bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of novel single‐nucleotide polymorphisms (SNPs) in the CYP21 gene and association analysis of two SNPs for CYP21 and ESR2 with litter size in a commercial sow population
Authors: Buske B. , Sternstein I. , Reißmann M. , Brockmann G. 
Published: September 2006

SummaryAltogether 129 F1 sows from a commercial sow farm with at least four litters were genotyped for the oestrogen receptor 2 gene (ESR2) and cytochrome P450 hydroxylase 21 gene (CYP21) and investigated for associations on the litter‐size parameters: total number born and number born alive. Five novel polymorphisms were found in the 3′‐untranslated region for the CYP21 gene. Genotype and allele frequencies for the CYP21 (position 3462G > A) single‐nucleotide polymorphism (SNP) were 0.434 (GG), 0.504 (AG), 0.062 (AA) and 0.69 (G):0.31 (A), respectively. No association was found between this polymorphism and litter‐size parameters. For the ESR2 gene, the SNP in exon 5 associated with an amino acid substitution MET (allele A) > VAL (allele G) was investigated. Only two genotypes were found leading to allele frequencies of 0.34 (A):0.66 (G). Only number born alive piglets were significantly increased for the AG genotype (p = 0.034) with 11.64 piglets per sow and litter in comparison with the GG genotype, leading to only 10.96 piglets per sow and litter. From these data, it can be concluded that the investigated SNP of the ESR2 gene is associated with the number of liveborn piglets in the commercial population considered, and hence could be useful in selection for litter size. Therefore, this gene should be investigated in additional populations.
A new, broad‐spectrum azole antifungal: posaconazole – mechanisms of action and resistance, spectrum of activity
Authors: Hof H. 
Published: September 2006

SummaryPosaconazole, a new triazole antifungal, exerts principally the same mechanism of action as the other azole derivatives, i.e. it inhibits the ergosterol production by binding and inhibiting the lanosterol‐14α‐demethylase which is present in almost all fungi except Pneumocystis and Pythium. Posaconazole has an exquisitely high affinity to this target. Since posaconazole has a chemical structure different from fluconazole and voriconazole, it can interact with an additional domain of the target so that it may inhibit even mutated strains resistant to fluconazole and voriconazole. In addition posaconazole is a bad substrate for efflux pumps in fungi, so it can stay active when other azoles are already inactive. Furthermore, the spectrum of posaconazole is rather large including also some zygomycetes resistant to other azoles. In conclusion, posaconazole is actually the most potent azole derivative used in medicine. A combination of posaconazole with other groups of antifungals may have a favourable effect. There are several methods to test the in vitro activities of posaconazole including the E‐test, though interpretive breakpoints are still lacking.
Salvage Therapy of Refractory Chronic Disseminated Candidiasis in a Patient with Acute Myeloid Leukaemia and Secondary Prophylaxis During Allogeneic Stem Cell Transplantation
Authors: Vehreschild Jörg J. , Krüger Karsten , Kurzai Oliver , Wickenhauser Claudia , Behringer Karolin , Töx Ulrich , Cornely Oliver A. 
Published: September 2006

SummaryWe report on the treatment course of a 27‐year‐old male patient with acute myeloid leukaemia M1 and chronic disseminated candidiasis. After induction chemotherapy, the patient developed oesophageal candidiasis while participating in a voriconazole vs. placebo prophylaxis trial. He was then switched to oral fluconazole 400 mg q.i.d. After 6 days of futile fluconazole therapy he was switched to caspofungin 50 mg q.i.d. Caspofungin dose was later increased to 100 mg q.i.d after disseminated candidiasis with involvement of lung, spleen and liver was diagnosed. Following 63 days of caspofungin without resolution of symptoms, i.e. being persistently febrile, and emergence of soft tissue Candida abscesses, he was included into a trial allowing compassionate use of posaconazole as salvage therapy for refractory invasive fungal infections. Symptoms rapidly resolved under posaconazole 200 mg q.i.d. treatment and the patient was able to undergo allogeneic haematopoietic stem cell transplantation on secondary prophylaxis with posaconazole.
Infective colitis associated with human intestinal spirochetosis
Authors: Calderaro Adriana , Bommezzadri Simona , Gorrini Chiara , Piccolo Giovanna , Peruzzi Simona , Villanacci Vincenzo , Zambelli Claudia , Dettori Giuseppe , Chezzi Carlo 
Published: September 2006

