Digital Commons Network^™

Math Word Problem Generation Via Disentangled Memory Retrieval, Wei Qin, Xiaowei Wang, Zhenzhen Hu, Lei Wang, Yunshi Lan, Richang Hong

Research Collection Lee Kong Chian School Of Business

The task of math word problem (MWP) generation, which generates an MWP given an equation and relevant topic words, has increasingly attracted researchers’ attention. In this work, we introduce a simple memory retrieval module to search related training MWPs, which are used to augment the generation. To retrieve more relevant training data, we also propose a disentangled memory retrieval module based on the simple memory retrieval module. To this end, we first disentangle the training MWPs into logical description and scenario description and then record them in respective memory modules. Later, we use the given equation and topic words as …

A Review Of Gerd Lüdemann’S Methodology In “The Resurrection Of Christ: A Historical Inquiry”, Kelvin Ruel G. Novabos

Loyola Papers

This article critically evaluates Gerd Lüdemann’s historical methodology in his study of the resurrection of Jesus. Situating Lüdemann’s work within the broader context of the quests for the historical Jesus, this paper identifies both its methodological strengths and its limitations, particularly its reliance on a strictly historical-critical approach. It argues that a more integrative methodology—drawing from developments in the third quest—would yield a more balanced and credible interpretation of the resurrection accounts.

Fetoscopic Endoluminal Tracheal Occlusion For Severe, Left-Sided Congenital Diaphragmatic Hernia: The North American Fetal Therapy Network Fetoscopic Endoluminal Tracheal Occlusion Consortium Experience, Eric Bergh, Ahmet A Baschat, Magdalena Sanz Cortes, Holly L Hedrick, Greg Ryan, Foong-Yen Lim, Michael V Zaretsky, Mauro H Schenone, Timothy M Crombleholme, Rodrigo Ruano, Kristen A Gosnell, Anthony Johnson

Faculty, Staff and Students Publications

OBJECTIVE: To report the outcomes of fetoscopic endoluminal tracheal occlusion in a multicenter North American cohort of patients with isolated, left-sided congenital diaphragmatic hernia (CDH) and to compare neonatal mortality and morbidity in patients with severe left-sided congenital diaphragmatic hernia who underwent fetoscopic endoluminal tracheal occlusion with those expectantly managed.

METHODS: We analyzed data from 10 centers in the NAFTNet (North American Fetal Therapy Network) FETO (Fetoscopic Endoluminal Tracheal Occlusion) Consortium registry, collected between November 1, 2008, and December 31, 2020. In addition to reporting procedure-related surgical outcomes of fetoscopic endoluminal tracheal occlusion, we performed a comparative analysis of fetoscopic …

The Role Of Artificial Intelligence For Providing Scientific Content For Laboratory Medicine, Alan H B Wu, Allan S Jaffe, William Franklin Peacock, Pete Kavsak, Dina Greene, Robert H Christenson

Faculty, Staff and Students Publications

Background: Artificial intelligence (AI) promises to become an important tool in the practice of laboratory medicine. AI programs are available online that can provide concise medical and laboratory information within seconds after a question is submitted.

Methods: We posed the following contemporary and relevant question for clinical chemists using an AI program: "Should labs eliminate CK-MB testing?" The results of this inquiry were critically reviewed by a cardiologist, emergency department physician, and clinical laboratorians for accuracy and appropriateness.

Results: An AI report answering this question was generated within 15 s. The experts felt that the information was inaccurate with the …

Invited Commentary On Andersen S, Et Al Developmental Windows Of Environmental Vulnerability For Inflammatory Bowel Disease, David A Simon, Richard Kellermayer

Faculty, Staff and Students Publications

No abstract provided.

Psychosocial Moderators Of Polygenic Risk Scores Of Inflammatory Biomarkers In Relation To Grimage, Amanda J F Tamman, Dora Koller, Sheila Nagamatsu, Brenda Cabrera-Mendoza, Chadi Abdallah, John H Krystal, Joel Gelernter, Janitza L Montalvo-Ortiz, Renato Polimanti, Robert H Pietrzak

Faculty, Staff and Students Publications

GrimAge acceleration has previously predicted age-related morbidities and mortality. In the current study, we sought to examine how GrimAge is associated with genetic predisposition for systemic inflammation and whether psychosocial factors moderate this association. Military veterans from the National Health and Resilience in Veterans study, which surveyed a nationally representative sample of European American male veterans, provided saliva samples for genotyping (N = 1135). We derived polygenic risk scores (PRS) from the UK Biobank as markers of genetic predisposition to inflammation. Results revealed that PRS for three inflammatory PRS markers—HDL (lower), apolipoprotein B (lower), and gamma-glutamyl transferase (higher)—were associated …

