Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel / 대한소화기학회지

Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes. NPC has a broad spectrum of clinical manifestations, depending on the age of onset. A 15-day-old infant presented at the Seoul National University Children's Hospital with neonatal cholestasis and hepatosplenomegaly, with the onset of jaundice at 5 days of age. Despite supportive treatment, the patient was considered for a liver transplant because of progressive liver failure. Unfortunately, the patient died from gastrointestinal bleeding before undergoing the transplant. The neonatal cholestasis gene panel revealed two novel likely pathogenic variants in the NPC1 gene (c.1145C>G [p.Ser382*] and c.2231_2233del [p.Val744del]). The patient was diagnosed with NPC, and both parents were found to be carriers of each variant. In infants presenting with neonatal cholestasis, a gene panel can help diagnose NPC.

Needs of caregivers for national oral health screening for infants and children / 대한구강보건학회지

Objectives@#This study aimed to evaluate the perception and needs of the caregivers of infants and children regarding oral health screening in order to identify the problems and the improvements required to increase their satisfaction with the oral health screening system. @*Methods@#An online self-reported survey for the national oral health screening system was conducted for 200 parents raising infants and children in Seoul and the metropolitan area of Korea. The questionnaire for caregivers recorded their thoughts on the current problems, the improvements required in oral health screening, the necessity of screening, and the need for oral h ealth education. @*Results@#The caregivers proposed many requests for precise examination and detailed explanation in the infants and children’s oral health screening and inclusion of simple preventive treatment measures during the screening. Although most parents (94.9%) recognized the necessity of oral checkups for their children, only 76.1% went ahead with the screening. The main reason for screening was prevention and early detection of dental caries. Regarding the need for education, the proportion of respondents receiving oral health education (43.1%) was lower than that of oral health screening (76.1%), even if oral health education and counseling were provided during the screening. The caregivers wanted to learn about the correct tooth brushing methods, causes and prevention of tooth decay, fluoride application, and preferred education methods such as hands-on training, education by dental experts, or visualization. @*Conclusions@#Understanding the perception and needs of caregivers regarding the infants and children’s oral health screening would contribute to improvements in the oral health screening system, thereby increasing their satisfaction.

Reversible Motor Neuropathy Following Disulfiram Therapy

No abstract available.

Asymptomatic HyperCKemia Presenting as a Sole Manifestation of Hypothyroidism / 대한임상신경생리학회지

No abstract available.

The Association Between Hypertension and Cerebral Microbleeds in Patients With CADASIL

BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited microangiopathy that is caused by mutations in the Notch3 gene. Typical findings from magnetic resonance imaging (MRI) include multiple subcortical lacunae, extensive white-matter change, and multiple cerebral microbleeds (CMBs). CMBs are indicative of bleeding-prone microangiopathy. The rate of intracerebral hemorrhage in CADASIL is higher in Asian patients than in Caucasian patients. However, CMBs have not been thoroughly evaluated in Asian patients. We performed a detailed analysis of the frequency and distribution pattern of CMBs and assessed whether vascular risk factors exert an independent effect on CMBs in Asian CADASIL patients. METHODS: The study population comprised 60 patients who underwent brain MRI, including T2*-weighted gradient-echo sequences. Demographic factors, vascular risk factors, and MRI findings were compared between CADASIL patients with and without CMBs. The impact of vascular risk factors on CMBs, lacunae, and white-matter hyperintensities (WMHs) was assessed by logistic regression analysis. RESULTS: CMBs, which were detected in 34 (56.7%) patients, exhibited a significant predilection for the thalamus (46.7%), subcortical-cortical region (35.0%), and basal ganglia (31.7%). Hypertension, lacunae, and white-matter lesions were more common in patients with CMBs. Hypertension was an independent risk factor for CMBs, lacunae, and WMHs in patients with CADASIL. CONCLUSIONS: This study found that CMBs tended to occur in hypertensive patients with CADASIL. Further studies should focus on elucidating the association between reduced blood pressure and the number of CMBs.

Bilateral Paramedian Thalamic Infarction due to Occlusion of Artery of Percheron

The thalamic vascular supply is categorized into the anterior, paramedian, inferolateral, and posterior territories. The artery of Percheron (AOP), a solitary trunk that is an uncommon anatomic variant, provides bilateral arterial supply to the paramedian thalami and the rostral midbrain. Occlusion of this artery results in bilateral thalamic and mesencephalic infarctions. The case described herein is of a patient with AOP who presented with the sudden onset of lethargy.

Bilateral Paramedian Thalamic Infarction due to Occlusion of Artery of Percheron

The thalamic vascular supply is categorized into the anterior, paramedian, inferolateral, and posterior territories. The artery of Percheron (AOP), a solitary trunk that is an uncommon anatomic variant, provides bilateral arterial supply to the paramedian thalami and the rostral midbrain. Occlusion of this artery results in bilateral thalamic and mesencephalic infarctions. The case described herein is of a patient with AOP who presented with the sudden onset of lethargy.

