Essential thrombocythemia (ET) is characterized by most cases in which platelet counts exceed 1 million/µL. ET is usually no symptoms during non-pregnancy, but arterial and venous thrombosis and hemorrhage may develop in pregnancy. Pregnancy in these patients is associated with many complications in both pregnant women and fetuses such as recurrent abortion, intrauterine fetal growth restriction, preterm delivery, preeclampsia, and stillbirth. In these patients, aspirin, low-molecular-weight heparin (LMWH), and interferon alpha (INF-α) are recommended during pregnancy. We report a case of four consecutive abortions despite being treated with INF-α, low dose aspirin, and LMWH in patient with ET.
Abortion, Habitual* ; Aspirin ; Female ; Fetal Development ; Fetus ; Hemorrhage ; Heparin, Low-Molecular-Weight ; Humans ; Interferon-alpha ; Platelet Count ; Pre-Eclampsia ; Pregnancy ; Pregnant Women ; Stillbirth ; Thrombocythemia, Essential* ; Venous Thrombosis

Production of high affinity antibodies for antigens is a critical component for the immune system to fight off infectious pathogens. However, it could be detrimental to our body when the antigens that B cells recognize are of self-origin. Follicular helper T, or Tfh, cells are required for the generation of germinal center reactions, where high affinity antibody-producing B cells and memory B cells predominantly develop. As such, Tfh cells are considered as targets to prevent B cells from producing high affinity antibodies against self-antigens, when high affinity autoantibodies are responsible for immunopathologies in autoimmune disorders. This review article provides an overview of current understanding of Tfh cells and discusses it in the context of animal models of autoimmune diseases and allograft rejections for generation of novel therapeutic interventions.
Allografts* ; Antibodies ; Autoantibodies ; Autoantigens ; Autoimmune Diseases* ; Autoimmunity ; B-Lymphocytes ; Germinal Center ; Immune System ; Memory ; Models, Animal

Background: Depression and anxiety are prevalent and can cause suffering in patients with Parkinson’s disease (PD). The Korean version of the Hospital Anxiety and Depression Scale (K-HADS) has been widely used to assess depression and anxiety symptoms in Korean patient with PD. The present study aimed to assess the reliability and validity of the K-HADS using Rasch measurement analysis. Methods: A total of 106 PD patients (54 males, 52 females) who met the diagnostic criteria of the United Kingdom Brain Bank were recruited. Unidimensionality, the Rasch model fit, response category functioning, patient-item distribution, and the separation reliability of the K-HADS depression (K-HADS-D) and anxiety (K-HADS-A) subscales were statistically evaluated. Results: The mean K-HADS-D and K-HADS-A scores were 8.08±4.69 (mean±standard deviation) and 5.44±4.18, respectively. Cronbach’s α coefficients of the K-HADS-D and K-HADS-A were 0.82 and 0.83. The Rasch analysis revealed that the K-HADS-D and K-HADS-A showed unidimensionality and no disordered functioning was observed in the 4-point polytomous scale. However, both K-HADS-D and K-HADS-A exhibited suboptimal separation reliability, while the K-HADS-A showed inadequate scale targeting with floor effect. Conclusions The present study comprises the first validation of the K-HADS using the Rasch measurement model, suggesting that the K-HADS-D and K-HADS-A are clinimetrically acceptable and reliable scales for use in Korean patients with PD. However, the moderate person separation indices implicate the relatively low discriminatory ability of the K-HADS in our study patients.

As chorion and amnion fusion usually occurs between 14 and 16 weeks of gestation, sonographic identification of chorion and amniotic membrane separation is a normal finding before 14 weeks. However, persistent separation after 16 weeks of gestation is considered rare and abnormal findings. Complete chorioamniotic membrane separation (CMS) may occur spontaneously, but has also been described as a complication of all invasive intrauterine procedures, including amniocentesis. Complete CMS have a significant morbidity and mortality due to intrauterine fetal death, cord complications, and preterm delivery. Aggressive treatment with hospitalization is necessary. We now report 2 cases of complete CMS identified by prenatal ultrasound; 1 in spontaneous complete CMS diagnosed at 24 weeks of gestation, and health premature child was born at 29+3 weeks of gestation, who was alive and well at present; 1 in complete CMS diagnosed at 21 weeks of gestation after amniocentesis, and fetal demise at 24 weeks of gestation due to cord strangulation by an amniotic band. We experienced two cases of complete CMS and report with a brief review of literatures.
Amniocentesis ; Amnion ; Amniotic Band Syndrome ; Child ; Chorion ; Fetal Death ; Hospitalization ; Humans ; Infant, Newborn ; Membranes ; Pregnancy

