bluuebunny/crossref_metadata_2025 huggingface dataset:
The Emergency Braking Game: a game theoretic approach for maneuvering in a dense crowd of pedestrians
Authors: Szőts János , Gyenes Zoltán , Gincsainé Szádeczky-Kardoss Emese , Bölöni Ladislau , Harmati István
Published: February 2024

We introduce an algorithm that maneuvers a vehicle through an area with randomly moving pedestrians. In non-critical situations, our strategy is to avoid pedestrians by steering, whereas dangerously moving pedestrians are avoided by braking, possibly coming to a complete stop. The distinction between non-critical and dangerous situations, as well as proof of safety, is based on a continuous optimization problem that we define. In this abstract problem, called Emergency Braking Game, one pedestrian is actively trying to collide with a continuously decelerating car. We show how to determine the outcome of the game based on the initial states of the car and the pedestrian. Using this information, our algorithm can initiate deceleration in the real scenario in time to avoid collision. The method’s safety is proven theoretically, and its efficiency is shown in simulations with randomly moving pedestrians.
Assembled or unassembled? Different types of outfit coordination presentations in online fashion retailing
Authors: Qu Ying , Baek Eunsoo
Published: February 2024

In the realm of retailing, various methods of product presentation exert a significant influence on consumers' perceptions and behaviors. In the context of fashion retailing, one crucial aspect of presentation revolves around outfit coordination (OC), which can be displayed in either an assembled or unassembled manner. Assembled OC entails displaying fashion items collectively on a body, while unassembled OC involves presenting them individually on a flat background. Drawing from the literature on the Elaboration Likelihood Model of attention, this research explores the impact of assembled versus unassembled OC on consumers' imagery elaboration, attention, and product evaluations, employing three online experiments. In the first study (N = 126), we demonstrate that assembled OC, in contrast to unassembled OC, fosters greater imagery elaboration and elicits more positive product evaluations. Building upon these findings, the second study (N = 214) employs a serial mediation analysis to unveil the underlying mechanism involving shifted attention. The third study (N = 182) explores the moderating effect of fashion involvement, revealing that for consumers with a high level of fashion involvement, unassembled OC, rather than assembled OC, leads to higher levels of imagery elaboration and more favorable product evaluations. This research not only enriches the literature on online retailing and visual communication, but also provides actionable insights for industry practitioners on effectively presenting fashion products to online shoppers.
Ectopic pancreatic adenocarcinoma in Meckel’s diverticulum: a case report
Authors: Inokuchi Shoichi , Shirabe Kohjiro , Tsutsumi Satoshi , Takayama Hiroomi , Terashi Takahiro , Yasuda Kazuhiro , Ikebe Masahiko , Bandoh Toshio , Wada Junpei , Urabe Shogo , Utsunomiya Tohru
Published: February 2024

Background

Malignant neoplasms arising from Meckel’s diverticulum are rare and an adenocarcinoma in Meckel’s diverticulum originating from ectopic pancreatic tissue is even rarer. Herein, we report a patient with an ectopic pancreatic adenocarcinoma in Meckel’s diverticulum who was successfully treated with surgery and chemotherapy.

Case presentation

A woman in her sixties presented to another hospital with abdominal pain. Plain computed tomography suggested an abdominal tumor and she was referred to our hospital. Enhanced computed tomography revealed a 23-mm low-density tumor in the abdominal cavity. Surgery was performed with a tentative diagnosis of a mesenteric tumor, such as a gastrointestinal stromal tumor, schwannoma, or lymphoma. First, we inspected the peritoneal cavity with a laparoscope. This revealed numerous nodules in the small bowel mesentery, suggesting peritoneal dissemination. A 20-mm-diameter white tumor was found in the small intestine and diagnosed as a small intestinal cancer. The small intestine was partially resected laparoscopically through a small skin incision. The patient’s postoperative course was uneventful, and she was discharged on postoperative day 9. Pathological examination revealed well-differentiated adenocarcinoma in the small intestine. The tumor had developed from a sac-like portion protruding toward the serosal side and had a glandular structure lined with flattened atypical cells. Neither pancreatic acinar cells nor islets of Langerhans were evident, suggesting a Heinrich type 3 ectopic pancreas. The final diagnosis was an adenocarcinoma originating from an ectopic pancreas in Meckel’s diverticulum. After a smooth recovery, the patient commenced chemotherapy for pancreatic cancer.

Conclusions

We present a very rare case of ectopic pancreatic carcinoma in Meckel’s diverticulum.
Successful sutureless repair of multiple left ventricular free wall ruptures due to Takotsubo cardiomyopathy: a case report
Authors: Yasumura Hiroto , Tao Koji , Imada Ryo , Yamashita Yushi , Tateishi Naoki , Kinjo Tamahiro
Published: February 2024

Background

Takotsubo cardiomyopathy (TCM) is a temporary and reversible systolic abnormality of the left ventricular apical area resembling a myocardial infarction. Cardiac rupture due to TCM is a rare but fatal complication. Without cardiac surgery, 94% of patients with left ventricular free wall rupture (LVFWR) due to TCM die. Furthermore, successful surgical cases are rare. We report herein the successful treatment of multiple LVFWRs due to TCM using a sutureless repair.

