bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
Authors: Porta Francesco , Chiesa Nicoletta , Martinelli Diego , Spada Marco 
Published: February 2019

Abstract

Background
Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare inborn error of metabolism with uncertain clinical significance. As it leads to C5-carnitine (i.e. isovalerylcarnitine, 2methylbutyrilcarnitine, or pivaloylcarnitine) elevation, SBCAD deficiency is detectable at newborn screening, requiring differential diagnosis from isovaleric acidemia and pivalic acid administration. Increased urinary excretion of 2-methylbutyrylglycine (2MBG) is the hallmark of SBCAD deficiency.

Methods
We report two cases of SBCAD deficiency and provide a review of the available literature on this condition.

Results
Two siblings newly diagnosed with SBCAD deficiency are reported. Newborn screening allowed the early diagnosis in the second-born (C5=0.5 μmol/L, normal 0.05–0.3 μmol/L) and addressed selective screening in the 5-year asymptomatic brother (C5=1.9 μmol/L). Both patients showed increased urinary excretion of 2MBG and two mutations in the ACADSB gene (c.443C>T/c.1145C>T). Currently, both the patients are asymptomatic. Longitudinal biochemical monitoring of the two patients while on treatment with carnitine (100 mg/kg/day) was provided. Based on our experience and the literature review (162 patients), SBCAD deficiency is symptomatic in about 10% of reported patients. Clinical onset occurs in newborns or later in life with seizures, developmental delay, hypotonia, and failure to thrive. On longitudinal follow-up, epilepsy, developmental delay, microcephaly, and autism can develop. Acute metabolic decompensation due to catabolic stressors can occur, as observed in one newly reported patient. Fifteen mutations in the ACADSB gene are known, including the newly identified variant c.1145C>T (p.Thr382Met), variably associated to the phenotype. In the Hmong population, SBCAD deficiency is highly prevalent, mostly due to the founder mutation c.1165A>G, and is largely asymptomatic.

Conclusions
Although mostly asymptomatic, considering SBCAD deficiency as a non-disease in non-Hmong subjects appears unsafe. Catabolic situations can precipitate acute metabolic decompensation. Carnitine supplementation and valproate avoidance appear to be indicated. Providing an emergency protocol for the management of acute catabolic episodes seems reasonable in asymptomatic patients with SBCAD deficiency. Longitudinal follow-up is recommended.
Continuous infusion vs. intermittent flushing of peripheral cannulas in neonates using a needleless connector: a prospective cohort study
Authors: Hoff Rieka , Vervisch Karolien , De Coen Kris , Smets Koenraad 
Published: February 2019

Abstract

Objective
To compare the duration of patency of peripheral intravenous cannulas between continuous infusion and intermittent flushing, while using a needleless intravenous connector in newborns admitted to the neonatal intensive care unit (NICU).

Methods
This is a prospective cohort study, including neonates admitted to the NICU who needed a peripheral intravenous cannula for intermittent administration of intravenous medication. In the first period, neonates received continuous peripheral infusion with NaCl 0.9% at 0.2 mL/h. In the second period, cannulas were flushed with NaCl 0.9% (0.5 mL before and 0.3 mL after the administration of intravenous medication).

Results
A total of 113 neonates (210 cannulas) were included in the study, 55 received continuous peripheral infusion and 58 received intermittent flushing. Intermittent flushing resulted in a significantly longer duration of cannula patency compared to continuous infusion (geometric mean 47.1 vs. 35.4 h, P=0.041). The incidence of extravasation was higher with continuous infusion (68.9% vs. 43.2%; P=0.001), while occlusion was more common with intermittent flushing (28.4% vs. 6.6%; P=0.002).

Conclusions
Intermittent flushing of peripheral cannulas (using needleless intravenous connectors) results in longer cannula patency compared to continuous infusion, in neonates requiring only intermittent administration of medication.
Acoustic Instability with Dynamic Charging in Quantum Plasmas
Authors: Rasheed A. , Zubia K. , Rubina A. , Jamil M. 
Published: February 2019

Abstract
The time-dependent charging phenomenon of dust particles is timely studied in quantum plasmas with low frequency dust dynamical temporal scales referred to as dust acoustic waves. The quantum effects are incorporated through Fermi pressure, exchange-correlation potential as well as the Bohm potential. The quantum fluid model is employed in getting the dispersion relation pointing to the damping instability. The damping instability is analysed across the whole spectrum k, on varying ion-thermal temperature, electron number density and the dust radii. The applications of this work are pointed out in the laboratory and the astrophysical dense plasma systems.
Design of enzymatic cascade processes for the production of low-priced chemicals
Authors: Ruales-Salcedo Angela Viviana , Higuita Juan Carlos , Fontalvo Javier , Woodley John M. 
Published: February 2019

