PubMed Health⌕ Search

Biomedical subjects

Hee-Jin Kim

Publications and source records attributed to Hee-Jin Kim.

At least 19 recordsLinked to original sources

Molecular interactions between Tbx3 and Bmp4 and a model for dorsoventral positioning of mammary gland development.

The formation of the dorsoventral (DV) boundary is central to establishing the body plan in embryonic development. Although there is some information about how limbs are positioned along the DV axis and how DV skin color pattern is determined, the way in which mammary glands are positioned is unknown. Here we focus on Bmp4 and Tbx3, a gene associated with ulnar-mammary syndrome, and compare their expression along the DV axis in relation to mammary gland initiation in mouse embryos. Tbx3 is expressed in the mammary gland-forming region with Tbx15, a gene involved in a DV coat color being expressed more dorsally and Bmp4 being expressed more ventrally. When Tbx3 was overexpressed, formation of mammary gland epithelium was extended along the DV axis. In contrast, overexpression of Bmp4 inhibited both Tbx3 and Tbx15 expression. In addition, when BMP signaling was inhibited by NOGGIN, Lef1 expression was lost. Thus, we propose that mutual interactions between Bmp4 and Tbx3 determine the presumptive DV boundary and formation of mammary glands in early mouse embryogenesis. 1,19-Dioctadecyl-3,3,39,39-tetramethyl indocarbocyanine perchloride labeling experiments showed that cells associated with mammary glands originate more dorsally and then move ventrally. This finding, together with previous findings, suggests that the same DV boundary may not only position limbs and determine coat color but also position mammary glands. Furthermore, Bmp signaling appears to be a fundamental feature of DV patterning.

Animals↗

Topographic relationship between the muscle bands of the zygomaticus major muscle and the facial artery.

The aim of this study was to clarify the spatial relationship between the facial artery and the insertion of the zygomaticus major muscle in the perioral region. In 30 of 70 dissections (42.9%), the facial artery passed through the separate muscle bands of the zygomaticus major muscle. The mean diameter of the facial artery passing through the zygomaticus major muscle in this region was 1.74 mm (range 0.82-2.86 mm). The relationship between the facial artery and the insertion of the zygomaticus major muscle in the perioral region described in this study is expected to provide critical information for surgical planning and procedures around the perioral region.

Aged↗

Expression of Livin, an antiapoptotic protein, is an independent favorable prognostic factor in childhood acute lymphoblastic leukemia.

Livin, a member of the inhibitor of apoptosis proteins, has been considered to be a poor prognostic marker in malignancies. However, little is known about the clinical relevance of Livin expression in childhood acute lymphoblastic leukemia (ALL). In this study, the expression of Livin was analyzed in 222 patients with childhood ALL using quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) to investigate a possible association with the clinical features at diagnosis and treatment outcomes. Both Livin expression rates and expression levels were higher in patients with favorable prognostic factors. The expression rate was also higher in patients with a favorable day 7 bone marrow response to induction chemotherapy (P<.001). The Livin expression was related to the absence of relapse (P<.001). Similarly, the relapse-free survival rate (+/-95% CI) was higher in patients with Livin expression than in patients without Livin expression (97.9%+/-4.0% versus 64.9%+/-11.8%, P<.001). Multivariate analysis for relapse-free survival demonstrated that Livin expression was an independent favorable prognostic factor in childhood ALL (P=.049). This study suggests that Livin expression is a novel prognostic marker in childhood ALL and thus needs to be incorporated into the patient stratification and treatment protocols.

Adaptor Proteins, Signal Transducing↗

Characteristics of muscle fibers reconstituted in the regeneration process of masseter muscle in an mdx mouse model of muscular dystrophy.

