No abstract available.
Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Vitiligo*

No abstract available.
Hysterectomy*

This study was aimed to assess the free calcium status with or without its direct measurement in patients on hemodialysis(HD: n=27) and malnourished ones from extrarenal diseases(MN: n=14). It was performed by the comparison of measured free calcium (Ca++m) levels by gas analyzer and calculated free calcium(Ca++c) levels based on those of total calcium (TCa), albumin, and pH with the modified algorithm invented by Moore(J Clin Invest. 49:318, 1970). Of 27 HD pts, 14(5296) had low[Ca++m] below 1.05mmol/L despite only 2(796) with low [TCa] below 2.05mmoV L, whereas 14 MN pts had similar numbers between low[Ca++m] and low[TCa]. Compared to MN pts, HD pts showed significantly lower mean levels(SE) of pH(7.37 0.01 vs. 7A4 0.01, p<0.01), higher[TCa](2.33 0.04 vs. 1.83 0.08mmol/L, p<0.01), and higher albumin (4.33 0.06 vs. 2.59 0.17mg/dL, p<0.01).However, [Ca++m] between 2 groups did not reveal any significant difference. Furtherrnore, in total 41 pts of 2 groups, no similarity was observed between the values of [Ca++ml and [Ca++c] but with their significant difference(p<0.05). Only[TCa] was significantly corre- lated with albumin level(r=0.73, p<0.01). Furthermore, multiple regression analysis between [Ca++m] and other factors including pH and albumin didn't show any correlation. In conclusion, this data suggests that relatively high prevalence of low values of physiologically important free ionized calcium in chronically ill pts, especially on maintenance HD, could be missed when predicted on total calcium level, and pH without its direct measurement.
Calcium* ; Chronic Disease* ; Humans ; Hydrogen-Ion Concentration* ; Prevalence

No abstract available.
Angiomyoma

PURPOSE: Liposarcoma is the most common soft tissue sarcoma, and usually occurs on the thigh or in the retroperitoneal space, but rarely in the oral region. This report presents a case of liposarcoma of the cheek and includes a review of the literatures. METHODS: A 21-year-old woman was admitted with a palpable mass in her cheek of about two years duration, which increased in size gradually initially, but had increased rapidly over the three months. There was no particular pain or tenderness. MRI showed a well-enhanced, well-defined mass, which suspected to be hemangioma. RESULTS: The spherical, well-encapsulated mass was surgically excised. Biopsy results revealed myxoid liposarcoma. FDG PET-CT on the seventh postoperative day, revealed a minimal to mild FDG-uptake soft tissue lesion around the mass defect area without evidence of distant metastasis. The patient is being observed and undergoing radiation therapy. CONCLUSION: Liposarcoma in the head and neck region is a rare disease, and can be overlooked as a benign tumor without a pathologic diagnosis. Therefore, proper treatment and follow-up are required based on an understanding of this disease.
Biopsy ; Cheek ; Female ; Follow-Up Studies ; Head ; Humans ; Liposarcoma ; Liposarcoma, Myxoid ; Neck ; Neoplasm Metastasis ; Rare Diseases ; Retroperitoneal Space ; Sarcoma ; Thigh ; Young Adult

OBJECTIVE: The purpose of this investigation was to establish the prenatal diagnosis for identifying the risk for epidermolytic palmoplantar keratoderma(EPPK) of a fetus by sequence analysis of fetal genomic DNA from chorionic villi. METHODS: Chorionic villus sampling under transvaginal sonography at 12 weeks of gestation from a woman at risk for a child in a EPPK-affected family was perfomed. Polymerase chain reaction amplification of specific allele (PASA) assay was carried out for the detection of mutation(R162W in keratin 9 [K9] gene) previously identified in this family. Direct DNA sequencing analysis of K9 gene was accomplished to confirm the mutation. RESULTS: We had found the point mutation, R162W of K9 gene, in affected family members and confirmed by PASA assay. Affected family members were shown to have PCR products reactive with both the mutant and wildtype specific primers. Because we could not find any expected products after PASA assay with the primers la(+)/KSmt(-) of the fetal DNA, we predicted that the fetus did not inherited the mutant allele and that the fetus could be unaffected. After PASA assay, we analyzed DNA sequences of two family members to confirm the mutation. A C-to-T substitution at bp 545 was detected in the father, instead the fetus did not have any mutant band at that base pair. CONCLUSION: The PASA assay and direct DNA sequencing analysis of K9 gene through chorionic villi sampling and extraction of genomic DNA had validity to early prenatal diagnosis whether fetus was affected in EPPK or not.
Alleles ; Base Pairing ; Base Sequence ; Child ; Chorionic Villi ; Chorionic Villi Sampling ; DNA* ; Fathers ; Female ; Fetus ; Humans ; Keratin-9 ; Keratoderma, Palmoplantar, Epidermolytic* ; Point Mutation ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis* ; Sequence Analysis ; Sequence Analysis, DNA

