No abstract available.
Paralysis*

Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.
Cataract ; Chondrodysplasia Punctata, Rhizomelic* ; Complement System Proteins ; Contracture ; Extremities ; Fibroblasts ; Humans ; Joints ; Phytanic Acid

OBJECTIVES: The aims of this study are 1) to determine if GAST is a better indicator in predicting ovarian response to COH compared with patient's age or basal FSH level and 2) to evaluate its role in detecting abnormal ovarian response. DESIGN : Prospective study in 118 patients undergoing IVF-ET using GnRH-a short protocol during May-September 1995. MATERIALS AND METHODS: After blood sampling for basal FSH and estradiol (E2) on cycle day two, 0.5 ml (0.525 mg) GnRH agonist (Suprefact, Hoechst) was injected subcutaneously. Serum E2 was measured 24 hours later. Initial E2 difference (deltaE2) was defined as the change in E2 on day 3 over the baseline day 2 value. Sixteen patients with ovarian cyst or single ovary or incorrect blood collection time were excluded from the analysis. The patients were divided into three groups by deltaE2; group A (n=30):deltaE2<40 pg/ml, group B (n=52): 40 pg/ml< or =deltaE2<100 pg/ml, group C (n=20): deltaE2< or =100 pg/ml. COH was done by GnRH agonist/HMG/hCG and IVF-EF was followed. Ratio of E2 on day of hCG injection over the number of ampules of gonadotropins used (E2hCGday/Amp) was regarded as ovarian responsiveness. Poor ovarian response and overstimulation were defined as E2 hCGday less than 600 pg/ml and greater than 5000 pg/ml, respectively. RESULTS: Mean age (+/-SEM) in group A, B and C were 33.7+/-0.8*, 31.5 +/-0.6 and 30.6+/-0.5*, respectively (*: p<0.05). Mean basal FSH level of group A (11.1+/-1.1 mIU/ml) was significantly higher than those of B (7.4+/- 0.2 mIU/ml) and C (6.8+/-0.4 mIU/ml) 0<0.001). Mean E2hCGday of group A was significantly lower than those of group B or C, i.e., 1402.1+/-187.7 pg/ml, 3153.2+/- 240.0 pg/ml, 4078.8+/-306.4 pg/ml respectively (p<0.0001). The number of ampules of gonadotropins used in group A was significantly greater than those in group B or C: 38.6+/-2.3, 24.2+/-1.1 and 18.5+/-1.0 (p<0.0001). The number of oocytes retrieved in group A was significantly smaller than those in group B or C: 6.4+/-1.1, 15.5+/-1.1 and 18.6+/-1.6, respectively (p<0.0001). By stepwise multiple regression, only deltaE2 showed a significant correlation (r=0.68, p<0.0001) with E2HCGday/Amp, while age or basal FSH level were not significant. Likewise, only deltaE2 correlated significantly with the number of oocytes retrieved (r=0.57, p<0.001). All four patients whose COH was canceled due to poor ovarian response belonged to group A only (Fisher's exact test, p<0.01). Whereas none of 30 patients in group A (0%) had overstimulation, 14 patients among 72 patients (19.4%) in group B and C had overstimulation (Fisher's exact test, p<0.01). CONCLUSIONS: These data suggest that initial E2 difference after GAST may be a better prognostic indicator of ovarian response to COH than age or basal FSH level. Since initial E2 difference demonstrates significant association with abnormal ovarian response such as poor ovarian response necessitating cycle cancellation or overstimulation, GAST may be helpful in monitoring and consultation of patients during COH in IVF-ET cycle.
Estradiol ; Female ; Gonadotropin-Releasing Hormone* ; Gonadotropins ; Humans ; Oocytes ; Ovarian Cysts ; Ovary ; Ovulation Induction* ; Prospective Studies

