bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reverse transcriptional profiling: non-correspondence of transcript level variation and proximal promoter polymorphism
Authors: Brown Rebecca Petersen , Feder Martin E 
Published: August 2005

Abstract

Background
Variation in gene expression between two Drosophila melanogaster strains, as revealed by transcriptional profiling, seldom corresponded to variation in proximal promoter sequence for 34 genes analyzed. Two sets of protein-coding genes were selected from pre-existing microarray data: (1) those whose expression varied significantly and reproducibly between strains, and (2) those whose transcript levels did not vary. Only genes whose regulation of expression was uncharacterized were chosen. At least one kB of the proximal promoters of 15–19 genes in each set was sequenced and compared between strains (Oregon R and Russian 2b).

Results
Of the many promoter polymorphisms, 89.6% were SNPs and 10.4% were indels, including homopolymer tracts, microsatellite repeats, and putative transposable element footprints. More than half of the SNPs were changes within a nucleotide class. Hypothetically, genes differing in expression between the two strains should have more proximal promoter polymorphisms than those whose expression is similar. The number, frequency, and type of polymorphism, however, were the same in both sets of genes. In fact, the promoters of six genes with significantly different mRNA expression were identical in sequence.

Conclusion
For these genes, sequences external to the proximal promoter, such as enhancers or in trans, must play a greater role than the proximal promoter in transcriptomic variation between D. melanogaster strains.
A priori postulated and real power in cluster randomized trials: mind the gap
Authors: Guittet Lydia , Giraudeau Bruno , Ravaud Philippe 
Published: August 2005

Abstract

Background
Cluster randomization design is increasingly used for the evaluation of health-care, screening or educational interventions. The intraclass correlation coefficient (ICC) defines the clustering effect and be specified during planning. The aim of this work is to study the influence of the ICC on power in cluster randomized trials.

Methods
Power contour graphs were drawn to illustrate the loss in power induced by an underestimation of the ICC when planning trials. We also derived the maximum achievable power given a specified ICC.

Results
The magnitude of the ICC can have a major impact on power, and with low numbers of clusters, 80% power may not be achievable.

Conclusion
Underestimating the ICC during planning cluster randomized trials can lead to a seriously underpowered trial. Publication of a priori postulated and a posteriori estimated ICCs is necessary for a more objective reading: negative trial results may be the consequence of a loss of power due to a mis-specification of the ICC.
Inducible nitric oxide synthase (iNOS) expression in monocytes during acute Dengue Fever in patients and during in vitro infection
Authors: Neves-Souza Patrícia CF , Azeredo Elzinandes L , Zagne Sonia MO , Valls-de-Souza Rogério , Reis Sonia RNI , Cerqueira Denise IS , Nogueira Rita MR , Kubelka Claire F 
Published: August 2005

AbstractMononuclear phagocytes are considered to be main targets for Dengue Virus (DENV) replication. These cells are activated after infection, producing proinflammatory mediators, including tumour-necrosis factor-α, which has also been detected in vivo. Nitric oxide (NO), usually produced by activated mononuclear phagocytes, has antimicrobial and antiviral activities.
Methods
The expression of DENV antigens and inducible nitric oxide synthase (iNOS) in human blood isolated monocytes were analysed by flow cytometry using cells either from patients with acute Dengue Fever or after DENV-1 in vitro infection. DENV-1 susceptibility to iNOS inhibition and NO production was investigated using NG-methyl L-Arginine (NGMLA) as an iNOS inhibitor, which was added to DENV-1 infected human monocytes, and sodium nitroprussiate (SNP), a NO donor, added to infected C6/36 mosquito cell clone. Viral antigens after treatments were detected by flow cytometry analysis.

Results
INOS expression in activated monocytes was observed in 10 out of 21 patients with Dengue Fever and was absent in cells from ten healthy individuals. DENV antigens detected in 25 out of 35 patients, were observed early during in vitro infection (3 days), significantly diminished with time, indicating that virus replicated, however monocytes controlled the infection. On the other hand, the iNOS expression was detected at increasing frequency in in vitro infected monocytes from three to six days, exhibiting an inverse relationship to DENV antigen expression. We demonstrated that the detection of the DENV-1 antigen was enhanced during monocyte treatment with NGMLA. In the mosquito cell line C6/36, virus detection was significantly reduced in the presence of SNP, when compared to that of untreated cells.