Further understanding of male human papillomavirus (HPV) infection is necessary to prevent infection in men, as well as transmission to women. In our current study, we investigated patterns of HPV infection and genotype distributions in male genital warts using the Anyplex II HPV28 Detection kit. We reviewed the medical records of 80 male patients who presented to 5 neighborhood clinics in Ulsan, Korea, for the treatment of genital warts between April 2014 and January 2015. All patients underwent HPV genotyping. The prevalence and characteristics of HPV infection were analyzed, and the patterns of HPV infection according to age were assessed. Among the study patients, 13 (16.3%) were negative for HPV infection, 46 (57.3%) were infected with low-risk HPV, and 21 (26.3%) were infected with high-risk HPV. Patients with multiple HPV infection were more likely to have high-risk HPV infection (P = 0.001). The prevalence of HPV infection was much higher in samples obtained by tissue excision due to a definite lesion (P = 0.001). There were no differences in high-risk HPV infection (P = 0.459), multiple HPV infection (P = 0.185), and recurrence at diagnosis (P = 0.178) according to age. HPV-6 and HPV-11 were the most common type overall (39.7% and 13.8%, respectively). HPV-16 and HPV-18 were the most common high-risk infections (both 3.4%). HPV infection is not only commonly encountered in male genital warts, but is also accompanied by high-risk HPV and multiple infections.
Adult ; Condylomata Acuminata/epidemiology/*pathology/virology ; DNA, Viral/genetics/metabolism ; Genotype ; Human papillomavirus 11/*genetics/isolation & purification ; Human papillomavirus 16/genetics/isolation & purification ; Human papillomavirus 18/genetics/isolation & purification ; Human papillomavirus 6/*genetics/isolation & purification ; Humans ; Male ; Middle Aged ; Prevalence ; Real-Time Polymerase Chain Reaction ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors

BACKGROUND: Von Recklinghausen disease or neurofibromatosis type 1 is an autosomal dominant genetic disorder of chromosome 17q11.2. The most common characteristic findings of NF 1 include multiple and recurrent cutaneous neurofibromas associated with psychosocial distress. METHODS: Sixteen patients (9 female, 7 male; average age, 31 years; range, 16 to 67 years) with multiple cutaneous neurofibromas between March 2010 and February 2012 were included in the study. All patients were treated with radiosurgical ablation and excision under general anesthesia. RESULTS: All 16 patients were satisfied with the results, when questioned directly during the outpatient department follow-up. The only complaint from a few patients was minimal scarring, but acceptable results were obtained in the end. CONCLUSIONS: The radiofrequency procedure is almost bloodless and quick, creating a smaller necrotizing zone. Therefore, instead of employing the time consuming traditional surgery, such as laser therapy and electrosurgical excision, that produces uncertain results and can affect normal adjacent tissue, treatment of neurofibromas with radiofrequency ablation and excision can be an alternative choice of treatment for patients with a large number of neurofibromas.
Catheter Ablation ; Cicatrix ; Female ; Follow-Up Studies ; Humans ; Laser Therapy ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1 ; Outpatients ; Skin

BACKGROUND: Surgical excision is generally recommended for the treatment of nodular fasciitis (NF) to rule out sarcoma. However, in cases of NF occurring on the face, the reported recurrence rate is higher and the surgical approach may result in considerable aesthetic concern. OBJECTIVE: To describe our experience with NF occurring on the face and evaluate the outcomes of surgical and nonsurgical methods of treatment. METHODS: We performed a retrospective review of 16 patients with NF on the face. The patients were treated with surgical excision or nonsurgical methods such as triamcinolone intralesional injection (TA ILI) and pinhole method with a carbon dioxide (CO2) laser. RESULTS: Among the 16 patients, surgical treatment was performed in 9 and recurrence occurred in 7 of these 9 patients (77.8%). The recurred lesions showed regression after repeated TA ILI. On the other hand, five patients underwent nonsurgical treatment after the histologic exclusion of malignancy. Their lesions showed regression after repeated pinhole treatment and TA ILI. In one case, NF spontaneously regressed. On a visual analogue scale, the nonsurgical approach showed superior results. However, the values were not statistically significant (6.90+/-1.56 vs. 5.61+/-1.36; p=0.163). The satisfaction level was lower in patients who experienced recurrence after surgical excision. CONCLUSION: Surgical treatment for NF on the face showed a noticeable recurrence rate and resulted in scarring. Therefore, considering the possibility of spontaneous regression, the nonsurgical method can be considered as an alternative treatment option for NF on the face.
Carbon Dioxide ; Cicatrix ; Fasciitis* ; Hand ; Humans ; Injections, Intralesional ; Laser Therapy ; Recurrence ; Retrospective Studies ; Sarcoma ; Triamcinolone

PURPOSE: An osteoma is one of the common benign tumors that penetrate the nasal portion, paranasal and frontal sinus. This tumor is mostly found by radiation test accidentally, however in rare cases; it can be found to be touched or with its symptoms as the tumor grows. We report this case since we found and healed the benign tumor which was affecting orbit and the both sides of fronal sinus. METHODS: A 19 year old female patient visited to our hospital due to the mass on her forehead. The symptoms began 3 years ago but no special symptom was found except for touchable mass. She was diagnosed as the osteoma of superior orbital parts and both sides of frontal sinus using X-ray and CT scanning. The size of osteoma was 5x2.5x3.5cm and indicated the patterns penetrated to the right side of orbital region. The osteoma excision was conducted with coronal incision and wide area of defect part in frontal sinus and superior orbital part were reconstructed by cranial bone graft and resorbable fixation plates. RESULTS: The patient recovered without any postoperative infections or complications and symptoms. Dysaesthesia was found on her frontal area but improved in 1 month after the surgery. CONCLUSION: The occurrences of osteoma in frontal sinus are rare and can be treated with conservative methods if there are no infections and symptoms. We report this case since we found the benign tumor, which was affecting orbit and the both sides of fronal sinus and healed it with coronal resectomy without any complications.
Female ; Forehead ; Frontal Sinus ; Humans ; Orbit ; Organic Chemicals ; Osteoma ; Transplants