OBJECTIVE: Repeated treatment with psychostimulants induces sensitization of the dopaminergic system in the brain. Dopaminergic sensitization has been proposed as a mechanism of psychosis. Although antipsychotics block the expression of sensitized behavior, they are ineffective for reversing the sensitized state. We investigated the effect of clozapine, haloperidol, and fluoxetine on the reversal of cocaine-induced behavioral sensitization. METHODS: Male ICR mice were sensitized to cocaine with repeated treatment. Animals were then split into four groups, and each group was treated with vehicle or one of the above drugs for 5 days. After a 3-day drug washout, locomotor activity was assessed before and after a cocaine challenge. RESULTS: Clozapine reversed the sensitized state, whereas haloperidol did not. Fluoxetine seemed to reverse the sensitization partially. CONCLUSION: We confirmed that D2 blockade was not effective for reversing sensitization. The reversal by clozapine is partially explained in terms of its strong 5-HT2 and weak D2 affinity. The partial reversal by fluoxetine seemed to be related to its serotonin-augmenting action.
Animals ; Antipsychotic Agents ; Brain ; Clozapine* ; Cocaine ; Fluoxetine* ; Haloperidol* ; Humans ; Male ; Mice ; Mice, Inbred ICR ; Motor Activity ; Psychotic Disorders

Air embolism is a rare complication of percutaneous nephrolithotomy. Patent foramen ovale, which is necessary in fetal circulation, is a potential route for emboli arising from the venous system to enter the systemic arterial circulation, resulting in paradoxical air embolism syndrome. A case of paradoxical air embolism during percutaneous nephrolithotomy is presented. To our knowledge, this is the first report of paradoxical air embolism associated with patent foramen ovale during percutaneous nephrolithotomy.
Adult ; Diverticulum/surgery ; Embolism, Air/*etiology ; Embolism, Paradoxical/*etiology ; Foramen Ovale, Patent/complications/surgery ; Humans ; Intraoperative Complications/*etiology ; Male ; Nephrostomy, Percutaneous/*adverse effects

Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal proliferation of Langerhans cells. The temporal bone is frequently involved in pediatric LCH cases, but there have been few reports of adult LCH with temporal bone involvement. We present a case of adult onset LCH affecting the temporal bone. The diagnosis was made by biopsy, based on histopathologic findings of Langerhans cells. Diagnostic and therapeutic considerations of LCH involving the temporal bone are discussed.
Adult ; Biopsy ; Ear Canal ; Histiocytosis, Langerhans-Cell ; Humans ; Langerhans Cells ; Rare Diseases ; Temporal Bone

Purpose: Infertility affects 10% to 15% of couples, and male factor accounts for 50% of the cases. The relevant male genetic factors, which account for at least 15% of male infertility, include Y-chromosome microdeletions. We investigated clinical data and patterns of Y-chromosome microdeletions in Korean infertile men. Materials and Methods: A total of 919 infertile men whose sperm concentration was ≤5 million/mL in two consecutive analyses were investigated for Y-chromosome microdeletion. Among them, 130 infertile men (14.1%) demonstrated Y-chromosome microdeletions. Medical records were retrospectively reviewed. Results: In 130 men with Y-chromosome microdeletions, 90 (69.2%) had azoospermia and 40 (30.8%) had severe oligozoospermia.The most frequent microdeletions were in the azoospermia factor (AZF) c region (77/130, 59.2%), followed by the AZFb+c (30/130, 23.1%), AZFa (8/130, 6.2%), AZFb (7/130, 5.4%), AZFa+b+c (7/130, 5.4%), and AZFa+c (1/130, 0.7%) regions. In men with oligozoospermia, 37 (92.5%) had AZFc microdeletion. Chromosomal abnormalities were detected in 30 patients (23.1%). Higher follicle-stimulating hormone level (23.2±13.5 IU/L vs. 15.1±9.0 IU/L, p<0.001), higher luteinizing hormone level (9.7±4.6 IU/L vs. 6.0±2.2 IU/L, p<0.001), and lower testis volume (10.6±4.8 mL vs. 13.3±3.8 mL, p<0.001) were observed in azoospermia patients compared to severe oligozoospermia patients. Conclusions Y-chromosome microdeletion is a common genetic cause of male infertility. Therefore, Y-chromosome microdeletion test is recommended for the accurate diagnosis of men with azoospermia or severe oligozoospermia. Appropriate genet

