No abstract available.
Chilblains*

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.
Abnormalities, Multiple/genetics ; Aneuploidy ; Chromosome Disorders/diagnosis/genetics ; *Chromosomes, Human, Pair 22/genetics ; Coloboma/genetics ; Craniofacial Abnormalities/genetics ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Phenotype ; *Tetrasomy ; Ultrasonography, Prenatal

We report two cases of cranial metastasis hepatocellular carcinomas in young adults of their early 30s, with intracerebral hemorrhage. Both patients experienced minor head trauma several days before the onset of neurological deterioration. Detailed description of cases and review of the relevant literatures are presented with emphasis on the presumptive role of minor head trauma and pertinent magnetic resonance features.
Carcinoma, Hepatocellular* ; Cerebral Hemorrhage ; Craniocerebral Trauma* ; Head* ; Humans ; Neoplasm Metastasis* ; Young Adult

Extramammary Pagets disease(EMPD) of the vulva is an uncommon neoplasm which accounting for 2.5% of all vulvar malignancies and 0.02% of all female cancer. Several hundred cases have been reported worldwide since the first description by sir James Paget in 1874, It generally affects postrnenopausal age poup and presents high rate of recurrence but the precise incidence remines unclear, Although Paget's disease of the breast and the vulva are histologically similar, their histogenesis and biological behavior are considered to be significantly different and EMPD has gcnerally perceived rnore benign compared to that of the breast. Four histologic forms of vulvar EMPD have been recognized and treated vulvar EMPD in according to the 4 histologic classification. The high rate of recurtence disease remains a challenge for optimal management. Recently we experienced a case of Paget's disease of the vulva, diagnosed as an intraepithelial Pagets disease preoperatively and underwent radical vulvectomy and superiomedial thigh(SMT) flap, and present with a brief review of literature.
Breast ; Classification ; Female ; Humans ; Incidence ; Paget's Disease, Mammary ; Recurrence ; Vulva*

BACKGROUND AND OBJECTIVES: Recently, the result of total correction in tetralogy of Fallot(TOF) is improved dramatically. But, residual anatomical changes of right ventricular outflow tract(RVOT) and pulmonary artery junctional stenosis result in bad prognosis. Therefore we sought to analyze risk factors for pulmonary artery junctional stenosis after correction of TOF. METHODS: From 1991 to 1998, 146 patients underwent the follow-up catheterizations after total correction of TOF in our institution and were analysed risk factors for pulmonary artery junctional stenosis. Of this patients group [age on operation 20.119.8 months, follow-up duration after operation 13.95.0 months, male(64%)], 20 cases(13.7%) had a PDA and 26 cases(17.8%) had a systemic-to-pulmonary shunt operation before total correction of TOF. RESULTS: 1) Residual PS is correlated significantly with post-operative RVP/LVP(r=.776, p<0.01) and post-operative RVEDP(r=.196, p<0.05). 2) Post-operative RVP/LVP and residual PS increased significantly in grade II of residual PI than grade III~IV. 3) The left pulmonary artery junctional stenosis(LPAJS) was observed in 31 cases, this group decreased significantly in pre-operative LPA diameter(p<0.01), increased in post-operative RVP/LVP(p<0.01), and increased in post-operative RPA diameter(p<0.01), decreased in post-operative LPA diameter(p<0.01) and was more severe in post-operative PI(p<0.01) than the other group respectively. 4) Of the patients group which went patch enlargement of RVOT to LPA junction, the pressure gradient on LPA junction increased significantly in PDA and false aneurysmal change. 5) Factors significantly associated with pulmonary artery junctional stenosis were patch enlargement of RVOT to LPA junction, aneurysmal change of RVOT, PDA, systemic-to-pulmonary shunt and pre-operative LPAJS. 6) LPAJS(P, mmHg) =5.43 +16.24*[false aneurysmal change of RVOT] +14.13*[RVOT patch enlargement to LPA] +16.89*PDA. CONCLUSION: Several factors significantly associated with pulmonary artery junctional stenosis influenced each other. And the LPAJS led to secondary changes (volume overload of RV, increasing diameter of RPA, et. al) therefore more active diagnosis and treatment after total correction is recommended.
Aneurysm ; Aneurysm, False ; Catheterization ; Catheters ; Constriction, Pathologic* ; Diagnosis ; Follow-Up Studies ; Humans ; Prognosis ; Pulmonary Artery* ; Risk Factors* ; Tetralogy of Fallot*

