• Title/Summary/Keyword: Congenital absence

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Chest Wall and Breast Reconstruction in Poland's Syndrome (Poland 증후군 환자의 흉벽 및 유방 재건술)

  • Oh, Deuk Young;Lee, Paik Kwon;Seo, Byung Chul;Rhie, Jong Won;Ahn, Sang Tae
    • Archives of Plastic Surgery
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    • v.34 no.3
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    • pp.346-351
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    • 2007
  • Purpose: As a rare congenital anomaly, Poland's syndrome has been known to show hypoplasia in breast and nipple, absence of pectoralis major muscle, and aplasia or deformity of rib or costal cartilage which has been reported to be more common in male. However, most patients who are seeking operation are female patients having one-side deformity. In the field of plastic surgery, the major surgical indications could be asymmetric chest wall depression in man or breast hypoplasia in woman. There are many reconstruction options according to the degree of patient's deformity: a prosthetic implant, breast implant with or without tissue expander, latissimus dorsi musculocutaneous pedicled flap with or without implant and/or tissue expander, and free tissue transfer with or without tissue expander. Methods: The authors have treated 4 patients(2 male, 2 female) who had a diagnosis of Poland's syndrome. According to the degree of patient's deformity, all patients underwent correction of breast asymmetry and unilateral anterior thoracic hypoplasia with one-staged or two-staged reconstruction. Results: All patents were satisfied with the results and there occurred no specific complications. Conclusion: The authors propose the treatment plan for patient with Poland's syndrome, according to the degree of patient's deformity. In case of male patient with mild deformity, the prosthetic implant or latissimus dorsi musculocutaneous pedicled flap will simulate the missing pectoralis and improve the contour deformity. In case of female patient with moderate to severe breast asymmetry and upward displaced nipple areolar complex (NAC), NAC can be lowered with tissue expander, breast can be enlarged with autologous free flaps or latissimus dorsi musculocutaneous pedicled flap with implant.

Clinical Study on Intracytoplasmic Sperm Injection Using Epididymal and Testicular Sperm (부고환 및 고환 정자를 이용한 세포질내 정자주입술에 관한 임상 연구)

  • Lee, Young-Il;Jung, Byeong-Jun;Lee, Sang-Hoon;Kim, Young-Sun
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.3
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    • pp.447-456
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    • 1999
  • Objective: The purpose of this study was to evaluate outcome of intracytoplasmic sperm injection (ICSI) using epididymal and testicular sperm in patients with azoospermia. Methods: From March, 1993 to May, 1999, a retrospective clinical analysis was done of a total of 140 cycles in 112 patients who underwent ICSI. Subjects were divided into three groups: ejaculated-ICSI group included 42 cycles in 34 patients with ejaculated sperm who underwent ICSI due to severe oligospermia and past history of failed or poor fertilization in the previous in vitro fertilization and embryo tranfer (IVF-ET) cycles, microsurgical epididymal sperm aspiration and intracytoplasmic sperm injection (MESA-ICSI) group included 50 cycles in 42 patients with congenital absence of the vas deferens (CAVD) or unreconstructable obstructive azoospermia and testicular sperm extraction and intracytoplasmic sperm injection (TESE-ICSI) group included 48 cycles in 36 patients with no spermatozoa which can be retrieved from epididymis or non-obstructive azoospermia. Results: Normal two-pronuclear fertilization rates were similar in three groups: 64.4% for ejaculated-ICSI group, 59.4% for MESA-ICSI group and 60.4% for TESE-ICSI group. The pregnancy rates were 26.2%, 26.0% and 25.0% respectively. There were no significant differences in the fertilization, cleavage, and clinical pregnancy rates among ICSI cycles using ejaculated, epididymal and testicular sperm. Conclusion: Epididymal and testicular sperm obtained in azoospermic patients can fertilize oocyte successfully and may lead to be similar fertilization rates and clinical pregnancy rates to ejaculated sperm.

