BACKGROUND: The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND MEHTODS: To disgnose X-linked recessive ichthyosis and detect its carrier, we have investigated distinctive gene deletion and measured gene dosage of steroid sulfatase gene by southern blot hybridization in Korean patients with X-linked recessive ichthyosis. RESULTS: Patients from 8 of 9 unrelated families exhibited deletions, if the steroid sulfatase gene. Of 6 families showing a family history compatible with X-linked recessive inheritance, One family exhibited a normal pattern of hybridization. All but one family showed deletion of steroid sulfatase gene. All three patients lacking a fami1y history of the disease exhibited gene deletions. The ratio of the steroid sulfatsse specific band density to the Factor VIII specific band density was measured in 8 obligate carriers using a laser densitometer. The average ratio exhibited by the car riers was less than half that of normal women. Conclusian: These results suggest that the X-linked recessive ichth osis patient and its carrier can also be diagnosed and detected by Southern blot hybridization of steroid sulfatase gene in Korea.
Blotting, Southern* ; Diagnosis* ; Factor VIII ; Female ; Gene Deletion ; Gene Dosage ; Humans ; Ichthyosis* ; Korea ; Skin ; Steryl-Sulfatase ; Wills

We report herein two cases of pachyonychia congenita in 19-month-old and 7-year-old girls. In addition to severely deformed nails, both had white plaques on the tongue and keratotic papules on the elbows and knees. In the 19-month-old girl, her father showed deformity of the nails and severe hyperkeratosis of the palms and soles, The family history was normal in other case.
Child ; Congenital Abnormalities ; Elbow ; Fathers ; Female ; Humans ; Infant ; Knee ; Nails, Malformed* ; Pachyonychia Congenita* ; Tongue

Transient lower esophageal sphincter (LES) relaxation (TLESR) is defined as LES relaxation without a swallow. TLESRs are observed in both of the normal individuals and the patients with gastroesophageal reflux disorder (GERD). However, TLESR is widely considered as the major mechanism of the GERD. The new equipments such as high resolution manometry and impedance pH study is helped to understand of TLESR and the related esophageal motor activities. The strong longitudinal muscle contraction was observed during development of TLESR. Most of TLESRs are terminated by TLESR related motor events such as primary peristalsis and secondary contractions. The majority of TLESRs are associated with gastroesophageal reflux. Upper esophageal sphincter (UES) contraction is mainly associated with liquid reflux during recumbent position and UES relaxation predominantly related with air reflux during upright position. The frequency of TLESR in GERD patients seems to be not different compared to normal individuals, but the refluxate of GERD patients tend to be more acidic during TLESR.
Esophageal Sphincter, Lower/*physiology ; Esophagogastric Junction/physiology ; Esophagus/*physiology ; Gastroesophageal Reflux/*physiopathology ; Humans ; Muscle Relaxation/physiology

Objectives: . To determine the appropriate anatomical borders of implantation on the temporal bone in a cadaver study, and to develop a simplified surgical technique for Baha Attract implantation through a small incision along the hairline using anatomical evidence and a navigation system. Methods: . In a cadaver study, 20 human adult dry skulls were used to find flat areas of the temporal bone for Baha Attract magnet implantation. Four borders of the “optimal surgical site” were defined: Asterion line, occipitomastoid suture line, sigmoid sinus line, and digastric groove line. In three patients, we implanted the Baha Attract according to the newly developed surgical procedure and validated the feasibility of this technique with a navigation system. Results: . We identified the appropriate position of the implant on the temporal bone, suggesting a simplified surgical technique for Baha Attract with a small incision. We determined the spot of implantation, and the implants were inserted through a small surgical incision (<2.5 cm) under local anesthesia; the procedure lasted approximately 30 minutes. Conclusion . The optimal surgical site of the temporal bone is a safe and easily accessible location for implantation of the Baha Attract.

PURPOSE: Conventional contrast dacryocystography(C-DCG) has been used mainly for anatomical assessment of the lacrimal drainage apparatus, due to its limited information on the dynamics of the lacrimal system, and thus correlation role in epiphora. The purpose of study was to improve the diagnostic value in epiphora by utilizing RI dacryocystography(RI-DCG) with quantitative criteria. MATERIALS AND METHODS: The patient for RI dacryocystography set erect with the head fixed in front of gamma camera fitted with a standard 6 mm pinhole collimater. Both eyes of 85 patients(170 eyes) were scanned with 99rnTc-pertechnetate followed by conventional dacryocystography. The data from gamma camera were recorded simultaneously on a computer system for subsequent quantitative analysis. RESULTS: In 94 of 96 eyes without epiphora, RI-DCG was correlated with normal C-DCG and % of emptying was at least over 50%. In 58 of 74 eyes with epiphora, RI-DCG was correlated with abnormal C-DCG and % of emptying was at most below 50%. In 16 eyes with functional block, quantitative RI-DCG showed abnormal % of emptying. CONCLUSION: Nuclear DCG with quantitation had higher diagnostic yield in functional block and correlated higher with epiphora. Thus nuclear DCG with quantitation would be a valuable functional test after postprocedures such as dacryocystoplasty.
Computer Systems ; Drainage ; Gamma Cameras ; Head ; Humans ; Lacrimal Apparatus Diseases* ; Radionuclide Imaging*

