bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antibiogram of Pseudomonas aeruginosa Clinical Isolates Tested for Pan, Extensive and Multidrug Resistances
Authors: Maduakor Uzoamaka , Eleazar Clara , Nwafor Chidozie , Emenuga Veronica 
Published: January 2024

Background: Pseudomonas aeruginosa usually cause nosocomial infections with concurrent morbidity and mortality and is generally resistant to many antibiotics.
Aim: This study was aimed to determine the proportion of pan-drug-resistant (PDR), extensively drug-resistant (XDR), and multidrug-resistant (MDR) P. aeruginosa strains recovered from human samples.
Methodology: The retrospective study was conducted in the University of Nigeria Teaching Hospital Enugu in 2023. Clinical samples obtained from patients between October 2022 and April 2023 were analysed. A total of 100 Pseudomonas aeruginosa isolates recovered from 780 clinical samples were used. Standard microbiological techniques were used to identify and categorize the isolates. Antibiotic susceptibility pattern was determined using the Kirby Bauer disc diffusion method.
Results: Isolates recovered from wound was 38%, voided urine, catheter tip urine, ear swab, and high vaginal swab samples recorded 29%, 11%, 10% and 4%, respectively. Ceftazidime recorded the highest level of resistance (70.0%) and the least was Colistin (20%). Resistance patterns showed that 32(32.0%) bacterial strains were MDR, 68(68.0%) were XDR and no PDR was recorded.
Conclusions: For the best selection of empirical therapy, P. aeruginosa susceptibility monitoring is essential due to the high prevalence of antibiotic resistance. The resistance pattern raises the possibility of misuse of broad-spectrum antibiotics. Treatment for bacterial infections should be directed by the results of antimicrobial susceptibility tests.
A Longitudinal Examination of the Transition into Senior High School for Adolescents from Urban, Low‐Income Status, and Predominantly Minority Backgrounds
Authors: Reyes Olga , Gillock Karen L. , Kobus Kimberly , Sanchez Bernadette 
Published: December 2002

AbstractThe current 6‐year study investigates the impact of the elementary (K–8)‐to‐high school (9–12) transition on the school completion outcomes of 107 adolescents from urban, minority, low‐income status backgrounds. Descriptive findings provide a longitudinal profile of students' enrollment status throughout high school. Students who had graduated or were Active in the school system at the end of the study evidenced more marked change in perceptions of social support following the transition to the ninth grade compared to Inactive students, dropouts, who evidenced little change. With respect to academic performance, while both groups evidenced declines following the transition and failed to recover sustained losses, Inactive students declined more sharply in grades and attendance. Findings are discussed in terms of the mixed support for the transitional life events perspective. In addition, study limitations and directions for future research are discussed, including variables that should be considered in research with the targeted group.
Antecedents of Physical and Sexual Victimization Among Homeless Women: A Comparison to Homeless Men
Authors: Wenzel Suzanne L. , Koegel Paul , Gelberg Lillian 
Published: December 2002

AbstractHomeless women experience extensive health risks including physical and sexual victimization. Few studies that have gathered information on homeless persons have reported results separately for women or have compared them directly with men. Research that both investigates antecedents of victimization among homeless women and compares them to those for men is necessary to determine whether prevention efforts must be different for each group. We investigated potential antecedents of recent (past 30 days) physical and sexual victimization in a probability sample of 394 homeless women and compared findings to those for 1159 homeless men. As hypothesized, mental disorder, substance dependence, and engaging in economic survival strategies significantly predicted victimization among homeless women. With few dissimilarities, these characteristics also predicted victimization among homeless men. Although differences in the needs and experiences of homeless women and men must be recognized, both women and men require assistance to establish and maintain safe residences, treatment of any substance use and mental disorder, and alternatives to economic survival strategies that place them at risk for victimization.
Money Doesn't Talk, It Swears: How Economic Stress and Resistance Resources Impact Inner‐City Women's Depressive Mood
Authors: Ennis Nicole E. , Hobfoll Stevan E. , Schröder Kerstin E. E. 
Published: December 2002

AbstractWe examined the differential impact of chronic versus acute economic stress on depressive mood among a sample of 1241 low‐income, single, European and African American women. Based on Hobfoll's (1988, 1989) conservation of resources (COR) theory, we predicted that acute resource loss would be more distressing than chronic economic lack. That is, although chronically impoverished conditions are stressful, the attendant resource losses created will be more distressing. We further predicted that mastery and social support would be more beneficial in offsetting the negative consequences of acute resource loss than the negative consequences of chronic economic lack, because acute loss creates identifiable demands that resources may address. Hence, we hypothesized that mastery and social support would show stress buffering effects only for material loss, not chronic lack. The findings generally supported the hypotheses, but mastery buffered only European American women's resource loss and social support buffered only African American women's resource loss. The findings are discussed in light of implications for prevention within theoretical and cultural contexts.
Self‐Determination and Empowerment: A Feminist Standpoint Analysis of Talk about Disability
Authors: Sprague Joey , Hayes Jeanne 
Published: December 2002

