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

There are many problems in the anesthetic management of patients with scar contracture. In this case, a 41-year-old male with severe scar contracture on his face, neck, anterior chest, and both shoulders underwent surgery for resurfacing with flaps. We tried to awake fiberoptic orotracheal intubation with GlideScope(R) Video laryngoscope guide after surgical release of contracture under local anesthesia. We report a successful management of a patient with severe burn contracture achieved by combined effort of surgeons and anesthesiologists.
Anesthesia, Local ; Burns ; Cicatrix ; Contracture ; Humans ; Intubation ; Laryngoscopes ; Male ; Neck ; Shoulder ; Thorax

Not only is the concurrence of congenital myotonic dystrophy (CDM) and subgaleal hematoma (SGH) hardly ever seen but also the development of SGH during unassisted vaginal delivery is rare. We report a boy who developed huge SGH in vaginal delivery without any use of vacuum or forceps and later was diagnosed as maternally transmitted CDM. The boy had prenatal history of polyhydramnios and decreased fetal movement. Six hours after birth, severe molding of the skull associated with huge SGH on left parieto-occipital area was recognized by CT scan. At corrected age of two months, he was diagnosed as maternally transmitted CDM. This is the first report of CDM complicated by SGH occurring in non-instrumental vaginal delivery.
Fetal Movement ; Fungi ; Hematoma ; Myotonic Dystrophy ; Parturition ; Polyhydramnios ; Skull ; Surgical Instruments ; Vacuum

An 8-year-old girl diagnosed with dilated cardiomyopathy and Russell-Silver syndrome was admitted to our pediatric intensive care unit due to low cardiac output and multiple-organ dysfunction. The patient was placed on the heart transplant waiting list and extracorporeal membrane oxygenation was performed as a bridge to transplantation. After 17 days, heart transplantation was performed. The donor was a 46-year-old female (weight, 50 kg; height, 150 cm). The donor:recipient weight ratio was 3.37:1. Because the dimension and volume of the recipient's thoracic cage were insufficient, the sternum could not be closed. Nine days after transplantation, the patient underwent delayed sternal closure. To obtain adequate space, we left the sternum 4.5 cm apart from each margin using four transverse titanium plates. A transverse rectus abdominis musculocutaneous flap was chosen to cover the wound. Due to the shortage of donors, a size-mismatched pediatric heart transplantation is sometimes unavoidable. Closure of the opened sternum of a transplant recipient can be challenging. Sternal reconstruction after an extremely oversized heart transplantation with transverse titanium plate fixation and a musculocutaneous flap can effectively achieve sternal closure and stability.
Cardiac Output, Low ; Cardiomyopathy, Dilated ; Child ; Extracorporeal Membrane Oxygenation ; Female ; Heart ; Heart Transplantation* ; Humans ; Intensive Care Units ; Middle Aged ; Myocutaneous Flap* ; Rectus Abdominis* ; Silver-Russell Syndrome ; Sternum ; Thoracic Wall* ; Tissue Donors ; Titanium ; Transplantation ; Waiting Lists ; Wounds and Injuries

Intestinal lymphangiectasia, one of the protein-losing gastroenteropathies, is an uncommon disease characterized by dilated intestinal lymphatics, enteric protein loss, edema, hypoalbuminemia, and lympocytopenia. Small bowel biopsy and CT have been used to confirm the diagnosis of intestinal lymphangiectasia. Small bowel biopsy shows collections of abnormal dilated lacteals in submucosa with distortion of villi and CT findings have been described as diffuse nodular thickening of the small bowel and as linear hypodense streaking densities in the small bowel caused by dilated lymphatic channels. Demonstration of increased enteric protein loss using 51Cr-, 131I- or 99mTc-labeled albumin, timed measurement of fecal excretion of radioactivity or by measuring fecal clearance of alpha 1-antitrypsin can also help the diagnosis. We experienced a rare case of intestinal lymphangiectasia in an eight year old boy who presented with facial edema, abdominal distension and intermittent diarrhea. We report a patient with intestinal lymphangiectasia, in whom abdominal CT, 99mTc-labeled albumin scintitigraphy, and stool alpha 1-antitrypsin measurement played key roles in determining the diagnosis. A brief review of literature was made.
alpha 1-Antitrypsin ; Biopsy ; Diagnosis ; Diarrhea ; Edema ; Humans ; Hypoalbuminemia ; Male ; Radioactivity ; Tomography, X-Ray Computed

