bluuebunny/crossref_metadata_2025_split huggingface dataset:
Defects of fatty acid oxidation in skeletal muscle
Authors: Turnbull D. M. , Bartlett K. , Watmough N. J. , Shepherd I. M. , Sherratt H. S. A. 
Published: June 2005

AbstractFatty acids are important substrates for resting and exercising skeletal muscle. Defects of fatty acid oxidation result in muscle pain and weakness, and there is often lipid accumulation in muscle fibres. Only a few of the several possible enzyme defects have been found and some of these have responded to therapy. Some techniques for the investigation of fatty acid oxidation are outlined.
Mitochondrial myopathies
Authors: DiMauro S. , Bonilla E. , Zeviani M. , Servidei S. , DeVivo D. C. , Schon E. A. 
Published: June 2005

AbstractThe mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of β‐oxidation; (3) defects of the Krebs cycle, such as fumarase deficiency; (4) defects of oxidation‐phosphorylation coupling, such as Luft disease, and (5) defects of the respiratory chain. These disorders are reviewed, with particular emphasis on the defects of the respiratory chain. Defects of complex I, III and IV show remarkable clinical and biochemical heterogeneity. All 3 complexes contain some subunits encoded by mtDNA and others encoded by nuclear DNA. At least some of the cytoplasmically made subunits appear to be tissue specific and may be developmentally regulated, thus explaining the genetic heterogeneity of these disorders.
Magnetic resonance spectroscopy in the recognition of metabolic disease
Authors: Griffiths R. D. , Edwards R. H. T. 
Published: June 2005

AbstractMagnetic resonance (MR) is rapidly entering many fields of clinical medicine following a long history as a powerful tool in physics and chemistry. The non‐invasive and non‐destructive property of this technique has enabled the chemical shift in higher magnetic fields to be exploited to identify and quantitate metabolites in bothin vitroandin vivoanalysis. High resolution proton spectroscopy of body fluids has been shown to be complementary with established analytical techniques, while the development of whole body large bore magnets is enabling both the study of structure and metabolism in humansin vivo. Phosphorus MR spectroscopy has provided a method of monitoring ATP production and utilisationin situin both perfused preparation and intact tissue. In human muscle it has been possible to test established theories of tissue energy metabolism. It provides a unique method with which to evaluate the state of tissue oxidative metabolism. The opportunities afforded by other nuclei are being studied, but the low sensitivity of the MR technique forces limitations. Recent technical advances in tissue localization have as yet only been applied in a limited way. The use of MR in metabolic disease will be considered with specific reference to disorders of skeletal muscle metabolism.
The inborn errors of mitochondrial fatty acid oxidation
Authors: Vianey‐Liaud C. , Divry P. , Gregersen N. , Mathieu M. 
Published: June 2005

AbstractTo date, seven inborn errors of mitochondrial fatty acid oxidation have been identified. A total of about 100 patients in the world have been reported. Clinically the β‐oxidation defects are more often characterized by episodic hypoglycaemia leading to a coma mimicking Reye's syndrome. The hypoglycaemia is non‐ketotic since the synthesis of ketone bodies is deficient. Periods of decompensation occur when carbohydrate supply is poor, e.g. prolonged fasting, vomiting, or increased caloric requirements, as and when lipid stores are used. Defects in β‐oxidation have also been reported to be one cause of sudden infant death syndrome. The diagnosis of these inborn errors is by biochemical investigation since where symptoms suggest such a defect, the precise aetiology cannot be assessed. The biochemical diagnosis is based firstly on identification of abnormal plasma and of urinary metabolites during acute attacks. Derivatives of the ω‐oxidation and ω‐1‐oxidation of medium chain fatty acids have been identified, as well as acylglycine and acylcarnitine conjugates. These metabolites are nearly always absent when patients are in good clinical condition. Secondly, the diagnosis must be based on the identification of the enzymatic defects: this involves global assays which allow a localization of the ‘level’ of the defect (i.e. the oxidation of long, medium or short chain fatty acids) and specific measurement of enzyme activities (acyl‐CoA dehydrogenases and electron carriers: ETF and ETF‐DH). The diagnosis of these disorders is of prime importance because of the severity of the clinical symptoms. These can be prevented, in some cases, by an appropriate diet (a high carbohydrate, low fat diet, sometimes supplemented withl‐carnitine). In other cases, genetic counselling can be offered.
Protein‐bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine‐synthase deficiency
Authors: Sartorio R. , Carrozzo R. , Corbo L. , Andria G. 
Published: June 2005

