The majority of neurodegenerative dementias are thought to result primarily from the misfolding, aggregation and accumulation of proteins which interfere with protein homeostasis in the brain. Some of them are caused by the expansion of unstable nucleotide repeats, which include Huntington's disease as a prototype. Other neurodevelopmental or neurodegenerative disorders, such as fragile X syndrome, some spinocerebellar ataxias and myotonic dystrophies exhibit cognitive or behavioral deficits as parts of their clinical manifestations. Unstable repeat expansions include trinucleotide, tetranucleotide, and pentanucleotide. Recently hexanucleotide repeat expansion in frontotemporal dementia and amyotrophic lateral sclerosis was identified. The pathogenic mechanisms for these repeat disorders include either loss of protein function or gain of function at the protein or RNA levels. The aim of this article is to review proposed mechanisms by which unstable repeat expansions give rise to degeneration of brain with the hope of understanding the diseases and providing insights into the areas of therapeutic intervention. We will review these potential mechanisms in the context of fragile X syndrome, Huntington's disease, spinocerebellar ataxias, myotonic dystrophy, and frontotemporal dementia and amyotrophic lateral sclerosis. We will also discuss the potential targets for therapeutic intervention.
Amyotrophic Lateral Sclerosis ; Brain ; Dementia ; Fragile X Syndrome ; Frontotemporal Dementia ; Homeostasis ; Huntington Disease ; Myotonic Dystrophy ; Neurodegenerative Diseases ; Proteins ; RNA ; Spinocerebellar Ataxias

The majority of neurodegenerative dementias are thought to result primarily from the misfolding, aggregation and accumulation of proteins which interfere with protein homeostasis in the brain. Some of them are caused by the expansion of unstable nucleotide repeats, which include Huntington's disease as a prototype. Other neurodevelopmental or neurodegenerative disorders, such as fragile X syndrome, some spinocerebellar ataxias and myotonic dystrophies exhibit cognitive or behavioral deficits as parts of their clinical manifestations. Unstable repeat expansions include trinucleotide, tetranucleotide, and pentanucleotide. Recently hexanucleotide repeat expansion in frontotemporal dementia and amyotrophic lateral sclerosis was identified. The pathogenic mechanisms for these repeat disorders include either loss of protein function or gain of function at the protein or RNA levels. The aim of this article is to review proposed mechanisms by which unstable repeat expansions give rise to degeneration of brain with the hope of understanding the diseases and providing insights into the areas of therapeutic intervention. We will review these potential mechanisms in the context of fragile X syndrome, Huntington's disease, spinocerebellar ataxias, myotonic dystrophy, and frontotemporal dementia and amyotrophic lateral sclerosis. We will also discuss the potential targets for therapeutic intervention.
Amyotrophic Lateral Sclerosis ; Brain ; Dementia ; Fragile X Syndrome ; Frontotemporal Dementia ; Homeostasis ; Huntington Disease ; Myotonic Dystrophy ; Neurodegenerative Diseases ; Proteins ; RNA ; Spinocerebellar Ataxias

The acardiac twin, or twin reversal of arterial perfusion (TRAP) sequence is encountered in approximately 1% of monozygotic twins with an incidence of one in 35,000 births. The problem results from vascular anastomoses between the arterial and venous circulation of normal "pump" twin and that of recipient "perfused" acardiac twin. The recipient twin may display severe and lethal anomalies, including acardia and acephalus. The pump twin is structurally normal. Mortality of about 50-75% in cases without treatment is due to heart failure, prematurity or cord entanglement. We report a case of acardiac twin diagnosed by ultrasound prenatally.
Heart Failure ; Humans ; Incidence ; Mortality ; Parturition ; Perfusion ; Twins, Monozygotic ; Ultrasonography*

In case of unresectable or metastatic gastric cancer, though many trials have been going, treatment results are poor yet. We report a patient with peritoneal metastasis from gastric cancer effectively treated with docetaxel and cisplatin chemotherapy. The patient was a 33 year-old man who was confirmed poorly differenciated adenocarcinoma of stomach 5 years ago. At the diagnosis, the stage of gastric cancer was T2N3M0. He underwent subtotal gastrectomy with Billoth II anastomosis and 6th cycles of postoperative adjuvant chemotherapy consisting of FAMTX. After that, there was no evidence of recurrence. Three years later, he was admitted to our hospital complaining of abdominal pain and distension. Abdominal CT revealed that recurred gastric cancer in anastomotic site with carcinomatous peritonei and multiple lymphadenopathy. He was performed chemotherapy combined with docetaxel (75 mg/m2) and cisplatin (75 mg/m2). After 3rd chemotherapy, follow up abdominal CT showed nearly complete regression of bowel loops, lymph node and ascites. After completion of 7th cycles of chemotherapy, it remained as complete response for recurred gastric cancer and he has no evidence of recurrence for over 2 years.
Abdominal Pain ; Adenocarcinoma ; Adult ; Ascites ; Chemotherapy, Adjuvant ; Cisplatin* ; Diagnosis ; Drug Therapy* ; Follow-Up Studies ; Gastrectomy ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Neoplasm Metastasis* ; Peritoneal Neoplasms ; Recurrence ; Stomach ; Stomach Neoplasms* ; Tomography, X-Ray Computed

