Mitochondrial neurogastrointestinal encephalomyopahty (MNGIE) is a rare disorder and is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms with intestinal dysmotility, and histologically abnormal mitochondria in muscle. A 32-year-old female showed external ophthalmoparesis, bilateral ptosis, quadriparesis, and sensory change below both ankle joints. Level of serum lactic acid was highly increased. The brain MRI showed diffusely increased signal intensity in the centrum semiovale and white matter. Electron microscopic finding showed paracrystalline inclusions in mitochondria of a few muscle fibers. (J Korean Neurol Assoc 19(3):309~312, 2001)
Adult ; Ankle Joint ; Brain ; Female ; Humans ; Lactic Acid ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Mitochondria ; Mitochondrial Encephalomyopathies ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Quadriplegia

BACKGROUND: Anterior cerebral artery (ACA) flow abnormalities on a transcranial Doppler ultrasonography (TCD) represent various conditions, which include hyperemic collateral to the ipsilateral middle cerebral artery (iMCA) or contralateral internal carotid artery (cICA) pathology, and ipsilateral anterior cerebral artery (iACA) stenosis. However, studies related to these conditions have rarely been done. We evaluated the hemodynamic significance of ACA flow abnormalities on TCD without angiographic information. METHODS: We analyzed TCD records, which were recruited consecutively during a 10-month period in our laboratory. ACA abnormalities on TCD were defined as follows: 1) mean flow velocities (mFV) of ACA>80 cm/sec; 2) ipsilateral mFV ACA/MCA> 1.2; 3) anterior cerebral artery veloci-ty ratios (ACAVR)> 1.34. We then correlated TCD patterns with a magnetic resonance angiography (MRA) or trans-femoral cerebral angiography (TFCA). RESULTS: Thirty-five patients were recruited to participate in this study. Based on MRA or TFCA, we found 4 patterns of vascular status which could explain the ACA abnormalities on the TCD. The iMCA pathology was demonstrated in 14 cases, cICA pathology in 11 cases, iACA stenosis in 3 cases, and cACA hypoplasia in 5 cases. Eight cases did not show any vascular pathology. CONCLUSIONS: ACA flow abnormalities should be evaluated with absolute flow velocity indicies, as well as other indexes, which mostly signify hyperemic collateral flow to the iMCA or cICA steno-occlusion. (J Korean Neurol Assoc 19(4):349~353, 2001)
Angiography ; Anterior Cerebral Artery* ; Carotid Artery, Internal ; Cerebral Angiography ; Constriction, Pathologic ; Hemodynamics ; Humans ; Magnetic Resonance Angiography ; Middle Cerebral Artery ; Pathology ; Ultrasonography, Doppler, Transcranial*

There are approximately 20 known species of the genus Cryptosporidium, and among these, 8 infect immunocompetent or immunocompromised humans. C. hominis and C. parvum most commonly infect humans. Differentiating between them is important for evaluating potential sources of infection. We report here the development of a simple and accurate real-time PCR-based restriction fragment length polymorphism (RFLP) method to distinguish between C. parvum and C. hominis. Using the CP2 gene as the target, we found that both Cryptosporidium species yielded 224 bp products. In the subsequent RFLP method using TaqI, 2 bands (99 and 125 bp) specific to C. hominis were detected. Using this method, we detected C. hominis infection in 1 of 21 patients with diarrhea, suggesting that this method could facilitate the detection of C. hominis infections.
Child ; Cryptosporidiosis/*diagnosis/*parasitology ; Cryptosporidium/*classification/*genetics ; Female ; Genotype ; Humans ; Polymerase Chain Reaction/methods ; Polymorphism, Restriction Fragment Length ; Sensitivity and Specificity

Tracheobronchopathia osteochondroplastica (TO) is a rare benign disease of unknown etiology characterized by accumulation of calcium phosphate in the submucosa of large airways and benign proliferation of bone and cartilage resulting in nodular formation. We report a case of tracheobronchopathia osteochondroplastica diagnosed by Endobronchial ultrasonography in a 56-year-old man. Chest Computed Tomography revealed thickening of tracheal and bronchial wall, and multiple nodules through whole trachea. Endobronchial ultrasonography showed numerous submucosal nodules with hetero-echogenecity in the third and fourth layers. Histopathological examination revealed nonspecific bronchitis with squamous metaplasia and metaplastic ossification. We confirmed tracheobronchopathia osteochondroplastica. The patient's symptoms were successfully treated with antibiotics and oxygen supplyment. endobronchial ultrasonography can helpful diagnosis in tracheobronchopathia osteochondroplastica.
Anti-Bacterial Agents ; Bronchitis ; Calcium ; Calcium Phosphates ; Cartilage ; Humans ; Metaplasia ; Middle Aged ; Osteochondrodysplasias ; Oxygen ; Thorax ; Trachea ; Tracheal Diseases

This study aimed to evaluate the imaging and pathological findings in axillary lymph nodes in patients with breast cancer who received concurrent ipsilateral coronavirus disease 2019 (COVID-19) vaccination. Of the 19 women with breast cancer who received concurrent COVID-19 vaccination shot in the arm ipsilateral to breast cancer, axillary lymphadenopathy was observed in 84.2% (16 of 19) of patients on ultrasound (US) and 71.4% (10 of 14) of patients on magnetic resonance imaging (MRI), and 21.0% (4 of 19) of patients were diagnosed with metastasis. Abnormal US and MRI findings of cortical thickening, effacement of the fatty hilum, round shape, and asymmetry in the number or size relative to the contralateral side were noted in more than half of the non-metastatic and metastatic lymph nodes; however, statistical significance was not noted. Axillary lymphadenopathy is commonly observed in patients with breast cancer who receive concurrent ipsilateral COVID-19 vaccination without specific differential imaging features. Thus, understanding the limitations of axillary imaging and cautious interpretation is necessary to avoid overestimation or underestimation of the axillary disease burden.