PURPOSE: To evaluate the correlation between colon transit time (CTT) test value and initial maintenance dose of polyethylene glycol (PEG) 4000 or lactulose. METHODS: Of 415 children with chronic functional constipation, 190 were enrolled based on exclusion criteria using the CTT test, defecation diary, and clinical chart. The CTT test was performed with prior disimpaction. The laxative dose for maintenance was determined on the basis of the defecation diary and clinical chart. The Shapiro-Wilk test and Pearson's and Spearman's correlations were used for statistical analysis. RESULTS: The overall group median value and interquartile range of the CTT test was 43.8 (31.8) hours. The average PEG 4000 dose for maintenance in the overall group was 0.68±0.18 g/kg/d; according to age, the dose was 0.73±0.16 g/kg/d (<8 years), 0.53±0.12 g/kg/d (8 to <12 years), and 0.36±0.05 g/kg/d (12 to 15 years). The dose of lactulose was 1.99±0.43 mL/kg/d (<8 years) or 1.26±0.25 mL/kg/d (8 to <12 years). There was no significant correlation between CTT test value and initial dose of laxative, irrespective of the subgroup (encopresis, abnormal CTT test subtype) for either laxative. Even in the largest group (overall, n=109, younger than 8 years and on PEG 4000), the correlation was weak (Pearson's correlation coefficient [R]=0.268, p=0.005). Within the abnormal transit group, subgroup (n=73, younger than 8 years and on PEG 4000) correlation was weak (R=0.267, p=0.022). CONCLUSION: CTT test value cannot predict the initial maintenance dose of PEG 4000 or lactulose with linear correlation.
Child* ; Colon* ; Constipation* ; Defecation ; Humans ; Lactulose ; Laxatives ; Polyethylene Glycols

BACKGROUND: Montelukast is a type 1 cysteinyl-leukotrienes receptor antagonist that has been widely used in allergic disease. However, the effect of combination of leukotriene receptor antagonist and antihistamine is controversial. The aim of this study was to compare the effect of combination treatment of montelukast and antihistamine, fexofenadine, over antihistamine alone in patients with allergic rhinitis (AR). SUBJECTS AND METHODS: Retrospective chart review of 60 patients with AR was undertaken. Patients were classified into combination group (montelukast and fexofenadine, n=28) and antihistamine only group (fexofenadine, n=32) according to treatment modalities. Questionnaire survey was performed and allergic symptoms (VAS scale, 5pointscale), and SNOT (sinonasal outcome test)-20 score were obtained before and after the treatment. RESULTS: Mean follow-up duration was 6.7+/-4.6weeks. There was no significant difference in demographic data between two groups. Allergic symptoms and SNOT-20 score(nasal, QOL domain) were improved significantly in both groups after the treatment (all p < 0.001). Combination treatment group showed better improvement in nasal obstruction than antihistamine treatment group(p = 0.03). However, there were no significant differences in other allergic symptoms (rhinorrhea and sneezing) and SNOT-20 between two groups (all p > 0.05, respectively). CONCLUSION: A combination treatment of montelukast and fexofenadine showed more efficacies in nasal obstruction than single fexofenadine treatment in patients with AR. Therefore, montelukast could be used effectively with antihistamine in patients with AR complaining nasal congestion.
Acetates ; Estrogens, Conjugated (USP) ; Follow-Up Studies ; Humans ; Nasal Obstruction ; Quinolines ; Receptors, Leukotriene ; Retrospective Studies ; Rhinitis* ; Rhinitis, Allergic, Perennial ; Terfenadine ; Surveys and Questionnaires

Nasal septal abscess is an uncommon entity and causes nasal obstruction, saddle nose deformity and septal perforation. It is defined as a collection of pus between the cartilage or bony septum and its normally applied mucoperichondrium or mucoperiostium. Previously reported cases are confined in the nasal septal space and case of nasal septal abscess extending to nasal dorsum has not yet been reported in the literature. We recently experienced an extremely rare case of nasal septal abscess which extended to the nasal dorsum and caused abscess on the nasal dorsum. Therefore, we present this case with a brief review of literature.
Abscess* ; Cartilage ; Congenital Abnormalities ; Nasal Obstruction ; Nasal Septum ; Nose ; Suppuration

Bisphosphonates are used effectively for many medical conditions, such as multiple myeloma, Paget's disease, osteoporosis, etc. However, recent case series and retrospective studies have established a relationship between necrotic bone lesions localized to the jaw and the use of chronic bisphosphonate therapy. This condition has been named bisphosphonate related osteonecrosis of the jaw (BRONJ). Although some cases with BRONJ affect the paranasal sinus, they have been rarely reported in otorhinolaryngology. Hence, we report a case of BRONJ with sinus involvement and a review of the relevant literature.
Bisphosphonate-Associated Osteonecrosis of the Jaw ; Diphosphonates ; Jaw ; Multiple Myeloma ; Osteonecrosis ; Osteoporosis ; Otolaryngology ; Retrospective Studies ; Sinusitis