AbstractWe measured protein‐bound plasma homocyst(e)ine in 15 normal adult subjects and nine heterozygotes for homocystinuria due to cystathionine β‐synthase deficiency. The mean (±SD) concentrations obtained in the two groups of subjects were 4.35±1.50 and 9.16±3.40 µmoll−1, respectively. The mean values were significantly different, although the levels of three heterozygotes overlapped those of the control range. This method allows preliminary screening of the heterozygotes for homocystinuria and can be carried out by laboratories that have only facilities for amino acid analysis.
Family studies of the Lesch‐Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis
Authors: Gibbs D. A. , Headhouse‐Benson C. M. , Watts R. W. E. 
Published: June 2005

AbstractWe have investigated the usefulness of a full‐length cDNA probe for the hypoxanthine phosphoribosyltransferase, HPRT gene in the diagnosis of the carrier state for the Lesch‐Nyhan syndrome in 13 families. The products of DNA digestion by 21 different restriction enzymes were examined by Southern analysis. The only useful polymorphism detected was a three allele polymorphism withBam HI; others were found withMsp I andHind III but they were not linked to the disease. None of the boys with the Lesch‐Nyhan syndrome had a unique polymorphism and therefore a detectable gene deletion or other major structural alteration. A DNA polymorphism capable of giving additional diagnostic information with respect to carrier status was present in 8 of the 13 families, but not for all of the family members at risk. The cDNA probe and restriction enzyme analysis gave anunequivocal diagnosis to 20 women out of 28 who might have been carriers and for whom it would not have been available on the basis of pedigree analysis and biochemical tests alone. If a linked polymorphism is to be useful for carrier detection it must be present in only one of the mother's X‐chromosomes (i.e. the mother must carry a different allele on each X‐chromosome). Although this polymorphism is detected by an HPRT probe it is not at the site of the specific gene lesion. In spite of considerable genetic heterogeneity, most cases of the Lesch‐Nyhan syndrome appear to be due to either single base substitutions or small deletions which are not detectable by Southern analysis. None of the propositi in these families was due to a new mutation arising in the maternal germ line. One family was identified in which the evidence was compatible with a mutation having arisen in the X‐chromosome which the mother of the propositus inherited from her father, and in another family the mutation arose in the maternal grandmother. A case illustrating the application of this restriction fragment length polymorphism to the first trimester prenatal diagnosis of the Lesch‐Nyhan syndrome is also reported. This study illustrates the limitations as well as the value of using a linked DNA polymorphism for carrier state diagnosis in X‐linked diseases.
β‐mannosidosis: Prenatal detection of caprine allantoic fluid oligosaccharides with thin layer, gel permeation and high performance liquid chromatography
Authors: Dahl D. L. , Warren C. D. , Rathke E. J. S. , Jones M. Z. 
Published: June 2005

AbstractIn the goat, β‐mannosidosis can be diagnosed before birth from the concentrations of oligosaccharides in allantoic fluid.
Outcome of pregnancy in the rat with mild hyperphenylalaninaemia and hypertyrosinaemia: Implications for the management of “human maternal PKU”
Authors: Lewis S. A. , Lyon I. C. T. , Elliott R. B. 
Published: June 2005

