bluuebunny/crossref_metadata_2025_split huggingface dataset:
Recombinant activated factor VII safety and efficacy in the treatment of cranial haemorrhage in patients with congenital haemophilia with inhibitors: an analysis of the Hemophilia and Thrombosis Research Society Registry (2004–2008)
Authors: NAKAR C. , COOPER D. L. , DiMICHELE D. 
Published: February 2010

Summary.  Cranial haemorrhage (CH) is a potentially serious complication in patients with severe congenital haemophilia with inhibitors (CHwI). Treatment includes bypassing agents, such as recombinant activated factor VII (rFVIIa). To examine the US experience in treating CH with rFVIIa, a retrospective review of the Hemophilia and Thrombosis Research Society 2004–2008 database was conducted. Among 29 patients with CHwI, 56 of the reported haemorrhages met the study criteria. Of these, 75% were traumatic and 80% were extracranial (ECH). The majority (8/11, 73%) of intracranial haemorrhages (ICHs) developed spontaneously. Conversely, most ECHs (39/45, 87%) followed trauma. ICHs were treated with a median/mean of 23/58 rFVIIa infusions over a median/mean of 7/9 days while ECHs were treated with a median/mean of 1/3 infusions (P = 0.011) over a median/mean of 1/1 day. The median/mean initial rFVIIa doses for all CHs were 106/137 μg kg−1, and were similar for ICHs and ECHs. All ECHs were effectively controlled with rFVIIa; 44/45 bleeds were controlled  within 24 h, one bleed was successfully treated perioperatively, and 27 ECHs required only a single dose. Nine out of 11 ICHs were effectively treated with rFVIIa; six ICHs were controlled within 24 h, one within 72 h and in two cases haemostasis was achieved during the perioperative period. No serious treatment‐associated adverse events were reported. One patient died as a result of ICH despite the reported control of bleeding. In conclusion, standard dosing of rFVIIa was found to be safe and effective in treating CH with an efficacy rate of 100% for ECH and 82% for ICH.
Combining environmental gradients to explain and predict the structure of demersal fish distributions
Authors: Chatfield Brenton S. , Van Niel Kimberly P. , Kendrick Gary A. , Harvey Euan S. 
Published: February 2010

AbstractAim  Species distribution modelling was used to investigate relationships between benthic environmental variables and patterns of demersal fish species distributions using fish occurrence data collected from spatially sparse point sampling. Our goals were to determine: (1) the relative importance of different environmental variables, (2) whether accurate predictions can be developed from these models, and (3) how a comparison of the models against known species ecology can be used to assess model relevance and to provide further insights that could drive future studies of these species.Location  The Recherche Archipelago, southern Western Australia.Methods  Fish distribution data were collected using baited remote underwater video systems (BRUVS): environmental characteristics (substrate type, macroalgal type and presence of sessile biota) were derived from the video footage; and water depth was measured with a depth sounder. Two species distribution modelling techniques were used to explore and quantify the contribution of environmental characteristics to distribution models of 10 temperate marine fish species.Results  Substrate type (reef, sand, cobble) was the most influential variable, and water depth and macroalgal type influenced the probable occurrence of species even over the same substrate type. The probable occurrences of all but one fish species were predicted very successfully, with observed presences being predicted correctly with accuracies > 76%. These predictions were possible due to strong associations between these species and benthic features recorded in this study (substrate type, depth and macroalgal type).Main conclusions  The results demonstrate that the combined influence of multiple environmental gradients must be considered to further develop our understanding of how the environment structures demersal fish distributions. The species distribution models not only agreed with the known ecology of the species examined in detail, but also provided more information on the strength of each environmental attribute and interactions between attributes. These interactions may have previously been misinterpreted as, for example, a depth‐driven response. Additional drivers of distribution that were previously not considered, such as the presence of macroalgae, were also found to have influence. This information thus provides a better description of a species’ niche, which is of value to both species management and conservation.
Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population
Authors: Sequeiros J , Ramos EM , Cerqueira J , Costa MC , Sousa A , Pinto‐Basto J , Alonso I 
Published: February 2010

Sequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto‐Basto J, Alonso I. Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.Large normal (‘intermediate’) alleles may produce de novo expansions in Huntington disease; nevertheless, there is very little evidence about their population prevalence and impact in daily practice, and there are conflicting reports about the extent of their instability. We estimated the frequency of large normal alleles (27–35 CAGs) and of reduced penetrance alleles (36–39 CAGs), as well as the frequency of genotypes carrying them, in (i) a diagnostic laboratory, (ii) a genetic counselling clinic and (iii) the general population. Large normal alleles were present in 6% of a large control sample, 7% of consultands who took pre‐symptomatic testing and 7% of samples in the laboratory. Reduced penetrance alleles were found in 1 of 1772 control chromosomes (0.1% of individuals), 5% of 146 pre‐symptomatic testees and over 2% of 1214 diagnostic samples (350 families). All 16 alleles sized 27–32 CAGs seemed to be transmitted stably; alleles ≥ 36 repeats were unstable in five families. Seven small full penetrance alleles contracted into the reduced penetrance range, but none into the large normal range. Evidence showed that large normal alleles are relatively frequent and that those with reduced penetrance are not a rare event, either at the laboratory or the clinic. This reinforces the need to understand the genomic context of repeat instability in each family and population.
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract
Authors: Dad S , Østergaard E , Thykjær T , Albrectsen A , Ravn K , Rosenberg T , Møller LB 
Published: February 2010

Dad S, Østergaard E, Thykjær T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3‐like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2‐23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non‐syndromic deafness locus DFNB48.
A new classification system for primary lymphatic dysplasias based on phenotype
Authors: Connell F , Brice G , Jeffery S , Keeley V , Mortimer P , Mansour S 
Published: February 2010

Connell F, Brice G, Jeffery S, Keeley V, Mortimer P, Mansour S. A new classification system for primary lymphatic dysplasias based on phenotype.Traditional classification systems for lymphoedema are of limited use for the diagnosis of specific forms of primary lymphoedema. The understanding of primary lymphoedema has been impeded by confusing terminology and a tendency to simply divide patients into three categories based on the age of onset: lymphoedema congenita manifests at or shortly after birth, lymphoedema praecox is apparent before the age of 35 years and lymphoedema tarda manifests thereafter. The clinical presentation in the spectrum of primary lymphoedema disorders is very variable; the phenotypes of primary lymphoedema conditions vary in the age of onset, site of the oedema, inheritance patterns, associated features and genetic causes. Different inheritance patterns are recognised and there are numerous associated anomalies. Some subgroups, such as Milroy disease and Lymphoedema distichiasis, are well characterised, but others are not.A new clinical classification for primary lymphoedema has been developed as a diagnostic algorithm. Its use is demonstrated on 333 probands referred to our lymphoedema clinic. Grouping patients by accurate phenotyping facilitates molecular investigations, understanding of inheritance patterns, and the natural history of different types of primary lymphoedema. Descriptions of the diagnostic categories, some of which have not been previously clearly defined as distinct clinical entities, are illustrated by clinical cases.
Mapping of quantitative trait loci/locus conferring resistance to foxtail mosaic virus in maize using the intermated B73 × Mo17 population
Authors: Ji Q. , Yang B. , Lee M. , Chen Y. , Lübberstedt T. 
Published: February 2010

With 2 tables AbstractFoxtail mosaic virus (FoMV) has been reported to have a broad range of hosts, including millet, sorghum, barley, and maize. FoMV‐H93, a new strain of FoMV which was isolated from sorghum in 1993, was used to inoculate the Intermated B73 × Mo17 (IBM) syn4 population for quantitative trait loci/locus (QTL) analysis. The parents of the IBM population, B73 and Mo17, are susceptible and resistant, respectively, to this virus isolate. A panel of 94 recombinant inbred lines was used as the mapping population in our study. Eight different QTL responsible for resistance at three different stages on chromosomes 1, 2, 3, 5 and 7 were detected. The QTL provide new resources in both maize and closely related crops such as sorghum for breeding resistant plants.
Male‐sterility systems in pigeonpea and their role in enhancing yield
Authors: Saxena K. B. , Sultana R. , Mallikarjuna N. , Saxena R. K. , Kumar R. V. , Sawargaonkar S. L. , Varshney R. K. 
Published: February 2010

