Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.17
no.3
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pp.103-108
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2017
Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.
Journal of the korean academy of Pediatric Dentistry
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v.31
no.1
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pp.11-18
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2004
The eruption of permanent teeth represents the movement in the alveolar bone before appearance in oral cavity, to the occlusal plane after appearance in oral cavity, and additive movement after reaching th the occlusal plane. Tooth eruption is mostly controlled by genetic signals. The eruption stage is divided to preeruptive alveolar stage, alveolar bone stage, mucosal stage according to the process of growth and development. If the disturbance is occured in any stage of eruption, tooth does not erupt. The cause of eruption disturbance are ectopic position of the tooth germ, obstruction of the eruption path and defects in the follicle or PDL. In the treatment of eruption disturbance, surgical procedures are commonly used. There are three kind of surgical procedure ; surgical exposure, surgical repositioning, surgical exposure and traction Surgical exposure is basic procedure. This involves removal of mucosa, bone, lesion that are surrounding the teeth, dental sac when necessary to maintain a patent channel between the crown and the normal eruptive path into the oral cavity. To ensure this patency, many techniques including cementation of a celluloid crown, packing with gutta-percha or zinc oxide-eugenol, or a surgical pack, are used. When surgical exposure is conducted, operators should not expose any part of cervical root cement and not injure periodontium or root of adjunct tooth. After surgical exposure, tooth should be surrounded by keratinized gingiva. There is direct relationship between the extent of development of pathophysiologic aberrations and the intensity of the manipulative injury inflicted on the tooth by surgical treatment, so operator should consider this thing. In these cases, surgical exposure is conducted on Maxillary 1st milars that have a eruption disturbance and improve the eruption disturbance effectively.
Statement of the problem: Under anatomical limitations on maxillary posterior region, a poor crown-to root ratio acting on dental implants can result in undesirable stress in surrounding bone, which in turn can cause bone defects and eventual failure of implants. Purpose: The purpose is to compare stress distribution due to different crown-root ratio and effect of splinting between natural teeth and implants in maxillary molar area under different loads. Material and methods: Analysis of stress arising supporting bone of the natural teeth and the implant was made with 3-dimensional finite element method. The model simulated naturel teeth was made with 2nd premolar and 1st molar in the maxillary molar region (Model T). The model simulated implants placed on same positions with two parallel implants of Straumann Dental Implant cemented abutment (Model I). Each model was designed in different crown-root ratio (0.7:1, 1:1, 1.25:1) and set cement type gold crown to make it non-splinted or splinted. After that, 300 N force was loaded to each model in five ways (Load 1: middle of occlusal table, Load 2: middle of buccal cusp, Load 3: middle of lingual cusp, Load 4: horizontal load to buccal cusp of anterior abutment only, Load 5: horizontal load to middle of buccal cusp of each abutment), and stress distribution was analyzed. Results and conclusion: On all occasions, stress was concentrated at the cervical region of the implant. Under load 1, 2 and 3, stress was not increased even when crown-root ratio increases, but under load 4 and 5, when crown-root ratio increases, stress also increased. There was difference in stress values between natural teeth and implants when crown-root ratio gradually increases; In case of natural teeth, splinting decreased stress under vertical and horizontal loads. In case of implants, splinting decreased stress under vertical loads 1,2 and 3, but increased maximal stress under loads 2 and 3. Under horizontal loads, splinting decreased stress, however the effect of splinting decreased under load 5 than load 4. Furthermore, the stress was increased, when crown-root ratio is 1.25:1. Clinical implications: This limited finite element study suggests that the stress on supporting bone may be increased under non-axial loads and poor crown-root ratio. Under poor crown-root ratio, excessive stress was generated at the cervical region of the implant, and decreased splinting effect for stress distribution, which can be related to clinical failure.