AbstractIn attempting to determine the effects of mildly elevated maternal phenylalanine (Phe) blood levels on the developing fetal rat brain, a dietary supplement of Phe was given, under taste cover of Aspartame. Phe and tyrosine (Tyr) levels were mildly elevated throughout pregnancy without evidence of malnutrition. Mild hyperphenylalaninaemia with concurrent hypertyrosinaemia induced in rats prior to conception resulted in microcephaly and lasting behavioural problems in the offspring, specifically hyperactivity and learning difficulties. Dams fed Tyr to produce Tyr levels equivalent to the Phe‐fed animals showed only the learning difficulties among the offspring.α‐Methyl Phe, a Phe hydroxylase inhibitor, fed in conjunction with Phe, at the level relevant to these experiments, resulted in raised Tyr levels and does not provide a better method of determining whether mildly elevated maternal Phe levels alone, or Phe and Tyr in combination, cause the abnormality found in the offspring of Phe‐supplemented dams.Therapeutic addition of Tyr to diets of mothers with even mild hyperphenylalaninaemia should be approached with caution as mild co‐elevation of Phe and Tyr in the fetus may be harmful.In the face of such a possible therapeutic dilemma alternatives, such as dietary additions of other essential amino acids to limit fetal brain damage, need to be explored.
Comparative column chromatographic estimations of phenylalanine in plasma, whole blood, native and paper‐dried capillary blood of healthy children and adults, and patients with hyperphenylalaninaemia
Authors: Becker K. , Harenz J. , Kalle N. , Hommel G. , Behbehani A. W. 
Published: June 2005

AbstractThe concentration of phenylalanine in plasma, whole venous and capillary blood, and paper‐dried blood of 75 probands (25 healthy adults, 27 healthy children, and 23 patients with hyperphenylalaninaemia) were measured by use of a sensitive short column chromatography method. The comparison of the values in each group of probands by several statistic methods showed an excellent correlation of the phenylalanine concentration in paper‐dried whole blood to those measured in venous plasma. Evaluation of the analytical method revealed a high sensitivity and accuracy by use of a sample volume of 50 µl. We would therefore suggest that the estimation of phenylalanine for the diagnosis and therapy control in hyperphenylalanine is as accurate in paper‐dried blood as in venous plasma and would simplify sampling for the patients as well as enhance the diagnosis and therapy control in hyperphenylalaninaemia.
Early Enteral Feeding by Nasoenteric Tubes in Patients with Perforation Peritonitis
Authors: Kaur Navneet , Gupta Manish K. , Minocha Vivek Ratan 
Published: June 2005

AbstractMalnutrition is well recognized as a potential cause of increased morbidity and mortality in surgical patients. Early postoperative enteral nutrition through a feeding jejunostomy has been shown to improve results in patients undergoing major resections for gastrointestinal malignancies, trauma, and perforation peritonitis. We conducted a prospective study to assess the feasibility and short‐term efficacy of early enteral feeding through a nasoenteric tube placed intraoperatively in patients with nontraumatic perforation peritonitis with malnutrition. One hundred patients with nontraumatic perforation peritonitis with malnutrition undergoing exploratory laparotomy were randomly divided into a test group (TG) and a control group (CG) of 50 patients each. TG patients had a nasoenteric tube placed at the time of surgery and were started on an enteral feeding regime 24 hours postoperatively. Patients in CG were allowed to eat orally once they passed flatus. The differences between the two groups with respect to nutritional intake in terms of energy and protein, changes in nutritional status as assessed by anthropometric, biochemical, and hematological values, amount of nasogastric aspirate, return of bowel motility, and complication rates were analyzed. The nasoenteric feeding was well tolerated. Total calorie and protein intake in TG was significantly higher than in CG: 981 vs. 505 kcal (p < 0.01), protein 24 vs. 0 g on day 3 and 1498 vs. 846 kcal (p < 0.01), protein 44 vs. 23 g (p < 0.01) on day 7, respectively. There was reduction in the amount of nasogastric aspirate in TG compared with that in CG: 431 vs. 545 ml/24 h on day 2 and 301 vs. 440 ml/24 h on day 3, respectively. There was much faster recovery of bowel motility in TG than in CG at 3.34 vs. 4.4 days (p < 0.01). Complications developed in 39 of 50 patients in TG and in 47 of 50 in CG. The major complications occurred in 6 patients in TG and 12 patients in CG (p < 0.05). Patients with perforation peritonitis with malnutrition are likely to develop large energy deficits postoperatively, resulting in higher incidence of infective complications. Early enteral feeding through a nasoenteric tube is well tolerated by these patients and helps to improve energy and protein intake, reduces the amount of nasogastric aspirate, reduces the duration of postoperative ileus, and reduces the risk of serious complications.
Long‐term Efficacy of Distal Splenorenal Shunt with Splenopancreatic and Gastric Disconnection for Esophagogastric Varices in Patients with Idiopathic Portal Hypertension
Authors: Hase Ryunosuke , Hirano Satoshi , Kondo Satoshi , Okushiba Shunichi , Morikawa Toshiaki , Katoh Hiroyuki 
Published: June 2005

