Medical Specialties Commons^™

The Tumor-Immune Ecosystem In Shaping Metastasis, Yang Gao, Jeffrey M Rosen, Xiang H-F Zhang

Faculty, Staff and Students Publications

A better understanding of the mechanisms regulating cancer metastasis is critical to develop new therapies and decrease mortality. Emerging evidence suggests that the interactions between tumor cells and the host immune system play important roles in establishing metastasis. Tumor cells are able to recruit immune cells, which in turn promotes tumor cell invasion, intravasation, survival in circulation, extravasation, and colonization in different organs. The tumor-host immunological interactions also generate a premetastatic niche in distant organs which facilitates metastasis. In this review, we summarize the recent findings on how tumor cells and immune cells regulate each other to coevolve and promote …

Phase Separation In Biology And Disease; Current Perspectives And Open Questions, Steven Boeynaems, Shasha Chong, Jörg Gsponer, Liam Holt, Dragomir Milovanovic, Diana M Mitrea, Oliver Mueller-Cajar, Bede Portz, John F Reilly, Christopher D Reinkemeier, Benjamin R Sabari, Serena Sanulli, James Shorter, Emily Sontag, Lucia Strader, Jeanne Stachowiak, Stephanie C Weber, Michael White, Huaiying Zhang, Markus Zweckstetter, Shana Elbaum-Garfinkle, Richard Kriwacki

Faculty, Staff and Students Publications

In the past almost 15 years, we witnessed the birth of a new scientific field focused on the existence, formation, biological functions, and disease associations of membraneless bodies in cells, now referred to as biomolecular condensates. Pioneering studies from several laboratories [reviewed in [1–3]] supported a model wherein biomolecular condensates associated with diverse biological processes form through the process of phase separation. These and other findings that followed have revolutionized our understanding of how biomolecules are organized in space and time within cells to perform myriad biological functions, including cell fate determination, signal transduction, endocytosis, regulation …

Electrical Stimulation To Regain Lower Extremity Muscle Perfusion And Endurance In Patients With Post-Acute Sequelae Of Sars Cov-2: A Randomized Controlled Trial, Alejandro Zulbaran-Rojas, Myeounggon Lee, Rasha O Bara, Areli Flores-Camargo, Gil Spitz, M G Finco, Amir Behzad Bagheri, Dipaben Modi, Fidaa Shaib, Bijan Najafi

Faculty, Staff and Students Publications

Muscle deconditioning and impaired vascular function in the lower extremities (LE) are among the long‐term symptoms experienced by COVID‐19 patients with a history of severe illness. These symptoms are part of the post‐acute sequelae of Sars‐CoV‐2 (PASC) and currently lack evidence‐based treatment. To investigate the efficacy of lower extremity electrical stimulation (E‐Stim) in addressing PASC‐related muscle deconditioning, we conducted a double‐blinded randomized controlled trial. Eighteen (n = 18) patients with LE muscle deconditioning were randomly assigned to either the intervention (IG) or the control (CG) group, resulting in 36 LE being assessed. Both groups received daily 1 h E‐Stim …

Long-Chain Polyunsaturated Lipids Associated With Responsiveness To Anti-Pd-1 Therapy Are Colocalized With Immune Infiltrates In The Tumor Microenvironment, Mary E King, Robert Yuan, Jeremy Chen, Komal Pradhan, Isabel Sariol, Shirley Li, Ashish Chakraborty, Oscar Ekpenyong, Jennifer H Yearley, Janica C Wong, Luis Zúñiga, Daniela Tomazela, Maribel Beaumont, Jin-Hwan Han, Livia S Eberlin

Faculty, Staff and Students Publications

The programmed cell death protein-1 (PD-1) is highly expressed on the surface of antigen-specific exhausted T cells and, upon interaction with its ligand PD-L1, can result in inhibition of the immune response. Anti-PD-1 treatment has been shown to extend survival and result in durable responses in several cancers, yet only a subset of patients benefit from this therapy. Despite the implication of metabolic alteration following cancer immunotherapy, mechanistic associations between antitumor responses and metabolic changes remain unclear. Here, we used desorption electrospray ionization mass spectrometry imaging to examine the lipid profiles of tumor tissue from three syngeneic murine models with …

