bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case Report: congenital single kidney in tuberous sclerosis complex (bourneville disease)
Authors: Bzeih Wafaa , Kbar Mohammad , Rihan Oussama 
Published: February 2024

Introduction:
Bournevile disease is a rare global condition that presents a diagnostic challenge due to its diverse multisystemic involvement.

Case Presentation:
This report presents the case of a 14-year-old male with a medical history of congenital single kidney, heart rate abnormalities, Bournevile disease with cognitive deficits, brain lesions, and dermatological features. The patient presented with sudden onset renal angiolipomatosis, and the diagnosis was based on specific CT findings. Despite having these complex medical conditions, the patient had never been admitted to the hospital since infancy, and treatment was limited to surveillance only.

Clinical Discussion:
Bourneville disease is a multisystemic disease that affects several organ systems within the human body and thus demands multidisciplinary approach in the treatment and followup options.

Conclusion:
This case report highlights Bournevile disease in a patient with a congenital single kidney, a rare finding that further complicates the disease. It emphasises the importance of recognizing and managing this condition to ensure appropriate care for affected individuals.
Evaluation of Automated Processing of Electronically Reported Serological Tests for Syphilis Using Current and Historical Syphilis Results Compared With Traditional Reactor Grid Processing in Florida
Authors: Matthias James , Khan Amir M. , Craze Kristin , Karki Saugat , Newman Daniel R. 
Published: February 2024

Background
Syphilis in Florida increased 49% from 2016 to 2020. Moreover, many serological tests for syphilis (STS) do not indicate current infection. Traditionally, syphilis surveillance systems used reactor grids, a method for prioritizing STS for investigation based on age, nontreponemal titer, and/or sex. In 2022, Florida's sexually transmitted disease surveillance system implemented an automated method for processing electronically reported STS (eSTS), expanding upon the reactor grid, using an individual's current STS (treponemal and nontreponemal), treatment history, and historical STS results aiming for more efficiently processing eSTS. We compared the new method of processing eSTS results against the reactor grid and determined potential value in time/cost savings of this change.

Methods
All eSTSs (n = 4144) from January 2, 2023 to January 8, 2023, were compared by how the logic-based method processed test results versus how the reactor grid processed test results. Each method was compared using measurements of accuracy (e.g., sensitivity/specificity). Time and cost savings in eSTS processing were estimated.

Results
Using the surveillance case definition as reference, the accuracy of the logic-based method for processing eSTS was nearly double (82.3% vs. 43.6%), had greater specificity (79.0% vs. 33.0%), and increased positive predictive value (47.5% vs. 22.0%) when compared with the reactor grid method. Sensitivity (99.5% vs. 98.6%) and negative predictive value (99.9% vs. 99.2%) remained similar. The logic-based method is estimated to save 7783 hours annually (~$185,000).

Conclusions
Processing eSTS based on current and historical STS results is significantly more accurate than using a reactor grid. Moreover, these improvements save time and resources that can be better allocated to other program prevention activities.
Impact of Severe Obesity on Major Perioperative Complications for Prolapse Surgery
Authors: Kisby Cassandra K. , Vermunt Jane , Maciejko Laura A. , Abd El Aziz Mohamed A. , Perry William , Occhino John A. 
Published: February 2024

Importance
Obesity adds complexity to the decision of surgical approach for pelvic organ prolapse; data regarding perioperative complications are needed.

Objective
The aim of the study was to evaluate associations of body mass index (BMI) and surgical approach (vaginal vs laparoscopic) on perioperative complications.

Study Design
Patients who underwent prolapse surgery were identified via the Current Procedural Terminology codes from the American College of Surgeons National Surgical Quality Improvement Program database 2007–2018. Thirty-day major complications were compared across BMI to identify an inflection point, to create a dichotomous BMI variable. Multivariable logistic regression was used to assess the association between BMI and complications. An interaction term was introduced to evaluate for effect modification by operative approach.

