• Title/Summary/Keyword: Skin abnormalities

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Costello syndrome: three sporadic cases (Costello 증후군 3례)

  • Kim, Ji Youn;Kim, Mi Jeong;Song, Eun Song;Cho, Young Kuk;Choi, Young Youn;Ma, Jae Sook
    • Clinical and Experimental Pediatrics
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    • v.50 no.10
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    • pp.1024-1029
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    • 2007
  • Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.

INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER SYNDROME) WITH DENTAL PROBLEMS : CASE REPORT (색소실조증 환아의 증례보고)

  • Lee, Sang-Yup;Kim, Dae-Eop;Lee, Kwang-Hee
    • Journal of the korean academy of Pediatric Dentistry
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    • v.32 no.4
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    • pp.682-686
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    • 2005
  • Incontinentia pigmenti(IP), so called Block-Sulzberger syndrome is a rare genodermatosis that occurs almost in female infant; usually lethal in males, X-linked dominantly inherited disorder. IP is characterized by abnormalities of mesodermal and ectodermal tissues including eye, tooth, skin, nail, breast and hair as well as neurological deficiencies. Dental problems are congenital missing of teeth, delayed eruption, abnormal crown shape and so on. Here is a case of 6 year-old female with IP. She had congenital missing of primary and permanent teeth, delayed eruption, maxillary deficiency and extra cusps, resulting in unstable occlusion. Systemically, she had a history of operating eyes due to problem of retina and hyperpigmented macules on her trunk and extremities as typical character of IP.

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A Case of Churg-Strauss Syndrome Affecting Lung and Neuromuscular System (폐장 및 신경근계를 침범한 Churg-Strauss 증후군 1예)

  • Song, Hyun-Ju;Cha, Ju-Hyun;Lee, Jin-Hwa;Lee, Ji-A;Sung, Sun-Hui;Koo, Hea-Soo;Kim, You-Kyoung;Chang, Jung-Hyun
    • Tuberculosis and Respiratory Diseases
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    • v.53 no.2
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    • pp.183-189
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    • 2002
  • Churg-Strauss syndrome(CSS) is a systemic vascular disorder that has an unknown cause with multiorgan involvement and diverse presentations. The three main histologically distinct phases were necrotizing vasculitis, tissue eosinophilia and extravascular granulomas. A diagnosis of CSS can be made on four or more of the following six criteria : 1) asthma, 2) peripheral eosinophilia >10% on the differential leukocyte count, 3) mononeuropathy (including multiple) or polyneuropathy, 4) paranasal sinus abnormalities, 5) nonfixed pulmonary infiltrates and 6) biopsy evidence of extravascular eosinophils in the skin, the nerves, or the lungs. CSS has a good prognosis with systemic steroid therapy. The 5 year survival is approximately 70%. We experienced a 66-year-old man who presented with cough, sputum, edema and numbness in both legs. He presented with all of the 6 CSS criteria. A nerve and muscle biopsy confirmed the diagnosis. Here, we report this case with a review of the relevant literatures.

A case of Discoid Lupus Erythematosus (DLE) in a Golden Retriever dog (골든 리트리버종에서 발생한 Discoid Lupus Erythematosus(DLE)의 발생 증례)

  • Won, Dong-Sun;Hong, Eun-Sil;Jung, Man-Bok;Kim, Hyun-Jin;Park, Nam-Yong;Park, Chul;Jung, Byung-Hyun;Park, Hee-Myung
    • Journal of Veterinary Clinics
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    • v.20 no.1
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    • pp.142-144
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    • 2003
  • A 3-year-old, 38 kg, male Golden Retriever dog was referred to Veterinary Teaching Hospital of Konkuk University because of chronic formation of crust on nasal bridge and planum nasale. Abnormalities of physical examination included hyperkeratosis on the footpad, symmetrical alopecia and erythma around olecranon, and crust on nasal bridge and planum nasale. Results of the hematological examination showed a mild leukopenia with neutropenia, monocytosis, and mild lymphocytosis. In addition, the result of serum chemistry and thyroid gland profile were normal. Results of fungal and bacterial culture was negative. Acanthocytes in cytological evaluation of nasal crust were observed in direct microscopic examination. Examination of skin biopsy exhibited vacuolation of basal cell layer, degeneration and necrosis of basal cell with defluxion, mild monocytes filtrations between epidermis and dermis, and mild acanthosis with hyperkeratinization. Based on results of examination described above, Discoid Lupus Erythematosus (DLE) was diagnosed.