OBJECTIVES: This study was designed to investigate the association between the dopamine D2 receptor (DRD2) genetic polymorphism [TaqIB (rs17294542) and TaqID (rs1800498)] and patients with schizophrenia. METHODS: TaqIB (rs17294542) and TaqID (rs1800498) polymorphism of the DRD2 gene were typed in 100 patients with schizophrenia and 109 normal controls. RESULTS: There were no statistical differences in genotype and allele distribution of TaqIB (rs17294542) and TaqID (rs1800498) genetic polymorphism between patients with schizophrenia and normal controls. CONCLUSIONS: These results suggest that the TaqIB (rs17294542) and TaqID (rs1800498) polymorphisms of the DRD2 gene may not be associated with schizophrenia in the Korean population.
Alleles ; Genotype ; Humans ; Polymorphism, Genetic ; Receptors, Dopamine D2 ; Schizophrenia

A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

BACKGROUND: Folic acid has been frequently used for hyperhomocyesteinemia in various diseases and decreases the level of homocysteine. OBJECTIVES: To assess the effect of folic acid in the level of homocysteine in epilepsy patients, and to analyze factors affecting its responsiveness and the difference of its efficacy according to methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. METHODS: Total 75 epilepsy patients with antiepileptic drugs (AEDs) therapy were included. 41 patients had normal level of homocysteine and 34 patients with hyperhomocysteinemia (> or =12 micro mol/ ) were supplemented with folic acid for 1 year. Thirty-four patients with hyperhomocyteinemia were divided into two groups according to the responsiveness of homocysteine to folic acid; decrease group (DG) and non-decrease group (NDG). RESULTS: The level of homocysteine in patients with hyperhomocysteinemia was significantly decreased after administration of folic acid, comparing with patients with normal level. DG was younger and had more male gender, shorter duration of seizure, and initial higher homocysteine level, compared to NDG (p<0.05). Patients with mutant type of MTHFR (CT+TT) had more decreased homocysteine level after supplement of folic acid, but had more increased homocysteine level without supplement of folic acid. Comparing between MTHFR genotypes, TT type had the most decreased homocysteine level than others, but there was no significance. CONCLUSION: Folic acid is useful treatment of hyperhomocysteinemia in epilepsy patients and the supplement of folic acid might be considered in patients with mutant type of MTHFR regardless of homocysteine level. The effect of folic acid supplement is greater in younger age, male sex, shorter duration of seizure, and initial higher homocysteine level.
Anticonvulsants ; Epilepsy* ; Folic Acid* ; Genotype ; Homocysteine* ; Humans ; Hyperhomocysteinemia ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) ; Seizures

PURPOSE: To evaluate the clinical and imaging findings of tubular carcinoma of the breast. MATERIALS AND METHODS: We retrospectively assessed the clinical and imaging findings of ten lesions of pathologically proven tubular carcinoma in nine patients, also evaluating the mammographic findings and categorizing the mass according to the ACR BI-RADS classification. The ultrasonographic findings were assessed in terms of shape, echogenicity, margin and posterior shadowing, and in four cases the size of nodules at physical examination was compared with the mammographic, ultrasonographic and pathologic findings. RESULTS: Nine lesions were palpable at physical examination. Bilateral tubular carcinoma of the breast was found in one patient, and unilateral single lesions in the others. There was no metastasis and no death within an average of 666 (range, 163) days of surgery. At mammography, masses were detected in six cases; the features, observed were a lobular or irregular shape (6/6), a spiculated margin (3/6) and high density (5/6). Ultrasonography showed that all unilateral lesions were hypoechoic (8/8), with a lesion height-to-width ratio of greater than 1.0 in seven of these, an ill-defined margin in sis, and posterior acoustic shadowing in seven. Mean nodule diameter was 1.17 cm at physical examination, 1.09 cm at mammography, 0.86 cm at ultrasonography and 0.80 cm at pathological evaluation. CONCLUSION: Most tubular carcinomas were palpable in spite of their small size, and their postoperative prognosis was good. Ultrasonography is useful in the detection of mammographically occult tubular carcinoma and for measuring the size of lesions.
Acoustics ; Adenocarcinoma* ; Breast* ; Classification ; Humans ; Mammography ; Neoplasm Metastasis ; Physical Examination ; Prognosis ; Retrospective Studies ; Shadowing (Histology) ; Ultrasonography

