• Maxillofacial Plastic and Reconstructive Surgery
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• 제42권
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• pp.26.1-26.6
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• 2020

Background: Orofacial clefts (OFCs) comprise a wide range of malformations, including cleft lip, cleft palate, and cleft lip with cleft palate, which can vary in terms of etiology, severity, and disease burden. Objective(s): This study aimed to evaluate the correlation between various risk factors and orofacial cleft disorder spectrum in newborns. Study design: A total of 323 cases and 400 controls were enrolled in this study and evaluated in terms of the maternal history of abortion or miscarriage, child's sex, maternal and paternal age, maternal history of systemic disease, history of medication therapy during pregnancy, birth order, consanguineous marriage, and complications during pregnancy. Results: Analysis of the results suggested that consanguineous marriage, a maternal history of abortion/miscarriage, and complications during pregnancy could potentially increase the risk of OFCs in children (P < 0.05). However, the analyses revealed that the other variables could not potentially increase the risk of OFCs (P > 0.05). Conclusion(s): Multiple cofactors may simultaneously contribute to the formation of such abnormalities; therefore, a comprehensive, multidisciplinary care program is necessary to ensure a successful pregnancy period and the birth of a healthy newborn.

• Fisheries and Aquatic Sciences
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• 제25권3호
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• pp.117-139
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• 2022

Synucleinopathies such as Parkinson's disease (PD) are incurable neurodegenerative conditions characterised by the abnormal aggregation of α-synuclein protein in neuronal cells. In PD, fibrillary synuclein aggregation forms Lewy bodies and Lewy neurites in the substantia nigra and cortex on the brain. Dementia with Lewy bodies and multiple system atrophy are also associated with α-synuclein protein abnormalities. α-synuclein is one of three synuclein proteins, and while its precise function is still unknown, one hypothesis posits that α-synuclein propagates from the enteric nervous system through the vagus nerve and into the brain, resulting in synucleinopathy. Studies on synucleinopathies should thus encompass not only the central nervous system but must necessarily include the gut and microbiome. The zebrafish (Danio rerio) is a well-established model for human neuronal pathologies and have been used in studies ranging from genetic models of hereditary disorders to neurotoxin-induced neurodegeneration as well as gut-brain-axis studies. There is significant genetic homology between zebrafish and mammalian vertebrates which is what makes the zebrafish so amenable to modelling human conditions but in the case of synucleinopathies, the zebrafish notably does not possess an α-synuclein homolog. Synuclein orthologs are present in the zebrafish however, and transgenic zebrafish that carry human α-synuclein have been generated. In addition, the zebrafish is a highly advantageous model and ideal replacement for reducing the use of mammalian models. This review discusses the application of the zebrafish as a model for synucleinopathies in efforts to further understand synuclein function and explore therapeutic strategies.

• Childhood Kidney Diseases
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• 제26권1호
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• pp.31-39
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• 2022

Alport syndrome (AS) is a progressive hereditary nephritis that is often accompanied by sensorineural hearing loss and ocular abnormalities. It is inherited in three modes of X-linked AS (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ARAS and ADAS are caused by those in COL4A3 or COL4A4. There is currently no curative treatment for AS; however, angiotensin-converting enzyme inhibitors (ACEi) can improve the outcome of AS. In the past decade, multiple studies have shown that early intervention with ACEi upon isolated microscopic hematuria or microalbuminuria could delay disease progression, and early diagnosis is crucial for early treatment. Therefore, a new classification of AS based on molecular diagnoses has been proposed, including the paradigm shift of re-classifying female "carriers" to "patients" and "thin basement membrane nephropathy" to "ADAS." In addition, with the detection of COL4A mutations in some patients with biopsy-confirmed IgA nephropathy, focal segmental glomerulosclerosis, and chronic kidney disease of unknown origin, it is suggested that the phenotype of AS should be expanded. In this review, we highlight the landmark studies and guidelines published over the past decade and introduce strategies for early diagnosis and treatment to improve the outcomes of AS.

