• Clinical and Experimental Pediatrics
• /
• v.57 no.6
• /
• pp.292-296
• /
• 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.

• The Korean Journal of Cytopathology
• /
• v.4 no.2
• /
• pp.176-180
• /
• 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
• /
• v.33 no.2
• /
• pp.249-251
• /
• 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
• /
• v.51 no.3
• /
• pp.291-297
• /
• 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
• /
• v.10 no.1
• /
• pp.16-22
• /
• 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
• /
• v.18 no.2
• /
• pp.132-136
• /
• 2014

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develop in individuals with TSC. Individuals with TSC may require ongoing treatment that can be adapted for each arising manifestation of renal disease. Herein, we report 4 patients with TSC who presented with a range of different renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, renal cyst, and nephrolithiasis.

• Journal of Chest Surgery
• /
• v.22 no.2
• /
• pp.272-289
• /
• 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.

• Journal of Veterinary Clinics
• /
• v.26 no.6
• /
• pp.616-618
• /
• 2009

A 5-year-old Pekinese dog was presented for evaluation of a back mass of 1 year duration. Fine needle aspiration cytology of the mass revealed numerous keratinocytes, and a lesser number of multinucleated giant cells along with a low number of spindle cells, which were suggestive of epidermal cyst or hair follicle tumor with secondary granulomatous inflammation. The mass was surgically removed and examined histologically. Microscopically there was partially encapsulated well-demarcated nodule in deep dermis and subcutis. The nodule consisted of central cyst and secondary cysts that were lined by a single or multiple layers of basaloid cells and squamous epitheliums with central laminated keratin. Multifocal aggregation of numerous macrophages and multinucleated giant cells were present. The final diagnosis was keratoacanthoma with granulomatous inflammation. The mass did not recur 5 months after surgery.

• Journal of Korean Neurosurgical Society
• /
• v.65 no.3
• /
• pp.430-438
• /
• 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.

• Journal of Korean Foot and Ankle Society
• /
• v.28 no.1
• /
• pp.27-30
• /
• 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.