Chromosome 18p deletion syndrome is one of the most frequent autosomal abnormalities with more than 150 reported cases in the world and 7 reported cases in South Korea. Frequent clinical features of 18p deletion syndrome include intellectual disability, growth retardation, and dysmorphic features including ptosis. To the best of our knowledge, sensorineural hearing loss has not been reported in the 18p deletion syndrome until now. A case with sensorineural hearing impairment associated with hypoplasia of bilateral cochlear nerves is presented in this paper. The sensorineural hearing impairment seen in this case could be related with deleted gene(s) located in the short arm of chromosome 18 or be an independent feature unrelated with 18p deletion. Further case reports are required in order to better define the relation between sensorineural hearing loss and the 18p deletion syndrome.
Arm ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 18 ; Cochlear Nerve ; Hearing Loss ; Hearing Loss, Sensorineural ; Intellectual Disability ; Republic of Korea

Acute aluminum intoxication is uncommon in clinical practice but can be fatal. Most cases have been reported in patients with decreased renal function, especially dialysis patients. We describe a case of acute aluminum encephalopathy with intraperitoneal bladder rupture following aluminum bladder irrigation in a patient with normal renal function. A 51-year-old woman with a radical hysterectomy and external irradiation therapy for cervical cancer 15 years earlier was admitted due to gross hematuria. An aluminum intravesical irrigation was performed. After 1 day of intravesical irrigation, abdominal pain and fever developed. Abdominal CT images demonstrated bladder perforation and peritonitis. An emergency laparotomy was performed. Operative findings showed a perforated dome of the bladder with gray colored peritoneal fluids. Two days after the operation, she complained of numbness and pain in the left side of her face. Acute aluminum encephalopathy was diagnosed after excluding infectious, rheumatological, and other vascular causes. She was treated with combined intravenous deferoxamine and hemodialysis.
Abdominal Pain ; Aluminum ; Ascitic Fluid ; Deferoxamine ; Dialysis ; Emergencies ; Female ; Fever ; Hematuria ; Humans ; Hypesthesia ; Hysterectomy ; Laparotomy ; Middle Aged ; Peritonitis ; Renal Dialysis ; Rupture ; Urinary Bladder ; Uterine Cervical Neoplasms

PURPOSE: To determine the utility of HRCT in the diagnosis of chronic airflow obstruction and to correlate the morphologic abnormalities revealed by this modality with functional impairment in patients with chronic air-flow obstruction. MATERIALS AND METHODS:This study involved 80 patients with chronic airflow obstruction who underwent HRCT and a pulmonary function test. Final clinical diagnosis in these patients was determined by a chest physician on the basis of clinical features, bronchoscopy, pulmonary function test, and HRCT. In order to diagnose and determine the extent of areas of decreased attenuation revealed by HRCT (the CT score), the find-ings of HRCT were retrospectively reviewed by two radiologists, who reached a consensus. Clinical and HRCT diagnoses were then compared, and the rate of agreement between them was calculated. The relation-ship between the extent of areas of decreased attenuation revealed by HRCT and by FEV1/FVC was evaluated using Correl 's account and Student 's unpaired t-test. RESULTS: The agreement rate between clinical and HRCT diagnoses was 77.5% (62/80). The rates for bronchiec-tasis (88.9%, 24/27), emphysema (93.9%, 31/33), and bronchiolitis obliterans (100%, 6/6) were considerably higher than those for chronic bronchitis and bronchial asthma. The correlation rate between CT score and FEV1/FVC was significant in bronchiectasis (p<0.05; r: -0.76) and bronchiolitis obliterans (p<0.01; r:-0.66), but not in cases involving emphysema, bronchial asthma, or chronic bronchitis (p>0.05). CONCLUSION: HRCT is valuable in the diagnosis and prediction of physiologic impairment in patients with bronchiectasis and bronchiolitis obliterans, but has limited value in those with emphysema, chronic bronchitis or asthma.
Asthma ; Bronchiectasis ; Bronchiolitis Obliterans ; Bronchitis, Chronic ; Bronchoscopy ; Consensus ; Diagnosis* ; Emphysema ; Humans ; Pulmonary Disease, Chronic Obstructive* ; Pulmonary Emphysema ; Respiratory Function Tests* ; Retrospective Studies ; Thorax

