bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intermittent and Mobile Surgical Services: Logistics and Outcomes
Authors: Rodas Edgar , Vicuña Anita , Merrell Ronald C. 
Published: September 2005

AbstractA program of intermittent surgical services utilized a mobile facility to support multiple primary care sites in Ecuador. The fiscal and clinical outcomes of the program were analyzed. From 1994 to 2003 the mobile program responded to requests from 15 of 22 provinces of Ecuador for surgical care. The sites served could not offer permanent surgical care. Criteria for inclusion and follow‐up were set. Medical records were kept in accordance with standards of the Ministry of Health. Standards of care and critical care pathways were instituted. The program had a permanent staff supplemented by volunteers. Cases were recorded and outcomes noted with respect to complications. The cost of the surgical aspect of the program was entirely covered by a foundation through donations and public service contracts. Financial records of the foundation were reviewed and the costs analyzed. A total of 4545 operations were done largely in general surgery specialties. The program made 40 to 50 excursions each year and proved to be a stable element of medical care delivery. There were no deaths, four major complications, and three minor complications. The cost per operation was less than $100. Comparison to U.S. and international volunteer organizations are reported. This program of intermittent mobile surgical services in coordination with fixed primary care constitutes a sustainable, high quality clinical program fully integrated into existing care of a national health ministry. In‐country resources may provide greatly enhanced services at low cost and should be considered as an alternative.
The Case Against Volume as a Measure of Quality of Surgical Care
Authors: Khuri Shukri F. , Henderson William G. 
Published: September 2005

AbstractHealthcare purchasers, represented by the Leapfrog Group, have attempted to set standards for “quality” of surgical care that include a minimum volume for each of five major surgical procedures, with the assumption that higher volumes in surgery bring better outcomes. The VA National Surgical Quality Improvement Program (NSQIP) is a validated, outcome‐based program that prospectively collects clinical data on all major surgical operations in the VA, and builds validated risk‐adjustment models that generate, for each hospital and each surgical specialty within a hospital, risk‐adjusted outcomes expressed as O/E (observed to expected) ratios for 30‐day mortality and morbidity. The O/E ratio has been validated as a reliable comparative measure of the quality of surgical care. Unlike retrospective studies that are based on administrative databases, NSQIP studies have failed to demonstrate a direct relationship between volume and risk‐adjusted outcomes of surgery across various specialties. These studies have emphasized that the quality of systems of care was more important than volume in determining the overall quality of surgical care at an institution. High‐volume hospitals could still deliver poor care in as much as low‐volume hospitals could deliver good care. NSQIP studies have also underscored the major limitations of claims data and administrative databases in the provision of adequate risk‐adjustment models that are crucial for volume–outcome studies. Therefore, volume should not be substituted for prospectively monitored and properly risk‐adjusted outcomes as a comparative measure of the quality of surgical care.
Fumarase deficiency presenting with periventricular cysts
Authors: Loeffen J. , Smeets R. , Voit T. , Hoffmann G. , Smeitink J. 
Published: September 2005

SummaryA fumarase‐deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase‐deficient patients.
Successful prenatal molecular diagnosis of carbamyl‐phosphate synthetase I deficiency in two at‐risk pregnancies
Authors: Funghini S. , Morrone A. , Pasquini E. , Zammarchi E. , Donati M. A. 
Published: September 2005

SummaryWe report the two first prenatal diagnoses in an Italian family with a proband affected by neonatal carbamyl‐phosphate synthetase I deficiency in which molecular analysis identified V457G and Q810R amino acid substitutions. We performed a prenatal diagnosis on genomic DNA isolated from chorionic villus and amniotic fluid samples collected at 13 weeks of gestation. In the first pregnacy, the fetus was compound heterozygous for the mutations and termination of pregnancy was elected. The genetic lesions were also confirmed on genomic DNA isolated from the fetus's liver and skin fibroblasts. A few months later, we performed a second prenatal diagnosis in this family. The second fetus was heterozygous for the wild‐type alleles. The pregnancy was continued and a girl was born at 41 weeks of gestation. We have confirmed the wild‐type state on the baby's DNA.
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine‐deficient rats
Authors: Plecko B. , Hoeger H. , Jakobs C. , Struys E. , Stromberger C. , Leschnik M. , Muehl A. , Stoeckler‐Ipsiroglu S. 
Published: September 2005

