Infants with Sandhoff disease typically appear normal until 3–6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture. Within 3 months of identification of difficulty in swallowing, the patient showed a significant decrease in food intake, with rapid deterioration of nutritional status. We report our case with a review of the literature.
Deglutition Disorders ; Deglutition* ; Eating ; Female ; Humans ; Infant ; Motor Skills ; Noise ; Nutritional Status ; Paralysis ; Posture ; Reflex, Startle ; Sandhoff Disease* ; Seizures

BACKGROUND: Osteoporosis after menopause is known as a disease that needs preventive measures before medical treatment. Many patients, however, do not undergo hormone therapy to prevent it. This paper investigates some obstacles to hormone replacement therapy (HRT). METHOD: A total of 85 menopausal women who under went bone-mineralodensitometry (BMD) examination at Chuncheon Sungshim Hospital Health Care Clinic from May, 1995 to April, 1997 were the subjects of our study. We interviewed them by telephone, examined their medical records including their BMD results. We also examined what the obstacles were for them to receive HRT for osteoporosis. RESULTS: The average age of the subjects was 55.8years. Only 40 women (47%) replied that they knew beforehand the purpose of the BMD examination. The rest of the subjects replied that they simply went through the examination because it was inclusive to health items. Those who had heard of HRT for osteoporosis were only 43 people because(50.1%), and those who did not currently receive HRT amounted to 32 (74.4%). The reasons why they do not undergo the therapy were fear of cancer, no symptoms related to osteoporosis, financial difficulty, and weight gain. Among the 32 subjects, only 1 person replied that she would not receive the HRT even if the above obstacles were removed. Therefore, it seems that most of our subjects would receive HRT if such obstacles removed. Those who were currently receiving HRT were 11 people(12.9%). According to the open questionnaire, many of them replied that they do not feel any inconvenience while receiving the HRT, but some of them complained of epigastric pain, dysmenorrhea, or mastalgia. They replied that after the HRT they felt no arthralgia and felt far better in body and mind than before treatment. All the 11 people replied that they will continue to receive the HRT. CONCLUSION: The main reason why so few people received HRT for osteoporosis proved to be the lack of knowledge of the therapy. Even those who had heard of HRT complained about the negative aspects, which in fact can be overcome, and as a result a considerable number of them do not receive HRT. Therefore we conclude that in order to increase the number of patients who will undergo HRT for osteoporosis after menopause we need to strengthen education about the merits of this therapy rather than just performing BMD examination.
Arthralgia ; Delivery of Health Care ; Dysmenorrhea ; Education ; Female ; Gangwon-do ; Hormone Replacement Therapy* ; Humans ; Mastodynia ; Medical Records ; Menopause ; Osteoporosis ; Osteoporosis, Postmenopausal* ; Telephone ; Weight Gain ; Surveys and Questionnaires

STUDY DESIGN: A retrospective study of patients with a posterolateral spinal fusion for an unstable thoracolumbar junction. OBJECTIVES: To evaluate the efficacy of a posterolateral spinal fusion for an unstable thoracolumbar junction. SUMMARY OF LITERATURE REVIEW: Posterolateral spinal fusions are well documented for their efficacy in the lumbar and lumbosacral spine, and have also been applied to the thoracolumbar junction in the lumbar area. The thoracolumbar junction, however, is a little different from the lumbar spine, in its anatomical and biomechanical aspects, and posterolateral fusions have not been well evaluated in these respects. MATERIALS AND METHODS: Fourteen consecutive patients, who had posterolateral spinal fusions, with instrumentation for an unstable condition, including T12-L1 segment, and followed for more than one year, were included. In 11 patients, all the fractures had been decompressed posteriorly, for degenerative conditions in 2, and for a neoplastic pathology in the other one. The radiographs concerning the lateral fusion mass were reviewed according to Lenke's classification, the change in the segmental sagittal angle of the fused segment and the fixation failure of the instrumentation. The medical records relating to the neurological recovery were reviewed using the modified Frankel grading, and the overall clinical results of treatment by the Kirkaldy-Willis criteria. RESULTS: All patients disclosed big, bilateral and solid fusion masses, with the exception of one patient who revealed a big, solid fusion mass on one side, and small, thin fusion mass on the other. No patient revealed more than 3 degrees of mobility on flexion-extension lateral radiographs, any evidence of fixation failure of the instrumentation. The neurological recovery, by the modified Frankel grading system, showed an average 1.3 improvement. The clinical results were excellent in 6, good in 6 and fair in 2 patients, with no poor results. CONCLUSIONS: A posterolateral spinal fusion can be effectively applied in an unstable thoracolumbar junction, such as in the lumbar and lumbosacral spine, provided there is precise preparation of the graft beds, enough bone grafts and correction of the excessive kyphotic angle by the compression fixation of the posterior instrumentation.
Classification ; Humans ; Medical Records ; Pathology ; Retrospective Studies ; Spinal Fusion ; Spine ; Transplants

