• Neonatal Medicine
• /
• 제28권1호
• /
• pp.48-52
• /
• 2021

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

• 대한두개안면성형외과학회지
• /
• 제24권2호
• /
• pp.41-51
• /
• 2023

Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slow-growing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues. This condition has a broad clinical spectrum, ranging from insignificant solitary lesions to severe disease. The craniofacial area is the most common site of fibrous dysplasia, and nine out of 10 patients with fibrous dysplasia affecting the craniofacial bones present before the age of 5. Surgery is the mainstay of treatment, but the technique varies according to the location and severity of the lesion and associated symptoms. The timing and indications of surgery should be carefully chosen with multidisciplinary consultations and a patient-specific approach.

• 대한의생명과학회지
• /
• 제18권3호
• /
• pp.244-253
• /
• 2012

Bone mineral density (BMD) is used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. Osteoporosis, characterized mainly by decreased BMD, is a highly heritable complex disorder and a major public health concern to hundreds of millions of elderly persons worldwide. However, the specific genetic variants determining risk for low bone density are still largely unknown. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in ESR1 gene with low bone density. By examining genotype data of a total of 1813 women in the Korean Association REsource (KARE) study, we discovered the ESR1 gene polymorphisms are associated with decreased BMD and osteoporosis. The results on the BD-RT (bone density estimated by T-score at distal radius), three SNPs (rs2248586, rs9371557, and rs1569788) within the ESR1 gene were significantly associated with bone density. The results on the BD-TT (bone density estimated by T-score at midshaft tibia), five SNPs (rs9371552, rs2248586, rs712221, rs7772475, and rs3798577) were significantly associated with bone density. The SNP rs2248586 within the ESR1 gene had commonly significance in both BD-RT (${\beta}$=-0.151, dominant P=0.049) and BD-TT (${\beta}$=-0.156, dominant P=0.039). In the SNP rs2248586, their ${\beta}$-values in BD-RT and/or BD-TT showed consistent trends with the odds ratios (ORs) of osteoporosis. In summary, we found statistically significant SNPs in ESR1 gene that are associated with both decreased BMD and osteoporosis traits. Therefore, our findings suggest ESR1 gene could be related to pathogenesis of osteoporosis.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
• /
• 제38권3호
• /
• pp.139-144
• /
• 2012

This study was performed in order to evaluate the occurrence of temporomandibular joint disorder after surgical correction of skeletal class II malocclusion. Materials and Methods: This study included 21 patients who underwent orthognathic surgery for the correction of dentofacial deformities by a single surgeon at Mokdong Hospital, Ewha Womans University from 2000 to 2010. They underwent bilateral sagittal split ramus osteotomy for the treatment of undesirable mandibular advancement. The temporomandibular disorder (TMD) symptoms prior to surgery were recorded and the radiographic evaluation (panorama, bone scan, and magnetic resonance imaging [MRI]) of the post-surgery temporomandibular joint (TMJ) were assessed in order to evaluate condylar resorption, remodeling and disc displacement. The minimum follow-up period, including orthodontic treatment, was 12 months. Orthognathic procedures included 1-jaw surgery (n=8 patients) and 2-jaw surgery (n=13 patients). The monocortical plate was used for bilateral sagittal split ramus osteotomy fixation. Results: Among class II malocclusion patients with TMD symptom, clicking improved in 29.1%, and maximum mouth opening increased from $34.5{\pm}2.1$ mm to $37.2{\pm}3.5$ mm. The differences were not statistically significant, however. Radiographic changes in bone scan improved slightly based on the report by radiologist but not in TMJ dynamic MRI. Conclusion: No particular improvements were found in patients with joint sound only. Patients with limitation of mouth opening showed an increase in the degree of opening, but the difference was not statistically significant (P>0.05).