SummaryElevated concentrations of pipecolic acid have been reported in plasma and CSF of patients with pyridoxine‐dependent epilepsy, but its molecular background is unclear. To investigate any further association of pyridoxine and pipecolic acid metabolism, we have performed an animal trial and have measured the concentration of pipecolic acid in brain tissue of rats with nutritional pyridoxine deficiency and in control littermates. Concentrations of pyridoxal phosphate were significantly reduced in brain tissue of pyridoxine‐deficient rats (p < 0.001), while concentrations of pipecolic acid were not significantly different from the normally nourished control group (p = 0.3). These data indicate that a direct association of pyridoxine and pipecolic acid metabolism is unlikely. We therefore assume that the characteristic elevation of pipecolic acid in pyridoxine‐dependent epilepsy could rather be a secondary phenomenon with the primary defect of pyridoxine‐dependent epilepsy being located outside the pipecolic acid pathway.
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl‐phosphate synthetase‐1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia
Authors: Ihara K. , Miyako K. , Ishimura M. , Kuromaru R. , Wang H.‐Y. , Yasuda K. , Hara T. 
Published: September 2005

SummaryWe report a patient who was first diagnosed as having congenital carbamoyl‐phosphate synthetase‐1 (CPS‐1) deficiency on the basis of significantly low CPS‐1 activity in the liver at 1 year of age. We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed theGLUD1gene and found a previously reported gain‐of‐function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This case demonstrates that low CPS‐1 activity in liver, however significant it might be, does not always come from a primary CPS‐1 deficiency and that we have to take into consideration the possibility of a secondary CPS‐1 deficiency, such as HI/HA syndrome.
Clinical evaluation of a portable lactate meter in type I glycogen storage disease
Authors: Saunders A. C. , Feldman H. A. , Correia C. E. , Weinstein D. A. 
Published: September 2005

SummaryHigh lactate concentrations occur in type I glycogen storage disease (GSD) whenever glycogenolysis occurs. Not only does hyperlactataemia cause acute clinical deterioration, but chronic lactate elevations have also been associated with many of the long‐term complications in GSD. A portable finger‐stick blood lactate meter has recently been marketed as a training tool for high‐performance athletes, but it has not been tested as a clinical diagnostic tool. This study was performed to assess the accuracy of the portable lactate meter in subjects with GSD I who are predisposed to high lactate concentrations. A total of 166 intravenous and 39 capillary samples from 13 subjects were tested concomitantly on three different lactate meters. The meter readings were compared with the lactate concentration determined by the laboratory gold‐standard enzymatic colorimetric assay. Almost no inter‐meter variability was found. The lactate meter values had outstanding correlation with the laboratory lactate determination, although the meters were found to run 0.5 mmol/L higher than the laboratory assay. The meter deviation was independent of lactate concentration. More variability was noted with finger‐stick capillary lactate determinations, but monitoring of trends with capillary samples should prove valuable as a method for determining long‐term control or acute deterioration. The portable lactate meter is a highly accurate tool for monitoring lactate concentrations, and should prove valuable for monitoring metabolic control in patients with GSD type I and other disorders associated with hyperlactataemia.
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
Authors: Beesley C. E. , Jackson M. , Young E. P. , Vellodi A. , Winchester B. G. 
Published: September 2005

SummarySanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme α‐N‐acetylglucosaminidase (NAGLU). NAGLU is involved in the degradation of the glycosaminoglycan (GAG) heparan sulphate, and a deficiency results in the accumulation of partially degraded GAGs inside lysosomes. Early clinical symptoms include hyperactivity, aggressiveness and delayed development, followed by progressive mental deterioration, although there are a small number of late‐onset attenuated cases. The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. In total, 34 of the 36 mutant alleles were characterized in this study and 20 different mutations were identified including 8 novel changes (R38W, V77G, 407–410del4, 703delT, A246P, Y335C, 1487delT, E639X). The four novel missense mutations were transiently expressed in Chinese hamster ovary cells and all were shown to decrease the NAGLU activity markedly, although A246P did produce 12.7% residual enzyme activity.
Dihydropyrimidine dehydrogenase deficiency presenting at birth
Authors: Al‐Sanna'a N. A. , Van Kuilenburg A. B. P. , Atrak T. M. , Jabbar M. A. Abdul , Van Gennip A. H. 
Published: September 2005

SummaryDihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a clinically heterogeneous autosomal recessive disorder of pyrimidine metabolism. DPD is the enzyme that catalyses the first and the rate‐limiting step in the catabolism of uracil, thymine and the analogue 5‐fluorouracil. To date, more than 30 patients have been diagnosed with a complete enzyme deficiency. Here, we describe the fifth case with a complete DPD deficiency presenting at birth with severe neurological abnormalities. The patient was homozygous for the common splice‐site mutation IVS14+1G > A.
Adolescent attributes contributing to the imposter phenomenon☆
Authors: Caselman Tonia D. , Self Patricia A. , Self Angela L. 
Published: September 2005

AbstractPersonality traits, self‐perceptions, beliefs, and feelings that accompany the Imposter Phenomenon (IP) have been identified in adults but little research with adolescents has been reported. The present research describes data from a sample of 11th and 12th graders in order to examine predictors of IP among adolescents. The participants completed measures of the IP, global self‐worth, social support and self‐concept. Gender differences were found in correlations between IP and Parent Support, Classmate Support, and Teacher Support. Multiple regression analyses found significant predictors of IP scores for females to be Friend Support, Classmate Support and Dependability. Only Friend Support significantly predicted IP scores for males. The unique variance explained (UVE) by each of the variables was fairly modest, suggesting that the variables are explaining a considerable amount of the same portion of the variance, particularly for females.
Recurrent Pleomorphic Adenoma of the Parotid Gland
Authors: Leonetti John P. , Marzo Sam J. , Petruzzelli Guy J. , Herr Brian 
Published: September 2005

OBJECTIVESTo assess the long‐term results in the management of 42 patients with recurrent pleomorphic adenoma of the parotid gland.STUDY DESIGNA retrospective analysis of 42 patients who underwent parotidectomy for recurrent pleomorphic adenoma was performed to study presenting clinicoradiographic features, surgical technique, facial nerve management, and the long‐term risk of recurrence.RESULTSAll 42 patients had multi‐focal, nontender recurrent nodules following one to four prior surgical procedures and 6 patients underwent prior radiotherapy. Surgical procedures included subtotal parotidectomy in 12 patients, total parotidectomy in 18 patients, parotidectomy with facial nerve resection in 7 cases, and subtotal petrosectomy with facial nerve resection in 5 individuals. The 2 patients with malignant transformation died of disseminated lung and bone metastasis. Twenty‐nine of the remaining 40 patients had no recurrent disease. Seven patients developed local parotid bed or cutaneous recurrent disease, 2 patients died of unrelated causes, and 2 patients were lost to follow‐up.CONCLUSIONSAll 7 patients with recurrent disease underwent subtotal parotidectomy with “negative” surgical margins. Total parotidectomy or subtotal petrosectomy with facial nerve resection in selected cases may reduce the risk of multiple episodes of pleomorphic adenoma recurrence. Two of 42 patients were found to have carcinoma ex‐pleomorphic adenoma, both of these patients underwent prior radiotherapy, and both died of metastatic disease.
Effects of Tracheostomy on Well‐being and Body‐Image Perceptions
Authors: Gilony Dror , Gilboa Dalia , Blumstein Tzvia , Murad Havi , Talmi Yoav P. , Kronenberg Jona , Wolf Michael 
Published: September 2005

OBJECTIVEQuality of life after tracheostomy was addressed by measuring its impact on well being and body image perceptions.STUDY DESIGN AND SETTINGA controlled study in a laryngotracheal clinic of a tertiary referral center. Three groups were studied: 24 cannulated, 19 decannulated, and 20 noncannulated patients. They filled up 3 conventional questionnaires.RESULTS(1) Satisfaction‐with‐life scale: reduced scores were detected between cannulated and noncannulated patients. (2) Personality traits: neuroticism and extroversion: no differences were noted. (3) Body cathexis scale: both cannulated and decannulated patients scored less than noncannulated. In tracheostomy‐specific issues, decannulated patients scored better than cannulated patients.CONCLUSIONSReduced scores after tracheostomy indicate an overall diminished quality of life. These changes correlate with personality traits. Decannulated patients exhibited only slight improvement indicating an incomplete psychosocial recovery.SIGNIFICANCEThis is the first report on tracheostomy related quality of life in noncancer patients conducted with specific psychological questionnaires.
Unilateral Profound Hearing Loss and the Effect on Quality of Life After Cerebellopontine Angle Surgery
Authors: Subramaniam Kavitha , Eikelboom Robert H. , Eager Katrise M. , Atlas Marcus D. 
Published: September 2005