Kim, Kwan-Chang;Lee, Cheul;Choi, Chang-Hue;Lee, Chang-Ha;Oh, Sam-Sae;Park, Seong-Sik;Kim, Kyung-Hwan;Kim, Woong-Han;Kim, Yong-Jin
Journal of Chest Surgery
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v.41
no.2
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pp.170-176
/
2008
Background: Bioprosthetic devices for treating cardiovascular diseases and defects may provide alternatives to autologous and homograft tissue. We evaluated the mechanical and physical conditions of a porcine pericardial bioprosthesis treated with Glutaraldehyde (GA), Ethanol, or Sodium dodecylsulfate (SDS) before implantation. Material and Method: 1) Thirty square-shaped pieces of porcine pericardium were fixed in 0.625%, 1.5% or 3% GA solution. 2) The tensile strength and thickness of these and other bioprosthesis, including fresh porcine pericardium, fresh human pericardium, and commercially produced heterografts, were measured. 3) The tensile strength and thickness of the six treated groups (GA-Ethanol, Ethanol-GA, SDS only, SDS-GA, Ethanol-SDS-GA and SDS-Ethanol-GA) were measured. Result: 1) Porcine pericardium fixed in 0.625% GA the thinnest and had the lowest tensile strength, with thickness and tensile strength increasing with the concentration of GA solution. The relationship between tensile strength and thickness of porcine pericardium increased at thicknesses greater than 0.1mm (correlation-coefficient 0.514, 0<0.001). 2) There were no differences in tensile strength or thickness between commercially-produced heterografts. 3) Treatment of GA, ethanol, or SDS minimally influenced thickness and tensile strength of porcine pericardium, except for SDS alone. Conclusion: Porcine pericardial bioprosthesis greater than 0.1 mm thick provide better handling and advantageous tensile strength. GA fixation did not cause physical or mechanical damage during anticalcification or decellularization treatment, but combining SDS-ethanol pre-treatment and GA fixation provided the best tensile strength and thickness.
A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of membranes. Although it is possible that these three disorders arose independently, it is very likely that all three have the same etiologic cause, and we propose that a possible mechanism for this concurrence is related to maternal gestational diabetes. Maternal hyperglycemia mostly affects fetal structures deriving from the neural crest, including the palatine bone, and may have caused the cleft palate observed in this case. Gestational diabetes is also associated with increased frequency of large for gestational age infants and, by extension, with increased risk of birth injuries such as obstetric brachial plexus injury or congenital muscular torticollis associated with large for gestational age infants. Since the children of mothers with gestational diabetes are at increased risk for congenital defects such as cleft palate as well as being large for gestational age, precautions indicated for each respective disorder must be taken during prenatal testing and during birth. However, further studies of more cases are required to evaluate whether the concurrence of obstetric brachial plexus injury, congenital muscular torticollis and cleft palate in this case are complications specifically associated with gestational diabetes or just a simple coincidence.
Shim, Woo Sup;Lee, Jae Yeong;Song, Jin Yong;Kim, Soo Jin;Kim, Sung Hye;Jang, So Ick;Choi, Eun Yong
Clinical and Experimental Pediatrics
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v.53
no.3
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pp.380-391
/
2010
Purpose : Respiratory syncytial virus (RSV) is one of the main pathogens causing lower respiratory infections (LRI) in young children, usually of limited severity. However, in congenital heart disease (CHD) patients, one of the high-risk groups for RSV infection, RSV can cause serious illnesses and fatal results. To elucidate the effects of RSV infection in CHD patients, we observed RSV infection cases among CHD patients and non-CHD patients. Methods : On admission of 343 LRI patients over 3 years, 77 cases of RSV infection were detected by the RSV antigen rapid test of nasopharyngeal secretion. We compared RSV infection cases among groups of CHD and non-CHD patients. Results : During the winter season, RSV caused 20-0% of LRI admissions in children. In patients with completely repaired simple left to right (L-R) shunt diseases such as ventricular septal defect, atrial septal defect, and patent ductus arteriosus, RSV infections required short admission days similar to non-CHD patients. In patients with repaired CHD other than simple L-R shunt CHD, for whom some significant hemodynamic problems remained, RSV infection required long admission days with severe clinical course. In children with unrepaired CHD, RSV infection mostly occurred in early infant age, with long admission days. RSV infections within a month after cardiac surgery also required long admission days and severe clinical course. Conclusion : To avoid the tragedic outcome of severe RSV infection in the CHD patients, efforts to find the subgroups of CHD patients at high risk to RSV infection are needed, and effective preventive treatment should be applied.