The Pug Flap: Conjoined Profunda Artery Perforator And Upper Gracilis Flap For Breast Reconstruction, Isra Abdulwadood, Lacey R Pflibsen, Nicholas R Jarvis, Sebastian Winocour, Alanna M Rebecca, William J Casey, Edward M Reece

Faculty, Staff and Students Publications

Abdominal-based free flaps are the mainstay of autologous breast reconstruction; however, the region may not be ideal for patients with inadequate soft tissue or history of abdominal surgery. This case describes the use of a novel conjoined flap based on the profunda artery perforator and upper gracilis pedicles, named the perforator and upper gracilis (PUG) flap. This flap design aims to maximize medial thigh flap volume while ensuring robust tissue perforation. Here, we present our experience with the PUG flap in a breast cancer patient undergoing autologous reconstruction. The patient was a 41-year-old woman seeking nipple-sparing mastectomy and immediate autologous …

Environmental Justice: A Missing Core Tenet Of Global Health, Redeat Workneh, Merhawit Abadi, Krystle Perez, Sharla Rent, Elliott Mark Weiss, Stephanie Kukora, Olivia Brandon, Gal Barbut, Sahar Rahiem, Shaphil Wallie, Joseph Mhango, Benjamin C Shayo, Friday Saidi, Gesit Metaferia, Mahlet Abayneh, Gregory C Valentine

Faculty, Staff and Students Publications

No abstract provided.

Fine-Needle Aspiration Of Amyloidoma: A Critical Analysis, Nisha S Ramani, Bhuvaneswari Krishnan

Faculty, Staff and Students Publications

Background: Amyloid, presenting as a mass, is termed amyloidoma. Among the reported cases, fine-needle aspiration (FNA) of amyloid is often misinterpreted as acellular nondiagnostic material.

Methods: A computer search of all FNAs was performed and cases diagnosed as amyloidoma were identified.

Results: Among 11,956 cases and 20,634 FNAs, there were six cases and 12 FNAs of amyloidoma. One case with mucin/myxoid matrix was misinterpreted as amyloid, which on our review was Congo red negative. All five other cases of amyloidoma were adequate for evaluation. The smears showed most of the aspirated contents in the middle of the slide and it …

Case Of Nocturnal Emesis, Weight Loss, And Aspiration Pneumonia, Roman Babayev, Sharonda Taylor, Elizabeth V Franklin

Faculty, Staff and Students Publications

No abstract provided.

Bosutinib In Resistant And Intolerant Pediatric Patients With Chronic Phase Chronic Myeloid Leukemia: Results From The Phase I Part Of Study Itcc054/Cog Aaml1921, Erica Brivio, Edoardo Pennesi, Marieke E Willemse, Alwin D R Huitema, Yilin Jiang, Harm D R Van Tinteren, Vincent H J Van Der Velden, Berna H Beverloo, Monique L Den Boer, Lukas A J Rammeloo, Chad Hudson, Nyla Heerema, Karey Kowalski, Huadong Zhao, Luke Kuttschreuter, Francisco J Bautista Sirvent, Andrew Bukowinski, Carmelo Rizzari, Jessica Pollard, Laura Murillo-Sanjuán, Matthew Kutny, Sara Zarnegar-Lumley, Michele Redell, Stacy Cooper, Yves Bertrand, Arnaud Petit, Julie Krystal, Markus Metzler, Donna Lancaster, Jean-Pierre Bourquin, Jayashree Motwani, Inge M Van Der Sluis, Franco Locatelli, Michael E Roth, Nobuko Hijiya, Christian M Zwaan

Faculty, Staff and Students Publications

Purpose: Bosutinib is approved for adults with chronic myeloid leukemia (CML): 400 mg once daily in newly diagnosed (ND); 500 mg once daily in resistant/intolerant (R/I) patients. Bosutinib has a different tolerability profile than other tyrosine kinase inhibitors (TKIs) and potentially less impact on growth (preclinical data). The primary objective of this first-in-child trial was to determine the recommended phase II dose (RP2D) for pediatric R/I and ND patients.

Patients and methods: In the phase I part of this international, open-label trial (ClinicalTrials.gov identifier: NCT04258943), children age 1-18 years with R/I (per European LeukemiaNet 2013) Ph+ CML were enrolled …

Tuberculosis In People Of Ukrainian Origin In The European Union And The European Economic Area, 2019 To 2022, Krista Stoycheva, Veronica Cristea, Csaba Ködmön, Senia Rosales-Klintz, Dominik Zenner, Anca Vasiliu, Marieke Van Der Werf, Christoph Lange

Faculty, Staff and Students Publications

Approximately five million Ukrainians were displaced to the EU/EEA following the Russian invasion of Ukraine. While tuberculosis (TB) notification rates per 100,000 Ukrainians in the EU/EEA remained stable, the number of notified TB cases in Ukrainians increased almost fourfold (mean 2019-2021: 201; 2022: 780). In 2022, 71% cases were notified in three countries, and almost 20% of drug-resistant TB cases were of Ukrainian origin. Targeted healthcare services for Ukrainians are vital for early diagnosis and treatment, and preventing transmission.