Although excessive arteriovenous fistula blood flow may be a factor in the development of high-output cardiac failure, this diagnosis is easily over-looked. Surgical reduction of fistula blood flow can improve the condition. We here report a case of high-output cardiac failure due to excessive arterio-venous fistula blood flow in a hemodialysis patient. A 51-year-old man who had been treated with hemodialysis since 5 years ago was admitted for increasing cardiac failure. Echocardiographic evaluation of cardiac output and duplex measurement of the fistula confirmed the diagnosis of high-output cardiac failure due to excessive arteriovenous fistula blood flow. After surgical closure of the fistula, the signs and symptoms of cardiac failure subsequently subsided and both systolic and diastolic dimension of left ventricle much decreased.
Arteriovenous Fistula* ; Cardiac Output ; Diagnosis ; Echocardiography ; Fistula ; Heart Failure* ; Heart Ventricles ; Humans ; Middle Aged ; Renal Dialysis*

Collision tumor means the coexistence of two adjacent, but histologically distinct tumors without histologic admixture in the same tissue and is rare incidence involving ovary. Because of their incidence of occurrence, benign cystic teratomas often occur coincidentally with other abnormalities of the ovary. Most common histologic combination of collision tumor in the ovary is coexistence of teratoma with mucinous tumors. But its association with serous tumor has been noted rare and incidence is unknown. We have experienced a case laparoscopic treatment of a huge serous cystadenoma combined with ovarian benign cystic teratoma in right ovary, and report it with a brief review of literature.
Cystadenoma, Serous ; Dermoid Cyst ; Female ; Incidence ; Laparoscopy ; Mucins ; Ovary ; Teratoma

Alterations in sulfur amino acid metabolism are associated with an increased risk of a number of common late-life diseases, which raises the possibility that metabolism of sulfur amino acids may change with age. The present study was conducted to understand the age-related changes in hepatic metabolism of sulfur amino acids in 2-, 6-, 18- and 30-month-old male C57BL/6 mice. For this purpose, metabolite profiling of sulfur amino acids from methionine to taurine or glutathione (GSH) was performed. The levels of sulfur amino acids and their metabolites were not significantly different among 2-, 6- and 18-month-old mice, except for plasma GSH and hepatic homocysteine. Plasma total GSH and hepatic total homocysteine levels were significantly higher in 2-month-old mice than those in the other age groups. In contrast, 30-month-old mice exhibited increased hepatic methionine and cysteine, compared with all other groups, but decreased hepatic S-adenosylmethionine (SAM), S-adenosylhomocysteine and homocysteine, relative to 2-month-old mice. No differences in hepatic reduced GSH, GSH disulfide, or taurine were observed. The hepatic changes in homocysteine and cysteine may be attributed to upregulation of cystathionine β-synthase and down-regulation of γ-glutamylcysteine ligase in the aged mice. The elevation of hepatic cysteine levels may be involved in the maintenance of hepatic GSH levels. The opposite changes of methionine and SAM suggest that the regulatory role of SAM in hepatic sulfur amino acid metabolism may be impaired in 30-month-old mice.
Aging ; Amino Acids, Sulfur ; Animals ; Child, Preschool ; Cystathionine ; Cysteine ; Down-Regulation ; Glutathione ; Homocysteine ; Humans ; Infant ; Male* ; Metabolism* ; Metabolomics ; Methionine ; Mice* ; Plasma ; S-Adenosylhomocysteine ; S-Adenosylmethionine ; Sulfur* ; Taurine ; Up-Regulation

