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Biomedical subjects

S Choi

Publications and source records attributed to S Choi.

At least 109 records · Page 6Linked to original sources

Probing Balitsky-Fadin-Kuraev-Lipatov dynamics in the dijet cross section at large rapidity intervals in pp collisions at sqrt[s]=1800 and 630 GeV.

Inclusive dijet production at large pseudorapidity intervals (Deltaeta) between the two jets has been suggested as a regime for observing Balitsky-Fadin-Kuraev-Lipatov (BFKL) dynamics. We have measured the dijet cross section for large Deltaeta in pp collisions at sqrt[s]=1800 and 630 GeV using the D0 detector. The partonic cross section increases strongly with the size of Deltaeta. The observed growth is even stronger than expected on the basis of BFKL resummation in the leading logarithmic approximation. The growth of the partonic cross section can be accommodated with an effective BFKL intercept of alphaBFKL(20 GeV)=1.65+/-0.07.

Journal Article↗

Synthesis, control of substitution pattern and phase transitions of 2,3-di-O-methylcellulose.

An improved heterogeneous procedure has been found for the regioselective introduction of trityl and 4-methoxytrityl groups at the primary positions of cellulose. The 6-O-tritylcelluloses produced were completely methylated by MeI-NaOH in Me2SO solution. The trityl groups were then completely removed to afford 2,3-di-O-methylcellulose without significant degradation of the polymer. 1H and 13C NMR spectroscopy and degradation analysis showed less than 5% deviation from the regular substitution pattern. Under optimum reaction conditions, almost perfectly regular cellulose derivatives could be obtained. Small changes in the substitution pattern had a strong effect on the phase transitions of the O-methylcelluloses in water. It was shown by DSC for the first time that perfect 2,3-di-O-methylcellulose does not undergo phase separation at elevated temperatures.

Magnetic Resonance Spectroscopy↗

Novel "reverse Kahne-type glycosylation": access to O-, N-, and C-linked epipodophyllotoxin conjugates.

[formula: see text] Exposure of epipodophyllotoxin C4-sulfoxides to triflic anhydride, followed by a silyl glycoside, provides a glycoconjugate of the etoposide variety via formal "reverse Kahne glycosylation." To our knowledge, this is the first example of this variant of the Kahne activation method wherein the activating functionality is positioned on the aglycon, rather than on the sugar. Phenols, anilines, or allyl silanes are also efficiently captured at C4, producing the corresponding O-, N-, and C-linked lignan conjugates.

Carbon↗

A new approach for the identification and cloning of genes: the pBACwich system using Cre/lox site-specific recombination.

With current plant transformation methods ( Agrobacterium, biolistics and protoplast fusion), insertion of DNA into the genome occurs randomly and in many instances at multiple sites. Associated position effects, copy number differences and multigene interactions can make gene expression experiments difficult to interpret and plant phenotypes less predictable. An alternative approach to random integration of large DNA fragments into plants is to utilize one of several site-specific recombination (SSR) systems, such as Cre/ lox. Cre has been shown in numerous instances to mediate lox site-specific recombination in animal and plant cells. By incorporating the Cre/ lox SSR system into a bacterial artificial chromosome (BAC) vector, a more precise evaluation of large DNA inserts for genetic complementation should be possible. Site-specific insertion of DNA into predefined sites in the genome may eliminate unwanted 'position effects' caused by the random integration of exogenously introduced DNA. In an effort to make the Cre/ lox system an effective tool for site-directed integration of large DNAs, we constructed and tested a new vector potentially capable of integrating large DNA inserts into plant and fungal genomes. In this study, we present the construction of a new BAC vector, pBACwich, for the system and the use of this vector to demonstrate SSR of large DNA inserts (up to 230 kb) into plant and fungal genomes.

Aspergillus nidulans↗

Enzyme-assisted asymmetric total synthesis of (-)-podophyllotoxin and (-)-picropodophyllin.

