• Journal of Oral Medicine and Pain
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• v.46 no.3
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• pp.93-97
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• 2021

The limited mouth opening, also known as trismus, can result from temporomandibular joint disorders, infection, neoplasm, trauma, and abnormal anatomic structure like coronoid hyperplasia. Head and neck cancer patients often complain of limited mouth opening, which is usually induced by myofibrotic contracture of masticatory muscle. But clinicians should consider any reasons such as infection or cancer growth and metastasis if trismus gets worse or pain develops. We report the case of the patient, who was diagnosed with myxofibrosarcoma on nasal cavity. He had suffered from trismus after concurrent chemoradiotherapy. However, pain had developed and trismus had worsened. He was diagnosed with infratemporal space abscess and myositis of masticatory muscles.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.23-26
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• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.5
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• pp.479-486
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• 2019

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum ${\gamma}-glutamyl$ transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

• Development and Reproduction
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• v.25 no.2
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• pp.83-91
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• 2021

The present study was performed to investigate the effect of maternal hypothyroidism and puberty onset in female rat pups. To do this, we employed propylthiouracil (PTU) to prepare a hypothyroid rat model. Pregnant rats were treated with PTU (0.025%) in drinking water from gestational day 14 to postnatal day 21 of offspring. Comparison of general indices such as body and tissue weights and puberty indices such as vaginal opening (VO) and tissue histology between control and PTU-treated rats were conducted. There was no significant difference in the date of VO between control and PTU group. The body weights of the PTU group were significantly lower, only 36.8% of the control group (p<0.001). Although the absolute thyroid weight was not changed by PTU treatment, the relative weight increased significantly about 2.8 times (p<0.001), indicating that hypothyroidism was successfully induced. On the other hand, the absolute weights of the ovary and uterus were markedly decreased by PTU administration (p<0.001), and the relative weight was not significantly changed. The ovarian histology of PTU group revealed the advanced state of differentiation (i.e., presence of corpora lutea). Inversely, the uterine histology of PTU group showed underdeveloped structures compared those in control group. Taken together, the present study demonstrates that our maternal hypothyroidism model resulted in minimal effect on pubertal development symbolized by VO despite of huge retardation in somatic growth. More sophisticatedly designed hypothyroidism model will be helpful to achieve a better understanding of pubertal development and related disorders.

• Clinical and Experimental Pediatrics
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• v.65 no.2
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• pp.90-97
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• 2022

Background: Stunting is affected by various factors from mother and child. Previous studies assessed only one or more influencing variables. Unfortunately, nor the significant influence of maternal and child factors nor the indicators contributing to maternal and child factors that affect the stunting incidence have ever been analyzed. Purpose: This study analyzed the effect of maternal and child factors on stunting and the significant indicators that shape the maternal and child factors that impact stunting. Methods: This was a case-control study. Overall, 132 stunted children and 132 nonstunted children in Purbalingga Regency, Central Java Province, participated in the research. Direct interviews and medical record reviews were conducted to assess the studied variables. The research data were tested using the partial least squares structural equation with a formative model. Results: Maternal factors directly affected the occurrence of stunting (t=3.527, P<0.001) with an effect of 30.3%. Maternal factors also contributed a significant indirect effect on stunting through child factors (t=4.762, P<0.001) with an effect of 28.2%. Child factors affected the occurrence of stunting (t=5.749, P<0.001) with an effect of 49.8%. The child factor was influenced by maternal factor with an effect of 56.7% (t=10.014, P<0.001). The moderation analysis results demonstrated that maternal and child factors were moderate predictive variables of stunting occurrence. Conclusion: Child factors have more significant and direct effects on stunting than maternal factors but are greatly affected by them.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Korean Journal of Biological Psychiatry
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• v.30 no.1
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• pp.1-6
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• 2023

Many psychiatric disorders are associated with brain functional dysfunctions and neuronal degeneration. According to the research so far, enhanced brain plasticity reduces neurodegeneration and recovers neuronal damage. Brain-derived neurotrophic factor (BDNF) is one of the most extensively studied neurotrophins in the mammalian brain that plays major roles in neuronal survival, development, growth, and maintenance of neurons in brain circuits related to emotion and cognitive function. Also, BDNF plays an important role in brain plasticity, influencing dendritic spines in the hippocampus neurogenesis. Changes in neurogenesis and dendritic density can improve psychiatric symptoms and cognitive functions. BDNF has potent effects on brain plasticity through biochemical mechanisms, cellular signal pathways, and epigenetic changes. There are pharmacological and non-pharmacological interventions to increase the expression of BDNF and enhance brain plasticity. Non-pharmacological interventions such as physical exercise, nutritional change, environmental enrichment, and neuromodulation have biological mechanisms that increase the expression of BDNF and brain plasticity. Non-pharmacological interventions are cost-effective and safe ways to improve psychiatric symptoms.

