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Biomedical subjects

J Ahn

Publications and source records attributed to J Ahn.

At least 73 records · Page 4Linked to original sources
PubMed1999

Traumatic hemipelvectomy before body image has developed.

Traumatic hemipelvectomy is rarely observed because very few patients have survived from the initial trauma. We describe one male child who survived from this massive trauma with a good functional outcome. The boy was 28 months old when he was accidentally struck by a truck. He had severe open trauma of the pelvis and hemorrhage of the left lower limb. Amputation of the left hemipelvis, colostomy, cystostomy and removal of the left avulsed testicle were performed. Once healing had been achieved, he was transferred to our Department of Physical Medicine and Rehabilitation and rehabilitative management was begun, including prosthetic measurement and psychologic intervention for the patient and his parents. For 13 years of long-term follow-up, his prosthesis was readjusted annually. Now he is a 16-year-old middle school student. He is functioning remarkably well with a prosthesis. The psychologic report shows that he is emotionally stable and has good scholastic performance. Although hemipelvectomy appears to be a radical procedure in children, the potential for rehabilitation in a group of children before body image has developed appears to be unexpectedly good.

Adolescent↗
PubMed1999

[Evaluation of Wits appraisal with superimposition method].

OBJECTIVE: To compare the conventional Wits appraisal with superimposed Wits appraisal in evaluation of sagittal jaw relationship change between pre and post orthodontic treatment. METHODS: The sample consists of 48-case pre and post treatment lateral head films. Computerized digitizing is used to get the cephalometric landmarks and measure conventional Wits value, superimposed Wits value and ANB angle. The correlation analysis among these three measures was done by SAS statistical package. RESULTS: The change of ANB angle has higher correlation with the change of superimposed Wits than that of the conventional Wits. The r-value is as high as 0.849 (P < 0.001). CONCLUSION: The superimposed Wits appraisal reflects the change of sagittal jaw relationship more objectively than the conventional one.

Cephalometry↗
PubMed1998

Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization.

BACKGROUND: The 6p21.3 region of human chromosome 6 is a genetic locus for schizophrenia, juvenile myoclonic epilepsy, and dyslexia. METHODS: Due to our interest in these disorders we performed complementary DNA (cDNA) hybridization selection on genomic DNA clones spanning this region to identify potential positional-candidate genes. RESULTS: We identified a full-length cDNA with an open reading frame of 2883 bp corresponding to a predicted protein of 961 amino acids that shares greater than 95% homology with the rat gamma-aminobutyric acid B (GABAB) receptor. Northern blot hybridization identified a 4.4-kb transcript in human brain. The human gene mapped to two sites on 6p21.3 separated by 2 Mb. Sequence analysis of both sites showed that the centromeric gene is transcribed, whereas the telomeric site is likely a pseudogene. The transcribed gene is distributed over 22 exons spanning 18 kb of genomic DNA. CONCLUSIONS: The genomic location, tissue expression, and function of the human GABAB receptor gene suggest that it is an important positional-candidate for the neurobehavioral disorders with a genetic locus on 6p21.3. In addition, delineation of the genomic organization will now permit it to be integrated as part of pharmacogenetic studies in trials of anxiolytic, narcotic, antiepileptic, and fluoxetine therapies.

Blotting, Northern↗
PubMed1998

Identification of sorting determinants in the C-terminal cytoplasmic tails of the gamma-aminobutyric acid transporters GAT-2 and GAT-3.

In order to perform their physiologic functions, polarized epithelial cells must target ion transport proteins to the appropriate domains of their plasma membranes. Molecular signals responsible for polarized sorting have been identified for several membrane proteins which span the bilayer once. Most ion transport proteins are polytopic, however, and little is known of the signals responsible for the targeting of this class of polypeptides. Members of the gamma-aminobutyric acid (GABA) transporter family are polytopic membrane proteins found endogenously in both epithelial cells and neurons. We have identified narrowly defined sequences which are required for the proper accumulation of two members of this transporter family in Madin-Darby canine kidney cells. The highly homologous GABA transporter isoforms, GAT-2 and GAT-3, localize to the basolateral and apical surfaces, respectively, when expressed stably in Madin-Darby canine kidney cells. We have generated deletion constructs and chimeric transporters composed of complimentary portions of GAT-2 and GAT-3. We find that information which directs their differential sorting is present in the C-terminal cytoplasmic tails of these two polypeptides. A sequence of 22 amino acids at the C terminus of GAT-2 is required for the transporter's basolateral distribution and is capable of directing GAT-3 to the basolateral surface when appended to the C terminus of this normally apical polypeptide. The deletion of 32 amino acids from the C terminus of GAT-3 causes this transporter to become mislocalized to both surfaces. Moreover, removal of the final three amino acids of GAT-3 (THF) similarly disrupts its apical sorting. The GAT-3 C-terminal sequence resembles motifs which interact with PDZ domains, raising the possibility that the steady state distribution of GAT-3 at the apical plasmalemmal surface requires a protein-protein interaction mediated by its extreme C-terminal cytoplasmic tail. These data provide the first characterization of a protein-based signal required for the apical distribution of a membrane protein.