Described is the first catalytic, asymmetric synthesis of (-)-podophyllotoxin and its C(2)-epimer, (-)-picropodophyllin. Asymmetry is achieved via the enzymatic desymmetrization of advanced meso diacetate 20, through PPL-mediated ester hydrolysis. A second key feature of the synthesis is the strategically late introduction of the highly oxygenated natural ring E through an arylcopper species. The successful implementation of this approach augers well for the introduction of other functionalized rings E for future SAR work. The synthesis begins from piperonal, which is fashioned into isobenzofuran (IBF) precursor 14 in three steps (bromination, acetalization, and halogen-metal exchange/hydroxymethylation). Interestingly, treatment of 14 with HOAc in commerical dimethyl maleate (contains 5% dimethyl fumarate) leads to a nearly equimolar mixture of fumarate- (15) and maleate-IBF Diels-Alder adducts (16 and 17), indicating that IBF 11 reacts about 15 times faster with dimethyl fumarate than with dimethyl maleate. With scrupulously pure dimethyl maleate a 2.8:1 endo:exo mixture of maleate DA adducts is still obtained. On the other hand, the desired meso diester 16 is obtained pure and in nearly quantitative yield by employing neat dimethyl acetylene dicarboxylate as the dienophile, followed by catalytic hydrogenation. Reduction (LiAlH(4)) of 16 provides meso diol 19, which is then treated with Ac(2)O, BzCl, and PhCH(2)COCl to provide the corresponding meso diesters, 20-22. Screening of these meso benzoxabicyclo[2.2.1]heptyl substrate candidates across a battery of acyl transfer enzymes leads to an optimized match of diacetate 20 with PPL. Even on 10-20 g scales, asymmetry is efficiently introduced here, yielding the key chiral intermediate, monoacetate 25 (66% isolated yield, 83% corrected yield, 95% ee). Protecting group manipulation and oxidation (Swern) provide aldehyde 27b, which undergoes efficient retro-Michael ring opening to produce dihydronaphthalene 30, in which the C(3) and C(4) stereocenters are properly set. Following several unsuccessful approaches to the intramolecular delivery of ring E (via Claisen rearrangement, Heck-type cyclization, or radical cyclization), a highly diastereoselective, intermolecular conjugate addition of the arylcopper reagent derived from (3,4,5-trimethoxy)phenylmagnesium bromide and CuCN to acyl oxazolidinone 50 was developed (85% yield, only the required alpha-stereochemistry at C(1) is observed). The conjugate addition product is converted to (-)-picropodophyllin in two steps (lactonization, SEM deprotection) or to (-)-podophyllotoxin, in three steps, through the introduction of a C(2)-epimerization step, under Kende conditions, prior to the final conjugate addition.

Enzymes↗

Stroke in octogenarians undergoing coronary artery surgery with and without cardiopulmonary bypass.

BACKGROUND: Myocardial revascularization in elderly patients is associated with a morbidity and a mortality substantially higher than those observed in younger patients. The aim of this study was to analyze the potential benefits of coronary artery bypass grafting without cardiopulmonary bypass (CPB) for octogenarians. METHODS: Of 269 octogenarians who underwent coronary artery bypass grafting at our institution between January 1995 and May 1999, 172 had the operation with CPB (CPB group) and 97, without CPB (off-pump group). Revascularization of the circumflex system or right coronary artery were not considered contraindications to off-pump grafting. Demographic data, preoperative risk factors, comorbid conditions, angiographic findings, postoperative complications, and outcomes were compared. RESULTS: The groups were comparable for age, sex, Canadian Cardiovascular Society class, operative priority (elective, urgent, or emergent), preoperative risk factors, and left ventricular ejection fraction. A significantly higher proportion of reoperations was observed in the off-pump cohort (16 of 97, 16.5%) compared with the CPB cohort (8 of 172, 4.7%) (p = 0.002). There was a trend toward a higher graft-patient ratio in the CPB group (3.3 versus 1.8; p = not significant). Freedom from postoperative complications was significantly higher in the off-pump group than in the CPB group (83 of 97, 85.6%, versus 129 of 172, 75%; p = 0.04). The incidence of stroke was 0% in the off-pump cohort compared with 9.3% (16 of 172) in the CPB cohort (p < 0.0005). Although there was a trend toward higher 30-day and risk-adjusted mortality rates in the off-pump group than in the CPB group (10.3% versus 5.2% and 2.8% versus 1.8%, respectively), the differences were not significant. The length of hospitalization was slightly lower in the off-pump group (9.1 versus 10.8 days; p = not significant). CONCLUSIONS: This investigation suggests that patients 80 years of age and older undergoing off-pump coronary artery bypass grafting can experience significantly lower rates of perioperative stroke and overall complications compared with those undergoing the same procedure with CPB, although a trend toward higher mortality rates was observed in the off-pump group.

