No abstract available.
Bardet-Biedl Syndrome ; Humans ; Retinitis Pigmentosa ; Retinitis

5-Fluorouracil (5-FU) based chemotherapy has been commonly used to treat metastatic or advanced colon cancer as an adjuvant chemotherapy. Although the side effects of 5-FU such as gastrointestinal problems and neutropenia and thrombocytopenia are common, not many cases of 5-FU related encephalopathy are reported. Hyperammonemic encephalopathy is a rare central nervous system toxicity following 5-FU chemotherapy manifesting as altered mental status with elevated ammonia levels with no radiologic abnormality. We report one case of 5-FU induced hyperammonemic encephalopathy occurring after Folfox4 (oxaliplatin, folinic acid and 5-fluorouracil) chemotherapy in a colon cancer patient who presented with confused mental status soon after the chemotherapy and review the 5-FU related encephalopathy.
Ammonia ; Brain Diseases, Metabolic ; Central Nervous System ; Chemotherapy, Adjuvant ; Colonic Neoplasms ; Drug Therapy* ; Fluorouracil* ; Humans ; Hyperammonemia ; Leucovorin ; Neutropenia ; Thrombocytopenia

PURPOSE: The assurance of a negative resection margin is significant in rectal cancer as it indicates a reduced risk of local recurrence; thus, sufficient length of the resection margin is strongly required. The purpose of this study was to analyze the relationship between the length of the distal resection margin (DRM) and local recurrence or survival rate and to evaluate the possibility of performing sphincter-conserving surgery. METHODS: The medical records of 218 rectal cancer patients were analyzed. Patients were classified into three groups according to the length of the DRM as follows: group 1, DRM < 1 cm; group 2, 1 cm < or = DRM < or = 2 cm; and group 3, DRM > 2 cm. RESULTS: Of 218 patients enrolled, 81 were in group 1, 66 in group 2, and 71 in group 3. The 5-year survival rates were 78.2%, 78.2%, and 76.8% for groups 1, 2, and 3, respectively, and there were no statistically significant differences in survival (P = 0.913). Local recurrence was found in 2 patients in group 1, 1 patient in group 2, and 1 patient in group 3; there were no statistically significant differences in local recurrence (P = 0.908). CONCLUSION: A DRM of < 1 cm did not impair the oncologic outcomes of rectal cancer patients. Our results indicated that surgeons should keep in mind to consider the option of sphincter-conserving surgery with adjuvant chemoradiotherapy even in very low rectal cancer.
Chemoradiotherapy, Adjuvant ; Humans ; Medical Records ; Neoplasm Recurrence, Local ; Rectal Neoplasms* ; Recurrence ; Retrospective Studies* ; Survival Rate

PURPOSE: Lymph-node metastasis is considered as critical prognostic factor in colorectal cancer. A preoperative evaluation of lymph-node metastasis can also help to determine the range of distant lymph node dissection. However, the reliability of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) in the detection of lymph-node metastasis is not fully known. METHODS: The medical records of 433 patients diagnosed with colorectal cancer were reviewed retrospectively. FDG-PET/CT and CT were performed on all patients. Lymph nodes were classified into regional and distant lymph nodes according to the American Joint Committee on Cancer (AJCC) Cancer Staging Manual, 7th edition. RESULTS: The patients included 231 males (53.3%) and 202 females (46.7%), with a mean age of 64.7 +/- 19.0 years. For regional lymph nodes, the sensitivity of FDG-PET/CT was lower than that of CT (57.1% vs. 73.5%, P < 0.001). For distant lymph nodes, the sensitivity of FDG-PET/CT was higher than that of CT (64.7% vs. 52.9%, P = 0.012). The sensitivity of FDG-PET/CT for regional lymph nodes was higher in patients with larger primary tumors. The positivity of lymph-node metastasis for FDG-PET/CT was affected by carcinoembryonic antigen levels, tumor location, and cancer stage for regional lymph nodes and by age and cancer stage for distant lymph nodes (P < 0.05). CONCLUSION: The sensitivity of FDG-PET/CT for regional lymph-node metastasis was not superior to that of CT. However, FDG-PET/CT provides helpful information for determining surgical plan especially in high risk patients group.
Carcinoembryonic Antigen ; Colorectal Neoplasms* ; Electrons* ; Female ; Humans ; Joints ; Lymph Node Excision ; Lymph Nodes ; Male ; Medical Records ; Neoplasm Metastasis ; Neoplasm Staging ; Positron-Emission Tomography ; Retrospective Studies

Mycobacterium marinum is an atypical mycobacterium (ATM) and is an uncommon cause of skin and soft tissue infections associated with contact with contaminated water. Diagnosis is often delayed when only a conventional identification method is used. PCR amplification and direct sequencing is recently available method for rapid identification of ATM. We report a case of M. marinum infection identified by PCR and sequencing. A 56-year-old female was referred for multiple erythematous nodules on both forearms which appeared two months ago. Skin biopsy showed suppurative granulomatous inflammation, and AFB culture showed nontuberculous Mycobacteria. PCR and sequencing were performed, and the obtained sequences were compared to the database using BLAST. The sequences of 16S rRNA and rpoB could not differentiate between M. marinum and M. ulcerans, showing 100% homology to both. Identification was possible using the sequences of the tuf and hsp65 genes, showing both 100% homology to M. marinum, while 99.8%, 99.7% to M. ulcerans. The patient was treated with clarithromycin, rifampicin, and ethambutol for 6 months.
Biopsy ; Clarithromycin ; Ethambutol ; Female ; Forearm ; Humans ; Inflammation ; Middle Aged ; Mycobacterium ; Mycobacterium Infections, Nontuberculous ; Mycobacterium marinum ; Nontuberculous Mycobacteria ; Polymerase Chain Reaction ; Rifampin ; Skin ; Soft Tissue Infections

