• 제목/요약/키워드: Skeletal Anomalies

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구강내 이상소견과 언어 장애를 보이는 Kabuki 증후군환자의 증례보고 (KABUKI SYNDROME WITH PHONETIC & DENTAL PROBLEM: A CASE REPORT)

  • 이종석;고승오;임대호;백진아;신효근
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제33권6호
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    • pp.681-683
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    • 2007
  • Kabuki(Niikawa-Kuroki) syndrome was first reported by Niikawa et al(1981). The faces of the patients are similar to the make-up of traditional Japanese Kabuki actors: long palpebral fissures, an ectropium of the lateral third of the eyelids, and arching eyebrows with sparse lateral halves. Craniofacial findings include a depressed nasal tip, short nasal septum, large and prominent ears, and micrognathia. Other main features area mild to moderate mental deficiency, short stature, skeletal and dermatoglyphic abnormalities, including prominent finger tip pads. Oral anomalies are common in KS(over 60%) and include abnormal dentition, widely spaced teeth, cleft palate or lip, high vault of palate, hypodontia, conical incisors, screw driver-shaped incisors and ectopic upper 6-year molars. The increased occurrence of cleft lip and palate or the development of a high vault of palate has been described by a number of authors. This condition is believed to be common in Japan, but has been reported from other parts of the world. The objective of this presentation is to report a case of this syndrome in six-year-old girl, with characteristic findings.

오목가슴을 동반한 작은유방증 환자의 치험례 (Treatment of Micromastia with Pectus Excavatum: A Case Report)

  • 김상화;최윤석;임진수;한기택
    • Archives of Plastic Surgery
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    • 제35권6호
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    • pp.739-742
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    • 2008
  • Purpose: Breast augmentation is one of the common procedures in plastic surgery today. The shape, size and insertion plane of the implant is decided preoperatively by physical examination of the breast. Pectus excavatum is one of the most common anomalies of chest wall, characterized by a depression of the anterior chest wall. For patients with a mild type of pectus excavatum, the main purpose of the treatment is aesthetic rather than functional improvement. Two most surgical treatment options for skeletal deformity are the Ravitch technique and minimally invasive Nuss repair. Other options for soft tissue repair are implant insertion and autologous soft tissue augmentation. We performed a surgical operation with Nuss procedures and breast augmentation for a patient with mild pectus excavatum and hypoplastic breast. Methods: A 32 year-old female was presented with hypoplastic breast. Preoperative chest CT was performed, showing pectus excavatum. After Nuss procedure, we inserted saline implant(275 cc textured round breast implant, moderate profile) submuscularly to restore adequately projected breast. Results: Patient's postoperative course was uneventful without any complication. After 6 months of follow-up period, the patient had an excellent result, with high patient satisfaction and no complications. Conclusion: For patients with a mild type of pectus excavatum, who do not have cardiopulmonary symptoms and requires for aesthetic improvement, this simple approach with Nuss procedure and breast augmentation achieves excellent aesthetic correction with low complication rate and high patient satisfaction.

Reproductive Toxicity Evaluation of Pestban Insecticide Exposure in Male and Female Rats

  • Morgan, Ashraf M.;El-Aty, A.M. Abd
    • Toxicological Research
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    • 제24권2호
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    • pp.137-150
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    • 2008
  • Sexually mature male and female rats were orally intubated with the organophosphorus insecticide, Pestban at a daily dosage of 7.45 or 3.72 mg/kg bwt, equivalent to 1/20 and 1/40 $LD_{50}$, respectively. Male rats were exposed for 70 days, while the female rats were exposed for 14 days, premating, during mating and throughout the whole length of gestation and lactation periods till weaning. The results showed depressed acetylcholinesterase(AChE) activity in the brain of parents, fetuses and their placentae in a dose-dependent manner. The fertility was significantly reduced with increasing the dose in both treated groups, with more pronounced suppressive effects in the male treated group. The number of implantation sites and viable fetuses were significantly reduced in pregnant females of both treated groups. However, the number of resorptions, dead fetuses, and pre-and postimplantation losses were significantly increased. The incidence of resorptions was more pronounced in treated female compared to male group and was dose dependant. The behavioral responses as well as fetal survival and viability indices were altered in both treated groups during the lactation period. The incidence of these effects was more pronounced in the treated female group and occurred in a dose-related manner. The recorded morphological, visceral, and skeletal anomalies were significantly increased with increasing the dose in fetuses of both treated groups, with more pronounced effects on fetuses of treated females. In conclusion, the exposure of adult male and female rats to Pestban would cause adverse effects on fertility and reproduction.

