Fibrodysplasia ossificans progressiva (FOP) is a rare connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae and skeletal muscles. We document the radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP.
Child ; Connective Tissue ; Counseling ; Diagnosis ; Fascia ; Fathers ; Humans ; Ligaments ; Muscle, Skeletal ; Myositis ; Myositis Ossificans* ; Ossification, Heterotopic ; Paternal Age ; Tendons ; Toes ; Twins, Monozygotic ; Wills

Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated through positional cloning. The gene encodes a 502 amino acid protein, which contains 12 exons and spans 9 kb of genomic DNA. The function of the encoded protein is not well understood. The clinical diagnosis of WAS can be difficult and is usually confirmed by the detection of WASP gene mutations and the expression of WSAP in patient blood sample using genetic analysis. We reported a case of a 13-month old boy with WAS who was identified with the novel mutation in exon 2 of WASP gene by direct sequencing and the complete absence of WASP expression by immunoblotting.
Arm ; Blood Platelets ; Clone Cells ; Cloning, Organism ; Diagnosis ; DNA ; Eczema ; Exons* ; Humans ; Immune System Diseases ; Immunoblotting ; Incidence ; Infant ; Male ; Phenotype ; Thrombocytopenia ; Wasps* ; Wiskott-Aldrich Syndrome* ; X Chromosome

PURPOSE: Infiltrating lobular carcinoma (ILC) represents approximately 10% of all breast cancers. Its detection and staging for appropriate surgical planning may be difficult on account of its unique growth pattern, including a linear file arrangement of the tumor cells and a planar growth pattern and the resulting low density of the lesions. The purpose of this study was to evaluate the clinicopathological features of an ILC of the breast including multifocality, the preoperative accuracy of the pathological diagnostic tools, and its impact on the surgical procedure. METHODS: Between 1997 and 2003 at the Asan Medical Center, a group of 63 patients with a pathologically proven invasive lobular carcinoma who had undergone surgery were included. They were all in stage I~III, and their medical records, mammographic and sonographic results, and pathologic findings were reviewed retrospectively. RESULTS: Of the 63 patients with a mean age of 48 years (range 35 to 70), multifocal lesions were identified in 27.0% by a pathological examination. For a preoperative evaluation of a multifocal lesion, the sensitivity and positive prediction value were 21.4% and 50% by mammography, and 92.9% and 52.0% by ultrasonography, respectively. Only 27.0% of all patients were confirmed as having an ILC preoperatively; surgical excision or incision biopsies 75%, core-needle biopsy 36.4%, frozen biopsy 22.7%, FNA 5.9%. Conservative surgery was performed in only 14.3% and a mastectomy was performed on 85.5%. The mean tumor size was 3.0 cm, and according to the TNM stage, stage I was found in 22.2%, stage II in 58.7%, stage III in 19.1%. ER-positive was found in 83.9% and PR-positive was found in 74.2%. Seven out of 11 patients, who underwent the planed conserving surgery, had a positive resection margin, 1 case had re- excision, 2 cases underwent mastectomies, and 4 cases underwent radiation therapy without additional surgery. CONCLUSION: Since invasive lobular carcinomas have more often multifocal lesions and a preoperative accurate evaluation may be difficult pathologically or radiologically, a careful evaluation of the accurate tumor extent as well as the multifocal lesion is needed particularly for patients with an ILC considering conserving surgery.
Biopsy ; Breast* ; Carcinoma, Lobular* ; Chungcheongnam-do ; Diagnosis* ; Humans ; Mammography ; Mastectomy ; Medical Records ; Retrospective Studies ; Ultrasonography

BACKGROUND: It has been known that internal thoracic artery grafting has a better patency rate compare to other graft conduits in coronary revascularization. Better patency rates can be expected in more coronary arteries with the use of bilateral internal thoracic artery. However, there were some debates on the complications after the use of bilateral internal thoracic artery. The purpose of our study was to reveal the results of bilateral internal thoracic artery. MATERIAL AND METHOD: The 26 coronary artery bypass operations with bilateral internal thoracic artery were performed from July 2001 to May 2002. We compared the results of 8 diabetic patients to those of 18 non-diabetic patients. We compared the results of BITA (bilateral internal thoracic artery) group to those of SITA (single internal thoracic artery) group that were 20 patients and performed during same period. RESULT: There was no mortality. There was one wound complication in the diabetic group and one in the non-diabetic group. There were no significant differences in operation time, duration of mechanical ventilation, amount of bleeding, infusing duration of cardiotonics, and complication between two groups. There were no significant differences in results between the BITA group and the SITA group. CONCLUSION: There were no significant differences in early results between the BITA group and the SITA group, and there were no significant differences in results between the diabetic group and the non-diabetic group. We think coronary artery bypass grafting with the use of bilateral internal thoracic artery is considered in diabetic patients.
Cardiotonic Agents ; Coronary Artery Bypass ; Coronary Vessels ; Hemorrhage ; Humans ; Mammary Arteries* ; Mortality ; Respiration, Artificial ; Transplants ; Wounds and Injuries

