Holoprosencephaly, a grave malformation during cleavage phase of brain development, occurs in association with a variety of clinical syndrome including chromosomal aberration. Among chromosomal anomalies trisomy syndromes, particularly trisomy 18, are often associated with holoprosencephaly. Triploidy with holoprosencephaly had also been described. We report an autopsy case of incomplete triploidy with abnormal sex chromosome, i.e., 63, XXY. Our case showed a marked intrauterine growth retardation, and postmortem examination revealed alobar holoprosencephaly, hypotelorism, bilateral cleft palates and lips, flat nose, microstomia, lowset ears, congenital heart disease and cystic kidney. The brain was microcephalic 5 x 6 cm and was of pancake shape. there was a large dorsal cyst. Olfactory tracts and bulbs were absent. The brain surface was smooth, and only suggestive hippocampal fissure was noted. The basal ganglia and thalami were fused in midline and the aqueductal origin was exposed. The brain stem and cerebellum were unremarkable. Repeated karyotypings revealed 63,XXY consistently. All 21 chromosomes showed trisomy except for D group. The sex chromosome was XXY, and the genital tract and gonad were those of female.
Female ; Humans

Superficial angiomyxoma is a comparatively rare dermal and subcutaneous tumor. We report a case of superficial angiomyxoma of the thumb in view of its rarity and typical light and electronmicroscopic features. The patient was a 46-year-old male. who presented with an asymptomatic, slowly enlarging mass that developed in the left thumb over the 5 years. He had a history of trauma and electric burn in the same area 20~30 years ago. Simple X-ray and magnetic resonance imaging revealed 35x30mm, mass with destruction of distal phalangeal bone. On operation, the lesion was moderately well circumscribed and soft with lobulated nodules that elevated the overlying skin and destroyed the underlying bone. The cut surface of the mass was glistening and slimy. The mass was whitish gray and lobulated. Bony involvement was not present. Microscopically, the tumor was composed of stellated and spindle shaped stromal cells which were scattered throughout myxoid ground substance. Neither nuclear hyperchromasia nor plemorphisam was present. Small to medium sized thin walled blood vessels were scattered. There was a scanty infiltrate of inflammatory cells. The S-100 protein immunostaining was negative in tumor cells. On electron microscopy, the cytoplasm of the stromal cells contained well developed rough ednoplasmic reticulums and other features that indicated differentiation toward fibroblasts.

No abstract available.
Ciliary Motility Disorders*

OBJECTIVE: Amniocentesis is the most commonly used invasive method for prenatal diagnosis of genetic disorders. We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of midtrimester amniocentesis. METHODS: We retrospectively analyzed 785 cases of midtrimester prenatal genetic amniocentesis which were performed in the cytogenetics laboratory using in situ coverslip culture at Dong-A University Hospital from January 1995 to March 2003. RESULTS: Amniocentesis was practiced mostly from 15 weeks to 20 weeks of gestational ages. Requested indications of amniocentesis were abnormal maternal serum screening (421, 53.7%), advanced maternal age (233, 29.7%) and abnormal ultrasonographic finding (61, 7.8%) in the order of decrease. The overall incidence of chromosome abnormalities was 5.1% (40 cases), and it contains 27 cases (3.4%) of numerical abnormalities and 13 cases (1.7%) of structural abnormalities. Among autosomal abnormalities Down syndrome was most common (13 cases) and followed by Edward syndrome (2 cases). Of the sex chromosomal abnormalities, three cases of Turner syndrome and three cases of Kleinefelter syndrome were found. Chromosomal abnormalities were most frequently noted in the maternal age of 30 to 34 years old (14 cases, 35.0%), 25 to 29 years old (12 cases, 30.0%), followed by 35 to 39 years old (7 cases, 17.5%). The frequency of pseudomosaicism were 5 cases (0.6%). CONCLUSION: Maternal serum screening, advanced maternal age and antenatal ultrasonographic finding must be important screening methods for amniocentesis which is considered to the most effective diagnostic procecdure for prenatal cytogenetic studies. I conclude that the karyotyping analysis of midtrimester amniocentesis is efficacious method for detection of chromosomal aberration and genetic counselling for parents.
Adult ; Amniocentesis* ; Chromosome Aberrations ; Cytogenetic Analysis* ; Cytogenetics* ; Down Syndrome ; Female ; Gestational Age ; Humans ; Incidence ; Karyotyping ; Mass Screening ; Maternal Age ; Parents ; Pregnancy ; Pregnancy Trimester, Second* ; Prenatal Diagnosis ; Retrospective Studies ; Turner Syndrome

MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. It is characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. These children develop short stature and either a focal or generalized seizure disorder. Ultimately, the patient presents with an acute hemiparesis that can alternate from side to side. In this article, we report the MELAS in siblings having point mutation in the mitochondrial DNA with an A to G transition at the 3,243rd position. MELAS is recognized as one of the several distinct syndromes containing cerebral infarct. And, mitochondrial DNA analyses, serum lactate level, and muscle biopsy are diagnostic clue of this syndrome.
Acidosis, Lactic ; Biopsy ; Child ; DNA, Mitochondrial ; Epilepsy, Generalized ; Humans ; Lactic Acid ; MELAS Syndrome* ; Mitochondrial Encephalomyopathies ; Paresis ; Point Mutation ; Siblings*