Case presentation

An 80-year-old man quarreled with his daughter and had a sudden onset of chest pain. He was transferred to our hospital in shock. Electrocardiography showed ST elevation and contrast-enhanced computed tomography revealed a bloody pericardial effusion. Emergent coronary angiography showed no significant stenosis. Cardiac arrest ensued because of cardiac tamponade. Emergent surgery was undertaken and three oozing lacerations on the lateral and inferior walls were noted. A sutureless repair was performed using TachoSil® patches. We also applied Surgicel Nu-Knit® absorbable hemostat with Hydrofit® where TachoSil® failed to completely adhere because of hematoma formation and achieved complete hemostasis. We diagnosed the ruptures due to TCM according to the Mayo criteria. The patient was discharged on postoperative day 71.

Conclusions

A sutureless repair using TachoSil® patches and Surgicel® with Hydrofit® is a minimally invasive and effective method for the treatment of multiple LVFWRs due to TCM.
Effects of free trade on export efficiency of COMESA member-states
Authors: Masunda Stein , Mhonyera Gabriel
Published: February 2024

Regional integration in Africa is deepening, and the existing regional groupings are making frantic efforts to remove barriers to trade. One way in which trade among countries can be promoted is through the establishment of free trade areas with member-states. However, regulatory quality that supports international trade in most African countries is exceptionally low. This study investigates the effect of the Common Market for Eastern and Southern Africa (COMESA) free trade area (FTA) on the bilateral export efficiency of member-states over the period 1997–2021. The results obtained using a stochastic frontier specification of the gravity model and panel data of 16 exporting COMESA member-states show a positive effect of the COMESA free trade area on export efficiency. In addition, the study finds regulatory quality to have a positive impact on export efficiency. Controlling for regulatory quality, the results also show that the FTA stimulates export efficiency. Hence, non-FTA COMESA members ought to contemplate joining the FTA in order to expand their respective exports with other member-states to their maximum potential.
Optimization and scale up of production of the PSMA imaging agent [18F]AlF-P16-093 on a custom automated radiosynthesis platform
Authors: Alexoff David , Choi Seok Rye , Ploessl Karl , Kim Dohyun , Zhao Ruiyue , Zhu Lin , Kung Hank
Published: February 2024

Background

Recent advancements in positron emission tomograph (PET) using prostate specific membrane antigen (PSMA)-targeted radiopharmaceuticals have changed the standard of care for prostate cancer patients by providing more accurate information during staging of primary and recurrent disease. [68Ga]Ga-P16-093 is a new PSMA-PET radiopharmaceutical that demonstrated superior imaging performance in recent head-to-head studies with [68Ga]Ga-PSMA-11. To improve the availability of this new PSMA PET imaging agent, [18F]AlF-P16-093 was developed. The 18F-analog [18F]AlF-P16-093 has been synthesized manually at low activity levels using [18F]AlF2+ and validated in pre-clinical models. This work reports the optimization of the production of > 15 GBq of [18F]AlF-P16-093 using a custom automated synthesis platform.

Results

The sensitivity of the radiochemical yield of [18F]AlF-P16-093 to reaction parameters of time, temperature and reagent amounts was investigated using a custom automated system. The automated system is a low-cost, cassette-based system designed for 1-pot syntheses with flow-controlled solid phase extraction (SPE) workup and is based on the Raspberry Pi Zero 2 microcomputer/Python3 ecosystem. The optimized none-decay-corrected yield was 52 ± 4% (N = 3; 17.5 ± 2.2 GBq) with a molar activity of 109 ± 14 GBq/µmole and a radiochemical purity of 98.6 ± 0.6%. Run time was 30 min. A two-step sequence was used: SPE-purified [18F]F− was reacted with 80 nmoles of freeze-dried AlCl3·6H2O at 65 °C for 5 min followed by reaction with 160 nmoles of P16-093 ligand at 40 °C for 4 min in a 1:1 mixture of ethanol:0.5 M pH 4.5 NaOAc buffer. The mixture was purified by SPE (> 97% recovery). The final product formulation (5 mM pH 7 phosphate buffer with saline) exhibited a rate of decline in radiochemical purity of ~ 1.4%/h which was slowed to ~ 0.4%/h when stored at 4 °C.

Conclusion

The optimized method using a custom automated system enabled the efficient (> 50% none-decay-corrected yield) production of [18F]AlF-P16-093 with high radiochemical purity (> 95%). The method and automation system are simple and robust, facilitating further clinical studies with [18F]AlF-P16-093.
Patterns and management outcomes of intracranial extra-axial hematomas in low-resource setup: a 6-month prospective observational study at Jimma University Medical Center, Ethiopia
Authors: Bayleyegn Nebiyou Simegnew , Abafita Mohammed , Worku Addis Temie , Baye Minale Fekadie
Published: February 2024

Introduction

Intracranial hematoma is the collection of blood in various intracranial spaces. Knowledge of patterns, origins, causes and outcomes of ICH conditions is important for decision-making for urgent surgical interventions such as craniotomy and hematoma evacuations. No prior study was conducted in our setup. Hence, this study aimed to assess the patterns and management outcomes of intracranial hematomas in low-resource setting and tailored our management approach at Jimma University Medical center.

Methods

An institution-based prospective observational study was conducted at Jimma University Medical Center, Ethiopia, for six consecutive months from June to December 2020. Different data sources and interview methods were used and analyzed using SPSS version 24. A bivariate and multivariate logistic regression was conducted to determine the association between the variables.