Conclusion
This study is the first to reveal the activation of DENV infected monocytes based on induction of iNOS both in vivo and in vitro, as well as the susceptibility of DENV-1 to a NO production.
Enhanced efficacy of gemcitabine in combination with anti-CD20 monoclonal antibody against CD20+ non-Hodgkin's lymphoma cell lines in vitro and in scidmice
Authors: Smith Mitchell R , Joshi Indira , Jin Fang , Obasaju Coleman 
Published: August 2005

AbstractBackgroundDespite exciting new targeted therapeutics against non-Hodgkin's lymphoma (NHL), chemotherapy remains a cornerstone of therapy. While purine nucleoside analogs have significant activity in low grade NHL, the pyrimidine nucleoside analog gemcitabine has been less extensively studied, but has important activity. Use of the anti-CD20 monoclonal antibody rituximab in combination with chemotherapy for B-NHL is becoming prevalent in clinical practice, but has not been extensively studied in pre-clinical models.MethodsWe have tested the activity of gemcitabine ± rituximabin vitroand inscid/human NHL xenograft models. We used two t(14;18)+, CD20+ follicular B cell NHL cell lines, DoHH2 a transformed NHL line and WSU-FSCCL isolated from pleural fluid of a patient with indolent NHL.ResultsGemcitabine is cytotoxic to DoHH2 and WSU-FSCCL cellsin vitro, and the IC50is 2–3 fold lower in the presence of rituximab. Apoptosis is also enhanced in the presence of rituximab. Clearance of NHL cells from ascites inscidmice is prolonged by the combination, as compared with either agent alone. Most importantly, survival ofscidmice bearing human NHL cells is significantly prolonged by the combination of gemcitabine + rituximab.ConclusionBased on our pre-clinical data showing prolonged survival of mice bearing human lymphoma cell line xenografts after treatment with gemcitabine + anti-CD20 antibody, this combination, expected to have non-overlapping toxicity profiles, should be explored in clinical trials.
Falls in young, middle-aged and older community dwelling adults: perceived cause, environmental factors and injury
Authors: Talbot Laura A , Musiol Robin J , Witham Erica K , Metter E Jeffery 
Published: August 2005

Abstract

Background
Falls in older people have been characterized extensively in the literature, however little has been reported regarding falls in middle-aged and younger adults. The objective of this paper is to describe the perceived cause, environmental influences and resultant injuries of falls in 1497 young (20–45 years), middle-aged (46–65 years) and older (> 65 years) men and women from the Baltimore Longitudinal Study on Aging.

Methods
A descriptive study where participants completed a fall history questionnaire describing the circumstances surrounding falls in the previous two years.

Results
The reporting of falls increased with age from 18% in young, to 21% in middle-aged and 35% in older adults, with higher rates in women than men. Ambulation was cited as the cause of the fall most frequently in all gender and age groups. Our population reported a higher percentage of injuries (70.5%) than previous studies. The young group reported injuries most frequently to wrist/hand, knees and ankles; the middle-aged to their knees and the older group to their head and knees. Women reported a higher percentage of injuries in all age groups.

Conclusion
This is the first study to compare falls in young, middle and older aged men and women. Significant differences were found between the three age groups with respect to number of falls, activities engaged in prior to falling, perceived causes of the fall and where they fell.
Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2mutation carriers
Authors: Kotsopoulos Joanne , Olopade Olufunmilayo I , Ghadirian Parviz , Lubinski Jan , Lynch Henry T , Isaacs Claudine , Weber Barbara , Kim-Sing Charmaine , Ainsworth Peter , Foulkes William D , Eisen Andrea , Sun Ping , Narod Steven A 
Published: August 2005

Abstract
Background
Several anthropometric measures have been found to be associated with the risk of breast cancer. Current weight, body mass index, and adult weight gain appear to be predictors of postmenopausal breast cancer. These factors have been associated with a reduced risk of premenopausal breast cancer. We asked whether there is an association between changes in body weight and the risk of breast cancer in women who carry a mutation in either breast cancer susceptibility gene, BRCA1 or BRCA2.

