No abstract available.
De Lange Syndrome*

No abstract available.
Anemia, Hemolytic* ; Humans ; Infant, Newborn ; Infant, Premature* ; Vitamin E* ; Vitamins*

Turner syndrome with abnormalities of X chromosome is generally characterized by gonadal dysgenesis causing premature ovarian failure, primary and secondary amenorrhea. Premature ovarian failure is often caused by X chromosome aberrations. It has been shown that gross X chromosome abnormalities such as monosomy X usually result in primary amenorrhea and poor pubertal development, whereas mild X chromosome abnormalities such as partial X deletions usually lead to secondary amenorrhea and fairly good pubertal development. Fertility has been reported in several patients with relatively small Xq deletions before the onset of premature ovarian failure, and the X chromosome abnormality is often inherited by offspring. We describe a 46,X,del(X)(q26) female with normal pregnancy, in whom same karyotype was found in the fetus by amniocentesis. We report this case with brief review of related literatures.
Amenorrhea ; Amniocentesis ; Female ; Fertility ; Fetus* ; Gonadal Dysgenesis ; Humans ; Karyotype* ; Pregnancy ; Pregnant Women* ; Primary Ovarian Insufficiency ; Turner Syndrome ; X Chromosome

No abstract available.
Erythrocyte Membrane* ; Erythrocytes* ; Hydroxyl Radical* ; Lipid Peroxidation* ; Macrophages, Alveolar* ; Mineral Fibers*

Follicular bronchiolitis is an uncommon bronchiolar disorder that is characterized by the presence of hyperplastic lymphoid follicles with reactive germinal centers. The condition is associated with connective tissue diseases such as rheumatoid arthritis, Sjögren’s syndrome, and immunodeficiency disorders. A 56-year-old man with rheumatoid arthritis was admitted to hospital with a progressively enlarging pulmonary nodule in the left upper lobe. A follow-up contrast tomography scan showed that the nodule had increased in size from 4.2 mm to 6.3 mm over a 3 month period. An open lung biopsy was performed to establish a definite pathologic diagnosis of the pulmonary nodule, which was suspected to be a lung malignancy. The nodule was diagnosed as follicular bronchiolitis based on the histopathology findings. We describe a patient with follicular bronchiolitis that was confirmed by an open lung biopsy, and is believed to have had rheumatoid involvement.
Arthritis, Rheumatoid* ; Biopsy ; Bronchiolitis* ; Connective Tissue Diseases ; Diagnosis ; Follow-Up Studies ; Germinal Center ; Humans ; Lung ; Middle Aged ; Solitary Pulmonary Nodule

Avian influenza (AI) virus infects both animal and human. Low pathogenic AI virus infections (some H7 and H9 subtypes) have been reported all over the world and pose a potential threat to the poultry industry. Vaccination is the most effective way to prevent virus infection. However, vaccination makes it difficult to differentiate between vaccinated chickens and infected chickens. In order to differentiate vaccinated chickens from naturally infected chickens, we adopted synthetic peptide-based enzyme-linked immunosorbent assay (ELISA) using the peptide sequences from nonstructural protein 1 (NS1) of H9N2. Five synthetic peptides were designed using Protein Variability Sever (http://imed.med.ucm.es/PVS/) and synthesized. NS1-1 ~ NS1-4 peptides failed to detect serum antibodies from both vaccinated and naturally infected chickens. NS1-5 peptide from the C-terminal NS1 protein detected serum antibody from naturally infected chickens but not vaccinated chickens. These results imply that NS1-5 peptide may be a useful tool to differentiate naturally infected chicken from vaccinated chicken as being used in the synthetic peptide-based ELISA.
Animals ; Antibodies ; Chickens ; Enzyme-Linked Immunosorbent Assay ; Humans ; Influenza in Birds ; Peptides ; Poultry ; Vaccination ; Viruses

Avian influenza (AI) is an infectious, low pathogenic virus that is endemic all over the world and poses a potential threat to the poultry industry. Vaccination is a widely used effective method to prevent avian influenza virus. Here we employed a comparative proteomics approach [two-dimensional electrophoresis (2-DE) and matrix assisted laser desorption ionization-time of flight (MALDI-TOF)] to characterize proteome in the sera from the specific pathogen free (SPF) chickens, the vaccinated chickens, and the naturally infected chickens. We identified total 58 proteins that were differentially expressed in the sera of three groups. Among them ovotransferrin and vitamin D-binding protein were more expressed in the sera of naturally infected chickens compare with other groups. Our results suggested that the level of these two proteins in the serum may help to discriminate the naturally infected chicken from the vaccinated chicken.
Animals ; Chickens ; Conalbumin ; Electrophoresis ; Influenza in Birds ; Poultry ; Proteins ; Proteome ; Proteomics ; Specific Pathogen-Free Organisms ; Vaccination ; Viruses ; Vitamin D-Binding Protein

