bluuebunny/crossref_metadata_2025_split huggingface dataset:
Trends in Antiseizure Medication Prescribing Among Nursing Home Residents With and Without a Seizure Diagnosis
Authors: Winter Jonathan D. , Kerns J. William , Winter Katherine M. , Richards Alicia , Sabo Roy T. 
Published: August 2023

Objectives:
Evaluate current prevalence and changes in prescribing of antiseizure medications (ASMs) in Virginia nursing homes for residents with and without seizures.

Methods:
Retrospective cohort. De-identified claims extracted from the Virginia All-Payers-Claims-Database defined annual and biennial cohorts of all insured long-stay residents with and without any claims-based seizure diagnoses. ASM prescribing prevalence rates for these cohorts were analyzed from 2011 to 2016. Multiple logistic regression compared prescribing prevalence rates within and between these 2 groups.

Results:
Annual cohorts averaged 57,190. 65.6% Female, 38% white. 80% public insurance, 20% commercial secondary. Between 2011 and 2016, the claims-based prevalence of seizure diagnoses decreased (17.1% to 10.5%). However, ASM prescribing prevalence increased (10.4% to 11.6%). Increases were entirely among residents who never had any seizure-epilepsy claim, whereas ASM prescribing among residents with seizures decreased. Different drugs were used for patients with and without seizures. For residents without seizures, 85% of ASMs prescribed have alternative indications for mood or pain symptoms, and large gains in gabapentin and modest but significant increases in valproate, lamotrigine, carbamazepine, and topiramate prescribing were detected. Among residents with seizures, ASMs without alternative indications were more common (59%), with marked reductions in phenobarbital and phenytoin but significant increases in levetiracetam and lacosamide use observed.

Conclusions:
Long-stay ASM use is changing. ASM gains are unrelated to seizure-epilepsy prevalence. ASM prescribing increased only among residents without seizures, where ASMs with expanded indications were preferred. Long-stay ASM prescribing and prescribing indication should be included in mandatory CMS reporting similar to other CNS-active medications.
Endometrial/Endometrioid Stromal Tumors With Extensive Whorling and CTNNB1 Translocation
Authors: Boyraz Baris , da Cruz Paula Arnaud , Deveraux Kelly A. , Tran Ivy , da Silva Edaise M. , Young Robert H. , Snuderl Matija , Weigelt Britta , Oliva Esther 
Published: August 2023

Endometrial/endometrioid stromal tumors are rare and morphologically heterogenous, and their diagnosis may be challenging. We identified 3 endometrial/endometrioid stromal tumors with identical and previously undescribed histologic features and herein report their morphologic, immunohistochemical, and molecular profiles. Patients were 53, 62, and 79 years. Tumors were well-circumscribed, tan-yellow solid masses measuring 10.0, 11.0, and 18.7 cm, and were intramyometrial (n=2) or in the broad ligament (n=1). All showed small, tight whorls of epithelioid to slightly spindled tumor cells with minimal cytoplasm and negligible mitoses, multifocally associated with hyalinization and myxoid change set in a loose fibroblastic background with small, delicate vessels. This morphology was seen throughout in 1 tumor and in ∼20% and 70% of the 2 others with the remaining areas showing sex cord–like differentiation. Tumor cells expressed CD10 (3/3, 1 focal), calretinin (3/3 diffuse), WT1 (3/3 diffuse), estrogen receptor (1/1, diffuse). RNA-sequencing was successful in 1 tumor and revealed aGREB1-CTNNB1in-frame fusion. All 3 tumors harbored aCTNNB1translocation by fluorescence in situ hybridization correlating with nuclear β-catenin expression. Whole-genome DNA methylation analysis classified all 3 tumors within the low-grade endometrial stromal sarcoma reference class with flat copy number profiles. One patient (79-y-old) died of unrelated causes 2 months after surgery and the other 2 were alive without disease after 13 and 75 months. We have described a rare subset of endometrial/endometrioid stromal tumors with extensive whorling and aCTNNB1translocation, expanding the morphologic and molecular spectrum of these neoplasms.
Exploratory Study of a New Technique of Pixelated Chromoendoscopy in the Diagnosis of Early Esophageal Cancer
Authors: Su Zhe , Chen Wei , Cao Xiangming , Deng Lichun , Zhang Yongqiang 
Published: August 2023

Background:
Chromoendoscopy is an effective method for early screening of esophageal cancer, but diagnosis can depend on subjective judgment. The study aimed to explore a new technique of pixelated chromoendoscopy in the diagnosis of early esophageal cancer.