BACKGROUND: Performing antibody screening and identification tests before blood transfusion are important since unexpected red cell antibodies can cause acute or delayed hemolytic transfusion reactions. We investigated the frequency and distribution of unexpected red cell antibodies that were detected in cancer patients at National Cancer Center (NCC) and we compared our results with the previously published data. METHODS: From January 2001 to June 2009, 56,660 sera of the cases from NCC were screened and 197 sera were identified with using the Ortho BioVue System (Ortho-Clinical Diagnostics, Raritan, USA) and the conventional tube method. In case of the presence of autoantibody, the ZZAP method was performed to distinguish alloantibody from autoantibody. RESULTS: 759 cases (1.34%) showed positive results out of all 56,660 cases that underwent unexpected antibodies screening. Among them, unexpected antibodies were identified in 197 cases. The most frequently detected antibody was anti-Le(a) in 62 cases (31.47%), followed by anti-E in 32 cases (16.24%) and anti-Le(b) in 18 cases (9.14%). Unidentified antibodies were detected in 43 cases (21.83%). In the cases with a previous history of transfusion at the NCC and the screening results were altered from negative to positive, anti-E was the most frequently detected antibody (8/30 cases, 26.67%), and this included the mixed antibodies. CONCLUSION: Compared with the previous reports, this study showed that the frequency and distribution of the unexpected red cell antibodies of cancer patients were not different from those of general patients. Moreover, there was no apparent difference of frequency of the unexpected red cell antibodies among the diagnosed cancers. Our research may provide data for the frequency and characteristics of red cell antibodies because we targeted only cancer patients.
Antibodies ; Blood Group Incompatibility ; Blood Transfusion ; Humans ; Mass Screening

Ingestion of strong acids or strong alkalies may produces severe inflammation on the mucosa of the esophagus and this may also causes esophageal stricture. Several forms of non-operative dilatations have been utilized for the treatment of esophageal stricture and they have shown good results. Yet some patients do not achieve acceptable symptom relief despite of intensive dilatation. Temporary placement of esophageal stent has recently been used in some of these patients. Furthermore, mitomycin C has been used as a conservative treatment for refractive esophageal stricture in children, yet its efficacy has not been well established. We experienced a case of a 64-year old man with severe, recurrent esophageal stricture, and this was successfully managed by temporary placement of an esophageal stent, together with a spray of mitomycin C. We report on this case along with the review of the literature.
Alkalies ; Child ; Dilatation ; Eating* ; Esophageal Stenosis* ; Esophagus ; Humans ; Inflammation ; Lye* ; Middle Aged ; Mitomycin* ; Mucous Membrane ; Stents*

A 34 year-old excavator driver was found dead at stone quarry in Cheongwon, North Chungcheong Province, with a severely burnt mobile phone in his shirt pocket and with his chest bruised and ribs fractured. An emergency physician examined him and said that high pressure from an explosion damaged his lungs and heart, leading to his death. So, a number of Korean and foreign newspapers reported that phone battery explosion killed the man. Autopsy showed that the deceased had fractures all over the chest and lacerations of the heart and the lungs. The damages seemed too extensive to be caused by a single mobile phone explosion. Lithium-ion polymer batteries used in mobile phones can catch fire by external forces but they hardly explode like a bomb. We recommended police to reinvestigate the scene and co-worker. So, police reinvestigated the accident scene and the co-worker. The co-worker told police that he hit the deceased while reversing his drill rig at a stone quarry. The incident reminds of us that our postmortem investigation system must be revised.
Autopsy ; Bombs ; Cellular Phone ; Emergencies ; Explosions ; Fires ; Heart ; Humans ; Lacerations ; Lung ; Mandrillus ; Periodicals ; Police ; Polymers ; Ribs ; Thorax

BACKGROUND: Pulsed-field gel electrophoresis (PFGE) has been regarded a standard method for genotyping in epidemiologic studies. However, it is tedious and time-consuming to perform. Two alternative genotyping methods have recently been developed using the polymerase chain reaction (PCR):amplified fragment length polymorphism (AFLP) and infrequent restriction site-polymerase chain reaction (IRS-PCR). These methods have not yet been applied yet to common pathogens such as Staphylococcus aureus. The purpose of this study was to determine the applicability of AFLP and IRS-PCR for the genotyping of E. coli and S. aureus isolates. METHODS: We performed PFGE, AFLP, and IRS-PCR on clinical isolates of E. coli (n=27) and S. aureus (n=30). We assessed each method in terms of discriminatory power, quality, and efficiency. RESULTS: In E. coli, the discriminatory powers of IRS-PCR and AFLP were comparable to that of PFGE. PFGE discerned 24 (88.8%) out of 27 strains, IRS-PCR discerned 22 (81.5%) out of 27, and AFLP discerned 25 (92.6%) out of 27. In the case of S. aureus, PFGE discerned 27 (90%) out of 30 strains, while both IRA-PCR and AFLP discerned 12 (40%) out of 30. The test-ing took four days to complete with PFGE, two days with AFLP, and was completed within one day with IRS-PCR. IRS-PCR showed better resolution than both PFGE and AFLP. CONCLUSION: In cases of E. coli, AFLP and IRS-PCR could be good alternatives for epidemiologic typing, as they offer better efficiency and comparable discriminatory power to PFGE. On the other hand, IRS-PCR and AFLP do not seem to be suitable for the strain-to-strain differentiation of S. aureus.
Electrophoresis, Gel, Pulsed-Field* ; Escherichia coli* ; Escherichia* ; Hand ; Molecular Typing* ; Polymerase Chain Reaction ; Staphylococcus aureus* ; Staphylococcus*

