• Title/Summary/Keyword: Congenital Abnormality

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A Case of Recurrent Urinary Tract Infection with Vesicoureteral Reflux (방광요관역류를 동반한 재발성 요로감염 환자 1례)

  • Lee, Jin-Sin;Lee, Byung-Cheol;Jang, Won-Man;Ahn, Young-Min;Ahn, Se-Young;Doo, Ho-Kyung;Choi, Ki-Lim
    • The Journal of Internal Korean Medicine
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    • v.21 no.4
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    • pp.683-686
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    • 2000
  • Vesicoureteral reflux(VUR) is a state that urine regurge from bladder to ureter and kidney because of congenital, structural, functional abnormality of ureterovesical junction and lower urinary tract than bladder. It may be the primary cause of recurrent urinary tract infection(UTI) in chindhood, If urine regurge with UTI, it can cause renal damage, leading to scar formation, hypertension, chronic renal failure, But upper complications can be prevented by early diagnosis and proper treatment of VUR and UTI, so clinician must focus on them in treatment of VUR. We had experienced a case of recurrent UTI with VUR regardless of consistent antibiotics therapy in 7 years old boy, Chief complain was urinary frequency, The symptom of urinary frequency was successfully treated by herb medicine(Gamijihwag-tang), So, we report this case with a brief review of related literatures.

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A Case of Multiple Abscesses Associated with Patent Urachus in a Thoroughbred Foal (망아지의 개방요막관과 관련된 다발성 농양 증례)

  • Kim, Jae-Hoon;Jung, Ji-Youl;Kang, Sang-Chul;Yang, Jae-Hyuk;Bae, Jong-Hee;Kim, Jae-Hoon
    • Journal of Veterinary Clinics
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    • v.25 no.2
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    • pp.102-105
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    • 2008
  • The most common abnormality of the umbilicus in the foal is the patent urachus. Patent urachus may be a congenital or acquired condition in foals in which the urachus fails to close spontaneously at or shortly after parturition. A 17-day-old male Thoroughbred foal was requested to the Veterinary Pathology Laboratory of Cheju National University. The foal showed clinical signs such as umbilical urination, anorexia, depression, lethargy, and abdominal pain for 10 days. Because of the umbilical urination, the surgery for patent urachus was performed, but he died next day. Grossly, many pale yellowish foci 10-20 mm in diameter were scattered on the throughout surface of lungs. Severe subcapsular hemorrhage was observed in left kidney. Large milky yellow mass 10X6-7 cm in size was found in the adjacent area of right kidney. Histopathologically, many abscesses with bacterial cocci were scattered in the blood vessels or adjacent pulmonary parenchyma of lungs. Severe numerous abscesses with intralesional bacterial cocci were mostly occupied in the abdominal mass from right kidney. Gram staining for tissue sections demonstrated numerous Gram positive cocci in pulmonary and abdominal abscesses. In bacterial culture, catalase-positive beta-hemolytic colonies were isolated and confirmed as Staphylococcus (S.) aureus by Vitek system. Based on the results, acquired patent urachus and then multiple abscesses may be originated from the umbilical cord infected with S. aureus in this foal.

Anomalous Systemic Arterial Supply to the Left Basal Segments without Sequestration from Descending Thoracic Aorta - A case report - (폐분획증이 없이 하행 흉부 대동맥에서 분지된 좌측 바닥 구역의 이상 기시 체혈관 - 1예 보고 -)

  • Kim, Hyuck;Chung, Won-Sang;Jang, Hyo-Jun;Kang, Jeong-Ho;Kim, Young-Hak;Kim, Ji-Hoon
    • Journal of Chest Surgery
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    • v.41 no.4
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    • pp.512-515
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    • 2008
  • An anomalous systemic arterial supply to the left basal segments without sequestration is a rare congenital abnormality within the spectrum of pulmonary sequestration. But this is rather different from the definition of pulmonary sequestration in that it has normal bronchial connections. We describe here our experience with surgical treatments for an anomalous systemic arterial supply to the left basal segments without sequestration, and this condition was confirmed preoperatively.

