Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.
Bone Diseases, Developmental ; Cranial Nerve Diseases ; Facial Bones ; Female ; Head ; Humans ; Hyperostosis ; Rare Diseases ; Sclerosis ; Skull

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.
Bone Diseases, Developmental ; Cranial Nerve Diseases ; Facial Bones ; Female ; Head ; Humans ; Hyperostosis ; Rare Diseases ; Sclerosis ; Skull

PURPOSE: Radiotracers that bind to the central benzodiazepine receptor are useful for the investigation of various neurological and psychiatric diseases. [C-11]Flumazenil, a benzodiazepine antagonist, is the most widely used radioligand for central benzodiazepine receptor imaging by PET. We synthesized 3-(2-[F- 18]fluoro)flumazenil, a new fluorine-18 (t1/2=110 min) labeled analogue of benzodiazepine receptor imaging agent, and evaluated in vivo for biodistribution in mice. MATERIALS AND METHODS: Flumazenil (Ro 15-1788) was synthesized by a modification of the reported method. Precursor of 3-(2-[F-18]fluoro)flumazenil, the tosylated flumazenil derivative was prepared by the tosylation of the ethyl ester by ditosylethane. [F-18] labeling of tosyl substitued flumazenil precursor was performed by adding F-18 ion at 85 degree C in the hot cell for 20 min. The reaction mixture was trapped by C18 cartridge, washed with 10% ethanol, and eluted by 40% ethanol. Bidistribution in mice was determined after intravenous injection. RESULTS: The total chemical yield of tosylated flumazenil derivative was ~40%. The efficiency of labeling 3-(2-[F-18]fluoro)flumazenil was 66% with a total synthesis time of 50 min. Brain uptakes of 3-(2-[F-18]fluoro)flumazenil at 10, 30, 60 min after injection, were 2.5+/-0.37, 2.2+/-0.26, 2.1+/-0.11 and blood activities were 3.7+/-0.43, 3.3+/-0.07, 3.3+/-0.09%ID/g, respectively. CONCLUSION: We synthesized a tosylated flumazenil derivative which was successfully labeled with no-carrier-added F-18 by nucleophilic substitution.
Animals ; Benzodiazepines* ; Brain ; Ethanol ; Flumazenil* ; Injections, Intravenous ; Mice ; Receptors, GABA-A*

BACKGROUND: Fresh gas flow (FGF) influences the speeds of induction and emergence. In general, emergence protocol involves a stepwise decrease in the vaporizer setting at fixed FGF, which causes anesthetic overuse and contaminates operating rooms. This study was designed to compare the decreasing patterns of sevoflurane concentration among groups with a similar course but with different FGFs. METHODS: One hundred patients scheduled for elective operation were randomly allocated to 3 groups (FGF 1 L/min, FGF 2 L/min, FGF 4 L/min). After induction with thiopental sodium 5 mg/kg and rocuronium 0.9 mg/kg or vecuronium 0.1 mg/kg for tracheal intubation, anesthesia was maintained at 1.5% of end-tidal sevoflurane concentration at an inflow of 4 L/min (N2O 2 L/min and O2 2 L/min). Ten minutes prior to the estimated operation end point, we changed FGF and vaporizer settings to the following 3 different emergence protocols: changing inflow in the FGF 1 L/min group (N2O 0.5 L/min and O2 0.5 L/min) with turning vaporizer off, changing inflow in the FGF 2 L/min group (N2O 1 L/min and O2 1 L/min) with a two-step decrease in the vaporizer setting (1.0 vol% for first 5 minutes then with the vaporizer off), and maintaining the inflow in the FGF 4 L/min group with a three-step decrease in the vaporizer setting (1.0 vol% for first 5 minutes and 0.6 vol% for next 5 minutes then with the vaporizer off). In each group, inspiratory and end-tidal sevoflurane concentrations were recorded every minute for 16 minutes, while end-tidal CO2, mean arterial pressure, heart rate, and inspired oxygen fraction were recorded every two minutes for 16 minutes. RESULTS: End-tidal concentrations of sevoflurane were similar in the 3 groups at the 6th, and 7th minutes and continuously increasing differences in sevoflurane concentrations from the 11th to 16th minute were observed in the FGF 1 L/min and FGF 2 L/min groups versus the FGF 4 L/min group. The concentration curves for the FGF 1 L/min group showed a smoother decreasing pattern than those of the other groups. CONCLUSIONS: The use of low FGF without vaporizer during emergence reduces sevoflurane washout within anesthetic machines and the exhausting of anesthetics into operating rooms, and also offers an easier means of controlling anesthetic depth.
Anesthesia* ; Anesthetics ; Arterial Pressure ; Fibroblast Growth Factor 2 ; Heart Rate ; Humans ; Intubation ; Nebulizers and Vaporizers ; Operating Rooms ; Oxygen ; Thiopental ; Vecuronium Bromide