• 한국간담췌외과학회지
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• 제27권2호
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• pp.220-225
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• 2023

Congenital duplication of the extrahepatic bile duct (DEBD) is an unusual anomaly of the biliary system. It occurs due to inability of the embryological duplex biliary system to regress. DEBD has various subtypes depending on the morphology and opening of the aberrant common bile duct. It can have distinct complications. We encountered a 38-year-old lady who experienced pain in the right upper abdomen along with a low-grade fever. Magnetic resonance cholangiopancreatography revealed DEBD with multiple calculi in the right hepatic duct (ductolithiasis) and joining of the right hepatic duct with the left hepatic duct in the intrapancreatic region. Endoscopic retrograde cholangiography failed to clear the calculi from the right duct. They were then managed by common bile duct exploration and roux-en-Y right hepaticojejunostomy for biliary drainage. Her postoperative period was uneventful. She is currently doing well after three months of follow-up. Hence, a proper preoperative delineation of such rare anomalies is essential. It could avoid inadvertent injury to the bile duct and operative complications.

• Clinical and Experimental Pediatrics
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• 제48권2호
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• pp.165-173
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• 2005

목 적 : 가와사끼병의 치료에 면역 글로불린이 도입된 이후 환자의 대부분이 회복기 심초음파 검사에서 정상 관상동맥 소견을 보이게 되었으나 그 장기 예후는 아직 불분명하며 추적관찰 방법도 아직 표준화되지 못한 상태이다. AHA에서는 이 환자군을 위험도 1 또는 2로 분류하고 발병 6-12개월경의 추적 심초음파 검사와 발병 1년까지 외래 추적관찰을 권하고 있다. 본 연구는 이 추적 심초음파 검사의 유용성 정도를 알아보고자 하였으며, 실제 임상에서는 이들 환자가 어떻게 추적관찰되고 있는지 조사하여 그 결과를 비교하였다. 방 법 : 2000년 1월부터 2003년 10월까지 인제대학교 부속 부산백병원 소아과에 가와사끼병으로 내원하였던 환아 147명 중 급성기와 회복기 심초음파 검사결과 AHA위험도 1, 2에 해당되며 발병 후 최소 6개월 이상의 경과를 가진 환아 중에서 심초음파 및 심전도 검사를 시행할 수 있었던 45례를 대상으로 하여 의무기록과 심초음파 검사 결과를 분석하였다. 아울러 국내 소아 심장전문의들에게 관상동맥 병변의 진단 기준 및 AHA 위험도 1, 2군에 속하는 환자들의 추적관찰 방법에 대한 설문조사를 실시하였다. 결 과 : 1) 45례의 대상 환아들의 발병 당시 연령은 5개월에서 7세(평균 29.7개월), 남녀비는 1.4 : 1이었고 평균 발열 기간은 7.3일이었다. 이 중 AHA 위험도 1군은 37례(82.2%), AHA 위험도 2군은 8례(17.8%)이었다. 2) 급성기 심초음파 검사는 평균 발열 후 11.2일에 시행되었다. 24례(53.3%)에서 경한 판막 역류나 소량의 심막액 저류를 보였고 관상동맥 확장은 8례(17.8%)에서 나타났다. 회복기 검사는 평균 발열 8.8주에 시행되었고 모두 심초음파 검사상 정상 관상동맥 소견을 보였으며 경도의 판막 역류가 3례(6.7%)에서 관찰되었다. 추적 검사는 발병 후 평균 22.2개월에 시행되었고 관상동맥 소견은 모두 정상이었다. 5례(11.1%)에서 심낭 삼출 및 판막의 역류가 미량 관찰되었고 1례에서는 심전도에서 이속성 각차단이 나타났으나 심근 경색, 허혈의 소견이나 심기능의 저하는 없었다. 5세 미만과 5세 이상에서 각각 급성기, 회복기, 추적관찰기간의 좌, 우 관상동맥의 평균 내경을 비교하였으나 통계적으로 유의한 변화는 없었다(Table 2, 3). 3) 설문조사의 응답자는 27명이었으며 AHA 위험도 1군에게는 회복기 심초음파 검사까지만 실시한다는 응답이 가장 많았고(48.2%) 외래 추적관찰은 회복기 이후 중단하거나(37.0%), 발병 1년까지만 하는 경우(33.3%)가 대부분이었다. 평균 심초음파 검사 횟수는 2.3회였다. AHA 위험도 2군에게는 회복기 이후 발병 6개월에서 12개월 사이에 1회(37.0%) 또는 2회(51.9%)의 추가 검사를 실시하는 것으로 나타났다. 외래 추적관찰은 1년까지만 하는 경우(33.3%)가 가장 많았으나 다양한 답변이 있었다(Table4). 평균 심초음파 검사 횟수는 3.4회였다. 관상동맥 이상의 판단은 5세 미만 내경 3 mm 이상, 5세 이상에서 내경 4 mm 이상을 병변으로 판단한다는 답변이 가장 많았다(77.8%). 그러나 개인의 선호도에 따라 응답에 차이가 있었다. 결 론 : 본 연구에서 회복기 심초음파 검사상 정상 관상동맥 내경을 보였던 환자들은 발병 6개월 이후 실시한 추적 검사에서도 관상동맥 내경의 변화는 없는 것으로 나타나 AHA에서 권고하는 발병 6-12개월 사이의 추적 심초음파 검사는 유용성이 떨어지는 것으로 판단된다. 임상의들을 대상으로 한 설문조사에서는 AHA 위험도 1군에서는 회복기 이후에 심초음파 추적검사를 하지 않는 병원이 많은 것으로 나타났으나 AHA 위험도 2군에서는 발병 1년까지 추적 심초음파 검사를 하는 병원이 더 많은 것으로 나타났다. 앞으로 초기 심초음파 검사상 정상이었던 가와사끼병 환자군의 장기예후와 추적관찰 방법에 대해 더 많은 수의 증례를 대상으로 한 다기관 조사를 통해 관상동맥 이상의 진단 기준의 표준화 및 적절한 추적관찰 지침을 제정할 필요가 있는 것으로 사료된다.

