• Title/Summary/Keyword: origin defect

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The Effect of Thernal Annealing and Growth of $CdIn_2S_4$ Single Crystal Thin Film by Hot Wall Epitaxy (Hot Wall Epitaxy(HWE)법에 의해 성장된 $CdIn_2S_4$ 단결정 박막 성장의 광학적 특성)

  • Yun, Seok-Jin;Hong, Kwang-Joon
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 2006.11a
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    • pp.129-130
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    • 2006
  • A stoichiometric mixture of evaporating materials for $CdIn_2S_4$ single crystal thin films was prepared from horizontal furnace. To obtain the single crystal thin films, $CdIn_2S_4$ mixed crystal was deposited on thoroughly etched semi-insulating GaAs(100) substrate by hot wall epitaxy(HWE) system. The source and substrate temperatures were $630^{\circ}C$ and $420^{\circ}C$, respectively. After the as-grown $CdIn_2S_4$ single crystal thin films was annealed in Cd-, S-, and In-atmospheres, the origin of point defects of $CdIn_2S_4$ single crystal thin films has been investigated by the photoluminescence(PL) at 10 K. The native defects of $V_{cd}$, $V_s$, $Cd_{int}$, and $S_{int}$, obtained by PL measurements were classified as a donors or acceptors type. And we concluded that the heat-treatment m the S-atmosphere converted $CdIn_2S_4$ single crystal thin films to an optical p-type. Also. we confirmed that In in $CdIn_2S_4$/GaAs did not form the native defects because In in $CdIn_2S_4$ single crystal thin films existed in the form of stable bonds.

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Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization

  • Sills, E. Scott;Obregon-Tito, Alexandra J.;Gao, Harry;McWilliams, Thomas K.;Gordon, Anthony T.;Adams, Catharine A.;Slim, Rima
    • Clinical and Experimental Reproductive Medicine
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    • v.44 no.1
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    • pp.40-46
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    • 2017
  • Objective: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. Methods: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening. Findings in NLRP7 were recorded and embryo culture and biopsy data were tabulated as a function of parental origin for any identified ploidy error. Results: The patient was found to have a pathogenic variant in NLRP7 (c.2810+2T>G) in a homozygous state. Fifteen oocytes were retrieved and 10 embryos were available after fertilization via intracytoplasmic sperm injection. Developmental arrest was noted for all 10 embryos after 144 hours in culture, thus no transfer was possible. These non-viable embryos were evaluated by karyomapping and all were diploid biparental; two were euploid and eight had various aneuploidies all of maternal origin. Conclusion: This is the first report of early human embryo development from a patient with any NLRP7 mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.

A Case of Congenital Extra Hepatic Portocaval Shunt (Abernethy Malformation Type 2) with a very Large Liver Mass and an Atrial Septal Defect (거대 간 종괴와 심방 중격 결손을 동반한 Abernethy 기형 2형 1예)

  • Lee, Hae-Jeong;Lee, Jee-Hyun;Huh, June;Kang, I-Seok;Lee, Heung-Jae;Suh, Yeon-Lim;Yoo, So-Young;Choe, Yon-Ho
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.11 no.1
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    • pp.56-59
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    • 2008
  • Extrahepatic portosystemic shunts, known as Abernethy malformations, were first reported by John Abernethy in 1793. They are classified into two types: Type I refers to a congenital absence of the portal vein and Type II refers to a shunt involving a side-to-side anastomosis with reduced portal blood flow into the liver parenchyma. This malformation is so rare that less than 100 cases have been reported in the medical literature. We report the case of a 13-month-old boy who had a congenital extrahepatic portocaval shunt with a hypoplastic portal vein. This case was complicated with an atrial septal defect and a large hyperplastic nodule in the liver. The patient was diagnosed with a Type II Abernethy malformation. We planned on surgical occlusion of the extrahepatic portocaval shunt. However, six months later, the patient had a sudden onset of a fever of unknown origin and developed hepatic encephalopathy. Although he underwent a liver transplantation, he died of acute hepatic failure.