Meckel-Gruber syndrome is a multiple malformation syndrome featuring occipital meningoencephalocele, multicystic dysplasia of kidney, cystic and fibrotic change of liver, polydactyly, and other characteristics inherited by the autosomal recessive trait. We exprienced a case of Meckel-Gruber syndrome in a newborn male diagnosed clinically and confirmed pathologically. Abnormalities of the fetus were found prenataly by ultrasonogram, and subsequently the baby was terminated by cesarean section delivery at 32 weeks of gestational age. We report this case with brief review of literature.
Cesarean Section ; Female ; Fetus ; Gestational Age ; Humans ; Infant, Newborn ; Kidney Diseases, Cystic ; Liver ; Male ; Polydactyly ; Pregnancy ; Ultrasonography

BACKGROUND: The family medicine residency program consists mainly of clinical rotations in other specialties and the family medicine-specific training. We conducted this study to investigate how family medicine residents evaluated their training program that include family-oriented medicine, clinical preventive medicine, behavioral science and research in primary care. METHODS: In 2009, third-year residents of 129 training hospitals in Korea were surveyed to investigate the current state and their expectation of the residency program. The contents of questionnaires included training periods, conferences, procedures, interview techniques, outpatient and inpatient consultations, and written thesis. RESULTS: Total 133 out of 142 residents (93.7%) responded that 3 years of training is ideal or pertinent. Residents responded that the types of conference that they need most are journal review (81%), staff lecture (73.2%), and clinical topic review (73.2%), in that order. Procedures and interview techniques that the residents want to learn most were gastroscopy (72.5%), abdominal ultrasonography (65.2%), and pain management (46.4%). Hospitals where family medicine residents do not see hospitalized patients or patients in the outpatient clinic were 7.9% and 6.5%, respectively, whereas hospitals that maintain continuous family medicine outpatient clinics were only 40.8%. Education in outpatient clinic and articlewriting seminars was done less frequently in the secondary hospitals than in the tertiary hospitals. CONCLUSION: Evaluation and quality improvement of family medicine training program as well as specialty rotations should be considered in order to foster better family physicians. The efforts have to be made to minimize the difference in quality of each family medicine residency program.
Ambulatory Care Facilities ; Behavioral Sciences ; Clinical Medicine ; Congresses as Topic ; Family Practice ; Gastroscopy ; Humans ; Inpatients ; Internship and Residency ; Korea ; Outpatients ; Pain Management ; Physicians, Family ; Preventive Medicine ; Quality Improvement ; Referral and Consultation

BACKGROUND: Hemoglobin A1c (HbA1c) was adopted as a new standard criterion for diagnosing diabetes. We investigated the diagnostic utility of HbA1c by comparing the 2003 American Diabetes Association (ADA) diagnostic criteria of diabetes with HbA1c of 6.5%. Furthermore, the cut-off value for HbA1c was investigated using receiver operating characteristic curves. METHODS: This study included 224 subjects without a history of diabetes that had a fasting plasma glucose level of above 100 mg/dL. The subjects had undergone a 75 g oral glucose tolerance test, and diabetes was defined as according to 2003 ADA criteria. RESULTS: The prevalence of newly diagnosed diabetes was 58.2% by the 2003 ADA criteria, and 47.8% by HbA1c of 6.5%, which underestimated the prevalence of diabetes. Compared with the 2003 ADA criteria, the sensitivity and specificity of HbA1c of 6.5% were 73.5% and 89.1%, respectively. The kappa index of agreement between 2003 ADA and HbA1c criteria was 0.60. The cut-off point of HbA1c for diagnosing diabetes was 6.45% (sensitivity, 73.3%; specificity, 88.2%; area under the curve, 0.85). HbA1c was significantly associated with fasting glucose (r = 0.82, P < 0.01), postprandial glucose (r = 0.78, P < 0.01), and homeostasis model assessment of insulin resistance (r = 0.16, P < 0.05). CONCLUSION: For high risk patients whose fasting glucose was more than 100 mg/dL, HbA1c criterion underestimated the prevalence of newly diagnosed diabetes compared to the 2003 ADA criteria, and showed moderate agreement. The cut-off value for HbA1c was 6.45%, which was similar to the recommended diagnostic criterion of HbA1c by the 2009 ADA.
Fasting ; Glucose ; Glucose Tolerance Test ; Hemoglobin A, Glycosylated ; Hemoglobins ; Homeostasis ; Humans ; Insulin Resistance ; Plasma ; Prevalence ; ROC Curve ; Sensitivity and Specificity

