Journal of Korean medical science
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J. Korean Med. Sci. · Oct 2006
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. ⋯ After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.
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Primary cardiac sarcoma is a rare disease in adults. It is also associated with poor prognoses, due to diagnostic delay, therapeutic difficulty, and high metastatic potential. The coincidence of pregnancy and a primary cardiac intimal sarcoma is extremely rare. ⋯ However, 10 months after the initial clinical onset, the patient suddenly died. Surgery is the standard treatment for cardiac tumors, and their removal should always be attempted, even in pregnant women. Although the overall survival rates of the patients are rather poor, palliative cardiac surgery allows the prolonging of pregnancy, until an acceptable fetal viability level is reached.
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J. Korean Med. Sci. · Oct 2006
Case ReportsA case of leukemic pleural infiltration in atypical chronic myeloid leukemia.
Pleural effusion in chronic myeloid leukemia (CML) is poorly understood and rarely reported in the literature. When the pleural effusion is caused by leukemic pleural infiltration, the differential white blood cell count of the effusion is identical to that of the peripheral blood, and the fluid cytology reveals leukemic blasts. We report here a case of bilateral pleural involvement of atypical CML in an 83-yr old male diagnosed with pancreatic cancer with abdominal wall metastasis and incidental peripheral leukocytosis. ⋯ Following 3 months of treatment with gemcitabine for pancreatic cancer, he developed bilateral pleural effusions. All stages of granulocytes and a few blasts were present in both the pleural fluid and a peripheral blood smear. After treatment with hydroxyurea and pleurodesis, the pleural effusion resolved.