Identification And Management Of Atherosclerotic Cardiovascular Disease Risk In South Asian Populations In The Us, Anandita Agarwala, Priyanka Satish, Mahmoud Al Rifai, Anurag Mehta, Miguel Cainzos-Achirica, Nilay S Shah, Alka M Kanaya, Garima V Sharma, Dave L Dixon, Roger S Blumenthal, Pradeep Natarajan, Khurram Nasir, Salim S Virani, Jaideep Patel

Faculty, Staff and Students Publications

South Asians (SAs, individuals with ancestry from Bangladesh, Bhutan, India, Maldives, Nepal, Pakistan, and Sri Lanka) are among the fastest growing ethnic subgroups in the United States. SAs typically experience a high prevalence of diabetes, abdominal obesity, and hypertension, among other cardiovascular disease risk factors, which are often under recognized and undermanaged. The excess coronary heart disease risk in this growing population must be critically assessed and managed with culturally appropriate preventive services. Accordingly, this scientific document prepared by a multidisciplinary group of clinicians and investigators in cardiology, internal medicine, pharmacy, and SA-centric researchers describes key characteristics of traditional and …

Imaging Subclinical Coronary Atherosclerosis To Guide Lipid Management, Are We There Yet?, Pamela Piña, Daniel Lorenzatti, Rita Paula, Jonathan Daich, Aldo L Schenone, Carlos Gongora, Mario J Garcia, Michael J Blaha, Matthew J Budoff, Daniel S Berman, Salim S Virani, Leandro Slipczuk

Faculty, Staff and Students Publications

Atherosclerotic cardiovascular disease risk (ASCVD) is an ongoing epidemic, and lipid abnormalities are its primordial cause. Most individuals suffering a first ASCVD event are previously asymptomatic and often do not receive preventative therapies. The cornerstone of primary prevention has been the identification of individuals at risk through risk calculators based on clinical and laboratory traditional risk factors plus risk enhancers. However, it is well accepted that a clinical risk calculator misclassifies a significant proportion of individuals leading to the prescription of a lipid-lowering medication with very little yield or a missed opportunity for lipid-lowering agents with a potentially preventable event. …

Ferroptosis In Life: To Be Or Not To Be, Ling Xu, Yu'e Liu, Xi Chen, Hua Zhong, Yi Wang

Faculty, Staff and Students Publications

Ferroptosis is a novel type of programmed cell death, characterized by a dysregulated iron metabolism and accumulation of lipid peroxides. It features the alteration of mitochondria and aberrant accumulation of excessive iron as well as loss of the cysteine-glutathione-GPX4 axis. Eventually, the accumulated lipid peroxides result in lethal damage to the cells. Ferroptosis is induced by the overloading of iron and the accumulation of ROS and can be inhibited by the activation of the GPX4 pathway, FS1-CoQ10 pathway, GCH1-BH4 pathway, and the DHODH pathway, it is also regulated by the oncogenes and tumor suppressors. Ferroptosis involves various physiological and pathological …

Anterior Spinal Artery Syndrome Following Splanchnic Nerve Cryoablation For Oncological Pain: A Case Report, Marissa Catalanatto, Christian Vangeison, Joseph Roys, Dominic Salvatore Iii, Emanuel Narcis Husu, Donna Huang

Faculty, Staff and Students Publications

Background: Anterior spinal artery syndrome is a diagnosis associated with high morbidity, mortality, and long-term disability. It is a known complication following conventional celiac plexus and splanchnic nerve blocks. The popularity of minimally invasive pain procedures is growing, especially in the domain of oncology, and the interventions are being performed by specialists with varying backgrounds. Complications such as anterior spinal artery syndrome need to be at the forefront of specialists' minds whenever there is manipulation of the celiac plexus or splanchnic nerves. These structures play an integral role in maintaining circulatory perfusion. The earlier hypoperfusion is suspected or confirmed, the …

Commentary: Is The Glass Half Full Or Half Empty?, Monika Halas, Joseph S Coselli

Faculty, Staff and Students Publications

No abstract provided.

