Trichorhinophalangeal syndiome, a rare genetic disease, is characterzed by the triad of slow growing, brittle hair with early loss, a pear-shaped nose with bulbous tip and long philtrum, and coneshaped phalangeal epiphyses wiith resultant shortening and. deformity of hands and feet. A 24-year-old female visited our department for the evaluation of lalopecia. She had had sparse, thin, and brittle hair since birth. She also complained of short fingers ar d a pear-shaped nose with bulbous tip. The X-ray findings of her hands and feet showed cone-shaped epiphyses with shortening of the phalangeal bones. There was no family history of hair, nasal, or palnkoplantar phalangeal abnormality. Chromosomal study did not reveel any abnormal finding. Shortened phalangeal bones of her index and middle fingers were slightly improved by lengthening procedure with iIlizarov apparatus.
Congenital Abnormalities ; Epiphyses ; Female ; Fingers ; Foot ; Hair ; Hand ; Humans ; Lip ; Nose ; Parturition ; Young Adult

No abstract available.
Animals ; Embryonic Development* ; Female ; Mice* ; Oviducts* ; Pregnancy

PURPOSE: To evaluate the impact of postoperative radiotherapy (PORT) on patterns of failure and survivals in uterine carcinosarcoma patients treated with radical surgery. MATERIALS AND METHODS: Between October 1998 and August 2010, 19 patients with stage I-III uterine carcinosarcoma received curative hysterectomy and bilateral salpingo-oophorectomy with or without PORT at Seoul National University Hospital. Their hospital medical records were retrospectively reviewed. PORT and non-PORT groups included 11 and 8 patients, respectively. They were followed for a mean of 22.7 months (range, 7.8 to 126.6 months). RESULTS: At 5 years, the overall survival rates were 51.9% for entire, 61.4% for PORT, and 41.7% for non-PORT groups, respectively. There was no statistical difference between PORT and non-PORT groups with regard to overall survival (p = 0.682). Seven out of 19 (36.8%) patients showed treatment failures, which all happened within 12 months. Although the predominant failures were distant metastasis in PORT group and loco-regional recurrence in non-PORT group, there was no statistically significant difference in loco-regional recurrence-free survival (LRRFS) (p = 0.362) or distant metastasis-free survival (DMFS) (p = 0.548). Lymph node metastasis was found to be a significant prognostic factor in predicting poor LRRFS (p = 0.013) and DMFS (p = 0.021), while the International Federation Gynecology and Obstetrics (FIGO) stage (p = 0.043) was associated with LRRFS. CONCLUSION: Considering that adjuvant radiotherapy after surgical resection was effective to decrease loco-regional recurrence and most treatment failures were distant metastasis, multimodal therapy including surgery, radiotherapy, and chemotherapy might be an optimal treatment for uterine carcinosarcoma patients.
Carcinosarcoma ; Gynecology ; Humans ; Hysterectomy ; Lymph Nodes ; Medical Records ; Neoplasm Metastasis ; Obstetrics ; Radiotherapy, Adjuvant ; Recurrence ; Retrospective Studies ; Survival Rate ; Treatment Failure ; Uterus

Cutaneous pili migrans is a rare condition in which a hair shaft migrates under the superficial skin. We report a case in which a 2-year-old boy presented with an unusually shaped long hair strand that had penetrated the epidermis of the sole. We discuss the structure and fragility of skin in children, which may predispose their skin to invasion by a foreign body, viz., a long hair strand.
Child ; Child, Preschool ; Dermoscopy ; Epidermis ; Foreign Bodies ; Hair ; Humans ; Male ; Skin