• 대한소아치과학회지
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• 제28권1호
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• pp.180-184
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• 2001

쇄골두개 이형성증(Cleidocranial Dysplasia)은 autosomal dominant skeletal dysplasia로 쇄골의 부재 두개골 봉합지연 및 치아이상의 특징을 갖는 질환이다. 치아이상 중에 유치열 발달은 정상인데 반해 영구치 맹출 실패가 가장 특징적인 소견이며 다수의 과잉치의 존재, 치아형태이상과 치근형태이상 등이 존재한다. 영구치의 지연 혹은 맹출 부전의 원인으로 (1) 다수의 과잉치 존재, (2) cellular cementum이 없는 기형적 치근형태, (3) 악골의 높은 골밀도, (4) 유치와 골의 비정상적 흡수를 들 수 있으며 저하된 골대사가주원인이며 두번째로 다수의 과잉치의 존재를 들 수 있다. 이의 치료방법은 더 많은 치아 맹출의 환경조성을 위한 교정치료, 외과적 처치 및 보철적 수복이 필요하다. 본 증례는 쇄골두개 이형성증으로 진단받은 7세 10개월 여 환아로 영구치 미맹출을 주소로 본원에 내원하였다. 임상구강 검사에서 유치의 만기잔존, 악궁의 협착, 전치부 반대교합과 다수의 치아우식증이 관찰되었으며 악골의 방사선사진에서 유치의 만기잔존 및 상하악에 다수의 과잉치가 관찰되었고 두부방사선사진에서 미폐쇄된 봉합과 봉간골(wormian bone)이 관찰되었으며 흥부방사선사진에서 쇄골의 부재가 보였다. 이 환아의 성장에 따른 치열 발달을 이해하고 시기에 따른 적절한 치과적 처치에 대해서 본 증례에서 보고하는 바이다.

