bluuebunny/crossref_metadata_2025_split huggingface dataset:
C1QTNF4 gene p.His198Gln mutation is correlated with early‐onset systemic lupus erythematosus in Iranian patients
Authors: Pakzad Bahram , Shirpour Reza , Mousavi Maryam , Karimzadeh Hadi , Salehi Amirhossein , Kazemi Mehdi , Amini Guilda , Akbari Mojtaba , Salehi Rasoul 
Published: October 2020

AbstractBackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease with multifactorial etiology. Several studies show that genetic factors have an important part in the incidence of SLE. The C1QTNF4 gene is involved in the regulation of the inflammatory pathways by pro‐inflammatory function. In the present study, we have evaluated the association between C1QTNF4 gene p.His198Gln mutation and risk of SLE.MethodsForty SLE patients and 40 control subjects were recruited in this case‐control study. Genotyping of C1QTNF4 p.His198Gln mutation was performed using real‐time polymerase chain reaction high resolution melting method.ResultsWe found a significant association between this mutation (GG + GC) with the risk of SLE (odds ratio = 6.33, 95% CI = 1.28‐31.11). Furthermore, we observed that in the patient group, this mutation leads to early‐onset SLE (19.7 ± 4.34 years for mutation carriers compared to 27.7 ± 11.4 years for wild type carriers; P = .003).ConclusionOur results suggest that this mutation (p.His198Gln) potentially has an important role in SLE risk in the Iranian population.
Clinicopathological characteristics of primary lung nuclear protein in testis carcinoma: A single‐institute experience of 10 cases
Authors: Cho Yoon Ah , Choi Yoon‐La , Hwang Inwoo , Lee Kyungjong , Cho Jong Ho , Han Joungho 
Published: October 2020

AbstractBackgroundNuclear protein in testis (NUT) carcinoma is a rare tumor associated with NUT rearrangement that can present as poorly differentiated to undifferentiated carcinoma, with or without abrupt squamous differentiation. It is often misdiagnosed as poorly differentiated carcinoma or undifferentiated carcinoma if NUT is not suspected. In this study, we retrospectively analyzed pulmonary NUT carcinoma cases diagnosed with NUT immunohistochemical staining and discuss the differential diagnosis to provide information for this rare and aggressive entity.MethodsCases, diagnosed as “NUT carcinoma” in lung pleura and “metastatic NUT carcinoma from the lung” in lymph nodes were diagnosed between 2017 and 2019 at the Samsung Medical Center (SMC). Clinical features such as age, sex, treatment and follow‐up period, and pathological reports were obtained by reviewing patients’ electronic medical records.ResultsA total of 10 NUT carcinoma cases were found in the SMC pathology database. Seven patients were men and six were non‐smokers. Tumor cells showed various cellular features such as round, squamoid, and spindle. Some cases had initially been misdiagnosed as spindle cell neoplasm, round cell sarcoma, squamous cell carcinoma and small cell carcinoma. All cases showed diffuse strong nuclear expression of NUT immunohistochemical staining, and some were positive for p63 staining and negative for CD56 staining.ConclusionsNUT carcinoma is often misdiagnosed because of its various morphologies. It is important to consider NUT as one of the differential diagnoses when encountering lung biopsy with undifferentiated morphology.Key points
Due to various morphological features, NUT carcinoma can be misdiagnosed
It is important to consider NUT carcinoma when diagnosing a poorly differentiated or undifferentiated tumor
Nursing Diagnosis of Grieving in Cases of Perinatal Loss: A Preliminary Clinical Validation
Authors: Paloma‐Castro Olga , Pastor‐Montero Sonia María , Carnicer Fuentes Concepción , Jesús Albar‐Marín María , Bas‐Sarmiento Pilar , Moreno‐Corral Luis Javier , Romero‐Sánchez José Manuel 
Published: October 2020