AbstractAim:  Our study reports the detection and identification of intestinal spirochetosis in patients with colonic diseases in a tertiary‐care hospital over a 12‐year period, and includes a description of all cases we diagnosed.Methods:  Our patients (8323) underwent colonoscopy and histopathological examinations including transmission electron microscopy (TEM) and light microscopy. Specimens from patients suspected of intestinal spirochetosis at histopathology (17 patients) underwent microbiological investigation performed by culture and molecular methods (16S restriction fragment length polymorphism‐polymerase chain reaction [RFLP‐PCR], nox RFLP‐PCR assays).Results:  Seventeen cases were diagnosed: seven patients were infected by B. aalborgi, one by B. pilosicoli, two by both species and four by Brachyspira spp. diagnosed both histopathology and microbiology (culture and molecular methods: 16S RFLP‐PCR and nox RFLP‐PCR assays). Three cases were referred to as Brachyspira spp. infections using only histopathology, including TEM.Conclusions:  Our results demonstrated that intestinal spirochetosis, although rarely occurring, might play a role in chronic diarrhea and suggested a pathogenetic mechanism of intestinal spirochetosis based on the destruction of colonic microvilli and colitis histologically documented, providing additional clinical and pathological information on this entity. This study suggests that metronidazole seems to be the drug of choice for the eradication of intestinal spirochetosis.
Intravenous frusemide for transient tachypnoea of the newborn: A randomised controlled trial
Authors: Karabayir Nalan , Kavuncuoglu Sultan 
Published: September 2006

Aim:  To investigate the effect of intravenous frusemide on the course of transient tachypnoea of the newborn (TTN).Methods:  Fifty term infant with TTN were randomised at the time of diagnosis to receive either intravenous frusemide 2 mg/kg or saline placebo. Outcomes assessed included duration of supplemental oxygen requirement, the period of tachypnoea, time to discharge from hospital and weight loss in the first 24 h of life and before discharge.Results:  The two groups were similar with respect to sex, birthweight, mode of delivery and age at presentation. The study group lost significantly more weight in the first 24 h after birth. There were no significant differences between the two groups in the duration of oxygen requirements, the period of tachypnoea and the time to hospital discharge.Conclusion:  A single dose of intravenous frusemide (2 mg/kg) does not improve the clinical course of TTN. This finding suggests that either frusemide is not effective in promoting resorption of lung fluid or factors other than delayed resorption of this fluid contribute to the pathogenesis of TTN.
Reticulons RTN3 and RTN4‐B/C interact with BACE1 and inhibit its ability to produce amyloid β‐protein
Authors: Murayama Kiyoko S. , Kametani Fuyuki , Saito Shinya , Kume Hideaki , Akiyama Haruhiko , Araki Wataru 
Published: September 2006

Abstractβ‐Secretase β‐site APP cleaving enzyme 1 (BACE1), is a membrane‐bound aspartyl protease necessary for the generation of amyloid β‐protein (Aβ), which accumulates in the brains of individuals with Alzheimer's disease (AD). To gain insight into the mechanisms by which BACE1 activity is regulated, we used proteomic methods to search for BACE1‐interacting proteins in human neuroblastoma SH‐SY5Y cells, which overexpress BACE1. We identified reticulon 4‐B (RTN4‐B; Nogo‐B) as a BACE1‐associated membrane protein. Co‐immunoprecipitation experiments confirmed a physical association between BACE1 and RTN4‐B, RTN4‐C (the shortest isoform of RTN‐4), and their homologue reticulon 3 (RTN3), both in SH‐SY5Y cells and in transfected human embryonic kidney (HEK) 293 cells. Overexpression of these reticulons (RTNs) resulted in a 30–50% reduction in the secretion of both Aβ40 and Aβ42 from HEK293 cells expressing the AD‐associated Swedish mutant amyloid precursor protein (APP), but did not affect Aβ secretion from cells expressing the APP β‐C‐terminal fragment (β‐CTF), indicating that these RTNs can inhibit BACE1 activity. Furthermore, a BACE1 mutant lacking most of the N‐terminal ectodomain also interacted with these RTNs, suggesting that the transmembrane region of BACE1 is critical for the interaction. We also observed a similar interaction between these RTNs and the BACE1 homologue BACE2. Because RTN3 and RTN4‐B/C are substantially expressed in neural tissues, our findings suggest that they play important roles in the regulation of BACE1 function and Aβ production in the brain.
P2Y receptor‐mediated excitation in the posterior hypothalamus
Authors: Sergeeva Olga A. , Klyuch Boris P. , Fleischer Wiebke , Eriksson Krister S. , Korotkova Tatiana M. , Siebler Mario , Haas Helmut L. 
Published: September 2006