Immune Checkpoint Gene Vsir Predicts Patient Prognosis In Acute Myeloid Leukemia And Myelodysplastic Syndromes, Kevin Yao, Emily Zhou, Evelien Schaafsma, Baoyi Zhang, Chao Cheng

Faculty, Staff and Students Publications

Background: Immune checkpoint proteins play critical functions during the immune response to cancer and have been targeted by immune checkpoint blockade therapy. V-domain Ig suppressor of T cell activation (VSIR) is one of these immune checkpoint genes and has been investigated extensively in recent years due to its conflicting roles in cancer immunity. Specifically, in acute myeloid leukemia (AML), the prognostic value of VSIR is debated.

Results: In both patient tumor samples and cancer cell lines we find that VSIR has the highest expression in AML out of all cancer types and, in AML, has the highest expression out of …

Outcomes Of Full And Partial Cardiac Autotransplantation For Complex Left-Sided Heart Tumors, Qasim Al Abri, Lamees I El Nihum, Areeba Ali, Duc T Nguyen, Edward A Graviss, Thomas E Macgillivray, Michael J Reardon

Faculty, Staff and Students Publications

Background: Complex or malignant left-sided heart tumors present a challenge for resection and reconstruction. Cardiac autotransplantation was developed to address this but is a complex technique. Partial autotransplantation was developed to simplify the procedure. This study evaluates the outcomes of partial cardiac autotransplantation compared with those of full cardiac autotransplantation.

Methods: We analyzed our prospectively collected cardiac tumor database for cases between 1998 and 2022 requiring full or partial cardiac autotransplantation. The primary end points for the study were morbidities including bleeding, total blood transfusions, renal failure, prolonged ventilation (>48 hours), arrhythmias, total cardiopulmonary bypass time, total aortic clamp …

Urine Complement Factor Ba Is Associated With Aki In Critically Ill Children, Erin K Stenson, Charles L Edelstein, Zhiying You, Shinobu Miyazaki-Anzai, Joshua M Thurman, Bradley P Dixon, Michael Zappitelli, Stuart L Goldstein, Ayse Akcan Arikan, Jessica Kendrick

Faculty, Staff and Students Publications

KEY POINTS: Complement activation, specifically factor B, is implicated in AKI pathogenesis in animal models. Urine Ba (an activation fragment of factor B) was significantly higher in critically ill children with stage 3 AKI and sepsis-AKI. If larger studies show similar association between urine Ba and AKI severity, clinical trials of factor B inhibition are warranted.

BACKGROUND:: Critically ill children with AKI have high morbidity and mortality rates and lack treatment options. Complement activation is implicated in AKI pathogenesis, which could be treated with complement-targeted therapeutics. We assessed for an association between urine Ba, an activation fragment of the alternative …

Asthma And Cardiovascular Disease: A Bidirectional Association?, Muhammad Adrish, Nicola A Hanania

Faculty, Staff and Students Publications

No abstract provided.

Corrigendum To 'The Hemophilia Joint Health Score Version 21 Validation In Adult Patients Study: A Multicenter International Study' [Research And Practice In Thrombosis And Haemostasis, 6/2, (2022) E12690], Adrian Minford, Leonardo R Brand Ao, Maha Othman, Christoph Male, Rezan Abdul-Kadir, Paul Monagle, Andrew D Mumford, Dorothy Adcock, Björn Dahlbäck, Predrag Miljic, Maria T Desancho, Jun Teruya

Faculty, Staff and Students Publications

This corrects the article "The Hemophilia Joint Health Score version 2.1 Validation in Adult Patients Study: A multicenter international study" in volume 6, e12690.

