BACKGROUND: Fas is a member of the tumor necrosis factor (TNF)/nerve growth factor (NGF) receptor family. Triggering of the Fas receptor pathway by its ligand results in apoptosis. Soluble Fas consists of the extracellular region of Fas receptor and it binds to Fas ligand to inhibit the Fas and Fas ligand induced apoptosis. Recently some evidence indicates that the Fas/Fas ligand system represents an important pathway responsible for the induction of apoptosis in bone marrow CD34+ cells of patients with aplastic anemia. METHODS: We measured serum soluble Fas levels in 27 patients with aplastic anemia at diagnosis using ELISA to define the status of soluble Fas in this disorder. RESULTS: Levels of serum soluble Fas in patients with aplastic anemia were lower com-pared with that of normal healthy controls. No difference was noted in the serum soluble Fas levels according to severity of disease. No correlation was found between serum soluble Fas levels and hematologic parameters at diagnosis such as neutrophil count, lymphocyte count, platelet count and corrected reticulocyte count. CONCLUSION: These results indicate that serum soluble Fas levels are decreased in patients with aplastic anemia. Further studies recruiting more patients and measuring Fas receptor on peripheral blood lymphocyte subsets and bone marrow CD34+ cells concomitantly may be helpful to determine pathophysiology of bone marrow failure.
Anemia, Aplastic* ; Antigens, CD95 ; Apoptosis ; Bone Marrow ; Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Fas Ligand Protein ; Humans ; Lymphocyte Count ; Lymphocyte Subsets ; Neutrophils ; Platelet Count ; Reticulocyte Count ; Tumor Necrosis Factor-alpha

Objective: The purpose of this study was to investigate the status of bone health in women working in agriculture and analyze the associations between bone health and various vitamin D-related biomarkers. Methods: This observational study enrolled women working in agriculture (n = 210) and control occupations (n = 180). The concentration of serum total 25-hydroxy vitamin D [25(OH)D] was measured using the Elecsys Vitamin D Total Kit, and serum vitamin D-binding protein (VDBP) was measured by enzyme-linked immunosorbent assay (ELISA). Along with albumin, 25(OH)D and VDBP were used to calculate the concentrations of bioavailable and free 25(OH)D. Bone mineral density (BMD) and T-score were measured at lumbar 1–4 and the femur neck using dual-energy X-ray absorptiometry. To identify factors affecting BMD, log-linear model and linear regression analysis were performed for statistical analysis. Results: Agricultural women workers showed higher serum concentrations of bioavailable 25(OH)D (12.8 ± 3.7 vs. 8.7 ± 5.1 ng/mL) and lower VDBP concentrations (201.8 ± 45.0 vs. 216.0 ± 68.2 μg/ mL) than control women. The association between these two vitamin D related-biomarkers and femur neck BMD were confirmed through univariable and multivariable linear model analysis. Although lumbar BMD did not differ between groups, the agricultural group displayed a lower femur BMD and a 4.3-fold increase in the risk of osteoporosis compared with the control group. Conclusions Women working in agriculture showed lower femur BMD than the control group. Of the vitamin D-related biomarkers tested, bioavailable 25(OH)D and VDBP were associated with BMD. As bioavailable 25(OH)D levels are affected mainly by VDBP levels, VDBP may play a role in the lower femur neck BMD values observed in the agricultural group. Thus, the measurement of VDBP concentration might be considered a simple and non-invasive method for measuring bone health status.

BACKGROUND/AIMS: Obstructive jaundice is developed from the cholangiocarcinoma, biiliary tract stone, biliary benign stricture and pancreatic head cancer and is rapidly progress to cholangitis or sepsis. So early decompression, accurate diagnosis and treatment are very important. Percutaneous transhepatic choledocoscopy (PTCS) and endoscopic retrograde choledocoscopy (ERCS) have been used for evaluation of the obstructive jaundice. We performed, through the PTCS, electrohydraulic lithotripsy (EHL) for biliary tract stone rernoval, biopsy for diagnosis of biliary stric and self expandible metalic coil stent (EndocoilTM stent, Instent Co.) insertion on biliary stricture to evaluate the usefullness of PTCS in patients with obstructive jaundice. METHODS: Between Auguest 1994 and September 1995, PTCS was performed in 37 patients with obstructive jaundice. First, percutaneous transhepatic biliary drainage (PTBD) with 7Fr. drainage tube was done. Three days later, we exchainged the 7Fr. drainage tube with 16Fr.. Seven days later, through the PTCS, we performed EHL, biopsy and EndocoilTM stent insertion.
Biliary Tract ; Biopsy ; Cholangiocarcinoma ; Cholangitis ; Constriction, Pathologic ; Decompression ; Diagnosis ; Drainage ; Head and Neck Neoplasms ; Humans ; Jaundice, Obstructive ; Lithotripsy ; Sepsis ; Stents

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered first-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture failure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in first trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array comparative genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.