PURPOSETo develop a preliminary clinical validation the NANDA‐I nursing diagnosis “Grieving” in cases of perinatal loss.METHODSDescriptive cross‐sectional study using the Fehring model.FINDINGSThe overall clinical validity index for the diagnosis was 0.15. Only four defining characteristics and five manifestations identified in the literature were validated.CONCLUSIONSThe variability of manifestations identified in the study participants is considered to be detrimental to the overall clinical validity index.IMPLICATIONS FOR NURSING PRACTICEThe clinical validity of the diagnosis could not be substantiated by the preliminary results of this study and, therefore, additional research is necessary to determine the ability of the diagnosis to adapt to perinatal loss situations in real contexts. Some manifestations have been proposed to NANDA‐I for inclusion as defining characteristics in the nursing diagnosis of grieving.OBJETIVOValidar clínicamente de forma preliminar el diagnóstico enfermero NANDA‐I duelo en caso de pérdida perinatal.MÉTODOSEstudio descriptivo transversal usando el modelo de Fehring.RESULTADOSEl índice de validez clínica global del diagnóstico fue de 0.15. Se validaron únicamente cuatro características definitorias y cinco manifestaciones identificadas en la literatura.CONCLUSIONESSe considera que la variabilidad de las manifestaciones presentadas por los participantes actuó en detrimento del índice de validación clínica global.IMPLICACIONES PARA LA PRÁCTICA ENFERMERALa validez clínica del diagnóstico no pudo ser corroborada por los resultados preliminares de este estudio y, por tanto, se necesita investigación adicional para terminar la capacidad de este diagnóstico para adaptarse a las situaciones de pérdidas perinatales en contexto reales. Se han propuesto a NANDA‐I algunas manifestaciones para que sean incluidas como Características Definitorias del diagnóstico enfermero Duelo.
Age‐related impairment of declarative memory: linking memorization of temporal associations to GluN2B redistribution in dorsal CA1
Authors: Al Abed Alice Shaam , Sellami Azza , Potier Mylene , Ducourneau Eva‐Gunnel , Gerbeaud‐Lassau Pauline , Brayda‐Bruno Laurent , Lamothe Valerie , Sans Nathalie , Desmedt Aline , Vanhoutte Peter , Bennetau‐Pelissero Catherine , Trifilieff Pierre , Marighetto Aline 
Published: October 2020

AbstractGluN2B subunits of NMDA receptors have been proposed as a target for treating age‐related memory decline. They are indeed considered as crucial for hippocampal synaptic plasticity and hippocampus‐dependent memory formation, which are both altered in aging. Because a synaptic enrichment in GluN2B is associated with hippocampal LTP in vitro, a similar mechanism is expected to occur during memory formation. We show instead that a reduction of GluN2B synaptic localization induced by a single‐session learning in dorsal CA1 apical dendrites is predictive of efficient memorization of a temporal association. Furthermore, synaptic accumulation of GluN2B, rather than insufficient synaptic localization of these subunits, is causally involved in the age‐related impairment of memory. These challenging data identify extra‐synaptic redistribution of GluN2B‐containing NMDAR induced by learning as a molecular signature of memory formation and indicate that modulating GluN2B synaptic localization might represent a useful therapeutic strategy in cognitive aging.
Reconsidering alcohol treatment non‐responders: psychosocial functioning among heavy drinkers 3 years following treatment
Authors: Pearson Matthew R. , Wilson Adam D. , Richards Dylan K. , Witkiewitz Katie 
Published: October 2020

AbstractBackground and aimsPsychosocial functioning among individuals who exceed low‐risk drinking limits (exceed three to four standard drinks for women/men) is heterogeneous. Among those who receive treatment for alcohol use disorder (AUD), recent research found that more than one‐half of those who exceeded low‐risk limits (i.e. treatment non‐responders) reported good psychosocial functioning, commensurate with those who were abstinent or low‐risk drinkers (i.e. treatment responders) up to 1 year following treatment. This study aimed to determine if good levels of psychosocial functioning are maintained beyond 1 year.DesignSecondary analysis of 3‐year follow‐up data from Project MATCH (Matching Alcoholism Treatment to Client Heterogeneity) and the Combined Pharmacotherapies and Behavioral Interventions study (COMBINE), multi‐site alcohol clinical trials conducted in the United States.SettingEleven sites in COMBINE and nine sites in Project MATCH.ParticipantsIndividuals with AUD from COMBINE and Project MATCH (n = 1383 and n = 1726) characterized in terms of drinking/functioning at 1‐year follow‐up and retained at 3‐year (n = 641 and n = 790) post‐treatment follow‐ups.MeasurementsAlcohol consumption measured by Form‐90 and psychosocial functioning assessed by various instruments at 3 years post‐treatmentFindingsHigh‐functioning non‐responders at 1 year post‐treatment maintained a high level of functioning 2 years later and were not significantly different from the abstainers/low‐risk drinkers on any functional outcomes (e.g. SF12 Mental Health Mean difference: –1.38 [95% confidence interval (CI) = −4.34, 1.57), SF12 Physical Health Mean difference: –0.43 (95% CI = −2.28, 3.13)].ConclusionsApproximately one‐half of those who engage in some heavy drinking in the year following treatment for alcohol use disorder appear to maintain high levels of psychosocial functioning up to 3 years following treatment.
The relationships between the myocardial bridge and ramus interventricularis paraconalis characteristics in lamb and sheep
Authors: Gulmez Nurhayat , Sah Huseyin 
Published: October 2020

