Ovarian fibromatosis is a rare non-neoplastic condition that causes ovarian enlargement in women, typically around the age of 25. This enlargement is due to the proliferation of the collagen-producing ovarian stroma. On T2-weighted MRI, a key diagnostic feature of ovarian fibromatosis is the ‘black garland sign,’ characterized by multilobulated very low signal intensity along the ovarian surface. This condition also features the preservation of normal ovarian stroma or follicles internally. We present a case involving a 65-year-old postmenopausal female who was pathologically misdiagnosed with ovarian fibroma. However, the diagnosis was later revised to ovarian fibromatosis based on characteristic MRI findings.The case report discusses the differential diagnosis and pathologic findings associated with ovarian fibromatosis.

Ovarian fibromatosis is a rare non-neoplastic condition that causes ovarian enlargement in women, typically around the age of 25. This enlargement is due to the proliferation of the collagen-producing ovarian stroma. On T2-weighted MRI, a key diagnostic feature of ovarian fibromatosis is the ‘black garland sign,’ characterized by multilobulated very low signal intensity along the ovarian surface. This condition also features the preservation of normal ovarian stroma or follicles internally. We present a case involving a 65-year-old postmenopausal female who was pathologically misdiagnosed with ovarian fibroma. However, the diagnosis was later revised to ovarian fibromatosis based on characteristic MRI findings.The case report discusses the differential diagnosis and pathologic findings associated with ovarian fibromatosis.

Ovarian fibromatosis is a rare non-neoplastic condition that causes ovarian enlargement in women, typically around the age of 25. This enlargement is due to the proliferation of the collagen-producing ovarian stroma. On T2-weighted MRI, a key diagnostic feature of ovarian fibromatosis is the ‘black garland sign,’ characterized by multilobulated very low signal intensity along the ovarian surface. This condition also features the preservation of normal ovarian stroma or follicles internally. We present a case involving a 65-year-old postmenopausal female who was pathologically misdiagnosed with ovarian fibroma. However, the diagnosis was later revised to ovarian fibromatosis based on characteristic MRI findings.The case report discusses the differential diagnosis and pathologic findings associated with ovarian fibromatosis.

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*

Tuberculous peritonitis in pregnancy is a rare form of extrapulmonary tuberculosis that is not easily diagnosed. The clinical presentations of tuberculous peritonitis are usually non-specific and mimic those of other diseases, such as ovarian malignancy or chronic liver disease, and this non-specificity can cause diagnostic delays and complications. The authors report the case of a 31-year-old primigravida woman who presented with uncontrolled fever, dyspnea, elevated liver enzymes, and mild abdominal distension at 13+2 weeks of gestation. At 14+2 weeks, a therapeutic abortion was conducted and tuberculous peritonitis was confirmed by laparoscopic excisional biopsy of peritoneal nodules and histopathologic examination. The patient recovered on antituberculosis therapy and abdomen and chest follow up radiographic findings have confirmed improvement.
Abdomen ; Abortion, Therapeutic ; Adult ; Biopsy ; Dyspnea ; Female ; Fever ; Follow-Up Studies ; Humans ; Liver ; Liver Diseases ; Peritonitis ; Peritonitis, Tuberculous* ; Pregnancy ; Pregnancy Trimester, First* ; Pregnancy* ; Thorax ; Tuberculosis

BACKGROUND AND PURPOSE: To compare the efficacy and safety of antiplatelet agents for the secondary prevention of ischemic stroke based on cytochrome P450 2C19 (CYP2C19) polymorphisms. METHODS: This study was a prospective, multicenter, randomized, parallel-group, open-label, blind genotype trial. First time non-cardiogenic ischemic stroke patients were enrolled and screened within 30 days. Participants were randomized to receive either triflusal or clopidogrel for secondary stroke prevention. The primary outcome was the time from randomization to first recurrent ischemic stroke or hemorrhagic stroke. RESULTS: The required sample size was 1,080 but only 784 (73%) participants were recruited. In patients with a poor CYP2C19 genotype for clopidogrel metabolism (n=484), the risk of recurrent stroke among those who received triflusal treatment was 2.9% per year, which was not significantly different from those who received clopidogrel treatment (2.2% per year; hazard ratio [HR], 1.23; 95% confidence interval [CI], 0.60–2.53). In the clopidogrel treatment group (n=393), 38% had good genotypes and 62% poor genotypes for clopidogrel metabolism. The risk of recurrent stroke in patients with a good CYP2C19 genotype was 1.6% per year, which was not significantly different from those with a poor genotype (2.2% per year; HR, 0.69; 95% CI, 0.26–1.79). CONCLUSIONS: Whilst there were no significant differences between the treatment groups in the rates of stroke recurrence, major vascular events, or coronary revascularization, the efficacy of antiplatelet agents for the secondary prevention of stroke according to CYP2C19 genotype status remains unclear.
Cytochrome P-450 CYP2C19 ; Cytochrome P-450 Enzyme System* ; Cytochromes* ; Genotype ; Humans ; Metabolism ; Platelet Aggregation Inhibitors ; Prospective Studies ; Random Allocation ; Recurrence ; Sample Size ; Secondary Prevention* ; Stroke*

