bluuebunny/crossref_metadata_2025_split huggingface dataset:
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment
Authors: Kuemmerle-Deschner Jasmin B , Lohse Peter , Koetter Ina , Dannecker Guenther E , Reess Fabian , Ummenhofer Katharina , Koch Silvia , Tzaribachev Nikolay , Bialkowski Anja , Benseler Susanne M 
Published: December 2011

Abstract
Introduction
Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family. This study analyzes the clinical spectrum, patterns of inflammatory parameters and reports on response to treatment.

Methods
A total of 42 patients and family members were screened for the presence of the NLRP3 mutation. Clinical symptoms were reviewed in all family members. Classical (erythrocyte sedimentation rate (ESR, C-reactive protein (CRP)) and novel MWS inflammatory markers (serum amyloid A (SAA), cytokines, cytokine receptor levels) were determined. Patients were treated with the IL-1 inhibitors Anakinra or Canakinumab.

Results
All 13 clinically affected patients were heterozygous carriers of the amino acid substitution p.Glu311Lys/E311K encoded by exon 3 of the NLRP3 gene, but none of the healthy family members. Disease manifestations varied widely. Except for one child, all carriers suffered from hearing loss and severe fatigue. TNF-α, IL-6, TNF-RI, and TNF-RII levels as well as SAA were elevated in three, two, one, six and ten patients, respectively. Both clinical and laboratory parameters responded quickly and sustainedly to treatment with Anakinra or Canakinumab.

Conclusion
The NLRP3 E311K mutation is associated with a heterogeneous clinical spectrum, which may expand the view on MWS presentation. The leading symptom was hearing loss. Pericarditis, a rare but severe clinical feature of MWS, was diagnosed in three patients. One patient had a severe course, which led to renal failure secondary to amyloidosis. IL-1 inhibition leads to rapid and sustained improvement of symptoms.
Growth of Cadmium Hexacyanidoferrate(III) Nanocubes and Its Application in Voltammetric Determination of Morphine
Authors: Ali Shah Raj , Chandra Prakash , Latwal Mamta , Jain Shalabh Kumar , Bansal Vipin Kumar 
Published: December 2011

Abstract
Cadmium hexacyanidoferrate(III) nanocubes (CdFeNc) have been synthesized and characterized using elemental analysis, thermal analysis, infrared spectroscopy, and X-ray diffraction technique. FE-SEM image showed that nanoparticles have cubic shape with size range 60–90 nm. Electrochemical behavior of CdFeNc has been studied. Electrocatalytic oxidation of morphine was studied using a cadmium hexacyanidoferrate(III) nanocube–carbon nanotube composite modified glassy carbon electrode (CdFeNc–CNT/GCE). The modified electrode reduced the peak potential of morphine by nearly 95 mV. The CdFeNc–CNT/GCE showed a linear response in a concentration range of 500–20 µM. The correlation coefficients (R) for phenolic and t-amine groups of morphine were 0.9925 and 0.9996 respectively while their sensitivity was 3.363 and 4.154 µA µM−1. The CdFeNc–CNT/GCE exhibited a detection limit of 0.21 µM for phenolic and t-amine groups of morphine.
The relationship of active ghrelin levels and intrauterine growth in preterm infants
Authors: Sahin Hamilcikan , Erener Tugba , Erginoz Ethem , Vural Mehmet , Ilikkan Barbaros , Kavuncuoglu Sultan , Yildiz Hayrettin , Perk Yildiz 
Published: December 2011

ObjectiveWe examined the association of active ghrelin levels with birth weight, sex, and gestational age (GA) in small for GA (SGA) and appropriate for GA (AGA) preterm infants.MethodsActive ghrelin levels were measured by ELISA method during the first five postnatal days in 38 preterm SGA infants and 32 preterm AGA controls.ResultsActive ghrelin levels were significantly higher in preterm SGA infants than in preterm AGA controls (P<0.01). Active ghrelin levels in preterms with birth weight <1500 g were statistically higher than those over 1500 g. Active ghrelin levels in preterms ≤34 gestational weeks were similar to those over 34 weeks. A negative correlation was detected between active ghrelin levels and birth weight (r=−0.561,P<0.0001) as well as GA (r=−0.449,P<0.0001).ConclusionWe found significantly higher active ghrelin levels in SGA preterms than those in AGA preterms and demonstrated a negative correlation between active ghrelin levels and birth weight in preterm infants. This was the first study showing a negative correlation between active ghrelin levels and birth weight in preterm infants.
Multiple Routes to Subfunctionalization and Gene Duplicate Specialization
Authors: Proulx Stephen R 
Published: December 2011