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.
Child ; Foot ; Gait ; Gastrectomy ; Hand ; Heterozygote ; Humans ; Muscle Spasticity ; Paresthesia ; Peripheral Nervous System Diseases ; Porphyrins ; Pyramidal Tracts ; Sensation ; Spastic Paraplegia, Hereditary ; Subacute Combined Degeneration ; Vibration ; Vitamin B 12

A 63-year-old woman was referred to a breast surgeon with a breast mass discovered incidentally during follow-up study after colon cancer surgery. Invasive adenocarcinoma was revealed on core needle biopsy. Wide excision of the breast including the tumor was performed. On standard histological examination the tumor showed features of moderately differentiated adenocarcinoma. The immunohistochemistry study revealed positive results for cytokeratin (CK)20 and CDX2, but negative for CK7. These are typical characteristics for colon cancer. Considering her history of subtotal colectomy for sigmoid colon cancer, it is presumable that the mass in the breast was of colonic origin, and it was an extremely rare case of metastasis to the breast from primary colorectal neoplasm. Although the instance is rare, clinicians should keep the possibility of breast metastasis from colorectal cancer in mind for early and correct diagnosis.
Adenocarcinoma ; Biopsy, Large-Core Needle ; Breast ; Colectomy ; Colon ; Colonic Neoplasms ; Colorectal Neoplasms ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Keratins ; Middle Aged ; Neoplasm Metastasis ; Sigmoid Neoplasms

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasm of the gastrointestinal tract. They are preferentially located in the stomach and small intestine. However, the duodenum is an unusual location for GIST. Here we present a case of a 67-year-old woman with a GIST of the 3rd portion of duodenum mimicking vascular neoplasm as an obscure acute gastrointestinal bleeding. The upper gastrointestinal endoscopy and colonoscopy failed to find the lesion. Finally, a large protruded lesion with ulcer was found at the 3rd portion of duodenum using a colonoscope through the oral approach. A spurting bleeding was developed during hypertonic saline epinephrine injection for treatment of oozing bleeding at the margin of the ulcer. Abdominal 3D CT-angiography showed a round and hypervascular structure at the posterior wall of duodenum. A wedge resection of the third portion of the duodenum was performed. Microscopic findings revealed GIST.
Aged ; Colonoscopes ; Colonoscopy ; Duodenum ; Endoscopy, Gastrointestinal ; Epinephrine ; Female ; Gastrointestinal Stromal Tumors ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Intestine, Small ; Stomach ; Ulcer ; Vascular Neoplasms

OBJECTIVE: This study investigated the effects of the balanced incline shoes on the stabilized walking, fatigue reduction, improvement of blood circulation and prevention of foot related disease for the pregnant women. METHODS: The seven 7~9 month pregnant women and three maternities within 3 months after delivery without a history of disease performed the cycles for each of the two walking conditions: wearing balanced incline shoes and flat shoes. The differences between the two walking conditions were statistically investigated including three dimensional motion analysis, footprint pressures and blood flow. To find out any possible difference between these two kinds and among the subjects, the statistical tool was utilized with one-way layout design. RESULTS: Of 10 subjects, seven subjects showed the significantly decreased in distance of both knee with balanced incline shoes than flat shoes (P<0.05). Those with the balanced incline shoes had a walking pattern whose knee moved inward about 6 mm, compared to those with the flat regular ones. Over plantar pressure measurements for all ten, it also revealed statistically significant differences that the balanced incline shoes decreased its pressure 15% and that the pressure heavily on heel area was distributed outward along the arch (P<0.05). The blood stream velocity belonged to C (200~300 microm/sec) or D (100~200 microm/sec) for the nine before wearing the balanced incline shoes. However, it was found to be enhanced in A (>600 microm/sec) or B (400~600 microm/sec) after they put them on, indicating 1~2 part equivalent improvement. The blood stream velocity showed a incremental tendency after wearing balanced incline shoes. CONCLUSION: This result suggests that the balanced incline shoes corrected the postures, stabilized the gait pattern, decreased the excessive load on ankle plantar flexors, reduced the fatigue level and improved the blood circulation.
Animals ; Ankle ; Blood Circulation ; Fatigue ; Female ; Foot ; Gait ; Heel ; Humans ; Knee ; Posture ; Pregnant Women ; Rivers ; Shoes ; Walking

The Scleroderma is a chronic inflammatory disease of the connective tissue with involvement of the skin and other organs. It can be a manifestation of various disorders and occasionally acroosteolysis in the phalanges. Acroosteolysis is characterized by bone resorption or destruction in the phalanges, while the base is preserved. The pathogenesis of acroosteolysis in patients with scleroderma is a blood-flow disorder that is mainly associated with an abnormal accumulation of collagen in all tissues, microangiopathy and infections in the phalanges. The phalanges in patients with scleroderma are prone to continuous infections as a felon or skin ulcers due to atrophy of the subcutaneous tissue, dry and sclerotic skin, or a disorder of the immune system. We experienced a patient who had acroosteolysis with scleroderma of the phalanges, and this was associated with a felon. We report on this case along with a brief review of the literature.
Acro-Osteolysis ; Atrophy ; Bone Resorption ; Collagen ; Connective Tissue ; Humans ; Immune System ; Skin ; Skin Ulcer ; Subcutaneous Tissue