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USE OF MAGNETS IN THE TREATMENT OF ECTODERMAL DYSPLASIA (외배엽 이형성증 어린이에서 magnetic attachment를 이용한 보철치료)

  • Ju, Jin-Hyung;Lee, Kwang-Hee;Kim, Dae-Eop;Lee, Jong-Seon
    • Journal of the korean academy of Pediatric Dentistry
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    • v.28 no.4
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    • pp.626-632
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    • 2001
  • Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structures. Intraorally, common findings are anodontia or oligodontia, conical teeth, and, consequently, generalized spacing. This case presented the oral rehabilitation of a child with hypohidrotic ectodermal dysplasia. Oral rehabilitation is important from functional, esthetic, and psychologic perspectives. Due to the absence of teeth, the volume of alveolar bone and its growth are decreased, resulting in a loss of vertical dimension and protuberant lips. The treatment involved increasing the patient's vertical dimension of occlusion, fabricating a maxillary partial denture, and using magnets to help retain the mandibular partial denture. A 5-year 7-month old Korean boy was referred to the pediatric department for examination, evaluation and treatment of his disorder. we used magnets on '73 and '83 for enhanced retention of a mandibular overdenture. The magnet used in this case was the Magfit system(GC Co., Japan).

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A Study about Factors Influencing on the Postoperative Prognosis of the Right Ventricular Outflow Trac Obstruction (우심실유출로협착증의 수술예후에 영향을 미치는 인자에 관한 연구)

  • 최강주
    • Journal of Chest Surgery
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    • v.27 no.6
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    • pp.435-443
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    • 1994
  • Surgical procedures to relieve congenital right ventricular outflow tract[RVOT] obstruction of heart were performed on 125 patients from September 1985 to August 1992. There were 65 males and 60 females. Ages ranged from 7 months to 33 years with a mean age of 8 years. All the patients were divided into three main groups[I, II, III] depending on the presence or absence of cyanosis and combined anomalies. The patient were classified into two groups; A and B according to the outcome after surgical repair. Group A included the patients who had a good postoperative outcome with or without mild complications such as wound disruption, or hydrothorax. Group B included the patients who had a poor outcome including hospital death and significant postoperative complications such as heart failure, low output syndrome, respiratory failure, hepatic failure and others. And the results were summarized as follows. 1. There were no significant differences in age, body surface area and aortic dimension among the group I, II, and III, but there were significant differences among groups in pulmonary arterial dimension, ACT[aortic cross clamping time], TBT [total bypass time], preoperative and postoperative ratio of systolic pressure of right and left ventricles [pre PRV/RV and post PRV/LV], and the size of Hegar dilator which passed through the RVOT postoperatively [p<0.05]. 2. In the group A and B, there were significant differences in pulmonary arterial dimension [group A:1.6$\pm$0.5 cm, group B:1.9$\pm$0.6 cm], ACT [group A:102.3$\pm$ 46.0 minute, group B:76.1$\pm$46.1 minute], TBT [group A:133.9$\pm$56.6 minute, group B:94.9$\pm$51.9 minute], pre PRV/LV [group A:1.06$\pm$0.24, group B:0.8$\pm$0.32], post PRV/LV [group A:0.58$\pm$0.18, group B:0.43$\pm$0.16].It has been concluded that postoperative prognosis of RVOT obstruction was influenced by pulmonary arterial dimension, ACT, TBT, severity of RVOT obstruction [pre PRV/LV] and post PRV/LV.

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A Case of Pregnancy from Cryopreserved Embryos following ICSI with Frozen-Thawed Epididymal Sperms (동결보존된 부고환 정자로 ICSI 시술 후 수정된 수정란의 동결보전 및 배아이식에 의한 임신 1례)

  • Moon, S.Y.;Lee, H.S.;Kim, H.S.;Ryu, B.Y.;Pang, M.G.;Oh, S.K.;Suh, C.S.;Kim, S.H.;Choi, Y.M.;Kim, J.G.;Lee, J.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.2
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    • pp.273-277
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    • 1997
  • This case report describes the pregnancy following the transfer of cryopreserved embryos generated from intracytoplasmic sperm injection (ICSI) using frozen-thawed sperm obtained by microepididymal sperm aspiration (MESA) in patient with congenital absence of the vas deferens (CAVD).