Hebei Spirit Oil Spill Exposure and Subjective Symptoms in Residents Participating in Clean-Up Activities

  • Cheong, Hae-Kwan;Ha, Mi-Na;Lee, Jong-Seong;Kwon, Ho-Jang;Ha, Eun-Hee;Hong, Yun-Chul;Choi, Ye-Yong;Jeong, Woo-Chul;Hur, Jong-Il;Lee, Seung-Min;Kim, Eun-Jung;Im, Ho-Sub
    • Environmental Analysis Health and Toxicology
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    • v.26
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    • pp.7.1-7.9
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    • 2011
  • Objectives: This study was conducted to examine the relationship between crude oil exposure and physical symptoms among residents participating in clean-up work associated with the Hebei Spirit oil spill, 2007 in Korea. Methods: A total of 288 residents responded to a questionnaire regarding subjective physical symptoms, sociodemographic characteristics and clean-up activities that occurred between two and eight weeks after the accident. Additionally, the urine of 154 of the respondents was analyzed for metabolites of volatile organic compounds (VOCs) and polycyclic aromatic hydrocarbons (PAHs) and heavy metals. To compare the urinary levels of exposure biomarkers, the urine of 39 inland residents who were not directly exposed to the oil spill were analyzed. Results: Residents exposed to oil remnants through clean-up work showed associations between physical symptoms and the exposure levels defined in various ways, including days of work, degree of skin contamination, and levels of some urinary exposure biomarkers of VOCs, metabolites and metals, although no major abnormalities in urinary exposure biomarkers were observed. Conclusions: This study provides evidence of a relationship between crude oil exposure and acute human health effects and suggests the need for follow-up to evaluate the exposure status and long-term health effects of clean-up participants.

Surgical Correction of Disfiguring Plexiform Neurofibroma Using an Anterolateral Thigh Free Flap (거대 층상 신경 섬유종 절제 후 전외측 대퇴부 유리피판술을 이용한 재건)

  • Kim, Seong-Ki;Roh, Si-Gyun;Lee, Nae-Ho;Yang, Kyung-Moo
    • Archives of Plastic Surgery
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    • v.38 no.5
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    • pp.679-682
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    • 2011
  • Purpose: Neurofibromas of neuroectodermal origin are commonly found in Von Recklinghausens disease or neurofibormatosis type 1. It is an autosomal dominant disease caused by mutation of the long arm of chromosome 17. It can present from small nodules to disfiguring giant tumor. Plexiform neurofibroma is benign in most cases, but it could be transformed into malignant tumor, which requires surgical excision. To cover the defects after the excision, a number of surgical correction methods are available. This study is to report a surgical correction of disfiguring plexiform neurofibroma using anterolateral thigh free flap for extensive defects after surgical excision of neurofibrona. Methods: Data of five neurofibroma patients with an average age of 39 including medical history, physical examination, computed tomography, and magnetic resonance imaging were checked. No disease other than neurofibroma were detected. Biopsy on the excised tissues was performed. The follow-up period was 7 to 27 months. Results: The average size of defects after complete excision of neurofibroma was $13{\times}10{\sim}25{\times}15$ cm. Defects were covered by anterolateral thigh free flap, while donor sites were covered by local flap, split thickness skin graft and regional flap. Throughout follow-up, there were no complication, relapse, or any abnormalities. Conclusion: Despite various surgical correction methods are applicable to defects after excision on disfiguring plexiform neurofibroma, coverage of massive defects is still challenging in plastic and reconstructive surgeon. We have made five successful cases of surgical correction of disfiguring plexiform neurofibroma using anterolateral thigh free flap.

Cow Residual Feed Intake(RFI) monitoring and metabolic abnormality prediction system using wearable device for Milk cow and Beef

  • Chang, Jin-Wook;Kwak, Ho-Young
    • Journal of the Korea Society of Computer and Information
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    • v.26 no.10
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    • pp.139-145
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    • 2021
  • In this paper, by using the cattle feed intake, rumination, and in heat monitoring technology, RFI (Residual Feed Intake) monitoring and wearable devices and PCs for predicting abnormalities in budding target web and smart A monitoring system using a phone application was designed and implemented. With the development of this system, the farmer is expected to increase economic efficiency. By analyzing the feed intake, it is possible to identify the difference between the recommended feed amount based on the cow's weight and the feed amount consumed by the cow, and it is expected that early detection of metabolic disorders (abnormality of metabolism) is possible. Farmers using the results of this thesis can distinguish the cows with the most efficient performance, and the 6-axis motion sensor signals input from the wearable device attached to the cow's skin (neck) and the microphone attached to the wearable device. It is possible to measure the cow's rumination and feed intake through the sound of the cow's throat. In the future, improvements will be made to measure additional vital signs such as heart rate and respiration.

