• 제목/요약/키워드: congenital anomaly

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양측성 상완이두장건 결손과 견관절 불안정성 - 증례 보고 - (Shoulder instability with congenital absence of bilateral long head of biceps tendon - A Case Report -)

  • 나중호;정회정;김두섭
    • 대한관절경학회지
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    • 제14권3호
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    • pp.188-191
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    • 2010
  • 상완이두장건의 결손은 매우 드문 이상이다. 본원에 내원한 19세 남환은 우측 견관절 아탈구 증상을 주소로 내원하였다. MRI 상 상완골의 얕은 결절사이고랑이 관찰되었으며 상완이두장건의 결손이 관찰되었다. 견관절 내시경술을 시행하였으며 관절와순 파열과 함께 상완이두장건의 결손이 관찰되었다. 5개월 뒤 좌측 견관절에도 우측 견관절과 같은 증상이 발생하였고 MRI 및 견관절 내시경 소견 상 상완이두장건의 결손 소견 및 관절와순 파열 소견이 관찰되었다. 양측 견관절 모두 내시경적 관절와순 봉합술을 시행하였으며 수술 후 위팔 외전 보조기를 이용하여 고정하였다. 상완이두장건의 결손이 견관절의 불안정성을 유발할 수 있을 것이라고 생각한다.

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종교상의 이유로 수혈을 거부하여 사망한 메틸 말로닌산 혈증 환아 2례 (Two Cases of Methylmalonic Acidemia where Refusal to Blood Transfusion Led to Death)

  • 장하원;이용욱;장미영;길홍량;김숙자
    • 대한유전성대사질환학회지
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    • 제18권2호
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    • pp.50-54
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    • 2018
  • Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.

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Reliability of the EOS Imaging System for Assessment of the Spinal and Pelvic Alignment in the Sagittal Plane

  • Kim, Sang Bum;Heo, Youn Moo;Hwang, Cheol Mog;Kim, Tae Gyun;Hong, Jee Young;Won, You Gun;Ham, Chang Uk;Min, Young Ki;Yi, Jin Woong
    • Clinics in Orthopedic Surgery
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    • 제10권4호
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    • pp.500-507
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    • 2018
  • Background: The sagittal alignment of the spine and pelvis is not only closely related to the overall posture of the body but also to the evaluation and treatment of spine disease. In the last few years, the EOS imaging system, a new low-dose radiation X-ray device, became available for sagittal alignment assessment. However, there has been little research on the reliability of EOS. The purpose of this study was to evaluate the intrarater and interrater reliability of EOS for the sagittal alignment assessment of the spine and pelvis. Methods: Records of 46 patients were selected from the EOS recording system between November 2016 and April 2017. The exclusion criteria were congenital spinal anomaly and deformity, and previous history of spine and pelvis operation. Sagittal parameters of the spine and pelvis were measured by three examiners three times each using both manual and EOS methods. Means comparison t-test, Pearson bivariate correlation analysis, and reliability analysis by intraclass correlation coefficients (ICCs) for intrarater and interrater reliability were performed using R package "irr." Results: We found excellent intrarater and interrater reliability of EOS measurements. For intrarater reliability, the ICC ranged from 0.898 to 0.982. For interrater reliability, the ICC ranged from 0.794 to 0.837. We used a paired t-test to compare the values measured by manual and EOS methods: there was no statistically significant difference between the two methods. Correlation analysis also showed a statistically significant positive correlation. Conclusions: EOS showed excellent reliability for assessment of the sagittal alignment of the spine and pelvis.

복부 연조직 농양 환자에서 농양 배양을 혈액배양병으로 했을 때의 성과 1예 (Diagnostic Performance of Blood Culture Bottles for Abscess Culture in Patient with Abdominal Soft Tissue Abscess)

  • 조교진;장철훈;황재연;박수은
    • Pediatric Infection and Vaccine
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    • 제28권2호
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    • pp.118-123
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    • 2021
  • 세균 감염에서 적절한 항생제를 선택하려면 배양검사가 매우 중요하다. 저자들은 복부 연조직 감염의 농양을 혈액배양병을 사용하여 시행한 배양검사에서 Actinomyces radingae와 Clostridium ramosum이 배양된 증례를 경험하여 보고하고자 한다. 이전에 건강하였던 13세 남자 환자가 배꼽주변에 발생한 통증, 발적 및 발열을 주소로 응급실에 내원하였다. 환아는 복부 수술 및 외상의 병력은 없었다. 컴퓨터 단층 촬영에서 배꼽주위에 농양을 동반한 피부 연조직염이 확인되었고 선천성 기형은 없었다. 초음파 유도 흡인을 하여 8.5 mL의 화농성 농양이 흡인되었고, 농양은 혈액배양병을 이용하여 배양하였다. 농양 배양검사에서 A. radingae와 C. ramosum이 확인되었다. 감염증의 원인이 드문 세균일 가능성이 있는 경우 농양 배양을 할 때 일반적인 농양배양의 방법 보다는 혈액배양병을 사용하는 것이 원인균이 분리될 가능성을 높이고 더 빨리 확인할 수 있을 것으로 사료된다.