Results

A total of 91 eligible patients were recruited during the study period, with a mean age of 34 years. The majority of patients were males [73 (80.2%)] and more common in reproductive age groups (62.6%), from rural areas (50.5%). About 93.4% of patients reported a history of trauma, and road traffic accidents & fighting account for 63.8% of the trauma cases. Sixty-five percent of patients arrive in the hospital within 24 h. Upon presentation, there were loss of consciousness (48.4%), convulsion (11%), aspiration (9.9%) and increased ICP (12%). The majority (49.5%) of the patients had a mild head injury. The focal neurologic deficits were hemiparesis (29.7%) and hemiplegia (5.5%). Acute epidural hematoma (68.1%) was a common finding, followed by sub-acute subdural hematoma. Of the total study participants, 11% had died. All the surviving patients were accessed at 30 days after discharge and re-assessed, 66 patients had good neurologic recovery (62 upper and 4 lower good recovery), 11 patients had moderate disability (7 lower and 4 upper-moderate disabilities), two patients had a severe disability, and two patients (among those with severe disability) had died.

Conclusion

Trauma was invariably the cause of intracranial hematoma, and patients with low GCS, papillary abnormalities, aspiration and increased ICP had an increased risk of dying from their illness. It is good to formulate policies to enhance injury prevention and bring about health-oriented behavioral change.
Predictive factors of aneuploidy in infertile patients undergoing IVF: a retrospective analysis in a private IVF practice
Authors: Salame Anastasia A. , Dahdouh Elias M. , Aljafari Rania , Samuel David A. , Koodathingal Bhavya P. , Bajpai Aparna , Kainoth Shabin , Fakih Michael
Published: February 2024

Background

PGT-A has become an important part of IVF treatments. Despite its increased use, there are contradicting results on its role in improving reproductive outcomes of ART cycles. Given that aneuploidy is a main limiting factor for IVF success, we aimed to study the predictive factors of aneuploidy in infertile patients undergoing IVF and hence highlight the patients who would benefit the most from genetic testing.

Results

A retrospective analysis of 1242 blastocysts biopsied in the setting of PGT-A cycles was performed. The euploid group included 703 embryos, while the aneuploid group had 539 embryos. The factors included in the analyses were the couple’s history as well as the embryo characteristics. The primary outcome was the rate of aneuploid embryos per patient’s history as well as per embryo characteristics. The aneuploidy rate (AR) in our cohort was 43.4%. The woman’s age was found to be a significant predictor (OR 1.045, 95% CI 1.008–1.084, p = 0.016). Biopsy on day 5 as well as degree of expansion 3 was also found to affect significantly (OR 0.724, 95% CI .541–.970, p = 0.03 and OR 2.645, 95% CI 1.252–5.585, p = 0.011). Lack of consanguinity decreased the AR by an OR 0.274 with 95% CI .137–.547, p < 0.001. The number of blastocysts available, trophectoderm quality, embryo grade, gonadotropins as well as trigger used were not found to be significant predictors (p = 0.495, 0.649, 0.264, 0.717 and 0.659 respectively).

Conclusion

Advanced female age, consanguinity, the day of embryo biopsy, and the degree of blastocyst expansion were all found to affect the incidence of AR. The age of the male partner, cause of infertility, and grade of embryo at biopsy were not found to correlate with aneuploidy.
Depression, anxiety, and hopelessness in a sample of Egyptian children diagnosed with cystic fibrosis
Authors: Zyada Fadia , Hamdy Hala , Basha N. El , Refaey Mohamed , Atia Fatma M. , Shaheen Somaya H.
Published: February 2024

Background

Even though current therapeutic approaches have significantly increased the longevity and standard of living for children suffering from cystic fibrosis (CF), the crucial psychological components of this illness have not received the same level of attention as other chronic illnesses. The aim of the research was to assess depression, anxiety, and hopelessness in cystic fibrosis-affected children and their relation to the duration of illness. In this study, we compared 40 healthy control children between the ages of 7 and 12 with 40 cystic fibrosis children who were matched for age and sex. All patients had detailed clinical and psychometric evaluations using the Children’s Depression Inventory (CDI), the Anxiety Scale for Children (ASC), and the Hopelessness Scale for Children (HSC).

Results

The CDI, ASC, and HSC revealed a significant difference between both groups. Positive correlations between depression, anxiety, and hopelessness and disease duration were found.

Conclusions

Patients with CF experienced significantly increased depression, anxiety, and hopelessness, and there is an association between these symptoms and the duration of the illness. We advise making psychiatric screening a standard part of evaluating and monitoring CF patients.
Bilateral breast metastasis from renal cell carcinoma, do not overlook this diagnosis: case report
Authors: AlKhateeb Marwa , Abdel-Hadi Mona , Darwish Azza , Abdel-Kerim Amr
Published: February 2024

Background

Renal cell carcinoma rarely metastasizes to the breast. Few cases are reported in the literature. We describe a unique case of bilateral breast metastasis from an RCC treated five years ago. To the best of our knowledge, this would be the first reported case in Egypt.

