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Biomedical subjects

C S Chi

Publications and source records attributed to C S Chi.

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

Neonatal fungemia caused by Hansenula anomala: a case report.

Hansenula anomala, an ascosporogenous yeast of the class Ascomycetes, is a free-living organism isolated from the environment. It is also a part of the normal or transient flora of the human throat and alimentary tract. It has been recognized as an opportunistic pathogen and its infection is very rare. A premature infant, a victim of right femoral osteomyelitis and right hip arthritis caused by oxacillin-resistant Staphylococcus aureus, was found to have developed H. anomala fungemia just before the initiation of the antimicrobial therapy with teicoplanin. Antifungal agents (fluconazole and amphotericin B) were prescribed for 10 days despite the absence of clinical sign of systemic fungal infection. His general condition remained good, with a subsequent sterile blood culture. The patient was discharged after completing 5 weeks of antimicrobial therapy, and he remained well during follow-up at our outpatient clinics. Here, we also review the risk factors, the clinical presentations, and the therapeutic strategies of H. anomala infection in the literature.

Fungemia↗
PubMed1998

Intratumoral injection of rhenium-188 microspheres into an animal model of hepatoma.

UNLABELLED: Intratumoral injection of 90Y microspheres is a potential alternative in the treatment of primary liver tumor. However, complicated preparation and lack of a gamma ray for imaging are the disadvantages of 90Y. In this study, we used 188Re, a generator-produced radioisotope with 155-keV gamma ray emission, to label microspheres. After intratumoral injection of 188Re microspheres into rats with hepatoma, biodistributions and survival times were analyzed. METHODS: Twelve male rats with hepatoma were killed at 1, 24 and 48 hr (4 rats at each time point) after intratumoral injection of approximately 7.4 MBq 188Re microspheres. Samples of various organs were obtained and used to calculate the tissue concentrations. In addition, 30 male rats bearing hepatoma were divided into two groups (15 rats in each group) to evaluate survival time. Group 1 received intratumoral injection of 37 MBq 188Re microspheres, whereas Group 2 served as the control group and received an intratumoral injection of 0.1 ml normal saline only. Survival time was calculated from the day of injection to 2 mo after treatment. RESULTS: Radioactivity in the tumor was very high throughout. Biological half-time was 170.8 hr. Radioactivity in the lung was 1.78% injected dose (i.d.)/g at 1 hr but declined rapidly over time. The concentration in the urine was approximately 6.14% i.d./ml after the first hour and rapidly declined thereafter. The concentrations of radioactivity in other organs, such as normal liver, muscle, spleen, bone, testis and whole blood, were quite low throughout the study. Twelve of 15 (80%) of rats survived over 60 days after intratumoral injection of 188Re microspheres, whereas only 4 of 15 (26.7%) survived more than 60 days after injection of normal saline only. The difference between the groups was significant (p < 0.05). CONCLUSION: Rhenium-188 offers cost-effectiveness, on-site availability, short half-life, energetic beta particle, emission of gamma photons for imaging, easy preparation, easy clinical administration and apparent lack of radiation leakage from the treated tumor. Direct intratumoral injection of 188Re microspheres is extremely attractive as a clinical therapeutic alternative in hepatoma patients.

Animals↗
PubMed1998

Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report.

An 11-year-old boy presented with seizure and cortical blindness. A T1 weighted magnetic resonance image of the brain showed high signal intensity in the bilateral corpus striatum and long T1 and T2 changes in the bilateral occipital and cerebellar hemispheric regions. Increased cerebrospinal fluid lactate concentration of 56.7 mg/dl and blood lactate concentration of 34.2 mg/dl were also noted. A muscle biopsy obtained from the quadriceps femoris muscle showed the presence of ragged red fibers and mitochondrial DNA (mtDNA) analysis showed an A-->G mutation at nucleotide position 3243. MtDNA analysis of the patient's mother revealed the same mutation. These findings indicated MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes).

Blindness, Cortical↗
PubMed1997

Primary intracranial germ-cell tumor in children.