Disorders of Secondary Neurulation : Mainly Focused on Pathoembryogenesis

  • Yang, Jeyul;Lee, Ji Yeoun;Kim, Kyung Hyun;Wang, Kyu-Chang
    • Journal of Korean Neurosurgical Society
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    • 제64권3호
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    • pp.386-405
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    • 2021
  • Recent advancements in basic research on the process of secondary neurulation and increased clinical experience with caudal spinal anomalies with associated abnormalities in the surrounding and distal structures shed light on further understanding of the pathoembryogenesis of the lesions and led to the new classification of these dysraphic entities. We summarized the changing concepts of lesions developed from the disordered secondary neurulation shown during the last decade. In addition, we suggested our new pathoembryogenetic explanations for a few entities based on the literature and the data from our previous animal research. Disordered secondary neurulation at each phase of development may cause corresponding lesions, such as failed junction with the primary neural tube (junctional neural tube defect and segmental spinal dysgenesis), dysgenesis or duplication of the caudal cell mass associated with disturbed activity of caudal mesenchymal tissue (caudal agenesis and caudal duplication syndrome), failed ingression of the primitive streak to the caudal cell mass (myelomeningocele), focal limited dorsal neuro-cutaneous nondisjunction (limited dorsal myeloschisis and congenital dermal sinus), neuro-mesenchymal adhesion (lumbosacral lipomatous malformation), and regression failure spectrum of the medullary cord (thickened filum and filar cyst, low-lying conus, retained medullary cord, terminal myelocele and terminal myelocystocele). It seems that almost every anomalous entity of the primary neural tube may occur in the area of secondary neurulation. Furthermore, the close association with the activity of caudal mesenchymal tissue in secondary neurulation involves a wider range of surrounding structures than in primary neurulation. Although the majority of the data are from animals, not from humans and many theories are still conjectural, these changing concepts of normal and disordered secondary neurulation will provoke further advancements in our management strategies as well as in the pathoembryogenetic understanding of anomalous lesions in this area.

Comparative evaluation of nasal and alveolar changes in complete unilateral cleft lip and palate patients using intraoral and extraoral nasoalveolar molding techniques: randomized controlled trial

  • Kalaskar, Ritesh;Bhaje, Priyanka;Sharma, Priyanka;Balasubramanian, Shruti;Ninawe, Nupur;Ijalkar, Rajesh
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제47권4호
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    • pp.257-268
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    • 2021
  • Objectives: Cleft lip and palate is a common congenital anomaly that impairs the aesthetics, speech, hearing, and psychological and social life of an individual. To achieve good aesthetic outcomes, presurgical nasoalveolar molding (NAM) has become important. Currently, the intraoral NAM technique is widely practiced. Numerous modifications have been made to intraoral NAM techniques, but the original problem of compliance leading to discontinuation of treatment remains unsolved. Therefore, the present study compared an extraoral NAM technique with the intraoral NAM technique. Materials and Methods: Twenty infants with complete unilateral cleft lip and palate were included and divided into two equal groups. Group A received the intraoral NAM technique, and Group B received the extraoral NAM technique. Pre- and postoperative extraoral and intraoral measurements were recorded. Results: Groups A and B did not differ significantly in any extraoral or intraoral parameter. Conclusion: The extraoral NAM technique is as effective as the intraoral NAM technique in achieving significant nasal and alveolar changes in complete unilateral cleft lip and palate patients. Additionally, it reduces the need for frequent hospital visits for activation and the stress associated with the insertion and removal of the intraoral NAM plate, thereby improving compliance.

Postoperative Complications of Esophageal Atresia and Role of Endoscopic Balloon Dilatation in Anastomotic Strictures

  • Cho, Jin Young;Chang, Mea-young;Gang, Mi Hyeon;Lee, Yong Wook;Park, Jun Beom;Kim, Jae Young;Kim, Hyun Jin
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제25권6호
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    • pp.453-460
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    • 2022
  • Purpose: Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a congenital anomaly that can cause frequent digestive and nutritional problems, even after repair. The most common complication is anastomotic stricture, for which reoperation or balloon dilatation is performed. This study aimed to evaluate the postoperative complications of EA and the role of endoscopic balloon dilatation (EBD) in cases of anastomotic stricture. Methods: We retrospectively analyzed patients diagnosed with EA with or without TEF between January 2000 and February 2021. Patients' baseline characteristics, associated anomalies, and postoperative complications were reviewed. Results: Among 26 patients, 14 (53.8%) were male, 12 (46.2%) had coexisting anomalies, and the median follow-up was 6.1 years (range, 1.2-15.7 years). In univariate analysis, prematurity, low birth weight, and long-gap EA were associated with postoperative complications in 12 (46.2%) patients. Among the 10 (38.5%) patients with anastomotic stricture, nine (90.0%) required EBD. Regarding the first EBD, it was performed at a median of 3.3 months (range, 1.2-7.6 months) post-repair, while the average patient weight was 4.6 kg. The mean diameter ranged from 3.3 to 9.1 mm without major complications. In univariate analysis, long-gap EA alone was significantly associated with EBD. Conclusion: Approximately half of the patients experienced complications after EA repair. In particular, patients with a long-gap EA had a significantly increased risk of complications, such as anastomotic strictures. EBD can be safely used, even in infants.