• Journal of Oral Medicine and Pain
• /
• 제41권4호
• /
• pp.169-179
• /
• 2016

Purpose: This study is designed to analyse etiology and bone pattern at the first visit using cone-beam computed tomography (CBCT) and to evaluate the treatment outcome of conservative treatment in temporomandibular disorder (TMD) patients with rheumatoid arthritis (RA). Methods: One hundred condyles in 50 subjects with RA were chosen among the patients who presented to the Department of Oral Medicine of Pusan National University Dental Hospital, diagnosed as TMD. Condylar bone changes were classified by normal, erosive bony change, proliferative bony change and combined group (erosive bony change+proliferative bony change). They were treated conservatively with physical therapy, medication, behavioral therapy and/or occlusal stabilizing splint therapy. After 3 months on average, patients were re-evaluated with regards to subjective symptoms and the clinical findings were investigated. Results: TMD patients with RA have behavioral contributing factors such as parafunctional habit. The results that analyse bone pattern at the first visit using CBCT proliferative bony changes group (32.6%) were more common than erosive bony changes group (15.2%). In comparison between unilateral and bilateral bony change in temporomandibular joint, the ratio showed no significant differences. After 3 months of conservative treatments, pain, noise, limitation of motion (LOM) were markedly improved regardless of occlusal splint therapy. However only LOM was significantly improved through occlusal splint therapy during 3 months. Conclusions: TMD patients with RA had similar behavioral contributing factors and characteristics of CBCT images shown in general TMD patients and also similar response to conservative treatment so it is difficult to differentiate. Therefore when TMD patients show symptoms corresponding to clinical diagnostic criteria of RA at the first visit, serological testing should be conducted and through this, early diagnosis and treatment of RA should be initiated.

• Nutrition Research and Practice
• /
• 제10권1호
• /
• pp.19-25
• /
• 2016

BACKGROUND/OBJECTIVES: Cadmium is a toxic metal that is an occupational and environmental concern especially because of its human carcinogenicity; it induces serious adverse effects in various organs and tissues. Even low levels of exposure to cadmium could be harmful owing to its extremely long half-life in the body. Cadmium intoxication may be prevented by the consumption of dietary components that potentially reduce its accumulation in the body. Dietary chitosan is a polysaccharide derived from animal sources; it has been known for its ability to bind to divalent cations including cadmium, in addition to other beneficial effects including hypocholesterolemic and anticancer effects. Therefore, we aimed to investigate the role of dietary chitosan in reducing cadmium accumulation using an in vivo system. MATERIALS/METHODS: Cadmium was administered orally at 2 mg (three times per week) to three groups of Sprague-Dawley rats: control, low-dose, and high-dose (0, 3, and 5%, respectively) chitosan diet groups for eight weeks. Cadmium accumulation, as well as tissue functional and histological changes, was determined. RESULTS: Compared to the control group, rats fed the chitosan diet showed significantly lower levels of cadmium in blood and tissues including the kidneys, liver, and femur. Biochemical analysis of liver function including the determination of aspartate aminotransferase and total bilirubin levels showed that dietary chitosan reduced hepatic tissue damage caused by cadmium intoxication and prevented the associated bone disorder. CONCLUSIONS: These results suggest that dietary chitosan has the potential to reduce cadmium accumulation in the body as well as protect liver function and bone health against cadmium intoxication.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
• /
• 제37권6호
• /
• pp.439-447
• /
• 2011

Introduction: In today's society, the rapid and appropriate care of the dental emergency patients is much more important. So, a retrospective study on the characteristics of emergency dental injuries and diseases will be very meaningful. Materials and Methods: This retrospective clinical study was carried by reviewing the radiographic films and emergency chart of 11,493 patients who had visited the emergency room of Hallym Sacred heart Hospital and were treated in the Department of Oral and Maxillofacial Surgery from January 2006 to December 2010. Results: The male to female ratio was 1.9:1. The highest monthly incidence was observed in May (10.4%) and June (8.9%) and the peak age distribution was the first decade (56.0%), followed by the second decade (16.0%). Trauma was the most common cause in dental emergency patients, followed in order by toothache, odontogenic infection, temporomandibular joint (TMJ) disorder and oral hemorrhage. Soft tissue injury was most prevalent in the trauma group, followed by tooth injury and facial bone fractures. In the tooth injury group, tooth fracture (56.7%) showed the highest incidence followed in order by tooth subluxation (18.2%), tooth concussion (16.9%), tooth avulsion (11.5%) and alveolar bone fractures (3.7%). In the facial bone fracture group, mandibular fractures (81.8%) showed the highest incidence followed in order by maxilla fractures (15.7%), nasal bone fractures (9.0%), zygomaticomaxillary complex fractures (5.4%), orbital bone fractures (2.5%). In mandibular bone fractures, the most common location was the symphysis (70.1%), followed in order by the mandibular angle (33.0%), mandibular condyle (22.8%) and mandibular body (13.6%). In the infection group, a submandibular space abscess (46.2%) was most common followed in order by a buccal space abscess (17.4%), canine space abscess (16.9%) and submental space abscess (12.3%). TMJ dislocation (89.3%) showed the highest incidence in the TMJ disorder group, followed by TMJ derangement (10.7%). In the other group, a range of specific symptoms due to post operation complications, trigeminal neuralgia, chemical burns and foreign body aspiration were reported. Conclusion: For the rapid and appropriate care of the dental emergency patients, well-organized system should be presented in oral and maxillofacial surgery. And it is possible under analysis of pattern and the variation of the dental emergency patients.

