• Title/Summary/Keyword: maldevelopment

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Experience of Single Stage Treatment of Caniosynostosis, Hypertelorism, Exophthalmos Patient (두개조기유합증, 안와격리증, 안구돌출증 환자의 동시 교정 치험례)

  • Chung, Chul Hoon;Eun, Seok Chan;Seo, Dong Kuk;Jo, Woo Sung;Park, Se Hyuck
    • Archives of Plastic Surgery
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    • v.33 no.2
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    • pp.237-240
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    • 2006
  • The simultaneous correction of the hypertelorism and exophthalmos combined with craniosynostosis is very rarely performed operative procedures in the world. The craniosynostosis is the congenital anomaly that designates premature fusion of one or more sutures in either cranial vault or cranial base. Hypertelorism is not a distinct clinical syndrome in itself, but is a physical finding secondary to facial and cranial maldevelopment and it is defined as a increase in the distance between the medial orbital walls. Exophthalmos can occur following the decrease in the size of the orbit in patients with developmental skeletal disorders such as craniofacial synostosis. The authors experienced 9-year-old male patient, who has complex cranio-facial abnormality. The craniosynostosis was oxycephaly type and primary fronto-orbital advancement surgery had been performed in other hospital. The abnormal cranial vault combined with hypertelorism and exophthalmos due to maldeveloped both orbital walls. Surgical correction was obtained by various cranio-fronto-orbital remodeling technique such as calvarial bone craniotomy, fronto-orbital advancement, paramedian resection, medial canthopexy, Tessier-Wolfe three wall orbital expansions. We achieved a quite satisfactory result both functionally and aesthetically in a complex cranio-facial deformity patient by combination and modification of previously developed various cranio-facial plasty technique and hereby report the case with brief discussion and review of literature.

A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney (일측성 신장 무형성을 동반한 제 1형 비타민 D 의존성 구룻병 1례)

  • Lim, Dong-Hee;Jung, Ji-In;Yim, Hyung-Eun;Eun, Baik-Lin;Yoo, Kee-Hwan;Hong, Young-Sook;Lee, Joo-Won
    • Childhood Kidney Diseases
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    • v.12 no.1
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    • pp.111-115
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    • 2008
  • Vitamin D-dependent rickets(VDDR) is a rare autosomal disorder, characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type I VDDR is due to congenital defects of renal 1${\alpha}$-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-$(OH)_2D3$. Type II VDDR arise from target organ resistance to 1,25-$(OH)_2D3$. Unilateral renal aplasia is generally thought to result from a lack of induction of the metanephric blastema from the ureteral bud, which may be secondary to ureteral bud maldevelopment and/or to a problem with the formation of the mesonephric duct. The incidence of unilateral renal aplasia is approximately 1/500-3,200. Type 1 VDDR associated with unilateral renal aplasia has not been reported yet. Thus we report a case of a 3 month old female infant diagnosed as type 1 VDDR with unilateral aplasia of kidney.

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The Effects of Unpredictable Stress on the LHR Expression and Reproductive Functions in Mouse Models (실험적 마우스 모델에서 예측 불가능한 스트레스가 황체형성호르몬 수용체의 발현과 생식기능에 미치는 영향에 관한 연구)

  • Choi, Sung-Young;Park, Jin-Heum;Zhu, Yuxia;Kim, Young-Jong;Park, Jae-Ok;Moon, Changjong;Shin, Taekyun;Ahn, Meejung;Kim, Suk-Soo;Park, Young-Sik;Chae, Hyung-Bok;Kim, Tae-Kyun;Kim, Seung-Joon
    • Journal of Veterinary Clinics
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    • v.31 no.5
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    • pp.394-402
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    • 2014
  • The objective of this study was to investigate the effect of chronic unpredictable stress on the reproductive function and ovarian luteinizing hormone receptor (LHR) expression. 9-week-old C57BL/6 female mice were randomly divided into two groups: control group and stressed group. Mice have been stressed twice a day for 35 days with 12 different stressors which were randomly selected. The results demonstrate that there is significant increase in the anxiety-related behaviors (P < 0.05), decrease body weight gain rate (P < 0.01) and decrease in the average of litter size in stressed mice compared with control group (P < 0.01). Furthermore, the rate of primary, secondary and early antral follicles in stressed mice significantly decreased (P < 0.05), whereas that of atretic follicles significantly increased compared with control mice (P < 0.01). The immunohistochemical analysis revealed that reduced LHR expression in granulosa cells of follicle and luteal cells of corpus luteum in response to chronic unpredictable stress. The western blot analysis revealed significantly decrease in LHR expression in the stressed mice ovaries compared with the control (P < 0.05). These results suggest that ovarian LHR expression affected by chronic unpredictable stress and the modulated ovarian LHR is responsible for ovarian follicular maldevelopment and reproductive dysfunction.