Standardized surgical strategy for the treatment of preauricular sinus to reduce recurrence

  • Hannara Park;Jaemin Seong;Hyouchun Park;Hyeonjung Yeo
    • 대한두개안면성형외과학회지
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    • 제24권5호
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    • pp.223-229
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    • 2023
  • Background: Preauricular sinus (PAS) is a common congenital anomaly, and complete excision is recommended to prevent recurrence. However, PAS has a high recurrence rate as a result of incomplete removal due to the high variability of the sinus ramifications, making its treatment challenging. In this study, we standardized the surgical procedure to reduce the complications and recurrence rate and compared the postoperative results between the non-standardized and the standardized groups. Methods: This retrospective study included 97 patients (120 ears) who had undergone PAS excision by a single surgeon between October 2014 and September 2022 and underwent at least 6 months of follow-up. After October 2018, all patients were treated using the standardized method, which comprised the use of magnifying glasses, exploration with a lacrimal probe, the use of methylene blue staining, and excision of a piece of surrounding normal tissue and related cartilage in continuity with the specimen. There were 38 patients (45 ears) in the non-standardized group and 59 patients (75 ears) in the standardized group. Results: Recurrence was observed in six of 120 ears, indicating an overall recurrence rate of 5.0%. Recurrence occurred in five ears (11.1%) in the non-standardized group and one ear (1.3%) in the standardized group. The standardized group had a significantly lower recurrence rate (p= 0.027) than the non-standardized group. Conclusion: We defined a standardized sinectomy protocol and used it for the surgical treatment of PAS. With this standardized method, we were able to reduce the rates of complications and recurrence without the use of a long incision.

고령에서 일측성 간질성 폐질환으로 보이는 일측성 폐정맥 폐쇄: 흉부 X선 사진의 시계열적 변화와 문헌 고찰 (Unilateral Pulmonary Vein Atresia Initially Presenting as Interstitial Lung Disease in an Elderly Female: Serial Chest Radiograph Changes and Its Literature Review)

  • 심영우;박종민;박병건;임재광;신경민;김영선
    • 대한영상의학회지
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    • 제83권2호
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    • pp.372-377
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    • 2022
  • 일측성 폐정맥 폐쇄는 총폐정맥이 좌심방내로 연결되는 못하는 드문 심혈관계 기형이다. 일측성 폐정맥 폐쇄는 흔히 어린 시기에 진단이 되며, 성인이 된 이후에 진단이 되는 경우는 극히 드물다. 성인 환자에서 활동 시 호흡곤란과 객혈이 흔한 임상증상이다. 폐실질의 이상은 폐정맥 폐쇄의 간접적인 소견이며, 간질성 폐질환으로 나타날 수 있다. 우리는 62세 여자 환자에서 일측성 간질성 폐질환을 보이는 일측성 폐정맥 폐쇄의 증례와 12년간의 흉부 X선 사진 소견의 변화를 보고하고자 한다.

좌심방 부속기 동맥류: 증례 보고 (Left Atrial Appendage Aneurysm: A Case Report)

  • 최영재;김정숙;차윤기;한강민
    • 대한영상의학회지
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    • 제83권6호
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    • pp.1400-1405
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    • 2022
  • 좌심방 부속기 동맥류는 심장 빗살근의 선천성 이형성이나 승모판 또는 심근의 후천적 병변에 의해 생길 수 있는 매우 드문 심장 질환이다. 주로 흉부 CT나 심초음파에서 좌심방이 비정상적 팽창되어 우연히 발견되며, 환자의 대부분은 무증상이지만 생명을 위협하는 합병증과 관련이 있어 외과적 치료를 필요로 한다. 그러므로 정확한 진단과 함께 이에 동반된 합병증을 찾아내는 것은 중요하다. 본 증례 보고에서는 수술적 치료로 확진 된 53세 여성의 좌심방 부속기 동맥류를 소개하고 병태생리학을 바탕으로 진단과 함께 놓치지 말아야 할 합병증에 대한 CT 및 MRI 검사의 소견을 소개하고자 한다.