Tricuspid regurgitation after blunt chest trauma is rarely seen in the emergency department. A 19-year-old patient visited our emergency department with chest discomfort after collision with his brother while skiing. Recently, Skiing as a winter sports has become popular with the Korean people, so there is an increasing tendency for patients with diverse traumas associated with ski accidents to visit the emergency department. From simple abrasions or contusions to deadly injuries with unstable vital signs, we are seeing many kind of injuries in the emergency department. We present the case report of a patient with tricuspid regurgitation after a blunt chest trauma during the skiing.
Contusions ; Emergency Service, Hospital ; Humans ; Siblings ; Skiing ; Sports ; Thorax* ; Tricuspid Valve Insufficiency* ; Vital Signs ; Young Adult

Tricuspid regurgitation after blunt chest trauma is rarely seen in the emergency department. A 19-year-old patient visited our emergency department with chest discomfort after collision with his brother while skiing. Recently, Skiing as a winter sports has become popular with the Korean people, so there is an increasing tendency for patients with diverse traumas associated with ski accidents to visit the emergency department. From simple abrasions or contusions to deadly injuries with unstable vital signs, we are seeing many kind of injuries in the emergency department. We present the case report of a patient with tricuspid regurgitation after a blunt chest trauma during the skiing.
Contusions ; Emergency Service, Hospital ; Humans ; Siblings ; Skiing ; Sports ; Thorax* ; Tricuspid Valve Insufficiency* ; Vital Signs ; Young Adult

Purpose: Li-Fraumeni syndrome (LFS) is a rare autosomal cancer syndrome caused by a germline mutation in the TP53 gene. Breast cancer in LFS patients is of various subtypes;however, limited data are available on the clinicopathological features of these subtypes and their appropriate treatments. This study aimed to review the clinical features and treatments for breast cancer in South Korean patients with germline TP53 mutations. Methods: Data on the clinicopathological features and treatment of all breast cancer patients with LFS were collected retrospectively from the available database of 4 tertiary hospitals in the Republic of Korea. Results: Twenty-one breast cancer cases in 12 unrelated women with confirmed germline TP53 mutations were included in the study. The median age at diagnosis was 33.5 years. The histopathological diagnosis included invasive ductal carcinoma (n = 16), ductal carcinoma in situ (n = 3), and malignant phyllodes tumor (n = 2). While 42% and 31% of the cases were positive for estrogen and progesterone receptors, respectively, 52.6% were human epidermal growth factor receptor 2 (HER2) positive, and 21% were triple-negative. The treatments included mastectomy (52%) and breast-conserving surgery (38%). Five patients underwent radiotherapy (RT). The median follow-up period was 87.5 (8–222) months. There were 3 ipsilateral and 4 contralateral breast recurrences during the follow-up, and 8 patients developed new primary cancers. In the post-RT subgroup, there were 2 ipsilateral and 2 contralateral breast recurrences in 1 patient, and 4 patients had a new primary cancer. Conclusion As reported in other countries, breast cancer in LFS patients in South Korea had an early onset and were predominantly but not exclusively positive for HER2.A multidisciplinary approach with adherence to the treatment guidelines, considering mastectomy, and avoiding RT is encouraged to prevent RT-associated sequelae in LFS patients.

Purpose: Li-Fraumeni syndrome (LFS) is a rare autosomal cancer syndrome caused by a germline mutation in the TP53 gene. Breast cancer in LFS patients is of various subtypes;however, limited data are available on the clinicopathological features of these subtypes and their appropriate treatments. This study aimed to review the clinical features and treatments for breast cancer in South Korean patients with germline TP53 mutations. Methods: Data on the clinicopathological features and treatment of all breast cancer patients with LFS were collected retrospectively from the available database of 4 tertiary hospitals in the Republic of Korea. Results: Twenty-one breast cancer cases in 12 unrelated women with confirmed germline TP53 mutations were included in the study. The median age at diagnosis was 33.5 years. The histopathological diagnosis included invasive ductal carcinoma (n = 16), ductal carcinoma in situ (n = 3), and malignant phyllodes tumor (n = 2). While 42% and 31% of the cases were positive for estrogen and progesterone receptors, respectively, 52.6% were human epidermal growth factor receptor 2 (HER2) positive, and 21% were triple-negative. The treatments included mastectomy (52%) and breast-conserving surgery (38%). Five patients underwent radiotherapy (RT). The median follow-up period was 87.5 (8–222) months. There were 3 ipsilateral and 4 contralateral breast recurrences during the follow-up, and 8 patients developed new primary cancers. In the post-RT subgroup, there were 2 ipsilateral and 2 contralateral breast recurrences in 1 patient, and 4 patients had a new primary cancer. Conclusion As reported in other countries, breast cancer in LFS patients in South Korea had an early onset and were predominantly but not exclusively positive for HER2.A multidisciplinary approach with adherence to the treatment guidelines, considering mastectomy, and avoiding RT is encouraged to prevent RT-associated sequelae in LFS patients.