• Asian-Australasian Journal of Animal Sciences
• /
• 제32권6호
• /
• pp.896-903
• /
• 2019

Objective: Qianbei-Pockmarked goats are affected by a disorder locally referred to as 'Ruanguzheng Disorder', which is characterized by emaciation, lameness, muscular relaxation, stiffness of the extremities, and abnormal curvatures of the long bones. Our objective was to determine the relationship between the disorder and phosphorus deficiency. Methods: Tissue samples were collected from affected and healthy animals, while soil and herbage samples were collected from affected and healthy pastures. Biochemical parameters were determined using an automatic biochemical analyzer (OLYMPUS AU 640, Olympus Optical Co., Tokyo, Japan). Mineral contents in soil, forage, and tissue were determined using a Perkin-Elmer AAS5000 atomic absorption spectrophotometer (Perkin-Elmer, Norwalk, CT, USA). Results: The results showed that phosphorus contents in herbages from affected pastures were markedly lower than those from healthy areas (p<0.01), and the ratio of calcium to phosphorus in the affected herbages was 12.93:1. The phosphorus contents of wool, blood, tooth, and bone from affected animals were also markedly lower than those from healthy animals (p<0.01). Serum phosphorus values in affected animals were much lower than those in healthy animals, while serum alkaline phosphatase values from affected animals were markedly higher than those from healthy animals (p<0.01). Inorganic phosphorus values from affected animals were approximately half of that in the control group. Supplementation of disodium hydrogen phosphate prevented and cured the disorder. Conclusion: This study demonstrates that Ruanguzheng disorder in Qianbei-Pockmarked goats is primarily caused by phosphorus deficiencies in herbage due to fenced pastures and natural habitat fragmentation.

• Journal of Korean Dental Science
• /
• 제8권1호
• /
• pp.36-40
• /
• 2015

Fibrous dysplasia is a bone disorder characterized by progressive replacement of normal bone by fibrous bone tissue. Common involving sites of fibrous dysplasia are the skeletal system including long bones, ribs, craniofacial bones and the pelvis. If maxilla were affected by fibrous dysplasia, antrum is almost always involved. And fibrous dyplasia in maxillary sinus were followed the shape of bone. In our case, the lesion involves antrum but, its shape was different from typical fibrous dysplasia pattern of maxillary sinus. Therefore we report a case of monostotic pediculated fibrous dysplasia in the maxillary sinus with a review of literature.

• Asian Pacific Journal of Cancer Prevention
• /
• 제16권17호
• /
• pp.7415-7423
• /
• 2015

Chronic myeloid leukemia (CML) is a stem cell disorder characterized by unrestricted proliferation of the myeloid series that occurs due to the BCR-ABL fusion oncogene as a result of reciprocal translocation t(9;22) (q34;q11). This discovery has made this particular domain a target for future efforts to cure CML. Imatinib revolutionized the treatment options for CML and gave encouraging results both in case of safety as well as tolerability profile as compared to agents such as hydroxyurea or busulfan given before Imatinib. However, about 2-4% of patients show resistance and mutations have been found to be one of the reasons for its development. European Leukemianet gives recommendations for BCR-ABL mutational analysis along with other tyrosine kinase inhibitors (TKIs) that should be administered according to the mutations harbored in a patient. The following overview gives recommendations for monitoring patients on the basis of their mutational status.