No abstract available.
Hysterectomy*

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

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

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

Cornelia de Lange syndrome was first described by Brachmann in 1916 and later reported by Cornelia de Lange in 1933. It is a rare malformation and retardation syndrome of unknown causes, with characteristic abnormalities including microcephaly, short stature, heavy eyebrows, long eyelashs, strabismus, small nose with anteverted nares, long philtrum, micrognathia, hypoplastic nipples and umbilicus, flexion contracture of elbows, micromelia and hirsutism. Rare cases of possible autosomal-recessive and autosomal-dominant inheritance have been reported. Severe growth and mental retardation are common. Aspiration, apnea, bowel obstruction, and cardiac defects constitute significant dangers during infancy. Failure to thrive is the rule. Also they have common anomaly of upper & lower extremity, example of proximally placed thumbs, clinodactyly of the fifth finger and syndactyly of the second and third toes. We present a case of Cornelia de Lange syndrome, associated with syndactyly of the great toes and the second toes.
Apnea ; Contracture ; De Lange Syndrome* ; Elbow ; Eyebrows ; Failure to Thrive ; Fingers ; Foot* ; Hirsutism ; Intellectual Disability ; Lip ; Lower Extremity ; Microcephaly ; Nipples ; Nose ; Strabismus ; Syndactyly* ; Thumb ; Toes ; Umbilicus ; Wills

OBJECTIVE: To analyse neonatal outcomes of the very low birthweight infants born to women who underwent an indicated preterm delivery and spontaneous preterm delivery. METHODS: We performed an observational study of 150 very low birthweight(<1500 grams) infants delivered at Samsung Medical Center. The study population was limited to singleton infants without major congenital anomalies. The primary reason for delivery was categorized as indicated preterm delivery or spontaneous preterm delivery. Selected neonatal outcomes were compared between infants born to women in each of these groups. RESULTS: Univariate analyses showed some survival benefits in infants born to women who underwent indicated preterm delivery. Selected neonatal outcomes, however, did not differ between the groups in the multiple logistic regression analysis. CONCLUSION: There was no survival advantage to the very low birthweight infants born to women who underwent an indicated preterm delivery compared to those born to women with spontaneous preterm delivery.
Female ; Humans ; Infant* ; Logistic Models ; Observational Study