Case presentation

A 65-year-old Egyptian woman who underwent a nephrectomy for a renal cell carcinoma 5-years ago, showed up complaining of bloody nipple discharge from her right breast without any palpable lumps. Mammo-sonography showed multiple bilateral regular breast masses and a worrisome left axillary lymph node. Needle core biopsies were obtained and a final histopathological diagnosis of bilateral metastatic deposits from clear cell renal cell carcinoma (RCC) was made.

Conclusion

The differential diagnosis of bilateral breast masses should consider metastatic disease of the breast, particularly in patients with a previous history of malignancies.
Comparing pre-trained models for efficient leaf disease detection: a study on custom CNN
Authors: Alam Touhidul Seyam , Jowthi Chandni Barua , Pathak Abhijit
Published: February 2024

Leaf disease detection is a crucial task in modern agriculture, aiding in early diagnosis and prevention of crop infections. In this research paper, authors present a comprehensive study comparing nine widely used pre-trained models, namely DenseNet201, EfficientNetB3, EfficientNetB4, InceptionResNetV2, MobileNetV2, ResNet50, ResNet152, VGG16, and Xception, with our newly developed custom CNN (Convolutional Neural Network) for leaf disease detection. The objective is to determine if our custom CNN can match the performance of these established pre-trained models while maintaining superior efficiency. The authors trained and fine-tuned each pre-trained model and our custom CNN on a large dataset of labeled leaf images, covering various diseases and healthy states. Subsequently, the authors evaluated the models using standard metrics, including accuracy, precision, recall, and F1-score, to gauge their overall performance. Additionally, the authors analyzed computational efficiency regarding training time and memory consumption. Surprisingly, our results indicate that the custom CNN performs comparable to the pre-trained models, despite their sophisticated architectures and extensive pre-training on massive datasets. Moreover, our custom CNN demonstrates superior efficiency, outperforming the pre-trained models regarding training speed and memory requirements. These findings highlight the potential of custom CNN architectures for leaf disease detection tasks, offering a compelling alternative to the commonly used pre-trained models. The efficiency gains achieved by our custom CNN can be beneficial in resource-constrained environments, enabling faster inference and deployment of leaf disease detection systems. Overall, our research contributes to the advancement of agricultural technology by presenting a robust and efficient solution for the early detection of leaf diseases, thereby aiding in crop protection and yield enhancement.
Genetic diversity assessed in Ethiopian highland bamboo [
Oldeania alpina
(K. Schum) Stapleton] populations revealed by microsatellite markers
Authors: Adem Muhamed , Abdie Oumer , Feyissa Tileye , Beyene Dereje
Published: February 2024

Background

Ethiopian highland bamboo [
Oldeania alpina
(K. Schum) Stapleton] (Poaceae: Bambusoideae: Arundinarieae) is one of the economically and environmentally important plants in Ethiopia. Despite its wide presence in the country, nothing is known about genetic diversity and population structure of the species.

Methods

The study relied on 150 DNA samples representing 15
O.alpina
populations collected across major
O.alpina
harboring forests of Ethiopia. Following total genomic DNA isolation SSR primer screening was conducted using PCR, gel electrophoreses, gel doc imaging, allele scoring, and statistical analysis. Accordingly nine SSR primers from Chinese 
Phyllostachys edulis
and seven from Ethiopian
Oxytenanthera abyssinica
were found informative and used to investigate the extent of genetic diversity and structure of
O.alpina
populations.

Results

The study revealed the presence of moderate genetic diversity (Ho = 0.262; I = 0.639) within populations and very low genetic differentiation among populations (Fst = 0.019). Cluster (UPGMA), PCoA, and STRUCTURE analysis did not group the populations into clearly defined genetically distinct clusters according to their geographic origins, more likely due to the reproductive biology of the species since vegetative propagation is the main means of reproduction associated with 50–100 years of flowering and low viability of seeds.

Conclusions

Despite limitations connected with employing only 15 SSR markers, the study suggested the presence of moderate genetic diversity within populations and highly mixed population structure resulting in very low genetic differentiation among
O. alpina
populations. This information could serve as a basis for designing suitable conservation strategies and conducting further research using more SSRs and other sequences-based informative markers.
Fast-track anesthesia and outcomes in hepatopancreatic cancer surgery: a retrospective analysis
Authors: Mercadante Sebastiano , David Fabrizio , Mandalà Lucio , Villari Patrizia , Mezzatesta Pietro , Casuccio Alessandra
Published: February 2024

Aim

To assess the feasibility of a fast-track anesthesia protocol for hepatopancreatobiliary cancer surgery.

Methods

Retrospective analysis of consecutive sample of patients who underwent hepatopancreatic surgery for cancer for a period of 12 months in a high volume cancer center. Blended anesthesia was performed for most patients who were then observed in a recovery room area until achieving a safety score.

Results

Data of 163 patients were examined. Fifty-six and 107 patients underwent surgery for pancreatic cancer and liver surgery for primary tumor or metastases, respectively. Most patients were ASA 3. The mean durations of anesthesia and surgery were 322 min (SD 320) and 296 min (SD 133), respectively. Extubation was performed in the operating room in 125 patients. Post-operatory invasive ventilation was maintained in the recovery room in fifteen patients for a mean duration of 72.7 min (SD148.2). Only one patient was admitted to intensive care for 15 h. NIV was performed in three patients for a mean duration of 73.3 min (SD 15.3). The mean recovery room staying was 79 min (SD 80). The mean hospital postoperative stay was a mean of 8.1 days (SD 5.7). No complications were found in 144 patients. Globally, mortality rate was 3%.

