• 한국동물생명공학회지
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• 제34권3호
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• pp.253-258
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• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.

• Neonatal Medicine
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• 제15권2호
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• pp.200-206
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• 2008

안면 기형, 삼각두, 뇌량 무형성, 감각 신경성 난청, 시각장애, 심기형, 심근병증, 폐동맥 고혈압, 배꼽 탈장과 생식기 기형이 있는 환아에게 동반된 9번 염색체 단완이질염색질 부위의 첨가를 발견하여 9번 염색체 p13 부위의 첨가와 연관된 다발성 기형의 발생을 보고하는 바이다.

• The Korean Journal of Pain
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• 제35권1호
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• pp.86-96
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• 2022

Background: To explore the association between low back pain (LBP) and pelvic pain (PP) and rectus abdominis diastasis (RAD) in postpartum women and identify the characteristics and risk factors. Methods: Women diagnosed with RAD and a history of labor and delivery, between 2009 and 2018, were identified from six hospitals within the Partners Healthcare System. Univariate and multivariable binary logistic regression analyses were used to identify the risk factors associated with pain. Results: Age at onset of RAD in the non-cesarean delivery group was earlier than those in cesarean delivery (CD) group (P = 0.017). Women who underwent CD demonstrated 4.5 times greater risk of RAD than those who had no CD exposure. The cumulative composition ratio of LBP at every age stage of the period from 8 years pre-first delivery to 8 years post-first delivery was significantly higher than the other five conditions (RAD, umbilical hernia, PP, depressive disorder [DD], and strain of muscle, fascia, and tendon [SMFT]) (P for trend < 0.001). Women with DD, SMFT, and PP were more likely to have LBP (odds ratio [OR] = 1.91, 95% confidence interval [CI] 1.06 to 3.47, P = 0.032; OR = 4.50, 95% CI 1.64 to 12.36, P = 0.003; OR = 2.14, 95% CI 1.17 to 3.89, P = 0.013; respectively). Conclusions: In postpartum women with RAD, DD, SMFT, and PP were found to be risk factors contributing to the development of LBP. Race and LBP also played roles in the development of PP.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• 대한장애인치과학회지
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• 제6권2호
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• pp.94-98
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• 2010

저자는 Axenfeld-Rieger 증후군을 가지는 5세 8개월 연환에 대한 구강 및 두개 안면에 대한 임상적, 방사선학적 관찰을 통해 다음과 같은 지견을 얻었다. 1. 본 증례의 환아는 Axenfeld-Rieger 증후군의 전형적인 안과적, 구강적, 전신적 특징인 녹내장, 동공이상, 제탈장, 지연된 골령, 다수 치아 및 치배 결손, 상악 저성장 등을 보였다. 2. 이에 대한 주기적인 관찰과 적절한 시기의 치료개입이 중요하다. 3. 치과의사에 의한 조기진단이 녹내장 등에 의한 시력상실을 방지하기 위해 중요하다.