AbstractIdiopathic portal hypertension (IPH) requires invasive measures to prevent rupture and bleeding of esophagogastric varices. However, the long‐term results of shunt surgery for IPH have not been reported. In particular, the pros and cons of surgery that preserves the spleen and its long‐term hematologic effects have not been described.The records of 15 patients who underwent distal splenorenal shunt with splenopancreatic and gastric disconnection (DSRS with SPGD) for IPH between 1983 and 1998 was reviewed retrospectively.One patient died within 3 years of surgery, for a 3‐year survival rate of 93%; the 10‐year survival rate was 64%. Three patients (18%) suffered rebleeding from esophagogastric varices. The white blood cell and platelet counts were higher 3–5 years and 7–13 years postoperatively compared with preoperative values. Four of five patients who underwent postoperative computed tomography had a smaller spleen postoperatively.DSRS with SPGD provides long‐term hemostasis for esophagogastric variceal bleeding in IPH and alleviates hypersplenism. DSRS with SPGD is an effective treatment for patients with IPH in whom long‐term survival is expected.
The Impact of the Risk Factor “Age” on the Early Postoperative Results of Surgery for Colorectal Carcinoma and Its Significance for Perioperative Management
Authors: Marusch Frank , Koch Andreas , Schmidt Uwe , Steinert Ralf , Ueberrueck Torsten , Bittner Reinhard , Berg Eugen , Engemann Rainer , Gellert Klaus , Arbogast Rainer , Körner Thomas , Köckerling Ferdinand , Gastinger Ingo , Lippert Hans 
Published: June 2005

AbstractThe risks and benefits of surgery for colorectal cancer in old patients have not been unequivocally defined. The present investigation was carried out in 309 hospitals as a prospective multicenter study. In the period between 1 January 2000 and 31 December 2001, a total of 19,080 patients were recruited for the study; 16,142 (84.6%) patients were younger than 80 years (<80) and 2932 (15.4%) were 80 years and older (≥ 80). Significant differences between the age groups were observed for general postoperative complications (22.3% for <80 years; 33.9% for ≥ 80). Specific postoperative complications were identical in both groups. Overall, significantly elevated morbidity and mortality rates were found with increasing age (morbidity: 33.9% vs. 43.5%; mortality: 2.6% vs. 8.0%). The distribution of tumor stages revealed a significantly higher percentage of locally advanced tumors in the older age group (stage II: 28.0% vs. 34.4%). In contrast, no increase in metastasizing tumors was found in the older age group (stage IV: 17.4% vs. 14.1%). Logistic regression showed that, in concert with a number of other parameters, age is a significant influencing factor on postoperative morbidity and mortality. The increase in postoperative morbidity and mortality rates associated with aging is a result of the increase in general postoperative complications, in particular, pneumonia and cardiovascular complications. Age as such does not represent a contraindication for surgical treatment. The short‐term outcome and quality of life are of overriding importance for the geriatric patient.
A Critical Comparison of Robotic Versus Conventional Laparoscopic Splenectomies
Authors: Bodner Johannes , Kafka‐Ritsch Reinhold , Lucciarini Paolo , III John H. Fish , Schmid Thomas 
Published: June 2005

AbstractThe benefit of robotic systems for general surgery is a matter of debate. We compare our initial series of robotic splenectomies with our first series of conventional laparoscopic ones. A retrospective analysis of the first six robotic versus the first six conventional laparoscopic splenectomies is presented. Patients were matched with regard to age, bodymass index, ASA score, and preoperative platelet levels. All procedures were performed by a single surgeon. Size and weight of the resected specimens were comparable in both groups. Median overall operating time was 154 (range, 115–292) min for the robotic and 127 (range, 95–174) min for the laparoscopic group. No complications occurred. There were no open conversions. The median postoperative hospital stay was 7 (robotic group) and 6 (laparoscopic group) days. Median average costs were $6927 for the robotic procedure versus $4084 for the conventional laparoscopic procedure (p < 0.05). Minimally invasive splenectomies are feasible using either conventional laparoscopic techniques or the da Vinci™ robotic system. In this analysis, procedures performed with the da Vinci™ robotic system resulted in prolonged overall operative time and significantly higher procedural costs. The use of a robotic system for laparoscopic splenectomy offers, at this stage, no relevant benefit and thus is not justified.
Ill‐defined Edge on Ultrasonographic Examination Can Be a Marker of Aggressive Characteristic of Papillary Thyroid Microcarcinoma
Authors: Ito Yasuhiro , Kobayashi Kaoru , Tomoda Chisato , Uruno Takashi , Takamura Yuuki , Miya Akihiro , Matsuzuka Fumio , Kuma Kanji , Miyauchi Akira 
Published: June 2005