Ultraviolet (UV) irradiation is an environmental factor that causes skin aging, and is also a major factor leading to cumulative alterations of skin structure, function and appearance. To investigate the effects of Selenium (Sel) on UV-induced skin aging, hairless mice were treated for 4 weeks with UV irradiation and topical application of Sel. Then, the effects of Sel were measured in the skin of these mice via histological analysis and Western blotting. According to the results of wrinkle formation analysis, the topical application of Sel induced a reduction in wrinkling formation in the damaged skin of the UV-irradiated mice. Additionally, our histological analysis demonstrated that the skin thickness in the Sel-treated group was less than in the UV-irradiated group. Furthermore, in an effort to investigate the mechanisms underlying the effects of Sel, the expression levels of matrix-metalloproteinase (MMP) and MAPK protein were assessed in both groups. The application of Sel induced a reduction in MMP-1 expression levels to the levels observed in the non-irradiated group. However, the expression level of MMP-9 was increased slightly in the Sel application group as compared with the vehicle application group. Additionally, the levels of ERK phosphorylation were increased by the application of Sel, but the levels of JNK and p38 were not altered by Sel treatment. These results suggest the possibility that Sel should be considered as a skin aging-protective and therapeutic drug candidate, which functions via the regulation of MMP expression levels.
Animals ; Blotting, Western ; Mice ; Mice, Hairless ; Phosphorylation ; Selenium ; Skin ; Skin Aging

Atopic dermatitis is an well-known skin disease showing inflammatory, chronically relapsing, non-contagious and pruritic symptoms. The aims of this study were to investigate the effects of Liriope platyphylla (LP) on atopic dermatitis of NC/Nga mice. To achieve this, NC/Nga mice were treated with four different conditions including vehicle, phthalic anhydride (PA), PA+5% LP and PA+10% LP, and the changes of immune-related factors were detected after 2 weeks. The pathological phenotypes of atopic dermatitis such as erythema, ear thickness, edema, scab and discharge were significantly decreased in PA+10% LP cotreated groups compare to PA treated group. Also, the weight of lymph node and thymus in immune organs were gradually decreased in LP treated groups, while the weight of spleen was slightly increased in same group. Furthermore, toluidine blue staining analysis, a method used to specifically identify the mast cell, showed that the decrease of master cell infiltration into the dermis were statistically observed in PA+5% LP and PA+10% LP5% cotreated groups. Especially, the decrease of IgE concentration was detected only PA+10% LP cotreated group, although this level was maintained in PA+5% LP cotreated group. Therefore, these results suggested that the water extracts of LP may contribute the relieve of atopic dermatitis symptoms and be considered as an excellent candidate for a atopic dermatitis-therapeutic drug.
Animals ; Dermatitis, Atopic ; Dermis ; Ear ; Edema ; Erythema ; Immunoglobulin E ; Lymph Nodes ; Mast Cells ; Mice ; Phenotype ; Phthalic Anhydrides ; Skin Diseases ; Spleen ; Thymus Gland ; Tolonium Chloride ; Water

Objective: This study aimed to investigate the blood-brain barrier (BBB) disruption in mild traumatic brain injury (mTBI) patients with post-concussion syndrome (PCS) using dynamic contrast-enhanced (DCE) magnetic resonance (MR) imaging and automatic whole brain segmentation. Materials and Methods: Forty-two consecutive mTBI patients with PCS who had undergone post-traumatic MR imaging, including DCE MR imaging, between October 2016 and April 2018, and 29 controls with DCE MR imaging were included in this retrospective study. After performing three-dimensional T1-based brain segmentation with FreeSurfer software (Laboratory for Computational Neuroimaging), the mean Ktrans and vp from DCE MR imaging (derived using the Patlak model and extended Tofts and Kermode model) were analyzed in the bilateral cerebral/cerebellar cortex, bilateral cerebral/cerebellar white matter (WM), and brainstem. Ktrans values of the mTBI patients and controls were calculated using both models to identify the model that better reflected the increased permeability owing to mTBI (tendency toward higher Ktrans values in mTBI patients than in controls). The Mann-Whitney U test and Spearman rank correlation test were performed to compare the mean Ktrans and vp between the two groups and correlate Ktrans and vp with neuropsychological tests for mTBI patients. Results: Increased permeability owing to mTBI was observed in the Patlak model but not in the extended Tofts and Kermode model. In the Patlak model, the mean Ktrans in the bilateral cerebral cortex was significantly higher in mTBI patients than in controls (p = 0.042). The mean vp values in the bilateral cerebellar WM and brainstem were significantly lower in mTBI patients than in controls (p = 0.009 and p = 0.011, respectively). The mean Ktrans of the bilateral cerebral cortex was significantly higher in patients with atypical performance in the auditory continuous performance test (commission errors) than in average or good performers (p = 0.041). Conclusion BBB disruption, as reflected by the increased Ktrans and decreased vp values from the Patlak model, was observed throughout the bilateral cerebral cortex, bilateral cerebellar WM, and brainstem in mTBI patients with PCS.