• Journal of Yeungnam Medical Science
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• 제7권1호
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• pp.211-214
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• 1990

저자들은 최근 생후 3일된 dextrocardia와 situs inversus 및 십이지장 완전 폐색을 동반한 환아에서 십이지장 전방 문맥을 발견하였다. 이에 문헌 고찰과 함께 보고하는 바이다.

• 한국정보통신학회:학술대회논문집
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• 한국정보통신학회 2021년도 추계학술대회
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• pp.295-296
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• 2021

홍채 진단학에서 홍채는 색과 홍채 구조의 변화에 따라 인간 조직, 장기들의 비정상적인 변화가 생길시 홍채지도상 해당 영역에 변화가 발생한다. 이를 통해 비정상적인 변화가 생긴 장기의 상태를 판단하거나 선천적으로 가지고 있는 병변의 유무를 판단할 수 있다. 본 논문에서는 다양한 딥러닝 신경망 중 이미지를 이용하여 학습을 진행하는데 강점을 가지고 있는 컨볼루션 신경망을 이용하여 홍채상에 나타난 병변을 분류하는 신경망 알고리즘을 설계할 것이다.

• 대한수의학회지
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• 제63권4호
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• pp.36.1-36.4
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• 2023

We discuss the case of a 5-month-old male British Shorthair cat referred to our hospital following the detection of a heart murmur during a routine vaccination appointment. Two-dimensional echocardiography revealed a 1.18 mm ventricular septal defect (VSD) located immediately below the aortic valve, without signs of secondary cardiac remodeling. Given the absence of cardiac dysfunction, no treatment was administered, and the cat was periodically monitored over the next 2 years. Echocardiography at 29 months of age revealed no signs of the VSD. Future studies are needed to increase the evidence base for spontaneous VSD closure in small animals.

• Biomolecules & Therapeutics
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• 제32권3호
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• pp.291-300
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• 2024

Autosomal dominant polycystic kidney disease (ADPKD), a congenital genetic disorder, is a notable contributor to the prevalence of chronic kidney disease worldwide. Despite the absence of a complete cure, ongoing research aims for early diagnosis and treatment. Although agents such as tolvaptan and mTOR inhibitors have been utilized, their effectiveness in managing the disease during its initial phase has certain limitations. This review aimed to explore new targets for the early diagnosis and treatment of ADPKD, considering ongoing developments. We particularly focus on cell polarity, which is a key factor that influences the process and pace of cyst formation. In addition, we aimed to identify agents or treatments that can prevent or impede the progression of renal fibrosis, ultimately slowing its trajectory toward end-stage renal disease. Recent advances in slowing ADPKD progression have been examined, and potential therapeutic approaches targeting multiple pathways have been introduced. This comprehensive review discusses innovative strategies to address the challenges of ADPKD and provides valuable insights into potential avenues for its prevention and treatment.

• Advances in pediatric surgery
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• 제12권1호
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• pp.53-69
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• 2006

This is a survey on congenital posterolateral diaphragmatic hernia, conducted by the Korean Association of Pediatric Surgeons(KAPS). A registration form for each patient during the 5-year-period between 1998 and 2002 and a questionaire were sent to each member. Twenty-ninemembers in 22 institutions returned completed forms. The average number of patients per surgeon was 1.4 cases a year. The male to female ratio was 1.64: 1, and annual incidencewas 1/14,522 live births. In this review, factors influencing survival in congenital posterolateral diaphragmatic hernia were age at admission, birth weight, time of antenatal diagnosis, birth place, Apgar score, onset time of symptoms and signs, preoperative cardiopulmonary resuscitation, associated anomalies of themusculoskeletal system, central nervous system, or chromosomes, preoperative stabilization, levels of preoperative $FiO_2$, pH, and $AaDO_2$, perioperative complications, bilaterality of defect, size of the defect, and presence or absence of hernia sac.