BACKGROUND: The phenotypic heterogeneity of psoriasis could be explained by the alternate activation of either T-helper (Th)-1- or Th-17-related cytokines. However, evidence directly supporting this hypothesis is scarce. OBJECTIVE: To characterize the expression of Th-1- and Th-17-related cytokines according to the morphological psoriasis phenotype: guttate vs. plaque. METHODS: In this study, we enrolled 68 patients exhibiting either guttate or plaque psoriasis, and 10 healthy controls. To avoid age-related bias, age matching was performed for each group. Circulating levels of interferon (IFN)-gamma, interleukin (IL)-1RA, IL-2, IL-12p40, IL-17A, IL-22, and IL-23 were measured with an enzyme-linked immunosorbent assay (ELISA). Psoriasis-affected tissue was obtained through biopsy sampling from the eight patients who exhibited the most typical morphology. Levels of IL-1RA, IL-12p40, IL-17, IL-22, and IL-23 in the psoriasis tissue samples were measured with western blot analysis. RESULTS: ELISAs of the serum samples showed higher levels of inflammatory cytokines such as IL-1RA, IL-2, IL-23, and IFN-gamma in patients with psoriasis than in healthy controls. However, the inflammatory cytokine levels did not differ significantly between guttate and plaque psoriasis patients. Western blot analysis of psoriatic tissue revealed higher protein levels of Th-1- and Th-17-related cytokines in patients than in healthy controls. The levels of IL-12p40 and IL-23 were unexpectedly higher in plaque tissue than in guttate tissue. CONCLUSION: The morphological phenotype of psoriasis does not appear to be determined by a specific activation of either the Th-1 or Th-17 pathway. Rather, the cytokine profile influences disease activity and is altered according to the status of the lesion (early or chronic).
Bias (Epidemiology) ; Biopsy ; Blotting, Western ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Humans ; Interferons ; Interleukin 1 Receptor Antagonist Protein ; Interleukin-12 Subunit p40 ; Interleukin-17 ; Interleukin-2 ; Interleukin-23 ; Interleukins ; Phenotype ; Population Characteristics ; Psoriasis*

Facial palsy is a rare complication of infectious mononucleosis of Epstein-Barr virus infection, which can be easily overlooked by clinicians if one is unnoticed about it. We report a 2 year and 11 month old boy who was diagnosed by facial nerve palsy caused by Epstein-Barr virus infection. Pseudothrombocytopenia was also associated with him. Steroid (prednisolone 2mg/kg) was administered daily for 2 weeks and then maintained with alternative tapering schedule (2mg/kg at once QOD) in order to decompress facial nerve. He was completely recovered at 2 months of follow-up.
Appointments and Schedules ; Child* ; Facial Nerve* ; Facial Paralysis ; Follow-Up Studies ; Herpesvirus 4, Human* ; Humans ; Infant ; Infectious Mononucleosis ; Male ; Paralysis*

PURPOSE: Sudden, unexpected pediatric death triggers acute grief in most survivors. In this study, we analyzed the pediatric death in emergency room in order to find out the factors for minimized unexpected pediatric death and increase awareness of these conditions. METHODS: We performed a review on the records of 63 patients under the age of 16 years who died before and after admission to the emergency room of Yeungnam University Hospital during a 5 year period from January 1996 to December 2000. RESULTS: Among the total of 63 patients who died, 33 were male(52.4%) and 30 were female (47.6%). The most prevalent age group was between 1 month and 1 year of age(38%). We classified 3 categories by the direct cause of death, disease 21 cases(33%), accident 19 cases(30%), unknown 23 cases(37%) respectively. Among 23 cases of unknown cause of death, 13 cases(56.5 %) had been placed under medical attention for underlying diseases : these were 7 cases of neurologic disorder(30.4%) 5 cases of congenital heart disease 5 cases(21.7%) and 1 case of metabolic disease(4.4%). The most common types of accident were traffic accident(10 cases; 52.6%) and the next were drowning(4 cases; 21%), asphyxia(3 cases; 15.8%). CONCLUSION: In unexpected pediatric death, among unknown causes of death, the number of patients who had an underlying disease was greater than these patients who did not. We conclude, more attention needs to be paid to underlying disease, especially congenital heart disease and neurologic disease. A parents teaching program is necessary emergency for situations. This would decrease cases of unexpected pediatric death.
Cause of Death ; Emergencies* ; Emergency Service, Hospital* ; Female ; Grief ; Heart Defects, Congenital ; Humans ; Parents ; Survivors