Age Factors↗

Survey of resident training in beating heart operations.

BACKGROUND: "Off-pump" coronary artery operations are done with increasing frequency in the treatment of coronary artery disease. As a result, residents in thoracic surgery have been confronted with the necessity of gaining experience in this innovative approach to coronary surgery. The aim of this study was to assess the importance of training in minimally invasive coronary revascularization as it was perceived by thoracic surgery residents. METHODS: A postal, multiple-choice survey questionnaire was sent to all cardiothoracic surgery residents (n = 327) of accredited training programs in the United States. Responses were tabulated and analyzed. RESULTS: The overall response rate was 68% (222 of 327 residents). The attending staff was very interested (37%), or had some interest (63%), in beating heart coronary revascularization. Ninety-eight percent of the programs had at least one surgeon performing off-pump procedures. Although 88% of the responding residents showed some interest in off-pump coronary operations, only 22% of them had performed more than 20 off-pump cases, and even less (12%) had performed more than 20 cases of off-pump complete revascularization, or off-pump circumflex revascularization (4%). Sixteen percent of them had no clinical experience with these techniques. Regarding career intentions, 88% of the residents indicated that off-pump coronary operations were expected to be part of the practice, and 58% of them were interested in pursuing additional training in less invasive heart procedures. CONCLUSIONS: The results of this survey suggest that training in off-pump coronary revascularization is variable across training programs, and that the majority of residents may not reach proficiency in coronary procedures on the beating heart during their residency. This may adversely affect their future expectations, as 88% of them would like to practice off-pump coronary surgery once the training is completed.

Cardiopulmonary Bypass↗

Stress, coping, and depression in non-ulcer dyspepsia patients.

Thirty adults with upper gastrointestinal symptoms in the absence of structural organic disease diagnosed with non-ulcer dyspepsia (NUD) were compared to 30 healthy adults who had visited the hepatobiliary clinic for medical evaluation of non-organic complaints without NUD. Medical investigation in both groups were negative. Before independent gastrointestinal physicians conducted diagnostic evaluations, all subjects were evaluated for anxiety and depressive symptoms, stressful life events, coping style, and social support. The measures included Symptom Checklist 90-Revised (SCL-90-R), Beck Depression Inventory (BDI), Spielberger State-Trait Anxiety Inventory (STAI), Ways of Coping Checklist, and Interpersonal Support Evaluation List, and a self-report questionnaire, which measured the quantity of perceived stressful life events. The NUD patients reported significantly more symptoms of depression, more perceived stressful life events, less problem-focused coping, and less social support than the control subjects. Depressive symptoms were negatively correlated with interpersonal support, whereas, problem-focused coping was positively correlated with interpersonal support in the NUD patients. The two groups did not differ significantly in terms of anxiety and emotion-focused coping. The implications of these findings for the diagnosis and treatment of NUD are discussed.

Adaptation, Psychological↗

Predictive values of waist circumference for dyslipidemia, type 2 diabetes and hypertension in overweight White, Black, and Hispanic American adults.

