OBJECTIVE: The purpose of this study was to determine the frequency and distribution of cytogenetically abnormal miscarriages in couples with spontaneous abortions (SA) or recurrent miscarriages (RM). METHODS: Karyotyping of specimens from 164 abortuses with SA and 86 abortuses with RM was successfully performed according to the standard cytogenetic methods using G-banding technique. RESULTS: Among the total 164 cases of SA group, 81 (49.4%) were euploid and the rest (83, 50.6%) showed chromosomal abnormalities. In RM(> or =2) and RM(> or =3) group, 31 (36.0%)/27 (34.6%) cases were euploid and 55 (64.0%)/51(65.4%) cases were abnormal, respectively. A statistically significant difference was found in the rate of cytogenetic abnormality between SA and RM groups (P<0.05). In all groups, women with advanced maternal age (> or =35 years) had a higher rate of chromosome anomalies compared with women younger than age 35 (normal:abnormal = 32.4%:67.6% for > or =35 years and 53.8%:46.2% for <35 years in SA; 19.2%:80.8%/21.7%:78.3% for > or =35 years and 43.3%:56.7%/40.0%:60.0% for <35 years in RM(> or =2) and RM(> or =3), respectively; P<0.05). In SA group, an increase of normal karyotypes was noted with increased gestational age (<10 week, 38.0%; 10-15 week, 53.5%; 16-20 week, 65.7%). In RM group, most of cases were in <10 week and the frequency of trisomies with chromosomes 1 to 10 were increased compared with that of SA. CONCLUSION: There was a statistically significant difference in the frequency and distribution of chromosomal abnormalities between SA and RM groups. Our results will provide useful information for diagnosis and genetic counseling of patients with SA or RM.
Abortion, Habitual* ; Abortion, Spontaneous* ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics* ; Diagnosis* ; Family Characteristics ; Female ; Genetic Counseling ; Gestational Age ; Humans ; Karyotype ; Karyotyping ; Maternal Age ; Pregnancy ; Trisomy

Pseudo-kaposi's sarcoma is a vasoproliferative disorder that may resemble Kaposi's sarcoma, clinically and histologically. In most cases, it has been associated with congenital or iatrogenic arteriovenous fistula and chronic venous insuffiency. We present a 36-year-old male patient with pseudo-Kaposi's sarcoma caused by a deed vein thrombosis in the absence of any detectable underlying etiologic factors.
Adult ; Arteriovenous Fistula ; Humans ; Male ; Sarcoma ; Sarcoma, Kaposi* ; Thrombosis ; Veins ; Venous Thrombosis*

Objectives: This study aimed to investigate the nutritional status and dietary behavior of adolescents from North Korean refugee (NKR) families residing in South Korea (SK), who are known to be at a higher risk of malnutrition due to their lower socioeconomic status and facing other psychological challenges. Methods: A total of 178 adolescents (91 males and 87 females) from NKR families were included in the analysis, and their demographic details such as age, birthplace, parental nationality, and duration of their settlement in SK were collected through questionnaires. Anthropometric measurements were also taken to determine their growth and nutritional status according to the 2017 Korean National Growth Charts for children and adolescents. The study used the Nutrition Quotient for Korean Adolescents (NQ-A) questionnaire to assess the dietary behavior of the participants. Results: Approximately 11.8% and 10.1% of participants were identified with malnutrition and obesity, respectively. The total mean score for the NQ-A was 50.1. The mean scores for the individual factors of balance, diversity, moderation, environment, and practice were 49.2, 44.7, 43.8, 51.2, and 61.5, respectively. Approximately 47.2% of participants had a low NQA grade. However, there was no significant difference in the NQ-A scores according to their nutritional status or duration of time in SK. Conclusions Adolescents from NKR families exhibited both malnutrition and obesity.However, their dietary behavior, as assessed using the NQ-A, did not vary with their nutritional status. The unique challenges and related dietary behavior of North Korean adolescent refugees should be taken into consideration, when developing targeted strategies for nutritional education and health management programs.