Abstract
While the application of enzymes to synthetic and industrial problems continues to grow, the major development today is focused on multi-enzymatic cascades. Such systems are particularly attractive, because many commercially available enzymes operate under relatively similar operating conditions. This opens the possibility of one-pot operation with multiple enzymes in a single reactor. In this paper the concept of modules is introduced whereby groups of enzymes are combined in modules, each operating in a single reactor, but with the option of various operating strategies to avoid any complications of nonproductive interactions between the enzymes, substrates or products in a given reactor. In this paper the selection of modules is illustrated using the synthesis of the bulk chemical, gluconic acid, from lignocellulosic waste.
Improving Interpretation of the Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function Scale for Specific Tasks in Community-Dwelling Older Adults
Authors: Houck Jeff , Jacobson Ryan , Bass Michael , Dasilva Chris , Baumhauer Judith F. 
Published: February 2019

Background and Purpose:
New generic patient-reported outcomes like the Patient-Reported Outcomes Measurement Information System (PROMIS) are available to physical therapists to assess physical function. However, the interpretation of the PROMIS Physical Function (PF) T-score is abstract because it references the United States average and not specific tasks. The purposes of this study were to (1) determine convergent validity of the PROMIS PF scale with physical performance tests; (2) compare predicted performance test values to normative data; and (3) identify sets of PROMIS PF items similar to performance tests that also scale in increasing difficulty and align with normative data.

Methods:
Community-dwelling older adults (n = 45; age = 77.1 ± 4.6 years) were recruited for this cross-sectional analysis of PROMIS PF and physical performance tests. The modified Physical Performance Test (mPPT), a multicomponent test of mostly timed items, was completed during the same session as the PROMIS PF scale. Regression analysis examined the relationship of mPPT total and component scores (walking velocity, stair ascent, and 5 times sit to stand) with the PROMIS PF scale T-scores. Normative data were compared with regression-predicted mPPT timed performance across PROMIS PF T-scores. The PROMIS PF items most similar to walking, stair ascent, or sit to stand were identified and then PROMIS PF model parameter–calibrated T-scores for these items were compared alongside normative data.

Results and Discussion:
There were statistically significant correlations (r = 0.32-0.64) between PROMIS PF T-score and mPPT total and component scores. Regression-predicted times for walking, stair ascent, and sit-to-stand tasks (based on T-scores) aligned with published normative values for older adults. Selected PF items for stair ascent and walking scaled well to discriminate increasing difficulty; however, sit-to-stand items discriminated only lower levels of functioning.

Conclusions:
The PROMIS PF T-scores showed convergent validity with physical performance and aligned with published normative data. While the findings are not predictive of individual performance, they improve clinical interpretation by estimating a range of expected performance for walking, stair ascent, and sit to stand. These findings support application of T-scores in physical therapy testing, goal setting, and wellness plans of care for community-dwelling older adults.
Assessment of Gait Speed in Older Adults
Authors: Mehmet Hanife , Robinson Stephen R. , Yang Angela Wei Hong 
Published: February 2019

Background and Purpose:
Gait speed is an important measure of functional ability and has been widely used in older adults as an indicator of frailty. However, the diversity in measurement protocols in clinical settings creates variability in outcome measures. The aim of this study was to systematically review the literature relating to the measurement of gait speed in older adults, to propose a protocol suitable for use in clinical and community settings.

Methods:
A total of 5 electronic English databases were searched (PubMed, EMBASE, AMED, CINAHL, and SPORTDiscus) using key words and synonyms related to gait speed.

Results:
Fifty relevant articles were identified, with variability being found between studies in the essential elements (timing device, walking distance, timing points, use of walking aids, pace of performance, and total tests recorded) of gait measurement. The majority of studies used unspecified timing devices while others used electronic gait mats or infrared beams linked to electronic stopwatches. Walking distance was assessed over distances between 2.4 and 15 m, with 4 m most commonly used. Most studies permitted the use of walking aids, with assessments being repeated at a usual pace, and the maximum value recorded in meters per second.