Methods
A matched case–control study was conducted in 1,073 pairs of women carrying a deleterious mutation in either BRCA1 (n = 797 pairs) or BRCA2 (n = 276 pairs). Women diagnosed with breast cancer were matched to control subjects by year of birth, mutation, country of residence, and history of ovarian cancer. Information about weight was derived from a questionnaire routinely administered to women who were carriers of a mutation in either gene. Conditional logistic regression was used to estimate the association between weight gain or loss and the risk of breast cancer, stratified by age at diagnosis or menopausal status.

Results
A loss of at least 10 pounds in the period from age 18 to 30 years was associated with a decreased risk of breast cancer between age 30 and 49 (odds ratio (OR) = 0.47; 95% confidence interval (CI) 0.28–0.79); weight gain during the same interval did not influence the overall risk. Among the subgroup of BRCA1 mutation carriers who had at least two children, weight gain of more than 10 pounds between age 18 and 30 was associated with an increased risk of breast cancer diagnosed between age 30 and 40 (OR = 1.44, 95% CI 1.01–2.04). Change in body weight later in life (at age 30 to 40) did not influence the risk of either premenopausal or postmenopausal breast cancer.

Conclusion
The results from this study suggest that weight loss in early adult life (age 18 to 30) protects against early-onset BRCA-associated breast cancers. Weight gain should also be avoided, particularly among BRCA1 mutation carriers who elect to have at least two pregnancies.
Global Health Dermatology
Authors: Fuller L. Claire 
Published: February 2024

Abstract
There is a vast variation in life expectancy and risk of preventable illness and death across the globe with the world’s poor bearing the brunt of this. Aiming at reducing such health disparities forms the basis of the global health discipline. This chapter explores the development global health and highlights key players and principles. It aims to share what a crucial role understanding and addressing dermatological disorders has for the well‐being of our populations, recognising that skin health is global health.
Topical Drug Delivery
Authors: Guy Richard H. , Davis Adrian F. 
Published: February 2024

Abstract
Skin barrier function is primarily controlled by the stratum corneum. Key determinants of skin permeability are drug lipophilicity, size and solubility. While many topical formulations are available to treat skin disease, the efficiency of these products – in terms of the fraction of dose delivered – is limited. To provide safer and more effective topical therapy requires improved formulations with lower drug loads that can sustain delivery into the skin throughout the dosing period; that is, the residual phase post‐application of the formulation must also be designed to maintain drug release into the barrier. To facilitate the optimisation of topical products, objective methods to assess the rate and extent of drug input into the skin are being developed and validated.
Psychological and Social Impact of Long‐Term Conditions and Principles of Holistic Management
Authors: McBride Sandy R. , Mizara Alexandra 
Published: February 2024

Abstract
Living with a long‐term skin condition, often without hope of cure or improvement, can be life altering or even life ruining. Clinicians working in dermatology are well placed to identify and support patients at risk of life impairment. Together with an accurate diagnosis and access to effective treatment, other aspects of care require consideration for dermatology patients to achieve their full life potential. Central to managing people with long‐term skin conditions is a holistic approach – an approach that reflects the individual needs and beliefs of patients and recognises that every patient’s experience is different, even with outwardly similar skin signs. Dermatology clinicians need an understanding of the psychological and social impact of skin conditions in order to provide optimal care. In this chapter we aim to provide an overview of challenges posed by living with a long‐term skin condition, discuss the need for a holistic approach to care and describe some key consultation skills useful in busy clinics.
DNA Repair Disorders with Cutaneous Features
Authors: Fassihi Hiva 
Published: February 2024

Abstract
Defects in DNA repair pathways result in a number of disorders, many with skin involvement, commonly photosensitivity, cancer and premature ageing. This chapter outlines some of these disorders, including xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, ataxia telangiectasia, Fanconi anaemia, and Muir–Torre syndrome, highlighting the common cutaneous manifestations.
Inherited Metabolic Diseases
Authors: Morris Andrew A.M. 
Published: February 2024