Beta ig-h3 promotes renal proximal tubular epithelial cell adhesion, migration and proliferation through the interaction with alpha3beta1 integrin

Betaig-h3 (betaig-h3) is a secretory protein composed of fasciclin I-like repeats containing sequences that allows binding of integrins and glycosaminoglycans in vivo. Expression of betaig-h3 is responsive to TGF-beta and the protein is found to be associated with extracellular matrix (ECM) molecules, implicating betaig-h3 as an ECM adhesive protein of developmental processes. We previously observed predominant expression of betaig-h3 expression in the basement membrane of proximal tubules of kidney. In this study, the physiological relevance of such localized expression of betaig-h3 was examined in the renal proximal tubular epithelial cells (RPTEC). RPTEC constitutively expressed betaig-h3 and the expression was dramatically induced by exogenous TGF-beta1 treatment. betaig-h3 and its second and fourth FAS1 domain were able to mediate RPTEC adhesion, spreading and migration. Two known alpha3beta1 integrin-interaction motifs including aspartatic acid and isoleucine residues, NKDIL and EPDIM in betaig-h3 were responsible to mediate RPTEC adhesion, spreading, and migration. By using specific antibodies against integrins, we confirmed that alpha3beta1 integrin mediates the adhesion and migration of RPTECs on betaig-h3. In addition, it also enhanced proliferation of RPTECs through NKDIL and EPDIM. These results indicate that betaig-h3 mediates adhesion, spreading, migration and proliferation of RPTECs through the interaction with alpha3beta1 integrin and is intimately involved in the maintenance and the regeneration of renal proximal tubular epithelium.

Development of a CD-ROM Titled 'Atlas of Pathology' for Medical Students

The authors have made a CD-ROM titled 'Atlas of Pathology (AP)' for medical students to understand histopathologic findings with ease. We used a 35 mm film scanner to convert an existing file into digital images. A pathologist and two professional programmers collaborated to create the program 'AtlasMaster 1.0' based on (IBM) PC for organization of previously captured digital images. Minimum system requirement for the 'AP' was Pentium II 166 MHz, 32 MB RAM, Windows 95 or 98, 800 600 resolution, 16-bit color, 20 speed CD-ROM drive. The 'AP' was composed of a execution file (Pathology_Atlas.exe), a DB file (pathology.mdb), and reference files (*.bmp, *.jpg, *.txt). The DB file contained fields for chapter, section, disease entity, and information for location of reference files. About 1,000 color images for various kinds of gross and microscopic pictures were stored in the CD-ROM and those were classified according to the chapters, sections, and disease entities. The 'AP' was easy to manipulate, and had advantages of self-learning for students. It could be applied to other fields in which many images were dealt with, such as histology, radiology, endoscopy, dermatology, and plastic surgery. The 'AP' was handy and very useful for medical students to study pathology and it would be a powerful self-learning tool.

A Case of Iliac Artery Aneurysm Masquerading as Pelvic Sarcoma / 대한비뇨기과학회지

Iliac artery aneurysm is rare disease. We report a 60-year-old man who was referred to our hospital because of right hydronephrosis and pelvic mass. A intravenous pyelogram, a computerized tomography scan and a magnetic resonance imaging revealed a pelvic sarcoma. We experienced a case of right internal iliac artery aneurysm masquerading as pelvic sarcoma.

The comparison among Mechanical, Electromyographic and Accelerographic responses during recovery from vecuronium induced neuromuscular blockade / 대한마취과학회지

As the use of muscle relaxants routinize in the clinical general anesthesia, the proper estimation of neuromuscular blockade and recovery is needed for the more safe anesthetic management. Three recording methods of measurement in recovery are available; measurement of the evoked mechanical responses (mechanography), measurement of the evoked electrical responses (electromyography), and measurement of the acceleration of the muscle responses, The purpose of this study was to evaluate the correlations among mechanomyographic, electromyographic and accelerographic responses during recovery from vecuronium induced neuromuscular blockade. 15 ASA class 1 adult patients were studied. Measurements were as follows: 1) Recovery time of T(1)/Tc, of 25%, 50%, 75%, 90% and 100% in each device. 2) Recovery index in each device 3) The values of T(1)>Tc, in EMG and ACC corresponding ta that of MMG. 4) The values of TOF ratio in EMG and ACC corresponding to that of MMG. The results were as follows: 1) Recovery time of T(1).

A Case of Anesthetic Management for Moderate Tetanus / 대한마취과학회지

Pulmonary edema is a recognized comphcation of acute airway obstruction. When pulmonary edema occurs, it usually follows relief of obstruction and is likely to be of noncardiogenic origin. We present a case of noncanhogenic pulmonary edema that occured in a ncy woman who was transfered to our hospital, because of endotracheal intubation failure and unrelieved bronchospasm, during general anesthesia for Cesarian section.