Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of?12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.
Achondroplasia ; Arthroplasty ; Cartilage ; Congenital Abnormalities ; Early Diagnosis ; Epiphyses ; Exons ; Extracellular Matrix Proteins ; Extremities ; Family Characteristics ; Genetic Counseling ; Glycoproteins ; Hip Joint ; Humans ; Knee ; Mutation, Missense ; Osteoarthritis ; Osteochondrodysplasias ; Pedigree

Diabetic nephropathy is a common and serious complication in diabetic patients. Renal diseases other than diabetic nephropathy (non-diabetic nephropathy) can occur in diabetic patients with nephrosis. The presence of non-diabetic nephropathy is noted in type 2 diabetes patients, but no data exists for type 1 diabetes. In this report we describe the case of a 15-year-old girl with type 1 diabetes mellitus, who presented with an acute elevation of urinary microalbumin excretion, general edema, and liver enzyme elevation. She had shown microalbuminuria about 3 years earlier, as well as an uncontrolled hemoglobin A1c level, but she had no diabetic retinopathy and neuropathy. A renal biopsy was conducted, and she was diagnosed with primary focal segmental glomerulosclerosis. She was treated with corticosteroids and an angiotensin converting enzyme inhibitor.
Adolescent ; Adrenal Cortex Hormones ; Biopsy ; Diabetes Mellitus, Type 1 ; Diabetic Nephropathies ; Diabetic Retinopathy ; Edema ; Glomerulosclerosis, Focal Segmental ; Hemoglobins ; Humans ; Liver ; Nephrosis ; Peptidyl-Dipeptidase A

BACKGROUND/AIMS: Grape seed proanthocyanidin extract (GSPE) has been reported to have a beneficial effect on regulating inf lammation. However, the anti-inflammatory mechanism of GSPE remains unclear. The aim of this study was to verify the influence of GSPE on the Toll-like receptor 4 (TLR4)-mediated signaling pathway in the regulation of murine autoimmune arthritis. METHODS: Collagen-induced arthritis (CIA) was induced in dilute brown non-agouti (DBA)/1J mice. The mice were treated with GSPE (0 or 100 mg/kg) intraperitoneally. The severity of arthritis was assessed clinically, biochemically, and histologically. Immunostaining for TLR4 was performed. The expressions of TLR4 and downstream signaling molecules were analyzed by Western blot. The effect of GSPE on lipopolysaccharide (LPS)-induced TLR4 activation was also evaluated using RAW264.7 cells and fibroblast-like synoviocytes (FLSs) from patients with rheumatoid arthritis and from those with osteoarthritis. RESULTS: GSPE attenuated the clinical severity of arthritis and decreased histological damage. GSPE treatment reduced the number of TLR4-stained cells in the synovium of mice with CIA. GSPE also downregulated the expression of TLR4, myeloid differentiation factor 88 (MyD88) and phosphorylated IκBα synovial protein in CIA mice. Concurrently, GSPE inhibited the nuclear translocation of nuclear factor-κB (NF-κB) subunits (p65 and p50). LPS-induced TLR4 activation was suppressed by GSPE in human FLS as well as in murine macrophages in vitro. CONCLUSIONS: Our results demonstrated that GSPE ameliorated CIA by regulating the TLR4-MyD88-NF-κB signaling pathway.
Animals ; Arthritis* ; Arthritis, Experimental ; Arthritis, Rheumatoid ; Blotting, Western ; Humans ; In Vitro Techniques ; Macrophages ; Mice ; Myeloid Differentiation Factor 88 ; Osteoarthritis ; Synovial Membrane ; Toll-Like Receptor 4 ; Vitis*

Cesarean scar pregnancy, in which the pregnancy is implanted at the previous cesarean scar, is a very rare form of ectopic pregnancy. A delay in diagnosis can lead to uterine rupture, massive hemorrhage, and serious maternal morbidity. However, the optimal treatment is unknown. We experienced a case of viable cesarean scar pregnancy diagnosed at 13 weeks of gestation treated with uterine artery embolization and report with a brief of literatures.
Cicatrix ; Female ; Hemorrhage ; Pregnancy ; Pregnancy, Ectopic ; Uterine Artery ; Uterine Artery Embolization ; Uterine Rupture