Abstract
Gene duplication is arguably the most significant source of new functional genetic material. A better understanding of the processes that lead to the stable incorporation of gene duplications into the genome is important both because it relates to interspecific differences in genome composition and because it can shed light on why some classes of gene are more prone to duplication than others. Typically, models of gene duplication consider the periods before duplication, during the spread and fixation of a new duplicate, and following duplication as distinct phases without a common underlying selective environment. I consider a scenario where a gene that is initially expressed in multiple contexts can undergo mutations that alter its expression profile or its functional coding sequence. The selective regime that acts on the functional output of the allele copies carried by an individual is constant. If there is a potential selective benefit to having different coding sequences expressed in each context, then, regardless of the constraints on functional variation at the single-locus gene, the waiting time until a gene duplication is incorporated goes down as population size increases.
Prevalence and Characteristics of Youth Sexting: A National Study
Authors: Mitchell Kimberly J. , Finkelhor David , Jones Lisa M. , Wolak Janis 
Published: December 2011

Objectives:
To obtain national estimates of youth involved in sexting in the past year (the transmission via cell phone, the Internet, and other electronic media of sexual images), as well as provide details of the youth involved and the nature of the sexual images.

Methods:
The study was based on a cross-sectional national telephone survey of 1560 youth Internet users, ages 10 through 17.

Results:
Estimates varied considerably depending on the nature of the images or videos and the role of the youth involved. Two and one-half percent of youth had appeared in or created nude or nearly nude pictures or videos. However, this percentage is reduced to 1.0% when the definition is restricted to only include images that were sexually explicit (ie, showed naked breasts, genitals, or bottoms). Of the youth who participated in the survey, 7.1% said they had received nude or nearly nude images of others; 5.9% of youth reported receiving sexually explicit images. Few youth distributed these images.

Conclusions:
Because policy debates on youth sexting behavior focus on concerns about the production and possession of illegal child pornography, it is important to have research that collects details about the nature of the sexual images rather than using ambiguous screening questions without follow-ups. The rate of youth exposure to sexting highlights a need to provide them with information about legal consequences of sexting and advice about what to do if they receive a sexting image. However, the data suggest that appearing in, creating, or receiving sexual images is far from being a normative behavior for youth.
Headache After Pediatric Traumatic Brain Injury: A Cohort Study
Authors: Blume Heidi K. , Vavilala Monica S. , Jaffe Kenneth M. , Koepsell Thomas D. , Wang Jin , Temkin Nancy , Durbin Dennis , Dorsch Andrea , Rivara Frederick P. 
Published: December 2011

Objective:
To determine the prevalence of headache 3 and 12 months after pediatric traumatic brain injury (TBI).

Methods:
This is a prospective cohort study of children ages 5 to 17 years in which we analyzed the prevalence of headache 3 and 12 months after mild TBI (mTBI; n = 402) and moderate/severe TBI (n = 60) compared with controls with arm injury (AI; n = 122).

Results:
The prevalence of headache 3 months after injury was significantly higher after mTBI than after AI overall (43% vs 26%, relative risk [RR]: 1.7 [95% confidence interval (CI): 1.2–2.3]), in adolescents (13–17 years; 46% vs 25%, RR: 1.8 [95% CI: 1.1–3.1]), and in girls (59% vs 24%, RR: 2.4 [95% CI: 1.4–4.2]). The prevalence of headache at 3 months was also higher after moderate/severe TBI than AI in younger children (5–12 years; 60% vs 27%; RR: 2.0 [95% CI: 1.2–3.4]). Twelve months after injury, TBI was not associated with a significantly increased frequency of headache. However, girls with mTBI reported serious headache (≥ 5 of 10 pain scale rating) more often than controls (27% vs 10%, RR: 2.2 [95% CI: 0.9–5.6]).

