bluuebunny/crossref_metadata_2025_split huggingface dataset:
Where does it hurt? Describing the body locations of chronic pain
Authors: Davies H.T.O. , Crombie I.K. , Macrae W.A. 
Published: February 2004

Chronic pain patients have complex problems. Due to this, much research effort has been expended on the classification of pain patients and the classification of pain problems. A mainstay of most pain classification systems is the use of the physical location of the pain. Yet describing the location of the patient's pain is not straightforward. Many patients have pain at multiple sites and thus simple statements such as ‘patients with low back pain'; have considerable ambiguity. Does the statement refer to patients with pain just in the lower back or those with low back pain who may also have pain elsewhere (e.g. pain down the leg)? If patients do have pain elsewhere, at what other body sites and what are the implications of this?This paper presents data on the body location of pain for a large sample of 5279 patients seen with chronic pain in Scotland and the north of England. It shows that one‐third of patients have pain in multiple locations, and that using a single body site to classify patients leads to groups with large overlaps. Thus, 38% of patients reported pain in the ‘lower bacK+spine'; and 34% reported pain in the ‘buttock, leg, foot’ — but there was considerable overlap between these groups. Nineteen percent of patients reported pain in both of these body areas, and one‐third of these patients also had pain in at least one further body area. Furthermore, a systematic look at patients with diverse physical pain locations but a single site in common shows large demographic differences.Common pain groupings help to reduce the confusion; 13 pain site descriptions were able to account for 82% of all patients. The remaining 18% of patients had pain in a combination of body sites which they shared with fewer than 1% of other patients. Thus, pain patients are widely heterogeneous and complex.Patients report pain in more complex patterns than can easily be captured by a single body‐site code. Further, large demographic differences between patients with different painful sites, even when they have at least one pain site in common, suggests that grouping patients based on a single site descriptor may be inappropriate. These findings have important implications for chronic pain description and classification.
Patient‐controlled extradural analgesia after caesarean section: a comparison between tramadol, sufentanil and a mixture of both
Authors: Vercauteren M.P. , Mertens E. , Schols G. , Van Mol I. , Adriaensen H.A. 
Published: February 2004

In a double‐blind randomised study into post‐operative pain relief by extradural PCA, 66 Caesarean section patients were divided in to three groups to receive either sufentanil (2 μ/ml), tramadol (10 mg/ml) or a mixture of both. After a loading dose of 10 ml, patients were allowed to ask for additional boluses of 2.5 ml, respecting a lock‐out time of 10 min and a 1‐h limit of 10 ml. Every 6 h, VAS pain scores, consumption of drugs, number of demands and side‐effects were registered.At 6 h, pain was significantly less in the combination group compared to patients receiving tramadol alone. The 24‐h dose requirements for sufentanil and tramadol when used alone were 123.5±10.3 μg and 652±42 mg, respectively. Combining both drugs decreased the consumption and number of demands for tramadol only (22%, p<0.05 vs 18% for sufentanil, NS). In the tramadol groups, more failures and significantly more side‐effects, mainly nausea and vomiting, were noticed.It may be concluded that the extradural use of tramadol is less beneficial than previously reported. Due to disturbing side‐effects, relatively high dose requirements (even after the addition of a lipophilic opioid) and somewhat inferior analgesic quality, its extradural administration for postoperative pain relief cannot be recommended.
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA
Authors: Jacobs L. J. A. M. , Jongbloed R. J. E. , Wijburg F. A. , de Klerk J. B. C. , Geraedts J. P. M. , Nijland J. G. , Scholte H. R. , de Coo I. F. M. , Smeets H. J. M. 
Published: February 2004