Waist circumferences (WC) >/=102 cm for men and >/=88 cm for women have been proposed by an expert panel as cut-points for identifying increased risk for the development of obesity comorbidities for most adults. The aim of this investigation was to examine the predictive values of these WC cut-points for hypercholesterolemia, low concentration of high (HDL-C), and high concentration of low (LDL-C) density lipoprotein cholesterol, hypertriglyceridemia, type 2 diabetes, and hypertension in overweight American adults. Data from NHANES III were utilized for the analysis. Predictive abilities were determined by calculating sensitivity, specificity, positive (PV+) and negative (PV-) predictive values in overweight subjects with BMI 25-29.9 kg/m(2). Sensitivity of WC cut-point was stronger for high LDL-C compared to other risk factors with the highest values recorded in the 40-59 and 60-69 year age groups in men and women, respectively. PV+ of WC cut-points for dyslipidemia, type 2 diabetes, and hypertension were low in men compared to women. PV+ tended to increase with age, from 19-39, 40-59 to 60-90 year age groups in Whites, Blacks, and Hispanic men. In men, the highest PV+ were recorded for hypertriglyceridemia in the 60-90 years old groups, with values of 71.6%, 52.5%, and 43.3% in Whites, Blacks, and Hispanics, respectively. The CVD risk factor associated with the highest PV+ in women was diabetes with values of 97.2% in Whites and 88.9% in Blacks, and hypertriglyceridemia with a value of 93.8% in the 17-39 year age group in Hispanics. Among Black men 40-59 years of age, only 32% of a population of overweight hypertensives were detected by the WC cut-points, and among Black women, 40-59 years of age, only 54% were detected. Given the low sensitivity of these cut-points for detecting hypertension, one of the major co-morbidities of obesity, these cut-points failed to provide adequate evidence for the use of WC in determining or evaluating patients as to co-morbid states. We recommend further studies to determine a set of specific cut-points associated with increased risk of CVD in different population groups.

Adolescent↗

A novel serotonin transporter ligand: (5-iodo-2-(2-dimethylaminomethylphenoxy)-benzyl alcohol.

The serotonin transporters (SERT) are the primary binding sites for selective serotonin reuptake inhibitors, commonly used antidepressants such as fluoxetine, sertraline, and paroxetine. Imaging of SERT with positron emission tomography and single photon emission computed tomography in humans would provide a useful tool for understanding how alterations of this system are related to depressive illnesses and other psychiatric disorders. In this article the synthesis and characterization of [(125)I]ODAM [(5-iodo-2-(2-dimethylaminomethylphenoxy)-benzyl alcohol, 9)] as an imaging agent in the evaluation of central nervous system SERT are reported. A new reaction scheme was developed for the preparation of compound 9, ODAM, and the corresponding tri-n-butyltin derivative 10. Upon reacting 10 with hydrogen peroxide and sodium[(125)I]iodide, the radiolabeled [(125)95%). In an initial binding study using cortical membrane homogenates of rat brain, ODAM displayed a good binding affinity with a value of K(i) = 2.8 +/- 0.88 nM. Using LLC-PK(1) cells specifically expressing the individual transporter (i.e. dopamine [DAT], norepinephrine [NET], and SERT, respectively), ODAM showed a strong inhibition on SERT (K(i) = 0.12 +/- 0.02 nM). Inhibition constants for the other two transporters were lower (K(i) = 3.9 +/- 0.7 microM and 20.0 +/- 1.9 nM for DAT and NET, respectively). Initial biodistribution study in rats after an intravenous (IV) injection of [(125)I]ODAM showed a rapid brain uptake and washout (2.03, 1.49, 0.79, 0.27, and 0.07% dose/organ at 2, 30, 60, 120, and 240 min, respectively). The hypothalamus region where the serotonin neurons are located exhibited a high specific uptake. Ratios of hypothalamus-cerebellum/cerebellum based on percent dose per gram of these two regions showed values of 0.35, 0. 86, 0.86, 0.63, and 0.34 at 2, 30, 60, 120, and 240 min, post-IV injection, respectively. The specific uptake in hypothalamus can be effectively blocked by pretreatment of known SERT ligands. The results suggest that this novel ligand displays desirable in vitro and in vivo properties as a potential SERT imaging agent.

