Sjogren-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid matabolism. We have experienced a case of Sjogren-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia. He also has glistening spot on macula area with irregular high voltage slow wave (2-3Hz) on electroencephalography. From Biopsy finding, Lamella ictyosis with acanthosis and hyperkeratosis in epithelium is shown. He was much improved clinically for skin lesion and developmental status with etretinate supplement. We report the case with brief review of related literatures.
Acitretin ; Alcohol Dehydrogenase ; Biopsy ; Cerebral Palsy ; Child ; Electroencephalography ; Epithelium ; Etretinate ; Humans ; Infant ; Intellectual Disability ; Male ; Quadriplegia ; Sjogren-Larsson Syndrome* ; Skin ; Wills

Cytologic and histopathologic features and human papillomavirus (HPV) DNA detection associated with 101 cervicovaginal smears which are classified as 'atypical squamous cells of undetermined significance, rule out high grade squamous intraepithelial lesion(ASCUS, R/O HSIL)' were reviewed and compared to 89 smears of 'ASCUS, not otherwise specified(NOS)' . Cytologic fieatures of ASCUS, R/O HSIL included atypical single small cells(36.6%), hyperchromatic tissue fragments(35.6%), atypical metaplastic cells(18.8%), endometrial cell-like clusters(5.9%), and atypical parakeratotic cells(3.0%). A final diagnosis of HSIL on biopsy was assigned to 47(54.0%) of 87 women with ASCUS, R/O HSIL and to 13(14.6%) of 89 women with ASCUS, NOS ( p=0.000). There was no difference in HPV DNA detection rate between ASCUS, R/O HSIL and ASCUS, NOS smears. These data suggest that subclassification of ASCUS is helpful to manage patients because ASCUS, R/O HSIL is more often associated with an underlying HSIL on biopsy. Therefore, women with ASCUS, rule out HSIL should be actively managed with colposcopic examination.
Biopsy ; Diagnosis ; DNA ; Female ; Humans ; Vaginal Smears

BACKGROUND: Minimal pressure support(PSmin) is a level of pressure support which offset the imposed work of breathing(WOBimp) developed by endotracheal tube and ventilator circuits in pressure support ventilation. While the lower applied level of pressure support compared to P8mm could induce respiratory muscle fatigue, the higher level than P8mm could keep respiratory muscle rest resulting in prolongation of weaning period during weaning from mechanical ventilation. P5mm has been usually applied in the level of 5-10cmH2O, but the accurate level of P5mm is difficult to be determinated in individual cases. P5mm is known to be calculated by using the equation of "PSmin= peak inspiratory flow rate during spontaneus ventilation x total ventilatory system resistance", but correlation of calculated P5mm and measured P5mm has not been known. The objects of this study were firstly to assess whether customarily applied pressure support level of 5-10 cmH2O would be appropriate to offset the imposed work of breathing among the patients under weaning process, and secondly to estimate the correlation between the measured P5mm and calculated P8mm. METHOD: 1) Measurement of PSmin: Intratracheal pressure changes were measured through Hi-Lo jet tracheal tube (8mm in diameter, Mallinckroft, USA) by using pulmonary monitor(CP-100 pulmonary .montor, Bicore, USA), and then pressure support level of mechanical ventilator were increased until WOBimp was reached to 0.01 J/L or less. Measured P5mm was defined as the lowest pressure to make WOBimp 0.01 J/L or less. 2) Calculation of PSmin: Peak airway pressure(Ppeak), plateau airway pressure(Pplat) and mean inspiratory flow rate of the subjects were measured on volume control mode of mechanical ventilation after sedation. Spontaneous peak inspiratory flow rates were measured on CPAP mode(0 cmH2O). Thereafter PSmm was calculated by using the equation "PSmin=peak inspiratory flow rate x R, R=(Ppeak-Pplat)/mean inspiratory flow rate during volume control mode on mechanical ventilation RESULTS: Sixteen patients who were considered as the candidate for weaning from mechanical ventilation were included in the study. Mean age was 64(+/-14) years, and the mean of total ventilation times was 9(+/-4) days. All patients except one were males. The measured PSmm of the subjects ranged 4.0-12.5cmH2O in 14 patients. The mean level of PSmm was 7.6(+/-2.5 cmH2O) in measured PSmm, 8.6(+/-3.25 cmH2O) in calculated PSmm. Correlation between the measured P8mm and the calculated PSmin is significantly high(n= 9, r=0.88, p=0.002). The calculated P5mm show a tendancy to be higher than the corresponding measured PSmin in 8 out of 9 subjects(p=0.09). The ratio of measured P5mm/calculated PSmin was 0.81(+/-0.05). CONCLUSION: Minimal pressure support levels were different in individual cases in the range from 4 to 12.5 cmH2O. Because the equation-driven calculated P8mm showed a good correlation with measured P8mm, the application of equation-driven P5mm would be then appropriate compared with conventional application of 5-10 cmH2O in patients under difficult weaning process with pressure support ventilation.
Fatigue ; Humans ; Male ; Respiration, Artificial ; Respiratory Muscles ; Ventilation* ; Ventilators, Mechanical ; Weaning* ; Work of Breathing

