Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of the nervous system, the severity of symptoms, and the age of disease onset. The characteristics of patients with acute neuronopathic- and chronic neuronopathic-type Gaucher disease include oculomotor abnormalities, bulbar signs, limb rigidity, seizures and occasional choreoathetoid movements, and neuronal loss. However, the mechanisms leading to the neurodegeneration of this disorder remain unknown. To investigate brain dysfunction in Gaucher disease, we studied the possible role of inflammation in neurodegeneration during development of Gaucher disease in a mouse model. Elevated levels of the proinflammatory cytokines, IL-1alpha, IL-1beta, IL-6, and TNF-alpha, were detected in the fetal brains of Gaucher mice. Moreover, the levels of secreted nitric oxide and reactive oxygen species in the brains of Gaucher mice were higher than in wild-type mice. Thus, accumulated glucocerebroside or glucosylsphingosine, caused by glucocerebrosidase deficiency, may mediate brain inflammation in the Gaucher mouse via the elevation of proinflammatory cytokines, nitric oxide, and reactive oxygen species.
Up-Regulation/genetics ; Tumor Necrosis Factor-alpha/genetics/secretion ; Reverse Transcriptase Polymerase Chain Reaction ; Reactive Oxygen Species/metabolism ; RNA, Messenger/genetics/metabolism ; Nitric Oxide/metabolism ; Microglia/cytology/metabolism ; Mice, Knockout ; Mice, Inbred ICR ; Mice, Inbred C57BL ; Mice ; Interleukin-6/genetics/secretion ; Interleukin-1/genetics/secretion ; Inflammation/immunology ; Glucosylceramidase/genetics ; Gaucher Disease/*genetics/metabolism/pathology ; Cytokines/*genetics/immunology/secretion ; Cells, Cultured ; Brain/embryology/*metabolism/pathology ; Animals

The idiopathic hypereosinophilic syndrome (HES) represents a heterogenous group of disorder characterized by prolonged eosinophilia of undetectable cause and multiorgan system dysfunction. Bone marrow is the most frequentry involved organ, but the most severe clinicopathologic involvement is heart. The major cause of death in patients with the HES is cardiac dysfunction especially congestive heart failure resulted from endocardial fibrosis and restrictive cardiomyopathy. We have experienced a case of DES with both cardiac and pulmonary involvements. The patient was an 18-month-old infant with poorly controlled lung abscess who complained of fever and productive cough. On the microscopic examination of pleural effusion, eosinophilic infiltration was noted. M-mode echocardiogram showed diffuse thickening of interventricular septum and left ventricular posterior wall. On the peripheral blood smear, prolonged eosinophilia was observed. We confirmed this case with bone marrow aspiration which showed eosinophilic hyperplasia.
Bone Marrow ; Cardiomyopathy, Restrictive ; Cause of Death ; Cough ; Eosinophilia ; Eosinophils ; Fever ; Fibrosis ; Heart ; Heart Failure ; Humans ; Hypereosinophilic Syndrome* ; Hyperplasia ; Infant ; Lung Abscess ; Pleural Effusion

A 41-year-old female complaining of easy fatigue, headache, thickened extremities and deepened facial folds was admitted to the hospital. As early as 6 years ago, she had been told by family members that her voice was changed and both hands was thickened. Cranial plain radiography indicated ballooning of sella turcica. Sella MRI disclosed 2.2cm sized pituitary tumor with suprasellar extension. The pituitary tumor with hypothalamic extension was removed via a transsphenoidal approach. The postoperative course was uneventful until hyponatremia with sudden headache and respiratory arrest was developed. The case was due to hyponatremic encephalopathy on the basis of the clinical course and symptoms, and 3% hypertonic saline was infused for 12 hours until the hyponatremia was corrected. We have experienced a mortality case of hyponatremic encephalopathy in which surgieal removal of a pituitary tumor from a female acromegalic patient in menstruant period was followed by the sudden occurrence of hyponatremia, which in turn was later associated with marked brain edema.
Adult ; Brain Edema ; Extremities ; Fatigue ; Female ; Hand ; Headache ; Humans ; Hyponatremia ; Magnetic Resonance Imaging ; Mortality ; Pituitary Neoplasms ; Radiography ; Sella Turcica ; Voice

