• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• 대한세포병리학회지
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• 제4권2호
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• pp.176-180
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• 1993

Clonorchiasis is common in Korea. The coinfection of amebic abscess with clonorchiasis is not rare in endemic areas. The coinfection may influence on its manifestations each other. We experienced a human case with unusal manifestation of amebic liver abscess associated with coinfection by Clonorchisis sinensis. The case was an 80-year-old female. She lived in Yongil-gun, Kyongsangbuk-do, Korea, She had multiple amebic abscess cavities in the liver, one of which subsided spontaneously and others newly appeared. She was diagnosed by CT guided aspiration of the cyst, which revealed trophozoites of ameba and eggs of C. sinensis. She was treated with praziquantel and metronidazale and was cured.

• Archives of Plastic Surgery
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• 제33권2호
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• pp.249-251
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• 2006

Human cysticercosis is an infestation with C. cellulosae, the larval stage of the tapeworm T. solium. It prevails in regions of poverty and where personal hygiene is poor. They can lodge in almost any tissue, but cysticerci are most frequently found in brain, skeletal muscle, subcutaneous tissues. We experienced a 41-year old male with $5{\times}12cm$ sized movable non tender brownish hard mass at lateral abdominal wall. The laboratory study didn't show any specific symptoms except peripheral blood eosinophilia and positive parasite ELISA screen for cysticercosis. The ultrasonogram revealed multiple ill-defined mixed echoic inflamatory lesion. Excisied cyst showed multiple severe foul-odor gelatinous subcutaneous mass. Microscopic examination disclosed necrotic body with foreign body reaction, massive eosinophilia and dead parasitic organism, compatible with cysticercosis. There was no evidence of recurrence during 12 months follow-up.

• Imaging Science in Dentistry
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• 제51권3호
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• pp.291-297
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• 2021

Purpose: This study was performed to evaluate the prevalence, distribution, and radiological features (as per the Shear classification) of dentigerous cysts in a Lebanese sample. Materials and Methods: It was an epidemiological, cross-sectional, 5-year retrospective study of 137 dentigerous cysts treated at Lebanese Army Dental Departments. The collected data comprised demographic and radiological information corresponding to patients from July 2015 to July 2020. Syndromic cases were excluded. Demographic data and the radiological features of cases were studied and analyzed. Results: Dentigerous cysts were treated in 109 patients (58.7% males and 41.3% females; mean age: 28.3±16.3 years) out of 6,013 patients(52% males and 48% females), with a prevalence of 1.8%. Dentigerous cysts were more commonly found in patients in their second and third decades of life than in older age groups. Of the 109 patients, 22.9% had multiple dentigerous cysts. Of the 137 cysts, 71.5% were mandibular. The most prevalent anatomical location was the posterior mandible, followed by the posterior maxilla. The most commonly involved tooth was the mandibular third molar. Regarding radiological types, the central type was the most common (60.6%), followed by the lateral type (29.2%), and the circumferential type (10.2%). Conclusion: The results of this study were similar to studies of other populations in terms of distribution and features. Multiple non-syndromic dentigerous cysts were more common than reported in other studies, which warrants further clinical studies to reveal previously undetected factors.

• Genomics & Informatics
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• 제10권1호
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• pp.16-22
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• 2012

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of multiple fluid-filled cysts that expand over time and destroy renal architecture. The proteins encoded by the $PKD1$ and $PKD2$ genes, mutations in which account for nearly all cases of ADPKD, may help guard against cystogenesis. Previously developed mouse models of $PKD1$ and $PKD2$ demonstrated an embryonic lethal phenotype and massive cyst formation in the kidney, indicating that $PKD1$ and $PKD2$ probably play important roles during normal renal tubular development. However, their precise role in development and the cellular mechanisms of cyst formation induced by $PKD1$ and $PKD2$ mutations are not fully understood. To address this question, we presently created $Pkd2$ knockout and $PKD2$ transgenic mouse embryo fibroblasts. We used a mouse oligonucleotide microarray to identify messenger RNAs whose expression was altered by the overexpression of the $PKD2$ or knockout of the $Pkd2$. The majority of identified mutations was involved in critical biological processes, such as metabolism, transcription, cell adhesion, cell cycle, and signal transduction. Herein, we confirmed differential expressions of several genes including aquaporin-1, according to different $PKD2$ expression levels in ADPKD mouse models, through microarray analysis. These data may be helpful in $PKD2$-related mechanisms of ADPKD pathogenesis.

• Childhood Kidney Diseases
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• 제18권2호
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• pp.132-136
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• 2014

결절성 경화증은 과오종의 발생을 특징으로 하는 유전질환으로, 피부, 뇌, 심장, 눈, 폐, 구강, 신장 등의 다양한 장기들을 침범한다. 신장에서 관찰 가능한 다양한 병변들은 발생 빈도와 사망률이 높기 때문에 주의를 필요로 하며, 신장 증상의 이른 발생 시기를 고려하여 소아 연령에서부터 적절한 진단과 관리가 중요하다. 저자들은 소아 연령에서 발생한 거대 혈관근육지방종, 신세포암, 신경색, 신낭종, 그리고 신결석증 등이 동반된 결절성 경화증 4례를 경험하였기에 보고하는 바이다.