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Imaging Findings of an Intraluminal Duodenal Diverticulum Associated with Adult Duodeno-Duodenal Intussusception and Recurrent Pancreatitis: A Case Report (성인 십이지장-십이지장 장중첩증 및 재발성 췌장염과 관련된 관강내 십이지장 게실의 영상 소견: 증례 보고)

  • Ga Young Yi;Jeong Kyong Lee;Huisong Lee;Sun Young Yi;SangHui Park
    • Journal of the Korean Society of Radiology
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    • v.83 no.3
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    • pp.680-686
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    • 2022
  • Intraluminal duodenal diverticulum (IDD) is a rare congenital abnormality, consisting of a saclike mucosal lesion in the duodenum. Cases of IDD can present with gastrointestinal bleeding, duodenal obstruction, or pancreatitis. Here, we report a rare case of a 25-year-old female presenting with IDD complicated by duodeno-duodenal intussusception and recurrent pancreatitis. The diagnosis was based on findings from radiologic examinations (CT and MRI), upper gastrointestinal series (barium swallow), and gastroduodenofiberscopy. Laparoscopic excision of the presumed duodenal duplication was performed. The subsequent histopathologic evaluation of the excised sac revealed normal mucosa on both sides, but the absence of a proper muscle layer confirmed the diagnosis of IDD. Radiologic detection of a saccular structure in the second portion of the duodenum can indicate IDD with duodeno-duodenal intussusception as the lead point.

Differences in the panoramic appearance of cleft alveolus patients with or without a cleft palate

  • Takeshi Fujii;Chiaki Kuwada;Yoshitaka Kise;Motoki Fukuda;Mizuho Mori;Masako Nishiyama;Michihito Nozawa;Munetaka Naitoh;Yoshiko Ariji;Eiichiro Ariji
    • Imaging Science in Dentistry
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    • v.54 no.1
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    • pp.25-31
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    • 2024
  • Purpose: The purpose of this study was to clarify the panoramic image differences of cleft alveolus patients with or without a cleft palate, with emphases on the visibility of the line formed by the junction between the nasal septum and nasal floor(the upper line) and the appearances of the maxillary lateral incisor. Materials and Methods: Panoramic radiographs of 238 patients with cleft alveolus were analyzed for the visibility of the upper line, including clear, obscure or invisible, and the appearances of the maxillary lateral incisor, regarding congenital absence, incomplete growth, delayed eruption and medial inclination. Differences in the distribution ratio of these visibility and appearances were verified between the patients with and without a cleft palate using the chi-square test. Results: There was a significant difference in the visibility distribution of the upper line between the patients with and without a cleft palate (p<0.05). In most of the patients with a cleft palate, the upper line was not observed. In the unilateral cleft alveolus patients, the medial inclination of the maxillary lateral incisor was more frequently observed in patients with a cleft palate than in patients without a cleft palate. Conclusion: Two differences were identified in panoramic appearances. The first was the disappearance (invisible appearance) of the upper line in patients with a cleft palate, and the second was a change in the medial inclination on the affected side maxillary lateral incisor in unilateral cleft alveolus patients with a cleft palate.

Clinical Course of Aplasia Cutis Congenita (선천성 피부 무형성증의 임상 경과)

  • Kim, Ji-Young;Lee, Yeon-Kyung;Ko, Sun-Young;Kim, Kyung-A;Shin, Son-Moon
    • Neonatal Medicine
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    • v.18 no.2
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    • pp.359-364
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    • 2011
  • Purpose: Aplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin, and it can be associated with other congenital anomalies. This study was done to evaluate clinical course and outcome of ACC in neonates. Methods: Based on the medical records, we retrospectively reviewed 8 neonates diagnosed with ACC at Cheil General Hospital and Women's Health Care Center, Kwandong university College of Medicine from January 2004 to December 2010. We classified ACC by Frieden's classification and analyzed the patient's demographic data, clinical course and outcome. Results: Among 8 patients with ACC, 5 patients were classified to group 1; scalp ACC without anomalies and 3 patients to group 7; ACC localized to extremities without blistering. Defect size was from 0.3 cm to 1.5 cm, limited in the superficial skin or subcutaneous tissue without associated anomalies. Defects were healed under conservative treatment with mild scar formation within four months. Conclusion: ACC could be diagnosed easily through physical examination in neonates. All cases showed good clinical outcome without surgical treatment. However because of small numbers and small sized defects of cases, further study including lesions of large size is needed.

