Anhidrotic ectodermal dysplasia (AED) is characterized by a well-known tetrad of anhidrosis, hypotrichosis, hypodontia, and typical facies with a wide constellation of developmental defects of tissues derived from the ectoderm. Most of these patients have normal or borderline normal intelligence, but some present with mental retardation. A 15-year-old boy and his younger brother were evaluated for dry skin and intolerance to heat since their births. Their parents and other brother were normal. Both of them had atopic dermatitis. A skin biopsy was done on their left axilla, which showed a few immature eccrine glands in the dermis. We report herein two rare cases of AED in siblings with atopic dermatitis.
Adolescent ; Anodontia ; Axilla ; Biopsy ; Dermatitis, Atopic* ; Dermis ; Eccrine Glands ; Ectoderm ; Ectodermal Dysplasia* ; Facies ; Hot Temperature ; Humans ; Hypohidrosis ; Hypotrichosis ; Intellectual Disability ; Intelligence ; Male ; Parents ; Parturition ; Siblings* ; Skin

BACKGROUND: Intravenous urography(IVU) has long been accepted as the primary radiologic study for the diagnosis of renal colic. But the IVU does pose disks of contrast material reactions and exposure to radiation. Recently, IVU has been challenged as a first line modality and ultrasonography proposed as a replacement. We, therefore, felt obliged to re-evaluate the IVU, KUB and ultrasonography as diagnostic tools. METHODS: We evaluate the sensitivity and specificity of ultrasound, IVU and KUB in detecting urinary calculi in suspected acute renal colic, a prospective study of 69 patients, both sides of kidney and ureter, who visited urban university hospital emergency center from September 1997 to January 1998. Our sonographic criteria far a positive examination consisted of visualization of urinary tract calculus and/or hydronephrosis and/or urinoma. RESULTS: In Ultrasonography, the accuracy, sensitivity and specificity were 94, 94 and 94%. In IVU and KUB, they were 90, 81, 98% and 71, 43, 96%. CONCLUSION: Ultrasonography is very useful diagnostic tool in initial evaluation of acute renal colic.
Calculi ; Diagnosis ; Emergencies ; Humans ; Hydronephrosis ; Kidney ; Prospective Studies ; Renal Colic* ; Sensitivity and Specificity ; Ultrasonography* ; Ureter ; Urinary Calculi ; Urinary Tract ; Urinoma

Fibrous hamartoma of infancy (FHI) is an uncommon, benign, solitary intradermal or subcutaneous tumor. It occurs typically in the axillary or shoulder region. The histopathologic examination of affected lesion shows the characteristic elements: dense fibrous tissue, adipose tissue, and primitive mesenchymal tissues. A 15 month-old girl had the multiple, asymptomatic, discrete, and skin-colored tumors that scattered on the scalp. These were present at birth. We report a rare case of FHI occurred on the scalp with multiple and congenital characteristics.
Adipose Tissue ; Female ; Hamartoma* ; Humans ; Parturition ; Scalp ; Shoulder

Lymphangiectasia(acquired lymphangioma) is characterized clinically by the presence of a circumscribed eruption of thin-walled, translucent vesicles which closely resemble frog spawn in appearance. This rare disorder may arise as a result of acquired lymphatic obstruction secondary to surgery, irradiation, chronic recurrent infection, chronic scarring, or trauma. Herein, we report a case of atypical lymphangiectasia at the site of an abdominal scar in a 70-year-old female. She developed a dark red-colored, pedunculated papule, 2 years after a total abdominal hysterectomy and post-operative irradiation for carcinoma of the uterine cervix. Histopatholgical findings showed multiple irregularly shaped cystic dilatated cells lined by a single layer of endothelium in the dermis. Immunohistochemical staining with factor VIII-related antigen showed negative results. A lymphangiogram showed signs of acquired lymphatic obstruction.
Aged ; Cervix Uteri ; Cicatrix* ; Dermis ; Endothelium ; Female ; Humans ; Hysterectomy ; von Willebrand Factor

Hemiballism-hemichorea is a rare movement disorder that presents unilateral flinging movements of the limbs. Recent studies pointed non-ketotic hyperglycemia as an underlying cause of this movement disorder. We report an elderly women with irregular, involuntary movement of the limbs after her uncontrolled diabetes mellitus was successfully managed by the control of glucose level. Characteristic magnetic resonance imaging findings and the management of this condition were discussed.
Aged ; Diabetes Mellitus ; Dyskinesias ; Extremities ; Female ; Glucose ; Humans ; Hyperglycemia ; Magnetic Resonance Imaging ; Movement Disorders*

Between January 1994 and February 1996 lumbar fusion was carried out in eight patients who had degenerative lumbar disease by a technique of translaminar facet screw fixation. The goal of instrumentation is to confer immediate stability to unstable segments and lower the pseudarthrosis rate. However, transpedicular systems can carry a risk of neural damage and require a high standard surgical skills. Therefore, the purpose of this study was to determine the efficacy and safety, and to introduce the simple fusion technique. We usually used this technique for the patients who had been planned single level fusion without definite preoperative instability. Preoperative diagnosis were isthmic spondylolisthesis in one, spinal stenosis in three and laterally herniated lumbar discs in four in which postoperative instability was expected without performing fusion. A single-level fusion was perfomed in all patients. Fusion levels were L2-3 in two, L3-4 in one, L4-5 in four and L5-Sl in one. The average follow-up period was 20 months, ranging from 12 to 36 months. Overall clinical satisfaction including excellent and good result was obtained in all cases. The fusion rate was evaluated radiographically and all were solidly fused. The time to fusion ranged from 3 to 10 months at an average of 5.4 months. There were no significant complications including nerve root injury, and screw loosening or breakage. Although this study was retrospective and the number of cases were small, translaminar facet screw fixation for degenerative lumbar disease is simple and readily available, and provides sufficient rigid stabilization.
Diagnosis ; Follow-Up Studies ; Humans ; Pseudarthrosis ; Retrospective Studies ; Spinal Stenosis ; Spine* ; Spondylolisthesis