The purpose of this study was to evaluate the clinical efficacy of guided tissue regeneration(GTR) technique using chitosan nanofiber membrane and to compare it to the clinical efficacy following GTR using PLA/PLGA(copolymer of polylactic acid and polylacticglycolic acid) membrane in mandibular class II furcation defects in human. The chitosan nanofiber membranes were applied to the mandibular class II furcation defects of 13 patients(test group) and PLA/PLGA membranes were applied to those of 11 patients(control group). Probing pocket depth, clinical attachment level, gingival recession, plaque index and gingival index were measured at baseline and 3 months postoperatively. Vertical and horizontal furcation defect depth were measured at surgery. Both groups were statistically analyzed by Wilcoxon signed Ranks Test and Mann-Whitney Test using SPSS program. The results were as follows: 1. Probing pocket depth, clinical attachment loss and gingival index were significantly reduced at 3 months postoperatively compared to values of baseline in both groups(p<0.05). 2. Gingival recession and plaque index were not significantly decreased at 3 months postoperatively compared to values of baseline in both groups. 3. No significant difference between two groups could be detected with regard to changes of probing pocket depth, gingival recession, clinical attachment level, plaque index and gingival index at 3 months postoperatively. In conclusion, chitosan nanofiber membrane is effective in the treatment of human mandibular class II furcation defects and a longer period study is needed to fully evaluate the outcomes.
Humans

The purpose of this study was to evaluate the clinical efficacy of guided tissue regeneration(GTR) technique using chitosan nanofiber membrane and to compare it to the clinical efficacy following GTR using PLA/PLGA(copolymer of polylactic acid and polylacticglycolic acid) membrane in mandibular class II furcation defects in human. The chitosan nanofiber membranes were applied to the mandibular class II furcation defects of 13 patients(test group) and PLA/PLGA membranes were applied to those of 11 patients(control group). Probing pocket depth, clinical attachment level, gingival recession, plaque index and gingival index were measured at baseline and 3 months postoperatively. Vertical and horizontal furcation defect depth were measured at surgery. Both groups were statistically analyzed by Wilcoxon signed Ranks Test and Mann-Whitney Test using SPSS program. The results were as follows: 1. Probing pocket depth, clinical attachment loss and gingival index were significantly reduced at 3 months postoperatively compared to values of baseline in both groups(p<0.05). 2. Gingival recession and plaque index were not significantly decreased at 3 months postoperatively compared to values of baseline in both groups. 3. No significant difference between two groups could be detected with regard to changes of probing pocket depth, gingival recession, clinical attachment level, plaque index and gingival index at 3 months postoperatively. In conclusion, chitosan nanofiber membrane is effective in the treatment of human mandibular class II furcation defects and a longer period study is needed to fully evaluate the outcomes.
Humans

The current interest in periodontal tissue regeneration has lead to research in bone graft, root surface treatments, guided-tissue regeneration, and the administration of growth factors as possible means of regenerating lost periodontal tissue. Several studies have shown that a strong correlation between platelet-rich plasma and the stimulation of remodeling and remineralization of grafted bone exists, resulting in a possible increase of 15-30% in the density of bone trabeculae. The purpose of this study was to study the histopathological correlation between the use of platelet-rich plasma and a bone xenograft used in conjunction with a non-resorbable guided-tissue membrane, e-PTFE, compared to a control group with regards to bone regeneration at the implant fixture site. Implant fixtures were inserted and graft materials placed into the left femur of in the experimental group, while the control group received only implant fixtures. In the first experimental group, platelet-rich plasma and BBP xenograft were placed at the implant fixture site, and the second experimental group had platelet-rich plasma, BBP xenograft, and the e-PTFE membrane placed at the fixture site. The degree of bone regeneration adjacent to the implant fixture was observed and compared histopathologically at 2, 4, and 8 weeks after implant fixture insertion. The results of the experiment are as follows: 1. The rate of osseointegration to the fixture threads was found to be greater in the first experimental group compared to the control group. 2. The histopathological findings of the second experimental group showed rapid resorption of BBP with subsequent new bone formation replacing the resorbed BBP. 3. The second experimental group showed new bone formation in the area adjacent to the fixture threads beginning two weeks after fixture implantation, with continued bone remodeling in the areas mesial and distal to the fixture. 4. Significant new bone formation and bone remodeling was observed in both experimental groups near the implant fixture sites. 5. The rate of osseointegration at the fixture threads was greater in the second experimental group compared to the first group, and the formation of new bone and trabeculae around the fixture site occurred after the fourth week in the second experimental group. The results of the experiment suggest that a greater degree of new bone formation and osseointegration can occur at the implant fixture site by utilizing platelet-rich plasma and bone xenografts, and that these effects can be accelerated and enhanced by concurrent use of a non-resorbable guided tissue membrane.
Bone Regeneration ; Bone Remodeling ; Dental Implants* ; Femur ; Heterografts ; Intercellular Signaling Peptides and Proteins ; Membranes ; Osseointegration ; Osteogenesis ; Platelet-Rich Plasma* ; Regeneration* ; Transplants