Patients and Methods:
The study included patients with symptoms of esophageal cancer who attended Jiangyin People’s Hospital between January 2015 and July 2021. Chromoendoscopy was performed on each patient. The images then underwent digital analysis; the lesion area (the sensitive region) was pixelated by dividing it into the smallest image unit and the red, green, and blue color components. The diagnostic performance of pixelated chromoendoscopy was evaluated by calculating the area under the receiver operating characteristic.

Results:
The study finally enrolled 86 patients (aged 51.34 ± 5.82 y), including 54 males and 32 females. Pathologic diagnosis identified 54 cases in the cancer group and 32 cases in the non-cancer group. Traditional judgment had a diagnostic sensitivity of 70.73% and specificity was 75.00%. Pixelated chromoendoscopy sensitivity was 80.49%, and specificity was 83.33%. The area under the receiver operating characteristic was 0.814, at a cutoff value of 0.625, indicating a good prediction effect.

Conclusions:
These results showed that pixelated chromoendoscopy might improve the rate of esophageal cancer diagnoses from early screening.
Outcomes of Non-intubated Versus Intubated Thoracoscopic Surgery for Primary Spontaneous Pneumothorax
Authors: Yanik Fazli , Karamustafaoglu Yekta Altemur , Yoruk Yener 
Published: August 2023

Background:
This study aimed to compare the outcomes of non-intubated video-assisted thoracic surgery (N-VATS) and intubated video-assisted thoracic surgery (I-VATS) for primary spontaneous pneumothorax (PSP).

Materials and Methods:
We retrospectively analyzed 120 consecutive patients who underwent VATS for PSP. The patients were divided into N-VATS and I-VATS groups. Demographics, clinical characteristics, postoperative results, pain scores, follow-up results, and management were evaluated and compared between the groups. Local anesthesia and deep sedation (ketamine 2 mg/kg IV and propofol 2 mg/kg IV slow infusion) were administered under spontaneous ventilation in the N-VATS group.

Results:
The groups did not differ significantly in terms of age, sex, American Society of Anesthesiology score, pneumothorax side, or smoking history (P>0.05). The mean operation time, anesthesia time, oral intake opening time, and mobilization time were significantly shorter in the N-VATS group (26.04±4.61 vs. 48.26±7.82 min, 42.14±6.40 vs. 98.16±12.4 min, 2.1±0.4 vs. 8.4±1.2 h, and 4.2±0.9 vs. 2.6±1.4 between N-VATS and I-VATS, respectively; P<0.05). The surgical outcomes did not differ in terms of minor complications (12%-13%) and recurrence rates (5.1%-6.4%) during a mean follow-up period of 88.4±10.2 mo. No cases of conversion to open surgery or mortality were observed. General anesthesia and intubation were not required for any patient in the N-VATS group.

Conclusions:
Our results revealed no differences in minor complications or recurrence rates between groups. However, the N-VATS group had significantly shorter operation, anesthesia, oral intake opening, and mobilization times. The most important advantage of N-VATS for PSP is its fast recovery while avoiding the risks of general anesthesia and intubation. Further prospective studies with larger sample sizes are warranted.
How to enlarge lesion size in temperature control mode using an irrigation catheter with a flexible-tip of laser-cut kerfs
Authors: Takigawa Masateru , Yamaguchi Junji , Goya Masahiko , Iwakawa Hidehiro , Yamamoto Tasuku , Iwakawa Hidehiro , Amemiya Miki , Ikenouchi Takashi , Negishi Miho , Kawamura Iwanari , Goto Kentaro , Shigeta Takatoshi , Nishimura Takuro , Takamiya Tomomasa , Tao Susumu , Ohuchi Katsuhiro , Suzuki Sayaka , Miyazaki Shinsuke , Sasano Tetsuo 
Published: August 2023