Coronal approach 시행 후 발생한 측두부 함몰의 재건 (RECONSTRUCTION OF ANTERIOR TEMPORAL DEPRESSION AFTER THE CORONAL APPROACH)

  • 김일규;류승현;김재우;김동수;최진호
    • Maxillofacial Plastic and Reconstructive Surgery
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    • 제27권2호
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    • pp.183-187
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    • 2005
  • 관상접근법 후 발생한 측두부 함몰의 기전은 아직 명확하지는 않으나 중측두동맥의 손상에 의한 측두지방대의 소실과 변위, 측두근의 부피감소, 봉합시의 잘못된 위치에 의해 발생된다. 이에 저자등은 관상접근법 후 발생한 측두부 함몰을 빠른 혈관화와 골조직의 성장, 낮은 합병증을 보이는 $Medpor^{(R)}$를 이용하여 심미적인 개선을 얻을 수 있었고 이후 현재까지 양호한 경과를 보이기에 문헌고찰과 함께 보고하는 바 이다.

SECKEL 증후군 환자의 증례보고 (SECKEL SYNDROME : CASE REPORTS)

  • 김추성;김재곤;백병주;양연미;정진우
    • 대한소아치과학회지
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    • 제37권1호
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    • pp.124-129
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    • 2010
  • Seckel 증후군은 상염색체 열성 유전질환으로 태내에서의 성장지연에 따른 출생 후의 소인증, 심한 소두증을 나타내며, 큰 눈과 돌출된 코, 후퇴된 하악을 동반한 새 모양의 안모가 특징적이다. 다른 임상증상으로는 관절의 결함, 내반족, 드문드문 난모발, 비뇨생식기의 이형성, 정신지체, 혈액학적 이상 등이 나타날 수 있다. Seckel 증후군의 구강 내 소견으로는 부정교합, 법랑질 저형성증, 일부 치아의 선천적 결손, 우상치 등이 나타날 수 있다. 본 증례는 Seckel 증후군을 보이는 두 증례에서 발육부전, 새 모양의 안모, 비뇨기과적 기형, 치아의 저형성과 부정교합 등 다양한 전신증상과 구강 내 증상들을 보였기에 이를 보고하는 바이다.

Fertility and General Reproductive Ability Test of Ginkgo Biloba Extract (EGb 761) in Rats

  • Lee,Yong-Soon;Nam, Jeong-Seok;Yang, Jae-Man;Che, Jeong-Hwan;Kang, Byeong-Chul;Lee, Hak-Mo;Park, Jae-Hak;Kim, Dai-Yong;Kang, Sung-An
    • Toxicological Research
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    • 제12권1호
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    • pp.129-136
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    • 1996
  • A fertility and general reproductive a. bility study was performed in Sparque-Dawley rats intravenously injected with Ginkgo biloba extract (EGb 761), a potential pharmaceutical excipient, at dose levels of 7.5, 15, and 30 mg/kg/day. Male rats were treated with Ginkgo biloba extract (EGb 761)from 14 days before mating until 21 days after delivery. Female rats received extract for 2 months prior to mating. No abnormal signs were noted in mating or fertility of the rats treated with Ginkgo biloba extract (EGb 761). No significant external, visceral, and skeletal anomalies or mental and physical development attributable to treatment was noted in any fetuses examined. The fertility of F1 generation was not affected by the treatment also. It was concluded that Ginkgo biloba extract (EGb 761) has no harmful effect on mating, fertilization, implantation, embryonic development and normal physical development.

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항구토제(抗嘔吐劑)가 흰쥐태아(胎兒)의 발육(發育)에 미치는 영향(影響) (Effect of an Antiemetic Drug on the development of Rat Fetuses)

  • 김성훈;허린수;도재철;이영호;박준형
    • Current Research on Agriculture and Life Sciences
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    • 제4권
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    • pp.124-126
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    • 1986
  • 임신시 자연 발생의 임신 구토와 철분제제 복용으로 인하여 구토 현상을 경감시키고자 항구토제를 복용하는 경우가 있다. 본 연구에서는 임신시 항구토제가 태아의 기형 발생에 영향이 있는가를 조사하기 위하여 시판 항구토제를 5 및 10ml/kg/day의 용량으로 흰쥐 태아의 기관형성기인 임신 7일에서 17일까지 매일 1회씩 투여하여 본 결과다음과 같은 성적을 얻었다. 1. 모체의 체중, 임상증상 및 황체의 수에서 대조군과 약제투여군 사이에 별다른 차이를 나타내지 않았으며 사망한 것도 없었다. 2. 태아의 체중 및 평균 태자수에서 대조군과 약제투여군 사이에 차이를 나타내지 않았으나 태아의 재흡수에서는 약제투여 농도가 높을수록 다소 증가하였다. 그러나 사망한 태아는 없었다. 3. 약제투여군에서 두정골(parietal bone), 부전골(metatarsal bone), 완전골(metacarpal bone) 및 anterior phalanges ossified center에서 골화지연(delayed ossification) 현상이 나타났다.