OBJECTIVETo assess patients’ quality of life after cerebellopontine angle surgery, and in particular, quality of life related to unilateral profound hearing loss.STUDY DESIGN AND SETTINGCross‐sectional in a tertiary referral center. Quality of life of 51 postoperative patients was assessed by using the Glasgow Benefit Inventory (GBI). Thirty patients with unilateral profound hearing loss who had undergone the translabyrinthine approach completed a subsequent quality‐of‐life questionnaire on speech discrimination and sound localization.RESULTSNinety‐four percent of respondents to the 2nd survey reported difficulties with speech discrimination, and 97%, with sound localization. The general health and overall GBI indices correlated significantly (P>0.01) with a number of speech and localization difficulties.CONCLUSIONUnilateral profound hearing loss may be a significant factor in a change in quality of life after cerebellopontine angle surgery.SIGNIFICANCERehabilitation devices that improve discrimination and localization, and hearing preservation surgery, if indicated, should be considered for these patients.
Effects of Intratympanic Injection of Latanoprost in Meniere's Disease: A Randomized, Placebo‐Controlled, Double‐Blind, Pilot Study
Authors: Rask‐Andersen Helge , Friberg Ulla , Johansson Marianne , Stjernschantz Johan 
Published: September 2005

OBJECTIVETo determine the short‐term effects of latanoprost, a selective FP prostanoid receptor agonist, in Meniere's disease.STUDY DESIGN AND METHODSLatanoprost was administered by intratympanic injection once daily for 3 days. Before the first injection (day 1) and on days 5 and 15, hearing and tinnitus were determined. The patients assessed vertigo on a visual analogue scale on days 1‐15. The study was randomized, doubleblind, and placebo‐controlled.RESULTSLatanoprost reduced vertigo/dysequilibrium around 30% (P >0.05), and improved speech discrimination around 15% (P >0.05). Tinnitus loudness deteriorated after injection of placebo (P >0.01) but not after latanoprost. Side effects were few.CONCLUSION AND SIGNIFICANCELatanoprost alleviated vertigo/dysequilibrium and improved hearing. The results indicate that the drug potentially could be useful for treatment of Meniere's disease.
Association of Reflux With Otitis Media in Children
Authors: Lieu Judith E.C. , Muthappan P. Ganesh , Uppaluri Ravindra 
Published: September 2005

OBJECTIVESTo confirm the finding of pepsin/pepsinogen in middle ear fluid of children with chronic or recurrent otitis media (OME or ROM), and to ask parents about symptoms associated with gastroesophageal reflux (GER).METHODSMiddle ear fluid was collected from children undergoing tympanostomy tube placement. We tested this fluid for pepsin/pepsinogen using a proteolytic enzyme assay and an ELISA. Parents completed questionnaires about symptoms of GER in their children.RESULTSWe collected 36 samples from 22 children; 16 of 22 children (73%) were positive with the proteolytic assay; 17 (77%) were positive with ELISA. Questionnaires did not show increased GER symptoms.CONCLUSIONSWe replicated the finding of pepsin/pepsinogen in middle ear fluid of children with OME or ROM, but did not find any increase in GER symptoms. Further research is needed to establish a causative link between GER and OM.
Percutaneous Tracheotomy in Bone Marrow Transplant Patients With Severe Thrombocytopenia
Authors: Gordin Arie , Netzer Aviram , Joachims Henry Zvi , Golz Avishay 
Published: September 2005

OBJECTIVEEvaluation of percutaneous tracheotomy in bone marrow transplant patients with severe thrombocytopenia.DESIGNA retrospective outcome study.PATIENTSA retrospective study of 26 percutaneous tracheotomies was performed at the Bone Marrow Transplant Unit, Rambam Medical Center, Haifa, Israel. Age, sex, underlying disease, reason for intubation, complete blood count, coagulation profile, and the incidence of renal failure were collected. All patients received 6 units of platelets one hour prior to the procedure.RESULTSThe mean platelets count was 14,300 ± 5500. Twenty‐five of the 26 percutaneous tracheotomies were completed successfully, without any intraoperative complications. One patient suffered from moderate bleeding during the procedure, which was immediately stopped and converted to open tracheotomy. In the postoperative period 4 patients suffered from mild bleeding around the stoma, which was managed conservatively. No other late complications were encountered.CONCLUSIONSPercutaneous tracheotomy can be safely performed in patients with severe thrombocytopenia when the surgeon and anesthesiologist are experienced in the procedure, and platelets are given perioperatively.
An ex-vivo experimental study on optimization of bipolar radiofrequency liver ablation using perfusion-cooled electrodes
Authors: Lee J. M. , Han J. K. , Kim S. H. , Lee J. Y. , Shin K. S. , Choi B. I. 
Published: September 2005