AbstractBackground & ObjectivesThe TactiFlexTMSE irrigation catheter installs a laser-cut flexible tip with a thermocouple embedded 0.3mm from the tip, being used with temperature-control mode. We aimed to elucidate a safer method to enlarge the lesion size using this catheter.MethodsRF-applications were performed at a range of powers (35W, 40W, and 45W), CFs (10g/20g), and durations (60s, 120s, and 180s) using perpendicular/parallel catheter orientation with normal saline irrigation (NS-irrigation) and Half NS-irrigation (HNS-irrigation) in an ex-vivo model (Step 1). Further, similar RF-applications of 35W/40W/45W for 60s/120s/180 in NS-irrigation and 35W/40W for 60s/120s/180s in HNS-irrigation) were performed in 4 swine (Step 2). Lesion characteristics and the incidence of steam-pops were assessed.ResultsIn this ex-vivo experiment, 47(16.3%) steam-pops (13 in NS-irrigation vs 34 in HNS-irrigation, p=0.001) were observed in 288 lesions. In NS-irrigation group, the most aggressive setting (45W/180s, n=7/13, 54%) played a large part of steam-pop occurrence. Lesion size proportionally increased with longer ablation duration, but not with HNS-irrigation. The optimal cut-off of %impedance-drop to predict steam-pops was 20% with the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of 78.3%, 80.6%, 43.4%, and 95.1%, respectively. In the in-vivo experiment, steam-pops were not observed with NS-irrigation (n=0/35), but were with HNS-irrigation (6/21, 29%). Lesion size proportionally increased with longer ablation duration, but not with HNS-irrigation partially because of the higher incidence of temperature-guard use (p=0.07). The optimal cut-off of %impedance-drop to predict steam-pops was 24% with the sensitivity= 83.0%, specificity=52.0%, PPV= 17.2%, and NPV= 96.3%, respectively, but 20% may be used with a safety margin.ConclusionsAlthough this novel catheter is generally safe, increasing ablation duration instead of using HNS-irrigation may be recommended for larger lesions.
Divergent Neuroimmune Signatures in the Cerebrospinal Fluid Predict Differential Gender-Specific Survival Among Patients With HIV-Associated Cryptococcal Meningitis
Authors: Okurut Samuel , Boulware David R , Okafor Elizabeth , Rhein Joshua , Kajumbula Henry , Bagaya Bernard , Bwanga Freddie , Olobo Joseph O , Manabe Yukari C , Meya David B , Janoff Edward N ,   ASTRO trial team
Published: August 2023

ABSTRACTSurvival among people with HIV-associated cryptococcal meningitis (CM) remains low, exceptionally among women with the increased threat of death on current optimal use of antifungal drugs.Cryptococcusdissemination into the central nervous system (CNS) prompts a neuroimmune reaction to activate pathogen concomitant factors. However, no consistent diagnostic or prognostic immune-mediated signature is reported to underpin the risk of death or mechanism to improve treatment or survival. We theorized that the distinct neuroimmune cytokine or chemokine signatures in the cerebrospinal fluid (CSF), distinguish survivors from people who died on antifungal treatment, who may benefit from tailored therapy. We considered the baseline clinical disease features, cryptococcal microbiologic factors, and CSF neuroimmune modulated signatures among 419 consenting adults by gender (biological sex assigned at birth) (168 females and 251 males) by 18 weeks of survival on antifungal management. Survival at 18 weeks was inferior among females than males (47% vs. 59%; hazard ratio HR=1.4, 95% CI: 1.0 to 1.9, and p=0.023). Unsupervised principal component analysis (PCA) demonstrated the divergent neuroimmune signatures by gender, survival, and intragender-specific survival. Overall, females displayed lower levels of PD-L1, IL-1RA, and IL-15 than males (all p≤0.028). Female survivors compared with those who died, expressed significant fold elevations in levels of CSF (CCL11 - myeloid and CXCL10 - lymphoid chemokine (in both p=0.001), and CSF Th1, Th2, and Th17 cytokines. In contrast, male survivors expressed distinctly lower levels of CSF IL-15 and IL-8 compared with those who died. Survivors of either gender demonstrated a significant increase in the levels of immune regulatory element, IL-10. In the finale, we classified divergent neuroimmune key signatures in CSF by gender, survival, and intragender-specific survival among people with HIV-associated cryptococcal meningitis. These intragender-specific survival associated-neuroimmune signatures, suggests the discrete role of gender immune regulating mechanisms as the possible targets for interventions to advance therapy to improve survival among people with HIV-associated cryptococcal meningitis.
Twenty-four hour activity-count behavior patterns associated with depressive symptoms: A big data-machine learning approach
Authors: Nawrin Saida Salima , Inada Hitoshi , Momma Haruki , Nagatomi Ryoichi 
Published: August 2023