Basaloid follicular hamartoma (BFH), uncommon rare benign neoplasm connected to the adnexal structures, presents with multiple clinical manifestations that can develop into basal cell carcinoma. BFH may be congenital or acquired, and the congenital form can be further divided into the generalized and unilateral type, and the acquired form may present as localized and solitary lesions. Congenital, generalized BFH is associated with systemic diseases such as alopecia, cystic fibrosis, hypohidrosis, and myasthenia gravis. In contrast, sporadic cases are observed as unilateral or localized lesions. BFH shows thick cords and thin strands of anastomosing basaloid proliferations that arise from hair follicles and are enclosed by loose fibrous stroma. Here, we report a 70-year-old man with an acquired, solitary form of BFH.
Aged ; Alopecia ; Carcinoma, Basal Cell ; Cystic Fibrosis ; Hair Follicle ; Hamartoma ; Humans ; Hypohidrosis ; Myasthenia Gravis

PURPOSE: The International Prostate Symptom Score (IPSS) is generally self- administrated; however, it is doubtful that the self-administrated IPSS score correctly reflects patients' symptoms; therefore, the difference in the IPSS self-administrated score and physician-interviewed patients was studied. MATERIALS AND METHODS: A total of 202 patients completed two IPSS questionnaires during the same office visit, one by self-administration and the other by physician-interview, at two medical centers, one located in an urban area and the other in a rural area. The mean total symptom score and the score for each question, and the quality of life score were compared between the two modes of administration. A multi-logistical regression analysis was performed to identify differences due to the effects of age, the order of administration, location and educational level. RESULTS: The mean total symptom score and quality of life score were higher in the self-administrated than physician-interviewed group (14.16 vs. 13.07, p=0.001, 3.27 vs. 3.2, p=0.090). The residual sense (2.03 vs. 1.97, p=0.20), frequency (2.07 vs. 1.97, p=0.026), interruption (1.83 vs. 1.61, p=0.002), urgency (1.89 vs. 1.55, p=0.001), weak stream (2.74 vs. 2.60, p=0.042), hesitancy (1.77 vs. 1.59, p=0.005) and nocturia (1.82 vs. 1.77, p=0.12) were also higher in the self-administrated group. The multi- logistical regression analysis revealed statistically significant differences in relation to age and location. CONCLUSIONS: The self-administrated IPSS score was higher than the physician-interview score, especially in relation to an older age and an urban location. Therefore, active intervention should be considered during the administration of the IPSS, especially for old aged patients living in urban areas.
Humans ; Lower Urinary Tract Symptoms* ; Nocturia ; Office Visits ; Prostate* ; Quality of Life ; Questionnaires ; Rivers ; Urinary Tract

Alcohol influences the neuroadaptation of brain cells where receptors and enzymes like protein kinase C (PKC) exist. Naltrexone acts on opioid receptors. However, other mechanisms of action remain unknown. We prepared SH-SY5Y neuroblastoma cells, and fed them with 150 mM ethanol for 72 h followed by treatment with naltrexone for 24 h. We performed microarray analysis and reverse transcriptase-polymerase chain reaction. Our results showed that PKC epsilon increased 1.90 times and showed an overall decreasing pattern as time increased. Phosphorylated ERK also increased 2.0 times according to the change of PKC epsilon. Integrin alpha7 increased 2.32 times and showed an increasing pattern as time increased. In conclusion, naltrexone influences PKC epsilon neuronal signaling system and endothelial adhesion molecule integrin alpha7 in addition to the well-known opioid system.
Antigens, CD/*metabolism ; Cell Line, Tumor ; Comparative Study ; DNA, Complementary/genetics ; Humans ; Integrin alpha Chains/*metabolism ; Naltrexone/*pharmacology ; *Neuroblastoma/enzymology/metabolism/pathology ; Oligonucleotide Array Sequence Analysis ; Protein Kinase C-epsilon/*metabolism ; Research Support, Non-U.S. Gov't ; Reverse Transcriptase Polymerase Chain Reaction ; Time Factors