AbstractHistaminergic neurons located in the posterior hypothalamus (tuberomamillary nucleus, TMN) project widely through the whole brain controlling arousal and attention. They are tonically active during wakefulness but cease firing during sleep. As a homeostatic theory of sleep involves ATP depletion and adenosine accumulation in the brain, we investigated the role of ATP and its analogues as well as adenosine on neuronal activity in the TMN. We show increased firing of rat TMN neurons by ATP, ADP, UTP and 2meSATP, indicating activation of receptors belonging to the P2Y family. Adenosine affected neither membrane potential nor firing of these cells. Single‐cell reverse transcriptase‐polymerase chain reaction revealed that P2Y1 and P2Y4 are prevailing receptors in TMN neurons. P2Y1 receptor mRNA was detected with a higher frequency in 2‐week‐old than in 4‐week‐old rats; in accordance, 2meSATP was more potent than ATP. Semi‐quantitative real‐time polymerase chain reaction revealed a developmental downregulation of mRNA levels for P2Y1 and P2Y4 receptors. Immunocytochemistry demonstrated neuronal and glial localization of the P2Y1 receptor protein. Network activity measured with multielectrode arrays in primary cultures made from the posterior hypothalamus was enhanced by UTP and 2meSATP (P2Y4 and P2Y1 agonists, respectively). ATP caused an inhibition of firing, which was reversed in the presence of suramin or gabazine [γ‐aminobutyric acid (GABA)A receptor antagonist], indicating that GABAergic neurons are preferentially activated by ATP in this network. Excitation of the wake‐active TMN neurons by nucleotides and the lack of adenosine action may be important factors in sleep–wake regulation.
A systematic review of the reliability of frequency‐volume charts in urological research and its implications for the optimum chart duration
Authors: Yap Tet L. , Cromwell David C. , Emberton Mark 
Published: September 2006

There are four reviews in this section; two of these relate to prostate cancer, one to paediatric urology, and one to bladder function. The prostate cancer mini‐reviews concern two important areas that are talking points in urological oncology. Multidisciplinary team management, which is a very attractive idea to many, remains controversial in the eyes of some. This concept is discussed in detail, as is another controversial idea, the use of high‐intensity focused ultrasound in the treatment of prostate cancer.OBJECTIVETo determine how the reliability of frequency‐volume charts (FVCs) vary with their duration when used to assess patients with lower urinary tract symptoms (LUTS) and whether the duration influences patient compliance.METHODSPeer‐reviewed studies involving patients with LUTS were searched systematically, with the selected studies assessed for their internal and external validity and statistical quality. Details of the patients and type of FVC used were summarized, and reliability coefficients and levels of compliance were extracted for commonly assessed FVC variables.RESULTSIn all, 13 studies were considered to meet the review criteria; they assessed the reliability of FVCs lasting 1, 2, 3 and 7 days. The reliability coefficients for 3‐ and 7‐day FVCs were generally >0.8; those for shorter charts tended to be lower, but strong conclusions could not be drawn due to study limitations. There was no obvious relationship between the duration of the FVC and the level of compliance.CONCLUSIONSStrong recommendations cannot be made about what duration of an FVC should be used to assess or monitor patients with LUTS. The current consensus on using FVCs of ≥ 3 days seems to be the most defensible policy, but more research of high quality is required, especially into the relationship of FVC duration with compliance.
Medium‐term experience of sacral neuromodulation by tined lead implantation
Authors: VAN VOSKUILEN ANCO C. , OERLEMANS DENNIS J.A.J. , WEIL ERNEST H.J. , VAN DEN HOMBERGH UBI , VAN KERREBROECK PHILIP E.V.A. 
Published: September 2006

