• Title/Summary/Keyword: Congenital defects

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Cardiac biomarkers for early detection of heart diseases in small animals

  • Hyun, Chang-Baig
    • Proceedings of the Korean Society of Veterinary Clinics Conference
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    • 2009.04a
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    • pp.137-150
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    • 2009
  • Background: Heart failure can develop secondary to various heart diseases (e.g. mitral valvular insufficiency, congenital heart defects, heart worm infection). The clinical signs of heart failure can be confused with those of other conditions, such as respiratory disease. Therefore, specific, sensitive, rapid and inexpensive blood tests for heart failure are desirable. Cardiac troponins, natriuretic peptides and cytokines have been more recently used as indicators of heart disease in humans and animals. These peptides are sensitive to changes in vasoconstriction and dilation within the heart and are used for the diagnosis and prognosis of heart failure. Methods: Previously developed and newly developed cardiac biomarkers will be discussed for understating clinical implications and diagnostic values in heart diseases in small animals

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Numerical Investigation of Hemodynamics in a Bileaflet Mechanical Heart Valve using an Implicit FSI Based on the ALE Approach

  • Hong, Tae-Hyub;Choi, Choeng-Ryul;Kim, Chang-Nyung
    • Proceedings of the KSME Conference
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    • 2008.11b
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    • pp.2410-2414
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    • 2008
  • Human heart valves diseased by congenital heart defects, rheumatic fever, bacterial infection, cancer may cause stenosis or insufficiency in the valves. Treatment may be with medication but often involves valve repair or replacement (insertion of an artificial heart valve). Bileaflet mechanical heart valves (BMHVs) are widely implanted to replace the diseased heart valves, but still suffer from complications such as hemolysis, platelet activation, tissue overgrowth and device failure. These complications are closely related to both flow characteristics through the valves and leaflet dynamics. In this study, the physiological flow interacting with the moving leaflets in a bileaflet mechanical heart valve (BMHV) is simulated with a strongly coupled implicit fluid-structure interaction (FSI) method which is newly organized based on the Arbitrary-Lagrangian-Eulerian (ALE) approach and the dynamic mesh method (remeshing) in FLUENT. The simulated results are in good agreement with previous experimental studies. This study shows the applicability of the present FSI model to the complicated physics interacting between fluid flow and moving boundary.

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Gene Targeting Mouse Genetic Models for Cleft Lip and Palate (구순구개열 발생의 분자유전학 연구를 위한 유전자 표적/적중 생쥐모델의 이용)

  • Baek, Jin-A
    • Korean Journal of Cleft Lip And Palate
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    • v.11 no.2
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    • pp.65-70
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    • 2008
  • Cleft lip and/or palate are common birth defects in humans and the causes including multiple genetic and environmental factors are complex. Combinations of genetic, biochemical, and embryological approaches in the laboratory mice are used to investigate the molecular mechanisms underlying normal craniofacial development and the congenital craniofacial malformations including cleft lip and/or palate. Both forward and reverse genetic approaches are used. The forward genetic approach involves identification of causative genes and molecular pathways disrupted by uncharacterized mutations that cause craniofacial malformations including cleft lip and/or cleft palate. The reverse genetic approach involves generation and analyses of mice carrying null or conditional mutations using the Cre-loxP mediated gene targeting techniques.

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Rare Cleft of the Nose (코에 국한된 희귀 안면 갈림)

  • Lee, Jung Ho;Song, Jin Kyung;Byeon, Jun Hee
    • Archives of Plastic Surgery
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    • v.32 no.5
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    • pp.667-670
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    • 2005
  • Congenital facial cleft is a rare entity and appears along by the line of different processes of the facial development. An isolated cleft of the nose has been reported not often in the literature. We treated a patient with an isolated nasal cleft associated with undefined cranial anomaly. On 3D CT scan was seen a bony cleft traversing the pyriform aperture lateral to the anterior nasal spine. The nasal septum and frontal process of the maxilla were intact. There also was found bilateral bony defects in the frontal bone and bilateral frontal boss. The nasal cleft and frontal defect and boss were corrected by two stages: anterior two-third of the cranial vault with bilateral frontal boss was remodeled at the age of two years and the nasal cleft was repaired with a local rotation flap at age 3.

