• Title/Summary/Keyword: Multiple abnormalities

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LONG TERM FOLLOW-UP OF MULTIPLE ODONTOGENIC KERATOCYSTS ASSOCIATED WITH BASAL CELL NEVUS SYNDROME: A CASE REPORT (기저세포모반 증후군과 관련된 다발성 낭종의 장기 치료결과: 증례보고)

  • Lee, Eun-Young;Kim, Kyoung-Won
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.32 no.1
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    • pp.81-85
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    • 2010
  • Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities with multiple jaw cysts. The odontogenic keratocysts in patients with this syndrome are often associated with the crowns of unerupted teeth and huge size; on radiographs they may mimic dentigerous cysts. The most important feature of the cyst is its extraordinary recurrence rate. Since recurrence may be long delayed in this lesion, follow-up of any case of odontogenic keratocyst with roentgenograms and clinical examination of basal cell carcinoma are essential for at least five years after surgery. We report the result of 7-year follow up after cyst enucleation associated with basal cell nevus syndrome with the literature of review.

Expanding roles of centrosome abnormalities in cancers

  • Soohyun Song;Surim Jung;Mijung Kwon
    • BMB Reports
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    • v.56 no.4
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    • pp.216-224
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    • 2023
  • Centrosome abnormalities are hallmarks of human cancers. Structural and numerical centrosome abnormalities correlate with tumor aggressiveness and poor prognosis, implicating that centrosome abnormalities could be a cause of tumorigenesis. Since Boveri made his pioneering recognition of the potential causal link between centrosome abnormalities and cancer more than a century ago, there has been significant progress in the field. Here, we review recent advances in the understanding of the causes and consequences of centrosome abnormalities and their connection to cancers. Centrosome abnormalities can drive the initiation and progression of cancers in multiple ways. For example, they can generate chromosome instability through abnormal mitosis, accelerating cancer genome evolution. Remarkably, it is becoming clear that the mechanisms by which centrosome abnormalities promote several steps of tumorigenesis are far beyond what Boveri had initially envisioned. We highlight various cancer-promoting mechanisms exerted by cells with centrosome abnormalities and how these cells possessing oncogenic potential can be monitored.

A CASE REPORT OF BASAL CELL NEVUS SYNDROME (기저세포모반 증후군의 1례보고)

  • Ryu, Dong-Mok;Choi, Byung-Jun;Lee, Sang-Chull;Kim, Yeo-Gab;Lee, Baek-Soo
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.28 no.2
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    • pp.136-140
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    • 2002
  • Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressivity. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities, and multiple odontogenic kerato cysts. In 1960, Gorlin and Goltz first described the features of this disease as constituting a true syndrome; since then, it has been realized that it is much more complex and encompassing than initially thought. This patient has many symtoms of basal cell nevus syndrome. - we has known multiple jaw cysts through panorama and facial computed tomography. He has hyperchromatism on basal cell through skin biopsy. In ophthalmologic consult, he has blindness on right. On his past medical history, amputation was done on his toes for polyductalism. - So we report with literature reviews

Routine 6-Week Outpatient Radiography and Visit in Patients with Conservatively Treated Multiple Rib Fractures: Valuable or a Waste of Resources?

  • Felix Peuker;Thomas Philip Bosch;Roderick Marijn Houwert;Ruben Joost Hoepelman;Menco Johannes Sophius Niemeyer;Mark van Baal;Fabrizio Minervini;Frank Johannes Paulus Beeres;Bryan Joost Marinus van de Wall
    • Journal of Chest Surgery
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    • v.57 no.5
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    • pp.430-439
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    • 2024
  • Background: This study investigated the incidence and clinical consequences of abnormal radiological and clinical findings during routinely performed 6-week outpatient visits in patients treated conservatively for multiple (3 or more) rib fractures. Methods: A retrospective analysis was conducted among patients with multiple rib fractures treated conservatively between 2018 and 2021 (Opvent database). The primary outcome was the incidence of abnormalities on chest X-ray (CXR) and their clinical consequences, which were categorized as requiring intervention or additional clinical/radiological examination. The secondary focus was the incidence of deviation from standard treatment in response to the findings (clinical or radiological) at the routine 6-week outpatient visit. Results: In total, 364 patients were included, of whom 246 had a 6-week visit with CXR. The median age was 57 years (interquartile range, 46-70 years) and the median Injury Severity Score was 17 (interquartile range, 13-22). Forty-six abnormalities (18.7%) were found on CXR. These abnormalities resulted in additional outpatient visits in 4 patients (1.5%) and in chest drain insertion in 2 (0.8%). Only 2 patients (0.8%) with an abnormality on CXR presented without symptoms. None of the 118 patients who had visits without CXR experienced problems. Conclusion: Routine 6-week outpatient visits for patients with conservatively treated multiple rib fractures infrequently revealed abnormalities requiring treatment modifications. It may be questioned whether the 6-week outpatient visit is even necessary. Instead, a more targeted approach could be adopted, providing follow-up to high-risk or high-demand patients only, or offering guidance on recognizing warning signs and providing aftercare through a smartphone application.