AbstractThe myocardial bridge (MB) is an anomaly that the myocardial fibres cover on a segment of the subepicardial coronary arteries or their branches in domestic animals and humans. The aim of the present study was to determine the relationships between the characteristics of the MB and ramus interventricularis paraconalis at three levels in lambs and adult sheep. Thirty‐three hearts (16 lambs and 17 sheep) were used to determine the MB (length, angle and thickness) and vessel (vessel diameter and thicknesses of tunica intima et media of ramus interventricularis paraconalis) characteristics. Independent‐samples t test was applied to compare variables between lambs and sheep. Spearman's correlation analysis was conducted to evaluate the relationships between bridge and vessel characteristics at three bridge levels. Length, angle and thickness of myocardial bridges were not significantly different between the lambs and sheep (p > .05). The mean length, angle and thickness were 24.9 ± 16.1 mm, 113.7 ± 11.2° and 1,098 ± 555 µm in 33 hearts, respectively. In lambs, the mean vessel diameters were 1,930 ± 742 µm (1,534–2,325 µm), 1,247 ± 665 µm (893–1,601 µm) and 865 ± 172 µm (774–957 µm) at the pre‐bridge, bridge and post‐bridge levels, respectively. In sheep, the mean vessel diameters in the same order were 1,861 ± 1,068 µm, 1,337 ± 308 µm and 1,287 ± 549 µm. The bridge prevalence was 100% in the samples examined. In conclusion, coronary arterial diseases related to myocardial bridge should not be expected in sheep for veterinary cardiology practice. It may also be concluded that the cross‐breeds of the Awassi and Chios sheep may be useful in experimental studies related to myocardial bridge surgery.
Surviving at the extreme: Chimpanzee ranging is not restricted in a deforested human‐dominated landscape in Uganda
Authors: McLennan Matthew R. , Hintz Benjamin , Kiiza Vicent , Rohen Jacqueline , Lorenti Georgia A. , Hockings Kimberley J. 
Published: October 2020

AbstractEndangered wildlife increasingly inhabits human‐dominated landscapes outside protected areas. Large‐bodied mammals require large spaces, and their ranging may be especially impacted by landscape modifications including farming, road development and urbanisation. We studied the Wagaisa community of chimpanzees (Pan troglodytes) in Uganda, which inhabit a landscape characterised by high human population density, widespread deforestation, and rapid agricultural and infrastructural development. We aimed to assess whether this dynamic, fragmented environment constrains the chimpanzees’ ranging, and to identify critical habitat patches to aid their conservation. During March–May 2018, we assessed range use from locations of direct observations and indirect signs, corroborated by longer‐term behavioural monitoring of the chimpanzees (June 2018–December 2019). No evidence of limited ranging was found. The Wagaisa chimpanzees used an area measuring ≥ 43 km2 (100% MCP) and ranged extensively in the anthropogenic matrix. Most frequently used parts of the range (‘core habitat areas’) centred around small (5–20 acres), widely dispersed remnant forest patches and exotic eucalyptus plantations. Forty per cent of chimpanzee nests were constructed in eucalyptus trees, suggesting a behavioural adjustment to landscape changes. Actions to facilitate conservation of these ‘village chimpanzees’ and others surviving in transformed human‐dominated habitat need not conflict with the sustainable development of the region.
EyeSi Surgical Simulator: validation of a proficiency‐based test for assessment of vitreoretinal surgical skills
Authors: Jaud Charlotte , Salleron Julia , Cisse Cécile , Angioi‐Duprez Karine , Berrod Jean‐Paul , Conart Jean‐Baptiste 
Published: October 2020