OBJECTIVES: Previously the authors reported age-related changes in the activities of anti-oxidative enzyme activities and protein expressions in the tongues of rats. Because more information is required about relations between aging and oxidative stress and anti-oxidative enzyme efficiency, the authors investigated differences between the expression of master regulator of anti-oxidative enzymes (nuclear factor erythroid 2-related factor 2 [Nrf2]), levels of reactive oxygen species (ROS), and mitochondrial structures in the tongues of young and aged Fischer 344 rats. METHODS: Age-dependent changes in Nrf2 protein and ROS were determined by Western blotting and using chemical kits, respectively. Tongue specimens were examined by electron microscopy. The study was conducted using rats aged 7 months (young, n=8) or 22 months (old, n=8). RESULTS: Nrf2 protein levels in the tongues of aged rats were lower than in young rats. ROS levels were higher in older rats and mitochondrial structural deficits were observed their tongues. Three young rats showed moderate mitochondrial degeneration, whereas profound degeneration with mitochondrial cristae disruption, swelling, rupture, or intramitochondrial vacuole formation was observed in all 8 old rats. Notably, mitochondrial rupture was observed in 5 old rats. CONCLUSION: Antioxidant defense systems of old rats were compromised by Nrf2 deficiency, which could lead to the deleterious accumulation and release of ROS and probably mitochondrial structural deficits in aged tongue tissues.
Aging ; Animals ; Blotting, Western ; Microscopy, Electron ; Mitochondria ; NF-E2-Related Factor 2 ; Oxidative Stress ; Rats* ; Reactive Oxygen Species* ; Rupture ; Tongue* ; Vacuoles

BACKGROUND: The laryngeal mask airway Proseal (LMA-Proseal) is a renewed airway device with a modified cuff to improve the mask seal around the larynx. The classic LMA is known to have an incomplete mask seal during high positive pressure ventilation. Therefore, we examined whether the ventilation via a LMA-Proseal during laparoscopic surgery may be adequate and also observed the complications associated with a LMA-Proseal. METHODS: Thirty four patients undergoing elective gynecological laparoscopies were studied. After the insertion of a LMA-Proseal, we measured the peak airway pressure, plateau airway pressure, oropharyngeal leakage pressure, and the leakage around the neck before and after intra-abdominal CO2 insufflation. After extubation, we observed the complications, including the gastroesophageal regurgitation using a methylene blue staining method. RESULTS: The peak and plateau airway pressures after pneumoperitoneum increased significantly (P<0.05), compared with those before insufflation. However, the oropharyngeal leakage pressure was not changed and leakages around the neck were not observed. After extubation, a cuff stained with methylene blue occurred in 10 of 34 patients. Sore throat and dysphagia occurred in 8 and 4 of 34 patients, respectively. CONCLUSIONS: A LMA-Proseal during laparoscopic surgery permits adequate airway pressure, but does not protect the gastroesophageal regurgitation.
Deglutition Disorders ; Humans ; Insufflation ; Laparoscopy* ; Laryngeal Masks* ; Larynx ; Masks ; Methylene Blue ; Neck ; Pharyngitis ; Pneumoperitoneum ; Positive-Pressure Respiration ; Ventilation

Pancreatic cancer is usually unresectable upon diagnosis, and treatment aims to optimize the quality of the patient's life by managing symptoms, and, particularly, by providing adequate pain control. When the pain is refractory to opioids, interventions such as celiac plexus neurolysis (CPN) can be considered. Endoscopic ultrasound (EUS)-guided CPN has been introduced for pancreatic cancer. Reported herein is a case of a 75 year-old man with pancreatic cancer who was treated with opioids due to severe abdominal pain. EUS-guided CPN was performed for pain control, and the opioid administration was discontinued as the pain improved dramatically. However, the patient experienced opioid withdrawal symptoms, including anxiety, insomnia, nausea, and vomiting. Thus, although EUS-guided CPN successfully reduced pain in a patient undergoing such treatment and to whom opioid was administered, opioid administration should not be abruptly discontinued. Rather, the opioid dose should be reduced gradually to avoid drug withdrawal.
Abdominal Pain ; Analgesics, Opioid ; Anxiety ; Celiac Plexus ; Humans ; Nausea ; Pancreatic Neoplasms ; Sleep Initiation and Maintenance Disorders ; Substance Withdrawal Syndrome ; Vomiting