A survey was conducted to determine the perception of youku meat among college students majoring in food and/or nutrition. The survey participants were located nationwide, and the responses from the 2,454 students were analyzed. More male and higher grade students answered that they had heard about youku while only 20.0% had learned about Youku from class. Approximately 37.8% of the subjects recognized youku as 'dairy cattle which are too old to produce milk', 54.0% as 'all cattle grown for the purpose of meat', and 23.1% as 'all cattle except for Hanwoo'. Only 37.4% recognized youku correctly. Compared with the same quality grade, 25.3% recognized youku meat as being cheaper than imported beef, and only 25.6% of them recognized that youku meat has less fat than imported beef. As much as 83.3% of subjects did not know whether or not they were served youku meat, and 23.7% of subjects wanted increased availability of youku meat. As much as 22.9% of subjects opposed the increased use of youku meat, and the reasons were "it does not taste good" (18.1%), "it is not Hanwoo" (15.1%), "it is not sanitary" (13.1%), and "it is imported" (6.0%). The findings provide basic information on barriers regarding youku meat promotion among subjects who will be dieticians in food service or managers in purchase departments of catering companies in the future.
Animals ; Cattle ; Food Services ; Humans ; Male ; Meat* ; Nutritionists

PURPOSE: Nitric oxide(NO) is a very potent vasodilator synthesized from L-arginine by endothelial cells. We investigated whether urinary NO excretion was altered in various renal diseases in children and whether urinary NO excretion could be used in predicting pathologic causes and fibrosis in renal diseases in children. METHODS: We recruited 48 patients(32 minimal change nephrotic syndrome[MCNS] and 16 vesicoureteral reflux[VUR] patients) from the pediatric renal clinic in Korea University Guro Hospital. We measured the concentration of nitrite(NO2) and nitrate(NO3) by Griess reaction and that of creatinine(Cr) by Jaffe method in randomized spot urines. We then analyzed the urinary(NO2+NO3)/Cr ratios and compared the values between each patient group. Urinary (NO2+NO3)/Cr ratios were also evaluated according to the recurrence and the degree of proteinuria at sampling in the MCNS group and compared according to the presence of renal scarring and the grade of reflux in the VUR group. RESULTS: The ratios of urinary(NO2+NO3)/Cr were significantly increased in the VUR and MCNS groups, as compared to the control group. In the MCNS group, a higher level of urine (NO2+NO3)/Cr was observed in frequent relapse patients(relapse over four times within one year after first diagnosis) and the patients with severe proteinuria at sampling, respectively. The VUR group with renal scars also showed a higher level of urinary(NO2+NO3)/Cr compared to that without scars. CONCLUSIONS: In summary, NO may play a role in the pathogenesis of VUR and MCNS. NO also seems to affect proteinuria and renal scar formation.
Arginine ; Child ; Cicatrix ; Endothelial Cells ; Fibrosis ; Humans ; Korea ; Nitric Oxide* ; Proteinuria ; Recurrence

BACKGROUND AND PURPOSE: Manganese could be toxic to the human nervous system. Therefore, it is important to detect the over-exposed patients in their early course of intoxication. The aim of this study is to find a valuable methods of clinical examination and applicable parameters for early detection of manganese intoxication. METHODS: we investigated the 35 men who had been exposed to manganese over 5 years. All the subjects were examined and video monitored by three physicians. We separated them into the two groups(Group A: clinically suspicious, Group B: clinically normal) in terms of their motor functions, gait, posture, expression. Motor functions(finger and foot tapping, rapid alternating movement, pegboard exam, writing and walking velocity etc.), MRIs, and biochemical data were measured and compared. RESULTS: No one showed significant effects of manganese intoxication . Also there were no significant differences between the two groups for their biochemical data except for elevated serum Adenosine deaminase(ADA) in clinically suspicious group. But there was a trend that motor functions were decreased especially for the finger and foot tapping, walking velocity and stride, writing velocity. A large number of subjects showed MRI changes in both groups. So MRI is not necessarily correlated with clinical findings and not a specific diagnostic tool for manganese intoxication but a sensitive one for the exposed subjects to manganese. CONCLUSION: From this study, the decreased motor functions were the only clinically significant neurologic manifestation in those who over-exposed subjects to manganese. The level of serum ADA and brain MRI could be a helpful supportive diagnostic tools for the over-exposure. Even if the subjects with these positive results do not show any significant sign of intoxication , we ought to modify their working environment to reduce further exposure.
Adenosine ; Brain ; Fingers ; Foot ; Gait ; Humans ; Magnetic Resonance Imaging ; Male ; Manganese* ; Nervous System ; Neurologic Manifestations ; Posture ; Walking ; Writing