Inhibition of Rho-associated coiled coil-containing kinase (ROCK) has been reported to promote differentiation of neuronal cells. Here, we examined the effect of Y-27632, a ROCK inhibitor, on the outgrowth of neurites in PC12 cells. Y-27632 caused a rapid induction of neurite outgrowth in PC12 cells in a time-dependent manner. The neurite outgrowth, triggered by Y-27632, was accompanied by Rac1 activation, and was attenuated by Rac1 inhibitor NSC23766, in a concentration-dependent manner. Y-27632 also induced an increase in the production of reactive oxygen species (ROS). Pretreatment with N-acetylcysteine, an ROS scavenger, inhibited the ROS generation and neurite outgrowth in response to Y-27632. These results indicate that the activation of Rac1 and the generation of ROS contribute to the neurite outgrowth triggered by Y-27632 in PC12 cells.
Acetylcysteine ; Animals ; Neurites* ; Neurons ; PC12 Cells* ; Phosphotransferases ; Reactive Oxygen Species*

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.
Adult ; Birth Weight ; Choroid Plexus* ; Choroid* ; Extremities* ; Female ; Fetus ; Humans ; Intelligence ; Karyotype ; Karyotyping ; Male* ; Nuchal Translucency Measurement* ; Parents ; Parturition ; Pregnancy ; Ultrasonography

The interleukin-1 receptor antagonist (IL-1RA) is a potential stroke treatment candidate. Intranasal delivery is a novel method thereby a therapeutic protein can be penetrated into the brain parenchyma by bypassing the blood-brain barrier. Thus, this study tested whether intranasal IL-1RA can provide neuroprotection and brain penetration in transient cerebral ischemia. In male Sprague-Dawley rats, focal cerebral ischemia was induced by middle cerebral artery occlusion (MCAO) for 1 h. The rats simultaneously received 50 mg/kg human IL-1RA through the intranasal (IN group) or intraperitoneal route (IP group). The other rats were given 0.5 mL/kg normal saline (EC group). Neurobehavioral function, infarct size, and the concentration of the administered human IL-1RA in the brain tissue were assessed. In addition, the cellular distribution of intranasal IL-1RA in the brain and its effect on proinflammatory cytokines expression were evaluated. Intranasal IL-1RA improved neurological deficit and reduced infarct size until 7 days after MCAO (p<0.05). The concentrations of the human IL-1RA in the brain tissue 24 h after MCAO were significantly greater in the IN group than in the IP group (p<0.05). The human IL-1RA was confirmed to be co-localized with neuron and microglia. Furthermore, the IN group had lower expression of interleukin-1β and tumor necrosis factor-α at 6 h after MCAO than the EC group (p<0.05). These results suggest that intranasal IL-1RA can reach the brain parenchyma more efficiently and provide superior neuroprotection in the transient focal cerebral ischemia.
Administration, Intranasal* ; Animals ; Blood-Brain Barrier ; Brain ; Brain Ischemia* ; Cytokines ; Humans ; Infarction, Middle Cerebral Artery ; Interleukin 1 Receptor Antagonist Protein ; Interleukin-1* ; Ischemic Attack, Transient ; Male ; Methods ; Microglia ; Models, Animal* ; Necrosis ; Neurons ; Neuroprotection ; Rats* ; Rats, Sprague-Dawley ; Stroke

Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis.
Aneuploidy ; Arm ; Chromosome Aberrations ; Chromosomes, Human, Pair 12 ; Diagnosis ; Femur ; Hernia, Diaphragmatic ; Isochromosomes ; Karyotyping ; Lymphocytes ; Maternal Age ; Mosaicism ; Polyhydramnios ; Tetrasomy* ; Ultrasonography

In aging societies, incidences of neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease are increasing. Neurodegenerative diseases are bringing main challenges to the healthcare system in today’s world. Analyzing characteristic imaging patterns of patients with neurodegenerative diseases is important. Since objective and reliable imaging assessments and precise analyses can lead to early diagnosis of neurodegenerative diseases, imaging patterns are being increasingly investigated. Artificial intelligence (AI) analyzing brain MRI has been applied to neurodegenerative diseases, providing added value in early diagnosis. MRI-based AI software has been developed and studied worldwide, with some AI-based software already being used in actual clinical care. Currently, there are MRI-based volumetry and segmentation software available. There is also an unmet demand for the application of AI in neurodegenerative diseases. Here, we review current status and unmet needs for application of AI in neurodegenerative diseases. We also discuss current limitations of AI, suggestion for AI-based software, and how it can be clinically applied in the future.