Peri-Implant Proximal Humerus Fracture Stabilized With Stacked Plating: A Case Report., Daniel T Degenova, Matthew T Glazier, John B Schrock, Brian W Skura, Taylor N Hockman, Benjamin C Taylor

Surgery Articles

INTRODUCTION: A peri-implant proximal humerus fracture is a rare complication after open reduction and internal fixation (ORIF) and poses a surgical dilemma.

CASE REPORT: A 56-year-old male sustained a peri-implant proximal humerus fracture after undergoing ORIF. We present a stacked plating method for fixation of this injury. This construct allows for decreased operative time, less soft-tissue dissection, and the ability to leave previous intact hardware in place.

CONCLUSION: We describe the rare case of a peri-implant proximal humerus treated with stacked plating.

Differences Between Patients With Diabetes Mellitus And Those Without In Cases Of Necrotizing Fasciitis., Daniel T Degenova, Scott S Hyland, Tucker Peabody, Nolan P Schmitz, Devon Myers, Robert Patterson, Jignesh Patel

Surgery Articles

Purposes This study aims to evaluate further differences between patients with diabetes and those without who have been diagnosed with necrotizing fasciitis (NF) to assist clinicians in improving morbidity and mortality. Methods All patients diagnosed with NF of an extremity were retrospectively reviewed and divided into two groups based on a diagnosis of diabetes. Patient charts were reviewed to obtain multiple variables, which were compared between groups. Results From 2015 to 2021, 115 patients underwent surgical intervention due to concern for NF of an extremity with 92 patients included for data computation. Patients with diabetes had an average Laboratory Risk …

Smurf1 Attenuates Endoplasmic Reticulum Stress By Promoting The Degradation Of Keap1 To Activate Nrf2 Antioxidant Pathway, Amita Singh, Gabriel Bonnell, Justin De Prey, Natalie Buchwald, Kyrillos Eskander, Keith J Kincaid, Christina A Wilson

Faculty, Staff and Student Publications

Cerebral small-vessels are generally located in the brain at branch points from major cerebral blood vessels and perfuse subcortical structures such as the white matter tracts, basal ganglia, thalamus, and pons. Cerebral small-vessel disease (CSVD) can lead to several different clinical manifestations including ischemic lacunar stroke, intracerebral hemorrhage, and vascular dementia. Risk factors for CSVD overlap with conventional vascular risk factors including hypertension, diabetes mellitus, and hypercholesterolemia, as well as genetic causes. As in cardiovascular disease, treatment of CSVD involves both primary and secondary prevention. Aspirin has not been established as a primary prevention strategy for CSVD among the general …

Blood Neutrophil Count And Neutrophil-To-Lymphocyte Ratio For Prediction Of Disease Progression And Mortality In Two Independent Systemic Sclerosis Cohorts, Nancy Wareing, Vishnu Mohan, Rana Taherian, Elizabeth R Volkmann, Marka A Lyons, Holly Wilhalme, Michael D Roth, Rosa M Estrada-Y-Martin, Brian Skaug, Maureen D Mayes, Donald P Tashkin, Shervin Assassi

Faculty, Staff and Student Publications

OBJECTIVE: To assess the predictive significance of blood neutrophil count and the ratio between neutrophil and lymphocyte count (neutrophil-to-lymphocyte ratio [NLR]) for disease severity and mortality in systemic sclerosis (SSc).