PURPOSE: Composite tissue allotransplantation has emerged as a new therapeutic modality to reconstruct major tissue defects of the head, neck and extremities. A questionnaire-based instrument, the Louisville Instrument for Transplantation(LIFT), has been developed to objectively assess the risk-versus-benefit ratio for composite tissue allotransplantation procedures. The objective of this study is to assess if the LIFT is a useful, reliable and valid tool to apply to the Korean population. METHODS: Seventy-three medical students and 60 lay public completed the LIFT questionnaire(translated to Korean) over the period from February 2010 to April 2010. Internal consistency was assessed using Cronbach's alpha. Test-retest reliability was analyzed using Pearson's correlation coefficient. Construct validity was assessed by comparing Pearson's correlation coefficients between perceived improvements in quality of life and responses to risk tolerance questions concerning organ transplants. RESULTS: Measurements of the test-retest reliability showed that Pearson's correlation coefficients ranged from 0.241 to 0.902, and Cronbach's alphas ranged from 0.52 to 0.80 for medical students and from 0.63 to 0.83 for the lay public. Pearson's correlation coefficients showed significant correlations between perceived improvements in quality of life and responses to risk tolerance questions concerning organ transplants. Hand transplant showed a significant correlation in medical students. Foot, hand, two hands, larynx, partial face transplants showed significant correlations for the lay public. CONCLUSION: The applicability of the LIFT to the Korean population was found to be reliable and valid. The LIFT may serve as a useful tool for clinical application in the Korean population.
Extremities ; Facial Transplantation ; Foot ; Hand ; Head ; Humans ; Larynx ; Neck ; Quality of Life ; Reproducibility of Results ; Students, Medical ; Transplants

Ophthalmoplegia, ataxia, and areflexia are a classical triad of Miller Fisher syndrome (MFS). The experience of dizziness secondary to ophthalmoplegia is also not uncommon. However, nystagmus is rare and vertigo, a symptom of vestibulocerebellar dysfunction, has not been reported yet. A 56-year-old woman visited our hospital due to sudden vertigo. Initial examination revealed nystagmus evoked by a bilateral horizontal gaze with left side dysmetria. The next day, her symptoms rapidly aggravated to ophthalmoplegia, severe ataxia, areflexia, and quadriplegia. She was diag-nosed with MFS and was treated with intravenous immunoglobulin. On the fourth day, she developed respiratory fail-ure and a ventilator was applied. Twenty-eight days after her admission, she recovered to the point of walking without any aid and was discharged with minimal disability. There are still controversies surrounding the nosology of MFS and many investigators have reported evidence for brainstem involvement. Vertigo can be additional evidence for the involvement of the central nervous system in MFS.
Ataxia ; Brain Stem ; Central Nervous System ; Cerebellar Ataxia ; Dizziness ; Female ; Humans ; Immunoglobulins ; Middle Aged ; Miller Fisher Syndrome* ; Ophthalmoplegia ; Quadriplegia ; Research Personnel ; Ventilators, Mechanical ; Vertigo* ; Walking

PURPOSE: Cyclin D1 and bcl-2 are involved in cell proliferation and apoptosis in tumor development and are commonly expressed in breast cancer. But there are few clinical reports on the correlation between cyclin D1 and bcl-2 expression. This study was designed to analyze the correlations of cyclin D1 and bcl-2 and their clinical implications in breast cancer. METHODS: Immunohistochemical expression of cyclin D1 and bcl-2 were studied in 342 infiltrative ductal carcinoma cases and were compared with clinicopathologic parameters such as age, tumor size, histologic grade, lymph node status, p53, c-erbB2 and hormone receptors. RESULTS: Cyclin D1 expression was found in 86 of 342 cases (25.1%). Bcl-2 was positive in 227 of 342 cases (66.4%). Bcl-2 overexpression was associated with the high expression of cyclin D1 (p=0.001). Correlation was detected between both cyclin D1 and bcl-2 and hormone receptor positivity (p<0.001). There was a reverse correlation between bcl-2 and histologic grade, p53, c-erbB2. And the bcl-2 overexpression group showed better disease free survival rates at 3-year follow up. CONCLUSION: Higher expression of cyclin D1 was associated with bcl-2 overexpression. Positive estrogen receptor expression was associated with high cyclin D1 and bcl-2 expression. Bcl-2 tends to correlate with a positive clinical outcome.
Apoptosis ; Breast Neoplasms ; Carcinoma, Ductal ; Cell Proliferation ; Cyclin D1 ; Cyclins ; Disease-Free Survival ; Estrogens ; Follow-Up Studies ; Lymph Nodes ; Prognosis