Results
A total of 26,940 patients were identified (25,933 BMI < 40, 1,007 BMI ≥ 40). The proportion of patients experiencing a major complication was higher in the BMI ≥ 40 group (2.0 vs 1.1%, P = 0.007). In multivariate analysis, the odds of a major complication was 1.8 times higher for women with a BMI ≥ 40 (95% confidence interval, 1.1–2.9, P = 0.04). There was a significant interaction between operative approach and BMI; therefore, further analyses were restricted to either vaginal or laparoscopic operative approaches. Among women who underwent vaginal prolapse repair, there was no difference in the odds of a major complication (adjusted odds ratio, 1.4; 0.8–2.4; P = 0.06). Among women who underwent laparoscopic repair, those with a BMI ≥ 40 were 6 times more likely to have a major complication (adjusted odds ratio, 6.0; 2.5–14.6; P < 0.001).

Conclusions
Body mass index ≥ 40 was associated with an increased odds of a 30-day major complication. This association was greatest in women who underwent a laparoscopic prolapse repair.
Extracorporeal Photopheresis Reduces Fibrotic and Inflammatory Transcriptomic Biological Marker of Chronic Antibody-mediated Kidney Rejection
Authors: Lionet Arnaud , Van Triempon Marine , Figeac Martin , Fages Victor , Gibier Jean-Baptiste , Provot François , Maanaoui Mehdi , Pottier Nicolas , Cauffiez Christelle , Glowacki François 
Published: February 2024

Background.
The benefit of extracorporeal photopheresis on the course of kidney transplant rejection is unknown. The aim of our study was to investigate the variations in transcriptomics on graft biopsies when extracorporeal photopheresis was used to treat chronic humoral rejection after kidney transplantation.

Methods.
We retrospectively analyzed the mRNA expression of 770 genes of interest in graft biopsies performed before and after treatment. Eight patients received an average of 23 extracorporeal photopheresis sessions over 4 mo between the 2 biopsies.

Results.
Transcriptomic analysis of the graft biopsies identified a significant (adjusted P < 0.05) increase in CAV1 mRNA in all patients and a significant decrease in CD19, IL21, PAX5, and SFTPA2 mRNAs in 7 of 8 patients.

Conclusions.
In patients treated with extracorporeal photopheresis for chronic humoral rejection after renal transplantation, omic analysis of repeated biopsies shows a reduction in fibrotic and inflammatory transcriptomic biologicals markers.
Assessment of Reversibility of Transverse Venous Sinus Stenosis in Patients With Papilledema
Authors: Handzic Armin , Tao Brendan K. , O'Cearbhaill Roisin M. , Nicholson Patrick J. , Margolin Edward A. , Micieli Jonathan A. 
Published: February 2024

Background:
Bilateral transverse venous sinus stenosis (TVSS) or stenosis of a dominant venous sinus has been found to be very sensitive radiological findings in patients with intracranial hypertension (IH), yet there is still an ongoing debate whether they constitute reversible or permanent phenomena. Thus, the purpose of this study was to investigate the reversibility of TVSS in patients with IH, including conservatively treated patients with signs of IH as defined by the presence of papilledema.

Methods:
This was a retrospective chart review of all patients diagnosed with IH between 2016 and 2022, assessed from 2 tertiary university-affiliated neuro-ophthalmology practices. Inclusion criteria were the presence of papilledema, as quantified by optical coherence tomography, and bilateral TVSS, which is considered typical of IH on neuroimaging. During follow-up, included patients must have had confirmation of papilledema resolution as well as subsequent neuroimaging after conservative treatment or cerebrospinal fluid flow diversion. Patients with dural sinus vein thrombosis or intrinsic stenosis from sinus trabeculations or significant arachnoid granulations were excluded from the study. Either CT venography or MRI/MR venography was reviewed by a fellowship-trained neuroradiologist, and the degree of stenosis was scored through the combined conduit score (CCS), as described by Farb et al. The primary outcome was to assess TVSS changes after resolution or improvement of papilledema.

Results:
From 435 patients, we identified a subset of 10 who satisfied all inclusion criteria. Our cohort comprised entirely women with a median age of 29.5 years and a median BMI of 32.5 kg/m2. Treatment consisted of acetazolamide in 7 patients, of which 1 had additional topiramate and 2 underwent cerebrospinal fluid flow diversion. Furthermore, 6 patients demonstrated significant weight loss during follow-up. For the primary outcome, 5 of 10 patients exhibited no appreciable TVSS change, and 5 patients demonstrated significant improvement in TVSS, of which 4 received conservative treatment only. Papilledema resolution or improvement was statistically significantly associated with increasing average CCS, TVSS diameter, and grade.