Double aortic arch is the most common type of symptomatic vascular ring. In most patients, the symptoms are manifested at birth or in early infancy. Double aortic arch usually has more severe symptoms than other types of complete vascular rings. We experienced one case of complete duplicated double aortic arch with left descending aorta and left patent ductus arteriosus. A one-day-old female neonate was transferred to our hospital because of mild dyspnea and stridor. She showed intractable CO2 retention and respiratory difficulty with time in spite of ventilator therapy. She died of respiratory failure 23 hours after birth. On autopsy, we found that the diameter of the vascular ring was 0.7cm in maximum extent. It was ovoid and contained trachea and esophagus. The trachea was flattened due to allowing 0.1x0.2cm. The compression level of the trachea was approximately 1cm from the tracheal bifurcation.
Aorta, Thoracic* ; Autopsy* ; Ductus Arteriosus, Patent ; Dyspnea ; Esophagus ; Female ; Heart Defects, Congenital ; Humans ; Infant, Newborn ; Parturition ; Respiratory Insufficiency ; Respiratory Sounds ; Trachea ; Ventilators, Mechanical

No abstract available.
Niemann-Pick Disease, Type A*

PURPOSE: To analyze the overall clinical outcome, overall assessment, and patient's satisfaction rate of subtalar arthrodesis using the cannulated compression screw. MATERIALS AND METHODS: This study is based on 17 patients, 17 feet who underwent subtalar arthrodesis using the cannulated compression screw from March, 1997 to March, 2004 with at least 1 year follow-up. The average follow-up period was 33.0 months (12 to 72 months). Functional results were assessed using the American Orthopaedic Foot and Ankle Society Ankle-Hindfoot (AOFAS) score, and Visual Analysis Scale (VAS) pain score, patients' returning to previous occupation and patients' satisfaction rate were also evaluated. RESULTS: The mean AOFAS scores at final follow-up were 80.4 points (range 66~92). The satisfactory rates were as follow. Thirteen patients (76.4%) were at least satisfied with surgical result at final follow-up. Patients' VAS pain score was average 2.8 points (1~6). Fourteen (82.3%) patients returned to previous job at mean postoperative period of 11.3 months (range 3-18 months). Patients' work efficiency after returning to previous occupation was 68.7% (range 33~100%). There were 9 complications which were 3 cases of sural nerve injury, 1 case of valgus malunion, and 5 cases of the hindfoot residual pain. CONCLUSION: We obtained the satisfactory functional results with relatively high patient satisfaction rate of 76%. So we conclude that subtalar arthrodesis using the cannulated compression screw is a reliable method for addressing the painful end-stage subtalar osteoarthritis and unreconstructible comminuted calcaneal fractures. However we also found out that average 11 months were necessary for patients to return to their job.
Ankle ; Arthrodesis* ; Follow-Up Studies ; Foot ; Humans ; Occupations ; Osteoarthritis ; Patient Satisfaction ; Postoperative Period ; Sural Nerve

PURPOSE: To analyze the overall clinical outcome, overall assessment, and patient's satisfaction rate of subtalar arthrodesis using the cannulated compression screw. MATERIALS AND METHODS: This study is based on 17 patients, 17 feet who underwent subtalar arthrodesis using the cannulated compression screw from March, 1997 to March, 2004 with at least 1 year follow-up. The average follow-up period was 33.0 months (12 to 72 months). Functional results were assessed using the American Orthopaedic Foot and Ankle Society Ankle-Hindfoot (AOFAS) score, and Visual Analysis Scale (VAS) pain score, patients' returning to previous occupation and patients' satisfaction rate were also evaluated. RESULTS: The mean AOFAS scores at final follow-up were 80.4 points (range 66~92). The satisfactory rates were as follow. Thirteen patients (76.4%) were at least satisfied with surgical result at final follow-up. Patients' VAS pain score was average 2.8 points (1~6). Fourteen (82.3%) patients returned to previous job at mean postoperative period of 11.3 months (range 3-18 months). Patients' work efficiency after returning to previous occupation was 68.7% (range 33~100%). There were 9 complications which were 3 cases of sural nerve injury, 1 case of valgus malunion, and 5 cases of the hindfoot residual pain. CONCLUSION: We obtained the satisfactory functional results with relatively high patient satisfaction rate of 76%. So we conclude that subtalar arthrodesis using the cannulated compression screw is a reliable method for addressing the painful end-stage subtalar osteoarthritis and unreconstructible comminuted calcaneal fractures. However we also found out that average 11 months were necessary for patients to return to their job.
Ankle ; Arthrodesis* ; Follow-Up Studies ; Foot ; Humans ; Occupations ; Osteoarthritis ; Patient Satisfaction ; Postoperative Period ; Sural Nerve

No abstract available.
Hepacivirus ; Hepatitis C* ; Hepatitis*