With 1 figure and 4 tables AbstractMale‐sterility has been successfully used for enhancing yield in a number of cereal and vegetable crops. In food legumes, this technology could never be used either due to non‐availability of natural out‐crossing system, or an efficient male‐sterility system or both. Pigeonpea [Cajanus cajan (L.) Millsp.] is a partially cross‐pollinated food legume and recent success in breeding a stable male‐sterility system has allowed breeders to exploit hybrid vigour for increasing yields. The cytoplasmic‐nuclear male‐sterility (CMS)‐based hybrids have recorded 28.4% yield superiority over local checks in farmers’ fields. This paper besides summarizing the reports of all the genetic and CMS systems, also discusses the prospects of utilizing these male‐sterility systems in commercial hybrid breeding programmes.
Effect of combined cold pretreatment and heat shock on microspore cultures in broccoli
Authors: Yuan S. X. , Liu Y. M. , Fang Z. Y. , Yang L. M. , Zhuang M. , Zhang Y. Y. , Sun P. T. 
Published: February 2010

With 1 figure and 3 tables AbstractApplied stress is often used to induce embryogenesis in microspore culture. Cold pretreatment has been used in cereal crops, Brassica napus and Brassica rapa microspore cultures, but seldom attempted in Brassica oleracea microspore culture. In this study, the effect of cold pretreatment (4°C) on embryogenesis in microspore culture and ploidy of regenerants resulting from those cultures was investigated in three broccoli cultivars ‘Green Elite’, ‘Green Star’ and ‘TI‐111’. Cold pretreatment for 1, 2 or 3 days was effective when applied alone using these three cultivars, but the frequency of embryos derived from microspores was low. The combination of cold pretreatment (4°C) for 1 or 2 days and heat shock (32.5°C) for 1 day significantly enhanced microspore embryogenesis efficiency, especially with ‘TI‐111’ for which it was increased by 63–72‐fold. In addition, the combined treatment resulted in higher diploid frequency of the regenerated population compared to traditional microspore culture protocol which typical only uses heat shock at 32.5°C for 1 day in broccoli.
Acquired facial palsy with hypertension secondary to Guillain–Barre syndrome
Authors: Smith Nicholas , Grattan‐Smith Padraic , Andrews P Ian , Kainer Gad 
Published: February 2010

AbstractMost cases of facial nerve paresis are idiopathic (Bell's palsy). However, rare and potentially dangerous conditions may present in this manner. We report 2 children presenting with unilateral lower motor neuron facial nerve palsy and hypertension. A diagnosis of Guillain‐Barre syndrome was made in both; literature linking facial nerve palsy in childhood with hypertension and Guillain‐Barre syndrome is reviewed.
Clinical and pathological features of renal amyloidosis: An analysis of 32 patients in a single Chinese centre
Authors: QU ZHEN , ZHENG XIN , WANG SU‐XIA , AO JIE , ZHOU FU‐DE , CHEN MIN , LIU GANG 
Published: February 2010

ABSTRACT:Aim:  To summarize the clinical and pathological features of renal amyloidosis in order to achieve early diagnosis.Methods:  The clinical and pathological data of 32 patients with renal amyloidosis, diagnosed by renal biopsy in one renal centre, were retrospectively analyzed. Immunohistochemistry of amyloid A protein and immunoglobulin light chains was further performed on the renal specimens for further classification.Results:  Twenty‐four out of the 32 patients (75%) were not considered to have renal amyloidosis by local physicians; 91.7% (22/24) of them had at least one of the following signs: bodyweight loss, organ enlargement and decreased blood pressure. Twenty‐nine out of the 32 patients (90.6%) were over 40 years, 30 patients (93.8%) had nephrotic syndrome, and 21 patients (65.6%) were found to have monoclonal light chain in serum or urine by immunofixation. Six patients (18.8%) were negative by Congo red stain and were diagnosed as having early renal amyloidosis by electron microscopy. Twenty‐eight patients were diagnosed as having AL amyloidosis, two were suspected of having AL amyloidosis, one had AA amyloidosis and the status of the remaining patient was undetermined.Conclusion:  Renal amyloidosis is frequently neglected by local physicians in China. Middle‐aged nephrotic patients with weight loss, organ enlargement and monoclonal light chains in serum or urine should be highly suspected of the disease. Renal biopsies, especially electron microscopy, play a crucial role in the early diagnosis of renal amyloidosis.
Secondhand smoke exposure alters K+ channel function and intrinsic cell excitability in a subset of second‐order airway neurons in the nucleus tractus solitarius of young guinea pigs
Authors: Sekizawa Shin‐ichi , Joad Jesse P. , Pinkerton Kent E. , Bonham Ann C. 
Published: February 2010