BACKGROUND: Primary intracranial germ-cell tumors (GCTs) account for about 11.1% of all primary brain tumors of children in Taiwan. Because these tumors commonly involve the hypothalamus-pituitary gland regions and their biochemical secreting character, patients frequently display neuroendocrinological symptoms and signs. Endocrinopathy, if present, often occurs prior to other neurological or radiological manifestations. This article reviews experience here, with present results comparing them with previous reports. METHODS: Twelve children who were diagnosed with primary intracranial germ-cell tumors between 1983 to 1995 were studied retrospectively. Their clinical presentations, laboratory results and treatment modalities as well as the current status were collected for presentation here. RESULTS: There were seven boys and five girls. The age distribution was from 5 to 15 years old. The most common symptom was increased intracranial pressure (9/12), followed by diabetes insipidus (8/12), vision deficit (8/12) and sexual precocity in 3 boys. In 11 patients the tumors arose from the suprasellar or pineal regions. In two patients the tumors arose synchronously in the suprasellar and pineal regions. Pure germinoma was found in six patients. Only one had an elevated tumor marker. These six patients all received radiation with or without operation therapy, and all are still alive. Six patients, each with a non-germinomatous malignant germ-cell tumor, had a poorer prognosis. Although they received aggressive treatment, including operation, radiation and chemotherapy, three patients died, with a mean survival period of 3.3 years. CONCLUSIONS: In cases of diabetes insipidus in children or sexual precocity in boys, a thorough investigation for intracranial germ-cell tumors is recommended. The treatment and outcome are different for germinomas and non-germinomatous malignant germ-cell tumors. A thorough pathological diagnosis is recommended for planning of treatment protocol in order to improve prognosis.

Adolescent↗
PubMed1996

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).

We present a 6-year-old Chinese boy with Alagille syndrome and an interstitial 20p deletion, with a karyotype of 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat. He had a peculiar face and suffered from congenital heart disease, growth retardation, severe cholestasis, hepatosplenomegaly, and impaired renal function. The karyotype of his mother showed a balanced translocation, 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13), and her phenotype was normal. His dead elder brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrome is a single gene defect, the putative gene responsible for the syndrome would not be located at the insertion breakpoints but located within the deletion extent.

Alagille Syndrome↗
PubMed1996

Epstein-Barr virus encephalitis and encephalomyelitis: MR findings.

The purpose of this project is to investigate the clinical and brain MR characteristics of Epstein-Barr virus (EBV) encephalitis and encephalomyelitis. Clinical and 30 MR findings of 29 patients with EBV encephalitis or encephalomyelitis were retrospectively reviewed. Patients included 24 with encephalitis, 3 with encephalomyelitis, and 2 with brain-stem encephalitis. Altered consciousness, seizures, visual hallucination, and acute psychotic reaction were the common presentations. Eight patients had positive MR findings. These included T2 prolongation over gray and white matter, periventricular leukomalacia, and brain atrophy. Transient T2 prolongation over gray and white matter was found in one patient. Our results indicate that EBV encephalitis and encephalomyelitis have a wide range of both clinical and MR findings. The MR lesions may disappear in a short period, so the timing for the MR scan may be critical.

Adolescent↗
PubMed1996

Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers.

We report a 6-month-old girl with episodic hyperventilation, myoclonus, disturbed consciousness, and lactic acidosis. Brain sonogram revealed progressive ventriculomegaly, and MRI showed symmetric low densities over the putamen bilaterally with diffuse cortical cystic lesions. Ragged-red fibers were noted in the muscle biopsy. Molecular analysis revealed a heteroplasmic T-->G mutation at nucleotide position (np) 8993 of mitochondrial DNA (mtDNA). The proportion of the mutant mtDNA in the muscle of the proband was estimated to be 86%. Her mother and maternal uncle also harbored the same mutant mtDNA (54 and 48% in their leukocytes, respectively). One of her sisters carried 64% mutant mtDNA in her leukocytes, but another sister did not. These results suggest that this mutant mtDNA is transmitted through the maternal lineage in this family in a randomly segregated manner. To our knowledge, this is the first report of a Chinese patient with Leigh syndrome associated with the T-->G substitution at np 8993 of mtDNA.

DNA, Mitochondrial↗
PubMed1996

Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.

Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with type 1a GSD. Both patients are compound heterozygotes with two different single nucleotide substitutions in the two G6Pase alleles. A guanine to adenine transition was identified at base position 327 in the exon 2, converting an arginine to a histidine at codon 83. The second substitution was a thymine to adenine transversion at base position 1101 in the exon 5, converting an isoleucine to an asparagine at codon 341. Family study reveals that both parents are heterozygous carriers: the father with a mutant G6Pase allele at exon 2, the mother with another mutant G6Pase allele at exon 5. This is the first family study in Taiwan on type 1a GSD identified by molecular analysis. The mutations identified herein are novel substitutions in the G6Pase gene. In addition, an adenine to guanine substitution was observed at base position 653 in the exon 5 of G6Pase gene in both sibling patients and their parents, as well as in 15 normal Chinese subjects and three normal Caucasian subjects.

Child, Preschool↗
PubMed1995

Decompressive craniotomy for acute shaken/impact baby syndrome.

To estimate the surgical efficacy of decompressive craniotomy, 23 children under 2 years of age with acute shaken/impact baby syndrome were treated with medical or surgical methods over the past 6 years. Six children (group A) with lower intracranial pressure (ICP, less than 30 mm Hg) were treated with medical therapy, and 17 children with high ICP (more than 30 mm Hg) of which 7 children were treated with medical therapy (group B) and another 10 children (group C) were treated with decompressive craniotomy. Bifrontal craniotomy was performed on 5 children with generalized brain swelling. A large frontotemporoparietal craniotomy was performed on another 5 children with unilateral swelling. A mean of 32 ml of subdural hematoma was removed. The mean ICP was reduced by 80% in the craniotomy group, p < 0.05. Children in groups A and C performed better on the Children's Outcome Scale than those in group B, p < 0.05. Mortality was significantly lower (0/10) in group C than in group B (3/7), p < 0.05. Hearing preservation was better in group C than in group B, p < 0.05. Bifrontal and frontotemporoparietal craniotomies may reduce mortality and morbidity for acute shaken/impact baby syndrome with high ICP. Patients with ICP less than 30 mm Hg may be treated successfully with medical therapy and patients with ICP more than 30 mm Hg are better treated with decompressive craniotomy.

Battered Child Syndrome↗
PubMed1995

Lumboperitoneal shunt complicated with chronic tonsillar herniation: a case report.

Lumbopritoneal shunt (L-P shunt) has been widely accepted as a treatment for communicating hydrocephalus. The technique offers many advantages such as easy insertion, a low infection rate, a reduced incidence of brain damage, et centera. Despite these advantages, there are also some associated complications, such as tonsillar herniation. This complication rarely occurs, but, when it does, it develops gradually. This report concerns an eight-year-old girl, who had received L-P shunt at the age of 20 days; she then developed tonsillar herniation, requiring operative decompression, eight years later. This case illustrates the necessity for carefully follow up patients who have undergone the L-P shunt procedure.

Cerebellar Diseases↗
PubMed1995

Unilateral porencephalic cyst presenting as infantile spasms: a case report.

Multiple etiological factors have been associated with infantile spasms (IS), and are usually linked to diffuse or multifocal brain damage. It is generally believed that infants with symptomatic IS have a significantly higher incidence of mental retardation and epilepsy than those with cryptogenic IS. However, IS secondary to focal brain lesions in which surgical removal of the lesions has resulted in cessation of generalized spasms and subsequent normal development are rarely reported. A seven-month-old male infant who manifested head nodding and generalized flexor spasms one month prior to the admission is reported. Waking interictal electroencephalography revealed a pattern of burst-suppression variant of hypsarrhythmia. Brain magnetic resonance imaging disclosed a huge porencephalic cyst over the left temporo-parietal region. The infant underwent craniotomy with corpus callosotomy, causing marked improvement in seizures. He attained subsequent stable psychomotor development.

Brain Diseases↗
PubMed1995

Congenital muscular dystrophy (non-Fukuyama type): a case report.

A Taiwanese girl, aged 12 years, presented with early myogenic hypotonia, multiple joint contractures, mental subnormality and epilepsy. Computerized tomography scanning of the brain showed white matter hyperlucency. According to her clinical manifestations and radiological pictures, the patient could be the fourth oriental case who had the features of occidental-type cerebromuscular dystrophy.

Child↗
PubMed1995

Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.