AbstractSummary: Pearson syndrome is an often fatal multisystem disease associated with mitochondrial DNA rearrangements. Here we report a patient with a novel mtDNA deletion of 3.4 kb ranging from nucleotides 6097 to 9541 in combination with deletion dimers. The mutation percentage in different tissues (blood, muscle and liver) varied between 64% and 95%. After a remission period of about a year, the patient suddenly died at the age of 3 years owing to a severe lactic acidosis. A second patient with a previously reported deletion of 8 kb and a milder phenotype was found to have mitochondrial duplications and died at the age of 10 years. From these data and data from previous reports, we hypothesize that duplications might be beneficial in the clinical course of the disease and in life expectancy.
Homozygous acute intermittent porphyria in a 7‐year‐old boy with massive excretions of porphyrins and porphyrin precursors
Authors: Hessels J. , Voortman G. , van der Wagen A. , van der Elzen C. , Scheffer H. , Zuijderhoudt F. M. J. 
Published: February 2004

AbstractSummary: A 7‐year‐old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow‐brown teeth and dark red urine had excessively elevated levels of urinary δ‐aminolevulinic acid, porphobilinogen and uroporphyrin. Furthermore hepta‐, hexa‐, penta‐ and copro(I)porphyrins were highly increased in urine. This pattern of porphyrin precursor and metabolite excretion is characteristic of acute intermittent porphyria. The decreased copro(III)/copro(I+III) ratio, normally not found in acute intermittent porphyria, is discussed. The porphobilinogen deaminase activity in red cells was decreased to 2–4%. Mutation analysis revealed a novel homozygous L81P mutation in exon 6 of the porphobilinogen deaminase gene. The father and mother, shown to be gene carriers of the same mutation, are asymptomatic and have normal urinary porphyrin precursor and metabolite excretion.
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?
Authors: Freisinger P. , Horvath R. , Macmillan C. , Peters J. , Jaksch M. 
Published: February 2004

AbstractSummary:Mutations in Sco2, a protein involved in copper trafficking to the terminal enzyme of the respiratory chain, cytochromecoxidase, results in infantile hypertrophic cardioencephalomyopathy. We have recently shown that copper‐histidine (Cu‐his) supplementation of Sco2‐deficient myoblasts rescues COX activityin vitro. Here, we report a patient withSCO2 mutations and with resolution of severe hypertrophic cardiomyopathy. Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu‐his.
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging
Authors: Nishimura Y. , Tajima G. , Bahagia A. Dwi , Sakamoto A. , Ono H. , Sakura N. , Naito K. , Hamakawa M. , Yoshii C. , Kubota M. , Kobayashi K. , Saheki T. 
Published: February 2004

AbstractSummary: The aetiology of hypergalactosaemia in 100 neonates detected by screening using the Paigen method is discussed. Hypergalactosaemia was transient in 94 cases and persistent in 6. The aetiology among transient cases was unknown in 55, delayed closure of the ductus venosus in 19, heterozygous UDP‐galactose 4‐epimerase (GALE) deficiency in 16, and heterozygous galactose‐1‐phosphate uridyltransferase (GALT) deficiency in 6. The aetiology among persistent cases was hepatic haemangioendothelioma with portovenous shunting in 2, and patent ductus venosus with hypoplasia of the intrahepatic portal vein, citrin deficiency, homozygous GALE deficiency, and heterozygous GALE deficiency in one patient each. The abnormalities of the portal system were identified ultrasonographically at the initial consultation and measurements of the total bile acid and α‐fetoprotein concentrations were helpful in resolving the differential diagnosis. The causes of hypergalactosaemia varied, but a major cause was portosystemic shunt. Evaluation of patients with hypergalactosaemia should not be limited to enzymatic analysis, but should also include hepatic imaging, especially ultrasonography. Additionally, determination of total bile acids and α‐fetoprotein is helpful in identifying the aetiology of hypergalactosaemia in infants.
Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase‐deficient Leigh syndrome
Authors: Head R. A. , Brown R. M. , Brown G. K. 
Published: February 2004

AbstractSummary: In three unrelated patients with systemic cytochrome oxidase deficiency resulting from mutations in the SURF1 gene, the same mutation in the splice donor site of intron 3 was identified. All three patients were compound heterozygotes, two for the common insertion/deletion mutation in exon 4. In all three cases, complete definition of the causative mutations was only resolved by combined analysis of cDNA and genomic DNA. Several factors were identified that contributed to the diagnostic difficulties: preferential amplification of deleted cDNA, significant formation of heteroduplexes in cDNA PCR amplification and unequal representation of heterozygous peaks in genomic DNA sequences. These patients emphasize the need to perform mutation analysis on both cDNA and genomic DNA wherever possible.
A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene
Authors: Argent A. C. , Chetty M. C. , Fricke B. , Bertrand Y. , Philippe N. , Khogali S. , von Düring M. , Delaunay J. , Stewart G. W. 
Published: February 2004