AbstractExtended exposure to secondhand smoke (SHS) in infants and young children increases the incidence of cough, wheeze, airway hyper‐reactivity and the prevalence and earlier onset of asthma. The adverse effects may result from environmentally‐induced plasticity in the neural network regulating cough and airway function. Using whole‐cell patch‐clamp recordings in brainstem slices containing anatomically identified second‐order lung afferent neurons in the nucleus tractus solitarius (NTS), we determined the effects of extended SHS exposure in young guinea pigs for a duration equivalent to human childhood on the intrinsic excitability of NTS neurons. SHS exposure resulted in marked decreases in the intrinsic excitability of a subset of lung afferent second‐order NTS neurons. The neurons exhibited a decreased spiking capacity, prolonged action potential duration, reduced afterhyperpolarization, decrease in peak and steady‐state outward currents, and membrane depolarization. SHS exposure effects were mimicked by low concentrations of the K+ channel blockers 4‐aminopyridine and/or tetraethyl ammonium. The data suggest that SHS exposure downregulates K+ channel function in a subset of NTS neurons, resulting in reduced cell excitability. The changes may help to explain the exaggerated neural reflex responses in children exposed to SHS.
Attention modulates beta oscillations during prolonged tactile stimulation
Authors: Bardouille T. , Picton T. W. , Ross B. 
Published: February 2010

AbstractThe inter‐play between changes in beta‐band (14–30‐Hz) cortical rhythms and attention during somatosensation informs us about where and when relevant processes occur in the brain. As such, we investigated the effects of attention on somatosensory evoked and induced responses using vibrotactile stimulation and magnetoencephalographic recording. Subjects received trains of vibration at 23 Hz to the right index finger while watching a movie and ignoring the somatosensory stimuli or paying attention to the stimuli to detect a change in the duration of the stimulus. The amplitude of the evoked 23‐Hz steady‐state response in the contralateral primary somatosensory cortex (SI) was enhanced by attention and the underlying dipole source was located 2 mm more medially, indicating top‐down recruitment of additional neuronal populations for the functionally relevant stimulus. Attentional modulation of the somatosensory evoked response indicates facilitation of early processing of the tactile stimulus. Beta‐band activity increased after vibration offset in the contralateral primary motor cortex (MI) [event‐related synchronization (ERS)] and this increase was larger for attended than ignored stimuli. Beta‐band activity decreased in the ipsilateral SI prior to stimulus offset [event‐related desynchronization (ERD)] for attended stimuli only. Whereas attention modulation of the evoked response was confined to the contralateral SI, event‐related changes of beta‐band activity involved contralateral SI–MI and inter‐hemispheric SI–SI connections. Modulation of neural activity in such a large sensorimotor network indicates a role for beta activity in higher‐order processing.
Natural history and long‐term testicular growth of acquired undescended testis after spontaneous descent or pubertal orchidopexy
Authors: Hack Wilfried W.M. , Van Der Voort‐Doedens Laszla M. , Goede Joery , Van Dijk Joke M. , Meijer Rob W. , Sijstermans Karlijn 
Published: February 2010