• 대한치과보철학회지
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• 제59권2호
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• pp.238-247
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• 2021

선천성 치아결손은 가장 흔한 치아의 발육장애인데, 이 중 제3대구치를 제외한 6개 이상의 치아가 상실된 경우를 부분무치증(oligodontia)이라 한다. 이러한 치아결손은 부정교합, 치조제 위축, 심미적인 문제 및 사회심리적인 문제 등을 초래한다. 14개의 영구치 결손과 상악궁의 치조제 위축, 하악의 전돌 등이 관찰되는 부분무치증 환자에서 다학제 치료계획을 수립하였다. 만기잔존유치의 발거와 교정치료를 선행하여 보철수복공간을 확보하고 불량한 치축을 개선하였으나, 구치부 절단교합과 상악 치조제의 위축으로 인한 악궁 간 크기 차이가 잔존하였다. 치아결손 부위에 임플란트 식립을 이용한 고정성 보철수복을 계획하여 심미성과 기능성을 회복하고자 하였다. 골이식을 최소화하도록 임플란트의 식립 부위와 개수를 결정하였고, 보철물의 형태를 고려하였으며, 임시수복물에서 심미성과 교합안정성을 평가하였다. 점진적인 임시수복물 조정과정을 통해 적절한 중심교합과 측방운동 시 균형적인 교합을 형성하였으며, 이를 반영한 최종보철물을 제작하여 수복하였다. 현재 안정적으로 기능하고 있으나 전 생애에 걸친 유지관리 치료가 필요하다.

• Archives of Plastic Surgery
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• 제42권4호
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• pp.391-406
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• 2015

Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary disorder that has significant impact on patient morbidity. This study provides a comprehensive review of the natural history, diagnosis, management, and outcomes of the disorder. A literature search in PubMed was conducted to identify cases of MDL from January 1950 to 14 February 2014. After ruling out articles without information related to the management of the disorder, a summary of 32 studies was performed. An additional three cases from the authors are also presented. Based on 57 journal articles and three additional cases from the authors, around 108 cases of MDL were reviewed. Most patients were males who were admitted to a treatment clinic in the first four years of life. The lower extremities were more frequently affected, with unilateral presentation being most common. They commonly underwent a single-staged surgical procedure with follow-up periods ranging from more than one year up to 21 years. Out of 43 cases that underwent surgical procedures, 13 reported no complications, and there were seven cases of esthetic satisfaction and 15 cases of significant functional improvement. Depending on the severity of a patient's condition, the use of non-invasive diagnostic tools should be carefully considered. Surgery might be a better choice of management than observation, taking into account possible future complications in the absence of surgery and the beneficial outcomes of surgical procedures.

• Clinical and Experimental Pediatrics
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• 제63권3호
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Journal of Chest Surgery
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• 제40권11호
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• pp.793-797
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• 2007

Communicating bronchopulmonary foregut malformation (CBPFM)은 매우 드문 선천성 기형으로 격리된 호흡계 조직과 식도 또는 위장 사이의 누관이 특징적이다. 원시위장관에서 기원한 부속의 폐조직이 모든 종류의 bronchopulmonary furegut malformation 발생의 중요한 요인이 된다. 반복되는 폐렴이 있는 환자의 chest X-ray에서 낭성 병변이 보인다면 CBPFM을 생각해봐야 하며, 진단적 방법으로 식도조영술, 기관조영술, 컴퓨터 단층촬영, 자기공명영상 그리고 혈관조영술 등이 도움이 된다. 치료는 수술적 제거가 권장되며 예후도 좋다. 좌측 완전 심낭결손증과 동반되었으며, 이중식도에 연결된 외엽성 폐격리증과 기관지성 낭종을 보인 CBPFM 1예를 보고한다.

• Journal of Korean Neurosurgical Society
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• 제58권5호
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• pp.454-461
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• 2015

Objective : In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods : A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results : Tonsillar herniation length was measured $9.09{\pm}3.39mm$ below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion : Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition.