• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.119-122
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• 2011

Achondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant trait. Clinical features of achondroplasia include disproportionate short stature with normal trunk length, shortening of the extremities, bowing of the lower extremities, short stubby trident hands, spinal stenosis and lumbar lordosis. Characteristic craniofacial features include macrocephaly, prominent forehead, depressed nasal bridge, maxillary hypoplasia, otolaryngeal system dysfunction, and foramen magnum stenosis. These characteristics may lead to number of complications including hydrocephalus, apnea, upper-airway obstruction, otitis media, sinusitis and dental malocclusion. Apart from these features, the affected children have good general health and normal intelligence. Dentists should be aware of the clinical characteristics of achondroplasia and the complications that may arise as a result of this disorder. This case report is to present dental treatment of a patient with achondroplasia under general anesthesia and discuss special considerations.

• Korean Journal of Environmental Biology
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• v.36 no.4
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• pp.456-462
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• 2018

The purpose of this study was to assess cross-generational effects of bisphenol A exposure in benthic copepods, Tigriopus west. Nauplii (<24 hours old) were exposed to graded concentrations of bisphenol A, and toxicity end-points such as survival, development, sex ratio, and fecundity were measured. $F_1$ generations were grown under innoxious conditions, and similarly assessed. Significant differences were observed in development of nauplii and copepodites, between exposed and non-exposed copepods; however, there were no differences in survival of nauplii or copepodites, sex ratio, or brooding rate in parental generation. In contrast, in the $F_1$ generation, there were significant differences between the control group and exposed group in survival and development of nauplii. Length, width, and biomass of parental and $F_1$ generations were reduced in the exposed group compared to the control group. In addition, some deformities, such as swelling of the prosome, abnormally shaped egg sac, and dwarfism were observed after exposure to bisphenol A. So, our study demonstrates that a cross-generation toxicity test and monitoring of morphological deformities in harpacticoid copepods, can be useful for development of potential bioindicators for environmental monitoring, and assessment of chemical impact.

• Animal cells and systems
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• v.15 no.4
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• pp.310-314
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• 2011

The Banna miniature pig (BNMP) is a representative miniature pig breed in China. Even though BNMP dwarfism is obvious, its underlying causative mutations remain unknown. In this study, the BNMP and Large White pig (LWP) serum growth hormone (GH) and insulin-like growth factor (IGF-1) levels were detected by ELISA and compared. BNMP serum IGF-1 levels were significantly lower than LWP levels (P<0.05). The miniature condition may arise from mutations in the GH and GH receptor (GHR) genes. Therefore, GH and GHR cDNA from the BNMP were cloned into a pMD18-T vector by RT-PCR using the total RNA obtained from the BNMP's pituitary and liver tissues. Sequencing results indicated that the open reading frame of the BNMP GH gene is composed of a 26-residue signal peptide and a 191-residue mature peptide. The coding sequence of the BNMP GHR gene contained 639 amino acids, including a signal peptide that is 18 amino acids long. Two amino acid substitutions, A09V and R22Q, were found in the signal peptide of the GH gene. Additionally, the S104P mutation was found in the BNMP's mature GH protein. Four mutations in the cytoplasmic domain of GHR may influence the downstream signal transduction of GHR, which needs further experimental evidence.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.1
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• pp.10-14
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• 2010

Vitamin D-resistant rickets(VDRR) is hereditary disease manifesting marked hypophosphatemia caused by renal tubular loss of phosphate into urine and an associated decrease in the calcium and phosphorous ion product. VDRR is identified by clinical symptoms, such as in the limbs, gait disturbance, dwarfism, familial occurrence, bowlegs, and knock-knees, as well as by laboratory findings. Dental findings are enlarged chambers and extension of the pulp horns into the cusp tips in both the primary and the permanent dentition in contrast to the vitamin D-deficient rickets. The major oral manifestations are multiple spontaneous abscesses in a caries-free dentition. We reported the clinical features and treatment of a 6-year-old boy with vitamin D-resistant rickets referred to the department of pediatric dentistry in Kyung Hee University for multiple spontaneous periapical abscesses and gingival fistula without severe dental caries.

• Ocean and Polar Research
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• v.32 no.4
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• pp.369-377
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• 2010

To characterize ecotoxicological responses to a natural estrogen, $17{\beta}$-estradiol, we evaluated the life-history of the parental ($F_0$) and first generation ($F_1$) of the harpacticoid copepod, Tigriopus japonicus sensu lato. We evaluated the survival of nauplii and copepodites, the number of days until the emergence of copepodites and adult males, the sex ratio, brooding success, and the first brooding day of adult females. No significant differences in the survival rate were noted in response to treatments with different concentrations of $17{\beta}$-estradiol. However, $17{\beta}$-estradiol induced developmental delay and skewed the sex ratio toward males. Copepod development was delayed significantly in the 0.1 and $1\;{\mu}g\;l^{-1}$ $17{\beta}$-estradiol treatment groups relative to the control group, with a more pronounced delay in the $F_1$ group. Body length and biomass were significantly smaller in the $17{\beta}$-estradiol treated groups than in the controls. The male emergence of T. japonicus s.l. was very high in the 10 and $30\;{\mu}g\;l^{-1}$ $17{\beta}$-estradiol treatment group. Furthermore, exposure to $17{\beta}$-estradiol resulted in morphological deformities such as shrinking and swelling of the urosome, twisted setae of the caudal rami, setal loss of swimming legs, abnormal segmentation of antennules, and dwarfism.

