• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Food Science of Animal Resources
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• v.37 no.6
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• pp.926-930
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• 2017

High-quality meat is of great economic importance to the pig industry. The 1-acylglycerol-3-phosphate-O-acyltransferase 5 (AGPAT5) enzyme converts lysophosphatidic acid to phosphatidic acid in the mitochondrial membrane. In this study, we found that the porcine AGPAT5 gene was highly expressed in muscle tissue, influencing meat characteristics, and we also identified a non-synonymous single-nucleotide polymorphism (nsSNP) (rs196952262, c.673 A>G) in the gene, associated with a change of isoleucine 225 to valine. The presence of this nsSNP was significantly associated with meat color (lightness), lower cooking loss, and lower carcass temperatures 1, 4, and 12 h after slaughter (items T1, T4, and T12 on the recognized quality scale, respectively), and tended to increase backfat thickness and the water-holding capacity. These results suggest that nsSNP (c.673A>G) of the AGPAT5 gene is a potential genetic marker of high meat quality in pigs.

• Journal of Veterinary Clinics
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• v.23 no.2
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• pp.197-201
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• 2006

A 2-year-old female mongrel dog was referred to the Veterinary Medical Center of Chungbuk National University due to anorexia, depression and weight loss after the administration of exogenous estrogen for contraception in the local hospital. Although the dog was medicated with antibiotics and fluid for two weeks in the local hospital, there was a deterioration in the patient's general condition. Therefore the dog was referred to our Veterinary Medical Center. Hematological and biochemical analysis showed non-regenerative anemia, thrombocytopenia, severely immature leukocytosis, hyperbilirubinemia, hyperglycemia and elevated serum alkaline phosphatase, gamma-glutamyltransferase, and lactate dehydrogenase. Abdominal ultrasonography showed double line of gallbladder and irregular hypertrophic wall of uterus. On the basis of these examination's results and history taking, final diagnosis was exogenous estrogen-induced myelotoxicosis with cholecystitis and endometritis. The symptomatic therapy for estrogen toxicosis was performed for 26 days after the final diagnosis. However, the symptom had no response to therapy except endometritis and anemia. On day 135 after administration of estrogen, platelet and neutrophil count were normalized, but monocytic leukocytosis was occurred.

• The Journal of Korean Medicine
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• v.32 no.5
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• pp.134-138
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• 2011

Glycyrrhetinic acid, which is a component of licorice, can cause hypermineralocorticoidism through the inhibition of $11{\beta}$-hydroxysteroid dehydrogenase. So, a high dose intake of licorice can lead to hypermineralocorticoidism with potassium loss and depression of the renin-angiotensin-aldosterone system. We report a 73-year-old man with muscle weakness of proximal lower limbs with hypokalemia (Serum $K^+$: 1.4 mEq/L) due to taking self-prescribed licorice without OMD's diagnosis. He boiled 60~100g licorice / day in water and drank it intermittently for 1 month due to arthralgia and swelling of both his knees. Patient's serum renin activity and aldosterone level were far beyond the normal range. He also had metabolic alkalosis with pH 7.552. After quitting the licorice, hypokalemia and muscle weakness of proximal lower limbs gradually improved within 1week.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.72-77
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• 2016

Purpose: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat ($Zavesca^{(R)}$) was approved for the treatment of adults with GD type 1, for whom enzyme replacement therapy (ERT) is unsuitable or not a therapeutic option. In this study, we report the effect of miglustat ($Zavesca^{(R)}$) in three Korean GD patients. Materials and Methods: Clinical findings comprising age at diagnosis, presenting signs, laboratory findings at diagnosis, GBA activity and mutations, and clinical courses of the three patients were reviewed. Results: Miglustat was administered to three patients who reported allergic reactions during intravenous imiglucerase infusions. One patient withdrew after 15 months of miglustat administration owing to continuous elevation of disease biomarker levels (chitotriosidase, acid phosphatase, and angiotensin-converting enzyme). Poor adherence to medication was suspected but was denied by the patient. In the other two patients, platelet count and levels of hemoglobin and other biomarkers remained stable during miglustat administration. However, they suffered from severe diarrhea and weight loss, which led to miglustat discontinuation after 1 and 12 months of administration. Conclusion: Our study shows that although miglustat is suggested to GD patients as an alternative treatment to ERT, significant adverse reactions may lead to discontinuation of miglustat. In addition, it is difficult to monitor the drug adherence.

• Clinical and Experimental Reproductive Medicine
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• v.48 no.3
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• pp.203-210
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• 2021

We performed a systematic review and meta-analysis to evaluate whether intralipid administration improved the outcomes of in vitro fertilization. Online databases (PubMed, Cochrane Library, Medline, and Embase) were searched until March 2020. Only randomized controlled trials (RCTs) that assessed the role of intralipid administration during in vitro fertilization were considered. We analyzed the rates of clinical pregnancy and live birth as primary outcomes. Secondary outcomes included the rates of chemical pregnancy, ongoing pregnancy, and missed abortion. We reviewed and assessed the eligibility of 180 studies. Five RCTs including 840 patients (3 RCTs: women with repeated implantation failure, 1 RCT: women with recurrent spontaneous abortion, 1 RCT: women who had experienced implantation failure more than once) met the selection criteria. When compared with the control group, intralipid administration significantly improved the clinical pregnancy rate (risk ratio [RR], 1.48; 95% confidence interval [CI], 1.23-1.79), ongoing pregnancy rate (RR, 1.82; 95% CI, 1.31-2.53), and live birth rate (RR, 1.85; 95% CI, 1.44-2.38). However, intralipid administration had no beneficial effect on the miscarriage rate (RR, 0.75; 95% CI, 0.48-1.17). A funnel plot analysis revealed no publication bias. Our findings suggest that intralipid administration may benefit women undergoing in vitro fertilization, especially those who have experienced repeated implantation failure or recurrent spontaneous abortion. However, larger, well-designed studies are needed to confirm these findings.