Purpose: To determine optimal parameters for bipolar radiofrequency ablation (RFA) using perfusion-cooled electrodes to create a large ablation volume in ex vivo bovine liver. Material and Methods: Three sets of RF experiments were performed using a 200-Watt generator and two 15-gauge perfusion-cooled or internally cooled electrodes in ex vivo bovine livers. In the first set of experiments, to find the ideal inter-electrode distance for creating large coagulation necrosis, 30 ablation lesions were created by bipolar RFAs at inter-electrode spacings of 3 cm, 4 cm, and 5 cm. In the second set of experiments, to explore the ideal duration of RF application, bipolar RFAs were performed for 10 min and 20 min. In the first and second experiments, 10 lesions were made for each condition with infusion of 6% hypertonic saline (HS) at 2 ml/min. In the third set of experiments, 10 ablation lesions were created by bipolar RFAs using internally cooled electrodes without HS infusion. The mean volume of those ablation lesions was then compared to that of the lesions created by bipolar RFA using perfusion-cooled electrodes in the second experiments. Tissue impedance, dimension, and shape of the ablated areas were compared in each condition. Results: In the first set of experiments, bipolar RFA created a homogeneous oval or spherical-shaped ablation area between the electrodes at 3–5 cm spacing, but showed a more spherical-shaped lesion at 3 cm inter-electrode spacing than at 4 cm and 5 cm spacing. In the second set of experiments, RF energy delivered for 20 min created a larger dimension of coagulation necrosis than energy delivered for 10 min: 107.6±34 cm3 versus 59.5±27 cm3 ( P<0.05). In addition, the mean volume of ablation regions obtained with bipolar RFA using the internally cooled electrode was 47.5±17 cm3, which was significantly less than that with bipolar RFA using perfusion-cooled electrodes ( P<0.05). Conclusion: Bipolar RFA using perfusion-cooled electrodes achieves homogeneous areas of coagulation necrosis between two electrodes, preferably at 3 or 4 cm inter-electrode distance for 20 min, and is better in creating large coagulation necrosis than bipolar RFA using internally cooled electrodes.
Geometry of the proximal femur in relation to age and sex: a cross-sectional study in healthy adult danes
Authors: Nissen N. , Hauge E. M. , Abrahamsen B. , Jensen J. E. B. , Mosekilde L. , Brixen K. 
Published: September 2005

Purpose: To describe the natural variation in hip geometry in relation to Danish population characteristics, and to establish normal reference values. Material and Methods: We included 249 healthy individuals (94 M and 155 F, aged 19–79 years) and measured hip-axis-length (HAL), neck-width (NW), neck-shaft-angle (NSA), and femoral head-radius (HR) on dual-energy X-ray absorptiometry (DXA) screen images. Results: HAL, NW, HR, and NSA were higher in men than in women (10.9±0.7 vs. 9.5±0.6 cm ( P<0.001), 3.8±0.3 vs. 3.3±0.3 cm ( P<0.01), 2.5±0.3 vs. 2.3±0.2 cm ( P<0.001), and 131±5 vs. 129±5° ( P<0.01). NSA was higher in post-menopausal than in pre-menopausal women (130±4 vs. 128±5° ( P<0.001)). In multiple regression analysis, HAL, NW, and HR were positively related to body height in both sexes ( R  =  0.20 to 0.63, P<0.05 to P<0.001). In females, NSA was positively related to body height ( R  =  0.20, P<0.05) and negatively to body weight ( R  =  −0.30, P<0.01). NW increased with age in men ( R  =  0.34, P<0.01) but not in women. Conclusion: Hip dimensions differ between genders in the Danish population. HAL, NW, and HR depend on body height. Finally, NW increases with age in men but not in women.