AbstractDepression is a global burden with profound personal and economic consequences. Previous studies have reported that the amount of physical activity is associated with depression. However, the relationship between the temporal patterns of physical activity and depressive symptoms is poorly understood. We hypothesize that the temporal patterns of daily physical activity could better explain the association of physical activity with depressive symptoms. To address the hypothesis, we investigated the association between depressive symptoms and daily dominant activity behaviors based on 24-hour temporal patterns of physical activity. We found that evening dominant behavior was positively associated with depressive symptoms compared to morning dominant behavior as the control group. Our results might contribute to monitoring and identifying individuals with latent depressive symptoms, emphasizing the importance of nuanced activity patterns and their probability of assessing depressive symptoms effectively.
High Extracellular-to-Intracellular Water Ratio in Limb Muscles is Associated with Low Muscle Strength in Patients with Heart Failure
Authors: Nakamura Kensuke , Kinugasa Yoshiharu , Sota Takeshi , Hirai Masayuki , Kato Masahiko , Yamamoto Kazuhiro 
Published: August 2023

AbstractBackgroundA high extracellular water (ECW) to intracellular water (ICW) ratio of skeletal muscle as assessed by bioelectrical impedance analysis is reportedly associated with loss of muscle strength. However, the validity of this index for heart failure (HF), which is likely associated with changes in the water distribution, is unclear.MethodsThis study involved 190 patients with HF. The total ECW and ICW of both upper and lower extremities were measured, and a high ECW/ICW ratio was defined as an ECW/ICW ratio higher than the median (≥0.636 for men, ≥0.652 for women). Low muscle strength was defined as reduced handgrip strength according to the criteria established by the Asian Working Group for Sarcopenia.ResultsPatients with a high ECW/ICW ratio were older, had a higher left ventricular ejection fraction and B-type natriuretic peptide level, and had a lower body mass index, hemoglobin level, albumin level, estimated glomerular filtration rate, handgrip strength, and 6-minute walk distance than patients with a low ECW/ICW ratio (p < 0.05). An increasing ECW and/or decreasing ICW was associated with a higher ECW/ICW ratio (p < 0.05). In the multivariate logistic regression analysis, a high ECW/ICW ratio and low skeletal muscle mass were independently associated with low muscle strength (p < 0.05).ConclusionA high ECW/ICW ratio in limb muscles (i.e., an increasing ECW and/or decreasing ICW) is independently associated with muscle weakness regardless of skeletal muscle mass in patients with HF.What Is New?◆A high extracellular water (ECW) to intracellular water (ICW) ratio of skeletal muscle as assessed by bioelectrical impedance analysis was independently associated with low muscle strength regardless of skeletal muscle mass in patients with heart failure (HF).◆Both an increasing ECW and decreasing ICW were independently associated with low muscle strength in patients with HF.What Are the Clinical Implications?◆The ECW/ICW ratio in limb muscles is a new index that can be used to assess muscle function apart from muscle mass in patients with HF.
Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy
Authors: Kovanda Anja , Lovrečić Luca , Rudolf Gorazd , Bozovic Ivana Babic , Jaklič Helena , Leonardis Lea , Peterlin Borut 
Published: August 2023

AbstractBackgroundFacioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of theDUX4gene. Traditional diagnostics is based on Southern blot, a time- and effort-intensive method that can be affected by single nucleotide (SNV), and copy number variants (CNV), as well as by the similarity of the D4Z4 repeats located on chromosome 10. We aimed to evaluate optical genome mapping (OGM) as an alternative molecular diagnostic method for the detection of FSHD.MethodsWe first performed optical genome mapping with EnFocus™ FSHD analysis using DLE-1 labeling and the Saphyr instrument, for our patients with inconclusive diagnostic Southern blot results, negative FSHD2 results, and clinically evident FSHD. Secondly, we performed OGM in parallel with the classical Southern blot analysis for our prospectively collected new FSHD cases. Finally, we used panel exome sequencing to confirm FSHD2.ResultsBy using OGM we could resolve two cases with diagnostically inconclusive Southern blot results as having shortened D4Z4 repeats on the permissive 4qA allele, consistent with their clinical presentation. Results of the prospectively collected patients tested in parallel using Southern blot and OGM showed full concordance, showing OGM to be a useful alternative to the classical Southern blot method for detecting FSHD1. For a patient showing clinical FSHD but no shortened D4Z4 repeat on the 4qA allele using OGM or Southern blot, a likely pathogenic variant inSMCHD1was detected using exome sequencing, confirming FSHD2. OGM and panel exome sequencing can be used consecutively to detect FSHD2.
Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic
Authors: Hussein Yara , Weisblum-Neuman Hila , Ben-Zeev Bruria , Stern Shani 
Published: August 2023

AbstractObjectiveEpilepsy is a chronic neurological disorder related to various etiologies and the prevalence of active epilepsy is estimated to be between 4-10 per 1000 individuals having a significant role of genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, still, a substantial proportion of the results remain uncertain and are not considered directly causative of epilepsy. This study aimed to reevaluate pediatric patients diagnosed with epilepsy who underwent genetic investigation using NGS panels, focusing on inconclusive variant findings or multiple Variants of Uncertain Significance (VUSs).MethodsA subgroup of pediatric patients aged 0-25 years, diagnosed with epilepsy, who underwent genetic investigation with an NGS epilepsy panel at the Child Neurology Unit, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, between 2018-2022 through Invitae, was reevaluated. Patients with inconclusive variant findings or multiple VUSs in their test results were included. Genetic data were analyzed, focusing on identifying potentially pathogenic variants and frequent genetic combinations.ResultsTwo unrelated potentially pathogenic variants were identified in the SCN9A and QARS1 genes. A frequent genetic combination, RANBP2&RYR3, was also observed among other combinations. The RANBP2 gene consistently co-occurred with RYR3 variants in uncertain results, suggesting potential pathogenicity. Analysis of unaffected parents’ data revealed certain combinations inherited from different parents, suggesting specific gene combinations as potential risk factors for the disease.SignificanceThis study highlights the importance of reevaluating genetic data from pediatric epilepsy patients with inconclusive variant findings or multiple VUSs. Identification of potentially pathogenic variants and frequent genetic combinations, such as RANBP2&RYR3, could aid in understanding the genetic basis of epilepsy and identifying potential hotspots.Plain Language SummaryWe have performed a retrospective analysis on a subpopulation of pediatric patients diagnosed with epilepsy, we have found that specific genetic variants were repeatable indicating their potential pathogenicity to the disease.Key points60% of pediatric patients undergoing genetic testing receive an uncertain result emphasizing the complexity of genetic interpretation in epilepsy diagnostics.Pathogenic variants in genes like SCN1A were common, underlining the importance of targeted gene sequencing.Variants in genes like SCN9A and QARS1, currently classified as VUSs, showed consistent presence in epilepsy patients, indicating potential pathogenicity.Specific genetic combinations, such as RANBP2&RYR3, were frequently observed among uncertain results, suggesting potential pathogenicity.
The social determinants associated with the advanced stage diagnosis of breast cancer in Egypt
Authors: Fekry Madonna A. , Kassem Loay , Yang Justin C. , Azim Hamdy A. 
Published: August 2023

AbstractBackgroundMajority of Egyptian breast cancer (BC) patients present at advanced stages. We examined the sociodemographic and clinical factors associated with late presentation of BC.MethodsThis is a retrospective cohort study of patients who presented with BC between 2011 and 2020. Logistic regression was performed to examine the association between sociodemographic factors and advanced BC.ResultsThis cohort included 1,953 patients with median age of 52 years. 1,098 (56.2%) patients were diagnosed at early stages, while 855 (43.8%) patients were diagnosed at advanced stages. Univariate logistic regression analyses revealed that several sociodemographic and clinical factors were associated with advanced BC, including having negative family history of BC (OR= 0.1.27; 95% CI:1.05 – 1.54), having no job (OR= 1.28; 95% CI: 1.06 – 1.53), being married (OR=1.27; 95% CI:1.02 – 1.57), rural residence (OR=1.27; 95% CI:1.02 – 1.57), having more than three children (OR=1.42; 95% CI:1.15 – 1.75), higher KI-67% score (OR=1.01; 95% CI:1.00 - 1.01), having HER2-Enriched or TNBC subtypes (OR= 1.44; 95% CI:1.16 – 1.79), and having tumor grate II/III (OR=4.12; 95% CI:1.58 – 10.77 & OR= 1.44; 95% CI:1.16 – 1.79, respectively). In the multivariate logistic regression model, only KI-67% (aOR=1.01; 95% CI:1.00 - 1.02), having no job (aOR=1.44; 95% CI:1.10 – 1.90), and rural residence (aOR=1.88; 95% CI:1.03 – 3.42) were significantly associated with advanced BC.ConclusionThis study concluded that having no job and rural residence are highly associated with advanced BC. Raising the public awareness is the best strategy to encourage early detection of BC.