Amino Acid Sequence↗
PubMed1998

DNA polymerase beta: effects of gapped DNA substrates on dNTP specificity, fidelity, processivity and conformational changes.

Pre-steady-state kinetic analysis was used to compare the catalytic properties of DNA polymerase beta (Pol beta) for single-base gap-filling and regular duplex DNA synthesis. The rate of polymerization (kpol) and the apparent equilibrium dissociation constant of dNTP (Kd) were determined with single-nucleotide gapped DNA substrates for all four possible correct base pairs and twelve possible incorrect base pairs, and the results were compared with those obtained previously with non-gapped primer/template duplex DNA substrates. For correct dNTP incorporation, the use of single-nucleotide gapped DNA led to significant decreases in the Kd of dNTP. Although kpol was little affected, the catalytic efficiency kpol/Kd increased significantly owing to the decreases in Kd. In contrast, for incorrect dNTP incorporation, the use of single-nucleotide gapped DNA substrates did not affect the Kd of dNTP appreciably but caused the kpol (and thus kpol/Kd) for incorrect dNTP incorporation to increase. As a consequence the fidelity of Pol beta was not significantly affected by the use of single-nucleotide gapped DNA substrates. In addition we show that under processive polymerization conditions the processivity of Pol beta increases in the gap-filling synthesis owing to a decreased rate of DNA dissociation. Finally, with a single-nucleotide gapped DNA substrate the rate-limiting conformational change step before chemistry was also observed. However, the preceding fast conformational change observed with duplex DNA substrates was not clearly detected. A possible cause is that in the complex with the gapped DNA, the 8 kDa N-terminal domain of Pol beta already exists in a closed conformation. This interpretation was supported by tryptic digestion experiments.

DNA↗
PubMed1998

Impact of transrenal aortic endograft placement on endovascular graft repair of abdominal aortic aneurysms.

PURPOSE: Successful endovascular repair of an abdominal aortic aneurysm (AAA) requires the creation of a hemostatic seal between the endograft and the underlying aortic wall. A short infrarenal aortic neck may be responsible for incomplete aneurysm exclusion and procedural failure. Sixteen patients who had an endograft positioned completely below the lowest renal artery and 37 patients in whom a porous portion of an endograft attachment system was deliberately placed across the renal arteries were studied to identify if endograft positioning could impact on the occurrence of incomplete aneurysm exclusion. METHODS: Fifty-three patients underwent aortic grafting constructed from a Palmaz balloon expandable stent and an expandable polytetrafluoroethylene (ePTFE) graft implanted in an aorto-ilio-femoral, femoral-femoral configuration. Arteriography, duplex ultrasonography and spiral CT scans were performed in each patient before and after endografting to evaluate for technical success, the presence of endoleaks, and renal artery perfusion. RESULTS: There was no statistically significant difference in patient demography, AAA size, or aortic neck length or diameter between patients who had their endografts placed below or across the renal arteries. However, significantly more proximal aortic endoleaks occurred in those patients with infrarenal endografts (P < or = .05). Median serum creatinine level before and after endografting was not significantly different between the 2 patient subgroups, with the exception of 2 patients who had inadvertent coverage of a single renal orifice by the endograft. Median blood pressure and the requirement for antihypertensive therapy remained the same after transrenal aortic stent grafting. Significant renal artery compromise did not occur after appropriately positioned transrenal stents as shown by means of angiography, CT scanning, and duplex ultrasound scan. Mean follow-up time was 10.3 months (range, 3 to 18 months). Patients who had significant renal artery stenosis (> or =50%) before aortic endografting did not show progression of renal artery stenosis after trans-renal endografting. Two patients with transrenal aortic stent grafts had inadvertent coverage of 1 renal artery by the endograft because of device malpositioning, which resulted in nondialysis dependent renal insufficiency. In addition, evidence of segmental renal artery infarction (<20% of the kidney), which did not result in an apparent change in renal function, was shown by means of follow-up CT scans in 2 patients with transrenal endografts. CONCLUSION: Transrenal aortic endograft fixation using a balloon expandable device in patients with AAAs can result in a significant reduction in the risk of proximal endoleaks. Absolute attention to precise device positioning, coupled with the use of detailed imaging techniques, should reduce the risk of inadvertent renal artery occlusion from malpositioning. Long-term follow-up is essential to determine if there will be late sequelae of transrenal fixation of endografts, which could adversely effect renal perfusion.

