Cutaneous Mycobacterium massiliense Infection of the Sole of the Feet

Mycobacterium massiliense which is recognized as a separate species from M. abscessus is little known regarding its clinical patterns and the response to treatment. We present a case of a localized cutaneous infection due to M. massiliense of the sole associated with acupuncture. M. massiliense was identified via polymerase chain reaction-hybridization analysis. We treated the patient with single-drug therapy consisting of clarithromycin for 4 months and the patient showed a significant response to this treatment.

A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation / 대한내과학회지

Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon 8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.

A case of glycogen storage disease type Ia performed molecular genetic analysis / 대한내과학회지

Glycogen storage disease type Ia is caused by a deficiency of glucose-6-phosphatase (G6PC), which leads to glycogen accumulation in many organs including liver. We could diagnose a case of glycogen storage disease type Ia with molecular genetic analysis. A 17-year-old man visited Yeungnam university hospital because of abdominal discomfort. Clinical features were characterized by short stature, hepatosplenomegaly, accompanying hypoglycemia, hypercholesterolemia, hyperuricemia. Liver needle biopsy disclosed compatible findings of glycogen storage disease. Molecular genetic analysis of the G6PC gene was performed by direct sequencing method. We identified two mutations within the exon 5 of the G6PC gene, 727G>T and 743G>A. We report this rare case with a review of the literature.