Biomedical subjects

Hueng-Chuen Fan

Publications and source records attributed to Hueng-Chuen Fan.

6 recordsLinked to original sources

PubMed2003

X-linked centronuclear myopathy.

We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. Physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex. Diagnosis of the disease was made according to fetal history, family history, muscle histopathology, electron microscopy, and genetic analysis. Subdural hemorrhage of brain and subcapsular hematoma of the liver were found at autopsy of Case 1. The results of molecular analysis of Case 2 and his family favored the diagnosis of X-linked CNM. Molecular studies can be easily performed with only minute amount of DNA of patients, and may help the clinician to predict which patients may be at the risk for medical complications.

Fatal Outcome↗

PubMed2003

Systemic lupus erythematosus-related acute pancreatitis: a case report.

Systemic lupus erythematosus presenting as acute pancreatitis is rare. We report a case of a 12-year-old girl with a 1-year history of systemic lupus erythematosus who developed active pancreatitis. The pancreatitis was first manifested by nausea, vomiting, fever, and abdominal pain. Elevated serum amylase (578 U/L) and lipase levels (5588 U/L), and pancreatic enlargement on ultrasound and computerized tomography confirmed the diagnosis. She responded well to high-dose corticosteroid. The high titer of antinuclear antibodies (1:1280) and low level of complement components (C3, 42.9 mg/dL; C4, 2.3 mg/dL) during the pancreatitis attack suggested that the pancreatitis may have been due to systemic lupus erythematosus exacerbation and not related to drug therapy.

Acute Disease↗

PubMed2002

Microsatellite alteration at chromosome 11 in primary human nasopharyngeal carcinoma in Taiwan.

Nasopharyngeal carcinoma (NPC) is one of the common cancers in Taiwan but is rare in western countries. The development of NPC involves multiple genetic changes in tumorigenesis and progression of the disease. To better understand genetic alterations in chromosome 11 which occur in human (NPC), we examined tumor specimens and corresponding non-cancerous tissue from 30 cases of NPC, using five microsatellite polymorphic markers whose location has previously been defined. To determine the clinical characteristics of MSI(+) or LOH, we performed correlation analysis of the findings with clinicopathological parameters. Loss of heterozygosity (LOH) was identified in 18 (60%) of 30 cases on at least one of the five markers. A high frequency of LOH was found at the two loci: D11S912 (7/30, 23.33%) and D11S934 (6/30, 20.00%), both of which are located within 11q23-24. We also found that 14 specimens (14/30, 46.67%) exhibited microsatellite instability (MSI(+)). Five (5/30, 16.67%) specimens exhibited MSI(+) in the transformation growth factor beta receptor type II (TGF-beta RII) exon 3 which also exhibited on chromosome 11. LOH was found to be significantly correlated with the T (tumor size) value (P=0.022) of Ho's system. MSI(+) showed a significant correlation with the N (lymph node) value of the UICC system (P=0.031). Our results suggest that multiple putative tumor suppressor genes on chromosome 11 play a role in the development of NPC. MSI(+) expression showed a predisposition to occur in the late stage of NPC while LOH tended to occur in early stages of NPC. The behavior of mutated TGF-beta RII exon 3, which appeared to serve as a dysfunction brake during nasopharyngeal carcinogenesis, may be a target gene in the defected mismatch repair system.

Adult↗

PubMed2002

Clinical characteristics of Staphylococcal pyomyositis.

Pyomyositis is common in the tropics but rarely reported in temperate climates. This disease may give rise to obscure, non-specific, or misleading signs and symptoms. Delayed diagnosis and treatment may lead to death. The most common pathogen is Staphylococcus aureus. We analyzed 8 cases treated in the Tri-Service General Hospital between 1989 and 2001. There were 3 males and 5 females with age ranging from 2 to 66 years. Fever was found in all patients. The mean time lag between the onset of minor symptoms and diagnosis was 10 days. The imaging tools used included sonography, gallium-67 scan, computed tomography, and magnetic resonance imaging. Early application of sonography to any suspected lesions can help to establish diagnosis. All 8 patients recovered smoothly without complications after incision, drainage, and administration of adequate antibiotics for 2 to 4 weeks.

Aged↗

PubMed2002

Infected cephalohematoma associated with sepsis and scalp cellulitis: a case report.

Infected cephalohematoma is rarely complicated by sepsis. We report a case of an infected cephalohematoma caused by Escherichia coli sepsis in an otherwise healthy neonate. Skull X-ray revealed soft tissue swelling over parieto-temporal region but no osteolytic lesion. 99mTc bone scan showed scalp cellulitis. Blood culture and scalp wound culture identified E. coli. Treatment with surgical incision and drainage and administration of antibiotics resulted in prompt improvement. The relationship of scalp cellulitis, infected cephalohematoma, and sepsis are discussed.

Cellulitis↗

PubMedDate not supplied

Treatment of a pineal yolk sac tumor: report of one case.

Pineal yolk sac tumors are rare. We present a case of pineal yolk sac tumor in a 15-year-old boy with hydrocephalus and possible cerebrospinal dissemination. He was treated by surgical excision, craniospinal axis irradiation, PVBE (cisplatin, vinblastine, bleomycin, and etoposide) chemotherapy, and intrathecal methotrexate chemotherapy. There was no tumor recurrence at follow-up 2.5 years after treatment.

Adolescent↗