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Study on point defect for $ZnIn_2S_4$ epilayers grown by Hot Wall Epitaxy (Hot Wall Epitaxy (HWE)법에 의해 성장된 $ZnIn_2S_4$ 에피레이어의 점결함 연구)

  • Hong, Kwang-Joon
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 2008.11a
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    • pp.141-142
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    • 2008
  • Single crystal $ZnIn_2S_4$ layers were grown on thoroughly etched semi-insulating GaAs(100) substrate at $450^{\circ}C$ with hot wall epitaxy (HWE) system by evaporating $ZnIn_2S_4$ source at $610^{\circ}C$. The temperature dependence of the energy band gap of the $ZnIn_2S_4$ obtained from the absorption spectra was well described by the Varshni's relation, $E_g$(T) = 2.9514eV - ($7.24\times10^{-4}$ eV/K)$T^2$/(T + 489 K). After the as-grown $ZnIn_2S_4$ single crystal thin films was annealed in Zn-, S-, and In-atmospheres, the origin of point defects of $ZnIn_2S_4$ single crystal thin films has been investigated by the photoluminescence(PL) at 10 K. The native defects of $V_{Zn}$, $V_s$, $Zn_{int}$, and $S_{int}$, obtained by PL measurements were classified as a donors or acceptors type. And we concluded that the heat-treatment in the S-atmosphere converted $ZnIn_2S_4$ single crystal thin films to an optical p-type. Also, we confirmed that In in $ZnIn_2S_4$/GaAs did not form the native defects because In in $ZnIn_2S_4$ single crystal thin films existed in the form of stable bonds.

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Point defect for $AgGaSe_2$ epilayers grown by hot wall epitaxy (Hot Wall Epitaxy (HWE)법에 의해 성장된 $AgGaSe_2$ 에피레이어의 점결함 연구)

  • Hong, Myung-Seok;Hong, Kwang-Joon
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 2008.11a
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    • pp.98-99
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    • 2008
  • To obtain the single crystal thin films, $AgGaSe_2$ mixed crystal was deposited on thoroughly etched semi-insulating GaAs(100) substrate by the hot wall epitaxy (HWE) system. The source and substrate temperatures were $630^{\circ}C$ and $420^{\circ}C$, respectively. The temperature dependence of the energy band gap of the $AgGaSe_2$ obtained from the absorption spectra was well described by the Varshni's relation, $E_g$(T) 1.9501 eV - ($8.79\times10^{-4}$ eV/K)$T^2$/(T + 250 K). After the as-grown $AgGaSe_2$ single crystal thin films was annealed in Ag-, Se-, and Ga-atmospheres, the origin of point defects of $AgGaSe_2$ single crystal thin films has been investigated by the photoluminescence(PL) at 10K. The native defects of $V_{Ag}$, $V_{Se}$, $Ag_{int}$, and $Se_{int}$ obtained by PL measurements were classified as a donors or acceptors type. And we concluded that the heat-treatment in the Ag-atmosphere converted $AgGaSe_2$ single crystal thin films to an optical p-type. Also, we confirmed that Ga in $AgGaSe_2$/GaAs did not form the native defects because Ga in $AgGaSe_2$ single crystal thin films existed in the form of stable bonds.

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Dysphagia Caused by Giant Granuloma Arising from the Oropharyngeal Posterior Wall (연하곤란을 초래하는 구인두 후벽에서 발생한 거대육아종)

  • Jung, Eun Kyung;Shin, Bong-Jin;Kim, Jongmin;Lee, Joon Kyoo
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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    • v.32 no.1
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    • pp.39-42
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    • 2021
  • Granuloma is an uncommon benign disease that develops in the process of wound healing. Pharyngeal or laryngeal granuloma can be associated with gastric reflux, mechanical injury or trauma including intubation, voice abuse, or foreign body. 50-year-old female was transferred to our institute with a huge mass occupying the upper aerodigestive tract causing dysphagia. The patient has been suffering from a brain hemorrhage for several months and was kept in bed due to the quadriplegia with stuporous mental status, and was tracheotomized. On examination, the whole oropharynx and hypopharynx was covered by a smooth-surfaced soft big diffuse granular mass, which extended down to the upper trachea through the larynx. The huge granuloma was successfully removed with surgery and was found to have a pedunculating stalk on the oropharyngeal posterior wall with a small mucosal defect, suggestive of the origin of the mass. The defect was closed primarily after the cauterization. The patient is now followed up regularly without any recurrence of the disease.