• Clinical and Experimental Pediatrics
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• v.52 no.8
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• pp.922-929
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• 2009

Purpose : The aim was to investigate the clinical characteristics and responses to growth hormone (GH) therapy in children with attenuated growth who showed normal GH responses to GH stimulation tests (GHST). Methods : The study included 39 patients with height velocity (HV) of less than 4 cm/yr and normal GHST results. Clinical characteristics of patients were analyzed retrospectively. Results : Eleven were born as small for gestational age (SGA) and 28 as appropriate for age (AGA). In the SGA group, the standard deviation score (SDS) of age and height measured at their first visit was significantly low. Sixteen patients were treated with GH and six of 23 without GH therapy were followed for 1 year after GHST. The mean (range) of HV was 7.7 (4.9 to 11.1) cm/yr in patients with GH therapy and 3.7 (2.7 to 4.5) cm/yr in those without GH therapy, which was statistically significant (P<0.001). In the GH-treated group, HV and difference in height SDS during the treatment increased significantly (P<0.001; P< 0.001, respectively). HV increased after 1 year of GH therapy in the SGA and AGA groups (SGA, P=0.043; AGA, P=0.003). The level of Insulin-like growth factor-I was significantly lower in GH-treated patients with height SDS <-3 than those with ${\geq}3$ (P=0.023). Conclusion : In children with growth failure and normal GHST, HV increases significantly by short-term GH therapy. The assessment of long-term effects of GH therapy is necessary. Moreover, further studies should be considered to evaluate the GH-IGF-I axis due to the possibility of GH insensitivity syndrome.

• Horticultural Science & Technology
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• v.30 no.2
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• pp.144-151
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• 2012

Diagnosis of nutrient disorders in cultivating crops is based on the visual symptoms and results of soil and plant analysis. This study was carried out to investigate the influence of B concentrations in fertilizer solution on the growth of and nutrient uptake by domestically bred strawberries. Tissue analysis based on the dry weight were also conducted to determine the threshold levels in plants when toxicity developed in boron. The growth was seriously restricted in the three strawberry cultivars as the B concentrations in fertilizer solution were elevated. The fresh and dry weights were heavier and crown diameters were thicker in the 0.25 mM boron treatment than the other treatments tested. The toxicity symptoms of boron appeared on the older leaves of three strawberry cultivars while interveinal chlorosis symptoms appeared on the young leaves of 'Keumhyang' and 'Seolhyang' strawberries. The toxicity symptoms in lower leaves were developed when B concentrations in fertilizer solution were higher than 2 mM in 'Keumhyang' and 0.5 mM in 'Maehyang' and 'Seolhyang' strawberries. The elevated boron concentrations in fertilizer solution did not influence the tissue K, Ca, and Mg contents, but influenced the phosphorus contents with decreasing tendency. The tissue Fe and Zn contents decreased and increased, respectively, as the B concentrations in fertilizer solution were elevated. When the concentration of boron at which the growth of a plant is retarded by 10% is regarded as a upper threshold level, the boron contents based on dry weight of above ground plant tissue should be lower than 25.1, 44.2, and 62.5 $mg{\cdot}kg^{-1}$ in 'Keumhyang', 'Maehyang', and 'Seolhyang' strawberries, respectively.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.481-487
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• 2009

Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs). Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The data for these patients with hemodynamically significant CHD (n=33) were compared with those without CHD (n=1,065). Results : The incidence of CHD was 3.0% (33 patients) 7 patients (21%) had CHD combined with the congenital abnormalities or chromosomal disorders. The most common CHD was a ventricular septal defect. The incidence of intrauterine growth retardation was higher in patients with CHD than in patients without CHD (34% vs. 20%), but there were no significant differences in gestational age, birth weight, respiratory distress syndrome, bronchopulmonary dysplasia, necrotizing enterocolitis, severe intraventricular hemorrhage (${\geq}$Gr III), and periventricular leukomalacia. Cardiac surgery was performed on 13 patients (39%). Nine patients received staged operations, and 10 patients received early intervention. The overall mortality in patients who had CHD was higher than in the patients who did not have CHD (27% vs. 16%). In patients with CHD, congenital abnormalities or chromosomal disorders were more important factors for increased mortality (86% vs. 11%) than the degree of complexity of CHD (19% vs. 42%). Conclusion : The most important prognostic factors of VLBWI with CHD are the associated congenital abnormalities or chromosomal disorders.