METHODS: Neutrophil and lymphocyte counts were prospectively measured in the Genetics versus Environment in Scleroderma Outcome Study (GENISOS) and the Scleroderma Lung Study II (SLS II). Forced vital capacity percent predicted (FVC%) and modified Rodnan skin thickness score (MRSS) were used as surrogate measures for disease severity. Longitudinal analyses were performed using generalized linear mixed models. Cox proportional hazards models evaluated the predictive significance of these cell counts for mortality. …

An Echogenic Clot Method For Thrombolysis Monitoring In Thrombotic Stroke Models, Dalton E Carter, Tao Peng, Melanie R Moody, Shao-Ling Huang, David D Mcpherson, Melvin E Klegerman

Faculty, Staff and Student Publications

To demonstrate thrombolytic efficacy of a tissue plasminogen activator (tPA)-loaded echogenic liposome (TELIP) formulation in a rabbit thrombotic stroke model (the most relevant animal model for evaluation of directed thrombolytic therapy for ischemic stroke), we sought to develop a means of monitoring thrombus dissolution quantitatively by ultrasound imaging methods. We hypothesized that a gas-free ultrasound contrast agent can be incorporated into blood clots at a concentration that does not affect the tPA-mediated clot dissolution rate, while enabling quantitative assessment of the clot dissolution rate. Clots were formed from a mixture of whole rabbit blood, 1 M calcium chloride, human thrombin …

Juvenile-Type Granulosa Cell Tumor In Pregnancy Presenting As A Ruptured Abdominal Mass, Odinaka Mogor, Steven Feinstein, Glen Friedman, Jose Salvador Saldivar, Melissa Mendez

HCA Healthcare Journal of Medicine

Introduction

Granulosa cell tumors (GCTs) are part of the sex cord-stromal tumors occurring with a rare incidence rate that only makes up about 2-5% of all ovarian malignancies.

Case Presentation

A 28-year-old woman, gravida 2, para 1, presented with a juvenile-type granulosa cell tumor at 31 weeks gestation, which appeared as a rapidly growing mass with rupture. She underwent an exploratory laparotomy with unilateral salpingo-oophorectomy, and consequently had a successful vaginal delivery. Post-operatively she was treated with paclitaxel and carboplatin chemotherapy regimen with no evidence of recurrence after one year.

Conclusion

Radical surgical management is recommended for these tumors due …

Calciphylaxis, A Case Series: The Importance Of Early Detection, Nikita Sijapati, Suy Sen Hung Fong, Omar Ansari, Subhasis Misra, Edgar Mercado, My Myers, Vijay Narasimha

HCA Healthcare Journal of Medicine

Introduction

Calciphylaxis is a rare disorder that involves the formation of cutaneous, subcutaneous, and vascular calcifications. Although it is predominantly seen in patients with end-stage renal disease (ESRD), it has also been reported in patients without chronic kidney disease. The presence of multiple risk factors, a poorly understood mechanism, high mortality, and the lack of standardized treatment make calciphylaxis an important subject.

Case Presentation

We describe the clinical presentation, disease course, and management of 3 patients with calciphylaxis and also provide a literature review. In all 3 patients, the diagnosis was confirmed histologically, and the management involved the continuation of …

Complications Of Cardiopulmonary Bypass From An Anesthesia Perspective: A Clinical Review, Alex Roberts, Elizabeth C. Duncan, Paul Hargrave, David Redding Kingery, Josh Barnes, Derek L. Horstemeyer, Russell F. Stahl

HCA Healthcare Journal of Medicine

Cardiopulmonary bypass (CPB) is frequently used for open heart surgery and other procedures that utilize temporary substitution or support of heart and lung function. While it is widely accepted as the predominant method to carry out these procedures, it is not without possible complications. CPB can be seen as the ultimate “team sport” as it includes and is dependent on contributions from multiple professionals including anesthesiologists, cardiothoracic surgeons, and perfusion technicians. In this clinical review paper, we examine possible complications of CPB, primarily from the perspective of the anesthesiologist, and how to troubleshoot them if they arise, which often requires …

The Legal Limits Of Parental Autonomy: Do Parents Have The Right To Refuse Intramuscular Vitamin K For Their Newborn?, Shannon M. Isennock