• 한국의학물리학회:학술대회논문집
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• 한국의학물리학회 2004년도 제29회 추계학술대회 발표논문집
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• pp.91-95
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• 2004

알츠하이머병에서는 전산화 단층촬영영상이나 자기공명영상을 이용하여 구조적, 비특이적 뇌 위축등의 병변을 진단할 수는 있으나 뇌 당대사 및 혈류 분포에 의한 이상 유무를 진단하기 위해서는 단일광자방출 단층촬영술 (single photon emission computed tomography, SPECT) 이나 양전자 방출 단층촬영술 (positron emission tomography, PET)을 이용한 국소 뇌혈류나 뇌 당대사 변화를 관찰한 진단이 필수적이다. 따라서 SEPCT나 PET영상 위에 직접 관심영역(region of interest, ROI)를 그려서 ROI를 관찰하여 해부학적 뇌위축과 국소 뇌혈류나 뇌 당대사 변화를 분석하였으나 ROI 방법은 주관적인 영향과 많은 분석 시간을 요하는 단점이 있다. 따라서 통계적 분석 방법을 이용한 맵핑방법으로 voxel based morphometry 방법을 수행하였고 MMSE 값을 분산분석변수로 하여 영상분석하여 $^{18}$F-labeled 2-deoxyglucose ($^{18}$F-FDG) positron emission tomography(PET)-CT 영상을 분석하였다. MMSE 값을 변수로 분석한 voxel based morphemetry 방법에서는 MMSE 값에 의한 대사저하의 변화는 무의미하였다. 알츠하이머병에서는 측두두정엽(temporoparietal cortex)의 cerebral blood flow, oxygen utilization, glucose metabolism은 줄어들고, 일차시각피질, 일차감각피질, 기저핵, 시상, 소뇌는 유지되며 voxel based morphometry 방법은 알츠하이머병을 분석하는데 유용한 분석방법이다.

• Journal of Oral Medicine and Pain
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• 제40권3호
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• pp.110-114
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• 2015

Purpose: Growth and differentiation factor (GDF)-11 is a transforming growth factor-${\beta}$ family member that plays important regulatory roles in development of multiple tissues which include axial skeletal patterning, palatal closure, and tooth formation. Proteins that have been identified as GDF-11 inhibitors include GDF-associated serum protein (GASP)-1 and GASP-2. Recently, we found that mice genetically engineered to lack both Gasp1 and Gdf11 have an increased frequency of cleft palate. The goal of this study was to investigate the roles of GDF-11 and its inhibitors, GASP-1 and GASP-2, during dental and craniofacial development and growth. Methods: Mouse genetic studies were used in this study. Homozygous knockout mice for Gasp1 ($Gasp1^{-/-}$) and Gasp2 ($Gasp2^{-/-}$) were viable and fertile, but Gdf11 homozygous knockout ($Gdf11^{-/-}$) mice died within 24 hours after birth. The effect of either Gasp1 or Gasp2 deletion in $Gdf11^{-/-}$ mice during embryogenesis was evaluated in $Gasp1^{-/-}$;$Gdf11^{-/-}$ and $Gasp2^{-/-}$;$Gdf11^{-/-}$ mouse embryos at 18.5 days post-coitum (E18.5). For the analysis of adult tissues, we used $Gasp1^{-/-}$;$Gdf11^{+/-}$ and $Gasp2^{-/-}$;$Gdf11^{+/-}$ mice to evaluate the potential haploinsufficiency of Gdf11 in $Gasp1^{-/-}$ and $Gasp2^{-/-}$ mice. Results: Although Gasp2 expression decreased after E10.5, Gasp1 expression was readily detected in various ectodermal tissues at E17.5, including hair follicles, epithelium in nasal cavity, retina, and developing tooth buds. Interestingly, $Gasp1^{-/-}$;$Gdf11^{-/-}$ mice had abnormal formation of lower incisors: tooth buds for lower incisors were under-developed or missing. Although $Gdf11^{+/-}$ mice were viable and had mild transformations of the axial skeleton, no specific defects in the craniofacial development have been observed in $Gdf11^{+/-}$ mice. However, loss of Gasp1 in $Gdf11^{+/-}$ mice occasionally resulted in small and abnormally shaped auricles. Conclusions: These findings suggest that both GASP-1 and GDF-11 play important roles in dental and craniofacial development both during embryogenesis and in adult tissues.