Cystitis glandularis is a benign metaplastic proliferative lesion of the urinary bladder which usually occurs in the setting of chronic irritation and infection or in some cases as a congenital process. Sometimes it presents as a tumor mass-like florid lesion, grossly mimicking malignancy. We report a case of 59-year-old man with multiple mass lesions around the trigone and the neck portion, which suggested the possibility of malignancy in clinical and radiological evaluations. Final diagnosis was confirmed by transurethral resection. The surface urothelial lining was intact. The submucosa showed von Brunn's nests, cystitis glandularis and cystitis cystica in the edematous lamina propria. There were numerous glands lined by tall columnar, mucin producing epithelium without atypia, conforming to the appearance of the intestinal variant of cystitis glandularis. The cystitis glandularis may mimic a neoplasm on gross evaluation. The intestinal variant of cystitis glandularis is particularly likely to be problematic when florid.
Cystitis* ; Diagnosis ; Epithelium ; Humans ; Middle Aged ; Mucins ; Mucous Membrane ; Neck ; Urinary Bladder Neoplasms* ; Urinary Bladder*

PURPOSE: Canalicular laceration is relatively common due to its exposed, vulnerable location in case of facial trauma. Conjunctivodacryocystorhinostomy has been the standard treatment for canalicular obstruction secondary to unrepaired canalicular laceration. In spite of a high rate of relieving tear-duct obstruction, this method is noted to be associated with low rate of patient satisfaction and a number of complications. The goal of this study is to report the good results of delayed lacrimal stent implantation with Mini Monoka(R) for patients whose canaliculi were not repaired by initial surgery. METHODS: From May of 2005 to February of 2007, four patients who underwent delayed lacrimal stent implantation using Mini Monoka(R) in canalicular laceration were retrospectively reviewed. First, the previous scar incision was made over the lower lid and we identified the cut end of proximal lacerated canaliculus. The Mini Monoka(R) was passed through the punctum to the cut end of the proximal lacerated canaliculus. We identified the cut end of the distal lacerated canaliculus, whose cut end has rolled white edges after careful excision of the scarred lid tissue. We then passed Mini Monoka(R) through the lacerated inferior canaliculus. Using an operating microscope, we placed three interrupted sutures of 8-0 Ethilon to join the canalicular ends. Silicone stent was left in place for 6 months. The mean age of the patients was 48.5 years (range, 35 to 59 years). The time interval from initial trauma to delayed lacrimal stent implantation was between 3 and 31 days. Follow-up periods ranged from 12 and 20 months. RESULTS: The results of reconstruction were classified into normal, fair and poor. Patent lacrimal drainage systems were achieved in three of the four cases. In one case, epiphora was encountered. No cases of stent displacement, conjunctivitis or granuloma formation were encountered. CONCLUSIONS: Even though canalicular reconstruction was delayed for a long time, attempting canalicular reconstruction would be acceptable before considering secondary operations like dacryocystorhinostomy and conjunctivodacryocystorhinostomy.
Cicatrix ; Conjunctivitis ; Dacryocystorhinostomy ; Displacement (Psychology) ; Drainage ; Follow-Up Studies ; Granuloma ; Humans ; Hypogonadism ; Lacerations ; Lacrimal Apparatus Diseases ; Mitochondrial Diseases ; Nylons ; Ophthalmoplegia ; Patient Satisfaction ; Retrospective Studies ; Silicones ; Stents ; Sutures

No abstract available.
Animals ; Antioxidants* ; Blotting, Western ; Immunohistochemistry ; Mice* ; Oenanthe* ; Skin*