Conclusion:
A standardized measurement protocol is proposed for measuring gait speed in older adults.
Empowerment and associative process of rural women: a case study of rural areas in Bogotá and Cundinamarca, Colombia
Authors: Suárez Eliana , Mosquera Teresa , Del Castillo Sara 
Published: February 2019

There are no formal female food production organizations in the municipalities of Sibate, Sopo or Sumapaz (Bogotá rural area). Additionally, in the organizations in which women participate, they usually do not hold a decision-making position, which inhibits economic and social development despite the fact that women play an important role in the entire food system (production, preparation, consumption and food utilization). The aim of this research was to characterize the empowerment of rural women as a consequence of associative processes that contribute to food and nutrition security using the "descriptive case" qualitative research methodology. The main results indicated that, even though the participation of women in associative processes promotes decision-making, access to agricultural inputs, technical assistance and economic autonomy, there are still inequalities and inequities between men and women. For these reasons, it is necessary to strengthen associative processes with a cross-cutting gender approach and provide space for participation where both women and men analyze and question traditional roles in the household in order to transform inequity gaps and, therefore, contribute to food and nutrition security.
Prevalence of Chlamydia trachomatis infection diagnosed by polymerase chain reaction in female sex workers in a Northern Mexican City
Authors: Sánchez-Anguiano Luis Francisco , Velázquez-Hernández Nadia , Guerra-Infante Fernando Martín , Aguilar-Durán Marisela , Pérez-Álamos Alma Rosa , Estrada-Martínez Sergio , Navarrete-Flores José Antonio , Sandoval-Carrillo Ada Agustina , Antuna-Salcido Elizabeth Irasema , Hernández-Tinoco Jesús , Alvarado-Esquivel Cosme 
Published: February 2019

Purpose: We aimed to determine the association between Chlamydia trachomatis infection and female sex work, and the association between sociodemographic, obstetric, and behavioral characteristics of female sex workers and C. trachomatis infection.
Methods: Through a case–control study design, we studied 201 female sex workers and 201 age-matched women without sex work in Durango City, Mexico. C. trachomatis DNA was detected in cervical swab samples using polymerase chain reaction.
Results: C. trachomatis DNA was detected in 32 (15.9%) of the 201 cases and in 6 (3.0%) of the 201 controls (odds ratio [OR] = 6.15; 95% confidence interval [CI]: 2.5–15.0; P < 0.001). The frequency of infection with C. trachomatis in female sex workers did not vary (P > 0.05) regardless of the history of pregnancies, deliveries, cesarean sections, or miscarriages. Regression analysis of the behavioral characteristics showed that infection with C. trachomatis was associated only with consumption of alcohol (OR = 2.39; 95% CI: 1.0–5.71; P = 0.04).
Conclusions: We conclude that C. trachomatis infection is associated with female sex work in Durango City, Mexico. This is the first age-matched case–control study on the prevalence of C. trachomatis infection in female sex workers in Mexico using detection of C. trachomatis DNA in cervical samples.
Li–Fraumeni-szindróma
Authors: Sejben Anita , Tiszlavicz László , Polyák Kornélia , Kovács László , Maráz Anikó , Török Dóra , Leprán Ádám , Ottlakán Aurél , Furák József 
Published: February 2019

Abstract: Li-Fraumeni syndrome is a rare genetic disorder predisposing the individual to multiple different cancer types, caused by a germline mutation of the TP53 or CHEK2 genes inherited in an autosomal dominant manner. We hereby describe the case of a family with Li–Fraumeni syndrome. An asymptomatic 40-year-old female was diagnosed with primary lung leiomyosarcoma (T3N0), adenocarcinoma (T1aN0), and inflammatory myofibroblastic tumor, which were surgically removed without further treatment. Twenty months later she underwent surgery for retroperitoneal liposarcoma and even though she received adjuvant chemotherapy, deceased shortly after. Due to family history, the patient underwent TP53 mutation testing, using peripheral blood genomic DNA, which identified a heterozygous, likely pathogenic missense mutation (c.722C>G p.Ser241Cys) in case of the mother and her son. Three years after the patient’s death, her 17-year-old son was diagnosed with a 3.5 cm osteosarcoma of the right second rib, which was surgically removed, followed by adjuvant chemotherapy. However, despite treatment, he deceased after two years. Throughout four generations of the patient’s family, 10 malignant tumors (stomach-, breast-, 2 lung-, and colon cancer, leukemia, leiomyosarcoma, liposarcoma and 2 osteosarcoma) were diagnosed with a mean age of 43.2 (13–70 years) years. The simultaneous appearance of primary lung leiomyosarcoma, inflammatory myofibroblastic tumor and adenocarcinoma in the same organ is extremely rare. When possible, surgical resection should be carried out. Genetic testing for TP53 is recommended when family history is suggestive of Li–Fraumeni syndrome. Prognosis remains poor. Orv Hetil. 2019; 160(6): 228–234.
OS MINICONTOS DE TERROR NA FORMAÇÃO DO LEITOR NA EDUCAÇÃO DE JOVENS E ADULTOS
Authors: Moraes Zenilda Roza , Silva Veronice Camargo , Sant' Anna Sita Mara Lopes 
Published: February 2019

