Hereditary anhidrotic ectodermal dysplasia is a rare condition characterized by underdeveloped ectodermal structure including the skin, teeth or skin appendages. The patient has characteristic feature of anhidrosis, hypotrichosis and defective dentition. We experienced a case of hereditary anhidrotic ectodermal dysplasia in a l-month-old male infant who had unexplained recurring fever, anhidrosis and characteristic facial feature, so we established the diagnosis with clinical feature and skin biopsy.
Biopsy ; Dentition ; Diagnosis ; Ectoderm ; Ectodermal Dysplasia* ; Fever ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Male ; Skin ; Tooth

MAGE (melanoma antigen gene) is a tumor specific shared antigen, presented by HLA class I molecules, which is recognized by cytotoxic T lymphocytes. MAGE proteins are expressed in malignant tumor cells, in contrast to no expression in normal or benign tissues except for testis and placenta. MAGE might be a potential target for immunotherapy of malignant tumors. However, its biological aspects associated with cell cycle are not yet described. The flow cytometry is a useful tool for objective and quantitative analyses of heterogenous tumor cell population. To understand the status of MAGE related to cell cycle and its relationship with p53 as the G1 checkpoint regulator, p21, and PCNA as a proliferative index, we investigated expression of MAGE-3 protein, mutant p53, p21, and PCNA by flow cytometry and immunohistochemical stain. In addition, double stains for MAGE-3/p53, p53/PCNA, and p53/p21 were analysed with bivariate flow cytometry. DNA histograms using MAGE-3/PI (DNA) and p53/PI (DNA) were also analysed. The cell line (PNUH- 12) used for this study originated from a hypopharyngeal squamous cell carcinoma, which has point mutation (exon 7, C-->G) of p53. The expression rate of MAGE-3 was 83%, PCNA 85%, and p53 81%. No expression for p21 was identified. MAGE-3 was expressed in cytoplasm, while both PCNA and p53 were expressed in nuclei of tumor cells. With bivariate analyses, coexpression rates of MAGE-3/p53 and p53/PCNA were 0.96 and 0.97, respectively. Both MAGE-3 and p53 showed constantly high level throughout the cell cycle. These results suggest that expression of MAGE-3 and mutant p53 is not dependent on the cell cycle. p21 seems to be inactivated.
Carcinoma, Squamous Cell* ; Cell Cycle ; Cell Line* ; Coloring Agents ; Cytoplasm ; DNA ; Flow Cytometry* ; Immunotherapy ; Mutant Proteins ; Placenta ; Point Mutation ; Proliferating Cell Nuclear Antigen* ; T-Lymphocytes, Cytotoxic ; Testis

Autonomic dysreflexia is a syndrome characterized by severe hypertension, headache, sweating that is seen in spinal cord injury population. It can be a life-threatening problem if not promptly recognized and treated. Since the most common cause is bladder distention, it is essential that the urologist sh6fild be familiar with this syndrome. Two hundred ninety four patients with spinal cord injury were reviewed for the prevalence rate and clinical manifestations of autonomic dysreflexia. The time of onset post-injury, precipitating causes, presenting symptoms and management were analyzed. 42 patients (34.4%) of 122 patients with lesion above T6 level exhibited autonomic dysreflexia. The majority of patients (61.9%) had manifested signs and symptoms of autonomic dysreflexia within the first year. The precipitating causes were bladder distention (69.0%), bowel distention (23.8%) and urinary tract infection (7.1%). The presenting symptoms of autonomic dysreflexia were headache (88.1%), sweating (88.1%), hot flushing (28.6%), chest discomfort, hyperpnea and spasm. The management of autonomic dysreflexia include prompt bladder erupting, bed rest and appropriate bowel preparation. In conclusion, prompt recognition and appropriate management of autonomic dysreflexia are essential to prevent life-threatening sequelae.
Autonomic Dysreflexia* ; Bed Rest ; Flushing ; Headache ; Humans ; Hypertension ; Prevalence ; Spasm ; Spinal Cord Injuries* ; Spinal Cord* ; Sweat ; Sweating ; Thorax ; Urinary Bladder ; Urinary Tract Infections

Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.
Adipose Tissue ; Atrophy ; Biopsy ; Female ; Focal Dermal Hypoplasia* ; Genetic Diseases, Inborn ; Hernia ; Humans ; Infant, Newborn ; Microphthalmos ; Skin ; Syndactyly ; Urinary Tract