Animals↗

Caregiver input in English and Korean: use of nouns and verbs in book-reading and toy-play contexts.

This study investigates structural and pragmatic aspects of caregiver input in English and Korean that relate to the early development of nouns and verbs. Twenty mothers in each language were asked to interact with their one-and-a-half-year-old children in two contexts: book-reading and toy-play. Overall, English-speaking mothers use more nouns than verbs, and focus more on objects than on actions. In contrast, Korean-speaking mothers provide a balanced treatment of nouns and verbs, and focus on objects and actions to a similar degree. A significant context effect indicates that whereas English-speaking mothers emphasize nouns in both contexts, Korean-speaking mothers do so only in the Books context. In the Toys context, they provide more verbs and focus more on actions. These data suggest that systematic comparisons of caregiver input within and across different contexts provide a richer and more accurate account of the variability that can occur across languages and cultures.

Caregivers↗

Activated leukocyte cell adhesion molecule (ALCAM) and annexin II are involved in the metastatic progression of tumor cells after chemotherapy with Adriamycin.

Metastasis frequently occurs during and/or after chemotherapy resulting in failure. This suggests that inadequate chemotherapy promotes the emergence of more malignant tumor cells with metastatic potential. However, it is not determined how chemotherapy could promote the metastatic progression of tumor cells. In this study, we isolated highly metastatic clones from the tumors treated with ADR using an in vivo experimental model, in which non-metastatic tumor cells were inoculated s.c. in mice, treated with or without Adriamycin and then culture lines were re-established from the tumors. Then we isolated cDNAs for activated leukocyte cell adhesion molecule (ALCAM), osteopontin, and annexin II as candidates for metastasis-promoting genes with the use of a PCR-based subtraction method. Further we examined the metastatic potential of transfectants over-expressing ALCAM, osteopontin, or annexin II and combinations of them. Metastasis to the lung was observed in the mice where transfectants over-expressing ALCAM plus annexin II had been inoculated via tail vein. These results suggest that the over-expression of ALCAM and annexin II play a role in the metastatic progression after chemotherapy with ADR.

Activated-Leukocyte Cell Adhesion Molecule↗

Postfusional regulation of cleft glutamate concentration during LTP at 'silent synapses'.

'Silent synapses' show responses from high-affinity NMDA receptors (NMDARs) but not low-affinity AMPA receptors (AMPARs), but gain AMPAR responses upon long-term potentiation (LTP). Using the rapidly reversible NMDAR antagonist l-AP5 to assess cleft glutamate concentration ([glu]cleft), we found that it peaked at <<170 microM at silent neonatal synapses, but greatly increased after potentiation. Cyclothiazide (CTZ), a potentiator of AMPAR, revealed slowly rising AMPA EPSCs at silent synapses; LTP shortened their rise times. Thus, LTP at silent synapses increased rate-of-rise and peak amplitude of [glu]cleft. Release probability reported by NMDARs remained unchanged during LTP, implying that [glu]cleft increases arose from immediately presynaptic terminals. Our data suggest that changes in the dynamics of fusion-pore opening contribute to LTP.

2-Amino-5-phosphonovalerate↗

Abdominal adiposity values associated with established body mass indexes in white, black and hispanic Americans. A study from the Third National Health and Nutrition Examination Survey.