Mdx mice, which lack dystrophin, were examined for changes in the properties of muscle fibers in the growth process of the masseter muscle at the morphological, protein and transcriptional levels. The slow-type isoform, MyHC-1, and the fast-type isoforms, MyHC-2a, MyHC-2d and MyHC-2b, were examined at the protein and the transcriptional level. Morphological examination showed that in the mdx mouse masseter muscle, degeneration, necrosis, and regeneration occurred, particularly at the age of 4 weeks, and many regenerated muscle fibers with centrally located nuclei were observed at the age of 9 weeks. The results of examination at the protein and the transcriptional level showed that in the process of muscle fiber degeneration, necrosis, and regeneration, the mdx mouse masseter muscle acquires muscle fiber characteristics entirely different from those in the normal mouse masseter muscle. In particular, MyHC-1, which is rarely found in normal mice, was very strongly expressed.

Animals↗

Soft-tissue and cortical-bone thickness at orthodontic implant sites.

INTRODUCTION: To obtain sufficient stability of implants, the thickness of the soft tissue and the cortical bone in the placement site must be considered. However, the literature contains few anatomical studies of orthodontic implants. METHODS: To measure soft-tissue and cortical-bone thicknesses, maxillae from 23 Korean cadavers were decalcified, and buccopalatal cross-sectional specimens were obtained. These specimens were made at 3 maxillary midpalatal suture areas: the interdental area between the first and second premolars (group 1), the interdental area between the second premolar and the first molar (group 2), and the interdental area between the first and second molars (group 3). RESULTS: In all groups, buccal soft tissues were thickest closest to and farthest from the cementoenamel junction (CEJ) and thinnest in the middle. Palatal soft-tissue thickness increased gradually from the CEJ toward the apical region in all groups. Buccal cortical-bone was thickest closest to and farthest from the CEJ and thinnest in the middle in groups 1 and 2. Palatal cortical-bone thickness was greatest 6 mm apical to the CEJ in groups 1 and 3, and 2 mm apical to the CEJ in group 2. Along the midpalatal suture, palatal mucosa remained uniformly 1 mm thick posterior to the incisive papilla. CONCLUSIONS: Surgical placement of miniscrew implants for orthodontic anchorage in the maxillary molar region requires consideration of the placement site and angle based on anatomical characteristics.

Alveolar Process↗

Increased expression of sonic hedgehog and altered methylation of its promoter region in gastric cancer and its related lesions.

The hedgehog (Hh) signaling pathway plays an important role in foregut development, and its activity is increased in various tumors, including those of the digestive tract. Our objective in the present study was to determine the pattern and extent of Sonic hedgehog (Shh) expression in gastric cancer and related lesions as well as the methylation status of its promoter region, in an attempt to clarify the regulatory mechanism of Shh expression. A total of 237 gastric cancers and related lesions (89 carcinomas, 22 high-grade dysplasia, 21 low-grade dysplasia, 47 intestinal metaplasia, 38 chronic gastritis, and 20 normal epithelia) were subjected to immunohistochemical analysis with the Shh monoclonal antibody. The methylation status of Shh was determined by methylation-specific PCR (MS PCR), involving bisulfate treatment of DNA from 150 tissues followed by amplification using specific primer pairs designed by our group. Shh was completely absent in the upper part of normal gastric epithelia (gastric pit cells), and no significant differences were observed among the lower parts of normal epithelia, chronic gastritis, and intestinal metaplasia. However, Shh expression was significantly elevated in neoplastic lesions, such as carcinoma and high low-grade dysplasia, compared to non-neoplastic lesions. In carcinomas, Shh expression was associated with clinical stage, direct tumor invasion, and differentiation of tumor cells. Methylation of the Shh promoter region was frequent in normal gastric pit cells (11/18, 61.1%), but very rare in gastritis (0/18), intestinal metaplasia (0/19), dysplasia (0/10), and carcinoma (1/63, 1.6%), and correlated significantly with expression (P<0.001). Our results suggested that the increased and constitutive Shh expression is implicated in gastric carcinogenesis, and that promoter methylation may be an important regulatory mechanism of Shh expression.

Adult↗

Lack of a genetic association between the CTLA-4 gene and Graves' disease in Koreans.