AbstractPurposeTo develop and investigate an evidence‐based performance test for assessment of vitreoretinal surgical skills on the EyeSi Surgical Simulator.MethodsTen junior residents without any surgical experience, eight senior residents with prior experience in cataract surgery and five vitreoretinal surgeons were included in the study. The test consisted of seven modules and was completed twice by all groups during a single session. Validity evidence was evaluated using Messick’s validity framework. Senior residents completed four additional test sessions and were retested 3 months after to assess skill acquisition and retention.ResultsContent was aligned with vitreoretinal surgical skills as evaluated by expert surgeons. Response process was ensured through standardized instruction and data collection. The test showed satisfactory internal consistency with Cronbach’s α = 0.76 (internal structure) and significant discriminative ability between the residents and the experienced surgeons (relation to other variables). A pass/fail level was determined at 596 using the contrasting groups’ method. Consequences of applying this standard resulted in no false positive and no false negative.Senior residents significantly improved their simulator skills over time, reaching a plateau at the fifth iteration and equalling expert performance (p = 0.420). This level of competency was retained during the post‐3‐month retention testing (p = 0.062).ConclusionWe established a performance test with solid evidence for assessment of vitreoretinal surgical skills on the EyeSi Simulator and determined a benchmark criterion that may be used for future implementation of proficiency‐based training for novices.
Pharmacological data of a successful 4‐days‐a‐week regimen in HIV antiretroviral therapy (ANRS 162‐4D trial)
Authors: Abe Emuri , Assoumou Lambert , de Truchis Pierre , Amat Karine , Gibowski Séverine , Gras Guillaume , Bellet Jonathan , Saillard Juliette , Katlama Christine , Costagliola Dominique , Girard Pierre‐Marie , Landman Roland , Alvarez Jean‐Claude 
Published: October 2020

IntroductionFew data are available on plasma concentrations of antiretroviral therapy (ARV) during intermittent treatment.ObjectiveTo compare plasma concentrations in OFF vs ON treatment periods at several time points during treatment.MethodsDuring a successful 48‐week multicenter study (ANRS 162‐4D trial) of 4 days with treatment (ON) followed by 3 days without treatment (OFF) in adults treated by two nucleoside analogues and a third agent belonging to a boosted protease‐inhibitor (PI, darunavir [DRV], atazanavir [ATV], lopinavir [LPV]) or a non‐nucleoside‐reverse‐transcriptase inhibitor (NNRTI, efavirenz [EFV], etravirine [ETR], rilpivirine [RPV]) conducted in 100 patients (96% success), we determined the plasma concentrations of ARV. Blood samples were collected for analysis at inclusion (W0, 7/7 strategy for all patients), W16 and W40 (ON) and at W4, W8, W12, W24, W32 and W48 (OFF).ResultsA total of 866 samples was analysed. Plasma concentrations were not statistically lower after 4 days (ON) vs 7/7 days of treatment except for RPV (−30 ng/mL at 4/7, P = 0.003). Significant lower plasma concentrations were observed for OFF vs ON except for ETR (n = 5, P = 0.062). Overall, 87.1% of ON concentrations (ATV 92.1%, DRV 51.1%, LPV 62.5%, EFV 94.4%, ETR 100% and RPV 94.9%) and 21.8% of OFF concentrations (ATV 1.4%, DRV 0.0%, LPV 0.0%, EFV 16.0%, ETR 92.6% and RPV 39.0%) were above the theoretical limit of efficacy of the molecule. In the OFF period, 85.8% of PI concentrations were under the limit of quantification, while 98.0% of NNRTI concentrations were quantifiable.ConclusionDespite low/undetectable PI/NNRTI plasma concentrations in the OFF period, patients maintained an undetectable viral load. The mechanistic explanation should be investigated.
Alectinib for relapsed or refractory anaplastic lymphoma kinase‐positive anaplastic large cell lymphoma: An open‐label phase II trial
Authors: Fukano Reiji , Mori Tetsuya , Sekimizu Masahiro , Choi Ilseung , Kada Akiko , Saito Akiko Moriya , Asada Ryuta , Takeuchi Kengo , Terauchi Takashi , Tateishi Ukihide , Horibe Keizo , Nagai Hirokazu 
Published: October 2020