OBJECTIVE: The purpose of this study was to identify differences in thinking between schizophrenic patients and healthy subjects with linguistic-philosophical approach and to develop a tool to measure pathological thinking. METHODS: Approximately 50 cards(pictures of either representational or abstract sculptures and paintings) from the previous experiment(1997) were carefully examined and 10 cards were selected based on their variety and promptness of the response. Twenty-four schizophrenic patients and 19 healthy subjects participated in this experiment. Participants were required to give a title to each picture. Their responses were analysed based on the forms of thinking, abstractness(or concreteness) and the category of the title. Each response was also coded either direct or indirect. RESULTS: 1) Schizophrenic patients emitted more direct and simple descriptive responses whereas healthy subjects showed projection-related direct traits, indirect traits, indirect association and generalization. 2) Both groups tended to utilize the whole rather than parts. Schizophrenic group depended more on the whole pictures than healthy group. Healthy subjects showed more generalization tendency with parts. 3) Both groups preferred concrete titles to abstract ones. Schizophrenic group(95.3%) used more concrete titles than healthy group(71.4%) and healthy group(28.65%) used more abstract titles than schizophrenic group(4.7%). 4) Schizophrenic patients(73.5%) showed more directness in thinking than healthy subjects, whereas healthy subjects(58.7%) more indirectness. CONCLUSIONS: 1) Schizophrenic patients clearly showed direct and simple forms of thinking and expressive language, lacking reasoning, and systematic processing. Additionally, schizophrenic patients simply responded to the whole and used concrete and direct expression. 2) Replication study is warranted to improve reliability and validity of the tool we developed. Research on individual differences needs to be conducted to measure differences among individuals and change over time in an individual. 3) Further study on the factors which might be related to forms of thinking and language expressions, such as intelligence is warranted.
Generalization (Psychology) ; Humans ; Individuality ; Intelligence ; Reproducibility of Results ; Schizophrenia ; Sculpture ; Thinking

PURPOSE: We modified the Scuderi bone graft method for severely varus deformed patients, and then analyzed the clinical and radiological results and the changes of BMD at bone graft site. MATERIALS AND METHODS: Twenty-three total knee arthroplasties were performed in severely deformed varus knees. The proximal tibia was resected less than 10 mm thickness. In anteroposterior and tibial plateau view, defects was converted into a trapezoidal wedge shape for the self locking, and preserved anterior and posterior cortex. The defect was filled with an autogenous bone graft and fixed with two screws perpendicularly for early ambulation. RESULTS: The graft was completely united in 21 cases (90%) and the average of the union was 4 months postoperatively. The results were classified as excellent in 16 knees (70%) , good in 6 knees (26%) , and fair 1 knee (4%) using HSS knee rating scale. The average arc of motion was 115. and the tibio-femoral angle was 6.3. valgus. The BMD of bone graft site was checked 1.03 +/- 0.033 g/cm2 postoperatively and converted to 0.82 +/- 0.075 g/cm2 at follow-up 1 year. CONCLUSION: Modified autogenous bone graft could be preserved the subchondral bone essential for optimal thickness of cement and fixation of the tibial component.
Arthroplasty* ; Early Ambulation ; Follow-Up Studies ; Humans ; Knee* ; Tibia ; Transplants*

Anesthesia ; Cranial Nerves ; Facial Nerve ; Humans ; Mandibular Nerve ; Molar ; Paralysis

Diagnosis ; Gingival Recession ; Humans ; Hyperemia ; Postoperative Complications ; Root Resorption ; Surgery, Oral ; Tooth Loss ; Tooth Movement ; Tooth

BACKGROUND: The injection pain of propofol is a frequent and well-known adverse effect. This study was designed to determine the optimal effect-site concentration of remifentanil for minimizing injection pain during induction with propofol. METHODS: A total intravenous anesthetic technique was used for patients undergoing general anesthesia and remifentanil was pretreated to reach a certain target concentration before propofol injection. Using Dixon's up-and-down method, the degree of pain described by the patient was used to adjust the target concentration of remifentanil for the next patient. Ten success-failure curves (crossovers) were sought to find the effect-site concentration (EC) of remifentanil for minimizing injection pain of propofol. RESULTS: The EC of remifentanil in 50% and 95% of adult female population (EC50 and EC95) for minimizing injection pain of propofol were 3.09 ng/ml (95% confidence limits [CI] 2.92-3.30 ng/ml) and 3.78 ng/ml (95% CI 3.45-3.95 ng/ml), respectively. Clinically significant hemodynamic compromise or respiratory complications were not found during remifentanil infusion. CONCLUSIONS: Maintaining 3.78 ng/ml EC of remifentanil during induction with propofol attenuate propofol injection pain without serious adverse events in female patients undergoing general anesthesia and this method may provide the patient's comfort without preparing other drugs for pain relief.
Adult ; Anesthesia, General ; Female ; Hemodynamics ; Humans ; Piperidines ; Propofol