Graves' disease (GD) is a complex autoimmune thyroid disease with a strong genetic component. The cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene, which encodes a negative regulator of the T-lymphocyte immune response, has been reported to be associated and/or linked to GD. Therefore, in order to determine the contribution of CTLA-4 in GD in Koreans, we genotyped the five single nucleotide Polymorphisms (SNPs) of the CTLA-4 gene, including +49, CT60, JO31, JO30, and JO27-1 in Korean spatients with GD and healthy controls. Two hundred seventy-eight Korean patients with GD from the Thyroid Clinic and 472 healthy controls from the Health Screening Center of Samsung Medical Center were enrolled in this study. The +49A/G polymorphism of the CTLA-4 gene exon 1 was sequenced directly and the genotyping of the remaining 4 SNPs was accomplished using a Snapshot. In addition, the association of haplotypes with a combination of the above markers was also examined in 278 Korean patients with GD and 472 controls. The results showed that there was no significant positive association between any individual SNP or haplotype comprising of the four 3 untranslated region (UTR) SNPs (CT60, JO31, JO30, and JO27-1) and GD. These data provide little support for CTLA-4 to play a role in the genetic predisposition to GD in Koreans. However, it will be necessary to validate or replicate this association in other independent large-size ethnic groups.

3' Untranslated Regions↗

A boy with acute lymphoblastic leukemia acquired clonal and nonclonal cytogenetic abnormalities including del(7q) and del(20q) without clinical evidence of disease after sex-mismatched cord blood transplantation.

An 8-year-old boy was diagnosed with precursor B-cell acute lymphoblastic leukemia. After intensified chemotherapy, he underwent sex-mismatched allogeneic cord blood transplantation. Postcord blood transplantation cytogenetic studies revealed engraftment failure evidenced by switching into the recipient type (XY), and, notably, various complex chromosomal aberrations in the recipient cells. Nonclonal and clonal aberrations including deletions of 7q and 20q were persistently observed. Nonetheless, the patient was clinically stable without evidence of marrow dysplasia or leukemic cells. Del(7q) and del(20q), 2 recurrent chromosomal aberrations in myeloid neoplasia, might represent underlying genomic instability in this patient, not the direct culprits of dysplasia or leukemogenesis.

Blood Group Incompatibility↗

Branching patterns of the infraorbital nerve and topography within the infraorbital space.

The infraorbital nerve (ION) is the terminal branch of the maxillary nerve; it supplies the skin and mucous membranes of the middle portion of the face. This nerve is vulnerable to injury during surgical procedures of the middle face. Severe pain and loss of sense are noted in patients whose infraorbital nerve is damaged. In the study presented here, we investigated the branching pattern and topography of the ION, about which little is currently known, by dissecting 43 hemifaces of Korean cadavers. In most cases, the infraorbital artery was located in the middle (73.8%) and superficial to the ION bundle (73.8%) at its exit from the infraorbital canal. The ION produced four main branches, the inferior palpebral, internal nasal, external nasal, and superior labial branches. The superior labial branch was the largest branch of the ION produced the most sub-branches. These sub-branches were divided into the medial and lateral branches depending upon the area that they supplied. We were able to classify four types of branching pattern of the external and internal nasal branch and the medial and lateral sub-branches of the superior labial branch of the ION at the site of their emergence through the infraorbital foramen (types I-IV). Type I, where all four branches are separated occurred the most frequently (42.1%). These findings will help to preserve the ION while performing certain types of maxillofacial surgery, such as removal of a tumor from the upper jaw and fracture of the upper jaw.

Adult↗

An anatomical study of the buccinator muscle fibres that extend to the terminal portion of the parotid duct, and their functional roles in salivary secretion.

Until now there has been no definitive anatomical study describing the area where the parotid duct enters the buccinator muscle. In this study, we performed anatomical and histological examinations to investigate the relationship between the parotid duct and the buccinator muscle. Thirty specimens (including the buccinator and the terminal portion of the parotid duct) were obtained from embalmed Korean cadavers. Dissection was performed on 22 of these specimens, and the remaining eight specimens were prepared for histological examination and stained with haematoxylin-eosin or Gomori trichrome. In all specimens, small, distinct muscle fibres originating from the buccinator muscle extended to and inserted into the terminal portion of the parotid duct. The topography of these fibres varied, and we classified them into three categories according to where they originated. Type I buccinator muscle fibres, which inserted into the terminal portion of the parotid duct, originated simultaneously from the anterior and posterior aspects of the duct (ten cases, 45.5%). Type II fibres originated from the anterior aspect of the duct and inserted into the anterior side of the duct (seven cases, 31.8%). Type III fibres originated from the posterior aspect of the parotid duct and ran anteriorly toward the duct (five cases, 22.7%). These results were confirmed in the histological examination of all eight specimens. Based on these findings, we have proposed a tentative description of the physiological role of the buccinator muscle fibres in salivary secretion and in the formation of the sialoliths.