Conclusions:
Pediatric TBI is associated with headache. A substantial number of children suffer from headaches months after their head injury. The prevalence of headache during the year after injury is related to injury severity, time after injury, age, and gender. Girls and adolescents appear to be at highest risk of headache in the months after TBI.
Ce3+/Tb3+ activated GdF3, KGdF4, and CeF3 submicro/nanocrystals: Synthesis, phase evolution, and optical properties
Authors: Cao Chunyan , Yang Hyun Kyoung , Chung Jong Won , Moon Byung Kee , Choi Byung Chun , Jeong Jung Hyun , Kim Kwang Ho 
Published: December 2011

Abstract
Serum Plasminogen Activator Inhibitor‐1 and Tumor Necrosis Factor‐α Levels in Obesity and Periodontal Disease
Authors: Akman Pelin Taşdelen , Fentoğlu Özlem , Yılmaz Gülin , Arpak Nejat 
Published: December 2011

Background: Several studies have shown a possible association between periodontal disease and obesity. The aim of this study is to evaluate serum plasminogen activator inhibitor 1 (PAI‐1), tumor necrosis factor‐alpha (TNF‐α), and high‐sensitivity C‐reactive protein (hsCRP) levels in the association between obesity and periodontal disease.Methods: Two hundred individuals participated in this study. Body mass index (BMI), waist‐to‐hip ratio, plasma triglyceride (TRG), total cholesterol, low‐density lipoprotein cholesterol, high‐density lipoprotein cholesterol (HDL‐C), fasting blood glucose (FBG), hsCRP, TNF‐α, PAI‐1, and periodontal parameters (including plaque index [PI], probing depth [PD], clinical attachment level [CAL], and percentage of sites with bleeding on probing) were evaluated.Results: The groups with BMI ≥ 25 had higher median values for FBG, TRG, hsCRP, PAI‐1, PI, and CAL than did the groups with a BMI < 25 (P <0.01). Serum TRG levels were positively correlated with PI, PD, and CAL. There were negative associations between clinical periodontal parameters and HDL‐C. There were statistically significant correlations between PAI‐1 and clinical periodontal parameters (PI, PD, and CAL).Conclusion: Serum PAI‐1 levels may play an important role in the association between periodontal disease and obesity.
Isolation and Identification of Pathogenic <i>Escherichia coli</i>, <i>Klebsiella</i> spp. and <i>Staphylococcus</i> spp. in Raw Milk Samples Collected from Different Areas of Dhaka City, Bangladesh
Authors: Uddin Md Aftab , Motazzim-ul-Haque Hasan Md , Noor Rashed 
Published: December 2011

The present study was undertaken with the aim of investigating the bacteriological quality of locally available raw milk. A total number of 22 raw milk samples were collected from Dhaka city and its surrounding areas during the period from October 2009 to November 2009. The analysis comprised enumeration of total viable bacterial count (TVBC), total coliform count (TCC) and total staphylococcal count (TSC) for the determination of sanitary quality. The highest TVBC, TCC and TSC were 2.36 x109 cfu/ml, 2.0 x 108 cfu/ml & 4.7 x 107 cfu/ml, respectively. In order to observe the antibiotic-resistance pattern, the antibiogram assay was carried out. All Escherichia coli isolated from raw milk exhibited 100% resistance against Rifampin (R) and Tetracycline (TE) and 50% resistance against Nalidixic Acid (NA) but were 100% sensitive against Imipenem (IPM). Klebsiella spp. exhibited 100% sensitivity against Imipenem (IPM). Staphylococcus spp. isolated from raw milk exhibited 100% resistance against Rifampin (R) and Nalidixic Acid (NA), but were 100% sensitive to Gentamicin (CN) and Imipenem (IPM). This survey indicates that most of the raw milk samples were not satisfactory in course of public health standard as some pathogenic bacteria were detected from these samples. Frequent use of antibiotics should be prohibited since antibiotic resistant strains are continuously increasing.DOI: http://dx.doi.org/10.3329/sjm.v1i1.9098 Stamford Journal of Microbiology, Vol.1(1), July 2011, p.19-23
Evaluation of Microbiological Quality of Commercially Available Bottled Water in the City of Dhaka, Bangladesh
Authors: Majumder Ahmad Kamruzzaman , Islam KM Nazmul , Nite Rezwanun Naher , Noor Rashed 
Published: December 2011