AbstractIn this paper we offer a feminist analysis of talk about self‐determination and empowerment in the context of disability, focusing on the case of developmental disabilities. We find strains of the same patterns feminist epistemologists have argued shape the organization of formal knowledge from the standpoint of the privileged. At the extreme, people with developmental disabilities appear as objects without selves, outside of the context of interpersonal and social structural relationships that constrain who they can be by defining them as other, often in multiple and interacting ways. Empowerment, from the dominant standpoint, becomes an abstract attribute or condition; something a person has or does not have. Taking the standpoint of women and other marginalized people offers a view of self‐determination as a person's development of his or her self. Empowerment becomes a potential characteristic of a social relationship, one that facilitates the development of someone's self. The most empowering relationships are mutual, recognizing and building on the diverse contributions and needs of participants in ways that seek to minimize inequalities over time. The reason some of us are self‐determining is that we are in interpersonal and social structural relationships that empower us. To construct interpersonal and social structural relationships that empower people with developmental disabilities requires challenging the way dominant conceptualizations of independence and productivity also express the standpoint of the privileged. The standpoint of women allows all of us to talk more of how we connect with and facilitate one another's developing selves within communities.
Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency
Authors: Hershfield M. S. , Arredondo‐Vega F. X. , Santisteban I. 
Published: December 2002

AbstractAdenosine deaminase (ADA) deficiency was the first known cause of primary immunodeficiency. Over the past 25 years the basis for immune deficiency has largely been established. Now it appears that ADA deficiency may also cause hepatic toxicity, raising new questions about its pathogenesis. The ADA gene has been sequenced and the ADA three‐dimensional structure solved. The relationship between genotype and phenotype is being analysed, and ADA deficiency has become a focus for novel approaches to enzyme replacement and gene therapy.
Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies
Authors: Gregg A. R. , Warman A. W. , Thorburn D. R. , O'Brien W. E. 
Published: December 2002

AbstractWe identified a patient who excreted large amounts of methylmalonic acid and malonic acid. In contrast to other patients who have been described with combined methylmalonic and malonic aciduria, our patient excreted much larger amounts of methylmalonic acid than malonic acid. Since most previous patients with this biochemical phenotype have been reported to have deficiency of malonyl‐CoA decarboxylase, we assayed malonyl‐CoA decarboxylase activity in skin fibroblasts derived from our patient and found the enzyme activity to be normal. We examined four isocaloric (2000 kcal/day) dietary regimes administered serially over a period of 12 days with 3 days devoted to each dietary regimen. These diets were high in carbohydrate, fat or protein, or enriched with medium‐chain triglycerides. Diet‐induced changes in malonic and methylmalonic acid excretion became evident 24–36 h after initiating a new diet. Total excretion of malonic and methylmalonic acid was greater (p<0.01) during a high‐protein diet than during a high‐carbohydrate or high‐fat diet. A high‐carbohydrate, low‐protein diet was associated with the lowest levels of malonic and methylmalonic acid excretion. Perturbations in these metabolites were most marked at night. On all dietary regimes, our patient excreted 3–10 times more methylmalonic acid than malonic acid, a reversal of the ratios reported in patients with malonyl‐CoA decarboxylase deficiency. Our data support a previous observation that combined malonicand methylmalonic aciduria has aetiologies other than malonyl‐CoA decar‐boxylase deficiency. The malonic acid to methylmalonic acid ratio in response to dietary intervention may be useful in identifying a subgroup of patients with normal enzyme activity.
The association of protein‐losing enteropathy with cobalamin C defect
Authors: Ellaway C. , Christodoulou J. , Kamath R. , Carpenter K. , Wilcken B. 
Published: December 2002

AbstractWe report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein‐losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein‐losing enteropathy has not previously been reported in association with cobalamin C defect and, if unrecognized, could cause considerable morbidity.
Erythropoietic protoporphyria
Authors: Cox T. M. 
Published: December 2002

AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of simple assays for ferrochelatase activity and cloning of the human ferrochelatase gene promises to shed light on the transmission of this disorder and may allow clinical expression of disease to be predicted. This review surveys the pathological features, genetics and treatment of porphyria.
The case for mild hyperhomocysteinaemia as a risk factor
Authors: Boers G. H. J. 
Published: December 2002