PURPOSE: To determine whether white, black and hispanic young (17-39y) and middle-aged (40-59y) adults, and elderly (60-90y) Americans have the same values of abdominal adiposity (estimated from waist circumference (WC) at the established levels of overweight (body mass index, BMI 25-29.9 kg/m2) and obesity (BMI > or = 30 kg/m2). METHODS: Data (n=16,120) from the US Third National Health and Nutrition Survey were utilized. Age-adjusted linear regression analyses were used to estimate gender- and ethnic-specific WC values corresponding to overweight and obesity. Receiver operating characteristic (ROC) curves were also employed to determine the choices of WC values corresponding to the established BMI cut-off points. With ROC, gender- and ethnic-specific cut-off points producing the best combination of sensitivity and specificity were selected as optimal thresholds for WC values corresponding to the established BMI cut-off points. RESULTS: WC values associated with the established BMI were lower in blacks and hispanics compared with whites. In men, the WC values that corresponded to overweight ranged from 89 to 106 cm, from 84 to 95 cm, and from 87 to 97 cm in whites, blacks and hispanics, respectively. The corresponding values for obesity ranged from 99 to 110 cm, from 96 to 107 cm, and from 97 to 108 cm. The WC values that corresponded to overweight in women ranged from 82 to 91 cm, from 81 in to 90 cm, and from 83 to 92 cm in whites, blacks and hispanics, respectively. The analogous values for obesity ranged from 94 to 101 cm, from 93 to 100cm, and from 94 to 101 cm. CONCLUSIONS: The lack of higher WC values in blacks (particularly women) and hispanics at the same levels of BMI for whites challenges previously held assumptions regarding the role of abdominal adiposity in cardiovascular disease experienced by non-whites. Defining the anthropometric variables that satisfactorily describe reasons for ethnic differences in cardiovascular disease is one of the challenges for future research.

Abdomen↗

Which derivative from overnight oximetry best predicts symptomatic response to nasal continuous positive airway pressure in patients with obstructive sleep apnoea?

The cost and inconvenience of polysomnography for the investigation of obstructive sleep apnoea (OSA) has led to the search for simpler and cheaper alternatives. These are usually compared to an apnoea/hypopnoea index (AHI) derived from oro-nasal airflow and ribcage/abdominal effort sensors. However, AHI is not a proven gold standard for the identification of clinically important OSA. Recent work has shown that correctly analysed oximetry indices not only mimic AHI with considerable accuracy, but also predict the symptomatic response to nasal continuous positive airway pressure (nCPAP) at least as well as conventional polysomnographic indices. This current study looks at 10 different derivatives of all-night oximeter tracings in 81 patients with OSA, and compares their ability to predict the improvement in subjective sleepiness after 6 months of nCPAP therapy. Sleep apnoea in this study was defined as a > 4% SaO2 dip rate of > 10 h(-1), and an Epworth sleepiness score (ESS) of > 10 on presentation. Subjects took part in a placebo-controlled trial of nCPAP for 1 month and thereafter were all supplied with nCPAP set at an effective pressure. All night SaO2 was sampled every 2 sec and later analysed for mean, median, mean nadir of SaO2 dip, time below 90%, 2 and 12 sec delta index (an average measure of SaO2 change across these two time periods), rapid resaturation index (rises in SaO2 > 3% within 10 sec per hour), and > 4, > 3, and > 2% dips per hour. These indices were then correlated with the change in ESS seen after 6 months on nCPAP. Median compliance for the group was 5.8 (5/95% range, 1.5-8.0) h night(-1). The two best correlates of improvement in ESS were the > 4% SaO2 dips h(-1) (Spearman's r = -0.33 P=0.002) and the delta 12 sec index (r = -0.33, P = 0.003). Cumulative time below 90% SaO2 was almost as good (r = -0.29, P = 0.009). The worst correlate was the > 2% SaO2 dips h(-1) (r = 0.01, not significant). This study has identified which of several analyses of overnight oximeter recordings best identify nCPAP responsive OSA. Both > 4% SaO2 dips and 12 sec delta index are equally predictive and presumably the most appropriate derivatives to calculate from overnight records of SaO2.

Adult↗

The Kyonggi Shear Zone of the Central Korean Peninsula: Late Orogenic Imprint of the North and South China Collision.