OBJECTIVE: The purpose of this study was to find an optimal delivery route for clinical trials of intrathecal cell therapy for spinal cord injury in preclinical stage.METHODS: We compared in vivo distribution of Cy5.5 fluorescent dye in the spinal cord region at various time points utilizing in vivo optical imaging techniques, which was injected into the lateral ventricle (LV) or cisterna magna (CM) of rats.RESULTS: Although CM locates nearer to the spinal cord than the LV, significantly higher signal of Cy5.5 was detected in the thoracic and lumbar spinal cord region at all time points tested when Cy5.5 was injected into the LV. In the LV injection Cy5.5 signal in the thoracic and lumbar spinal cord was observed within 12 hours after injection, which was maintained until 72 hours after injection. In contrast, Cy5.5 signal was concentrated at the injection site in the CM injection at all time points.CONCLUSION: These data suggested that the LV might be suitable for preclinical injection route of therapeutics targeting the spinal cord to test their treatment efficacy and biosafety for spinal cord diseases in small animal models.
Animals ; Cell- and Tissue-Based Therapy ; Cisterna Magna ; Fluorescence ; Lateral Ventricles ; Models, Animal ; Optical Imaging ; Rats ; Spinal Cord ; Spinal Cord Diseases ; Spinal Cord Injuries ; Treatment Outcome

PURPOSE: The locoregional recurrence (LRR) in breast cancer, without distant metastasis has traditionally been regarded as a predictor of subsequent distant metastasis. This study was designed to attain the survival rate, disease progress in patients with a LRR only and to approve a locoregional treatment able to increase the survival in specific locoregional recurrent breast cancer. METHODS: The records of 223 patients with LRR, after initial treatment at the Asan Medical Center, between 1989 and 2003, were retrospectively reviewed. The patients were classified into the LRR only and simultaneous distant metastasis groups with the LRR group subdivided into the operable and inoperable groups. The data were analyzed using SPSS 11.0. RESULTS: There were 152 and 71 patients in the LRR only and simultaneous distant metastasis groups respectively: 105 patients in the LRR only group were operable cases. The 5-year survival rate of LRR was 42.5%, but this was 50.1% in the LRR only group. The 5-year survival rates following a recurrence in the operable and inoperable groups were 66.2% and 21.1%. On multivariate analysis, age at the primary surgery, tumor size, hormone receptor status and DFI were independent prognostic factors for survival. The operable group indicated less tumor size at the primary surgery, less lymph node metastasis and more chest wall or axillary lymph node recurrences, compared to the inoperable group. CONCLUSION: In some of the LRR only cases, the survival rate was relatively good, especially in the operable group. Age at the primary surgery, tumor size, hormone receptor status and DFI were independent prognostic factors for survival. Surgical treatment could be resulted in good responses to the LRR patients with early stage or chest wall or axillary recurrences.
Breast Neoplasms* ; Breast* ; Chungcheongnam-do ; Humans ; Lymph Nodes ; Multivariate Analysis ; Neoplasm Metastasis ; Recurrence* ; Retrospective Studies ; Survival Rate ; Thoracic Wall

Despite advancements in treating ruptured cerebral aneurysms, an aneurysmal subarachnoid hemorrhage (aSAH) is still a grave cerebrovascular disease associated with a high rate of morbidity and mortality. Based on the literature published to date, worldwide academic and governmental committees have developed clinical practice guidelines (CPGs) to propose standards for disease management in order to achieve the best treatment outcomes for aSAHs. In 2013, the Korean Society of Cerebrovascular Surgeons issued a Korean version of the CPGs for aSAHs. The group researched all articles and major foreign CPGs published in English until December 2015 using several search engines. Based on these articles, levels of evidence and grades of recommendations were determined by our society as well as by other related Quality Control Committees from neurointervention, neurology and rehabilitation medicine. The Korean version of the CPGs for aSAHs includes risk factors, diagnosis, initial management, medical and surgical management to prevent rebleeding, management of delayed cerebral ischemia and vasospasm, treatment of hydrocephalus, treatment of medical complications and early rehabilitation. The CPGs are not the absolute standard but are the present reference as the evidence is still incomplete, each environment of clinical practice is different, and there is a high probability of variation in the current recommendations. The CPGs will be useful in the fields of clinical practice and research.
Aneurysm ; Brain Ischemia ; Cerebrovascular Disorders ; Diagnosis ; Disease Management ; Hydrocephalus ; Intracranial Aneurysm ; Mortality ; Neurology ; Quality Control ; Rehabilitation ; Risk Factors ; Search Engine ; Subarachnoid Hemorrhage ; Surgeons