Background & Objective: Recently, mutations in PRRT2 have been found to cause paroxysmal kinesigenic dyskinesia (PKD). However, only several reports have described the detailed clinical features of patients with the PRRT2 mutation compared to those without the mutation. Furthermore, 16p11.2 microdeletions including PRRT2 also have been reported in patients with PKD; however, it is unknown to what extent the PRRT2 deletion contributes to the development of PKD. Methods: We performed mutation screening in 29 Korean patients with PKD analyzing the sequence and gene dosage of PRRT2 and their clinical features. Results: Overall, genetic abnormalities in PRRT2 were identified in 7 patients (24%): 3 from the 6 familial cases (50%) and 4 from the 23 sporadic cases (17%). The previously reported c.649dupC and c.649delC were found in 5 and 1 patient, respectively, and a novel mutation c.323_324delCA was found in 1 patient. No patients had deletions involving the PRRT2 gene. Compared with the mutation-negative cases, the age of PKD onset was earlier in the mutation-positive cases. However, there were no differences in the other clinical features. A dystonia-only phenotype was reported only in the mutation-negative cases. Contrary to common belief that patients with PKD have an excellent response to carbamazepine, 3 mutation-positive patients taking carbamazepine reported only a partial response. Conclusions: PRRT2 is a common causative gene for Korean patients with PKD. Our results show that the incomplete response to carbamazepine does not exclude the PRRT2 mutation.

OBJECTIVE: Musculoskeletal problems are more common in patients with Parkinson's disease (PD) than in normal elderly, but the impact of musculoskeletal problems on health-related quality of life (HRQoL) in patients with PD is unknown. METHODS: Four hundred consecutive patients with PD were enrolled for the evaluation of musculoskeletal problems and HRQoL. HRQoL was assessed by the 36-Item Short Form Health Survey, which comprised physical health and mental health. RESULTS: Of the total patients, 265 patients had musculoskeletal problems, and 135 patients did not have musculoskeletal problems. Patients with musculoskeletal problems reported lower levels of HRQoL in terms of physical health than did patients without musculoskeletal problems (p < 0.05). In women, all components of physical health were lower in patients with musculoskeletal problems than in patients without musculoskeletal problems (p < 0.05). Meanwhile, in men, only the bodily pain score of physical health was lower in patients with musculoskeletal problems than in patients without musculoskeletal problems. Mental health and physical health were negatively correlated with depression, Unified Parkinson's Disease Rating Scale I & II scores, and pain severity from musculoskeletal problems, in that order (p < 0.01 for all). CONCLUSION: These results suggest that musculoskeletal problems in patients with PD affect HRQoL significantly, mainly in terms of physical health rather than mental health and especially in women rather than men. Musculoskeletal problems should not be overlooked in the care of patients with PD.
Aged ; Depression ; Female ; Health Surveys ; Humans ; Male ; Mental Health ; Parkinson Disease ; Quality of Life

BACKGROUND: Renal tubulointerstitial fibrosis is a common feature of the final stage of nearly all cause types of chronic kidney disease. Although classic peroxisome proliferator-activated receptor γ (PPARγ) agonists have a protective effect on diabetic nephropathy, much less is known about their direct effects in renal fibrosis. This study aimed to investigate possible beneficial effects of lobeglitazone, a novel PPARγ agonist, on renal fibrosis in mice. METHODS: We examined the effects of lobeglitazone on renal tubulointerstitial fibrosis in unilateral ureteral obstruction (UUO) induced renal fibrosis mice. We further defined the role of lobeglitazone on transforming growth factor (TGF)-signaling pathways in renal tubulointerstitial fibrosis through in vivo and in vitro study. RESULTS: Through hematoxylin/eosin and sirius red staining, we observed that lobeglitazone effectively attenuates UUO-induced renal atrophy and fibrosis. Immunohistochemical analysis in conjunction with quantitative reverse transcription polymerase chain reaction and Western blot analysis revealed that lobeglitazone treatment inhibited UUO-induced upregulation of renal Smad-3 phosphorylation, α-smooth muscle actin, plasminogen activator inhibitor 1, and type 1 collagen. In vitro experiments with rat mesangial cells and NRK-49F renal fibroblast cells suggested that the effects of lobeglitazone on UUO-induced renal fibrosis are mediated by inhibition of the TGF-β/Smad signaling pathway. CONCLUSION: The present study demonstrates that lobeglitazone has a protective effect on UUO-induced renal fibrosis, suggesting that its clinical applications could extend to the treatment of non-diabetic origin renal disease.
Actins ; Animals ; Atrophy ; Blotting, Western ; Collagen Type I ; Diabetic Nephropathies ; Fibroblasts ; Fibrosis* ; In Vitro Techniques ; Mesangial Cells ; Mice* ; Peroxisomes* ; Phosphorylation ; Plasminogen Activator Inhibitor 1 ; Polymerase Chain Reaction ; Rats ; Renal Insufficiency, Chronic ; Reverse Transcription ; Transforming Growth Factor beta ; Transforming Growth Factors ; Up-Regulation ; Ureter* ; Ureteral Obstruction*