Conclusions:
We were able to demonstrate that TVSS can be both irreversible and reversible in patients with resolved papilledema. The finding of TVSS reversibility from conservative treatment alone is novel and has important implications to optimize patient care. Future studies should work to identify factors associated with irreversible TVSS for subsequent targeted intervention and prevention.
Refractory and Recurrent Idiopathic Granulomatous Mastitis Treatment: Adaptive, Randomized Clinical Trial
Authors: Shojaeian Fatemeh , Haghighat Shahpar , Abbasvandi Fereshteh , Houshdar Tehrani Alireza , Najar Najafi Niki , Zandi Ashkan , Olfatbakhsh Asiie , Sharifi Maryam , Hashemi Esmat , Nafissi Nahid , Najafi Safa 
Published: February 2024

BACKGROUND:Idiopathic granulomatous mastitis (IGM) is mostly described as an autoimmune disease with higher prevalence among Middle Eastern childbearing-age women. This study aimed to evaluate the best treatment of choice in patients with resistant or recurrent IGM.STUDY DESIGN:Patients with established recurrent or resistant IGM who were referred to the Breast Cancer Research Center from 2017 to 2020 were randomly assigned to either one of the following treatment groups: A (best supportive care), B (corticosteroids: prednisolone), and C (methotrexate and low-dose corticosteroids). This adaptive clinical trial evaluated radiological and clinical responses, as well as the potential side effects, on a regular basis in each group, with patients followed up for a minimum of 2 years.RESULTS:A total of 318 participants, with a mean age of 33.52 ± 6.77 years, were divided into groups A (10 patients), B (78 patients), and C (230 patients). In group A, no therapeutic response was observed; group B exhibited a mixed response, with 14.1% experiencing complete or partial responses, 7.7% maintaining stability, and 78.2% experiencing disease progression. Accordingly, groups A and B were terminated due to inadequate response. In group C, 94.3% achieved complete response, 3% showed partial remission, and 2.7% had no response to therapy. Among the entire patient cohort, 11.6% tested positive for antinuclear antibodies, 3.5% for angiotensin-converting enzyme, and 12.3% for erythema nodosum. Notably, hypothyroidism was a prevalent condition among the patients, affecting 7.2% of the cohort. The incidence of common side effects was consistent across all groups.CONCLUSIONS:The most effective treatment option for patients with recurrent or resistant IGM is a combination therapy involving steroids and disease-modifying antirheumatic drugs such as methotrexate.
Evaluating Outcomes of Nonaccidental Trauma in Military Children
Authors: Joskowitz Katie , Patwardhan Utsav M , Floan Gretchen M , Heflinger Megan , Cruz Sheena , David Maya , Jadhav Priyanka , Nienow Shalon , Thangarajah Hari , Ignacio Romeo C 
Published: February 2024

BACKGROUND:
Nonaccidental trauma (NAT), or child abuse, is a leading cause of childhood injury and death in the US. Studies demonstrate that military-affiliated individuals are at greater risk of mental health complication and family violence, including child maltreatment. There is limited information about the outcomes of military children who experience NAT. This study compares the outcomes between military-dependent and civilian children diagnosed with NAT.

STUDY DESIGN:
A single-institution, retrospective review of children admitted with confirmed NAT at a Level I trauma center was performed. Data were collected from the institutional trauma registry and the Child Abuse Team’s database. Military affiliation was identified using insurance status and parental or caregiver self-reported active-duty status. Demographic and clinical data including hospital length of stay (LOS), morbidity, specialty consult, and mortality were compared.

