• Journal of Animal Reproduction and Biotechnology
• /
• v.34 no.3
• /
• pp.253-258
• /
• 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
• /
• v.15 no.2
• /
• pp.200-206
• /
• 2008

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

• The Korean Journal of Pain
• /
• v.35 no.1
• /
• pp.86-96
• /
• 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
• /
• v.19 no.1
• /
• pp.32-37
• /
• 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.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.6 no.2
• /
• pp.94-98
• /
• 2010

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. The incidence of Axenfeld-Rieger syndrome has been estimated to be 1 per 200,000. The syndrome is characterized by short body stature, delayed bone age, and deficient or arrested development of neural crest cells involving the anterior chamber of the eyes, facial bones, teeth, periumbilical skin, and cardiovascular system. This is a case of a 6 year-old girl, who came to the department of the pediatric dentistry, Yonsei University Dental Hospital, for evaluation and treatment of multiple congenital missing permanent teeth. The patient presented typical dental, craniofacial, and systemic features of Axenfeld-Rieger syndrome, such as glaucoma, oval pupil, heterochromatic iris, umbilical hernia, and delayed bone age. On the panoramic view, 3 primary teeth were missing and 13 permanent tooth germs were absent. On the lateral cephalograph, underdevelopment of the maxilla and normal growth pattern of the mandible were confirmed. Periodic dental follow-up is planned for evaluation and interceptive treatment of her dental and craniofacial problems. Denture or removable space maintainer with a pontic is considered for esthetic and functional restoration. In addition, orthognathic surgery is also planned in future to prevent further midfacial skeletal deformation. Early diagnosis of Axenfeld-Rieger syndrome is very important to prevent exacerbation of complications, such as glaucoma and skeletal deformities.