Adult↗

Sex determination using nonmetric characteristics of the mandible in Koreans.

The mandible is the largest and hardest facial bone and retains its shape better than other bones in the forensic and physical anthropologic field. The mandible can be used to distinguish among ethnic groups and between sexes. We examined the morphological characteristics of the mandibles of 102 Koreans of either sex. Of 13 nonmetric items of the mandible, the characteristic that best allowed the sexes to be distinguished was the contour of the lower border of the mandible: rocker-shaped mandibles predominated in males (68.1%), whereas most females (84.6%) exhibited a straight mandible. In addition, the mental region was shaped differently between the sexes: the shape of the chin in most males was generally bilobate or square (91.7%), whereas the chin in females was either square (45.5%) or pointed (54.5%). In this study, the positive predict values of male and female were 92.5% and 73.7%, respectively. Therefore, the nonmetric method used to analyze the mandible in this study can be used for sex discrimination.

Adolescent↗

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder characterized by recurrent infection, eczema, and microthrombocytopenia. WAS is inherited in an X-linked recessive pattern, and various mutations in the WAS gene on the X chromosome are the genetic basis of WAS. A 7-month-old Korean boy presented with recurrent bloody diarrhea, eczema, and persistent thrombocytopenia with small platelets. Direct sequence analysis of the entire coding region of the WAS gene showed a novel nonsense mutation with a G-to-A substitution at the nucleotide position 756 on exon 8, leading to a premature termination at codon 252 (c.756G>A; p.W252X). Family study revealed that neither of the parents had the mutation, indicating the de novo occurrence of the mutation.

Asian People↗

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS. Mutation analysis of the MID1 gene in the patient and his mother demonstrated that the patient had a novel insertion mutation (c.1798_1799-insC), and his mother was a heterozygous carrier of the mutation. After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.

Abnormalities, Multiple↗

TP53BP2 locus is associated with gastric cancer susceptibility.

We investigated the association of the TP53BP2 locus with gastric cancer susceptibility in a Korean population. We assayed 9 single nucleotide polymorphisms (SNP) in an 82.5 kb region that included the TP53BP2 locus in 233 male gastric cancer patients and 390 unaffected healthy male controls. The allelic frequencies of 4 SNP within TP53BP2, g.206692C>T, g.198267A>T, g.164895G>A and g.152389A>T, differed significantly between cases and controls (p < or = 0.0376). When compared to carriers of non-risk alleles, individuals homozygotic for each of the risk alleles had a 50% increase in risk of gastric cancer (age-adjusted odds ratio [OR] > or = 1.48; p < or = 0.0371). Furthermore, these 4 significantly associated SNP were in strong linkage disequilibrium (r2 > or = 0.51). Haplotype analysis showed that individuals with the CAGA haplotype, consisting of the risk alleles at each SNP, had a 1.55-fold higher risk for gastric cancer than individuals with the haplotype TTAT, consisting of the non-risk alleles at each SNP (OR = 1.55; 95% confidence interval [CI] = 1.13-2.14; p = 0.00705). Two other SNP were not polymorphic in the study subjects, whereas the other 3 SNP, located toward the outside of the TP53BP2 locus, were not associated with gastric cancer susceptibility. Although the location of the pathogenic variant is not yet known, our results suggest that the TP53BP2 locus is associated with susceptibility to gastric cancer in the Korean population.