Study Type – Prognosis (retrospective cohort) Level of Evidence 2bOBJECTIVETo assess prospectively the natural history and long‐term testicular growth of acquired undescended testis (UDT) after spontaneous descent or pubertal orchidopexy in case of nondescent.PATIENTS AND METHODSFrom 1996 until 2008, 391 boys with 464 acquired UDT were included in the study. In accordance with Dutch consensus on non‐scrotal testes, spontaneous descent at puberty was awaited; if this did not take place, orchidopexy was performed at puberty. Acquired UDT was defined as a testis previously residing in the scrotum that can no longer be manipulated into a stable scrotal (high scrotal) or nonscrotal (inguinal, impalpable) position. After referral, testis position, testis volume and puberty stage were monitored annually until adolescence. Testis volume was assessed using an orchidometer and compared with the Dutch standard. All investigations were carried out by the same physician (W.H.). Of these boys, 84 (mean age 12.9 years, range 6.4–21.3) were also clinically assessed by a second physician (J.G.), unaware of the results of the first examination. In addition, these boys were assessed with testicular ultrasonography, carried out by both physicians.RESULTSCurrently the mean (range) follow‐up is 4.7 (0.1–12.0) years, and 253 acquired UDT have reached the scrotum. In 196 of these 253 cases (77.5%), there was spontaneous descent at puberty (mean age at descent 12.9 years, range 9.8–16.9); in the other 57 cases (22.5%), pubertal orchidopexy was required due to nondescent; five cases required orchidectomy. Of the 494 testis volume measurements after spontaneous descent, 458 (92.7%) were at ≥10th centile for age, of which 311 (63.0%) were ≥50th centile, and 107 (21.7%) ≥90th centile. After pubertal orchidopexy for nondescent, of the 85 measurements, 79 (92.9%) were at ≥10th centile, 53 (62.4%) ≥50th centile and 12 (14.1%) ≥90th centile. In unilateral cases, after spontaneous descent 174 of the 294 (59.2%) retained testes were found to be smaller than their counterpart and 90 of 294 (30.6%) were equal in size. After pubertal orchidopexy in unilateral cases, 40 of the 51 (78.4%) testes were smaller, and nine (17.6%) were equal in size. There was a strong correlation between both investigators for the measurement of testicular volume by orchidometer, and for the main investigator (W.H.) between his measurements by ultrasonography and the Prader orchidometer.CONCLUSIONAcquired UDT has a 77.5% tendency of spontaneous descent at puberty. In nearly all cases, after spontaneous descent as well as after pubertal orchidopexy, long‐term testicular growth is within the normal range.
Racial and ethnic variation in health resource use and cost for prostate cancer
Authors: Jayadevappa Ravishankar , Malkowicz S. Bruce , Chhatre Sumedha , Gallo Joseph , Schwartz J. Sanford 
Published: February 2010

Study Type – Health economics (resource use) Level of Evidence 2bOBJECTIVETo analyse the racial and ethnic variation in health resource use (HRU) and direct medical care (DMC) cost in elderly men with prostate cancer.PATIENTS AND METHODSThis was a retrospective case‐control study using the linked Surveillance, Epidemiology, and End Results Medicare database. Patients with prostate cancer diagnosed between 1995 and 1998 (50 147 men) were identified and followed retrospectively for 1 year before and 5 years after the diagnosis. Phase‐specific HRU and DMC costs were compared between racial and ethnic groups using parametric and nonparametric analysis. To compute the incremental cost of prostate cancer, a matched non‐cancer control group was extracted from Medicare database. Poisson and general linear models (log‐link) were used to identify the association of race and ethnicity with HRU and DMC cost, after controlling for potentially influential clinical and demographic covariates.RESULTSThe African‐American group was more likely to have emergency‐room visits (odds ratio 1.19, 95% confidence interval 1.12–1.28) and less likely to have outpatient visits (0.96, 0.96–0.97) than whites. However, the Hispanic group was more likely to have inpatient and outpatient visits (odds ratio 0.88, 0.83–0.91; and 0.93, 0.91–0.95) than whites. Adjusted DMC cost showed racial and ethnic variation in all phases except the treatment and terminal phases. Factors associated with DMC cost varied among racial and ethnic groups.CONCLUSIONThe incremental burden of prostate cancer remains significant in the long term. Overall, the cost of prostate cancer care was higher among African‐American men than white and Hispanic men. This indicates the need for further research on care‐level factors to comprehend the racial and ethnic disparity in HRU and cost.