AbstractAnaplastic lymphoma kinase (ALK) inhibition is expected to be a promising therapeutic strategy for ALK‐positive malignancies. We aimed to examine the efficacy and safety of alectinib, a second‐generation ALK inhibitor, in patients with relapsed or refractory ALK‐positive anaplastic large cell lymphoma (ALCL). This open‐label, phase II trial included patients (aged 6 years or older) with relapsed or refractory ALK‐positive ALCL. Alectinib 300 mg was given orally twice a day (600 mg/d) for 16 cycles, and the duration of each cycle was 21 days. Patients who weighed less than 35 kg were given a reduced dose of alectinib of 150 mg twice a day (300 mg/d). Ten patients were enrolled, and the median age was 19.5 years (range, 6‐70 years). Objective responses were documented in eight of 10 patients (80%; 90% confidence interval, 56.2‐95.9), with six complete responses. The 1‐year progression‐free survival, event‐free survival, and overall survival rates were 58.3%, 70.0%, and 70.0%, respectively. The median duration of therapy was 340 days. No unexpected adverse events occurred. The most common grade 3 and higher adverse event was a decrease in neutrophil count in two patients. Alectinib showed favorable clinical activity and was well tolerated in patients with ALK‐positive ALCL who had progressed on standard chemotherapy. Based on the results of the current study, the Ministry of Health, Labour and Welfare of Japan approved alectinib for the treatment of recurrent or refractory ALK‐positive ALCL in February 2020.
Inhalation challenge test using pigeon eggs for chronic hypersensitivity pneumonitis
Authors: Okuda Ryo , Takemura Tamiko , Mikami Yu , Hagiwara Eri , Iwasawa Tae , Baba Tomohisa , Kitamura Hideya , Komatsu Shigeru , Okudela Koji , Ohashi Kenichi , Ogura Takashi 
Published: October 2020

AbstractBackgroundChronic hypersensitivity pneumonitis (CHP) remains a diagnostic challenge. The process of collecting and extracting serum and droppings from causative animals for the inhalation challenge test is complicated and the risk of inducing disease progression exists.ObjectiveTo investigate the utility and safety of an inhalation challenge test using pigeon eggs.MethodsPigeon eggs were pasteurized and mixed with a saline solution to produce an inhalation fluid. An inhalation challenge test was conducted on 19 patients with bird‐related CHP and 17 patients with interstitial lung disease other than bird‐related CHP. To identify antigens in pigeon eggs, the antigen‐antibody responses of the pigeon eggs and serum from patients were evaluated using Western blotting.ResultsThe mean changes in C‐reactive protein, alveolar‐arterial oxygen difference, erythrocyte sedimentation rate, and lactate dehydrogenase significantly increased by 0.32 mg/dL (P = .014), 7.8 Torr (P = .002), 1.4 mm/h (P = .012), and 5.4 U/mL (P = .0019), respectively, in bird‐related CHP group compared to the control 24 hours after the inhalation challenge test. Furthermore, within 24 hours of the inhalation test, the mean forced vital capacity decreased by 2.3% in the bird‐related CHP group compared with a decline of 0.05% in the control group (P = .035). Serum collected from seven bird‐related CHP patients who underwent the inhalation challenge test and reacted to antigens with molecular weights of 37‐75 KDa, and these molecular weights were consistent with egg albumin and globulin.ConclusionSince a mild response was observed after the inhalation challenge test using pigeon eggs, this test was an obvious candidate for diagnosing bird‐related CHP.
Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects
Authors: Yang Ping , Yin Changjian , Li Mei , Ma Shuiying , Cao Yongzhi , Zhang Changming , Chen Tailai , Zhao Han 
Published: October 2020

AbstractVariants of tubulin beta 8 class VIII (TUBB8) have been shown to be associated with female infertility characterized by oocyte or embryonic defects. To further investigate the mutational spectrum of TUBB8 and the prevalence of variants, we performed Sanger sequencing of TUBB8 on a total of 115 infertile females who had undergone repeated in vitro fertilization cycles with oocyte or embryonic defects and 200 healthy controls. A total of 31 variants which were absent from the controls were identified in 36 unrelated individuals, accounting for a large proportion of this cohort (31.3%). All of the variants including heterozygous/homozygous missense variants and a heterozygous frameshift insertion variant were at conserved sites and predicted to be deleterious. Besides, these variants had diverse phenotypic effects, including not only oocyte maturation arrest, fertilization failure, and early embryonic arrest, but also multi‐pronuclei (MPN) formation, which is a new phenotype associated with TUBB8 variants. Overall, this study reveals a large number of variants of the TUBB8 gene in infertile females with oocyte or embryonic defects. Our results not only broaden the mutational and phenotypic spectra of TUBB8 variants, but also further confirm the critical role of TUBB8 in oocyte maturation, fertilization, and early embryonic development.