RESULTS:
Among 535 patients, 11.8% (n = 63) were military-affiliated. The median age of military-associated patients, 3 months (interquartile range [IQR] 1 to 7), was significantly younger than civilian patients, 7 months (IQR 3 to 18, p < 0.001). Military-affilif:ated patients had a longer LOS of 4 days (IQR 2 to 11) vs 2 days (IQR 1 to 7, p = 0.041), increased morbidity or complication (3 vs 2 counts, p = 0.002), and a higher mortality rate (10% vs 4%, p = 0.048). No significant difference was observed in the number of consults or injuries, trauma activation, or need for surgery.

CONCLUSIONS:
Military-affiliated children diagnosed with NAT experience more adverse outcomes than civilian patients. Increased LOS, morbidity or complication, and mortality suggest military-affiliated patients experience more life-threatening NAT at a younger age. Larger studies are required to further examine this population and better support at-risk families.
Dynamic medial parietal and hippocampal deactivations under DMT relate to sympathetic output and altered sense of time, space, and the self
Authors: Pasquini Lorenzo , Simon Alexander J. , Gallen Courtney L. , Kettner Hannes , Roseman Leor , Gazzaley Adam , Carhart-Harris Robin L. , Timmermann Christopher 
Published: February 2024

AbstractN,N-Dimethyltryptamine (DMT) is a serotonergic psychedelic, known to rapidly induce short-lasting alterations in conscious experience, characterized by a profound and immersive sense of physical transcendence alongside rich and vivid auditory distortions and visual imagery. Multimodal neuroimaging data paired with dynamic analysis techniques offer a valuable approach for identifying unique signatures of brain activity – and linked autonomic physiology – naturally unfolding during the altered state of consciousness induced by DMT. We leveraged simultaneous fMRI and EKG data acquired in 14 healthy volunteers prior to, during, and after intravenous administration of DMT, and, separately, placebo. fMRI data was preprocessed to derive individual dynamic activity matrices, reflecting the similarity of brain activity in time, and community detection algorithms were applied on these matrices to identify brain activity substates; EKG data was used to derive continuous heart rate. We identified a brain substate occurring immediately after DMT injection, characterized by hippocampal and medial parietal deactivations and increased superior temporal lobe activity under DMT. Deactivations in the hippocampus and medial parietal cortex correlated with alterations in the usual sense of time, space and self-referential processes, reflecting a deconstruction of essential features of ordinary consciousness. Superior lobe activations instead correlated with audio/visual hallucinations and experience of “entities”, reflecting the emergence of altered sensory experiences under DMT. Finally, increased heart rate under DMT correlated positively with hippocampus/medial parietal deactivation and the experience of “entities”, and negatively with altered self-referential processes. These results suggest a chain of influence linking sympathetic regulation to hippocampal and medial parietal deactivations under DMT, which combined, may contribute to positive mental health outcomes related to self-referential processing following psychedelic administration.
High-resolution single-particle imaging at 100-200 keV with the Gatan Alpine direct electron detector
Authors: Chan Lieza M. , Courteau Brandon J. , Maker Allison , Wu Mengyu , Basanta Benjamin , Mehmood Hevatib , Bulkley David , Joyce David , Lee Brian C. , Mick Stephen , Gulati Sahil , Lander Gabriel C. , Verba Kliment A. 
Published: February 2024

ABSTRACTDevelopments in direct electron detector technology have played a pivotal role in enabling high-resolution structural studies by cryo-EM at 200 and 300 keV. Yet, theory and recent experiments indicate advantages to imaging at 100 keV, energies for which the current detectors have not been optimized. In this study, we evaluated the Gatan Alpine detector, designed for operation at 100 and 200 keV. Compared to the Gatan K3, Alpine demonstrated a significant DQE improvement at these voltages, specifically a ~4-fold improvement at Nyquist at 100 keV. In single-particle cryo-EM experiments, Alpine datasets yielded better than 2 Å resolution reconstructions of apoferritin at 120 and 200 keV on a ThermoFisher Scientific (TFS) Glacios microscope. We also achieved a ~3.2 Å resolution reconstruction for a 115 kDa asymmetric protein complex, proving its effectiveness with complex biological samples. In-depth analysis revealed that Alpine reconstructions are comparable to K3 reconstructions at 200 keV, and remarkably, reconstruction from Alpine at 120 keV on a TFS Glacios surpassed all but the 300 keV data from a TFS Titan Krios with GIF/K3. Additionally, we show Alpine’s capability for high-resolution data acquisition and screening on lower-end systems by obtaining ~3 Å resolution reconstructions of apoferritin and aldolase at 100 keV and detailed 2D averages of a 55 kDa sample using a side-entry cryo holder. Overall, we show that Gatan Alpine performs well with the standard 200 keV imaging systems and may potentially capture the benefits of lower accelerating voltages, possibly bringing smaller sized particles within the scope of cryo-EM.
ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis
Authors: Guillet Stephanie , Lazarov Tomi , Jordan Natasha , Boisson Bertrand , Tello Maria , Craddock Barbara , Zhou Ting , Nishi Chihiro , Bareja Rohan , Yang Hairu , Rieux-Laucat Frederic , Lorenzo Rosa Irene Fregel , Dyall Sabrina D. , Isenberg David , D’Cruz David , Lachmann Nico , Elemento Olivier , Viale Agnes , Socci Nicholas D. , Abel Laurent , Nagata Shigekazu , Huse Morgan , Todd Miller W. , Casanova Jean-Laurent , Geissmann Frederic 
Published: February 2024