AbstractThe high incidence of vascular complications in severe hyperhomocysteinaemia in homozygotes for cystathionine β‐synthase deficiency has focused attention upon homocysteine as an atherogenic and thrombophilic agent. For two decades there has been accumulating evidence of mild hyperhomocysteinaemia as risk factor of vascular disease. Pooled data on hundreds of coronary, cerebrovascular and peripheral arterial disease patients show that mild hyperhomocysteinaemia was detectable in about 20‐30%. In a recent meta‐analysis of 27 studies up to 1994, including about 4000 patients and as many controls, it is calculated that the summary odds ratio of elevated homocysteine levels was 1.7, with 95% confidence interval (CI) 1.5‐1.9, for coronary heart disease; it was 2.5, with 95% CI 2.0‐3.0, for cerebro‐vascular disease; and it was 6.8, with 95% CI 2.9‐15.8, for peripheral vascular disease. The relevance of this newly recognized risk factor will be demonstrated by the outcome of the European Comac study on ‘Hyperhomocysteinaemia and Vascular Disease’, a multicentre case‐control study on 800 vascular patients and 750 controls. Despite the selection for epidemiological reasons of a relatively low cut‐off level as the criterion for mild hyperhomocysteinaemia in this study ‐ the upper 20% of the distribution of control levels ‐ the relative risk of thus‐defined hyperhomocysteinaemia for arterial disease is about 2. This equals the relative risk of hypercholesterolaemia and of smoking; hypertension leads to a higher excess risk. The observed synergistic interaction between hyperhomocysteinaemia and hypertension and smoking may warrant a change in the now generally followed procedure of screening for hyperhomocysteinaemia only if conventional risk factors have not been detected in the patient. Those vascular patients with combined risk factors leading to synergism in their joint effect may profit most from homocysteine‐lowering intervention.
Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers
Authors: Summar M. L. 
Published: December 2002

AbstractDeficiency of the hepatic enzyme carbamoyl‐phosphate synthase I (CPSI), results in lethal or near‐lethal hyperammonaemia. As part of our work on CPSI deficiency we have explored the development of markers for prenatal diagnosis, and the determination of molecular defects resulting in CPSI deficiency. We have determined a set of highly informative microsatellite markers flanking the CPSI gene. We have found 14 mutations in individuals with CPSI deficiency. During our mutation studies, we have made extensive use of cell lines not normally expressing CPSI through amplification of ‘illegitimate’ transcripts. We summarize these findings and review our current understanding of this important enzyme.
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues
Authors: Degoul F. , François D. , Diry M. , Ponsot G. , Desguerre I. , Héron B. , Marsac C. , Moutard M.L. 
Published: December 2002

AbstractWe report an interesting case of a T8993G mutation in the muscle mtDNA of a 2‐year‐old girl who presented with myoclonia, developmental delay, increased lactate concentration in CSF and cerebral MRI abnormalities without retinopathy, suggesting an atypical form of Leigh syndrome. Search for mutant molecules in the blood and skin fibroblasts of the patient's healthy mother as well as in the blood of the also unaffected patient's sister was unsuccessful. This ‘sporadic’ case of 8993 mtDNA mutation may be due either to a de novo mutation arising during oogenesis (or early embryogenesis) or to a mutation pre‐existing in oocytes in a few mtDNA molecules and selected through a narrow bottleneck mechanism. Whatever the mechanism involved, this observation illustrates a complete shift of the mtDNA type in only one generation: from 0 to nearly 100% of mtDNA molecules with the T8993G mutation.
Progression of X‐linked adrenoleukodystrophy under interferon‐β therapy
Authors: Korenke G. C. , Christen H.‐J. , Kruse B. , Hunneman D. H. , Hanefeld F. 
Published: December 2002

AbstractThe cerebral phenotype of X‐linked adrenoleukodystrophy (ALD) is a rapidly progressive neurodegenerative disorder characterized by a cerebral inflammatory response and elevated very long‐chain fatty acids (VLCFA). Interferon‐β (INFB) is known to suppress the synthesis of tumour necrosis factor α and interferon‐γ, which have been reported to be elevated in the margin of the areas of demyelination in ALD brains. We report on treatment with interferon‐β in 8 patients with cerebral ALD, who additionally received glycerol trioleate/glycerol trierucate. INFB‐1a (Rebif, Serono, Switzerland) was given subcutaneously once a week, 3 million units for the first 3 months and 6 million units for the next 9 months. All patients showed an unimpeded progression of neurological symptoms during INFB therapy. Therapy was stopped within 6 months in 4 patients because of the fast neurological deterioration with loss of walking. In all patients the MRI demonstrated a progression of demyelination with a qualitatively unchanged gadolinium enhancement. Further studies are needed to elucidate the pathomechanism of demyelination in ALD in order to find an effective therapy for cerebral ALD patients.
Aspartylglucosaminuria among Palestinian Arabs
Authors: Zlotogora J. , Ben‐Neriah Z. , Abu‐Libdeh B. Y. , Zeigler M. 
Published: December 2002

AbstractAspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase (AGA). AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect. While very few patients with AGU have been reported from non‐Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. The clinical diagnosis of AGU is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years. However, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography.
Folate‐responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)
Authors: Fowler B. , Schutgens R.B.H. , Rosenblatt D.S. , Smit G.P.A. , Lindemans J. 
Published: December 2002

AbstractThis first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for 17 years. Before treatment, major findings were microcephaly, psychomotor retardation, episodic reduced consciousness, megaloblastic anaemia, increased plasma free homocystine (> 20 µmol/L), low plasma methionine (< 10 µmol/L) and increased excretion of formiminoglutamate. On high‐dose folic acid, biochemical abnormalities such as formiminoglutamate excretion and homocystinuria nearly normalized, but clinical and haematological abnormalities remained. On replacement of folate with methylcobalamin, alertness, motor function, speech and the electroencephalogram improved, biochemical features were similar, but the mean corpuscular volume increased. The best control was observed on a combination of folate and methylcobalamin. At 17 years of age she remains severely mentally retarded.In cultured fibroblasts methionine synthesis was reduced (0.03 nmol/mg/per 16h, controls 2.4‐6.9); methionine synthase activity was normal under high reducing conditions but decreased on limiting the reducing agent, dithiothreitol, to 5 mmol/L (18% of total, controls 51‐81%); formation of methylcobalamin was low (4.5% of total cobalamins, control 57.5%) and complementation studies indicated the cblE defect. Methionine formation showed only minor increases in cells grown in folate‐ or cobalamin‐supplemented medium. Serine synthesis, which was low in normal medium, increased with cobalamin supplementation. These studies suggest further heterogeneity within cblE mutants, show the difficulty of establishing the enzyme defect in vitro, and indicate a role for folate in addition to cobalamin in treatment.
Putative mechanisms for vascular damage by homocysteine
Authors: Bellamy M. F. , McDowell I. F. W. 
Published: December 2002

AbstractIn homocystinuria homocysteine appears to be directly toxic to the vasculature, but in mild hyperhomocysteinaemia a cause and effect relationship remains unproven. Evidence for a causal role is derived from recent primate and human studies in which endothelial dysfunction was produced by modestly elevated blood homocysteine concentrations. Endothelial dysfunction would account for an increased risk of both arterial and venous disease. A key abnormality may be impaired release and/or action of nitric oxide in response to flow. Other possible mechanisms include smooth muscle cell proliferation, extracellular matrix modification and lipoprotein oxidation. Although demonstrated in vitro, a role for lipoprotein oxidation in man has not been substantiated. However an effect of homocysteine on cellular redox status remains a possible mechanism. Homocysteine does not appear to alter circulating coagulation factors consistently, but may promote enhanced thrombin production indirectly by its effects on endothelium. Further studies are required to elucidate the pathological actions of homocysteine, concentrating on the effects of mild hyper‐homocysteinaemia on endothelial function in man.
A case of the carbohydrate‐deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity
Authors: Charlwood J. , Clayton P. , Johnson A. , Keir G. , Mian N. , Winchester B. 
Published: December 2002

AbstractThe carbohydrate‐deficient glycoprotein syndrome (CDGS) is a group of disorders characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. It has been classified into four forms on the basis of the isoelectric focusing pattern of serum transferrin and differences in clinical presentation. A deficiency of phosphomannomutase (PMM) has been reported in most patients with type 1. Seven of our eight CDGS patients, classified clinically as type 1, were shown to have a deficiency of phosphomannomutase in their fibroblast or lymphoblastoid cells (0.04‐0.2 nmol/min per mg, compared with a control range of 1.0‐2.1 nmol/min per mg). The eighth patient, who had many clinical features of the severe neonatal form of CDGS type 1, but lacked definite signs of CNS and ocular involvement, had a normal phosphomannomutase activity in his fibroblasts. There were approximately equal amounts of disialo‐ and tetrasialotransferrin and only a trace amount of asialotransferrin in the serum and ascitic fluid of this patient. The disialo‐ and tetrasialotransferrin isoforms were purified by ion‐exchange chromatography and analysed by SDS‐PAGE. The disialotransferrin had a lower molecular mass than the tetrasialotransferrin, consistent with the absence of an N‐linked glycan. The N‐linked glycans released enzymically from both isoforms consisted exclusively of disialylated biantennary chains, suggesting that disialotransferrin results from underglycosylation, as in the PMM‐deficient CDGS type 1 patients. It is concluded that the clinical and biochemical phenotype in CDGS type 1 can result from more than one basic defect.