Beyond BI-RADS: Nonmass Abnormalities on Breast Ultrasound

  • Hiroko Tsunoda;Woo Kyung Moon
    • Korean Journal of Radiology
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    • v.25 no.2
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    • pp.134-145
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    • 2024
  • Abnormalities on breast ultrasound (US) images which do not meet the criteria for masses are referred to as nonmass lesions. These features and outcomes have been investigated in several studies conducted by Asian researchers. However, the term "nonmass" is not included in the American College of Radiology (ACR) Breast Imaging Reporting and Data System (BI-RADS) 5th edition for US. According to the Japan Association of Breast and Thyroid Sonology guidelines, breast lesions are divided into mass and nonmass. US findings of nonmass abnormalities are classified into five subtypes: abnormalities of the ducts, hypoechoic areas in the mammary glands, architectural distortion, multiple small cysts, and echogenic foci without a hypoechoic area. These findings can be benign or malignant; however, focal or segmental distributions and presence of calcifications suggest malignancy. Intraductal, invasive ductal, and lobular carcinomas can present as nonmass abnormalities. For the nonmass concept to be included in the next BI-RADS and be widely accepted in clinical practice, standardized terminologies, an interpretation algorithm, and outcome-based evidence are required for both screening and diagnostic US.

Multiple jaw cysts not associated with basal cell nevus syndrome (기저세포모반증후군을 동반하지 않은 다발성 악골낭 두 증례)

  • Yoon Suk-Ja;Kang Byung-Cheol
    • Imaging Science in Dentistry
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    • v.33 no.3
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    • pp.195-198
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    • 2003
  • We present two cases of multiple jaw cysts not associated with basal cell nevus syndrome. Case 1: a nine year-old boy visited CNU Hospital for orthodontic treatment and his radiographs showed cystic lesions surrounding the crowns of teeth #13 and #17 respectively, which were diagnosed as dentigerous cysts. Subsequently, two more cysts were found on his follow-up radiographs in 12 and 15 months. The two cysts were determined to be odontogenic keratocysts. The boy had no skeletal abnormalities and no skin lesions associated with basal cell nevus syndrome. Case 2: a fifty-eight year old man had three impacted third molars with pericoronal radiolucencies, which were diagnosed as dentigerous cysts. He had no additional abnormalities associated with basal cell nevus syndrome. Multiple jaw cysts can occur at any age, and periodic radiographic surveillance may be needed for any cases of impacted tooth.

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Multiple Spinal Intramedullary Cavernous Malformation with Multiple Intracranial Involvement

  • Cho, Jae-Ik;Cho, Young-Dae;Kim, Young-Don
    • Journal of Korean Neurosurgical Society
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    • v.42 no.1
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    • pp.64-66
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    • 2007
  • Intraspinal cavernous malformation (CM) accounts for 5% to 16% of all spinal vascular abnormalities. Multiple spinal cord CMs are very rare and only a few cases have been described. We report a patient presented with right chest paresthesia and seizure, and diagnosed as multiple spinal intramedullary CM and intracranial involvement.

Development of Diagnostic Expert System for Rotating Machinery Failure Diagnosis (볼베어링으로 지지된 회전축의 이상상태 진단을 위한 진단전문가 시스템의 개발)

  • 유송민;김영진;박상신
    • Journal of the Korean Society for Precision Engineering
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    • v.15 no.11
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    • pp.218-226
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    • 1998
  • In this study a neural network based expert system designed to diagnose operating status of a rotating spindle system supported by ball bearings was introduced. In order to facilitate practical failure situations, five exemplary abnormal status was fabricated. Out of several possible data source locations, seven most effective spots were chosen and proven to be the most successful in predicting single and multiple abnormalities. Increased signal strength was measured around where abnormality was embedded. Signal mea-surement locations producing high prediction rate were also classified. Even though multiple abnormalities were hard to be decoupled into their individual causes, proposed diagnostic system was somewhat effective in predicting such cases under certain combination of sensor locations. Among several abnormal operating conditions, highest prediction rate can be expected when signal is spoiled by the failure or damage in outer race. Proposed diagnostic system was again proven to be the most effective system in analyzing and ranking the importance of data sources.

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Early postictal electroencephalography and correlation with clinical findings in children with febrile seizures

  • Jeong, Kyung A;Han, Myung Hee;Lee, Eun Hye;Chung, Sajun
    • Clinical and Experimental Pediatrics
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    • v.56 no.12
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    • pp.534-539
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    • 2013
  • Purpose: Electroencephalography (EEG) is frequently ordered for patients with febrile seizures despite its unclear diagnostic value. We evaluated the prevalence of abnormal EEGs, the association between clinical findings and abnormal EEGs, and the predictive value of EEG for the recurrence of febrile seizures Methods: Data were collected on 230 children who were treated for febrile seizures at Kyung Hee University Medical Center from 2005 to 2009. EEGs were recorded after 1-2 days of hospitalization when children became afebrile. EEG patterns were categorized as normal, epileptiform, or nonspecific relative to abnormalities. The patients' medical records were reviewed, and telephone interviews with the families of the children were conducted to inquire about seizure recurrence. The relationships between clinical variables, including seizure recurrence, and EEG abnormalities were evaluated. Results: Of the 131 children included, 103 had simple and 28 had complex febrile seizures. EEG abnormalities were found in 41 children (31%). EEG abnormalities were more common in children with complex than simple febrile seizures (43% vs. 28%), but the difference was not statistically significant. Logistical regression analysis showed that having multiple seizures in a 24-hour period was significantly predictive of abnormal EEG (odds ratio, 2.98; 95% confidence interval, 1.0 to 88; P =0.048). The frequency of recurrence did not differ significantly in the normal (31%) and abnormal (23%) EEG groups. Conclusion: Multiple seizures within 24 hours were predictive of abnormal EEG in children with febrile seizures. Abnormal EEG was not predictive of febrile seizure recurrence.

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

  • Jang, Jin A;Sohn, Young Bae;Lee, Jang Hoon;Park, Moon Sung
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.48-54
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    • 2021
  • Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.