AbstractSummary: The case of a French child, born of consanguineous parents of Tunisian origin, is described. He showed a severe multisystem disease with dyserythropoietic, sideroblastic anaemia, delayed neurological development with hypotonia and convulsions, salt‐losing nephropathy, chronic watery diarrhoea, lactic acidosis with mitochondrial dysfunction, brittle hair, hypergammaglobulinaemia, fatty liver with intermittent transaminasaemia, and terminal pulmonary fibrosis. Two siblings, of both sexes, were stillborn; two more lived only a short time. One sister is alive and well. SDS gel analysis of the red cell membranes showed a deficiency within ‘Band 7’ at 32 kDa. Analysis of the gene encoding ‘stomatin’, or ‘erythrocyte membrane protein 7.2b’, the principal protein of ‘Band 7’, revealed a complex series of aberrant spliceforms centred around exon 3, for which no explanatory genomic lesion could be found. The true underlying molecular cause of this condition remains obscure, but it suggests that the stomatin gene should be studied in other cases.
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX
Authors: Cabrera‐Abreu J. , Crabtree N. J. , Elias E. , Fraser W. , Cramb R. , Alger S. 
Published: February 2004

AbstractSummary: Patients with glycogen storage disease (GSD) types I, III and IX show reduced bone mineral content, but there is scarce data on new serum and urine markers of bone turnover or their relationship to bone densitometry. Six GSD I, four GSD III and four GSD IX patients underwent bone mineral density (BMD) measurement by dual‐energy X‐ray absorptiometry. Free pyridinoline (fPYD): creatinine and free deoxypyridinoline (fDPD):creatinine ratios were analysed on random urines. Procollagen type I C‐terminal propeptide, procollagen type I N‐terminal propeptide (PINP), carboxyterminal telopeptide of type I collagen and bone‐specific alkaline phosphatase were analysed in serum. Some GSD I and GSD III patients had low or very low BMD. There was no difference in total body BMD z‐score between the GSD types after adjusting for height (p=0110). Bone marker analysis showed no consistent pattern. Urine fPYD:creatinine ratio was raised in four GSD I and two GSD III patients, while serum PINP was inappropriately low in some of these patients. There was no clear correlation between any markers of bone destruction and total body z‐score, but the patient with the lowest total body z‐score showed the highest concentrations of both urinary fPYD:creatinine and fDPD:creatinine ratios. We conclude that some GSD I and GSD III patients have very low bone mineral density. There is no correlation between mineral density and bone markers in GSD patients. The inappropriately low concentration of PINP in association with the raised urinary fPYD:creatinine and fDPD:creatinine ratios seen in two GSD I patients reflect uncoupling of bone turnover. All these findings taken together suggest that some GSD I and GSD III patients may be at an increased risk of osteoporosis.
Blood acylcarnitine levels in normal newborns and heterozygotes for medium‐chain acyl‐CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
Authors: Lehotay D. C. , LePage J. , Thompson J. R. , Rockman‐Greenberg C. 
Published: February 2004