Total anomalous pulmonary venous connection (supracardiac type: report of 3 cases) (심장상부 환류형 총폐정맥환류이상증의 수술치험 3례 보고)

  • 김은기
    • Journal of Chest Surgery
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    • v.16 no.3
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    • pp.322-330
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    • 1983
  • TAPVC represents 1 to 4% of all congenital cardiac defects. Generally severe and refractory cardiac failure develops in the majority of patients in the early infancy. In a small minority of patient, they are relatively asymptomatic in infancy, but symptoms will develop of necessity In the later life. Our three cases had dyspnea on exertion and cyanosis and had a history of frequent respiratory infections. All 3 cases had the typical showman configuration on roentgenograms of the chest. Current surgical therapy has greatly altered the unfavorable course of these patients after institution of extra-corporeal circulation. We have experienced three cases from June, 1973 to May, 1983, the patients were undergone complete repair with extracorporeal circulation at the Department of Thoracic and Cardiovascular Surgery in the Yonsei University. The ages ranged from 12 years to 14 years, all cases were supracardiac type of TAPVC. Only one case died due to bleeding from anastomosis site between LA and pulmonary venous trunk. In the remaining two patients with complete corrections of TAPVC, there was excellent relief of symptoms such as dyspnea and cyanosis. Their postoperative course have been good during follow-up.

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Surgical treatement of complex cardiac malformations (복잡심기형의 외과적 치료)

  • 조형곤
    • Journal of Chest Surgery
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    • v.19 no.1
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    • pp.122-133
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    • 1986
  • Thirteen patients with cyanotic cardiac malformations having more complex intracardiac defects, hemodynamics and operative procedures than ones in Tetralogy of Fallot undertaken total surgical corrections from July 1981 to August 1985. The cases of corrective surgery for complex cardiac malformations were 3.9% of all congenital cardiac malformations and 12.6% of cyanotic cardiac malformations. Six patients died within 30 days after surgery. So operative mortality was 46%; Transposition of the great arteries, two of 4 patients, due to low cardiac output syndrome and tracheal bleeding ; Univentricular heart, one of 3 patients, due to bleeding; Corrected transposition of the great arteries, one of 2 patients, due to acute heart failure; Tricuspid atresia, one of 2 patients, due to low cardiac output syndrome; Double outlet right ventricle, one of single patient, due to respiratory failure. The cases of surgical correction for complex cardiac malformations are progressively increasing in numbers. The more accurate evaluation of anatomical condition and hemodynamics in preoperative diagnosis, studies on applicable surgical procedure and perioperative care of patients are necessary in the improvement of clinical and surgical results.

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Report of Eight Cases of Cor Triatriatum (삼중방심 치험 8례보고)

  • 서연호;김민호;김공수
    • Journal of Chest Surgery
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    • v.32 no.12
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    • pp.1111-1114
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    • 1999
  • Cor triatriatum is a rare congenital heart disease that is often lethal in children if not correctly identified and properly managed, Characteristically an anomalous membrane divides the left atrium into two chambers one located posterosuperiorly which is connected to the common pulmonary venous trunk and the other anteroinferiorly which is connected to the left atrial appendage and the mitral valve. Eight patients with Cor triatriatum were been seen at our hospital from 1984 to 1999. The clinical presentation diagnostic evaluation and surgical results are outlined in this retrospective review. Resection of the obstructing anomalous atrial membrane was performed using a hypothermic cardiopulmonary bypass in all cases. Right atriotomy was performed in all patients and left atriotomy was performed in a patient who had poor preoperative general conditions and serious cardiac defects(TAPVR & hypoplastic left ventricle) died of low cardiac output during the immediate postoperative period. The postoperative course has been excellent in the remaining. Cor triatriatum is amenable to surgical repair with excellent results when diagnosed early and in those who are not complicated by other complex cardiac anomalies.

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Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat

  • Seo, Sang-Hyuk;Choi, Miru;Hyun, Changbaig
    • Korean Journal of Veterinary Research
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    • v.56 no.1
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    • pp.53-55
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    • 2016
  • A 1-year-old Korean domestic short-haired cat presented with skin hyperextensibility and a severely macerated wound on the skin of the dorsal part of the neck. Diagnostic studies including histopathology and skin extensibility index revealed congenital cutaneous asthenia (Ehlers-Danlos syndrome). In this cat, the skin wounds and defects were successfully managed with standard wound management and cosmetic surgery. Although skin hyperextensibility is persistent, the cat has lived well without other complications to date. To the best of our knowledge, this is the first report of cutaneous asthenia in a cat in Korea.

Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith-Wiedemann and Silver-Russell syndromes

  • Shin, Young-Lim
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.24-30
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    • 2021
  • Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

  • Lee, Chan Young;Lee, Na Mi;Yi, Dae Yong;Yun, Sin Weon;Chae, Soo Ahn;Lim, In Seok;Kim, Gwang Jun
    • Perinatology
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    • v.29 no.4
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    • pp.185-188
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    • 2018
  • Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.