OBJECTIVETo describe patient selection for sacral neuromodulation, also known as Interstim therapy, and the results of tined‐lead implantation in the medium term.PATIENTS AND METHODSIn all, 49 patients, 39 with refractory overactive bladder symptoms and 10 with urinary retention, were implanted with the tined lead under local anaesthesia. The mean (sd) test period was 12.4 (5.8) days. Patients were implanted when they had a ≥ 50% improvement in voiding diary variables during the test period. The mean follow‐up for implanted patients was 15.5 (7.9) months. Changes in voiding variables were compared using a t‐test.RESULTSTen patients had a one‐stage and 39 a two‐stage implant; of the latter group, 31 (80%) had a positive response and eight (21%) did not. In all, 31 patients were included in the follow‐up. At the last follow‐up, 28 (90%) patients had a >50% improvement in diary variables and three (10%) did not. In 21 patients with urgency symptoms the mean (sd) number of voids decreased from 11.7 (8.9)/day at baseline to 7.3 (3.4)/day (P = 0.1); the voided volume increased from 160.2 (70.7) mL to 231.1 (119.5) mL (P = 0.001); and the number of leakages decreased from 9.5 (8.7) to 3.3 (2.2)/day (P = 0.17). In the 10 patients with retention, the number of catheterizations decreased from 5.44 (1.6)/day with a volume of 297.6 (76.8) mL, to 1.2 (1.7)/day and 111.6 (158.1) mL; the mean number of voids increased from 3.7 (3.8)/day with a volume of 123.3 (141.7) mL, to 4.2 (2.4)/day and 248.3 (146.0)mL. There were no significant differences in the variables in the patients with retention. Seven patients had an adverse event. There was one incomplete electrode migration that was treated conservatively.CONCLUSIONThis new minimally invasive approach gives positive results in the medium term. Two‐stage testing with the tined lead seems more reliable than the classic percutaneous nerve evaluation. The lead anchoring method seems sufficient for fixing the electrode in the medium term.
Measuring Marker Information Content by the Ambiguity of Block Boundaries Observed in Dense SNP Data
Authors: Gu C. Charles , Yu Kai , Boerwinkle Eric 
Published: September 2006

SummaryRecent studies have noted that the boundary of common haplotype blocks in hapmap constructions involve a certain degree of ambiguity, and so do the resulting “tagSNPs”. Here, we report how to address this issue at the level of individual SNP markers. We introduce a measure called the marker ambiguity score (MAS), and evaluate its utility by simulation studies based on a real dataset of 2949 SNPs spanning a region of 56.1M bp. We show that the MAS method can be used to assess the level of boundary ambiguity caused by varying ethnic background, sample sizes for hapmap construction, and disease aggregation. We find a striking difference in overall patterns of block boundary distributions in two ethnic groups (blacks and whites), and subtle changes in block structures that agree with the evolutionary history of the two populations. Our analyses suggest that a sample size of 200 or more subjects is probably needed for “stable” hapmap constructions. In addition, we demonstrate that there are subtle changes in block boundaries in hapmaps constructed in disease populations versus normal controls. This approach can quantify the information content of individual markers in the context of highly dense SNP data, which may have important implications in designing efficient genome‐wide association mapping projects.
Fifteen microsatellite loci characterized in the golden eagle Aquila chrysaetos (Accipitridae, Aves)
Authors: BOURKE BRIAN P. , DAWSON DEBORAH A. 
Published: September 2006

AbstractPolymorphic microsatellite loci were identified in order to study golden eagle (Aquila chrysaetos) population fragmentation. Twenty‐six published Aquila and eight published Haliaeetus microsatellite loci were tested for polymorphism in A. chrysaetos. Fifteen loci were polymorphic with between two and six alleles detected per locus. Observed heterozygosity ranged from 0.15 to 0.77 among 177 unrelated individuals from Scotland. There was no evidence for null alleles. Two pairs of loci (Hal‐10 & Aa15 and Hal‐10 & Aa26) displayed linkage disequilibrium.
Laser removal of pigmented and vascular lesions
Authors: Goldberg David J 
Published: September 2006

SummaryTwenty years of laser dermatology has resulted in current technology which allows variable spot sizes, different wavelengths, and a variety of effective cooling devices. These developments have made the treatment of cutaneous pigmented and vascular lesions safe and efficacious by targeting selected chromophores while minimizing damage to the surrounding tissue. Vascular lesions are targeted by a variety of wavelength lasers including the KTP (532 nm), pulsed dye (585–595 nm), and the Nd:YAG (1064 nm) laser systems. Pigmented lesions may be treated with a wide variety of lasers due to the broad absorption spectrum of melanin. Intense pulsed light (IPL), with its widely adjustable parameters, has established itself as a useful adjunctive for the treatment of a variety of pigmented and vascular lesions. The purpose of this review article is to present the current treatment options for the common aesthetic complaints of pigmented and vascular lesions.
Clinical experience and safety using phosphatidylcholine injections for the localized reduction of subcutaneous fat: a multicentre, retrospective UK study
Authors: Palmer Mark , Curran John , Bowler Patrick 
Published: September 2006

