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Mu-Zon Wu

Publications and source records attributed to Mu-Zon Wu.

11 recordsLinked to original sources
PubMed2006

Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.

Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular carcinoma (HCC) in Japanese. We report a 48-year-old Taiwanese man with citrullinemia, who was in good health until the age of 34 when he had repeated episodes of consciousness disturbance. Hyperammonia (201 micromol/L) was found during an episode of coma. Liver function and electrolyte levels were normal at that time. Serologic markers of viral hepatitis B and C were negative. Analysis of genomic DNA extracted from peripheral blood leukocytes showed homozygous 851del4 mutation in exon 9 of the SLC25A13 gene on chromosome 7q21.3. Fourteen years after disease onset, at the age of 48, he was admitted due to an episode of coma. Abdominal sonography and computed tomography showed a 2.5 cm tumor in the left lobe of the liver, without evidence of liver cirrhosis. Wedge resection of the tumor was performed and grade 2 HCC was diagnosed. The nontumor part of the resected specimen showed chronic persistent hepatitis with moderate steatosis. The results in this case support that both citrin deficiency and steatohepatitis may contribute to hepatocarcinogenesis.

Biopsy, Fine-Needle↗
PubMed2006

Molecular evidence for vertical transmission of listeriosis, Taiwan.

The case is presented of a pregnant woman at the 31st week of gestation with Listeria monocytogenes bacteraemia and microabscess formation in the endometrium, who delivered an infant with disseminated infection (meningitis and bacteraemia). The two patients were successfully treated with intravenous ampicillin and gentamicin. Molecular typing using random amplified polymorphic DNA (RAPD) analysis disclosed that three isolates from the mother (blood) and infant (blood and cerebrospinal fluid) had identical RAPD profiles.

Adult↗
PubMed2004

Monostotic fibrous dysplasia of the thoracic spine with malignant transformation.

Monostotic fibrous dysplasia involving the spine is rare. There have been only 6 previous reports of monostotic fibrous dysplasia involving the thoracic spine and none had malignant transformation. We report a case of monostotic fibrous dysplasia of the thoracic spine with malignant transformation. Findings on plain radiographs, isotope bone scan, computed tomography and magnetic resonance imaging are discussed and compared with those of the previously reported cases.

Aged↗
PubMed2002

Hypopituitarism and nesidioblastosis in an elderly patient with orbital lymphoma.

Nesidioblastosis is a rare cause of hyperinsulinemic hypoglycemia in adults. We report a case of combined hypopituitarism with secondary adrenal insufficiency and nesidioblastosis with symptomatic hypoglycemia. This 84-year-old woman had a diagnosis of right side orbital lymphoma and underwent one complete course of local radiotherapy 6 months prior to this admission. Intermittent consciousness alteration had occurred in the 2 months after radiotherapy, and hypoglycemia with a blood glucose of 0.61 mmol/L (11 mg/dL) was noted. Although this case exhibited inappropriate hyperinsulinemia during the hypoglycemic episode, the prolonged fasting test was negative, which was unusual for insulinoma but common to nesidioblastosis. The hypopituitarism and secondary adrenal insufficiency, which may have been radiotherapy related, and the nesidioblastosis led to a relapse of neuroglycopenia. After a glucocorticoid supplement and an 80% subtotal pancreatectomy, her hypoglycemic symptoms were relieved. This case reminds us that nesidioblastosis, in addition to insulinoma, should be considered as a cause of hypoglycemia in elderly patients.

Adrenal Insufficiency↗
PubMedDate not supplied

Activation of telomerase and expression of human telomerase reverse transcriptase in coronary atherosclerosis.

INTRODUCTION: Considerable research on telomerase on human neoplastic and normal long-lived proliferative tissues has emerged. We explored the expression of telomerase in atherosclerotic human epicardial coronary arteries. METHODS: Forty discrete human coronary arterial segments obtained from 19 heart transplant recipients were classified into nonatherosclerotic and atherosclerotic groups based on coronary angiography and histological examination. PCR-ELISA-based telomeric repeat amplification protocol (TRAP), and immunohistochemical analyses were conducted to determine the functional activity and cell-specific expression of telomerase. RESULTS: Seventy percent of atherosclerotic coronary arteries exhibited positive telomerase activity, and the reactivation incidence reached fourfold higher than that of controls (P=.007). The telomerase catalytic protein, human telomerase reverse transcriptase (hTERT), was expressed in 88% of atherosclerotic tissues, a fivefold higher frequency compared with that of the controls. There was also a correlation of hTERT expression with the level of telomerase bioactivity (P=.017) and with the severity of atherosclerotic grade (P<.001). In comparison with the immunostaining of mitotic antigen, Ki-67, we found an association of hTERT expression with actively cycling cells in early lesions but with quiescent cells in late advanced atherosclerotic stages. CONCLUSIONS: The up-regulation of telomerase and its catalytic hTERT protein during stages of atherosclerotic evolution may implicate a role of telomerase in vascular remodeling underlying atherogenesis.

Adolescent↗
PubMedDate not supplied

Unusual manifestations of soft tissue metastasis.

We present a patient with pulmonary adenocarcinoma metastatic to the left forearm. The magnetic resonance imaging (MRI) revealed no discrete tumor, but an infiltrative signal change of the subcutaneous tissue and muscle. The lymphatic invasion by cancer cells explains this unusual manifestation of image findings.

Adenocarcinoma↗
PubMedDate not supplied

Ultrasonographic diagnosis of inflammatory pseudotumor of the ileum complicating with intussusception: a case report.

Inflammatory pseudotumor is one of the etiologies that may cause small bowel intussusception. Because of its emergency, early diagnosis plays a pivotal role in successful management. Ultrasonography is a safe and handy diagnostic tool without invasiveness and it is advantageous for early preoperative diagnosis. We present a case of ileal intussusception caused by inflammatory pseudotumor, which was diagnosed preoperatively with ultrasonography and was proven by operation. The ultrasonographic feature of the inflammatory pseudotumor was heterogeneously hyperechoic and it should be included in the differential diagnosis of hyperechoic leading lesions of small bowel intussusception in adults.

Adult↗
PubMedDate not supplied

Ovarian cyst with torsion presenting as a wandering mass in a newborn.

A case of ovarian serous cystadenoma with torsion presenting as a wandering abdominal mass is reported. A full-term baby girl was noted to have a left pelvic cyst by prenatal ultrasound at the 34th gestational week. After delivery, a series of work-ups, including ultrasonography and CT scan, revealed a cyst with fluid-debris level in the right pelvis. An ovarian cyst with torsion was suspected and surgical intervention was done when she was 7 days old. The operative findings confirmed a left ovarian cystic mass with torsion. A left salpingo-oophorectomy was performed smoothly. Pathology revealed the typical microscopic findings of ovarian serous cystadenoma, a benign epithelial tumor of ovary. We suggest that a wandering ovarian cystic mass in female fetus and newborn should be considered an indication for surgical intervention due to its high risk of torsion.

Cystadenoma, Serous↗