Abstract
Inherited metabolic diseases are caused by deficiencies of enzymes or transport proteins. Most are diagnosed by biochemical analysis of blood or urine, or enzyme assays, but some require genetic tests. They are classified according to the organelle or pathway involved. For lysosomal disorders, the characteristic dermatological findings are ‘coarse’ facial features (as in the mucopolysaccharidoses) and angiokeratomas (as in Fabry disease). Many congenital defects of glycosylation have dermatological features, such as fat pads and inverted nipples, ichthyosis or cutis laxa. This chapter also covers disorders of the mitochondria, amino acid and biotin metabolism and zinc and copper transport, along with familial tumoral calcinosis. Porphyrias and lipid disorders causing xanthomas, ichthyosis or lipodystrophy are considered elsewhere. Enzyme replacement therapy is available for several lysosomal disorders, including Fabry disease. Other metabolic diseases often respond to dietary treatment, drugs or pharmacological doses of nutrients but for some conditions there is no satisfactory treatment.
Disorders of the Sweat Glands
Authors: Coulson Ian H. , Wilson Niall J. E. 
Published: February 2024

Abstract
The chapter covers the anatomy and physiology of the eccrine and apocrine glands, and the causes of and management of both localised and focal hyperhidrosis, including cold‐induced and gustatory sweating. The causes and management of localised and generalised anhidrosis is addressed, including Ross syndrome. The classification of miliaria is considered, as well as the features of neutrophilic hidradenitis, granulosis rubra nasi and eccrine syringosquamous metaplasia. Abnormalities of apocrine sweat including malodour and sweat colour, haematidrosis and Fox–Fordyce disease are described.
Acquired Disorders of the Nails and Nail Unit
Authors: Pasch Marcel C. , Richert Bertrand , Iorizzo Matilde 
Published: February 2024

Abstract
Diseases of the nail unit may have numerous causes that reflect dermatology as a whole but often present in a unique way. This chapter attempts to increase insight into the pathophysiology of the expression of nail abnormalities. It also focuses on many groups of nail disease, including traumatic nail disorders, tumours of and around the nail unit, perionychial disorders, age‐related nail abnormalities, and frequent dermatoses affecting the nails, such as nail psoriasis, eczema and lichen planus. Imaging of the nail, nail surgery and some cosmetic aspects of nail care are also discussed.
Dermatoses of Pregnancy
Authors: Stanway Amy 
Published: February 2024

Abstract
This chapter provides a comprehensive overview of dermatological conditions affecting women during pregnancy. It includes specific dermatoses of pregnancy, itch during pregnancy, systemic and cutaneous infections with specific relevance to dermatology, autoimmune and inflammatory skin conditions affecting pregnant woman and the management of skin tumours during pregnancy. Physiological skin changes during pregnancy and an overview on safe treatments for use in dermatological conditions during pregnancy are reviewed.
Cutaneous Markers of Internal Malignancy
Authors: Emtestam Lennart , Sartorius Karin 
Published: February 2024

Abstract
In nearly every case at a skin clinic, it is important to consider any potential internal causes. It is not possible to list all skin conditions related to cancer so this chapter covers the most common skin changes linked with systemic neoplastic diseases, based on the latest evidence. Recommendations for clinical investigations and management are included and differential diagnoses are discussed.
Technical feasibility of novel immunostimulatory low‐dose radiation for polymetastatic disease with CBCT‐based online adaptive and conventional approaches
Authors: Nasser Nour , Perez Bradford A. , Penagaricano Jose A. , Caudell Jimmy J. , Oliver Daniel E. , Latifi Kujtim , Moros Eduardo G. , Redler Gage 
Published: February 2024