MEDIAN CLEFT OF THE LOWER LIP AND MANDIBLE;A CASE REPORT (하순 및 하악골 정중열의 치험례)

  • Cha, Doo-Won;Kim, Hyun-Soo;Baek, Sang-Heum;Kim, Chin-Soo;Byeon, Ki-Jeong
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.23 no.3
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    • pp.263-269
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    • 2001
  • Median cleft of the lower lip and/or mandible is a rare congenital anomaly, first mentioned by Couronne in 1819. Monroe(1966), Fujino(1970), Ranta(1984) and Oostrom(1996) conducted comprehensive reviews and list cases in literature. Median cleft varies greatly, from a simple vermilion notch to a complete cleft of the lip involving the tongue, the chin, the mandible, the supporting structures of the median of the neck, and the manubrium sterni. The associated anomalies include ankyloglossia, cleft tongue, neck contraction, heart lesion, absence of hyoid bone, and so on. The etiology of median cleft is unknown. Various possibilities, such as failure of mesodermal penetration into the midline, failure of fusion of mandibular processes, external factors apart from the embryogenic pattern such as pressure, position in utero, circulatory failure caused placental adhesion, diseases in pregnancy, and so on, have been discussed. A 8-year-old girl was referred to the Dept. of Oral & Maxillofacial Surgery, Kyungpook National University Hospital and had been aware of the fact that at birth "she had something wrong with her mouth." Shortly after birth she had been examined by a plastic surgeon and at that time surgical procedure had been performed to release the tongue from the lower jaw and lip at local hospital. On admission, she had a slight notching of lower lip and two fibrous frenum ran from the lip along the ventral surface of the tongue, diastema between her mandibular central incisors, and slightly constricted bifid mandible associated independent movement of the two halves of mandible. The patient had autogenous iliac bone graft to reconstruct the mandibular midline defect. The postoperative result was uneventful. In future, the correction of the soft tissue deformities such as notching of the lower lip and partial ankyloglossia will be required for the esthetic and functional improvement.

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AXENFELD-RIEGER SYNDROME WITH DENTAL PROBLEM : A CASE REPORT (Axenfeld-Rieger Syndrome 환자의 증례보고)

  • Seong, Min-Kyoung;Shin, Teo-Jeon;Kim, Young-Jae;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Kim, Chong-Chul;Hyun, Hong-Keun
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.8 no.2
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    • pp.113-117
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    • 2012
  • Axenfeld-Rieger syndrome (ARS) is a rare disorder with variable morphology characterized by malformations of the anterior segment of the eye such as iris hypoplasia, iridocorneal adhesions, corectopia and polycoria. Craniofacial and dental anomalies are also regularly reported in connection with ARS. Dental features include hypodontia in primary and permanent dentition, microdontia, short roots and abnormally shaped teeth. The patient in this case is a 14-year-old girl who has visited Seoul National Dental Hospital in 2002 for the first time. A panorama was taken on the day of her first visit, and total absence of maxillary anterior dentition and mandibular premolars were observed. The patient was on a treatment schedule by the department of ophthalmology at Seoul National Hospital for a morphological dyplasia of the pupil and she was diagnosed with ARS. Periodic panoramic observations were performed followingly, and she was finally diagnosed of congenital missing of maxillary anteriors and mandibular second premolars. In 2009, composite resin build-ups of maxillary primary central incisors were performed, and she has been on her regular follow-ups until now.