• Clinical and Experimental Otorhinolaryngology
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• v.11 no.4
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• pp.224-232
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• 2018

Objectives. Spiral ganglion neurons (SGNs) include potential endogenous progenitor populations for the regeneration of the peripheral auditory system. However, whether these populations are present in adult mice is largely unknown. We examined the presence and characteristics of SGN-neural stem cells (NSCs) in mice as a function of age. Methods. The expression of Nestin and Ki67 was examined in sequentially dissected cochlear modiolar tissues from mice of different ages (from postnatal day to 24 weeks) and the sphere-forming populations from the SGNs were isolated and differentiated into different cell types. Results. There were significant decreases in Nestin and Ki67 double-positive mitotic progenitor cells in vivo with increasing mouse age. The SGNs formed spheres exhibiting self-renewing activity and multipotent capacity, which were seen in NSCs and were capable of differentiating into neuron and glial cell types. The SGN spheres derived from mice at an early age (postnatal day or 2 weeks) contained more mitotic stem cells than those from mice at a late age. Conclusion. Our findings showed the presence of self-renewing and proliferative subtypes of SGN-NSCs which might serve as a promising source for the regeneration of auditory neurons even in adult mice.

• Ecology and Resilient Infrastructure
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• v.4 no.3
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• pp.180-185
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• 2017

Restoration of min-impacted arable land is often performed through stabilization of trace elements by amendment treatment combined with (clean) soil covering on the surface. Recently, soil loss problem from sloping remediated agricultural lands has risen as an emerging concern. In this study, efficacy of aggregation formation was assessed by single and binary treatments of four potential amendments (bentonite, lime, organic matter, and steel slag) applied on three cover soils having different clay contents (9.4, 14.7, and 21.2% for A, B, and C soils respectively). In results of single treatments, 5% organic matter for A soil and 5% lime for B and C soils were found most effective for the aggregation formation compared to the respective controls (without amendments). Among nine binary treatments, 3% organic matter + 1% lime for A soil and 1% organic matter + 3% lime for both B and C soils led to the highest formation of aggregation (30.4, 25.0, and 36.5% for A, B, and C soils). For a site-application, the soil erodibility difference between the cover soils (0.045, 0.051, and 0.054 for A, B, and C soils, respectively) and the national average of arable land (0.032) was assumed to be compensated by amendment addition, which is equivalent to 29.1% aggregation formation. To achieve the aggregation goal, 5% lime for A and B soils and 3% lime for C soil were best in the consideration of benefit/cost, thereby effectively and economically reducing soil loss from sloping remediation site. Soil alkalinity induced by lime treatment was not considered in this work.

• Journal of the Korean Ceramic Society
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• v.39 no.2
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• pp.178-183
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• 2002

Zinc fluosilicate ($ZnSiF_6$, 15% aqueous solution) was prepared using zinc oxide (ZnO) and fluosilicic acid ($H_2SiF_6$) by soluiton synthetic method. The fluidity and hydration properties of cement which was added $ZnSiF_6$ (aq.) as an additive for cement were studied. At water to cement ratio (W/C) equals to 0.45, the initial fluidity and slump loss of cement paste which the addition of $ZnSiF_6$ (aq.) was increased from 1.0% to 4.0% based on cement weight were investigated. Initial fluidity of cement paste was measured by mini-slump test and slump loss was examined by measuring the fluidity variation of cement paste with time elapsed from 0 min to 120 min at intervals 30 min. Also, the effect of $ZnSiF_6$ addition on the setting and hydration of cement paste when $ZnSiF_6$ increased in the addition range 1.0% to 3.0% were investigated. The fluidity of cement paste which was added 2.1% $ZnSiF_6$ (aq.) presented the highest value among all addition ranges. The setting time of cement paste was retarded gradually and the heat evolution of hydrated cement was reduced with the increasing of $ZnSiF_6$ addition.

• Molecules and Cells
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• v.38 no.9
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• pp.781-788
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• 2015

Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and IQ2 domains, respectively. The p.L1291F variant was predicted to affect the structure of the actin-binding site from three-dimensional protein modeling, thereby interfering with the correct interaction between actin and myosin. From the literature analysis, mutations in the N-terminal domain were more frequently associated with residual hearing at low frequencies than mutations in the other regions of this gene. Therefore we suggest a hypothetical genotype-phenotype correlation whereby MYO15A mutations that affect domains other than the N-terminal domain, lead to profound SNHL throughout all frequencies and mutations that affect the N-terminal domain, result in residual hearing at low frequencies. This genotype-phenotype correlation suggests that preservation of residual hearing during auditory rehabilitation like cochlear implantation should be intended for those who carry mutations in the N-terminal domain and that individuals with mutations elsewhere in MYO15A require early cochlear implantation to timely initiate speech development.