Waardenburg syndrome is a very rare auditory-pigment syndrome with autosomal dominant inheritance. In his first report in 1951, Waardenburg characterized this syndrome as dystopia canthorum, a high broad nasal bridge, synophrys[confluent eyebrows], heterochromia iridid, a white forelock or early graying, and sensory neural deafness. We observed a case of Type 2 Waardenburg syndrome with openangle glaucoma and, therefore report with literature review.
Deafness ; Glaucoma ; Glaucoma, Open-Angle* ; Waardenburg Syndrome* ; Wills

Incontinentia pigmenti achromians (Ito) begins during childhood and is characterized by progressive appearance of bizarre patchy or whorl-like hypopigmentation without any preceeding or associated inflammatory changes in a fashion that resembles a negative piture of pigmentation in patients with incontinentia pigmenti. Mental, bony and ocular symptoms are not infrequently found in association with incontinentia pigmenti achromians. The incidence is high in the female sex, and there is no hereditary background. A 24-year-old Korean soldier was first seen in May 1974 in dermatologic clinic of Capital Armed Forces General Hospital. Bizarre, reticulated, linear and whorllike hypopigmented macular lesions were noted. On the skin of the trunk and both extremities. The lesions started at the age of 4 year and developed without any inflarnmatory signs Family history did not disclose any type of pigmentation The disorder, and mental, bony and occular manifestations were not found. Biopsy specimen demonstrated that the amount of melanin in the basal layer was decreased in the hypopigmented area, and reveals neither inflammatory changes nor dropping off of melanin granules into the dermis.
Arm ; Biopsy ; Dermis ; Extremities ; Female ; Hospitals, General ; Humans ; Hypopigmentation ; Incidence ; Incontinentia Pigmenti ; Melanins ; Military Personnel ; Pigmentation ; Pigmentation Disorders ; Skin ; Young Adult

No abstract available.
Liver*

No abstract available.
Syndactyly*

No abstract available.
Scimitar Syndrome*

Since early 1980's high resolution ultrasound has been world-widely used for detection of cranial lesions ininfants but not widely used in korea. Authors prospectively analysed ultrasonographic findings of 107 cases whichwere confirmed by CT, autopsy or follow-up studies as supplement. the distribution of 107 cases was intracranialhematoma 40 cases, hydrocephalus 36 cases, hypoxic-ischemic encephalopathy 10 cases, porencephalic cyst 5 cases,cephalhematoma 5 cases, agenesis of corpus callosum 4 cases, medulloblastoma 2 cases and each one case of A-Vmalformation, intraventricular cyst, Dandy Walker cyst, lipoma and hydranecephaly. We could conclude thatneurosonography of infants was very useful and effective method in detection of cranial lesions such asintracranial hematoma, especially germinal matrix hemorrhage or intraventricular hemorrhage in preterm infant,hydrocephalus, hypoxic-ischemic encephalopathy and congenital anomalies.
Agenesis of Corpus Callosum ; Autopsy ; Follow-Up Studies ; Hematoma ; Hemorrhage ; Humans ; Hydrocephalus ; Hypoxia-Ischemia, Brain ; Infant ; Korea ; Lipoma ; Medulloblastoma ; Methods ; Prospective Studies ; Ultrasonography ; Walkers

No abstract available.
Brain* ; Chromosomes, Human, Pair 10* ; Molecular Biology*