Polymyositis (PM) is a chronic inflammatory disease that predominantly affects muscles. Systemic organ involvement, including the respiratory and gastrointestinal tracts, is frequently observed in PM, but renal involvement is rare. Herein, we report the case of a 56-year-old woman presenting with weight gain, edema, and generalized myalgia. Laboratory tests revealed elevated creatinine kinase level, hypoalbuminemia, and proteinuria. Histopathological examination of muscle biopsy revealed inflammatory myositis, and a renal biopsy confirmed immunoglobulin A (IgA) nephropathy. Based on the clinico-pathological results, the patient was diagnosed with PM with IgA nephropathy. This is a report of a rare occurrence of IgA nephropathy in a patient with PM presenting with chronic glomerulonephritis.
Biopsy ; Creatinine ; Edema ; Female ; Gastrointestinal Tract ; Glomerulonephritis ; Glomerulonephritis, IGA* ; Humans ; Hypoalbuminemia ; Immunoglobulin A* ; Immunoglobulins* ; Middle Aged ; Muscles ; Myalgia ; Myositis ; Phosphotransferases ; Polymyositis* ; Proteinuria ; Weight Gain

Drug reaction with eosinophilia and systemic symptom (DRESS) syndrome is a type of severe adverse drug-induced reaction. Dermatologists should make a quick diagnosis and provide appropriate treatment for DRESS syndrome to reduce mortality rates, which can be as high as 10%. We present the case of a 47-year-old man with schizoaffective disorder treated with lamotrigine who developed DRESS syndrome to emphasize the importance of close observation of patients with drug eruption. He was consulted for erythematous maculopapular rashes on the trunk that developed 3 weeks after starting lamotrigine. A few days later, he developed generalized influenza-like symptoms. The skin rashes spread over his entire body, and the sense of itching was rapidly aggravated within a few days. Increased liver enzyme levels and significant eosinophilia were found on laboratory test results. His condition was diagnosed as DRESS syndrome, and he was treated with systemic and topical corticosteroids for 2 weeks.
Adrenal Cortex Hormones ; Anticonvulsants ; Diagnosis ; Drug Eruptions ; Drug Hypersensitivity Syndrome ; Eosinophilia* ; Exanthema ; Humans ; Liver ; Middle Aged ; Mortality ; Pruritus ; Psychotic Disorders

BACKGROUND: Hypotension is a very common side effect of spinal anesthesia for cesarean delivery. If we can predict the degree of blood pressure decrease after spinal anesthesia, hypotension will be treated better. Tachycardia may reflect the effective circulatory volume deficit. We studied if preoperative heart rate can predict the degree of hypotension after spinal anesthesia. METHODS: Fifty-two parturients for elective cesarean delivery were enrolled and the gestation periods of all parturient were over 37 weeks. In the supine position, noninvasive blood pressure (BP) and heart rate (HR) were measured as baseline values. After change to the right decubitus position, spinal anesthesia was done. Hyperbaric bupivacaine 8 mg and fentanyl 15 microg were injected intrathecally through 26G spinal needle. After return to the wedged supine position, BP and HR were measured every minute until anesthetic level was fixed. If mean BP decreased below 70% value of baseline, ephedrine 5 mg was injected intravenously. The lowest mean BP, hypotension (<80% of baseline) and total ephedrine requirement were recorded. Retrospective analysis was done after grouping by baseline heart rate (below 80 vs. over 80 beats/min). RESULTS: The patients who had more rapid heart rate before anesthesia, tended to have more decrease of mean BP during spinal anesthesia (P < 0.001, R = 0.45). In retrospective group analysis, the incidence of hypotension was lower in low HR group (46% vs. 83%, P = 0.014). CONCLUSIONS: If preoperative heart rate is over 80 beats/min, careful management is required to prevent hypotension during spinal anesthesia for cesarean delivery.
Anesthesia ; Anesthesia, Spinal ; Blood Pressure ; Bupivacaine ; Ephedrine ; Fentanyl ; Heart ; Heart Rate ; Humans ; Hypotension ; Incidence ; Needles ; Pregnancy ; Retrospective Studies ; Supine Position ; Tachycardia