A presente pesquisa tem por objetivo refletir e apresentar como o gênero miniconto pode se constituir em instrumento para impulsionar o letramento literário, junto a estudantes da Educação de Jovens e Adultos - EJA, que frequentam o Ensino Fundamental. Para tanto, uma prática pedagógica foi desenvolvida, sob o olhar da pesquisa qualitativa e orientações da pesquisa-ação educacional. Deste modo, para embasar esta discussão e, sabendo-se da dificuldade em promover o interesse pela leitura neste contexto, com base nas demandas dos estudantes de EJA, pensou-se em um gênero que se constituísse na porta de entrada para outros contextos. Logo, os minicontos, mais especificamente, os minicontos de terror, foram selecionados por tratarem-se de narrativas curtas e criativas, além de oferecerem, aos alunos, o prazer que a escrita e a leitura podem proporcionar. Sendo assim, esta pesquisa adentrou nos estudos de Freire (1999, 2001, 2005) perpassando por Solé (1998), Todorov (2004), Gotlib (2006), Lois (2010), Cosson (2009), entre outros. Os resultados obtidos com este trabalho tornam-se relevantes, na medida em que a leitura de minicontos com a produção de “Terrorzines”, pelos estudantes, mostrou ser um bom incentivo à leitura e à escrita nesta modalidade de ensino, principalmente, por causar o envolvimento e o encantamento nos alunos, desde a maioria constituída por adolescentes e jovens, até os mais velhos. Palavras-chave: Educação de Jovens e Adultos; Minicontos; Letramento Literário; Fanzines.
La otredad Y LA DISCRIMINACIÓN DE GÉNEROS
Authors: Fandiño barros Yolanda alicia 
Published: February 2019

Las desigualdades entre los sexos no se pueden rectificar si no se tienen en cuenta los presupuestos sociales que han impedido la igualdad, especialmente los efectos generados por la división femenina y masculina. La marginaciónde las mujeres, la valoración inferior de los trabajos por ellas desempeñados, su responsabilidad por el trabajo doméstico, su prolongado abandono del mercado laboral, su insuficiente formación profesional, la introyección de unmodelo único de femineidad y el hecho de que, en muchos casos, ellas mismas no reconozcan su estatus de víctimas de la discriminación, requiere una perspectiva de análisis que explique la existencia de la violencia, su persistencia y la complicidad de las propias víctimas en su perpetuación.
Trombositoz saptanan çocuklarda klinik ve hematolojik profilin değerlendirilmesi
Authors: Oguz Melahat Melek , AÇOĞLU Esma Altınel 
Published: February 2019

Amaç: Trombositoz çocuklarda beklenmeyen bir bulgu olarak
karşımıza çıkmakta ve daha çok reaktif trombositoz görülmektedir.Bu çalışmanın amacı çocuklarda
trombositozun; sıklığını, nedenlerini, düzelme süresini, trombosit
parametreleri ve enfeksiyon belirteçleri ile korelasyonunu belirlemektir.Gereç ve Yöntemler:Ekim 2016 ile Mayıs 2018 tarihleri
arasında Dr. Sami Ulus Kadın Doğum ve Çocuk Sağlığı ve Hastalıkları Eğitim ve
Araştırma Hastanesinde 6 ay 18 yaş arası trombositoz saptanan çocukların dahil
edildiği tanımlayıcı bir çalışmadır.Bulgular: Toplam 107564 hastanın %10,8 (n=11643)’inde
trombositoz saptandı. Bu hastaların %64,5’i 6ay-2 yaş arası çocuklardan
oluşuyordu. Ciddi trombositozun 141(%1,2) hastada geliştiği görüldü.En sık
ciddi trombositoz nedenleri sırası ile 80 hastada (%56,8) enfeksiyonlar, 21
hastada anemi (%14,9), 14 (%9,9) hastada ise otoimmun hastalıklar idi. Ciddi
trombositozların ortalama düzelme süresi 40,2±34 gün (3-210) olarak hesaplandı.
Hastaların hiçbirinde tromboembolik komplikasyon görülmedi. Trombosit sayısı
ile ortalama trombosit hacmi arasında
istatistiksel olarak anlamlı negatif korelasyon olduğu görüldü (p&lt;0,05,
r=-0,214). Trombosit dağılım genişliği düzeyi ile trombosit sayısı arasında
korelasyon görülmedi (p=0,95). CRP düzeyi ile trombosit sayısı arasında istatistiksel
olarak anlamlı korelasyon saptanmadı (p=0,15).Trombosit sayısı ile
sedimantasyon hızı arasında ise istatistiksel olarak anlamlı korelasyon bulundu
(p&lt;0,05, r=0,233).