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the effect of pulmonary valve replacement (PVR) on exercise capacity and determine cardiopulmonary exercise (CPEX) parameters associated with improvement in right ventricle (RV) function. SUBJECTS AND METHODS: We retrospectively analyzed CPEX and magnetic resonance imaging parameters in a total of 245 patients who underwent PVR from January 1998 to October 2015. In addition, we analyzed the characteristics of the patients who showed improved exercise capacity after PVR. RESULTS: Twenty-eight patients met the inclusion criteria for the study. CPEX parameters after PVR showed no significant changes in all patients. However, baseline predicted peak oxygen uptake (VO2(peak)) (%) value was significantly lower in patients with significant improvement in exercise capacity after PVR, as compared to patients who showed decreased exercise capacity after PVR (60.83±10.28 vs. 75.81±13.83) (p=0.003). In addition, patients with improved exercise capacity showed a positive correlation between the change of right ventricular ejection fraction (RVEF) (%) and the change of anaerobic threshold (r=0.733, p=0.007); whereas, patients with decreased exercise capacity showed a negative correlation between the change of RVEF (%) and the change of predicted VO2(peak) (%) (r=−0.575, p=0.020). CONCLUSION: The importance of predicted VO2(peak) (%) in evaluating exercise capacity differentiated from other CPEX variables. The change of anaerobic threshold and predicted VO2(peak) (%) might be a useful predictor of the change in RV function after PVR.
Anaerobic Threshold ; Exercise Test ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Oxygen ; Pulmonary Valve* ; Retrospective Studies ; Stroke Volume ; Tetralogy of Fallot*

PURPOSE: Generally, aspirin is used as a protective agent against thrombogenic phenomenon after pulmonary valve replacement (PVR) using a bioprosthetic valve. However, the appropriate duration of aspirin use is unclear. We analyzed the impact of postoperative duration of aspirin use on the longevity of bioprosthetic pulmonary valves in patients who underwent repair for congenital heart diseases. METHODS: We retrospectively reviewed the clinical data of 137 patients who underwent PVR using a bioprosthetic valve between January 2000 and December 2003. Among these patients, 89 were included in our study and divided into groups I (≤12 months) and II (>12 months) according to duration of aspirin use. We analyzed echocardiographic data from 9 to 11 years after PVR. Pulmonary vale stenosis and regurgitation were classified as mild, moderate, or severe. RESULTS: The 89 patients consisted of 53 males and 36 females. Their mean age was 14.3±8.9 years (range, 2.6–48 years) and body weight was 37.6±14.7 kg (range, 14–72 kg). The postoperative duration of aspirin use was 7.3±2.9 months in group I and 32.8±28.4 months in group II. However, no significant difference in sex ratio, age, body weight, type of bioprosthetic valve, and number of early redo-PVRs. In the comparison of echocardiographic data about 10 years later, no significant difference in pulmonary valve function was found. The overall freedom rate from redo-PVR at 10 years showed no significant difference (P=0.498). CONCLUSION: Our results indicated no benefit from long-term aspirin medication (>6 months) in patients who underwent PVR with a bioprosthetic valve.
Aspirin* ; Body Weight ; Constriction, Pathologic ; Echocardiography ; Female ; Freedom ; Heart Defects, Congenital* ; Heart Diseases ; Humans ; Longevity* ; Male ; Pulmonary Valve* ; Retrospective Studies ; Sex Ratio

Spontaneous complete chorioamniotic membrane separation (CMS) without invasive fetal procedure is extremely rare and associated with adverse perinatal outcomes. A woman with complete CMS which was detected at the 21 weeks' gestation. She did not take any fetal invasive procedures before the diagnosis. At 27 weeks' gestation, an emergency Caesarean section was performed because of fetal distress. The defect of the uterine muscle was detected on the fundus. The baby has grown well without any morbidity. This is the first reported case of complete CMS relative to uterine scar. And we suggest that the pregnancy can be maintained successfully if there is no fetal abnormality when complete CMS is detected on ultrasound.
Animals ; Cesarean Section ; Cicatrix* ; Diagnosis ; Emergencies ; Female ; Fetal Distress ; Humans ; Live Birth* ; Membranes* ; Mice ; Myometrium ; Pregnancy ; Ultrasonography

Uterine prolapse during pregnancy is an uncommon condition. It can cause preterm labor, spontaneous abortion, fetal demise, maternal urinary complication, maternal sepsis and death. We report the case of uterine prolapse in a 32-year-old healthy primigravid woman. She had no risk factors associated with uterine prolapse. She was conservatively treated, resulting in a successful vaginal delivery. This report is a very rare case of uterine prolapse in a young healthy primigravid woman, resulting in a successful vaginal delivery.
Abortion, Spontaneous ; Adult ; Female ; Humans ; Obstetric Labor, Premature ; Pregnancy ; Risk Factors ; Sepsis ; Uterine Prolapse*