AbstractSummary: Patients with medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency are unable to metabolize medium‐chain fatty acids. Affected patients display a characteristic acylcarnitine profile when blood spots are collected after birth and analysed by tandem mass spectrometry. To determine the potential risk of metabolic decompensation in newborns with elevations of diagnostic metabolites (octanoylcarnitine>0.3, but <1 µmol/L), we investigated the relationship between octanoylcarnitine (C8) concentration in neonatal blood spots and the 985A>G MCAD genotype. Octanoylcarnitine values from 7140 newborns' blood spots were sorted. The highest C8 was 0.7 µmol/L, which is below the range in classical MCAD deficiency. Samples with C8 levels above 0.25 µmol/L (group C) represented 1.4% of the total. Values between 0.05 and 0.25 µmol/L (group B) made up 87.8% of the total; 10.8% of the samples had C8 values less than 0.05 µmol/L (group A). One hundred samples from each group were selected at random and genomic DNA was amplified by PCR and analysed for the presence of the 985A>G mutation. The analysed samples from groups A and B were all homozygous normal. The 100 samples from group C contained 26 samples that were heterozygous for the 985A>G mutation. These findings indicated that the frequency distribution of heterozygotes is not random within this population. Group C was further divided into C1, the 26 heterozygotes, and C2, the remaining 74 newborns in group C. In group C1 only 2 (8%) were in the ‘high‐risk’ group characterized by either low birth weight or requiring admission to the neonatal intensive care unit. In contrast, 28 (38%) from C2 had low birth weight or were in the neonatal intensive care unit. In our dataset, C8/C2 and C8/C12 ratios were also significantly elevated in both groups C1 and C2 compared to controls (group B). In contrast to what others have reported, the ratio of C8/C10 did not differentiate the group B controls from heterozygotes or other patients in metabolic distress (group C2), but were lower than those seen in classic MCAD or mild MCAD deficiency.
The distribution of white blood cell fat oxidation in health and disease
Authors: Pendergast D. R. , Fisher N. M. , Meksawan K. , Doubrava M. , Vladutiu G. D. 
Published: February 2004

AbstractSummary: Fat oxidation is important for maintaining health and for supplying energy for exercise. We have proposed that the predisposition for individual rates of fat oxidation is determined genetically but may be modulated by acute exercise or exercise training. The purpose of this study was to examine cellular fat oxidation in white blood cells (WBC) using [9,10‐3H]palmitic acid. Sedentary controls free of symptoms (SED‐C, n=32), were compared with known carnitine palmitoyltransferase (CPT) II‐deficient patients (n=2), patients with fatiguing diseases (chronic fatigue syndrome, CFS, n=6; multiple sclerosis, MS, n=31), obesity (OB, n=5), eating disorders (ED, n=16), sedentary individuals prior to and after exercise (SED‐Ex, n=12), exercise‐trained sedentary individuals (SED‐Tr, n=12), and elite runners (ER, n=5). Fat oxidation in WBC for all subjects was normally distributed (mean=0.270±0.090 nmol/h per 109 WBC) and ranged from 0.09 nmol/h per 109 WBC in CPT II‐deficient patients to 0.59 nmol/h per 109 WBC in ER. There were no significant sex or acute exercise effects on WBC fat oxidation. Patients with MS, OB or ED were not different from SED‐C; however, in CPT II‐deficient patients, fat oxidation was low, while that of CFS patients was high. Exercise training in SED‐C resulted in a 16% increase in fat oxidation but in ER it was still 97% higher than in SED‐C. We propose that while WBC fat oxidation is not significantly affected by sex or acute exercise, and only by 15–20% with training, genetic factors play a role in determining both high and low fat oxidation in certain groups of individuals. The genetic predisposition for individual rates of fat oxidation may be easily measured using WBC fat oxidation, as has been shown for CPT II‐deficient patients and for elite runners. Ranges of WBC fat oxidation that are abnormally low (<20 nmol/h per 109 WBC, normal 20–35) or high (>35 nmol/h per 109 WBC) are proposed based on genetic factors evaluated in this study.
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient
Authors: Schiaffino M. C. , Fantasia A. R. , Minniti G. , Caruso U. , Carnevale F. , Cerone R. 
Published: February 2004

AbstractSummary: A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic lesions.
Energy expenditure in patients with propionic and methylmalonic acidaemias
Authors: van Hagen C. C. , Weber E. Carbasius , van den Hurk Th. A .M. , Oudshoorn J. H. , Dorland L. , Berger R. , de Koning T. 
Published: February 2004

AbstractSummary: Resting energy expenditure (REE) was investigated in 8 children with propionic and methylmalonic acidaemias because a lowered REE has been reported in the literature. We observed a marginally elevated REE and think thatadequate caloric intake and the use of a synthetic amino acid mixture are responsible for this.
CDG IIx with unusual phenotype
Authors: Cheillan D. , Cognat S. , Dorche C. , Jaeken J. , Vianey‐Saban C. , Guffon N. 
Published: February 2004