Adult↗

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

BACKGROUND: Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases, respectively. OBJECTIVE: To investigate the contribution of these 2 genes in the occurrence of HSP in Korean patients. DESIGN: Clinical and genetic study. SETTING: Tertiary care center. PATIENTS: Eighteen patients with uncomplicated HSP (11 AD and 7 sporadic) underwent screening for gene mutation. MAIN OUTCOME MEASURES: Mutations in the SPG4 and SPG3A genes as detected by direct sequencing of all coding exons and flanking intronic sequences. RESULTS: We identified 8 different SPG4 mutations, 7 of which have not been reported elsewhere. Among the detected mutations were 3 missense mutations, 2 in-frame deletions, 2 frameshift mutations, and 1 splice-site mutation. No mutation was found in the SPG3A gene. CONCLUSION: Compared with previous studies, a higher frequency of SPG4 gene mutations in AD-HSP (7/11; 64%) was observed, suggesting that a mutation analysis for the SPG4 gene might be helpful for molecular diagnosis of AD-HSP in Korean patients.

Adenosine Triphosphatases↗

Etomidate attenuates phenylephrine-induced contraction in isolated rat aorta.

PURPOSE: A previous study has shown that etomidate inhibits the angiotensin II-induced calcium influx in rat aortic smooth muscle cells. The goals of our current in vitro study were to investigate the effect of etomidate on phenylephrine-induced contraction in rat aorta, and to elucidate the associated signalling pathway. METHODS: Endothelium-denuded aortic rings were suspended for isometric tension recording. Concentration-response curves for phenylephrine (10(-9) to 10(-6) M), 5-hydroxytryptamine (10(-7) to 10(-4) M) and potassium chloride (10 to 60 mM) were generated in the presence and absence of etomidate (5 x 10(-6), 3 x 10(-5), 5 x 10(-5) M). For the rings pretreated with verapamil (10(-5) M), the phenylephrine concentration-response curves were generated in the presence and absence of etomidate (5 x 10(-5) M). In the rings exposed to calcium-free isotonic depolarizing solution, the contractile response induced by the addition of calcium was assessed in the presence and absence of etomidate (5 x 10(-5) M). RESULTS: Etomidate (5 x 10(-5) M) produced a significant rightward shift in the concentration-response curves for phenylephrine, 5-hydroxytryptamine and potassium chloride. Etomidate (5 x 10(-5) M) did not alter phenylephrine-induced contraction in the rings pretreated with verapamil. Etomidate (5 x 10(-5) M) significantly attenuated the contractile response induced by the addition of calcium in the calcium-free isotonic depolarizing solution. CONCLUSION: The results suggest that etomidate, which exceeds the clinically relevant concentration, attenuates the phenylephrine-induced contraction by having an inhibitory effect on the calcium influx by blocking the L-type calcium channels in the rat aortic vascular smooth muscle.

Anesthetics, Intravenous↗

Apical anatomy in mesial and mesiobuccal roots of permanent first molars.

The purpose of this in vitro study was to investigate the canal configuration types, and the prevalence and location of anatomical variations in the mesiobuccal (MB) and mesial roots of permanent maxillary and mandibular first molars after instrumentation. The number and the type of canals were determined before instrumentation using conventional methods. All root canals from the 47 MB roots and 42 mesial roots were then instrumented to size #30 with ProFile .04 taper rotary instruments in a crown-down method and then filled with a single gutta-percha cone and sealer. Transverse 1 mm-thick cross-sections at 2, 3, 4, and 5 mm from the apex were obtained, stained and examined using a stereomicroscope. The canal configuration types and the prevalence and location of isthmi and accessory canals in roots with two canals were evaluated. The prevalence of two canals was 80.8% in the maxillary MB roots and 95.2% in the mandibular mesial roots. There were six types of canal configurations in the instrumented root apices. The prevalence of anatomical variations was highest at the apical 4 mm level, and was more frequent in mandibular first molars, and in roots with Weine type III canal. chi test showed that the prevalence of the anatomical variations was statistically higher in the maxillary MB roots with Weine type III canals than in those with Weine type II canals (p < 0.05). Different canal configurations were often found at different levels in the same root. The results indicate that anatomical variations persist following instrumentation of roots with two canals in first molars. These anatomical variations should be considered during surgical or nonsurgical endodontic procedures of the permanent first molars.

Chi-Square Distribution↗