BACKGROUND: Host genetic polymorphisms in the HIV-1 co-receptor CCR5 and CCR2b and SDF-1, ligand for co-receptor CXCR4, have been known to be associated with the resistance of HIV infection and/or the delayed disease progression in HIV-infected patients. METHODS: We examined the frequencies of SDF1-3'A and CCR2b-64I alleles of 354 Koreans including 100 HIV-uninfected persons, 13 discordant spouses of HIV-infected persons, and 241 HIV-infected persons. The genotyping assays of SDF1 and CCR2b genes were carried out by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The frequencies of CCR2b-64I and SDF1-3'A alleles in Koreans were very high compared with Caucasians and blacks. Observed frequencies of CCR2b-64I and SDF1-3'A allelic variants were 25.1% and 28.7%, respectively. The frequency of the CCR2b-64I allele in Koreans was 2~4 times higher than those of other ethnic groups with the exception of Asian. The frequencies of CCR2b-64I and SDF1- 3'A genotypes did not show the significant difference between HIV-infected and uninfected Koreans. However, the prevalence of CCR2b-64I genotype of the LTNP group was about two times higher than that of the remainder group (P < 0.05). Four (45%) out of 9 LTNPs (long-term nonprogressors) showed having the SDF1-3'A allele and 7 (78%) out of 9 LTNPs carried the CCR2b-64I allele. 3 (33%) out of 9 LTNPs had both SDF1-3'A and CCR2b-64I alleles. But none of 5 RPs (rapid progressors) appeared to have both SDF1-3'A and CCR2b-64I alleles. CONCLUSION: The different genetic backgrounds in study populations may affect the disease progression and the AIDS epidemic in each country. Further studies need to define whether high frequencies of CCR2b-64I and SDF1-3'A allelic variants may affect the HIV disease progression.
African Continental Ancestry Group ; Alleles ; Asian Continental Ancestry Group ; Chemokine CXCL12* ; Disease Progression ; Ethnic Groups ; Genotype ; HIV Infections* ; HIV* ; HIV-1 ; Humans ; Polymorphism, Genetic ; Prevalence ; Spouses

BACKGROUND: Endothelial dysfunction is suggested to be one of the pathogenesis of cerebral white matter lesion (cWML). Vascular endothelial growth factor (VEGF) plays a crucial role in angiogenesis and integrity of vascular endothelial cell, and altered expression of VEGF gene induces vascular diseases including cerebrovascular diseases. The objective of this study is to investigate whether single nucleotide polymorphism (SNP) of VEGF gene confers an increased risk of cWML. METHODS: Total 337 study subjects without history of stroke were included. The presence and severity of cWML were measured on fluid-attenuated inversion recovery image. Genotypes of VEGF -2578G>A, -1154G>A, -634G>C and +936C>T were analyzed. RESULTS: Among 337 study subjects, cWML was found in 208 patients (62%), and fifty-eight cases (17%) of them had overt cWML. In univariate analysis, age, female sex and plasma total homocysteine level (tHcyt) were higher in the mild and overt cWML group than no cWML group (p<0.05). The percentage of previous history of hypertension and the value of systolic blood pressure were higher in overt cWML group than no cWML group. In univariate and logistic regression analysis, none of four tested VEGF SNPs was significantly different between control group, mild and overt cWML groups. There was no difference between plasma tHcyt levels and each VEGF SNPs in control group and cWML groups. CONCLUSIONS: In this study, old age, female sex, hypertension and plasma tHcyt were associated with cWML. However, we failed to find an association between cWML and VEGF gene polymorphism, which may indicate that genetic polymorphism of VEGF does not play a direct role in the pathogenesis of cWML.
Blood Pressure ; Endothelial Cells ; Female ; Genotype ; Homocysteine ; Humans ; Hypertension ; Logistic Models ; Plasma ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Stroke ; Vascular Diseases ; Vascular Endothelial Growth Factor A