SCISSOR BITE CORRECTION IN PATIENTS WITH WILLAMS SYNDROME: A CASE REPORT (Williams Syndrome 환자에서의 scissor bite correction: 증례보고)

  • Ji, Eun-Hye;Choi, Hyung-Jun;Kim, Seong-Oh;Son, Heung-Kyu;Lee, Jae-Ho
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.7 no.1
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    • pp.21-24
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    • 2011
  • Williams syndrome(WS) is a congenital disorder caused by a deletion of the Elastin gene and other contiguous genes at chromosome 7. Patients with WS are at a high risk of dental caries, and they also have a higher frequency of dental malocclusion compared to normal children. Malocclusion occurs in 85% of individuals with WS, which results from combined causes, such as tongue thrust, hypotonia, and connective tissue abnormality. An 11 year-old girl with WS presented scissor bite on the lower right second premolar and the first molar, and she complained of difficulty in chewing. Active lingual arch was used instead of removable appliance, considering the patient's cooperation ability. Unilateral posterior scissor bite was corrected in 7 months. Although patients with WS are sociable and friendly, dental treatment can be a fearful experience for them. Efforts to build rapport with the patients with WS resulted in improved relationship between the doctor and patient, and desired outcome of dental treatment was achieved with patient's improved cooperation.

EDWARDS SYNDROME : REPORT OF A CASE (에드워드 증후군 환아의 증례보고)

  • Park, Ji-Eun;Kim, Seung-Oh;Kim, Jong-Soo
    • Journal of the korean academy of Pediatric Dentistry
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    • v.35 no.2
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    • pp.319-323
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    • 2008
  • Edward's syndrome is a genetic disorder of 18th chromosomal trisomy. Main clinical features of this syndrome include systemic conditions, such as mental retardation, growth retardation, dyspnea, congenital heart disease, and orthopedic disorders, such as flexion deformity and rocker-bottom feet. The characteristics of fetal abnormality are hydramnios, small placenta, common umbilical artery. Infants with Edward's syndrome have very low survival rate. Almost half of them die during fetal stage. Fifty percent of them survive 2 months, and 5 to 10 percent of them survive about 1 year. A 3-year and 7 month old girl visited our dental hospital for the treatment of dental caries. Considering her systemic disease, low body weight, medical history of cardiac surgery, and difficulty in airway management, dental procedure was performed under general anesthesia. We report this case with review of literatures.

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Diagnostic Evaluation of Serum FSH and LH in Primary Amenorrhea by Radioimmunoassay (방사성 면역측정상의 혈청 FSH와 LH에 관한 일차성 무월경증 환자의 진단적 고찰)

  • Hong, I.S.;Kim, G.E.;Yoo, H.S.;Lee, J.T.;Park, C.Y.;Ryu, K.J.
    • The Korean Journal of Nuclear Medicine
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    • v.14 no.1
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    • pp.37-44
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    • 1980
  • The usefulness of single, random measurements of serum FSH and LH in the diagnosis of primary amenorrhea by radioimmunoassay was investigated. The 16 patients were divided into 3 groups by the level of serum FSH and LH. The first group with increased level of serum FSH and LH is five patients, all of these are related to the acquired or congenital abnormality of the ovary. Further studies indicated include buccal smear, chromosome analysis, gynecography and laparosocopy. The second group with normal serum FSH and LH is nine patients, four patients of these are related to the developmental anomaly of the Mullerian duct and five patients are undo etermined origin. Further studies indicated include laparoscopy and gynecography. The third group with decreased serum FSH and normal or decreased serum LH is two patients, one of these is related to the pituitary function, isolated FSH deficiency, the other is undetermined origin. Further studies indicated include the pituitary function test, LH-RH stimulation test, skull radiography. Determination of serum FSH and LH levels does not permit a specific etiologic diagnosis of primary amenorrhea. However the serum levels of FSH and LH can be used to differentiate the principal area of the investigation and can be of assistance in choosing more specific testing procedures.

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A late onset solitary mediastinal cystic lymphangioma in a 66-year-old woman who underwent kidney transplantation

  • Lee, Jung Mo;Lee, Sang Hoon;Park, Youngmok;Kim, Chi Young;Goag, Eun Kyoung;Lee, Eun Hye;Park, Ji Eun;Lee, Chang Young;Kim, Se Kyu
    • Journal of Yeungnam Medical Science
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    • v.32 no.2
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    • pp.155-158
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    • 2015
  • Lymphangioma is a congenital abnormality of the lymphatic system detected primarily in early childhood. There are rare reports of mediastinal lymphangioma in older adults. We hereby report on a 66-year-old female patient who underwent kidney transplantation 20 years previously and who developed pathologically confirmed solitary mediastinal lymphangioma 1 year ago. Chest radiography showed a mediastinal nodule, which was not observed 2 year previously, therefore she was referred to the pulmonary division. She had no symptoms, and chest computed tomography demonstrated a 25-mm, well-defined, low-density nodule located at the anterior mediastinum. The size of the nodule had increased from 25 mm to 34 mm 1 year later, and it was completely resected via video-assisted thoracic surgery. The histological diagnosis was cystic lymphangioma. Therefore, we recommend that clinicians consider cystic lymphangioma as a possible diagnosis even in older patients with a mediastinal cystic mass that shows progressive enlargement.