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Stable isotope and rare earth element geochemistry of the Baluti carbonates (Upper Triassic), Northern Iraq

  • Tobia, Faraj Habeeb
    • Geosciences Journal
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    • 제22권6호
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    • pp.975-987
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    • 2018
  • Stable isotope ratios of $^{18}O/^{16}O$ and $^{13}C/^{12}C$ and rare earth elements geochemistry of the Upper Triassic carbonates from the Baluti Formation in Kurdistan Region of Northern Iraq were studied in two areas, Sararu and Sarki. The aim of the study is to quantify the possible diagenetic processes that postdated deposition and the paleoenvironment of the Baluti Formation. The replacement products of the skeletal grains by selective dissolution and neomorphism probably by meteoric water preserved the original marine isotopic signatures possibly due to the closed system. The petrographic study revealed the existence of foraminifers, echinoderms, gastropods, crinoids, nodosaria and ostracods as major framework constituents. The carbonates have micritic matrix with microsparite and sparry calcite filling the pores and voids. The range and average values for twelve carbonate rocks of ${\delta}^{18}O$ and ${\delta}^{13}C$ in Sararu section were -5.3‰ to -3.16‰ (-4.12‰) and -2.94‰ to -0.96‰ (-1.75‰), respectively; while the corresponding values for the Sarki section were -3.69‰ to -0.39‰ (-2.08‰) and -5.34‰ to -2.70‰ (-4.02‰), respectively. The bivariate plot of ${\delta}^{18}O$ and ${\delta}^{13}C$ suggests that most of these carbonates are warm-water skeletons and have meteoric cement. The average ${\Sigma}REE$ content and Eu-anomaly of the carbonates of Sararu sections were 44.26 ppm and 1.03, respectively, corresponding to 22.30 ppm and 0.93 for the Sarki section. The normalized patterns for the carbonate rocks exhibit: (1) non-seawater-like REE patterns, (2) positive Gd anomalies (average = 1.112 for Sararu and 1.114 for Sarki), (3) super chondritic Y/Ho ratio is 31.48 for Sararu and 31.73 for Sarki which are less than the value of seawater. The presence of sparry calcite cement, negative $^{13}C$ and $^{18}O$ isotope values, the positive Eu anomaly in the REE patterns (particularly for Sararu), eliminated Ce anomaly ($Ce/Ce^{\ast}$: 0.916-1.167, average = 0.994 and 0.950-1.010, average = 0.964, respectively), and Er/Nd values propose that these carbonates have undergone meteoric diagenesis. The REE patterns suggest that the terrigenous materials of the Baluti were derived from felsic to intermediate rocks.

An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

  • Seo, Go Hun;Oh, Arum;Kang, Minji;Kim, Eun Na;Jang, Ja-Hyun;Kim, Dae Yeon;Kim, Kyung Mo;Yoo, Han-Wook;Lee, Beom Hee
    • Journal of Genetic Medicine
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    • 제16권1호
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    • pp.39-42
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    • 2019
  • KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5-9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.

쇄골두개 이형성증 환자에 관한 증례보고 (CLEIDOCRANIAL DYSPLASIA : REPORT OF A CASE)

  • 이연호;유승훈;김종수
    • 대한소아치과학회지
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    • 제32권4호
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    • pp.703-708
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    • 2005
  • 쇄골두개 이형성증은 구강내에서 치아의 맹출 지연과 함께. 두개골 쇄골 및 안면의 비정상적인 성장을 보이는 상염색체 우성 유전 증후군이다. 이 증후군의 특징적인 소견으로, 쇄골이 양측성으로 존재하지 않거나 혹은 불완전한 구조로 존재하는 것을 들 수 있다. 또한 두개골 성장에 있어서 전두골, 후두골판은 다른 골과는 다르게 크기가 증가하여 비정상적 인 형태의 머리모양을 보인다. 두개골의 어떤 부위에는 충분한 골성장이 결여되어 봉합선이 매우 넓어져 있으며 방사선 사진상에서 봉합이 열려있는 상태로 관찰된다. 코는 대개 편평하고 넓으며, 일반적으로 상악의 성장이 부족하여 상대적으로 하악이 커 보인다. 구강내 소견으로는, 유치의 흡수가 늦어지며, 그 결과 영구치도 정상인보다 늦게 맹출되는 양상이 관찰된다. 20세 이상의 쇄골두개 이형성증 환자의 구강내에서 유치를 흔히 발견할 수 있다. 또한 다수의 과잉치가 존재하는데, 이는 구강내 전체에 걸쳐 존재할 수도 있다. 대부분의 쇄골두개 이형성증 환자는, 영구치 맹출 장애가 일어날 때까지 자신의 치과적 문제점을 인식할 수 없기 때문에, 적절한 치료시기를 지나서 치과병원에 내원하는 경우가 많다. 소아환자를 치료하는 치과의사는 쇄골두개 이형성증 환자의 치열 발육에 관한 지식을 숙지하여, 이러한 환자들이 적절한 시기에 치료를 받을 수 있도록 한다.

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