During the arthroscopic surgery of the shoulder, there was extravasation of fluid into the surrounding soft tissue due to the use of pressure pump irrigator. Clinically, the shoulder region became tense and intramuscular pressure of the deltoid could be elevated. To analyze the change of the intramuscular pressure of the deltoid and the efficiency of cryotherapy in the shoulder arthroscopy with pressure pump, we studied 35 consecutive patients who underwent various arthroscopic shoulder procedures at the Dankook University Hospital. We monitored intramuscular pressure using spinal needle connected to the patient monitoring system during arthroscopic procedures and postoperative period until return to preoperative pressure level. Twenty-seven patients were fitted with a cryotherapy. device in the operating room, and 8 were not according to the patient opinions. We evaluated the effect of cryotherapy with visual analog scales and amounts of analgisics for 3 days postoperatively. The results were followed; 1. Intraoperative highest intramuscular deltoid pressure was 293mmHg (average 169+/-68mmHg, 71293mmHg). 2. Immediate postoperative deltoid pressure was average 58.3+/-28.1mmHg (24-145mmHg). 3. Average time that the pressure had returned to the preoperative level was 114.3+/-38.6 minutes (p<0.05). There were no statistically significant between two groups, 113.9+/-41.1 min in the cryotherapy group and 115.7+/-32.6 min in the non-cryotherapy group. 4. Shoulder pain was less in the cryotherapy cases until second postoperative day. In conclusion, arthroscopic surgery of the shoulder can be performed with minimal complication in spite of high intramuscular deltoid pressure. More than 60 minutes may be needed for returning to normal intramuscular deltoid pressure. Cryotherapy is eftective in the pain relief but cannot minimize swelling postoperatively.
Arthroscopy* ; Cryotherapy* ; Humans ; Monitoring, Physiologic ; Needles ; Operating Rooms ; Postoperative Period ; Shoulder Pain ; Shoulder* ; Transcutaneous Electric Nerve Stimulation ; Visual Analog Scale

PABAP (Palindrome Analysis by BLAST Program) is an analysis system that identifies palindromic sequences from a large genome sequence up to several megabases long. It uses NCBI BLAST as a searching engine, and data processing such as alignment filtration and detection of inverted repeats which satisfy user- defined parameters is performed by manipulating data after populating into a MySQL database. PABAP outperforms publicly available palindrome search program in that it can detect large palindrome with internal spacer at a faster speed from bacterial genomes. It is a standalone application and is freely available for noncommercial users. AVAILABILITY: This application was implemented with free software (Perl, Apache, MySQL, and NCBI BLAST) and is freely available to noncommercial users upon request. Analysis of user data can be carried out directly at http://chimp.kribb.re.kr/~javamint/palindrome.
APACHE ; Filtration ; Genome* ; Genome, Bacterial

The large animal model with benign biliary stricture (BBS) is essential to undergo experiment on developing new devices and endoscopic treatment. This study conducted to establish a clinically relevant porcine BBS model by means of endobiliary radiofrequency ablation (RFA). Endoscopic retrograde cholangiography (ERC) was performed on 12 swine. The animals were allocated to three groups (60, 80, and 100 W) according to the electrical power level of RFA electrode. Endobiliary RFA was applied to the common bile duct for 60 seconds using an RFA catheter that was endoscopically inserted. ERC was repeated two and four weeks, respectively, after the RFA to identify BBS. After the strictures were identified, histologic evaluations were performed. On the follow-up ERC two weeks after the procedure, a segmental bile duct stricture was observed in all animals. On microscopic examination, severe periductal fibrosis and luminal obliteration with transmural inflammation were demonstrated. Bile duct perforations occurred in two pigs (100 W, n = 1; 80 W, n = 1) but there were no major complications in the 60 W group. The application of endobiliary RFA with 60 W electrical power resulted in a safe and reproducible swine model of BBS.
Animal Experimentation ; Animals ; Bile Ducts ; Catheter Ablation* ; Catheters ; Cholangiography ; Common Bile Duct ; Constriction, Pathologic* ; Electrodes ; Endoscopes ; Fibrosis ; Follow-Up Studies ; Inflammation ; Models, Animal ; Phenobarbital ; Swine*

BACKGROUND/AIMS: The aim of this study is to assess the therapeutic benefits of a combination of external beam radiation therapy (EBRT) and intraluminal brachytherapy (ILBT) in hilar cholangiocarcinoma as palliative therapy. METHODS: A total of 21 patients with hilar cholangiocarcinoma were included. Only 12 patients were treated with EBRT (group 1), and only nine patients were treated with EBRT and ILBT (group 2). The survival data and stent patency period were measured in both groups and the results were compared. RESULTS: No statistically significant difference in patient survival was observed between the two groups. The median survival period of group 1 was 353 days and that of group 2 was 224 days. Also, stent patency did not differ significantly between groups. The period for group 1 was 250 days, and that of group 2 was 133 days. In addition, there were no other factors influencing patient survival and stent patency period. However, patient survival tended to increase with increase in the amount of irradiation dose (Spearman's correlation coefficient=0.65, p=0.065). CONCLUSIONS: EBRT with ILBT did not have a benefit when compared with the treatment effect of EBRT alone as palliative therapy for hilar cholangiocarcinoma.
Brachytherapy* ; Cholangiocarcinoma* ; Humans ; Palliative Care* ; Radiation Dosage ; Radiotherapy ; Stents ; Survival Analysis