Large cell neuroendocrine carcinoma (LCNEC) of the lung is a newly recognized entity of pulmonary neuroendocrine carcinoma. Histologically, it is very difficult to differentiate LCNEC from other pulmonary carcinomas and the prognosis is significantly poor. The cutaneous metastasis of LCNEC of the lung shares some features with Merkel cell carcinoma of the skin in light microscopy and yet it is negatively stained with cytokeratin 20. We report a case of cutaneous metastasis of LCNEC of the lung, previously misdiagnosed as squamous cell carcinoma. Our patient showed a poor response to the chemotherapy and also revealed a brain metastasis on follow-up brain CT scan.
Brain ; Carcinoma, Merkel Cell* ; Carcinoma, Neuroendocrine* ; Carcinoma, Squamous Cell ; Drug Therapy ; Follow-Up Studies ; Humans ; Keratin-20 ; Lung* ; Microscopy ; Neoplasm Metastasis ; Prognosis ; Skin ; Tomography, X-Ray Computed

No abstract available.
Breast* ; Child* ; Humans

Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requires the study of another ethnic group, especially Asian population for the confirmation. This study was an anlysis of restriction fragment length polymorphism of the Wilson's disease with the probes on D13S26, D13S31, and D13S59, The subject was 34 persons of seven families. The serum ceruloplasmin and the serum copper were also measured. The results were as follows: 1) The Wilson disease gene was also presumed to be located in chromosome 13q area in Korean patients and D13S25, D13S26, D13S31 and D13S59 gene loci were also linked to Wilson disease of Koreans. The lod score of D13S25 was 1.45 (theta =0: D13S59, 1.13 (theta =0): D13S26, 247 (theta =0). 2) Three siblings of Wilson disease patients were diagnosed as carriers by the analysis of restriction fragment length polymorphism. 3) In Wilson disease patients, the serum ceruloplasmin and copper was 6.8+/1.8dl, and 64.7+/-38.6microg/dl respectively and it is 18.8+/-6.1 mg/dl and 65.3+/-10.6microg/dl respectively in heterozygotes.
Asian Continental Ancestry Group ; Ceruloplasmin ; Copper ; Ethnic Groups ; Europe ; Genetic Linkage* ; Hepatolenticular Degeneration* ; Heterozygote ; Humans ; Lod Score ; Middle East ; North America ; Polymorphism, Restriction Fragment Length ; Siblings

BACKGROUND: The efficacy of tumescent liposuction in the treatment of axillary osmidrosis has been widely established. But there have been few studies that have conducted a comparative analysis according to the level of dermal curettage with respect to the efficacy and safety. OBJECTIVE: The aim of this study was to evaluate the clinical efficacy and complications of tumescent liposuction according to the degree of dermal curettage. METHODS: From September 2004 through August 2009, a total of 33 patients with axillary osmidrosis (66 axillae) were included in this study. Twelve patients (24 axillae) were treated by tumescent liposuction with dermal curettage at the level of the mid-dermis (the classical technique group), and the other 21 patients (42 axillae) were treated by tumescent liposuction with dermal curettage at the level of the dermo-subcutis junction (the modified technique group). The preoperative and postoperative disease severity was measured as 0, 1, 2 and 3. The improvement of symptoms was graded by the patient as excellent, good, fair and poor. We also evaluated the postoperative complications, including skin necrosis, scar, hematoma, sensory disturbance and infection. Biopsies of the axillary skin were performed in 7 patients to confirm the level of dermal curettage and the reduction of apocrine glands after treatment. RESULTS: The follow-up ranged from 6 to 60 months. Six months after treatment, 95.8% (23/24) of the axillae in the classical technique group and 95.2% (40/42) of the axillae in the modified technique group had reduced disease severity below 1. Among the 12 patients treated with the classical technique, 11 (91.7%) had excellent to good results, while 95.2% (20/21) of the patients treated with the modified technique had excellent to good results by the patients' own grading. The complications included skin necrosis, scar and hematoma. In the classical technique group and the modified technique group, the incidence of skin necrosis was 12.5% (3/24) and 2.4% (1/42), respectively, the incidence of scar formation was 4.2% (1/24) and 0%, respectively, and the incidence of hematoma was 8.3% (2/24) and 0%, respectively. The postoperative histologic examinations confirmed that the dermal curettage level was at the mid-dermis in the classical technique and at the dermo-subcutis junction in the modified technique. Interestingly, the histologic examination from the classical technique group revealed vacuolar alteration of keratinocytes and partial separation of the dermo-epidermal junction. CONCLUSION: The efficacy of the modified technique is compatible with that of the classical technique, but the modified technique offers fewer complications. So, the modified technique may improve the cosmetic outcome without reducing the treatment efficacy for the patient with axillary osmidrosis.
Apocrine Glands ; Axilla ; Biopsy ; Cicatrix ; Cosmetics ; Curettage ; Follow-Up Studies ; Hematoma ; Humans ; Incidence ; Keratinocytes ; Lipectomy ; Necrosis ; Postoperative Complications ; Skin ; Treatment Outcome

We investigate the serial change of the bone density of the lengthening sites in distraction osteogenesis in long bone lengthening of the lower extremity by measuring the pixel value of the PACS(Picture Archiving Communication System). The purpose of this study was to find the clinical implication of the pixel value in PACS in the distraction osteogenesis. The number of the distraction sites were 22 in tibia and 16 in femur. The average distraction length was 4.5cm ranged between 2.1cm and 7.0cm in femur, 4.1cm ranged hetween 1.9cm and 6.8cm in tibia. When the image were sent to the PACS workstations, they were directly interfaced to the workstation without any processing. The absolute and the relati ve pixel values of cortical bones of the original and the lengthening sites repr sented in workstation of PACS were obtained by average value measuring 3 times by 3 different persons. The average absoiute pixel value of the original cortical bone near distraction site was not significantly changed, maintaining 575+/-6 in femur, and 570+/-7 in tibia. The absolute pixel vaIues in AP and lateral view were not significantly changed until 6 week/cm, but rapidly increased after 7 week/cm hoth in the tibia and the femur. The relative pixel value of the lengthening sites were more than 95% in three of the four cortices at the time of the removal of the external fixators. in conclusion, the pixel value of the PACS can be a rapid, simple and easy method for detection of the change of the bone density in distraction osteogenesis.
Bone Density* ; Bone Lengthening* ; External Fixators ; Femur ; Humans ; Lower Extremity* ; Osteogenesis, Distraction* ; Tibia

Diffuse neonatal hemangiomatosis is a fatal disorder characterired by multiple cutaneous and visceral hemangiomas. The organs most commonly affected are the gastrointestinal tract, brain, liver and lung. The complications are high output cardiac failure, gastrointestinal bleeding and hydrocephalus. We present a patient with diHuse neonatal hemangiomatosis associated with massive hepatic involvement and high output cardiac failure, which was successfully treated with high dose corticosteroid.
Brain ; Gastrointestinal Tract ; Heart Failure ; Hemangioma ; Hemorrhage ; Humans ; Hydrocephalus ; Liver ; Lung

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper transport and characterized by degenerative changes in the brain, liver dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. Since the identification of Wilson disease gene (ATP7B), more than 80 mutations have been detected among the different ethnic groups. METHODS: Twenty three children with Wilson disease were included in this study. They were all diagnosed by low serum ceruloplasmin and increased 24 hour urinary copper excretion with characteristic clinical findings. We analysed WD gene mutation by assessing the nucleotide sequence of exon 7, 8, 9 and 10 including intron-exon boundaries of ATP7B gene from genomic DNA. RESULTS: Arg778Leu mutation was identified in 16 WD patients; three were homozygous and 13 were heterozygous for this mutation. Of the 46 alleles, 19 alleles had a Arg778Leu mutation (19/46=41%). Homozygote patients had neurologic forms of WD. Arg778Leu mutation was not found among 50 normal healthy persons. CONCLUSION: Arg778Leu mutation is a common mutation in Korean WD gene. Arg778Leu mutation screening might be used as a useful supplementary diagnostic test in some patients to confirm Wilson disease in Korea.
Alleles ; Base Sequence ; Brain ; Ceruloplasmin ; Child* ; Copper ; Diagnostic Tests, Routine ; DNA ; Ethnic Groups ; Exons ; Hepatolenticular Degeneration* ; Homozygote ; Humans ; Korea ; Liver Diseases ; Mass Screening

No abstract available.
Caroli Disease*

BACKGROUND: As co-factors of metalloenzymes, zinc(Zn) and copper(Cu) have a considerable effect on nearly all the metabolism that takes place in organs of the body, including the skin. OBJECTIVE: The purpose of this study was to evaluate zinc and copper status in alopecia areata patients. METHODS: We measured serum levels of zinc and copper in 30 cases of alopecia areata patients and 10 normal individuals by atomic absorption spectrometry. Furthermore, we studied the significance of the ratio between serum levels of the two metals. RESULTS: The serum levels of zinc were significantly lower in alopecia areata patients than in healthy controls. The serum levels of copper were slightly lower in alopecia areata patients than in healthy controls. Ratios of Cu/Zn were slightly higher in alopecia areata patients than in healthy controls. But their differences were not statistically significant. CONCLUSION: We suggest that a serum Zn assay should be included in the chemical assessment of patients with alopecia areata.
Absorption ; Alopecia Areata* ; Alopecia* ; Copper* ; Humans ; Metabolism ; Metals ; Skin ; Spectrum Analysis ; Zinc*

Fracture of the carpal scaphoid bone is the most common fracture of the carpus. Unfortunately, nonunion are common since the symptoms do not alert patents to seek early medical treatment and the diagnosis is easily missed. Fracture of the scaphoid is a common condition whose management remains controversial. The conservative treatment has many complications, these include inability to word while in plaster, stiffness of the wrist afterwards, muscle wasting, weakness and malunion. So various operative treatments of scaphoid fracture have been developed. Open reduction by use of screws suggested by Maclaughlin first in 1954. In 1984 a new and simple operative technique has been developed to provide rigid internal fixation for all types of fractures of the scaphoid by T.J. Herbert. This involves the use of a double-treaded bone screw which provides good fixation that, after operation, a plaster cast in rarely required and most patients are able to return to work within a few weeks. Authors have experienced 10 cases of scaphoid fracture and accomplished good result in all cases by internal fixation using Herbert screw. The results are as follows Of these 10 fractures, 2 were fresh fractures and 8 were nonunions of scaphoid fracture. In nonunion cases, the time interval between fracture and operation was from 5 months to 5 years. The postoperative immobilization period was average of 4 weeks. Short period of immobilization achieved early functional recovery of the wrist. The bony unions in roentgenogram were seen from 3 months to 9 months after operation. In 2 cases the fracture gap was seen after 9 months. But in these cases the symptoms such as pain and range of motion of wrist were improved.
Bone Screws ; Casts, Surgical ; Diagnosis ; Humans ; Immobilization ; Range of Motion, Articular ; Return to Work ; Scaphoid Bone ; Wrist