Conclusion

A program of fast-track anesthesia with a short stay in recovery room allowed to achieve a good outcome, limiting the costs of intensive care admission.
A depth-variant seismic wavelet extraction method for basis pursuit inversion with an impedance trend constraint
Authors: Cai Ruiqian , Sun Chengyu , Yao Zhen’an , Li Shizhong
Published: February 2024

The seismic images produced by prestack depth migration indicate more accurate subsurface structures than time images, resulting in a growing need for depth-domain inversion. However, due to the strong nonstationarity exhibited by depth-domain seismic data, time-domain inversion methods based on the convolutional model cannot be directly applied in the depth domain. To address this issue, we develop a method for extracting a depth-variant seismic wavelet, which is then combined with a nonstationary convolutional model to enable direct inversion of the depth-domain acoustic impedance (AI). First, we extend the Morlet wavelet to the depth domain and develop an orthogonal matching pursuit spectral decomposition method using the depth-domain Morlet wavelet. We then investigate the waveforms and wavenumber spectra similarities between the depth-domain Morlet wavelet and depth-domain Ricker wavelet and extract depth-variant Ricker wavelets from the depth-wavenumber spectrum. We add a depth-domain impedance trend constraint to the conventional basis pursuit inversion to enhance the lateral continuity of the inversion results. Then, we attain direct inversion of the depth-domain AI. Tests of synthetic and field data demonstrate that our method achieves high-accuracy inversion results while maintaining high computational efficiency, highlighting our approach’s effectiveness and strong reservoir characterization potential.
Use of resistivity and density borehole image logs to identify and distribute facies in the Pikka unit — A case study from the Nanushuk Formation, North Slope, Alaska
Authors: Perona Ricardo , Armitage Dominic , Bonelli James , Capuzzo Nicola , Tingey Brady
Published: February 2024

Over the past few decades, the North Slope of Alaska has yielded several major hydrocarbon discoveries in the deltaic topsets of the Brookian Nanushuk Formation. Together, the Nanushuk topsets and genetically related foreset and bottomset beds of the Torok Formation comprise part of a giant clinothem system that prograded across the Colville Foreland Basin during the lower Cretaceous (the Aptian through the Cenomanian). The Nanushuk Topset Play contains stratigraphically trapped hydrocarbons within multiple fairways trending roughly north to south along the basin’s extent. Inside the Pikka Unit, the Nanushuk Formation represents a shelf-edge delta and attached shoreface system, defined primarily from sedimentological interpretations of conventional cores integrated with 3D seismic reflection data and well-log motifs. In this study, we build a structural and stratigraphic framework for the Nanushuk reservoir across the Pikka Unit through integrated observations of the borehole image logs, seismic data, and core. In the described workflow, the boundaries delimiting dip zones interpreted in the wells are correlated to higher order stratigraphic cycles within the Nanushuk clinothem zone. These boundaries are observed in seismic profiles and provide the basis of the structural framework. In addition, core facies interpretations are calibrated to CT-scan data to establish each facies character and vertical distribution within the wells. In the absence of core data, core-calibrated borehole images are instrumental in guiding sedimentological and structural interpretations. This extrapolation is dependent on the image log quality and resolution. The calibrated facies interpretations are applied to wells without core data and guided by seismic amplitude interpretation to extrapolate reservoir presence and distribution across the area.
Racial/Ethnic Disparities in Pathologic Complete Response and Overall Survival in Patients With Triple-Negative Breast Cancer Treated With Neoadjuvant Chemotherapy
Authors: Woriax Hannah E. , Thomas Samantha M. , Plichta Jennifer K. , Rosenberger Laura H. , Botty van den Bruele Astrid , Chiba Akiko , Hwang E. Shelley , DiNome Maggie L.
Published: February 2024

PURPOSE

Black women have higher rates of death from triple-negative breast cancer (TNBC) than White women. We hypothesized that pathologic complete response (pCR) to neoadjuvant chemotherapy (NAC) and overall survival (OS) may vary by race/ethnicity in patients with TNBC.

METHODS

We identified women 18 years and older with stage I-III TNBC who received NAC followed by surgery from the National Cancer Database (2010-2019). We excluded patients without race/ethnicity or pathology data. Primary outcomes were pCR rates and OS on the basis of race/ethnicity.

RESULTS

Forty thousand eight hundred ninety women with TNBC met inclusion criteria (median age [IQR], 53 [44-61] years): 26,150 Non-Hispanic White (64%, NHW), 9,672 Non-Hispanic Black (23.7%, NHB), 3,267 Hispanic (8%), 1,368 Non-Hispanic Asian (3.3%, NHA), and 433 Non-Hispanic Other (1.1%, NHO) patients. Overall, 29.8% demonstrated pCR (NHW: 30.5%, NHB: 27%, Hispanic: 32.6%, NHA: 28.8%, NHO: 29.8%). Unadjusted OS was significantly higher for those with pCR compared with those with residual disease (5-year OS, 0.917 [95% CI, 0.911 to 0.923] v 0.667 [95% CI, 0.661 to 0.673], log-rank P < .001), and this association persisted after adjustment for demographic and tumor factors. The effect of achieving pCR on OS did not differ by race/ethnicity (interaction P = .10). However, NHB patients were less likely (odds ratio [OR], 0.89 [95% CI, 0.83 to 0.95], P = .001) and Hispanic patients were more likely (OR, 1.19 [95% CI, 1.08 to 1.31], P = .001) to achieve pCR than NHW patients. After adjustment for patient and disease factors, including achievement of pCR, Hispanic (hazard ratio [HR], 0.76 [95% CI, 0.69 to 0.85], P < .001) and NHA (HR, 0.64 [95% CI, 0.55 to 0.75], P < .001) race/ethnicity remained associated with OS.