Purpose: Myocardial SPECT is an effective test for detecting coronary artery disease in the general population. But the diagnostic accuracy between sexes is not defined. The purpose of this study is to compare the diagnostic accuracy between males and females. Materials and Methods: One hundred and seventy seven male and 98 female patients who underwent myocardial SPECT within 1 month of coronary angiography were studied. Myocardial SPECTS were considered abnormal if fixed or reversible perfusion defects were detected. Stenosis severity of ${\geq}$ 50% luminal diameter reduction of any artery defined coronary artery disease (CAD). Results: Overall sensitivity for detection of CAD was 98% in men and 97% in women (p=not significant). However, specificities, accuracies, and positive predictive values (PPV) in men and women were 49% vs 31% (p<0.05), 81% vs 57% (p<0.01), 78% vs 48% (p<0.01), respectively. Diagnostic accuracies for detection of right coronary artery disease were not different in both sexes, however, accuracies for detection of left anterior descending artery disease and left circumflex artery disease were significantly lower in female (p<0.05). Conclusion: A significant difference of diagnostic accuracy between sexes, especially in LAD and LCx disease, was noted. Artifacts from breast attenuation might be a cause for the lower diagnostic accuracy in female.
Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.
Background: Total anomalous pulmonary venous connection (TAPVC) is still one of the more challenging congenital heart defects in newborns and young infants. The purpose of the study is to evaluate the early and midterm results of the surgical corrections for patients in early infancy with isolated TAPVC. Material and Method: Hospital records of 15 consecutive patients in early infancy (January 1993 to August 1998) were retrospectively reviewed. There were 8 boys and 7 girls whose ages ranged from 4 days to 3.5 months (median age 22 days). Their body weight ranged from 1.75 kg to 4.9 kg (mean 3.54 kg). The abnormal anatomical connections were supracardiac in 11, cardiac in 3, and infracardiac in 1. In 6 patients (40%), the pulmonary venous drainage was obstructive. Total circulatory arrest was used in 13 patients. Anastomosis between the common pulmonary vein and the left atrium was performed with a continuous suture technique using a fine nonabsorbable polypropylene suture through a lateral approach behind the right atrium. Result: There was one hospital death (6.5%) caused by a sepsis 17 days after the operation in a neonate who had supracardiac drainage and was dependent on a ventilator preoperatively. There were 2 late deaths. One died sudde`nly of an unknown cause at home 2.5 years after the operation and the other died of a recurrent pulmonary hypertension 3 months after the reoperation due to pulmonary venous obstruction (PVO). Two patients required reoperations because of PVO 5 months and 10 months respectively after the initial operation. Of these patients, one patient is alive at the present time with persistent pulmonary hypertension. All survivors without postoperative PVO (78.6%) were in NYHA functional class I at mean follow-up of 25.8 months (0.5∼67 months). Conclusion: Surgical correction of TAPVC in early infancy can be performed at low risk. However, there were 2 postoperative PVOs (14.3%) which had bad results. The survivors without postoperative PVO had excellent functional status.
Journal of the Korean Academy of Esthetic Dentistry
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v.32
no.1
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pp.16-22
/
2023
Esthetic factors are very important in the success of maxillary anterior implant restoration. However, achieving esthetic results is difficult, especially in cases where periodontitis has resulted in severe alveolar bone loss. In the case of maxillary anterior teeth, the alveolar ridge resorption that begins immediately after tooth extraction interferes with the esthetic implant restoration. Therefore immediate implant placement can be performed to minimize the alveolar ridge resorption. However, in severe bone loss cases, immediate implant placement could result in esthetic failure, and this result might cause irreparable problems. We can also perform alveolar ridge preservation and then place implants later. On JCP published in 2019, there is the consensus of European academy of periodontology on the extraction socket management and the timing of implant placement. This consensus states that alveolar ridge preservation should be considered when there is severe labial bone loss in an esthetically important area such as maxillary anterior region. On performing the alveolar ridge preservation, we cannot obtain the primary wound closure, so secondary wound healing is induced with open membrane technique or soft tissue grafting should be performed for primary wound closure. However, the secondary wound healing can have a negative impact on bone regeneration, and soft tissue grafting such as FGG or CT graft can be burdensome for both patients and dentists. On the other hand, by using the granulation tissue in the extraction socket, primary closure can be achieved without soft tissue grafting. Also some studies have shown that granulation tissue in periodontal defects contains stem cells that may help in tissue regeneration. Based on this, implant restorations were performed on maxillary anterior teeth with severe alveolar bone loss by alveolar ridge preservation using granulation tissue. In spite of the severe bone defect of the extraction socket, relatively esthetic results could be obtained in implant restorations.
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