HCA Healthcare Journal of Medicine

The American Academy of Pediatrics recommends that all newborns receive an intramuscular (IM) dose of vitamin K within 6 hours of delivery for the prevention of vitamin K deficiency bleeding (VKDB). There has been an increase in the number of parents who have refused the IM vitamin K dose for their infant based on its possible link to leukemia, preservatives that may lead to adverse reactions, and wanting to avoid pain for the infant. When newborns do not receive IM vitamin K, the most serious feared potential complication is intracranial hemorrhage with potential neurologic sequela including seizures, developmental delay, and …

Approximating Scaffold Printability Utilizing Computational Methods, Ashkan Sedigh, Pejman Ghelich, Jacob Quint, Evelyn C Mollocana-Lara, Mohamadmahdi Samandari, Ali Tamayol, Ryan E. Tomlinson

Department of Orthopaedic Surgery Faculty Papers

Bioprinting facilitates the generation of complex, three-dimensional (3D), cell-based constructs for various applications. Although multiple bioprinting technologies have been developed, extrusion-based systems have become the dominant technology due to the diversity of materials (bioinks) that can be utilized, either individually or in combination. However, each bioink has unique material properties and extrusion characteristics that affect bioprinting utility, accuracy, and precision. Here, we have extended our previous work to achieve high precision (i.e. repeatability) and printability across samples by optimizing bioink-specific printing parameters. Specifically, we hypothesized that a fuzzy inference system (FIS) could be used as a computational method to address …

Higher Doses Of Tisagenlecleucel Are Associated With Improved Outcomes: A Report From The Pediatric Real-World Car Consortium., Heather E. Stefanski, Anne Eaton, Christina Baggott, Jenna Rossoff, Michael R. Verneris, Snehit Prabhu, Holly L. Pacenta, Christine L. Phillips, Julie-An Talano, Amy Moskop, Steven P. Margossian, Douglas Myers, Nicole A. Karras, Patrick A. Brown, Muna Qayed, Michelle Hermiston, Prakash Satwani, M Christa Krupski, Amy K. Keating, Rachel Wilcox, Cara A. Rabik, Vanessa A. Fabrizio, Vasant Chinnabhandar, A Yasemin Goksenin, Kevin J. Curran, Crystal L. Mackall, Theodore W. Laetsch, Liora M. Schultz

Manuscripts, Articles, Book Chapters and Other Papers

Remarkable complete response rates have been shown with tisagenlecleucel, a chimeric antigen receptor (CAR) T-cell therapy targeting CD19, in patients up to age 26 years with refractory/relapsed B-cell acute lymphoblastic leukemia; it is US Food and Drug Administration approved for this indication. Currently, patients receive a single dose of tisagenlecleucel across a wide dose range of 0.2 to 5.0 × 106 and 0.1 to 2.5 × 108 CAR T cells per kg for patients ≤50 and >50 kg, respectively. The effect of cell dose on survival and remission is not yet well established. Our primary goal was to determine if …

Reducing Inequities In Maternal And Child Health In Rural Guatemala Through The Cbio+ Approach Of Curamericas: 2. Study Site, Design, And Methods, Henry B. Perry, Mario Valdez, Stanley Blanco, Ramiro Llanque, Shayanne Martin, Jason Lambden, Corey Gregg, Kaitlin Leach, Elijah Olivas, Barbara Muffoletto, Jacqueline Wallace, Nina Modanlo, Erin Pfeiffer, Carey C. Westgate, Breanne Lesnar, Ira Stollak

School of Medicine Faculty Publications

Background The Curamericas/Guatemala Maternal and Child Health Project, 2011–2015, included implementation research designed to assess the effectiveness of an approach referred to as CBIO+ , composed of: (1) the Census- Based, Impact-Oriented (CBIO) Approach, (2) the Care Group Approach, and (3) the Community Birthing Center Approach. This is the second paper in a supplement of 10 articles describing the implementation research and its findings. Paper 1 describes CBIO+ , the Project Area, and how the Project was implemented. Objective This paper describes the implementation research design and details of how it was carried out. Methods We reviewed the original implementation …