AbstractSummary: Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N‐glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein‐bound glycans. We report a patient with CDG IIx and an unusual phenotype.
Tay–Sachs disease in Brazilian patients: Prevalence of the IVS7+1g>c mutation
Authors: Rozenberg R. , Martins A. M. , Micheletti C. , Mustacchi Z. , Pereira L. V. 
Published: February 2004

AbstractSummary: Seven Brazilian Tay–Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation. Three patients were homozygotes, three were compound heterozygotes, and in one case only the mother was tested and shown to carry the IVS7+1g>c mutation. In the second allele the compound heterozygotes presented: R178H (the DN allele), InsTATC1278 and an unidentified mutation. The IVS7 + 1g>c mutation has already been described in three Portuguese patients. In this study, all families were unaware of any Portuguese ancestry. Since Brazil was a Portuguese colony, the mutation most probably came from ancient common ancestry. The initial molecular analysis of Tay–Sachs disease patients in Brazil indicated a prevalence of the IVS7+1g>c mutation, possibly as a result of genetic drift.
Straight‐chain acyl‐CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic‐type regression and a selective pattern of leukodystrophy
Authors: Kurian M. A. , Ryan S. , Besley G. T. N. , Wanders R. J. A. , King M. D. 
Published: February 2004

AbstractSummary: We report a rare case of straight‐chain acyl‐CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.
Reversible myopathy during successful treatment with pegylated interferon and ribavirin for acute hepatitis C
Authors: Golstein P. E. , Delforge M. L. , Deviere J. , Marcellin P. 
Published: February 2004

Summary.There is no standard approved treatment for acute hepatitis C and the combination of pegylated interferon‐αand ribavirin, currently recognized as the standard of care for chronic hepatitis C, has not been evaluated for acute hepatitis C. Adverse events induced by interferon therapy are numerous but myopathy is rare and has not been described with the use of pegylated interferon‐α. We report the case of a 33‐year‐old Caucasian man who was successfully treated for acute hepatitis C with the combination of pegylated interferon‐α2b and ribavirin, and who during treatment developed myopathy which proved reversible.
Origins of mangrove ecosystems and the mangrove biodiversity anomaly
Authors: Ellison Aaron M. , Farnsworth Elizabeth J. , Merkt Rachel E. 
Published: February 2004

ABSTRACT 1. Mangrove species richness declines dramatically from a maximum in the Indo‐West Pacific (IWP) to a minimum in the Caribbean and Western Atlantic. Explaining this ‘anomalous’ biogeographic pattern has been a focus of discussion for most of this century.2. Two hypotheses have been put forward to explain the mangrove biodiversity anomaly. The ‘centre‐of‐origin hypothesis’ asserts that all mangrove taxa originated in the IWP and subsequently dispersed to other parts of the world. The ‘vicariance hypothesis’ asserts that mangrove taxa evolved around the Tethys Sea during the Late Cretaceous, and regional species diversity resulted from in situ diversification after continental drift.3. Five lines of evidence are used to test between these two hypotheses. First, we review the mangrove fossil record. Second, we compare modern and fossil distributions of mangroves and eight genera of gastropods that show high fidelity to the mangrove environment. Third, we describe species‐area relationships of mangroves and associated gastropods with respect to area of available habitat. Fourth, we analyse patterns of nestedness of individual plant and gastropod communities in mangrove forests. Fifth, we analyse patterns of nestedness of individual plant and gastropod species.4. All five lines of evidence support the vicariance hypothesis. The first occurrences in the fossil record of most mangrove genera and many genera of gastropods associated with mangrove forests appear around the Tethys Sea from the Late Cretaceous through the Early Tertiary. Globally, species richness in any given mangrove forest is tightly correlated with available area. Patterns of nestedness at the community and species‐level both point towards three independent regions of diversification of mangrove ecosystems: South‐east Asia, the Caribbean and Eastern Pacific, and the Indian Ocean region.