BACKGROUND: The Lesch-Nyhan syndrome is an X-linked recessive inherited disease caused by a complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT) activity. Many different mutations throughout the HPRT coding region of Lesch-Nyhan patients have been described, including single base substitutions, partial or entire gene deletions, gene insertions or endoduplication of exons. However, study of gene mutation in Chinese patients has rarely been reported in Taiwan. METHODS: Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and the nature of the mutation at the HPRT locus in two brothers affected with Lesch-Nyhan syndrome. The HPRT cDNA, amplified from total RNA of patient's peripheral blood by reverse transcription-polymerase chain reaction, was cloned into a pGEM-3Zf(-) vector and then sequenced. Family study involved initial screening using single-strand conformation polymorphism, and further confirmation by direct sequencing of the exon encompassing the mutation. RESULTS: The mutation identified in these two affected siblings was a single nucleotide substitution, from cytosine to guanine, in exon 3 of the HPRT coding region. This transversion putatively caused a single amino acid substitution from phenylalanine to leucine at codon 74 in the translated protein. This base change was further confirmed by direct sequencing of both the HPRT cDNA fragment and the exon 3 of HPRT gene amplified from genomic DNA. The family study revealed that the patient's mother was a heterozygous carrier, and the mutation seemed to have occurred de novo in a germinal cell from one of the maternal grandparents. CONCLUSIONS: This is the first family study on Chinese patients with Lesch-Nyhan syndrome identified by molecular analysis in Taiwan. The mutation described herein is a novel substitution which occurs in a suggested "hotspot" of mutation (exon 3) of the HPRT gene. The application of molecular analysis of HPRT-gene allows not only DNA diagnosis by directly detecting the mutant alleles, but also prenatal diagnosis and carrier identification within individual families affected by Lesch-Nyhan syndrome.

Base Sequence↗
PubMed1994

Aldosterone-secreting adrenal cortical adenoma in an 11-year-old child and collective review of the literature.

We report a rare case of primary hyperaldosteronism due to a unilateral adrenal cortical adenoma in an 11-year-old female patient. The patient presented with hypertension, hypokalaemia and metabolic alkalosis, associated with inappropriate kaliuresis. The diagnosis was supported by the following laboratory findings: elevated plasma aldosterone, suppressed plasma renin activity, nonsuppressible aldosterone secretion following saline infusion and absent plasma aldosterone response to ambulation. MRI revealed a 1 cm-diameter adrenal tumour on the left side. Even though the NP-59 scintigraphy showed the negative result, laparotomy with left adrenalectomy was performed. Pathological examination confirmed an adenoma in the adrenal cortex. The patient's blood pressure and biochemical laboratory data normalized postoperatively within 2 days. We recommend that in hypertensive children with hypokalaemia and metabolic alkalosis, primary aldosteronism should be considered.

Adrenocortical Adenoma↗
PubMed1994

Aldosterone-secreting adrenal cortical adenoma in an 11-year-old child and collective review of the literature.

We report a rare case of primary hyperaldosteronism in an 11-year-old female patient due to a unilateral adrenal cortical adenoma. The patient presented with hypertension, hypokalaemia and metabolic alkalosis associated with inappropriate kaliuresis. The diagnosis was supported by the following laboratory findings: elevated plasma aldosterone, suppressed plasma renin activity, nonsuppressible aldosterone secretion following saline infusion and absent plasma aldosterone response to ambulation. MRI revealed a 1 cm diameter adrenal tumour on the left side. Even though the NP-59 scintigraphy gave a negative result, laparotomy with left adrenalectomy was performed. Pathological examination confirmed an adenoma in the adrenal cortex. The patient's blood pressure and biochemical laboratory data normalized postoperatively within 2 days. We recommended that in hypertensive children with hypokalaemia and metabolic alkalosis, primary aldosteronism should be considered.

Adrenal Cortex Neoplasms↗
PubMed1994

Fatal brainstem encephalitis caused by Epstein-Barr virus.

An 8-month-old male infant, previously well, developed acute changes of consciousness associated with high fever, vomiting, and respiratory failure. Brain CT showed hypodensity of the brainstem, which had shown hyperechogenicity on brain ultrasonography. Brainstem encephalitis caused by Epstein-Barr virus (EBV) was diagnosed, based on the clinical presentation, neuroimaging and paired serological examinations. The patient expired eventually due to central failure. We suggest that EBV infection should be a differential diagnosis in cases of brainstem encephalitis.

Brain Stem↗