The LEOPARD syndrome is an acronym and serves as a mnemonic for the features of this autosomal dominant syndrome : L - lentigines (multiple), E - electrocardiographic conduction abnormalities, O - ocular hypertelorism, P - pulmonary stenosis, A - abnormalities of genitalia, R - retardation of growth, and D - deafness (sensoryneural). The main features of the syndrome are multiple lentigines in combination with congenital heart malformations. These frequently accompanied cardiac abnormalities are pulmonary stenosis, hypertrophic cardiomyopathy, and various ECG abnormalities. It is advisable to make cardiac evaluation in a patient with LEOPARD syndrome in spite of no clinical symptoms or signs, since cardiac dysfunction may be progressive or developed later. We experienced a case of this syndrome in a 31 year-old female, presenting multiple lentigines, ocular hypertelorism, and congenital cardiac abnormalities of incomplete right bundle branch block and cor triatriatum. We report the case with brief literature review.
Adult ; Bundle-Branch Block ; Cardiomyopathy, Hypertrophic ; Cor Triatriatum* ; Deafness ; Electrocardiography ; Female ; Genitalia ; Heart ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome* ; Panthera* ; Pulmonary Valve Stenosis

A paragonimiasis infestation is caused by the paragonimus species. It is commonly found in the lung but has also been found to exist extrapulmonary infestations including cerebral, spinal, subcutaneous, hepatic, splenic, abdominal, urinary, and gynecologic infestation. On the other hand, a cutaneous infestation is extremely rare. Human infestation is caused by ingesting raw or undercooked intermediate hosts. Because paragonimus westermani larva mature to an adult worm in the lung, the possibility of identifying the adult worm of paragonimus westermani at extrapulmonary region is very rare. CASE: After ingesting a fresh-water crab 1 month prior to the hospital visit, a 45-year old female patient was suffering from right pleuritic chest pain during that 1 month. The patient also complained of a palpable mass that was movable and migrating, and it was localized at the right upper quadrant of the abdomen. The eosinophil fraction of the white blood cell of peripheral blood and pleural fluid was elevated to 55.1% and 90%, respectively. Parasite eggs were not found in her sputum and stool examination. By using the enzyme-linked immunosorbent assay (ELISA), the paragonimus-specific IgG antibody titer was elevated to 0.28. During incisional biopsy, we were able to find the young adult worm of paragonimus westermani. We experienced the rare case of ectopic paragonimiasis with pleural effusion that was confirmed by identifying the adult worm of paragonimus westermani within the abdominal subcutaneous tissue. We report a case with brief literature reviews.
Abdomen ; Adult ; Biopsy ; Chest Pain ; Eggs ; Enzyme-Linked Immunosorbent Assay ; Eosinophils ; Female ; Hand ; Humans ; Immunoglobulin G ; Larva ; Leukocytes ; Lung ; Middle Aged ; Ovum ; Paragonimiasis* ; Paragonimus ; Paragonimus westermani ; Parasites ; Pleural Effusion* ; Sputum ; Subcutaneous Tissue* ; Young Adult

Isoniazid is a first-line drug in the treatment of tuberculosis. A variety of adverse reactions of isoniazid have been reported. These include hepatitis, peripheral neuropathy, skin rashes, neurologic disturbances and hematologic alterations. Among these, acute pancreatitis due to isoniazid is very rare. We report a case of acute pancreatitis due to isoniazid confirmed by rechallenge test with review of some literatures.
Exanthema ; Hepatitis ; Isoniazid* ; Pancreatitis* ; Peripheral Nervous System Diseases ; Rifampin ; Tuberculosis

BACKGROUND: The significance of ER expression and hormone manipulation in gastric cancer is not established. There have been several reports supporting the role of the ER gene as tumor suppressor gene in carcinogenesis. The ER-alpha gene is located on chromosome 6q25.1. Deletions of the long arm of chromosome 6 are common in gastric carcinoma, suggesting the presence of tumor suppressor genes in this region. The proportion of ER-positive gastric cancers ranges between 0% and 67% depending on the method of detection. Epigenetic inactivation might explain the loss of ER-alpha gene expression in gastric cancer. There is no information available regarding the methylation status of the ER-alpha gene promoter region in gastric cancer so far. The aim of this study was to assess the expression of ER-alpha in gastric cancer cell lines and determine whether methylation of the 5' promoter region is associated with loss of ER-alpha expression in gastric cancer. METHODS: We investigated such methylation in 13 gastric cancer cell lines. Western blot analysis, reverse transcription-polymerase chain reaction (PCR), methylation-specific PCR (MS-PCR) and bisulfite sequencing analyses were used. Immunohistochemical staining for the ER-alpha gene was dome for forty-two paraffin embedded tissues from gastric cancer patients. RESULTS: ER-alpha protein was not detected in any cell line, ER-alpha mRNA was expressed in only Kato III cell line. MS-PCR and bisulfite sequencing showed all thirteen gastric cancer cell lines had methylated CpG regions in their ER-alpha gene promoters. Immunohistochemical staining of ER-alpha showed no positivity in any of examined samples. CONCLUSION: Inactivation of ER-alpha gene expression in gastric cancer cell lines appears associated with CpG island methylation near the TGA initiation codon of the ER-alpha gene.
Arm ; Blotting, Western ; Carcinogenesis ; Cell Line ; Chromosomes, Human, Pair 6 ; Codon, Initiator ; CpG Islands ; Epigenomics ; Estrogens* ; Gene Expression ; Genes, Tumor Suppressor ; Humans ; Methylation ; Paraffin ; Polymerase Chain Reaction ; Promoter Regions, Genetic ; RNA, Messenger ; Stomach Neoplasms*