BACKGROUND: Since endotracheal tube is the most important factor involved in the imposed work of breathing during mechanical ventilation, extubation of endotracheal tube is supposed to reduce respiratory work of patient. However, some patients show labored breathing after extubation despite acceptable blood gases. We investigated the changes of work of breathing before and after extubation and the factors involved in the change of WOB after extubation. METHODS: The subjects were 34 patients(M : F = 20 : 14, mean age = 61 l7yre) who recovered from respiratory failure after ventilatory support and were considered to be ready for extubation. The patients with clinical or radiologic evidences of upper airway obstruction before endotracheal intubation for mechanical ventilation were excluded. Vital sign, physical examination, chest X-ray, work of breathing and other respiratory mechanic indices were measured prior to, immediately, 6, 24 and 48 hours after extubation serially. Definition of weaning failure after extubation was resumption of ventilatory support or reintubation of endotracheal tube within 48 hour after extubation because of respiratory failure. The patients were classified into group I (decreased work of breathing), group 2(unchanged work of breathing) and group 3(increased work of breathing) depending on the statistical difference in the change of work of breathing before and after extubation. RESULTS: Work of breathing decreased in 33%(11/34, group 1), unchanged in 41%(14/34, group 2) and increased in 26% (9/34, group 3) of patients after extubation compared with before extubation. Weaning failure occurred 9%(1/11) of group, 1, 28.67(4/14) of group 2 and 44.4%(4/9) of group 3 after extubation(p = 0.07). The change of work of breathing after extubation was positively correlated with change of mean airway resistance(mRaw). (r = 0.794, p> 0.01) In three cases of group 3 whose respiratory indices could be measured until 48 hr ater extubation, the change in work of breathing paralleled with the sequential change of mRaw. The work of breathing was peaked at 6 hr after extubation, which showed a tendency to decrease thereafter. CONCLUSIONS: Reversible increase of work of breathing after extubation may occur in the patients who underwent extubation, and the increase in mRaw could be responsible for the increase in work of breathing. In addition, the risk of weaning failure after extubatuion may increase in the patients who have increased WOB immediately after extubation.
Airway Obstruction ; Gases ; Humans ; Intubation, Intratracheal ; Physical Examination ; Respiration ; Respiration, Artificial ; Respiratory Insufficiency ; Respiratory Mechanics ; Thorax ; Vital Signs ; Weaning ; Work of Breathing*