OBJECTIVE: Lumbar spinal stenosis is increasingly recognized as a common cause of low back pain in elderly patients. Conservative treatment has been initially applied to elderly patients, however, surgical treatment is sometimes indispensable to relieve severe pain. We retrospectively examine the age-related effects on the surgical risk, and results following general anesthesia and operative procedure in geriatric patients for two different age groups of at least 65years old. METHODS: Consecutive 51patients (> or = 65years), who underwent open surgical procedure for degenerative lumbar spinal stenosis, were selected in the study. Patients were divided into two groups. Group A included all patients who were between 65 and 69years of age at the time of surgery. Group B included all patients who were at least 70years of age at the time of surgery. We reviewed medical history including preoperative American Society of Anesthesiologists(ASA) classification of physical status, anesthetic risk factor, operative time, estimated blood loss, transfusion requirements, hospital stay, operated level, and clinical outcome to look for comparisons between two age groups (65~69 and over 70years). RESULTS: In preoperative evaulation, mean anesthetic risk factor of patients was numerically similar between the groups. The American Society of Anesthesiologists classification of physical status was similar between two groups. There was no difference in operated level, operative time, estimated blood loss, hospital stay, and anesthetic risk factor between the two groups. The clinical successful outcome showed 82.7% for Group A and 81.8% for group B. The overall postoperative complication rates were similar for both group A and B. CONCLUSION: We conclude that advanced age per se, did not increase the associated morbidity and mortality in surgical decompression for spinal stenosis.
Aged ; Anesthesia, General ; Classification ; Decompression, Surgical ; Humans ; Length of Stay ; Low Back Pain ; Mortality ; Operative Time ; Postoperative Complications ; Retrospective Studies ; Risk Factors ; Spinal Stenosis* ; Surgical Procedures, Operative

Tonsillar lymphangiomatous polyp is an uncommon hamartomatous lesion that generally arises from the tonsillar surface. Due to the uncommon clinical and pathological features of these polyps, pathologist and clinician may experience difficulty in correctly classifying them. Although this is a rare clinical and pathologic entity for pathologists and clinicians, the diagnosis is not so difficult if one has a bit of experience about that. Recently, we experienced a 37-year-old women with a pale lymphangiomatous polyp of 3x1.5 cm size, which was treated by tonsillectomy. We report this case with a review of literature.
Adult ; Female ; Humans ; Isothiocyanates ; Palatine Tonsil ; Polyps ; Tonsillectomy

The existence of primary brancial cleft cyst carcinoma is controversial since first described by Volkmann in 1882. Martin and Khafif proposed criteria for diagnosis of primary branchiogenic carcinoma, which are now widely accepted in the literature. The most important criterion is the presence of squamous cell carcinoma arising from the benign squamous epithelium of branchial cleft cyst. We report a case of a 69-year-old man with branchial cleft cyst carcinoma, which was suspected to be cervical lymph node metastases from an unknown primary tumor. The subject underwent a surgical operation, and postoperative pathologic findings revealed a squamous cell carcinoma developing in the stratified squamous epithelial lining of the branchial cleft cyst. This case meets the criteria established by Martin and Khafif, thus we present it with a review of literature.
Aged ; Branchial Region* ; Branchioma* ; Carcinoma, Squamous Cell* ; Diagnosis ; Epithelium ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Neoplasms, Unknown Primary

No abstract available.
Costello Syndrome ; Keratoderma, Palmoplantar