CONCLUSION

Odds of achieving pCR and OS in patients with TNBC appear to be associated with race/ethnicity. Additional research is necessary to understand how race/ethnicity is associated with rates of pCR and OS, whether related to socioeconomic factors or biologic variables, or both.
Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors
Authors: Paller Channing J. , Tukachinsky Hanna , Maertens Alexandra , Decker Brennan , Sampson Julian R. , Cheadle Jeremy P. , Antonarakis Emmanuel S.
Published: February 2024

PURPOSE

Biallelic germline pathogenic variants of the base excision repair (BER) pathway gene MUTYH predispose to colorectal cancer (CRC) and other cancers. The possible association of heterozygous variants with broader cancer susceptibility remains uncertain. This study investigated the prevalence and consequences of pathogenic MUTYH variants and MUTYH loss of heterozygosity (LOH) in a large pan-cancer analysis.

MATERIALS AND METHODS

Data from 354,366 solid tumor biopsies that were sequenced as part of routine clinical care were analyzed using a validated algorithm to distinguish germline from somatic MUTYH variants.

RESULTS

Biallelic germline pathogenic MUTYH variants were identified in 119 tissue biopsies. Most were CRCs and showed increased tumor mutational burden (TMB) and a mutational signature consistent with defective BER (COSMIC Signature SBS18). Germline heterozygous pathogenic variants were identified in 5,991 biopsies and their prevalence was modestly elevated in some cancer types. About 12% of these cancers (738 samples: including adrenal gland cancers, pancreatic islet cell tumors, nonglioma CNS tumors, GI stromal tumors, and thyroid cancers) showed somatic LOH for MUTYH, higher rates of chromosome 1p loss (where MUTYH is located), elevated genomic LOH, and higher COSMIC SBS18 signature scores, consistent with BER deficiency.

CONCLUSION

This analysis of MUTYH alterations in a large set of solid cancers suggests that in addition to the established role of biallelic pathogenic MUTYH variants in cancer predisposition, a broader range of cancers may possibly arise in MUTYH heterozygotes via a mechanism involving somatic LOH at the MUTYH locus and defective BER. However, the effect is modest and requires confirmation in additional studies before being clinically actionable.
Association of RNF43 Genetic Alterations With BRAFV600E and MSIhigh in Colorectal Cancer
Authors: Vogel Arndt , Murugesan Karthikeyan , Kendre Gajanan , Quintanilha Julia C.F. , Ross Jeffrey S. , Brummer Tilman , Saborowski Anna
Published: February 2024

PURPOSE

Recent studies have provided evidence for a predictive value of RNF43 genetic alterations (GAs) as biomarkers for targeted therapies in microsatellite-stable (MSS) colorectal cancer (CRC). These data have the potential to prioritize treatment strategies in patients with BRAFV600E-mutant CRC and help to identify a subgroup that is more likely to derive benefit versus those patients for whom alternative treatment approaches are needed. We were therefore interested in defining the precise frequency of BRAF V600E and RNF43 GAs and their respective overlap in a large cohort of patients with CRC.

METHODS

To address this question, we performed a retrospective analysis that included 52,969 patients diagnosed with CRC from the FoundationCORE database.

RESULTS

We observed a striking association of RNF43 GAs with MSI and tumor mutational burden status and BRAFV600E mutations. Overall, 23% of MSS patients with confirmed BRAFV600E mutation harbor an RNF43 GA—which accounts for 1.1% of all patients with CRC and for 15.7% of all CRC BRAFV600E cases.

CONCLUSION

Ongoing phase III clinical trials, such as BREAKWATER, should aim to incorporate broader genetic profiling to further validate the superior sensitivity of patients with RNF43-mutant, MSS BRAF V600E CRC to anti–EGFR-/BRAFi-based therapies.
Doege-Potter Syndrome: A Solitary Fibrous Tumor Causing Non-Islet Cell Tumor Hypoglycemia
Authors: Sheikh Khalid , Mody Avni , Haynes Alex B , Kumar Pratima
Published: February 2024