Budd-Chiari syndrome with antiphospholipid syndrome and systemic lupus erythematosus in a patient with Klinefelter's syndrome

  • Lee, Mingee;Huh, Jin-Young;Lee, Ji-Hyang;Kang, Sun-myoung;Lee, Jae-Yong;Kwon, Oh-Chan;Kim, Eun Na;Kim, Jihun;Lee, Danbi
    • Journal of Yeungnam Medical Science
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    • v.34 no.2
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    • pp.260-264
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    • 2017
  • Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.

The Comparative Morphometric Study of the Posterior Cranial Fossa : What Is Effective Approaches to the Treatment of Chiari Malformation Type 1?

  • Hwang, Hyung Sik;Moon, Jae Gon;Kim, Chang Hyun;Oh, Sae-Moon;Song, Joon-Ho;Jeong, Je Hoon
    • Journal of Korean Neurosurgical Society
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    • v.54 no.5
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    • pp.405-410
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    • 2013
  • Objective : The objective of this study was to investigate changes in the posterior cranial fossa in patients with symptomatic Chiari malformation type I (CMI) compared to a control group. Methods : We retrospectively reviewed clinical and radiological data from 12 symptomatic patients with CMI and 24 healthy control subjects. The structures of the brain and skull base were investigated using magnetic resonance imaging. Results : The length of the clivus had significantly decreased in the CMI group than in the control group (p=0.000). The angle between the clivus and the McRae line (p<0.024), as the angle between the supraocciput and the McRae line (p<0.021), and the angle between the tentorium and a line connecting the internal occipital protuberance to the opisthion (p<0.009) were significantly larger in the CMI group than in the control group. The mean vertical length of the cerebellar hemisphere (p<0.003) and the mean length of the coronal and sagittal superoinferior aspects of the cerebellum (p<0.05) were longer in the CMI group than in the control group, while the mean length of the axial anteroposterior aspect of the cerebellum (p<0.001) was significantly shorter in the CMI group relative to control subjects. Conclusion : We elucidate the transformation of the posterior cranial fossa into the narrow funnel shape. The sufficient cephalocaudal extension of the craniectomy of the posterior cranial fossa has more decompression effect than other type extension of the craniectomy in CMI patients.

Neural Tube Defects with Abdominal Wall Defects in Sibling Dogs (복벽결손을 동반한 동복자견의 신경관결손)

  • Cho, Sung-Jin;Kim, Ok-Jin
    • Journal of Veterinary Clinics
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    • v.26 no.5
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    • pp.467-471
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    • 2009
  • This report describes Neural Tube Defects (NTDs) with Abdominal Wall Defects (AWDs) on the sibling of Yorkshire terriers. The NTDs and AWDs are rare serious congenital defects. The NTDs are neurulation abnormality that results from to failed transformation of the neurual tube by the incomplete closure of the embryonic neural plate. These dysraphic states range form mild to severe according to developmental malformation that include fusion defects of skull (crania bifida; CB) and fusion defects of vertebrae (spina bifida; SB). The AWDs are genetic defects that results from to failed formation of abdominal wall and cavity. These dysraphic states are omphalocele and gastroschisis. The 12-month dam was delivered by caesarian section and 4 littermate had obvious malformations. One male dead stillbirth fetus (L1) was revealed the extruded abdominal viscera, omphalocele. One female fetus (L2) was died within 1 hour after birth with defects of abdominal muscle upper umbilicus, gastroschisis. 3rd fetus (L3) was died within 36 hours after parturition and revealed a copious dermal and vertebral defects on the midline thorax, upper SB asperta. 4th fetus (L4) is still growing well now at 6 months but at the 2 week age, appears hairy nevus on the frontal cranium and dorsal thoracic portion. The radiograph of L1 and L2 are shown decrease bony density of calvarium and L3 was shown defect of spinose processes of the T9-T13. On our knowledge, this is first report of the SB and CB in Yorkshire terrier. And also sibling of NTDs with AWDs that has not previously been reported in the dog.