Purpose: To analyze the difference in bony pelvimetry using magnetic resonance imaging (MRI) in women who delivered vaginally and those who underwent cesarean section (CS) due to cephalopelvic disproportion (CPD). Methods: This retrospective case-control study enrolled Korean women who gave birth to their first child between 37 and 42 weeks of pregnancy and underwent pelvic MRI between January 2014 and June 2020. These women were classified into 3 groups: vaginal delivery (VD), CS due to CPD (CPD-CS), and CS due to reasons other than CPD (Other-CS). In MRI images, true conjugate (TC), obstetric conjugate (OC), mid anterior-posterior (AP) distance (MAD), outlet AP distance (OAD), ischial spine distance (ISD), ischial tuberosity distance (ITD), and pubic angle (PA) were measured. Results: In total, 392 women were enrolled. There were no significant differences in maternal height and body mass index at birth among the 3 groups. The ISD was statistically different between the VD group (106.2±6.4 mm) and the Other-CS group (110.4±8.8 mm) (p=0.014). After multiple regression analysis, short ISD (adjusted odds ratio [aOR], 0.92; 95% confidence interval [CI], 0.87-0.97; p=0.002), short MAD (aOR, 0.95; 95% CI, 0.89-0.99; p=0.047), and short ITD (aOR, 0.95; 95% CI, 0.91-0.99; p=0.019) were significantly associated with CS due to CPD. Conclusion Short ISD, MAD, and ITD, measured using MRI, are important parameters that can predict CS due to CPD. The accumulation of related research could promote the development of an excellent imaging method in terms of cost-effectiveness. Thus, it may be possible to establish a method to reduce obstetric and perinatal complications due to dystonia.

Objectives: In this study, we aimed to compare the genetic architecture of schizophrenia (SCZ) and bipolar disorder (BD) in a Korean population by analyzing polygenic risk scores (PRS) derived from large-scale psychiatric disorder genome-wide association study data, based on genetic information collected from SCZ, BD, and healthy control groups. Methods: The study included 713 Korean patients with SCZ, 1,317 with BD, 526 healthy controls. Genotyping was performed using the Korean Biobank Array. PRS-continuous shrinkage method was used to calculate the PRS. Analysis of covariance (ANCOVA) was conducted to determine the association between SCZ or BD disorder and PRS after adjusting for sex. Results: ANCOVA revealed significant differences in PRS values by diagnosis for PRS for SCZ (F=215.281, p<0.001), PRS for BD (F=13.811, p<0.001), and PRS for major depressive disorder (F=6.042, p=0.002). Post-hoc analysis showed that PRS for SCZ was highest in SCZ, followed by BD, and healthy controls. PRS for BD was elevated in both BD and SCZ compared to healthy controls. Conclusion Our study revealed quantitative differences in genetic architecture between SCZ and BD compared to healthy controls, while also suggesting a shared genetic background between the two disorders.

Objectives: In this study, we aimed to compare the genetic architecture of schizophrenia (SCZ) and bipolar disorder (BD) in a Korean population by analyzing polygenic risk scores (PRS) derived from large-scale psychiatric disorder genome-wide association study data, based on genetic information collected from SCZ, BD, and healthy control groups. Methods: The study included 713 Korean patients with SCZ, 1,317 with BD, 526 healthy controls. Genotyping was performed using the Korean Biobank Array. PRS-continuous shrinkage method was used to calculate the PRS. Analysis of covariance (ANCOVA) was conducted to determine the association between SCZ or BD disorder and PRS after adjusting for sex. Results: ANCOVA revealed significant differences in PRS values by diagnosis for PRS for SCZ (F=215.281, p<0.001), PRS for BD (F=13.811, p<0.001), and PRS for major depressive disorder (F=6.042, p=0.002). Post-hoc analysis showed that PRS for SCZ was highest in SCZ, followed by BD, and healthy controls. PRS for BD was elevated in both BD and SCZ compared to healthy controls. Conclusion Our study revealed quantitative differences in genetic architecture between SCZ and BD compared to healthy controls, while also suggesting a shared genetic background between the two disorders.