Bottled water has become one of the most popular drinks in Bangladesh. Now a days it is easily available in the market. Due to lack of confidence on municipal supply water, people now prefer to drink bottled water instead of tap water, mostly when they are outside the home, and in many occasions. In the present study, the presence of total coliforms (TC) and fecal coliforms (FC) from nine commercially available lacal Bangladeshi bottled water samples were examined. The obtained results indicated that most of the studied bottled water were out of their safety guidelines and hence some chronic diseases (renal failure, liver cirrhosis and anemia) are expected in the area understudy, because 68.89% and 31.11% of the bottled water sampled in the current study showed heterotrophic plate counts (HPC) within a range of 1-500 (cfu/ml) and greater than 500 (cfu/ml), respectively and 0% samples showed less than 1 (cfu/ml) in heterotrophic plate counts. The results also revealed the ill performance and poor drinking water quality of the purification systems of the investigated water samples. 28% of the respondents considered that the quality of bottled water was satisfactory, in contrast to the 26% of the respondent, who judged that the quality of bottled water was not that satisfactory. However, the highest (34%) number of the respondents did not know whether the quality of the bottled water is good or not satisfactory. Recommendation was suggested for new treatment systems of the investigated suspicious water to prevent human illness. DOI: http://dx.doi.org/10.3329/sjm.v1i1.9099Stamford Journal of Microbiology, Vol.1(1), July 2011, p.24-30
Persistence of Anti-HBs Antibody and Immunological Memory in Healthy Individuals Vaccinated with Hepatitis B Vaccine
Authors: Chakraborty Bidhan , Bashar Tanvir , Roy Konok , Noor Rashed , Rahman M Majibur 
Published: December 2011

Hepatitis B virus (HBV) infection is one of the major public health problems in the world. It is estimated that there are three hundred million HBV carriers and around one million deaths annually due to HBV infection worldwide. Vaccination is considered to be the best solution to this problem. The present study was conducted to investigate the efficacy of the vaccine administered against hepatitis B and to reveal the immunological memory against the vaccine. Samples were taken from both male (74 individuals) and female (37 individuals) from different age groups ranging from three to sixty three years. Among the population studied, both good (63.06%) and hypo (36.94%) responders were found. All the individuals (100%) showed a satisfactory result having an anti-HBs antibody titer above the protective level (≥ 10 IU/L).DOI: http://dx.doi.org/10.3329/sjm.v1i1.9101 Stamford Journal of Microbiology, Vol.1(1), July 2011, p.37-41
Enterotoxin Profiling and Antibiogram of <i>Escherichia coli</i> Isolated from Poultry Feces in Dhaka District of Bangladesh
Authors: Bashar Tanvir , Rahman Mostafizur , Rabbi Fazle Alam , Noor Rashed , Rahman M Majibur 
Published: December 2011

Bacterial diseases remain a threat to the poultry industry and countermeasures to prevent and control them are needed to prevent production losses. With the continued threat of exotic and emerging diseases and the problem of the use of antibiotics in animal production, there is a serious and urgent need to find safe and practical alternatives to prevent or control pathogens. That,s why, our research has addressed in different poultry farms for detection of toxigenic Escherichia coli from poultry chicken feces adjacent to the Dhaka city, during the period of January 2009 to June 2009 and characterize their ability to produce enterotoxin and also examined the antibiogram of the isolates. A total of 60 fecal samples were collected and E. coli were isolated and identified by conventional cultural, biochemical and motility test.The heatstable toxins were determined by Suckling Mice Assay (SMA). The overall prevalence of E. coli was 100%. Among the isolates of E. coli, only 45% and 14% isolates showed β hemolysis and α hemolysis, respectively. Congo red binding has been used as a potential virulence marker and 69 % E. coli isolates in the present study showed congo red binder, among which, 59% isolates were hemolytic. A total of 20% and 5% isolates showed the presence of LT and ST enterotoxin in their guts by Suckling Mice assay, respectively. The antibiotic sensitivity pattern shown that the isolates were highly sensitive (100%) to imipenem, pipercillin, neomycin and ceftrixone. Results from this study revealed the high prevalence rate of E. coli isolates with variable resistance against a wide range of antimicrobial drug. It may suggest that the high resistance of E. coli to antibiotics as well as their toxigenic nature constitutes a threat not only to poultry industry of Bangladesh but also possesses a serious threat to public and animal health. DOI: http://dx.doi.org/10.3329/sjm.v1i1.9134 Stamford Journal of Microbiology, Vol.1(1), July 2011, p.51-57
Avril 1952, la conférence économique de Moscou : changement de tactique ou innovation dans la politique extérieure stalinienne ?
Authors: Lipkin Mikhail 
Published: December 2011