The crustal-scale Kyonggi shear zone of central Korea has been identified as a major boundary between the Precambrian Kyonggi massif in the south and the Imjingang belt in the north. The latter is an eastward extension of the Qinling-Dabie-Sulu collisional belt of China. Field observations and microstructural analysis indicate that the extensional shear zone evolved from a deep crustal ductile regime to a shallow crustal brittle regime, associated with a rapid uplift of the Kyonggi massif following the Late Permian-Early Triassic collision between the Sino-Korean and Yangtze cratons. A Rb-Sr muscovite age (226+/-1.2 Ma) of the mylonite suggests that the extensional ductile shearing occurred during the Late Triassic.

Journal Article↗

Genomic structure and promoter analysis of the mouse EphA8 receptor tyrosine kinase gene.

The gene encoding the mouse EphA8 receptor tyrosine kinase has been isolated from a mouse genomic library, and its complete genomic structure has been determined. This gene spans approximately 28 kb and consists of 17 exons. This gene structure is similar to the structure of the chick EphB2 (Cek5) gene, except for one intron present between the first two exons encoding the EphA8 kinase domain. This difference may reflect an evolutionary divergence of the catalytic domain between EphA and EphB subgroup receptors. The site for transcription initiation has been mapped to the 19th nucleotide upstream from the translation start codon ATG. A feature of this gene is an unmethylated CpG island spanning exon 1 and the flanking sequence. The putative promoter of the EphA8 gene lacks a TATA box and contains multiple copies of the sequence GGGCGG, the core sequence of the putative Sp1-binding site. The 3.5-kb upstream genomic region containing part of the first exon showed strong promoter activity in NG108-15 neuroblastoma cells but much less in 293T cells, suggesting that this fragment is sufficient for neural cell-directed promoter activity. By deleting the genomic region containing the five GC boxes, it was shown that the minimal promoter region is primarily comprised of five copies of the Sp1-binding site located upstream from the transcription initiation site. Finally, in situ RNA hybridization studies revealed a very specific pattern of EphA8 gene expression restricted to the rostral region of midbrain tectum during embryonic development. Isolation of a functional promoter for the EphA8 gene is a first step in understanding how expression of this gene is controlled at the molecular level.

Amino Acid Sequence↗

Long-term outcome of terminal myelocystocele patients.

INTRODUCTION: A terminal myelocystocele, a closed form of a neural tube defect (NTD), can present as a large, fully epithelialized, cystic lumbosacral mass containing fat, cerebrospinal fluid (CSF) and neural tissue. The spinal cord terminates at a neural placode wherein the central canal opens into a CSF-filled cavity that is distinct from fluid in the subarachnoid space surrounding the spinal cord. This form of NTD, in our experience, was only associated with major caudal cell mass abnormalities, as these patients often have maldevelopment of the lower spine, pelvis, genitalia, bowel, bladder, kidney and the abdominal wall. This study will describe the clinical manifestations, surgical management and long-term outcome of our terminal myelocystocele patients. METHODS: To characterize this rare entity, a 13-year retrospective review was undertaken at our institution. RESULTS: Nine patients with terminal myelocystoceles were identified. In all cases, there were multiple congenital defects including cloacal exstrophy, imperforate anus, omphalocele, pelvic deformity, equinovarus or renal abnormality. Only 1 out of 9 patients has required a shunt for hydrocephalus. The main goal of neurosurgical intervention was to reduce the size of the mass, which can slowly enlarge over time. The spinal cord was also untethered, although these patients have no chance of bowel or bladder control. With a mean follow-up of 63 months, all patients remained neurologically stable. Impairment of lower extremity function is usually severe. However, some patients were ambulatory with the aid of a walker or orthotic device. All patients required a prolonged hospital stay as well as multiple operations prior to initial discharge. CONCLUSION: Experienced, multispecialty care is needed to optimize the long-term outcome of these complex patients.

Child↗