Sonuç: Çalışmamızda reaktif trombositozun sık rastlanılan
bir bulgu olduğunu ve bu büyük örneklemde primer trombositozun hiç görülmediğini, sekonder trombositozda altta yatan birçok farklı nedenin olabileceğini saptadık. Dolayısı
ile trombositozun ayırıcı tanısı ve yaklaşımı pediatri uzmanı tarafından
yapılmalıdır ve hematoloji bölümü konsültasyonu nadiren gerekmektedir. Özellikle
ciddi trombositozlarda gösterebildiğimiz enfeksiyon veya anemi yoksa kronik
inflamatuar hastalıkların altta yatan neden olabileceği unutulmamalıdır.
Analytics in Sports Medicine
Authors: Sikka Robby S. , Baer Michael , Raja Avais , Stuart Michael , Tompkins Marc 
Published: February 2019

* Analytics are increasingly being used in sports medicine and throughout orthopaedics.* Data collected by athletes and teams come in many forms, including wearable devices, smart apparel, and other modalities, and may include global positioning and accelerometry data, heart rate, and sleep data. There is increasing evidence to suggest that these data can help to direct injury prevention programs by identifying risk factors for injury in sports.* Biometric data collected from these devices may be analyzed with software packages, with add-on features for analysis of specific metrics such as accelerometry.* Ethical considerations regarding data collection, storage, and utilization have yet to be fully defined as data could be used by multiple parties with interests that may or may not coincide with the interests of the athlete.* Health-care providers will be increasingly expected to interpret and utilize data that patients provide them regarding performance and activity level.* At the time of writing, there were no valid algorithms, to our knowledge, for the use of devices to accurately predict sports-related injuries. Invalid algorithms may cause changes in training that may ultimately lead to injury, so cautious use of these devices is warranted.
Long-Term Survival of Retained Cementless Hip Stems at an Average of 13 Years After Isolated Cup Revision
Authors: Innmann Moritz M. , Peitgen David S. , Merle Christian , Bruckner Thomas , Gotterbarm Tobias , Moradi Babak , Streit Marcus R. 
Published: February 2019

Background:
Cementless stems demonstrate excellent long-term survival, but little is known about the long-term survival rate of the stem after isolated cup revision. The aim of the present retrospective cohort study was to determine the long-term survival rate of cementless stems retained after prior cup revision.

Methods:
We reviewed the clinical and radiographic results of 119 total hip arthroplasties (THAs) utilizing a cementless, grit-blasted, tapered titanium femoral stem that were performed in 113 patients between January 1985 and December 1989. The mean age at the time of the primary THA was 52 years (range, 16 to 74 years) and the mean time between primary THA and cup revision was 13 years (standard deviation [SD], 6 years; range, 0 to 30 years). At the time of the latest follow-up, no patient was lost to follow-up, 36 patients representing 37 hips had died, and 11 hips in 11 patients had required stem revision. The mean follow-up was 13 years following cup revision (SD, 6 years; range, 0 to 28 years). A competing risk analysis was performed to estimate the survival of the stem after isolated cup revision, with death being the competing risk factor.

Results:
At 20 years after cup revision, the survival rate of retained stems was 89% (95% confidence interval [CI], 79% to 94%) for the end point of stem revision for any reason and 97% (95% CI, 91% to 99%) for the end point of stem revision for aseptic loosening.

Conclusions:
The long-term survival of cementless stems retained after cup revision was excellent. Well-fixed cementless stems should be retained during cup revision for aseptic loosening.

Level of Evidence:

Level IV. See Instructions for Authors for a complete description of levels of evidence.