ABSTRACTSystemic Lupus Erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with systemic lupus erythematosus (SLE) we identified an association between SLE and compound heterozygous deleterious variants in the non-receptor tyrosine kinases (NRTKs) ACK1 and BRK. Experimental blockade of ACK1 or BRK increased circulating autoantibodiesin vivoin mice and exacerbated glomerular IgG deposits in an SLE mouse model. Mechanistically, non-receptor tyrosine kinases (NRTKs) regulate activation, migration, and proliferation of immune cells. We found that the patients’ ACK1 and BRK variants impair efferocytosis, the MERTK-mediated anti-inflammatory response to apoptotic cells, in human induced Pluripotent Stem Cell (hiPSC)-derived macrophages, which may contribute to SLE pathogenesis. Overall, our data suggest that ACK1 and BRK deficiencies are associated with human SLE and impair efferocytosis in macrophages.One sentence summaryLoss of function variants of human ACK1 and BRK kinase underlie systemic lupus erythematosus in young patients from multiplex families and disrupt the anti-inflammatory response of macrophages to apoptotic cells.
Emotional Content and Semantic Structure of Dialogues Are Associated With Interpersonal Neural Synchrony in the Prefrontal Cortex
Authors: Carollo Alessandro , Stella Massimo , Lim Mengyu , Bizzego Andrea , Esposito Gianluca 
Published: February 2024

AbstractA fundamental characteristic of social exchanges is the synchronization of individuals’ behaviors, physiological responses, and neural activity. However, the association between how individuals communicate in terms of emotional content and expressed associative knowledge and interpersonal synchrony has been scarcely investigated so far. This study addresses this research gap by bridging recent advances in cognitive neuroscience data, affective computing, and cognitive data science frameworks. Using functional near-infrared spectroscopy (fNIRS) hyperscanning, prefrontal neural data were collected during social interactions involving 84 participants (i.e., 42 dyads) aged 18-35 years. Wavelet transform coherence was used to assess interpersonal neural synchrony between participants. We used manual transcription of dialogues and automated methods to codify transcriptions as emotional levels and syntactic/semantic networks. Our quantitative findings reveal higher than random expectations levels of interpersonal neural synchrony in the superior frontal gyrus (q= .038) and the bilateral middle frontal gyri (q<.001,q<.001). Linear mixed models based on dialogues’ emotional content only significantly predicted interpersonal neural synchrony across the prefrontal cortex. Conversely, models relying on syntactic/semantic features were more effective at the local level, for predicting brain synchrony in the right middle frontal gyrusGenerally, models based on the emotional content of dialogues were not effective when limited to data from one region of interest at a time, whereas models based on syntactic/semantic features show the opposite trend, losing predictive power when incorporating data from all regions of interest. Moreover, we found an interplay between emotions and associative knowledge in predicting brain synchrony, providing quantitative support to the major role played by these linguistic components in social interactions and in prefrontal processes. Our study identifies a mind-brain duality in emotions and associative knowledge reflecting neural synchrony levels, opening new ways for investigating human interactions.