SummaryBackground  Phosphatidylcholine has been in safe use for over 30 years. Subcutaneous injections of phosphatidylcholine have now become used internationally for localized subcutaneous fat reduction on the face and body, but concerns about the safety of this treatment have arisen.Aims  To assess retrospectively treatment outcomes and adverse effects associated with subcutaneous phosphatidylcholine use.Patients and methods  Thirty‐nine UK doctors specifically trained and experienced in this treatment completed questionnaires, focusing on outcome and adverse effects experienced by patients.Results  Ten thousand five hundred and eighty‐one treatments had been administered over a mean duration of 13.1 months. Localized adverse effects (swelling, erythema, burning/stinging, pain, tenderness and bruising) were described by most patients as “very mild’ (18.4%) or “mild” (39.2%). The total incidence of systemic side‐effects was 3%: diarrhoea, nausea, dizziness/light‐headedness and intermenstrual bleeding were described by most patients as “very mild” (36%) or “mild” (55%). Only 15 (0.14%) “unexpected, unusually severe or prolonged” adverse reactions (commonly pain and/or swelling) were reported. These were all self‐limiting and none were judged as serious. 73.8% of patients were either “very satisfied” or “satisfied” with treatment.Conclusions  This treatment appears to be associated with minimal risks when used by specifically trained and experienced doctors. The possible risks associated with this treatment should be balanced against the risks of other treatment options.
Psychopathology and Epilepsy: Is it the Chicken or the Egg?
Authors: Kanner Andres M. 
Published: September 2006

Depression and Attempted Suicide as Risk Factors for Incident Unprovoked Seizures and Epilepsy Hesdorffer DC, Hauser WA, Olaffson E, Ludvigsson P, Kjartansson O Ann Neurol 2006;59:35–41. Major depression has been shown to increase the risk for development of epilepsy, but prior studies have not evaluated whether this is due to specific symptoms of depression. We conducted a population-based case-control study of all newly diagnosed unprovoked seizures among Icelandic children and adults aged 10 years and older to test the hypothesis that major depression is a risk factor for developing unprovoked seizure and epilepsy, and to address whether specific symptoms of depression account for this increased risk. Cases were matched to the next two same sex births from the population registry. Using standardized interviews, we ascertained symptoms of major depression to make a Diagnostic and Statistical Manual, Fourth Edition (DSM-IV) diagnosis. A history of major depression was 1.7-fold more common among cases than among controls (95% confidence interval, 1.1–2.7). A history of attempted suicide was 5.1-fold more common among cases than among controls (95% confidence interval, 2.2–11.5). Attempted suicide increased seizure risk even after adjusting for age, sex, cumulative alcohol intake, and major depression or number of symptoms of depression. Major depression and attempted suicide independently increase the risk for unprovoked seizure. These data suggest that depression and suicide attempt may be due to different underlying neurochemical pathways, each of which is important in the development of epilepsy.
Supercalifragilistic Hemosiderosis: A Rare and Unusual Complication that Really Sounds Atrocious …
Authors: Schwartz Theodore H. 
Published: September 2006

Anatomical Hemispherectomy for Intractable Seizures: Excellent Seizure Control, Low Morbidity and No Superficial Cerebral Haemosiderosis O'Brien DF, Basu S, Williams DH, May PL Childs Nerv Syst 2006;22:489–498. Objective This current study was performed to evaluate whether superficial cerebral hemosiderosis (SCH) is still a complication of modern day anatomical hemispherectomy. Methods We report a 13-year institutional experience with anatomical hemispherectomy for intractable epilepsy. Seizure control at a mean follow-up interval of 7 years was 83%. Though one patient died post-operatively from a nonneurosurgical complication, mortality was otherwise zero and morbidity minimal. The much-described complication of SCH following anatomical hemispherectomy was nonexistent. We explain the history of SCH as a complication of anatomical hemispherectomy, and the measures that are presently taken to prevent it. Conclusions We suggest that the importance of SCH in modern epilepsy surgery is probably over-emphasized.