Radiologic Analysis of Congenital Origin Intestinal Obstruction in Neonate and Childhood (선천성 장관폐쇄의 방사선학적 분석)

  • Hwang, Mi-Soo;Byun, Woo-Mok;Kim, Sun-Yong;Chang, Jae-Chun
    • Journal of Yeungnam Medical Science
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    • v.4 no.1
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    • pp.33-42
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    • 1987
  • Congenital origin intestinal obstruction are important disease due to required emergency operation. So accurate and rapid diagnosis is needed for decreased mortality and morbidity. Radiologist must detect to accurate obstruction site and also associated other congenital anomalies. And also embriological bases are very important role to the diagnosis of theses diseases. We were analysed radiologically and clinically 25 cases with congenital origin intestinal obstruction with review of literature. 1. Hypertrophic pyloric stenosis 6 cases, midgut malrotation 4 cases, congenital megacolon 8 case, imperforated anus 5 cases, ileal atresia 1 case and duodenal atresia 1 case. 2. Male and female radio were 16:9. Especially on hypertrophic pyloric stenosis, 5 cases were male infants. 3. All cases of hypertrophic pyloric stenosis represented string sign and also pyloric beak sign shoulder sign on UGI. 4. I case duodenal atresia showed double bubble sign on simple abdomen x-ray and ileal atresia showed mechanical small bowel obstruction sign with microcolon. 5. On midgut malrotation, cecum was located in right upper abdomen on 4 cases. And 2 cases were associated with Ladd's band. I case with volvulus and 1 case with mesenteric defect. 6. Involved site of all congenital megacolon were localized to rectosigmoid colon. 7. On 5 cases imperforated anus, 3 cases were low type and 2 case high type. Rectoperineal and rectourogenital fistula were demonstrated on 4 cases.

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Surgical Repair of Single Ventricle (Type III C solitus) (단심실 -III C Solitus 형의 수술치험-)

  • naf
    • Journal of Chest Surgery
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    • v.12 no.3
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    • pp.281-288
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    • 1979
  • For years, physicians and anatomists have been interested in the heart that has one functioning ventricle. Various terms have been suggested for this entity including single ventricle, common ventricle, double-inlet left ventricle, cor biatriatum triloculare, and primitive ventricle. In this report, the term "single ventricle" is utilized as suggested by Van Praagh, and is defined as that congenital cardiac anomaly in which a common or separate atrioventricular valves open into a ventricular chamber from which both great arterial trunks emerge. An outlet chamber, or infundibulum, may or may not be present and give rise to the origin of either of the great arteries. This definition excludes the entity of mitral and tricuspid atresia. An 11 year old cyanotic boy was admitted chief complaints of exertional dyspnea and frequent upper respiratory infection since 2 weeks after birth. He was diagnosed as inoperable cyanotic congenital heart disease, and remained without any corrective treatment up to his age of 11 year when he suffered from aggravation of symptoms and signs of congestive heart failure for 2 months before this admission. On 22nd of May 1979, he was admitted for total corrective operation under the impression of tricuspid atresia suggested by a pediatrician. Physical check revealed deep cyanosis with finger and toe clubbing, and grade V systolic ejection murmur with single second heart sound was audible at the left 3rd intercostal space. Development was moderate in height [135 cm] and weight[28Kg]. Routine lab findings were normal except increased hemoglobin [21.1gm%], hematocrit [64 %], and left axis deviation with left ventricular hypertrophy on EKG. Cardiac catheterization and angiography revealed 1-transposition of aorta, pulmonic valvular stenosis, double inlet of a single ventricle with d-loop, and normal atriovisceral relationship [Type III C solitus according to the classification of Van Praagh]. At operation, longitudinal incision at the outflow tract of right ventricle in between the right coronary artery and its branch [LAD from RCA] revealed high far anterior aortic valve which had fibrous continuity with mitral annulus, and pulmonic valve was stenotic up to 4 mm in diameter positioned posterolaterally to the aorta. Ventricular septum was totally defective, and one markedly hypertrophied moderator band originated from crista supraventricularis was connected down to the imaginary septum of the ventricular cavity as a pseudoseptum of the ventricle. Size of the defect was 3X3 cm2 in total. Patch closure of the defect with a Teflon felt of 3.5 x 4 cm2 was done with interrupted multiple sutures after cut off of the moderator band, which was resutured to the artificial septum after reconstruction of the ventricular septum. Pulmonic valvotomy was done from 4 mm to 11 mm in diameter thru another pulmonary arteriotomy incision, and right ventriculotomy wound was closed reconstructing the right ventricular outflow tract with pericardial autograft of 3 x 4 cm2. Atrial septal defect of 2 cm in diameter was closed with 3-0 Erdeck suture, and atrial wall was sutured also when rectal temperature reached from 24`C to 35.5`C. Complete A-V block was managed with temporary external pacemaker with a pacing rate of 110/min. thru myocardial wire, and arterial blood pressure of 80/50 mmHg was maintained with Isuprel or Dopamine dripping under the CVP of 25-cm saline. Consciousness was recovered one hour after the operation when his blood pressure reached 100 /70 mmHg, but vital signs were not stable, and bleeding from the pericardial drainage and complete anuria were persisted until his heart could not capture the pacemaker impulse, and patient died of low output syndrome 320 min after the operation.