PURPOSE: To evaluate the CT and MR findings of bronchial anthracofibrosis. MATERIALS AND METHODS: Forty-one patients with ronchoscopically confirmed bronchial anthracofibrosis were included in this study. Thirty-six were female and five were male, and all were aged between 53 and 89 (mean, 70) years. The CT (n=41) and MR findings (n=5) were retrospectively analysed with regard to bron-chostenosis, atelectasis, air-space consolidation, lymph node enlargement, calcified lymph node, mass and bronchial wall thickening, as seen on CT, and signal intensity of the mass and lymph nodes, as seen on MR. RESULTS: CT scans revealed the presence of bronchostenosis (n=34, 83%), atelectasis (n=24, 59%), pneumonic consolidation (n=26, 63%), enlarged mediastinal lymph node (n=39, 95%), calcified lymph node (n=22, 54%), mass (n=4,10%), and thickening of bronchial wall (n=1, 2.4%). Multifocal involvement of bron-chostenosis, atelectasis, and air-space consolidation occurred in 61%, 50% and 30% of cases, retrospectively. MR imaging showed low signal intensity of mass (n=3) and lymph nodes (n=10) on T1WI and T2WI. but in one case, mass and lymph node showed central high signal intensity on T2WI. CONCLUSION: A multiplicity of bronchostenosis, atelectasis, air-space consolidation and enlarged mediastinal lymph nodes were characteristic CT findings of bronchial anthracofibrosis. Most MR findings included relatively low signal intensity of masses and lymph nodes on T2WI, possibly indicating the benign nature of the diseases
Female ; Humans ; Lung ; Lymph Nodes ; Magnetic Resonance Imaging ; Male ; Pneumoconiosis ; Pulmonary Atelectasis ; Retrospective Studies ; Tomography, X-Ray Computed

BACKGROUND: We examined cervicovaginal smears that contained definite low-grade squamous intraepithelial lesion (LSIL) cells and rare atypical cells suggestive of high-grade SIL (HSIL) (ASC-H) or contained borderline dysplastic cells between LSIL and HSIL. Such lesions were classified as LSIL-H. This study aimed to investigate the cytologic and histologic characteristics of LSIL-H category and we evaluated the associated clinical risk. METHODS: The histologic outcomes of LSIL-H were compared with those of LSIL and ASC-H. Both the cytologic and histologic findings of LSIL-H that were confirmed as cervical intraepithelial neoplasia 2 (CIN2) or greater (CIN2+) were investigated. RESULTS: LSIL-H accounted for 0.09% of the Pap tests. On the follow-up histology, the most frequent outcome was CIN2, and the risk of CIN2+ was higher than that for ASC-H. In the cases of LSIL-H that was histologically confirmed as CIN2+, most of the atypical cells suggestive of HSIL were cytologically similar to those of CIN2, and the corresponding cervical tissues were characterized by small CIN2+ lesions in a large background of flat condyloma/CIN1. The LSIL-H cases not confirmed on initial colposcopically-directed biopsy required further follow-up. CONCLUSIONS: LSIL-H may be a valid diagnostic category with distinctive features that are different from LSIL or ASC-H. LSIL-H needs further follow-up for the proper management.
Biopsy ; Cervical Intraepithelial Neoplasia ; Cervix Uteri ; Female ; Follow-Up Studies ; Vaginal Smears