Bacterial byproducts and volatile sulfur compounds(VSC) have been found to be the leading intra-oral agents, specifically, the byproducts of gram negative anaerobic bacteria have been implicated as primary factors of halitosis in patients presenting with periodontal disease. The objective of this study was to determine the correlation between periodontal treatment and the subsequent reduction in the level of halitosis. Forty-three subjects presenting with periodontal disease were examined before periodontal treatment, one week after treatment, one month after treatment, and finally, two months after treatment, using a portable sulfide monitoring Halimeter(R) to measure the VSC concentrations at the prescribed intervals. The results of the study were as follows: 1. Significant decreases in the mean VSC concentration were observed at the one week, one month, and two month post-op intervals relative to the pre-op measurement. (p<0.05) 2. Significant decreases in the mean VSC concentration were observed in subjects after completion of flap operations. Significant decreases in the mean VSC concentration were observed at the one and two month post-flap operation measurement relative to the VSC concentration at one week (p<0.05), but no significant differences between the one month and two month VSC concentrations were found. (p<0.05) 3. Significant decreases in the mean VSC concentration were observed in subjects after completion of subgingival curettage (p<0.05). Significant decreases were found between the one week and one month measurements and between the one month and two month measurements, but significant differences were not observed between the one week and two month measurements. (p<0.05) The results of this study show significant decreases in VSC concentration in test subjects after periodontal treatment. It can be inferred from the results above, that periodontal disease is a significant contributing factor of halitosis, and that treatment of periodontal disease can been an effective means of reducing VSC concentration in patients presenting with halitosis concurrent with periodontal disease.
Gram-Negative Anaerobic Bacteria ; Halitosis ; Humans ; Periodontal Diseases ; Subgingival Curettage ; Sulfur

BACKGROUND: Cases of patients presenting side effects after illegal therapeutic attempts by non-medical personnel have been increasing and the patterns of attempts and related side effects become complicated. OBJECTIVE: To analyze the causes and characteristics of illegal therapeutic attempts and its' side effects performed by non-medical personnel. METHODS: Between April 1, 2008 and April 30, 2008, a total of 120 case reports of patients who developed side effects after illegal therapeutic attempts by non-medical personnel were collected from the members of the Korean dermatological association and analyzed. RESULTS: Clinical diagnoses, suggested to have before receiving illegal therapeutic attempts, revealed that 44 (36.6%) patients presented various pigmentary disorders, such as acquired melanocytic nevi and melasma, 22 (18.3%) wanted to have tattooing for permanent make up, skin aging in 16 (13.3%) cases, and acne in 10 (8.3%). Illegal therapeutic attempts performed included tattooing for permanent make up in 22 (18.3%) cases, peelings 19 (15.8%), laser therapies 18 (15.0%), and filler injection 12 (10.0%). The various clinical diagnoses of the patients with side effects were suggested, such as contact dermatitis in 34 (25.6%) cases, scarring in 33 (24.8%), post-inflammatory hyperpigmentation 20 (15.0%), secondary infection 19 (14.3%), and acne or acneiform eruption 9 (6.8%). CONCLUSION: In this report, we demonstrated patterns of illegal therapeutic attempts by non-medical personnel and its' side effects. We suggest that more effort should be followed by dermatologists to inform patients the risks of the illegal therapeutic attempts by non-medical personnel and to increase public health awareness.
Acne Vulgaris ; Acneiform Eruptions ; Cicatrix ; Coinfection ; Cosmetics ; Dermatitis, Contact ; Humans ; Hyperpigmentation ; Laser Therapy ; Melanosis ; Nevus, Pigmented ; Public Health ; Skin Aging ; Tattooing

PURPOSE: T1G3 bladder tumor has an incidence ranging from 6 to 23% of all superficial bladder tumors, a recurrence rate of 50 to 74%, and a rate of up to 50% for progression to invasive cancer after transurethral resection (TUR) followed by intravesical BCG instillation. We evaluated the recurrence and progression rates after TUR followed by BCG intravesical instillation. MATERIALS AND METHODS: We retrospectively reviewed the records of 30 patients with T1G3 transitional cell carcinoma (TCCa); a group consisting of 14 papillary, 14 non-papillary and 2 mixed TCCa. We evaluated the tumor recurrence and progression rates in relation with the patients' age, tumor multiplicity and configuration. Mean patients' age was 63.2 years and mean follow-up duration was 32.2 months. All patients received TUR and BCG intravesical instillation. RESULTS: Eleven cases (36.7%) had recurrence after a mean interval of 8.3 months, and 6 cases (20%) had progression after a mean interval of 10.2 months. The mean age appears to be a predictive factor of tumor recurrence, but not progression. All cases of non-papillary TCCa progressed to invasive bladder cancer. Two-year cumulative recurrence-free survival was 66.7% and progression-free survival was 83.3%. CONCLUSIONS: Our study demonstrated the high recurrence rate and progression potential of T1G3 bladder tumor. In cases of tumor recurrence during the follow-up period in elderly patients and in cases of reported non-papillary TCCa, close observation is recommended and early cystectomy should be considered.
Administration, Intravesical* ; Aged ; Carcinoma, Transitional Cell ; Cystectomy ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Incidence ; Mycobacterium bovis* ; Recurrence* ; Retrospective Studies ; Urinary Bladder Neoplasms* ; Urinary Bladder*

No abstract available.
Intracranial Arteriovenous Malformations* ; Radiosurgery*