Doege-Potter syndrome occurs when incompletely processed insulin-like growth factor 2 (IGF-2), also known as big IGF-2, is produced by a solitary fibrous tumor (SFT) and results in non-islet cell tumor hypoglycemia (NICTH). We discuss here the case of a 66-year-old male who presented with a 2-week history of increasing confusion and a serum glucose of 34 mg/dL. The patient's symptoms immediately improved with dextrose. The patient did not use insulin, serum sulfonylurea screen was negative, and testing for adrenal insufficiency was unremarkable. Outpatient laboratory evaluation revealed a serum glucose of 48 mg/dL along with low insulin, C-peptide, and proinsulin levels. Further work-up showed an IGF-2 to IGF-1 ratio of 38:1. A ratio greater than 10:1 is diagnostic of NICTH. Imaging demonstrated a 21-cm mass in the lower abdomen and pelvis. The patient underwent surgical resection. The hypoglycemia resolved immediately postoperatively. Surgical pathology revealed a malignant SFT. In NICTH, big IGF-2 forms a complex that is biologically active and saturates the insulin and IGF receptors, resulting in refractory hypoglycemia. Although glucocorticoids can mitigate hypoglycemia, complete surgical resection is the only definitive treatment of NICTH. This case highlights the importance of maintaining a broad differential for seemingly simple hypoglycemia.
Nonclassic Congenital Adrenal Hyperplasia Metabolic Resolution Post Roux-en-Y Gastric Bypass and Associated Weight Loss
Authors: Romo Karina G , Shu Sharon W , Iqbal Qasim Z , Uwaifo Gabriel I
Published: February 2024

Nonclassic congenital adrenal hyperplasia (NCCAH) is characterized by mild cortisol deficiency, excess androgens and adrenocorticotropin (ACTH) production, and often with various features of dysmetabolic syndrome. Elective bariatric surgery is one of the most effective long-term management strategies for severe obesity. Our case presents a 34-year-old woman with symptomatic NCCAH and class III obesity who status post Roux-en-Y gastric bypass (RYGB) had significant weight loss with metabolic resolution of NCCAH, and no longer required glucocorticoid (GC) therapy. At 11 months post operation and off GC therapy, she had a weight deficit of approximately 160 pounds (72.57 kg) with continued metabolic resolution of NCCAH markers including ACTH, 17-hydroxyprogesterone, and androstenedione. Presently, GC therapy remains one of the few available treatments for symptomatic NCCAH; however, long-term GC therapy has the potential for various complications and side effects. Our case presents elective bariatric surgery as a potential and unique treatment option for patients with NCCAH with associated class III obesity. The exact pathophysiologic basis for this effect and its potential role in long-term management of appropriate NCCAH patients requires further study.
Severe Osteoporosis With Pathogenic LRP5 Variant
Authors: Stringer Felicity , Sims Natalie A , Sachithanandan Nirupa , Aleksova Jasna
Published: February 2024

A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema. Metabolic bone disorder clinical exome screening (limited panel of metabolic bone disorders and gastrointestinal disorders) was undertaken and revealed a class 4 likely pathogenic variant in the LRP5 gene known to cause osteoporosis. Optimal treatment for patients with this variant is not well defined. A literature review of the condition and potential treatment options is discussed.
Comparative evaulation of condylar guidance obtained by digital panoramic radiographic images with that of obtained during jaw relation and try-in using two different interocclusal record material in completely edentulous patients: an in vivo study
Authors: Doshi Khushbu , Sathe Seema
Published: February 2024

Background In completely edentulous patients, maintaining the patient's temporomandibular joint (TMJ) health and intraoral components is very important, which can be achieved by an accurate interocclusal record, which can we taken by various materials and also at various stages. Simulation of the temporomandibular joint anatomy and mandibular movements is possible on a semi-adjustable articulator, which is widely used in prosthodontics. Transferring the record on articulator is a critical step in the fabrication of complete dentures so it should be done precisely to reduce chair side time and also to avoid complications for patients. This study examines which material is more accurate and records which stage gives more precision, by comparing the Condylar guidance on radiographs. This is because it is a fairly consistent bony landmark and can be used for correlating with the clinical methods in terms of verification. The objective is to determine the inter occlusal records created during the Jaw Relation stage and Try-in using reinforced wax and Polyvinyl siloxane and compare these values to the condylar guidance obtained by oethopantomogram (OPG). Methods Recording the Condylar Guidance value on OPG by tracing the Glenoid fossa, Articular eminence and the Frankfurt Horizontal Plane. Followed by conventional steps in making complete dentures, at jaw relation and try-in stage. We will record values of condylar guidance with the two different Interocclusal record materials. Expected result It will help the clinicians to gain knowledge about obtaining precise condylar inclination angle by using suitable interocclusal record materials. Conclusions This study will help us to obtain condylar inclination which inturn helps the patients satisfaction as it preserves the intraoral components and health of TMJ.
PKD1 gene mutation and ultrasonographic characterization in cats with renal cysts
Authors: Jaturanratsamee Kotchapol , Jiwaganont Palin , Sukumolanan Pratch , Petchdee Soontaree
Published: February 2024