BACKGROUND: Carbapenem-resistant Enterobacteriaceae (CRE) with acquired metallo β-lactamase (MBL) resistance have been increasingly reported worldwide and associated with significant mortality and morbidity. Here, an outbreak of genetically related strains of Klebsiella pneumoniae producing the imipenemase (IMP)-1 MBL in a medical intensive care unit (MICU) in Korea is reported. METHODS: Since isolating carbapenem-resistant K. pneumoniae (CRKP) at the MICU of the hospital on August 10, 2011, surveillance cultures for CRE in 31 hospitalized patients were performed from August to September 2011. Carbapenem resistance was determined based on the disk diffusion method outlined in the Clinical and Laboratory Standards Institute guidelines. Polymerase chain reaction (PCR) was performed for genes coding for β-lactamase. Associations among isolates were assessed via pulsed-field gel electrophoresis (PFGE). In addition, a surveillance study of environmental cultures and health-care workers (HCWs) was conducted in the MICU during the same time frame. RESULTS: During the study period, non-duplicated CRKP specimens were discovered in four patients in the MICU, suggestive of an outbreak. On August 10, 2011, CRKP was isolated from the sputum of a 79-year-old male patient who was admitted to the MICU. A surveillance study to detect additional CRE carriers by rectal swab revealed an additional three CRKP isolates. PCR and sequencing of the four isolates identified the presence of the IMP-1 gene. In addition, PFGE showed that the four isolated strains were genetically related. CRE was not identified in specimens taken from the hands of HCWs or other environmental sources during surveillance following the outbreak. Transmission of the carbapenemase-producing Enterobacteriaceae strain was controlled by isolation of the patients and strict contact precautions. CONCLUSIONS: This study shows that rapid and systemic detection of CRE and strict infection controls are important steps in preventing nosocomial transmission.
Aged ; Clinical Coding ; Critical Care* ; Diffusion ; Disease Outbreaks ; Drug Resistance, Bacterial ; Electrophoresis, Gel, Pulsed-Field ; Enterobacteriaceae ; Hand ; Humans ; Infection Control ; Intensive Care Units* ; Klebsiella pneumoniae* ; Klebsiella* ; Korea ; Male ; Methods ; Mortality ; Pneumonia ; Polymerase Chain Reaction ; Sputum

A pathological study was done to elucidate sequential changes of the lungs in various time intervals following experimental paragonimiasis in 15 dogs and 15 cats. The dogs and cats were fed with 30-50 metacercariae of Paragonimus westermani, and were sacrificed at 15, 20, 30, 45, 60, 90 and 120 days after infection respecively. Autopsies were performed immediately after death. Gross and microscopic examination of the lungs showed following findings: There were no qualitative difference in pathological findings between dogs and cats. Pathological findings were first noticed at 20 days of infection in thoracic cavity, which consisted of fibrinous plueritis along with superficial hemorrhage. Although no worm was found in the lung parenchyma at this period, juveniles were seen in pleural cavity together with turbid effusion. Paragonimus juveniles were first recognized inside the lung parenchyma by 30 days of infection. This was the period when the lungs showed multiple areas of hemorrhage and probably active penetration by smaller worms. Hemorrhagic bronchopneumonia was quite pronounced from this stage through 45 days of infection. Paragonimus worm cyst was essentially composed of fibrous scar and heavy inflammatory cellular infiltrate. The lining epithelial cells were first became noticed by 2 months of infection. And these epithelial cells were thought to be probably transformed alveolar lining cells rather than bronchiolar epithelial cells. As the infection progress, the cyst wall became more stabilized and often showed squamous metaplasia. Fibrinous pleuritis with pleural effusion was very prominent finding in early periods of infection. Bronchiolitis and focal vascular sclerosis were often seen in experimental paragonimiasis.
parasitology-helminth-trematoda ; Paragonimus westermani ; paragonimiasis ; pneumonia ; cyst ; hemorrhage ; pleuritis ; effusion ; bronchiolitis ; sclerosis

The advent of the global pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) necessitates a thorough study of the stability and transmissibility in the environment. We characterized the stability of SARS-CoV-2 in three water matrices: fresh, tap, and seawater. The minimum infective dose of SARS-CoV-2 in Vero cells was confirmed to be 10 3 PFU/mL. The stability of SARS-CoV-2 varied according to the water matrix: infective SARSCoV-2 was undetectable after treatment with fresh water and seawater, but remained detectable for 2 days in tap water, when starting with an initial concentration of 10 4 PFU/mL. When the starting concentration was increased to 10 5 PFU/mL, a similar trend was observed. In addition, viral RNA persisted longer than infectious virus in all water matrices. This study was conducted in stagnant water containing a significantly high titer of virus, thus, human-to-human transmission of SARS-CoV-2 through the actual aquatic environment is expected to be rare.