonucleotide (ASO) hybridization. Leukocytes were isolated from the above 85 samples, and their IDUA activities were determined. A wide range of IDUA activity (50-300 nmol/h/mg cell protein) with an average of 156 nmol/h/mg cell protein was observed. When the allele frequency was compared between individuals with IDUA activity below 90% or above 110% of the average, a bias toward the common allele "1" of Q33H (Gln33) was detected in individuals with higher IDUA activity. Conversely, the polymorphic allele "2" of R105Q (Gln105), A361T (Thr361), and V454I (Ile454) was found in the higher IDUA activity group. Linkage disequilibrium analysis of the haplotype data revealed strong nonrandom association among the polymorphic alleles of R105Q, A361T, and V454I. Of the haplotypes constructed by Q33H, R105Q, A361T, and V454I, a positive correlation between haplotype 1,2,2,2 (Gln33, Gln105, Thr361, Ile454) and IDUA activity was observed. The IDUA activity was found to increase with Gln105, Thr361, or Ile454 polymorphic changes by mutagenesis and expression of IDUA cDNA in COS-7 cells. By combining the positive effect of Gln105, Thr361, and Ile454 in one cDNA construct, it may be possible to produce a high activity IDUA protein for MPS I enzyme replacement therapy.

Alleles↗
PubMed1998

Thyrotropin-secreting pituitary adenoma.

Thyrotropin (TSH)-secreting pituitary adenoma (TSPA) is a rare cause of hyperthyroidism and detailed reports of this entity in Taiwan are uncommon. We report a patient with TSPA with symptoms of hyperthyroidism and describe the presentation, endocrine and histologic findings, and treatment. The patient, a 42-year-old man, presented with a 2-year history of weight loss, palpitation, anxiety, and bad temper. He had increased basal serum thyroxine (T4, 18.3 micrograms/dL) and triiodothyronine (T3, 250 ng/dL) concentrations. The TSH concentration was normal (4.6 microIU/mL) and showed impaired response to stimulation by TSH-releasing hormone. Tests for antithyroid antibodies were negative. Thyroid scintigraphy showed mild thyroid enlargement. The thyroid uptake of radioactive iodine (131I) was high at 2 hours (34%) and 24 hours (63%) after 131I administration. Other serum hormone concentrations were within normal limits. Magnetic resonance imaging of the brain showed a microadenoma in the pituitary region. Octreotide and bromocriptine tests showed 78.4% and 58.3% inhibition of TSH, respectively. The patient underwent trans-sphenoidal pituitary tumor excision, and the symptoms of hyperthyroidism subsided after surgery. Six months after the operation, there was no evidence of recurrence of the tumor or symptoms of hyperthyroidism. Hormonal supplements were also not necessary. In conclusion, TSPA is a rare cause of hyperthyroidism. However, in patients with symptoms of hyperthyroidism and increased basal serum T1 and T3 concentrations, but normal or even elevated serum TSH concentrations, TSPA should be considered in the differential diagnosis.

Adenoma↗
PubMed1997

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↗
PubMed1997

Manifestations and surgical treatment of choledochal cyst in different age group patients.

Whether early surgery is necessary for asymptomatic choledochal cyst is still controversial. In order to evaluate the manifestations of choledochal cyst on different age group patients, we investigated 57 patients, 36 females and 21 males, who underwent surgery for choledochal cyst at National Taiwan University Hospital from July 1988 to June 1995. Of these, 93% were classified as type I according to the Alonzo-Lej or Todani classification method. Patients were divided into three groups according to their age at surgery: group I, 14 infants (< 1-yr); group II, 28 children (1-16 yr); and group III, 15 adults (> 16 yr). The most common symptom in infants was jaundice, while abdominal pain was the most frequent in children and adults. Preoperative evaluation of liver function showed that alanine aminotransferase was higher in group II (160 +/- 77 IU/L) and group III (164 +/- 75 IU/L) than group I (74 +/- 28 IU/L). A higher tendency of biliary sludge and stone formation was noticed in group III (6/15, 40%) when compared with group I (2/14, 14.3%) and group II (5/28, 17.9%). The incidence of high bile amylase concentration in the choledochal cyst was higher in groups II (16/21,76.2%) and III (9/11, 81.8%) than in group I (2/9, 22.2%). There was more inflammatory changes detected in the choledochal cyst wall and gall bladder by histologic examination in older patients (groups II and III). Therefore, an early surgery for choledochal cyst is suggested for prevention of liver injury, biliary sludge, stone formation and pancreatitis.

Adolescent↗
PubMed1996

Agenesis of the ductus venosus in a case of monochorionic twins which mimics twin-twin transfusion syndrome.

We describe a pair of monochorionic twins with clinical manifestation of twin-twin transfusion syndrome, including discordant fetal growth, hydrops of the larger twin, and the 'stuck twin' phenomenon of the smaller twin. In the hydropic twin, we found agenesis of the ductus venosus and an abnormal umbilical vein draining directly into the inferior vena cava. There was also marked enlargement of the right atrium, representing the volume overload on it. We believe that the agenesis of the ductus venosus in the larger twin may have contributed to the 'unbalanced shunting' between the monochorionic twins. This then led to a clinical picture mimicking that seen in the authentic twin-twin transfusion syndrome.

Adult↗
PubMed1996

Lipid peroxidation in liver of rats administrated with methyl mercuric chloride.

Parenteral administration of methyl mercuric chloride (MMC, CH3HgCl) to rats enhanced lipid peroxidation in liver of rats, as measured by the thiobarbituric acid reaction for malondialdehyde (MDA) in fresh tissue homogenates. After sc injection of CH3HgCl (5 mg/kg body wt), MDA concentration in liver became significantly increased at 24 h and further increased at 48 h. Dose-response studies were carried out with male albino rats of the Fisher-344 strain (body wt 170-280 g) injected with 3 or 5 mg Hg/kg as CH3HgCl and sacrificed after 24 h. In time-response studies, animals were administered 5 mg Hg/kg as CH3HgCl and sacrificed after 24 and 48 h. Studies in the authors' laboratory have shown that (1) mercury is accumulated in liver; (2) concentration of MDA is increased in liver of CH3HgCl-treated rats; (3) severity of hepatotoxicity is generally proportional to the elevation of MDA concentration, based upon the dose-effect relationships observed after administration of CH3HgCl to rats. The results of this study implicate that the lipid peroxidation is one of the molecular mechanisms for cell injury in acute CH3HgCl poisoning.

Alanine Transaminase↗