• Biomolecules & Therapeutics
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• 제22권5호
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• pp.406-413
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• 2014

to valproic acid (VPA) during pregnancy produces ASD-like core behavioral phenotypes as well as hyperactivity in offspring both in human and experimental animals, which makes it a plausible model to study ASD-related neurobiological processes. In this study, we examined the effects of two of currently available attention defecit hyperactivity disorder (ADHD) medications, methylphenidate (MPH) and atomoxetine (ATX) targeting dopamine and norepinephrine transporters (DAT and NET), respectively, on hyperactive behavior of prenatally VPA-exposed rat offspring. In the prefrontal cortex of VPA exposed rat offspring, both mRNA and protein expression of DAT was increased as compared with control. VPA function as a histone deacetylase inhibitor (HDACi) and chromatin immunoprecipitation experiments demonstrated that the acetylation of histone bound to DAT gene promoter was increased in VPA-exposed rat offspring suggesting epigenetic mechanism of DAT regulation. Similarly, the expression of NET was increased, possibly via increased histone acetylation in prefrontal cortex of VPA-exposed rat offspring. When we treated the VPA-exposed rat offspring with ATX, a NET selective inhibitor, hyperactivity was reversed to control level. In contrast, MPH that inhibits both DAT and NET, did not produce inhibitory effects against hyperactivity. The results suggest that NET abnormalities may underlie the hyperactive phenotype in VPA animal model of ASD. Profiling the pharmacological responsiveness as well as investigating underlying mechanism in multiple models of ASD and ADHD may provide more insights into the neurobiological correlates regulating the behavioral abnormalities.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제40권
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• pp.27.1-27.8
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• 2018

Purpose: Various complications occur when a maxillofacial fracture is malunionized or improperly resolved. Malocclusion is the most common complication, followed by facial deformity, temporomandibular joint disorder (TMD), and neurological symptoms. The purpose of this study was to evaluate the dental treatment of postoperative complications after maxillofacial fracture. Materials and methods: In this study, nine patients with a postoperative complication after maxillofacial fracture who had been performed the initial operation from other units and were referred to the authors' department had been included. Of the nine patients, six had mandibular fractures, one had maxillary fractures, one had maxillary and mandibular complex fractures, and one had multiple facial fractures. All the patients had tooth fractures, dislocations, displacements, and alveolar bone fractures at the time of trauma, but complications occurred because none of the patients underwent preoperative and postoperative dental treatment. Malocclusion and TMD are the most common complications, followed by dental problems (pulp necrosis, tooth extrusion, osteomyelitis, etc.) due to improper treatment of teeth and alveolar bone injuries. The patients were referred to the department of dentistry to undergo treatment for the complications. One of the nine patients underwent orthognathic surgery for a severe open bite. Another patient underwent bone reconstruction using an iliac bone graft and vestibuloplasty with extensive bone loss. The other patients, who complained of moderate occlusal abnormalities and TMDs such as mouth-opening limitation, underwent occlusal treatment by prosthodontic repair and temporomandibular joint treatment instead of surgery. Results: One patient who underwent orthognathic surgery had complete loss of open bite and TMD after surgery. One patient who underwent reconstruction using an iliac bone graft had a good healing process. Other patients were treated with splint, injection, and physical therapy for mouth-opening limitation and temporomandibular joint pain. After treatment, the TMDs were resolved, but the remaining occlusal abnormalities were resolved with prosthetic restoration. Conclusions: Considering the severity of malocclusion and TMJ symptom and the feasibillity of reoperation, nonsurgical methods such as orthodontic and prosthodontic treatments and splint therapy can be used to manage the dental and TMD complication after the trauma surgery. However, reoperation needs to be strongly considered for severe malocclusion and TMD problem.