BACKGROUND AND OBJECTIVES: Many studies have revealed a close relationship between allergic rhinitis (AR) and asthma. This study was designed to evaluate clinical parameters affecting bronchial hyperresponsiveness (BHR) in patients with rhinitis symptoms. SUBJECTS AND METHOD: One hundred thirty-seven patients who visited the outpatient clinic due to rhinitis symptoms were evaluated retrospectively. All patients undertook an allergic skin test, the methacholine bronchial provocation test and were tested for clinical parameters such as allergic symptoms, IgE levels, and sinonasal outcome test-20 were evaluated. RESULTS: Patients with AR had a higher proportion of BHR than the non-allergic group (28.0% vs. 4.5%, p=0.001) did, and children had higher prevalence of BHR than adults (p<0.005) did. There was no significant difference according to the type of allergen. Sinusitis or nasal polyp did not influence BHR and there were no significant differences according to the Allergic Rhinitis and Its Impact on Asthma classification. The mean serum eosinophil count was significantly higher in BHR group. CONCLUSION: Patients with AR had more BHR, and age and serum eosinophil counts were related to BHR. Hence, the additional evaluation of lower airway might be required in high risk patients of BHR, such as pediatric AR patients and patients with elevated eosinophil counts.
Adult ; Ambulatory Care Facilities ; Asthma ; Bronchial Provocation Tests ; Child ; Classification ; Eosinophils ; Humans ; Immunoglobulin E ; Methacholine Chloride ; Nasal Polyps ; Prevalence ; Retrospective Studies ; Rhinitis* ; Sinusitis ; Skin Tests

It is thought that horizontal canal benign paroxysmal positional vertigo (BPPV) is the most common cause of apogeotropic direction-changing positional nystagmus (DCPN). But there are many reports about cerebellar or brainstem lesions as the cause of apogeotropic DCPN. We also report a 72-year-old male patient who showed apogeotropic DCPN, but was proven to have a pontine infarction. The patients complained of disequilibrium which has lasted for 3-4 years and aggravated recently. The symptom was present only when he stood up, and was absent as soon as he sat down. He was not able to successfully perform the Romberg test and tandem gait on physical examination. Vestibular function test revealed apogeotropic DCPN without spontaneous nystagmus. Rotation chair test and caloric test results were all within normal limit. On the brain magnetic resonance imaging, newly detected infarction in the left basal ganglia, pons and right parietal lobe was found. Although horizontal canal BPPV is the most common cause of apogeotropic DCPN, we should be aware that there can be patients with central origin DCPN. In this report, we present the detailed history of this patient and tried to point out the clues to suspect central lesion in patients with apogeotropic DCPN.
Aged ; Basal Ganglia ; Brain ; Brain Stem ; Caloric Tests ; Gait ; Humans ; Infarction ; Magnetic Resonance Imaging ; Male ; Nystagmus, Physiologic ; Parietal Lobe ; Physical Examination ; Pons ; Vertigo ; Vestibular Function Tests

BACKGROUND AND OBJECTIVES: Meniere's disease (MD) is a clinical cluster of common symptoms by various causes rather than a single disease entity. Many causes such as autoimmune, allergy, vascular insufficiency have been thought to be related with Meniere's disease. We assumed that different pathologic mechanisms have contribution in each gender. With this premise, we compared clinical characteristics between male and female patients to determine if there is any difference indicating heterogeneous underlying pathology. MATERIALS AND METHODS: We reviewed medical records of 61 patients (43 female, 18 male) who were diagnosed as unilateral definite MD and underwent vestibular function test and audiologic evaluation (more than two times of pure tone audiometry during the follow-up period) from October 2005 to December 2011. RESULTS: The average duration of dizziness in females was longer than in males. In the worst ipsilateral pure tone audiometry, low frequency thresholds were lower in females than in males. Female had lesser hearing difference at all frequencies between the sides and showed more hearing fluctuation than male. There was no significant difference between male and female in the vestibular function test. CONCLUSION: These results are insufficient to suggest that the pathogenesis of MD differs between the genders. However, some differences between the genders prompt a need for future studies involving more patients.
Audiometry ; Dizziness ; Female ; Follow-Up Studies ; Hearing ; Humans ; Hypersensitivity ; Male ; Medical Records ; Meniere Disease ; Vestibular Function Tests