Aged↗
PubMed1998

The effects of 2% lidocaine with 1:100,000 epinephrine on pulpal and gingival blood flow.

OBJECTIVE: The dental pulp is a low-compliance system that is particularly vulnerable to physiologic changes. Prolonged vasoconstriction may have detrimental effects. This goal of this study was to determine whether 2% lidocaine with 1:100,000 epinephrine, as used for buccal infiltration, decreases the blood flow in the dental pulp and adjacent gingival tissue. STUDY DESIGN: The Periflux PF3 laser Doppler monitored pulpal and gingival blood flow before and after injection with local anesthetic. Ten human volunteers with at least one healthy and unrestored maxillary premolar were used in this study. RESULTS: After injection of 0.9 ml of 2% lidocaine with epinephrine, there was a significant reduction from baseline values (p > 0.05) in both pulpal (73%) and gingival (51%) blood flow rate in all volunteers. Blood flow had not returned to baseline values after 1 hour. CONCLUSION: This study showed that 2% lidocaine with 1:100,000 epinephrine significantly reduced blood flow pulpally and gingivally. Pulpal blood flow reduction was more than gingival blood flow reduction, which may be critical for compromised pulps with already reduced blood flow. The gingival effects may be of relevance with soft tissue procedures.

Adult↗
PubMed1998

Aortoiliac aneurysms: endoluminal repair--clinical evidence for a fully supported stent-graft.

PURPOSE: To evaluate aortoiliac aneurysms repaired with endovascular stent-grafts complicated by hemodynamically significant graft stenosis. MATERIALS AND METHODS: Fifty-four patients (52 men, two women; age range, 41-90 years; mean age, 75 years) with aneurysms of the infrarenal aorta (n = 36) or iliac artery (n = 18) underwent repair by means of placement of an endovascular stent-graft. Technical success was evaluated angiographically during and after placement. At follow-up (range, 12-44 months), all patients underwent sequential duplex ultrasonography, helical computed tomography, and physical examination. RESULTS: Stent-grafts were placed successfully in all cases. Stenosis at the internal iliac arterial origin was identified at angiography in 17 patients (31%). Supplemental intragraft stents were placed in 11 patients, and stent-graft angioplasty alone was performed in one patient. Intragraft stents were placed percutaneously in five patients when stenosis was discovered during follow-up. CONCLUSION: Supplemental intragraft stents were required in 31% of aortoiliac endovascular stent-grafts to correct stent-graft stenosis and preserve long-term function. Placement of a fully supported stent-graft is necessary to repair an aortoiliac aneurysm.

Adult↗
PubMed1997

DNA polymerase beta: analysis of the contributions of tyrosine-271 and asparagine-279 to substrate specificity and fidelity of DNA replication by pre-steady-state kinetics.

DNA polymerase beta (pol beta) from rat brain, overexpressed in Escherichia coli, was used as a model to study the factors responsible for substrate specificity [kpol, Kd(app) and kpol/Kd(app)] and fidelity during DNA synthesis. The roles of two active-site residues, Asn-279 and Tyr-271, were examined by construction of N279A, N279Q, Y271A, Y271F and Y271S mutants followed by structural analyses by NMR and CD and functional analyses by pre-steady-state kinetics. The results are summarized as follows. (i) None of the two-dimensional NMR spectra of the mutants was significantly perturbed relative to that for wild-type pol beta, suggesting that Tyr-271 and Asn-279 are not important for the global structure of the protein. (ii) CD analyses of guanidinium hydrochloride-induced denaturation showed that all mutants behaved similarly to the wild type in the free energy of denaturation, suggesting that Tyr-271 and Asn-279 are not critical for the conformational stability of pol beta. (iii) The Kd(app) for the correct dNTP was lower than that for the incorrect dNTP by a factor of 10-30 in the case of wild-type pol beta. Upon mutation to give N279A and N279Q, the Kd(app) for the correct dNTP increased by a factor of 15-25. As a consequence, the Kd(app) values for the correct and incorrect nucleotides were similar for N279A and N279Q, suggesting that the main function of the side chain of Asn-279 is in discrimination between the binding of correct and incorrect dNTPs. (iv) In the case of the Y271A mutant, the fidelity and the catalytic efficiency kpol/Kd(app) were little perturbed relative to the wild type. However, both the kpol and Kd(app) values for dNTP were 4-8 times lower in the case of the Y271A mutant than the corresponding values for wild-type pol beta. Since the chemical step may not be rate-limiting for wild-type pol beta, the effect on kpol could be quite significant if it is caused by a perturbation in the chemical step. (v) Pol beta displayed the greatest specificity towards the G:C base pair, which is incorporated during base excision repair of G:U and G:T mispairs. This specificity was slightly enhanced for the Y271F mutant.