Background Polycystic kidney disease (PKD) has a complex phenotype partly explained by genetic variants related to this disease. Ultrasonography is a promising approach for defining clinical signs. This study aimed to assess kidney characteristics in cats with Polycystin-1 (PKD1) gene mutations and wild-type cats. Kidney characteristics were identified by ultrasonography. Methods A total of 108 cats of variable breeds aged an average of 37.01±3.50 months were included. Blood examination and biochemical tests were evaluated. For cystic formation, renal ultrasound was performed. The PKD1 gene mutation was identified via polymerase chain reaction (PCR) and DNA sequencing. Matrix correlation and effectiveness of ultrasound for PKD1 mutation detection were determined. Results The results showed that 19.44% of cats had PKD1 mutations, a high prevalence in Persian and Persian-related breed cats. Our results demonstrated the characteristics of kidneys in wild-type cats and cats with gene mutations. Based on ultrasonography results, there was an association between cats with gene mutations and cyst formation. The findings indicated that ultrasound did not detect cysts in cats aged 4-36 months, supporting the evidence that PKD1 gene mutations may not be present. This study found high sensitivity and renal specificity ultrasound for PKD1 heterozygous mutation. Moreover, cystic formation via renal ultrasound showed an increased risk for PKD1 mutation 2,623 times compared to normal kidneys. Conclusions Ultrasonographic examination, coupled with genetic investigations, may help to clarify the phenotypic variability of PKD1. The phenotypic profile of PKD1 will guide therapeutic outcomes and reduce the prevalence of PKD morbidity and mortality in cats.
A cross sectional study on serum homocysteine levels in women with unexplained infertility at rural hospital setup and its correlation with ovulation
Authors: Shukla Swasti , Shrivastava Deepti
Published: February 2024

This cross-sectional study aims to investigate the serum homocysteine levels in women diagnosed with unexplained infertility at a rural hospital setup and its correlation with ovulation patterns. Unexplained infertility is a challenging clinical entity, with a limited understanding of its underlying mechanisms in resource-constrained healthcare settings. The study will include women between 21 and 45 years of age, diagnosed with unexplained infertility, who have not received any prior fertility treatments. Data will be collected through blood samples to measure serum homocysteine levels, and ovulation assessments using hormonal analysis and ultrasound monitoring of the menstrual cycle. Descriptive statistics will summarize participants’ characteristics, while comparison tests will be employed to assess the association between serum homocysteine levels and unexplained infertility. Correlation analysis will explore the relationship between serum homocysteine levels and ovulation parameters. Furthermore, multiple regression analysis will identify independent associations between serum homocysteine levels and ovulation, controlling for potential confounding variables. This study aims to provide valuable insights into the role of serum homocysteine in unexplained infertility and its potential impact on ovulation patterns in women in a rural healthcare setup. The findings may contribute to understanding the pathophysiology of unexplained infertilities and pave the way for targeted therapeutic interventions. Ethical considerations will ensure participant privacy, and all data will be managed with the utmost confidentiality. The study’s results will be reported transparently, adhering to ethical guidelines, to offer evidence-based guidance for managing unexplained infertility in rural healthcare settings.
Case Report: Granulocytic Sarcoma of the Parotid in Chronic Myeloid Leukemia: A Case Report and Literature review
Authors: Chatterjee Priya , Hiwale Kishor , Vagha Sunita
Published: February 2024

Granulocytic sarcomas are infrequent, extramedullary malignant occurrences, generally seen with or secondary to acute myeloid leukemia (AML). Their association with chronic myeloid leukemia (CML) is rare and their appearance in parotid gland is sparsely reported in the literature, as per our literature search. In this report, we present an unusual and rare case of imatinib resistant BCR-ABL1 positive secondary granulocytic sarcoma to CML in chronic phase. The rarity of this clinical presentation presents a diagnostic dilemma, which required the pathologist and the clinician to combine a strong clinical suspicion with cytopathological features to diagnose this case, in order to ensure timely therapeutic modifications (shift from imatinib to second-generation tyrosine kinase inhibitor), considering the improvements in prognosis of imatinib resistant granulocytic sarcomas.
Impact of hemB mutations on 5-aminolevulinic acid production in Escherichia coli
Authors: Ninomiya Koki , Yoneda Kohei , Maeda Yoshiaki , Iwata Yasushi , Suzuki Iwane
Published: February 2024

Background Microbial production of 5-aminolevulinic acid (ALA) attracts attention due to a wide range of biotechnological and medical applications of ALA, including cancer treatment and diagnosis. Various genetic engineering approaches have been employed to improve ALA production in bacterial hosts such as Escherichia coli possessing the C5 pathway. Glutamyl-tRNA reductase (GluTR) encoded by hemA, glutamate-1-semialdehyde aminotransferase (GSA-AT) encoded by hemL, and ALA dehydratase (ALAD) encoded by hemB play important roles in ALA metabolism including the C5 pathway. Attenuation of the intercellular ALAD activity, which condensates 2 molecules of ALA to synthesize porphobilinogen (PBG), has been employed by various measures. However, a mutation approach by substituting catalytically important residues in ALAD encoded by hemB has never been attempted. The aim of this study is to assess the impact of hemB mutations on the ALA production in E. coli. Methods In this study, the authors mutated the amino acid residues potentially related to the enzymatic activity of E. coli ALAD by referring to a mutation experiment of human ALAD. The authors created five types of mutated hemB genes, introduced these genes to the hemB-deleted mutant strain of E. coli, and assessed the impact of the ALAD mutations on ALA production. In addition, hemA, hemL, and rhtA encoding an ALA exporter were introduced to the E. coli possessing a mutated hemB. Results The authors revealed that the mutations of ALAD employed in this study did not significantly enhance ALA production. Overexpression of hemA, hemL, and rhtA substantially increased ALA production in any E. coli strain possessing mutated hemB, while a difference in ALA production of the strain could be rather attributed to its growth behaviour than ALAD inactivation. Conclusions This study provides an important piece of information to design the bioprocess of ALA production using E. coli engineered through the C5 pathway.