• The Korean Journal of Pain
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• v.19 no.2
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• pp.288-291
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• 2006

Epidural analgesia using an epidural catheter is an effective method to relieve the pain during the rehabilitating procedure for postoperative orthopedic patients. Total spinal anesthesia is one of the possible complications of epidural catheterization which can lead to a life-threatening condition. Achondroplasia is the most common form of short-limbed dwarfism resulting from a failure of endochondral bone formation. In patients suffering with short stature syndrome like achondroplasia, the incidence and risk of total spinal anesthesia during epidural anesthesia may increase because of the technical difficulty and structural anomaly of the spine. We report here on a 35-year old female patient with a height of a 115 cm. She was diagnosed as achondroplasia and she had a previous Ilizarov operation; both tibial lengthening and correction of valgus were done. No specific event occurred during epidural catheterization. Immediately after the injection of a test dose via epidural catheter, the patient became hypotensive, drowsy and showed weakness of both her upper and lower extremities. The symptoms were disappeared after 40 minutes. The catheter was removed on the next day. We concluded that the total spinal anesthesia was caused by intrathecal injection of local anesthetics through the epidural catheter, and the anesthesia then migrated into the subarachonoid space.

• Molecules and Cells
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• v.28 no.2
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• pp.93-98
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• 2009

A plant-specific gene was cloned from melon fruit. This gene was named downward leaf curling (CmDLC) based on the phenotype of transgenic Arabidopsis plants overexpressing the gene. This expression level of this gene was especially upregulated during melon fruit enlargement. Overexpression of CmDLC in Arabidopsis resulted in dwarfism and narrow, epinastically curled leaves. These phenotypes were found to be caused by a reduction in cell number and cell size on the adaxial and abaxial sides of the epidermis, with a greater reduction on the abaxial side of the leaves. These phenotypic characteristics, combined with the more wavy morphology of epidermal cells in overexpression lines, indicate that CmDLC overexpression affects cell elongation and cell morphology. To investigate intracellular protein localization, a CmDLC-GFP fusion protein was made and expressed in onion epidermal cells. This protein was observed to be preferentially localized close to the cell membrane. Thus, we report here a new plant-specific gene that is localized to the cell membrane and that controls leaf cell number, size and morphology.

• Neonatal Medicine
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• v.17 no.1
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• pp.141-146
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• 2010

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.

• Journal of Life Science
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• v.8 no.1
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• pp.8-13
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• 1998

The maize mitochondrial mutant (NCS2) is derived from homologous recombination between genes encoding NADH dehydrogenase subunit 4 and subunit 6. Plants from mitochondria mutants exhibited severe related growth and development including dwarfism and striping on the leaves. Aborted embryos from NCS2 mutants have been rescued and cultured on the N6 medium supplemented with 2,4-D 1 mg/l. Most calli from NCS2 aborted embryos showed slow growing pattern at first stage. However, upon continuous culturing them on the medium, those were segregated into mutant and normal callus lines. These segregations could be detected by using PCR method with three primers. Such segregation seems to be resulted from the preferential growth of normal cells over the mutant cells on the normal culture condition. Therefore, this method can be used for determining rate of indirect cytoplasmic segregation by estimating amplified band intensities. When NCS2 mutant callus lines cultured on regeneration medium, no adventitious shoot induction was observed. However, callus lines with more mitochondria induced adventitious shoots. These studies suggest that mitochondria NADH-dehydrogenase for electron transport in the inner membrane of mitochondria is essential for the differentiation and development of plants.

• Journal of Integrative Natural Science
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• v.4 no.2
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• pp.113-120
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• 2011

Brassinosteroids (BRs) are plant steroid hormones that play essential roles in growth and development. Mutations in BR-signaling pathways cause defective in growth and development like dwarfism, male sterility, abnormal vascular development and photomorphogenesis. Transition from vegetative to reproductive growth is a critical phase change in the development of a flowering plant. In a screen of activation-tagged Arabidopsis, we identified a mutant named abz126 that displayed longer hypocotyls when grown in the dark on MS media containing brassinazole (Brz), an inhibitor of BRs biosynthesis. We have cloned the mutant locus using adapter ligation PCR walking and identified that a single T-DNA had been integrated into the ninth exon of the GIGANTEA (GI) gene, involved in controling flowering time. This insertion resulted in loss-of-function of the GI gene and caused the following phenotypes: long petioles, tall plant height, many rosette leaves and late flowering. RT-PCR assays on abz126 mutant showed that the T-DNA insertion in GIGANTEA led to the loss of mRNA expression of the GI gene. In the hormone dose response assay, abz126 mutant showed: 1) an insensitivity to paclobutrazole (PAC), 2) an altered response with 6-benzylaminopurine (BAP) and 3) insensitive to Brassinolide (BL). Based on these results, we propose that the late flowering and tall phenotypes displayed by the abz126 mutant are caused by a loss-of-function of the GI gene associated with brassinosteroid hormone signaling.