Animals↗
PubMed1997

Genomic organization and promoter structure of the human EXT1 gene.

Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of 11 exons, ranging from 90 to 1735 bp, and spans approximately 350 kb of genomic DNA. Sequence analysis of the promoter region revealed the presence of a CpG island containing GC and CAAT boxes, but no TATA box. Such a promoter is characteristic for housekeeping genes. This finding is in good agreement with the ubiquitous expression of the EXT1 gene.

Adult↗
PubMed1997

DNA polymerase beta: structure-fidelity relationship from Pre-steady-state kinetic analyses of all possible correct and incorrect base pairs for wild type and R283A mutant.

The kinetic parameters (kpol, Kd app) for all possible correct and incorrect pairing between the A, T, G, and C bases were determined for wild-type (WT) rat DNA polymerase beta (pol beta) and the R283A mutant under pre-steady-state kinetic assay conditions. The base substitution fidelities of these two proteins were then determined for all 12 possible mispairs representing the first complete fidelity analysis of polymerases using pre-steady-state kinetics. The results led to several significant findings: (i) For both WT and R283A, the fidelity is determined primarily by kpol (decreases for the incorporation of incorrect nucleotides) and to a small extent by Kd app (increases for the incorporation of incorrect nucleotides). (ii) In general, the fidelity for the Y.X (incorporation of dXTP opposite template dYMP) mismatch is different from that for the X.Y mismatch, reflecting the asymmetry of the active site. (iii) The fidelity of R283A is reduced in all 12 mispairs compared to that of WT. The extent of decrease varies from 200-fold for the A.G mispair to 2.5-fold for the T.C mispair. In general, the differences in fidelity between the mutant and WT are greater for purine.purine mismatches (up to 200-fold) than purine.pyrimidine, pyrimidine. purine, or pyrimidine.pyrimidine mismatches (up to 19-fold). (iv) Overall, the decreases in the fidelity of the R283A mutant are caused mainly by changes in the values of kpol; the kpol values of correct incorporations decrease to a greater extent for the R283A mutant with respect to WT than those of incorrect incorporations. With the exception of G.C, the values of Kd app for the WT and R283A mutant remain constant for correct pairings and vary by less than a factor of 4 for incorrect pairings. (v) For WT pol beta, the Kd app of G.C (8.6 microM) is distinctly smaller than that of other correct base pairs (41-108 microM). For the R283A mutant, the kpol of G.C is higher by a factor of 15-17.

Animals↗
PubMed1997

Erroneous pressure measurement due to artificially deformed vessel during angioplasty.

Percutaneous transluminal angioplasty is a commonly performed procedure. The clinical success of such a procedure is determined by the combination of the post-procedure angiographic appearance and the pressure gradient across the lesion. This case demonstrates the importance of recognizing the anatomical variation if proper pressure measurements are to be obtained.

Aged↗
PubMed1997

Identification of novel mutations in the human EXT1 tumor suppressor gene.

Hereditary multiple exostoses (EXT) is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3, respectively. Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene. We have identified six mutations in the human EXT1 gene from six unrelated multiple exostoses families segregating for the EXT gene on chromosome 8. One of the mutations we detected is the same 1-bp deletion in exon 6 that was previously reported in two independent EXT families. The other five mutations, in exons 1, 6, 9, and the splice junction at the 3' end of exon 2, are novel. In each case, the mutation is likely to result in a truncated or nonfunctional EXT1 protein. These results corroborate and extend the previous report of mutations in this gene in two EXT families, and provide additional support for the EXT1 gene as the cause of hereditary multiple exostoses in families showing linkage to chromosome 8.

Alternative Splicing↗
PubMed1997

Retained nephrostomy thread providing a nidus for atypical renal calcification.

Percutaneous nephrostomy (PCN) is a commonly performed procedure. The indications have expanded from merely providing emergency decompression of obstruction to being the initial step of many interventional procedures including percutaneous nephrolithotomy, ureteral stenting dilation and biopsy. Nephrostomy tube design has evolved from a simple trocar to the current self-retaining loop catheters. These catheters contain a suture which, when secured, locks the loop of the catheter in order to prevent accidental removal of the catheter. We present a case where incomplete removal of the locking suture providing the nidus for calcification within the renal pelvis.

Aged↗
PubMed1997

Venographic appearance of portosystemic collateral pathways.

Many imaging modalities can be used to evaluate various portosystemic collateral pathways seen in patients with portal hypertension. A knowledge of various typical and atypical pathways is essential for a proper understanding of the disease process. Transjugular transhepatic portographic appearance of such pathways are discussed in detail.

Collateral Circulation↗