Determination of Scattered Radiation to the Thyroid Gland in Dental Cone Beam Computed Tomography

  • Wilson Hrangkhawl;Winniecia Dkhar;T.S. Madhavan;S. Sharath;R. Vineetha;Yogesh Chhaparwal
    • Journal of Radiation Protection and Research
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    • v.48 no.1
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    • pp.15-19
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    • 2023
  • Background: Cone beam computed tomography (CBCT) is a specialized medical equipment and plays a significant role in the diagnosis of oral and maxillofacial diseases and abnormalities; however, it is attributed to risk of exposure of ionizing radiation. The aim of the study was to estimate and determine the amount of scattered radiation dose to the thyroid gland in dental CBCT during maxilla and mandible scan. Materials and Methods: The average scattered radiation dose for i-CAT 17-19 Platinum CBCT (Imaging Sciences International) was measured using a Multi-O-Meter (Unfors Instruments), placed at the patient's neck on the skin surface of the thyroid cartilage, with an exposure parameter of 120 kVp and 37.07 mAs. The surface entrance dose was noted using the Multi-O-Meter, which was placed at the time of the scan at the level of the thyroid gland on the anterior surface of the neck. Results and Discussion: The surface entrance dose to the thyroid from both jaws scans was 191.491±78.486 µGy for 0.25 mm voxel and 26.9 seconds, and 153.670±74.041 µGy from the mandible scan, whereas from the maxilla scan the surface entrance dose was 5.259±10.691 µGy. Conclusion: The surface entrance doses to the thyroid gland from imaging of both the jaws, and also from imaging of the maxilla and mandible alone were within the threshold limit. The surface entrance dose and effective dose in CBCT were dependent on the exposure parameters (kVp and mAs), scan length, and field of view. To further reduce the radiation dose, care should be taken in selecting an appropriate protocol as well as the provision of providing shielding to the thyroid gland.

Cutaneous Xanthoma in a Dog

  • Yeonhoo Jung;Moonseok Jang;Rahye Kang;Wanghui Lee;Seongjun Park
    • Journal of Veterinary Clinics
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    • v.40 no.5
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    • pp.382-386
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    • 2023
  • A 2-year-old, 12.5 kg, castrated male, mixed-breed dog was presented with a 1-year history of pruritus and progressive alopecia. On physical examination, no remarkable findings were detected including body condition score (5/9). A dermatological examination of the dog revealed generalized erythema, papules or plaques, especially on the face, auricle, dorsum, and shoulder. A fine-needle aspiration of the dorsum and face lesions revealed various numbers of macrophages with foamy cytoplasm and multinucleated giant cells. A bacterial culture test showed the growth of Staphylococcus pseudintermedius. A complete blood cell count was unremarkable and biochemical abnormalities included hyperglobulinemia (4.8 g/dL, reference interval 2.5-4.5 g/dL), mild hypertriglyceridemia (277 mg/dL, reference interval 10-100 mg/dL) and mild hypercholesterolemia (383 mg/dL, reference interval 110-320 mg/dL). Additional diagnostic tests were performed to identify the underlying cause of hyperlipidemia. Canine pancreatic lipase immunoreactivity (<50 ng/mL, reference interval 0-200 ng/mL) and total T4 (1.4 ㎍/dL, reference interval 1.1-5.6 ㎍/dL) were within the reference intervals. For a definitive diagnosis, skin biopsy specimen was collected from the papular lesions on the dorsum by using a 4 mm biopsy punch. A histopathological examination revealed numerous large macrophages with abundant foamy cytoplasm in the dermis. The foamy macrophages were located diffusely between the collagen fibers. Extracellular amorphous lipid deposits were also presented in the dermal tissue. A definitive diagnosis of cutaneous xanthoma was made based on clinical signs and cytological and histopathological results.

Effects of Concrete and Wood Building Environments on Pregnant Dams and Embryo-Fetal Development in Rats

  • Shin, In-Sik;Kim, Sung-Hwan;Lim, Jeong-Hyeon;Lee, Jong-Chan;Park, Na-Hyeong;Shin, Dong-Ho;Moon, Chang-Jong;Kim, Sung-Ho;Kim, Jong-Choon
    • Toxicological Research
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    • v.25 no.4
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    • pp.209-216
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    • 2009
  • We have recently reported that the continuous exposure of rats to a concrete building environment under cool temperatures had adverse effects on general health parameters and embryo-fetal development. This study examined to compare the potential effects of concrete and wood building environments on pregnant dams and embryo-fetal development in rats. Groups of 10 mated females were exposed to polycarbonate (control), concrete, or wood cages from gestational days (GD) 0 to 20 under cool temperatures $(11.9\sim12.3^{\circ}C)$. All the females underwent a caesarean section on GD 20, and their fetuses were examined for any morphological abnormalities. The temperatures in the cages were similar in all groups but the relative humidity in the concrete and wood groups were higher than in the control group. The concentration of volatile organic compounds in the wood group was higher than in the control group. In the concrete group, maternal effects manifested as an increase in the incidence of clinical signs, a lower body weight, and a decrease in the thymus and ovary weights. Developmental effects included increased post-implantation loss and decreased litter size. Infrared thermal analysis showed that the skin temperature of the rats in the concrete group was lower than that in the control group. In contrast, there were no exposure-related adverse effects on the maternal and developmental parameters in the wood group. Overall, the exposure of pregnant rats to a concrete building environment under cool temperatures has adverse effects on the clinical signs, body weight, skin temperature, organ weight, and embryo-fetal development. On the other hand, exposure to a wood building environment does not have any adverse effects in rats.