Edema ; Humans ; Lifting ; Maxillary Sinus ; Sinus Floor Augmentation ; Sinusitis ; Stress, Psychological ; Transplants

Transient cortical blindness is a known but rare complication occurring in 0.3~1% of patients undergoing cerebral or vertebral angiography. It is an extremely rare complication following cardiac catheterizaton and coronary arteriography. Cortical blindness is characterized by complete loss of visual perception and optokinetic nystagmus with preservation of ocular motility, pupillary responses, and normal fundoscopic examination. It has been suggested that its occurrence is due to an adverse reaction to the contrast agent, which causes an osmotic disruption of the blood-brain barrier. Patients outcome appears to be generally favorable with return of vision within 24-48 hr. We report a case of 48 year-old male patient with transient bilateral cortical blindness after coronary angiography.
Angiography ; Blindness, Cortical* ; Blood-Brain Barrier ; Coronary Angiography* ; Humans ; Male ; Middle Aged ; Nystagmus, Optokinetic ; Visual Perception

BACKGROUND: Although degree of motor blockade during high thoracic spinal anesthesia is difficult to determine, pulmonary function may reflect the level of motor blockade. So we checked pulmonary function during spinal anesthesia with two different local anesthetic agents. METHODS: 50 patients, ASA PS 1-2, were randomly divided into two groups. After basal pulmonary function test (FVC: forced vital capacity, FEV1: forced expiratory volume in one second, PEFR: peak expiratory flow rate, PEP: peak expiratory pressure, PIP: peak inspiratory pressure.), the patients received spinal anesthesia with either 0.5% hyperbaric bupivacaine or 0.5% hyperbaric tetracaine. Thirty minutes after injection, level of sensory blockade was checked by pinprick test and pulmonary function test was performed. RESULTS: Almost all the values of pulmonary function reduced after spinal anesthesia, but the degrees of reduction were not differ in two groups except PEP, which reduced more profoundly in tetracaine group than bupivacaine group. CONCLUSIONS: It is more desirable that we use bupivacaine rather than tetracaine as spinal anesthetic agent in the patient with poor pulmonary function.
Anesthesia, Spinal* ; Anesthetics ; Bupivacaine* ; Forced Expiratory Volume ; Humans ; Peak Expiratory Flow Rate ; Respiratory Function Tests ; Tetracaine* ; Vital Capacity

Measlazine(5-Aminosalicylic acid, 5-ASA), a component of Sulfasalazine (sulfapyridine bound to 5-ASA), is used to treat inflammatory bowel disease. Most adverse pulmonary effects caused by sulfasalazine have been attributed to sulfapyridine. However, lung toxicity associated with measlazine(5-ASA) is rare. Here we report a case of eosinophilic pneumonia in a 44-year-old woman with ulcerative colitis, who was treated with mesalazine. She developed symptoms of a dry cough, mild night fever, and evertional dyspnea. Bilateral peripheral pulmonary infiltrates, peripheral blood eosinophilia, and histologic features were consistent with eosinophilic pneumonia. The symptoms improved quite rapidly after the discontinuation of mesalazine and initiation of steroid therapy. Therefore, adverse pulmonary reactions to mesalazine must be considered in a differential diagnosis of pulmonary involvement in patients with inflammatory bowel disease who are receiving with measlazine therapy.
Adult ; Colitis, Ulcerative* ; Cough ; Diagnosis, Differential ; Dyspnea ; Eosinophilia ; Eosinophils* ; Female ; Fever ; Humans ; Inflammatory Bowel Diseases ; Lung ; Mesalamine ; Pulmonary Eosinophilia* ; Sulfapyridine ; Sulfasalazine ; Ulcer*

PURPOSE: The present study investigates the patterns of internal optical aberrations in eyes with different types of cataract. METHODS: Eighty eyes of 70 cataract patients were included in the present study. Internal optical aberrations were measured with a KR-1W wavefront aberrometer before cataract operation. Types of cataract were classified into three groups; cortical, nuclear and posterior subcapsular cataracts. The differences in the results of the wavefront data of 6-mm pupil diameter zones were compared among three groups. The Kruskal-Wallis test and Mann-Whitney U test were used for comparing data. RESULTS: A total of 80 eyes consisting of 30 cortical cataracts, 30 nuclear cataracts and 20 posterior subcapsular cataracts were found. In the 6-mm pupil diameter zone, the average internal spherical aberrations by original value were 0.042 microm of cortical cataracts, -0.092 microm of nuclear cataracts and -0.109 microm of posterior subcapsular cataracts. The average internal spherical aberrations by absolute value were 0.122 microm of cortical cataracts, 0.533 microm of nuclear cataracts and 0.202 microm of posterior subcapsular cataracts. The internal spherical aberrations by original value were not statistically significantly different, but by absolute value were statistically significantly different (p = 0.003, Kruskal-Wallis test). Nuclear cataracts have a much higher positive or negative value than other cataract groups in the distribution of internal spherical aberrations by original value for each type of cataract. Other than this difference, the internal astigmatism and internal high order aberrations were not statistically significantly different. CONCLUSIONS: The change in internal spherical aberrations of nuclear cataract from the original value was larger than cortical and posterior subcapsular cataract. Therefore, nuclear cataracts have much higher positive or negative values than other cataract groups.
Astigmatism ; Cataract* ; Humans ; Pupil