AbstractWe have previously demonstrated that, although most papillary thyroid microcarcinomas (PMC) do not grow or grow only slowly, cases showing lateral node metastasis diagnosed by ultrasonography (US) show an aggressive characteristic associated with poor disease‐free survival. In this study, we focused on two prominent US features: tumor, edge definition and strong echoes. We investigated whether these findings reflect aggressive characteristics of PMC in a series of 155 cases. Poor edge definition was observed in 21.5% of patients, all of who showed worse disease‐free survival (p = 0.0477) than those with a well‐defined edge. Furthermore, this finding was directly linked to US‐diagnosed lateral node metastasis (p = 0.0001). Strong echoes were observed in 63.9% of the cases, and fine strong echoes were seen in 25.2%. Cases demonstrating fine strong echoes tended to frequently show recurrence (p = 0.0902), and this finding was also significantly linked to US‐diagnosed lateral node metastasis (p = 0.0494). These findings suggest that an ill‐defined tumor edge is an important US feature of biologically aggressive PMC. We should carefully follow such patients, regardless of the therapeutic strategy, observation, or surgical treatment chosen.
Bile Duct Injuries at Laparoscopic Cholecystectomy: A Single‐Institution Prospective Study. Acute Cholecystitis Indicates an Increased Risk
Authors: Söderlund Claes , Frozanpor Farshad , Linder Stefan 
Published: June 2005

AbstractDuring the last decade laparoscopic cholecystectomy (LC) has become established as the gold standard. The drawbacks in the form of bile duct (BD) injuries have also come into focus. We present the results of a prospective, consecutive series of 1568 patients with reference to BD injuries regarding risks, management, and preventive measures. The significant complications of all patients operated upon with LC between October 1999 and December 2003 were recorded prospectively. BD injuries were classified according to Strasberg into types A–E. Transected major BDs, injuries of type E, were regarded as “major” injuries and types A, B, C, and D were “minor” injuries. Major BDs were transected in five patients (0.3%), three of whom had acute cholecystitis. In the two patients operated on electively, the BD injuries were detected postoperatively, while they were detected intraoperatively when the operation was performed of necessity. The BDs were all reconstructed with a Roux‐en‐Y hepaticojejunostomy. Two patients had anastomotic strictures. Minor BD injuries were encountered in 19 patients (1.2%). The 13 patients with leakage from the cystic duct or gallbladder bed, injury type A, were treated by endoscopic (ERC) stenting without sequelae. Five patients sustained a lateral BD injury, type D; they were treated with a simple suture over a T‐tube (at LC) or endoscopically (ERC) without further problems. A transected aberrant right hepatic BD, type C injury, was due to its small‐caliber sutured. Minor BD injuries could be managed at the primary hospital if the endoscopic expertise were at hand. Acute cholecystitis seems to be a risk factor for BD injuries.
Groin Hernia Repair: Postherniorrhaphy Pain
Authors: J.O’Dwyer Patrick , Alani Ahmed , McConnachie Alex 
Published: June 2005

AbstractPersistent pain after hernia repair is common, although it is usually mild. In 3% of patients it is severe, however, and has significant effects on work and social activities. The purpose of this review was to examine factors that affect pain after hernia repair. Although the type of anaesthetic used, local or general, and the operation type, open or laparoscopic, seems to affect acute pain, chronic persistent pain is influenced by the age of the patient and whether the hernia was painful preoperatively. Preliminary evidence indicating that use of a lightweight mesh may reduce chronic pain requires further research before definitive conclusions can be drawn.