Duodenal lipomas are relatively uncommon and asymptomatic unless they are large. Tumors greater than 4 cm in diameter can cause obstructive symptoms as a result of intussusception necessitating a surgical resection. However, acute upper gastrointestinal bleeding is an extremely rare complication. Duodenal lipomas are most often submucosal but they can also be subserosal. Their shape can vary, and they can be either sessile or pedunculated. The overlying mucosa is usually normal but it may be ulcerated. Those that cause symptoms require treatment. Endoscopic snare polypectomy has been used to treat clinically symptomatic lipomas. A detachable snare may reduce the risk of complications after a polypectomy, including bleeding and perforation. We report a case of duodenal lipoma accompanied by massive upper GI bleeding that was treated by an endoscopic polypectomy using a detachable snare.

We describe a 39-year-old man with spontaneous rupture of a gastric stromal tumor causing hemoperitoneum. Ultrasonography showed a large mass broadly abutting the stomach and liver. Computed tomography demonstrated a heterogeneous enhanced mass arising from the stomach and focal perforation of the tumor with hemoperitoneum; endoscopic ultrasonography showed an exophytic heterogeneous mass originating from the gastric muscle layer. Angiography revealed that the right gastric artery was the main artery supplying the tumor. A gastric stromal tumor with bloody fluid in the peritoneal cavity was seen at the laparotomy. The tumor was excised completely, and subsequent histological and immunohistochemical studies indicated that it was a gastric stromal tumor. We report a relatively rare case of gastric stromal tumor causing hemoperitoneum due to spontaneous rupture of the tumor.
Adult ; Angiography ; Arteries ; Endosonography ; Hemoperitoneum ; Humans ; Laparotomy ; Liver ; Muscles ; Peritoneal Cavity ; Rupture, Spontaneous ; Stomach

PURPOSE: Since 2001, breast cancer has been the most common type of cancer observed in Korean women. Due to improved screening and treatment, multiple primary cancer (MPC) in association with breast cancer has been more prevalent. However, there is a lack of information regarding MPC in Korea. Therefore, this study was conducted to provide an overview of the clinical characteristics of MPC that occurs in association with breast cancer. METHODS: We retrospectively investigated 149 patients with MPC, including breast cancer patients, who were treated between July 1989 and December 2005 at the Breast clinic in Asan Medical Center. Patients with contra-lateral breast cancer as well as patients that experienced a recurrence of breast cancer were excluded from this study. We studied the clinical characteristics of patients including the mean age, stage of disease, hormone receptor status, cause of death, common cancers that were combined with breast cancer, the time interval between the onset of breast cancer and other cancers, and mean survival. We considered the cancer to be synchronous if a second cancer has been diagnosed at least six months before the diagnosis of an initial primary cancer, however, other forms of cancer were considered to be metachronous. RESULTS: Of 149 patients, 146 patients were female (98.0%) and 3 were male (2.0%). The mean age of the study group was 51.5, which is higher than the mean age of 47.3 that was observed in breast cancer patients at our hospital during the same period (p<0.001). Forty-four of the patients evaluated in this study had synchronous cases of cancer, whereas the remaining 88 patients had metachronous MPC. In metachronous cancers, the average time between diagnosis with the primary cancer and the secondary cancer was 5.2 yr. The most common cancer found to be combined with breast cancer included cancer of the thyroid (45, 29.2%), cervix and uterus (28, 18.2%), stomach (19, 12.3%), colon and rectum (15, 9.7%), ovary (11, 7.1%) and lung (9, 5.8%). CONCLUSION: Thyroid cancer is the cancer most commonly associated with breast cancer, and the mean age of MPC patients was higher than that of patients who only had breast cancer. Due to the improved survival length and treatment, MPC associated with breast cancer is now a greater concern.
Breast Neoplasms* ; Breast* ; Cause of Death ; Cervix Uteri ; Chungcheongnam-do ; Colon ; Diagnosis ; Female ; Humans ; Korea ; Lung ; Male ; Mass Screening ; Neoplasms, Second Primary ; Ovary ; Rectum ; Recurrence ; Retrospective Studies ; Stomach ; Thyroid Neoplasms ; Uterus