A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult

Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.

Listerial peumonia and bacteremia in pregnant woman / 대한내과학회지

No abstract available.

A Case of Histoplasmosis Diagnosed on Peripheral Blood Smear / 대한혈액학회지

Histoplasmosis is particularly virulent in infants, the elderly and immunocompromised individuals. Recently the authors experienced a case of histoplasmosis diagnosed on peripheral blood smear in a newborn. So the authors report a case with brief review of literature.

Alveolar Soft / 대한정형외과학회잡지

Alveolar soft-part sarcoma is a rare malignant neoplasm. It occurs most commonly in the deep tissue of the extremity, particularly in the anterior aspect of the thigh. It usually presents as a slow-growing, painless mass with little functional impairment. Because of the relative lack of symptoms, it may be easily overlooked. The course of the disease tends to be long but unrelenting, and local recurrences are frequent. There were no lifetime cures in the reported cases. This tumor is relatively unknown to orthopaedic surgeons, and a wider knowledge of its characteristics may lead to its more frequent recognization, Recently, two cases of alveolar soft-part sarcoma were encountered on the orthopaedic department of Dong-kang Hospital, Ulsan. In case 1, the tumor was found in the vastus lateralis muscle; and in case 2, vastus intermedius muscle. The authors will present these cases in detail to provide a glance at this very rare but more frequently recognizable tumor, the alveolar soft-part sarcorna.

Infestation status of Paragonimus westermani metacercariae in the second intermediate host in Ulchin county, Kyungpook Province

A study on the population density of crayfish intermediate hosts and infestation status of crayfish with encysted larvae of Paragonimus westermani in Ulchin county, Kyungpook province, Korea was conducted from May to October in 1986. The population density of the crayfish ranged from 1 to 13, with an average of 4 per manhour. Among the six habitats, Ducheon had a somewhat higher density than that of the others. Of eight hundred and seventeen crayfish examined, 127 or 15.5 per cent harboured the metacercarial larvae of Paragonimus westermani. The majority of the larvae were found in three parts of the body: most frequently in the cephalothorax, next in the gills, and then in the liver. The average number of metacercarial larvae per infected crayfish ranged from 1.0 to 1.9, with an average of 1.7. Summarizing the results, this study indicates that the population density of crayfish intermediate host and infestation rates for the crayfish with encysted larvae of Paragonimus westermani in Ulchin county of Kyungpook province is relatively high.