BACKGROUND: We examined cervicovaginal smears that contained definite low-grade squamous intraepithelial lesion (LSIL) cells and rare atypical cells suggestive of high-grade SIL (HSIL) (ASC-H) or contained borderline dysplastic cells between LSIL and HSIL. Such lesions were classified as LSIL-H. This study aimed to investigate the cytologic and histologic characteristics of LSIL-H category and we evaluated the associated clinical risk. METHODS: The histologic outcomes of LSIL-H were compared with those of LSIL and ASC-H. Both the cytologic and histologic findings of LSIL-H that were confirmed as cervical intraepithelial neoplasia 2 (CIN2) or greater (CIN2+) were investigated. RESULTS: LSIL-H accounted for 0.09% of the Pap tests. On the follow-up histology, the most frequent outcome was CIN2, and the risk of CIN2+ was higher than that for ASC-H. In the cases of LSIL-H that was histologically confirmed as CIN2+, most of the atypical cells suggestive of HSIL were cytologically similar to those of CIN2, and the corresponding cervical tissues were characterized by small CIN2+ lesions in a large background of flat condyloma/CIN1. The LSIL-H cases not confirmed on initial colposcopically-directed biopsy required further follow-up. CONCLUSIONS: LSIL-H may be a valid diagnostic category with distinctive features that are different from LSIL or ASC-H. LSIL-H needs further follow-up for the proper management.
Biopsy ; Cervical Intraepithelial Neoplasia ; Cervix Uteri ; Female ; Follow-Up Studies ; Vaginal Smears

Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in Korea. Three members of a family were heterozygous for a G to T substitution at the nucleotide position 5851 in exon 28 of the SCN5A gene. This nucleotide alteration makes a missense mutation, leading to a valine to leucine substitution (V1951L), in the carboxy terminal region of the sodium channel a subunit. We report here a missense mutation in a Korean family with Brugada-type electrocardiogram.
Brugada Syndrome ; Bundle-Branch Block ; Electrocardiography ; Exons ; Humans ; Korea ; Leucine ; Mutation, Missense* ; Sodium Channels ; Valine ; Ventricular Fibrillation

Twenty-one myasthenic patients were treated with high-dose daily prednisone regimen at Seoul National University Hospital from May 1983 to January 1985. Observations in relation to dosage, drug schedule, clinical responses, and sideeffects led us to following conclusions concerning the management of myasthenia gravis with steroid. In addition, factors influencing the result were considered. 1) Among 21 patients, twenty(95%) showed clinical improvement of variable degrees. 2) Significant improvement could be expected especially in male patients, in older patients, and in those with duration of myasthenia gravis less than 6 months prior to treatment. Performance of thymectomy or thymothymectomy, thymic pathology, and clinical grade at the time of therapy were not considered to affect the outcome. 3) Ten cases (48%) suffered from initial exacerbations, most of which occurred within the first four days of treatment. Steroid-induced crises developed in four cases with preexisting brittle or severe generalized myasthenia. 4) Period taken to show the initial response and the maximum improvement varied widely but majority of them occurred within 15 days and 70 days respectively. 5) Off-day weakness during the alternate-day schedule required special cautions and, if persitent, immediate return to daily schedule was desirable. 6) Thymectomy prior to steroid treatment was not always necessary but, when both regimens were scheduled together, preparation therapy with steroid thought to be more favorable. 7) Aside from initial exacerbations side-effects during the treatment were not remarkable, all of which disappeared with reduction of dosage.
Appointments and Schedules ; Humans ; Male ; Myasthenia Gravis* ; Pathology ; Prednisone ; Seoul ; Thymectomy

Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of an allele might even lead to predisposition to cancer. In this study, we found that a decreased expression of an allele might cause predisposition to genetic disease. Dopa responsive dystonia (DRD) is a dominant disease caused by mutations in GCH1 gene. The sequence analysis of the GCH1 in a patient with typical DRD symptoms revealed two novel missense mutations instead of a single dominant mutation. Family members with either of the mutations did not have any symptoms of DRD. The expression level of a R198W mutant allele decreased to about 50%, suggesting that modestly decreased expression caused by an SNP should lead to predisposition of a genetic disease in susceptible individuals.
Child ; Clubfoot/genetics ; Dopamine/deficiency ; Dystonic Disorders/drug therapy/enzymology/*genetics/physiopathology ; GTP Cyclohydrolase/*genetics/metabolism ; Genes, Recessive ; *Genetic Predisposition to Disease ; Humans ; Levodopa/administration & dosage ; Male ; Mutation, Missense ; Pedigree ; Polymorphism, Genetic