Toll-Like Receptor 4 Signaling In Osteoblasts Is Required For Load-Induced Bone Formation In Mice, Ibtesam Rajpar, Gaurav Kumar, Paolo Fortina, Ryan E. Tomlinson

Department of Orthopaedic Surgery Faculty Papers

In mature bone, NGF is produced by osteoblasts following mechanical loading and signals through resident sensory nerves expressing its high affinity receptor, neurotrophic tyrosine kinase receptor type 1 (TrkA), to support bone formation. Here, we investigated whether osteoblastic expression of Toll-like receptor 4 (TLR4), a key receptor in the NF-κB signaling pathway, is required to initiate NGF-TrkA signaling required for load-induced bone formation. Although Tlr4 conditional knockout mice have normal skeletal mass and strength in adulthood, the loss of TLR4 signaling significantly reduced lamellar bone formation following loading. Inhibition of TLR4 signaling reduced Ngf expression in primary osteoblasts and RNA …

Determinants And Mechanisms Of The Low Fusogenicity And High Dependence On Endosomal Entry Of Omicron Subvariants, Panke Qu, John P Evans, Chaitanya Kurhade, Cong Zeng, Yi-Min Zheng, Kai Xu, Pei-Yong Shi, Xuping Xie, Shan-Lu Liu

Faculty, Staff and Student Publications

The rapid spread and strong immune evasion of the SARS-CoV-2 Omicron subvariants has raised serious concerns for the global COVID-19 pandemic. These new variants exhibit generally reduced fusogenicity and increased endosomal entry pathway utilization compared to the ancestral D614G variant, the underlying mechanisms of which remain elusive. Here, we show that the C-terminal S1 mutations of the BA.1.1 subvariant, H655Y and T547K, critically govern the low fusogenicity of Omicron. Notably, H655Y also dictates the enhanced endosome entry pathway utilization. Mechanistically, T547K and H655Y likely stabilize the spike trimer conformation as suggested by increased molecular interactions in structural modeling and enhanced …

Allosteric Autoregulation Of Dna Binding Via A Dna-Mimicking Protein Domain: A Biophysical Study Of Znf410-Dna Interaction Using Small Angle X-Ray Scattering, Gundeep Kaur, Ren Ren, Michal Hammel, John R Horton, Jie Yang, Yu Cao, Chenxi He, Fei Lan, Xianjiang Lan, Gerd A Blobel, Robert M Blumenthal, Xing Zhang, Xiaodong Cheng

Faculty, Staff and Student Publications

ZNF410 is a highly-conserved transcription factor, remarkable in that it recognizes a 15-base pair DNA element but has just a single responsive target gene in mammalian erythroid cells. ZNF410 includes a tandem array of five zinc-fingers (ZFs), surrounded by uncharacterized N- and C-terminal regions. Unexpectedly, full-length ZNF410 has reduced DNA binding affinity, compared to that of the isolated DNA binding ZF array, both in vitro and in cells. AlphaFold predicts a partially-folded N-terminal subdomain that includes a 30-residue long helix, preceded by a hairpin loop rich in acidic (aspartate/glutamate) and serine/threonine residues. This hairpin loop is predicted by AlphaFold to …

Does The Potocki-Lupski Syndrome Convey The Autism Spectrum Disorder Phenotype? Case Report And Scoping Review, Oksana I Talantseva, Galina V Portnova, Raisa S Romanova, Daria A Martynova, Olga V Sysoeva, Elena L Grigorenko

Faculty, Staff and Students Publications

Potocki-Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common among patients with PTLS. To contribute to the discussion of the role of autism spectrum disorder (ASD) in the PTLS phenotype, we present a case of a female adolescent with a de novo dup(17) (p11.2p11.2) without ASD features, focusing on in-depth clinical, behavioral, and electrophysiological (EEG) evaluations. Among EEG features, we found the atypical peak-slow wave patterns …