OBJECTIVE: Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. METHODS: We prospectively enrolled women with endometriosis (n = 16) and healthy controls (n = 16). Total serum 25-hydroxyl vitamin D (25(OH)D) concentrations were measured using an Elecsys vitamin D total kit. Levels of bioavailable and free 25(OH)D were calculated. Concentrations of VDBP were measured using a vitamin D BP Quantikine ELISA kit. DNA was extracted using a DNeasy blood & tissue kit. Two single-nucleotide polymorphisms (SNPs; rs4588 and rs7041) in GC, the gene that codes for VDBP, were analyzed using a TaqMan SNP genotyping assay kit. The functional variant of VDBP was determined based on the results of the two SNPs. RESULTS: Gravidity and parity were significantly lower in the endometriosis patients than in the control group, but serum CA-125 levels and the erythrocyte sedimentation rate were significantly higher. Total serum 25(OH)D levels in the endometriosis patients were significantly lower than in the control group. However, serum bioavailable 25(OH)D, free 25(OH)D, and VDBP levels did not differ significantly between the endometriosis and control groups. The genotypes and allele frequencies of GC were similar in both groups. CONCLUSION: Korean women with endometriosis had lower total serum 25(OH)D concentrations than controls. Neither serum VDBP concentrations nor polymorphisms in the gene coding for VDBP were associated with endometriosis. Further studies are needed to investigate the pathophysiology and clinical implications of 25(OH)D and VDBP in endometriosis.
Biological Processes ; Blood Sedimentation ; Clinical Coding ; DNA ; Endometriosis ; Enzyme-Linked Immunosorbent Assay ; Female ; Gene Frequency ; Genotype ; Gravidity ; Humans ; Parity ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Prospective Studies ; Vitamin D ; Vitamin D-Binding Protein ; Vitamins

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. RESULTS: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was 23.1±7.8 years (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. CONCLUSION: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.
Amenorrhea ; Christianity ; Chromosome Aberrations ; Diagnosis ; Female ; Follicle Stimulating Hormone ; Humans ; Infertility ; Karyotype ; Karyotyping ; Menarche ; Menstruation ; Oligomenorrhea ; Phenotype ; Retrospective Studies ; Sexual Development ; Trisomy ; Turner Syndrome

OBJECTIVE: The purpose of this study was to determine the perinatal outcome in monoamniotic twin pregnancies and to review the recently published literature about the topic. METHODS: This retrospective study examined the records of prenatally diagnosed monoamniotic twin pregnancy casese in our institution between January 1997 and April 2010. RESULTS: Among 1,112 twin pregnancies, there were 15 (1.3%) monoamnionic twins, including 2 conjoined twin pregnancies. Twelve (80%), 9 (60%), 5 (33.3%), and 4 pregnancies (26.7%) delivered after 20, 30, 32, and 34 weeks, respectively. Among 12 pregnancies that continued after 20 weeks of gestation, three cases showed one-fetal death and one, both-fetal death. The perinatal mortality rate (from 20 weeks of gestation to 28 days after birth) was 37.5%. The incidence of lethal anomalies and congenital heart anomalies was 20% and 23.3%, respectively. The mean gestational age at delivery was 31.4+/-4.53 weeks; 16 of 18 neonates (84.2%) were admitted to the neonatal intensive care unit (NICU). Three neonates expired on the first day after birth. The mean duration of the NICU stays for 13 live neonates was 32.0+/-29.3 days (range, 3 to 114 days). The main causes of perinatal deaths were preterm birth, congenital anomalies, pregnancy loss before 20 weeks, and intrauterine fetal demise that might have resulted form cord entanglement. CONCLUSION: Perinatal mortality in monoamniotic twins was still very high and the survival rate after 32 weeks of gestation is approximately one-third. Further studies are needed to improve the perinatal mortality.
Gestational Age ; Heart ; Humans ; Incidence ; Infant, Newborn ; Intensive Care, Neonatal ; Parturition ; Perinatal Mortality ; Pregnancy ; Pregnancy, Twin ; Premature Birth ; Retrospective Studies ; Survival Rate ; Twins ; Twins, Conjoined