No abstract available.
Electroconvulsive Therapy* ; Prolactin*

No abstract available.
Anesthesia, Epidural*

OBJECTIVE: To evaluate the effect of chin tuck maneuver on aspiration and pharyngeal residue using both videofluoroscopic swallowing study (VFSS) and fiberoptic endoscopic evaluation of swallowing (FEES). METHOD: Subjects with dysphagia were trained by occupational therapists for chin tuck maneuver at least for a week. After training, all participants underwent VFSS and FEES simultaneously with each neutral and chin tuck posture with various tests diets. The modified penetration-aspiration scale (mPAS) and a new scale for pharyngeal residue were used for evaluation of aspiration and pharyngeal residue. RESULT: A total of 35 patients (mean age, 64.2±12.1 years) were included. A significant change in the mPAS was caused by chin tuck posture in thin liquid (P=0.02) only in the VFSS evaluation. The vallecular residues were decreased by chin tuck posture in rice porridge (right, P=0.01; left, P=0.009), and thin liquid (right, P=0.007; left, P=0.01). The pyriform sinus residues were also decreased by chin tuck posture in rice porridge (right: P=0.02; left: P=0.03), curd-type yogurt (right, P=0.02; left, P=0.005), and thin liquid (right, P=0.001; left, P=0.003). CONCLUSION: Chin tuck maneuver is effective in preventing penetration or aspiration and in decreasing pharyngeal residues when evaluated by simultaneous VFSS and FEES.
Chin* ; Deglutition Disorders ; Deglutition* ; Diet ; Endoscopy ; Fees and Charges ; Fluoroscopy ; Humans ; Methods ; Posture ; Pyriform Sinus ; Yogurt

No abstract available.
Carcinoma, Basal Cell ; Nose

This study investigated the effects of soyoligosaccharide consumption on lipid profile of plasma, liver and feces and immune responses in Sprague-Dawley male rats. Sixty male Sprague-Dawley rats 4-wk-old were provided the soyoligosaccharide containing diets for 4 weeks (0, 100 g/kg diet); each of these diets was supplemented with either 70 or 200 g fat/kg diet, giving a total of 4 experimental groups. The effect of weight reduction was most significantly observed in the group fed low fat and soyoligosacchairde diet. The plasma total lipid and cholesterol contents were not changed by either fat proportion or soyoligosaccharide supplementation in the diets. Also the plasma triglyceride lowering effect by soyoligosaccharide was not observed in rats fed either low fat or high fat diet. However, the significant decrease in TG contents was found with rats fed high fat diets compared to the control/no soyoligosaccharide diet. Elevation of plasma LDL-cholesterol and reduction of HDL-cholesterol by feeding high fat diet was not altered by supplementing soyoligosaccharide. This was also applied to the liver lipid profiles. The significant increases in liver total lipid, triglycerides and cholesterol by high fat diet was not abolished by feeding soyoligosaccharide. However, the desirable effects of feeding soyoligosaccharide were found with total lipid and cholesterol excretion through feces in rats fed high fat diets. Immune organ weights and spleen cell proliferations did not affected by experimental diets. These results demonstrated that soyoligosaccharide intakes increased the lipid output via feces, especially in rats fed the high fat diet, but more researches are needed on immune responses.
Animals ; Cholesterol ; Diet* ; Diet, High-Fat ; Feces ; Humans ; Lipid Metabolism* ; Liver ; Male ; Organ Size ; Plasma ; Rats* ; Rats, Sprague-Dawley ; Spleen ; Triglycerides ; Weight Loss

A cherry hemangioma is a type of capillary hemangioma that commonly occurs in older adults. Despite its benign nature, treatment is often required for cosmetically unacceptable lesions, and therapeutic options include electrocoagulation, sclerotherapy, cryotherapy, or laser therapy. Laser therapy using a V-beam and long-pulsed neodymium-doped yttrium aluminum garnet laser has shown favorable outcomes in patients with hemangiomas. We report two cases of cherry hemangiomas treated with the ‘Pharaon LipoⓇ laser’, an advanced and powerful diode laser that is not commonly used for hemangiomas but is selected for lipolysis and varicose vein coagulation. A 64-year-old German man presented with a several-decade history of multiple erythematous maculopapules on his chest, and a 30-year-old Korean man presented with a one-year history of similar lesions on his abdomen. Histopathological evaluation of biopsy specimens confirmed diagnosis of cherry hemangiomas. We successfully treated these lesions using the Pharaon Lipo Ⓡlaser without any adverse effect.