• Journal of Chest Surgery
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• 제22권2호
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• pp.272-289
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• 1989

Benign lung tumors compose a heterogeneous group of solid growths that present variations in clinical features, depending on whether the origin is within the bronchus on lung parenchyma or from visceral pleura. Benign tumors of the lung are relatively uncommon, and series are to be found in the literature and the classification of benign tumors of the lung continues to be controversial because of disagreement concerning the origin and prognosis of many common lesions. We adopt Liebows original classification but excluded bronchial adenoma which no longer considered as benign tumor and added pulmonary A-V fistula and congenital cystic adenomatoid malformation. We analyzed 61 cases of benign tumors which were composed of 16 original Korean cases and 45 cases which were reported on journal of Thoracic & Cardiovascular Surgery. The results were. [1] Incidence; Of 61 cases, chondromatous hamartoma was 2 cases [41 %], congenital cystic adenomatoid malformation 10 cases [16.4 %], pulmonary A-V fistula 5 cases [8.1 %], sclerosing hemangioma 4 cases [6.5 %], teratoma, plasma cell granuloma & mesothelioma were 3 cases [4.9%], Castlemans disease 2 cases [3.3%], and mucous gland adenoma, paraganglioma, and leiomyoma 1 case [1.6 %]. [2] Age & Sex distribution; Male 30 cases and female 31 cases. Mean age was 31.4 years old. [3] Main symptom; was coughing, 32.8%, and no symptom, 24.6%. [4] Sixty eight percentage of chest film showed mass density, and 4 cases showed calcification, 2 cases had lobulation. [5] Size of mass was large and multiple mass was 2 cases. Endobronchial tumors were 9 cases, 14.9 %. [6] Three cases of endobronchial tumor were preoperatively diagnosed by bronchoscopy and 2 cases of pulmonary A-V fistula were diagnosed by pulmonary arteriography. [7] Seven cases, 11.5%, had associating diseases such as bronchogenic cyst, thymic cyst, Schwannoma, situs inversus, bronchiectasis and bronchogenic carcinoma. [8] Minor resection such as excision 8i: wedge resection were 15 cases, 26.2 %, and 6 cases, 75.4 %, of lobectomy were performed including 5 cases of pneumonectomy 5 cases had. [9] Postoperative complications; One case, 1.6 %, expired due to respiratory insufficiency. Two cases had re-operation due to bleeding and hemoptysis.

• 한국임상수의학회지
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• 제26권6호
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• pp.616-618
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• 2009

5세령의 페키니즈 견이 발생된 지 1년 된 등쪽 종괴의 평가를 위해 내원하였다. 종괴의 세침흡인 도말 표본의 세포학 검사에서 많은 수의 각화 상피세포와 거대 다핵 세포, 소수의 방추 세포가 관찰되었다. 세포학 검사결과 육아종성 표피낭 또는 모낭 종양이 의심되었고, 결절은 외과적으로 절제한 후 병리조직학적 검사를 실시하였다. 피하의 결절은 부분적으로 결합조직에 둘러싸여 있었으며, 주변조직과 경계가 명확하였다. 그 결절은 중심의 큰 낭과 주변의 작은 낭으로 이루어져 있었으며, 그 낭은 중심부에 층판상의 케라틴이 존재하였고 단층 또는 중층의 기저세포와 편평 상피세포로 둘러싸여 있었다. 다소성으로 다수의 대식구와 소수의 다핵거대세포가 관찰되었다. 이에 기초하여 육아종성 염증이 동반된 keratoacanthoma로 진단하였다. 종괴는 수술 제거 후 재발되지 않고 있다.

• Journal of Korean Neurosurgical Society
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• 제65권3호
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• pp.430-438
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• 2022

Objective : Dermoid cysts are uncommon in spinal cord tumors, and the phenomenon of their spontaneous rupture into the syrinx cavity is quite rare. We aimed to analyze the imaging characteristics and etiologies, and propose some surgical strategies, for this uncommon phenomenon. Methods : We retrospectively reviewed 14 cases with spinal dermoid cysts that ruptured into the cervical and thoracic syrinx cavity. There were six male and eight female cases, aged 21 to 46 years, who had lipid droplets in the syrinx cavity from C1 to L3. The dermoid cysts were always located at the conus. Based on patients' complaints, clinical manifestations, and imaging results, we adopted tumor excision and/or syrinx cavity aspiration in one stage or multiple stages. Results : Three patients had only a syrinx cavity aspiration surgery due to a history of dermoid cyst excision. Eight patients had dermoid cyst resection and syrinx cavity aspiration in one stage. One patient was operated upon in two stages due to the development of new symptoms at nine months follow-up. Two patients underwent only tumor resection since they did not show similar symptoms or signs caused by the cervicothoracic syrinx. The axial magnetic resonance imaging indicated that the lipid droplets were always not at the center but were eccentric. The clinical effect was satisfactory during the follow-up period in this group. Conclusion : The lipid droplets filled the spinal syrinx cavity, not entirely confined to the central canal. Based on the chief complaints and associated signs, we adopted different surgical strategies and had satisfactory clinical results.

• 대한족부족관절학회지
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• 제28권1호
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• pp.27-30
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• 2024

Several types of soft tissue masses occur in the lower extremities. A mass associated with blood vessels is often difficult to diagnose. A 15-year-old male patient visited the author's hospital with discomfort and edema in his right calf that had persisted for six months. A physical examination showed no palpable mass other than mild edema. Three masses were found during the ultrasound scan along the small saphenous vein. The masses had a cyst-like appearance and were filled with thrombus. In duplex ultrasound, vascular reflux was represented inside the masses. During surgery, it was suspected that vascular deformation occurred in the small saphenous vein, and simple ligation and resection treatments were performed. The patient was finally diagnosed with venous aneurysms accompanied by thrombosis based on the histology tests. The symptoms disappeared after surgery, and there were no recurrences or unusual findings at the follow-up one year later. Venous aneurysms occurring in the superficial veins of the lower extremities are rarely reported, but treatment and diagnosis are important. This paper reports a case of an aneurysm on the small saphenous vein.