Purpose: This study aimed to examine the inter-method reliability and volumetric differences between NeuroQuant (NQ) and Freesurfer (FS) using T1 volume imaging sequence with different slice thicknesses in patients with mild cognitive impairment (MCI). Materials and Methods: This retrospective study enrolled 80 patients diagnosed with MCI at our memory clinic. NQ and FS were used for volumetric analysis of three-dimensional T1-weighted images with slice thickness of 1 and 1.2 mm. Inter-method reliability was measured with Pearson correlation coefficient (r), intraclass correlation coefficient (ICC), and effect size (ES). Results: Overall, NQ volumes were larger than FS volumes in several locations: whole brain (0.78%), cortical gray matter (5.34%), and white matter (2.68%). Volume measures by NQ and FS showed good-to-excellent ICCs with both 1 and 1.2 mm slice thickness (ICC=0.75–0.97, ES=-1.0–0.73 vs. ICC=0.78–0.96, ES=-0.9–0.77, respectively), except for putamen, pallidum, thalamus, and total intracranial volumes. The ICCs in all locations, except the putamen and cerebellum, were slightly higher with a slice thickness of 1 mm compared to those of 1.2 mm. Conclusion Inter-method reliability between NQ and FS was good-to-excellent in most regions with improvement with a 1-mm slice thickness. This finding indicates that the potential effects of slice thickness should be considered when performing volumetric measurements for cognitive impairment.

BACKGROUND/AIMS: The nonspecific clinical presentation of acute hepatitis A (AHA) mandates the detection of anti-hepatitis A virus IgM antibodies (IgM anti-HAV) in the serum for obtaining a definitive diagnosis. However, IgM anti-HAV might not be present during the early phase of the disease. The aim of this study was to determine the optimal time for repeating the IgM anti-HAV test (HAV test) in AHA patients with a negative initial test. METHODS: In total, 261 patients hospitalized with AHA were enrolled for this retrospective study. AHA was diagnosed when the test for IgM anti-HAV was positive and the serum alanine aminotransferase (ALT) level was > or =400 IU/L. Repeat HAV test was conducted after 1-2 weeks if the initial HAV test was negative but AHA was still clinically suspected. RESULTS: The results of the initial HAV test were negative in 28 (10.7%) patients. The intervals from symptom onset to the initial-HAV-test day and from the peak-ALT day to the initial-HAV-test day were significantly shorter in the negative-initial-HAV-test group, but on multivariate analysis only the latter was significantly associated with negative results for the initial HAV test (beta=-0.978; odds ratio [95% confidence interval]=0.376 [0.189-0.747]; P=0.005). The HAV test was positive in all patients when it was performed at least 2 days after the peak-ALT day. CONCLUSIONS: The results of HAV tests were significantly associated with the interval from the peak-ALT day to the HAV-test day. The optimal time for repeating the HAV test in clinically suspicious AHA patients with a negative initial HAV test appears to be at least 2 days after the peak-ALT day.
Acute Disease ; Adult ; Alanine Transaminase/blood ; Female ; Hepatitis A/*diagnosis ; Hepatitis A Antibodies/*blood ; Hepatitis A virus/*immunology ; Humans ; Immunoglobulin M/*blood ; Male ; Odds Ratio ; Retrospective Studies ; Time Factors