AbstractPurposeA workflow/planning strategy delivering low‐dose radiation therapy (LDRT) (1 Gy) to all polymetastatic diseases using conventional planning/delivery (Raystation/Halcyon = “conventional”) and the AI‐based Ethos online adaptive RT (oART) platform is developed/evaluated.MethodsUsing retrospective data for ten polymetastatic non‐small cell lung cancer patients (5‐52 lesions each) with PET/CTs, gross tumor volumes (GTVs) were delineated using PET standardized‐uptake‐value (SUV) thresholding. A 1 cm uniform expansion of GTVs to account for setup/contour uncertainty and organ motion‐generated planning target volumes (PTVs). Dose optimization/calculation used the diagnostic CT from PET/CT. Dosimetric objectives were: Dmin,0.03cc ≥ 95% (acceptable variation (Δ) ≥ 90%), V100% ≥ 95% (Δ ≥ 90%), and D0.03cc ≤ 120% (Δ ≤ 125%). Additionally, online adaptation was simulated. When available, subsequent diagnostic CT was used to represent on‐treatment CBCT. Otherwise, the CT from PET/CT used for initial planning was deformed to simulate clinically representative changes.ResultsAll initial plans generated, both for Raystation and Ethos, achieved clinical goals within acceptable variation. For all patients, Dmin,0.03cc ≥ 95%, V100% ≥ 95%, and D0.03cc ≤ 120% goals were achieved for 84.8%/99.5%, 97.7%/98.7%, 97.4%/92.3%, in conventional/Ethos plans, respectively. The ratio of 50% isodose volume to PTV volume (R50%), maximum dose at 2 cm from PTV (D2cm), and the ratio of the 100% isodose volume to PTV volume (conformity index) in Raystation/Ethos plans were 7.9/5.9; 102.3%/88.44%; and 0.99/1.01, respectively. In Ethos, online adapted plans maintained PTV coverage whereas scheduled plans often resulted in geographic misses due to changes in tumor size, patient position, and body habitus. The average total duration of the oART workflow was 26:15 (min:sec) ranging from 6:43 to 57:30. The duration of each oART workflow step as a function of a number of targets showed a low correlation coefficient for influencer generation and editing (R2 = 0.04 and 0.02, respectively) and high correlation coefficient for target generation, target editing and plan generation (R2 = 0.68, 0.63 and 0.69, respectively).ConclusionsThis study demonstrates feasibility of conventional planning/treatment with Raystation/Halcyon and highlights efficiency gains when utilizing semi‐automated planning/online‐adaptive treatment with Ethos for immunostimulatory LDRT conformally delivered to all sites of polymetastatic disease.
Self‐Boosting Energy Generation via Triboelectric Nanogenerator–Capacitor Coupling
Authors: Kim Jihye , Ryu Hanjun , Kim SeongMin , Lee Hyeon Yeong , Karami Armine , Galayko Dimitri , Kang Donghyeon , Kwak Sung Soo , Yoon Hong‐Joon , Basset Philippe , Kim Sang‐Woo 
Published: February 2024

AbstractWith the development of wearable and wireless electronic devices, the triboelectric nanogenerator (TENG) is attracting interest as a candidate for portable power. Many studies are conducted to increase the surface charge density of the TENG, such as external charge pumping or external electron excitation strategies. However, there are limitations in that another additional external energy source is required. Here, a TENG–capacitor (TC) coupling system that can maximize energy generation and storage efficiency within a limited volume is proposed. Density functional theory calculations indicate that the electric field induced on capacitor increases the fermi energy of positive triboelectric material, resulting in more charge transfer between two triboelectric materials. TC coupling system enhances TENG output performance and the capacitor charging rate in a virtuous cycle. This study provides new insights into TENG structural design and an important guideline for the use of TENG as a portable power source for wearable and wireless applications.
Engineering Pt‐Cu diatomics electrocatalysts enables highly efficient urea synthesis
Authors: Lu Fei , Wang Jingnan , Gao Yuhang , Wang Yan , Wang Xi 
Published: February 2024

AbstractThe rational design of novel heterogeneous urea‐synthesis electrocatalysts (HUECs) poses an immense challenge due to their inherent complexity. Moreover, the ideal HUECs must also possess the ability to suppress two major competitive reactions: hydrogen evolution reaction (HER) and N2 reduction reaction (NRR). However, this daunting task can be made feasible with the use of heterogeneous diatomic catalysts that have been supported by unambiguous theoretical models. Herein, we report a design for an efficient platinum‐copper diatomic electrocatalyst (Pt1Cu1‐TiO2) for urea production based on theoretical predictions. Through rational screening of 8 Pt‐diatomics HUECs, we discovered that Pt1Cu1‐TiO2 can effectively suppress HER and NRR while promoting the adsorption of CO2 and N2. Subsequently, we experimentally fabricated Pt1Cu1‐TiO2 which exhibited optimal urea electrosynthesis activity of 51.71 molurea molPt+Cu−1 h−1. Pt1‐Cu1 diatomics in Pt1Cu1‐TiO2 could synergistically encourage the activation of *CO2/*N2 and crucial C‐N coupling with an optimal energy barrier (0.25 eV).