Résumé Cet article analyse les causes, la signification et les conséquences de la Conférence économique internationale de Moscou qui s’est déroulée du 3 au 12 avril 1952. Fondé sur de nouveaux témoignages en provenance des Archives d’État russes d’histoire politique et sociale, il montre que l’objectif majeur de cette réunion était de transformer par le commerce la logique de guerre froide en coexistence pacifique. Ce fut la première tentative d’ouvrir le rideau de fer et d’inaugurer la détente. Une des réussites majeures de la Conférence a été l’entame de discussions secrètes, en août 1952, avec les principales industries ouest-allemandes en vue d’établir des relations commerciales. Mais la Conférence ne déboucha pas sur des résultats immédiats en raison du virage opéré par Staline lui-même à la fin de l’année 1952 : elle a pourtant enrichi la politique étrangère soviétique de nouvelles idées qui devinrent le noyau de la stratégie soviétique de l’ère Khrouchtchev et Brejnev.
Des frontières s'ouvrent et se ferment. La mise en place d'un espace socialiste derrière le rideau de fer, 1953-1970
Authors: Dullin Sabine 
Published: December 2011

Résumé La mort de Staline entraîne un vent de réformes : parmi elles, des mesures d’ouverture des frontières internes au bloc socialiste. Impulsées par Beria en 1953 et mises en place dans les années 1955-1966, ces mesures assouplissent les règles de voyage et de séjour entre les citoyens soviétiques et ceux des pays de l’Est. Comme en témoignent les interviews menées sur la frontière ukraino- slovaque, les retrouvailles entre familles séparées par la frontière depuis 1946 datent de ce moment. Ces réformes révèlent aussi dans un jeu complexe d’ouverture/fermeture le nouvel espace socialiste qui s’est créé à l’ombre du rideau de fer et du mur de Berlin. Espace de coopération policière et militaire dont la répression collective du Printemps de Prague est le point d’orgue, il est cependant miné par la circulation des biens et des idées que le dégel a favorisée.
Une offensive cinématographique soviétique en France ? Les enjeux du retour du cinéma soviétique sur les écrans français dans l'après-guerre
Authors: Gallinari Pauline 
Published: December 2011

Résumé Dès la Libération, les films soviétiques sont de retour sur les écrans de cinéma français. Jusqu’en 1947, le cinéma soviétique semble bénéficier d’une visibilité inédite en France en circulant d’une part dans les réseaux d’exploitation commerciale et d’autre part dans les circuits de l’exploitation non commerciale. Peut-on pour autant considérer qu’il y a eu une offensive cinématographique soviétique en France dans l’après-guerre ? Si l’ urss a d’indéniables ambitions cinématographiques, dont le moteur est idéologique, dans quelle mesure celles-ci sont-elles réalisées ? Cet article revient sur les enjeux inhérents à la diffusion du cinéma soviétique en France pour interroger sa mise en œuvre. Les résultats de l’entreprise cinématographique soviétique sont considérés afin d’évaluer l’ampleur et l’impact de la diffusion du cinéma soviétique en France dans l’après-guerre.
Bilateral Achilles Tendon Enlargement
Authors: Huang Lu , Miao Xu-dong , Yang Di-sheng , Tao Hui-min 
Published: December 2011

Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. It has been characterized both clinically and biochemically, and recently from the molecular biological aspect as well. Juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and tendon xanthomas are the most prominent features of this disease. Bilateral symmetrical firm masses of Achilles tendons may be the first symptom the patient recognizes because it can jeopardize his or her ability to walk. However, the treatment strategies for tendon tumors vary.In a recent case, we diagnosed the disease properly, according to the clinical manifestations and the radiological and laboratory examinations. The genetic mutation was characterized by analyzing sterol 27-hydroxylase from the patient’s family (located on nucleotide 599) and led to a nonsense mutation. It is a unique type of mutation that has never been reported to our knowledge. Tendon lesions are characterized by the loss of muscle fibers and accumulation of lipid products. To help the patient regain the strength of the Achilles tendon and walking abilities, a large area of tendon tumor was excised, followed by reconstruction with a tibialis posterior allograft, which is the second strongest tendon in the foot and ankle. Although the use of this type of graft is uncommon, the final result was satisfactory. At the 10-month follow-up examination, the patient could walk easily without pain. This case report suggests that the surgical procedure will provide an alternative for the repair of large-area degenerative Achilles tendons.