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Surgical Repair for Ebstein's Anomaly (Ebstein 기형의 수술 -2례 보고-)

  • naf
    • Journal of Chest Surgery
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    • v.12 no.3
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    • pp.289-296
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    • 1979
  • For years, physicians and anatomists have been interested in the heart that has one functioning ventricle. Various terms have been suggested for this entity including single ventricle, common ventricle, double-inlet left ventricle, cor biatriatum triloculare, and primitive ventricle. In this report, the term "single ventricle" is utilized as suggested by Van Praagh, and is defined as that congenital cardiac anomaly in which a common or separate atrioventricular valves open into a ventricular chamber from which both great arterial trunks emerge. An outlet chamber, or infundibulum, may or may not be present and give rise to the origin of either of the great arteries. This definition excludes the entity of mitral and tricuspid atresia. An 11 year old cyanotic boy was admitted chief complaints of exertional dyspnea and frequent upper respiratory infection since 2 weeks after birth. He was diagnosed as inoperable cyanotic congenital heart disease, and remained without any corrective treatment up to his age of 11 year when he suffered from aggravation of symptoms and signs of congestive heart failure for 2 months before this admission. On 22nd of May 1979, he was admitted for total corrective operation under the impression of tricuspid atresia suggested by a pediatrician. Physical check revealed deep cyanosis with finger and toe clubbing, and grade V systolic ejection murmur with single second heart sound was audible at the left 3rd intercostal space. Development was moderate in height [135 cm] and weight[28Kg]. Routine lab findings were normal except increased hemoglobin [21.1gm%], hematocrit [64 %], and left axis deviation with left ventricular hypertrophy on EKG. Cardiac catheterization and angiography revealed 1-transposition of aorta, pulmonic valvular stenosis, double inlet of a single ventricle with d-loop, and normal atriovisceral relationship [Type III C solitus according to the classification of Van Praagh]. At operation, longitudinal incision at the outflow tract of right ventricle in between the right coronary artery and its branch [LAD from RCA] revealed high far anterior aortic valve which had fibrous continuity with mitral annulus, and pulmonic valve was stenotic up to 4 mm in diameter positioned posterolaterally to the aorta. Ventricular septum was totally defective, and one markedly hypertrophied moderator band originated from crista supraventricularis was connected down to the imaginary septum of the ventricular cavity as a pseudoseptum of the ventricle. Size of the defect was 3X3 cm2 in total. Patch closure of the defect with a Teflon felt of 3.5 x 4 cm2 was done with interrupted multiple sutures after cut off of the moderator band, which was resutured to the artificial septum after reconstruction of the ventricular septum. Pulmonic valvotomy was done from 4 mm to 11 mm in diameter thru another pulmonary arteriotomy incision, and right ventriculotomy wound was closed reconstructing the right ventricular outflow tract with pericardial autograft of 3 x 4 cm2. Atrial septal defect of 2 cm in diameter was closed with 3-0 Erdeck suture, and atrial wall was sutured also when rectal temperature reached from 24`C to 35.5`C. Complete A-V block was managed with temporary external pacemaker with a pacing rate of 110/min. thru myocardial wire, and arterial blood pressure of 80/50 mmHg was maintained with Isuprel or Dopamine dripping under the CVP of 25-cm saline. Consciousness was recovered one hour after the operation when his blood pressure reached 100 /70 mmHg, but vital signs were not stable, and bleeding from the pericardial drainage and complete anuria were persisted until his heart could not capture the pacemaker impulse, and patient died of low output syndrome 320 min after the operation.

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Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) (메틸화 특이 PCR로 진단된 거설증을 동반한 일과성 신생아 당뇨병)

  • Jin, Hye Young;Choi, Jin-Ho;Kim, Gu-Hwan;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.53 no.3
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    • pp.432-436
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    • 2010
  • Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200-00 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.