Diagnostic Yield Of Exome Sequencing In Prenatal Agenesis Of Corpus Callosum: Systematic Review And Meta-Analysis, H. J. Mustafa, J. P. Barbera, E. V. Sambatur, G. Pagani, Y. Yaron, C. D. Baptiste, R. J. Wapner, C. J. Brewer, A. Khalil

Department of Medicine Faculty Papers

OBJECTIVES: To determine the incremental diagnostic yield of exome sequencing (ES) after negative chromosomal microarray analysis (CMA) in cases of prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify the associated genes and variants.

METHODS: A systematic search was performed to identify relevant studies published up until June 2022 using four databases: PubMed, SCOPUS, Web of Science and The Cochrane Library. Studies in English reporting on the diagnostic yield of ES following negative CMA in prenatally diagnosed partial or complete ACC were included. Authors of cohort studies were contacted for individual participant data and extended cohorts were provided …

Incongruity Between T Cell Receptor Recognition Of Breast Cancer Hotspot Mutations Esr1 Y537s And D538g Following Exogenous Peptide Loading Versus Endogenous Antigen Processing, Paul Shafer, Wingchi K Leung, Mae Woods, Jong Min Choi, Carlos M Rodriguez-Plata, Arushana Maknojia, Andres Mosquera, Lauren K Somes, Jarrett Joubert, Anthony Manliguez, Rashi Ranjan, Bryan Burt, Hyun-Sung Lee, Bing Zhang, Suzanne Fuqua, Cliona Rooney, Ann M Leen, Valentina Hoyos

Faculty, Staff and Students Publications

T cell receptor engineered T cell (TCR T) therapies have shown recent efficacy against certain types of solid metastatic cancers. However, to extend TCR T therapies to treat more patients across additional cancer types, new TCRs recognizing cancer-specific antigen targets are needed. Driver mutations in AKT1, ESR1, PIK3CA, and TP53 are common in patients with metastatic breast cancer (MBC) and if immunogenic could serve as ideal tumor-specific targets for TCR T therapy to treat this disease. Through IFN-γ ELISpot screening of in vitro expanded neopeptide-stimulated T cell lines from healthy donors and MBC patients, we identified reactivity towards 11 of …

Increased Plasma Branched Short-Chain Fatty Acids And Improved Glucose Homeostasis: The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Arianne Aslamy, Alexis C Wood, Elizabeth T Jensen, Alain G Bertoni, Patricia A Sheridan, Kari E Wong, Gautam Ramesh, Jerome I Rotter, Yii-Der I Chen, Mark O Goodarzi

Faculty, Staff and Students Publications

Short-chain fatty acids (SCFAs) have been extensively studied for potential beneficial roles in glucose homeostasis and risk of diabetes; however, most of this research has focused on butyrate, acetate, and propionate. The effect on metabolism of branched SCFAs (BSCFAs; isobutyrate, isovalerate, and methylbutyrate) is largely unknown. In a cohort of 219 non-Hispanic White participants and 126 African American participants, we examined the association of BSCFA with dysglycemia (prediabetes and diabetes) and oral glucose tolerance test-based measures of glucose and insulin homeostasis, as well as with demographic, anthropometric, lifestyle, and lipid traits, and other SCFAs. We observed a bimodal distribution of …

Performance Characteristics Of Sepsis Screening Tools During Antepartum And Postpartum Admissions, Melissa E Bauer, Matt Fuller, Vesela Kovacheva, Rania Elkhateb, Kristen Azar, Morgan Caldwell, Vanna Chiem, Mindy Foster, Ronald Gibbs, Brenna L Hughes, Rebecca Johnson, Nobin Kottukapally, Melissa G Rosenstein, Magdalena Sanz Cortes, Laurence E Shields, Sylvia Sudat, Caitlin D Sutton, Paloma Toledo, Austin Traylor, Kurt Wharton, Elliott Main

Faculty, Staff and Students Publications

Objective: To evaluate the performance characteristics of existing screening tools for the prediction of sepsis during antepartum and postpartum readmissions.

Methods: This was a case-control study using electronic health record data obtained between 2016 and 2021 from 67 hospitals for antepartum sepsis admissions and 71 hospitals for postpartum readmissions up to 42 days. Patients in the sepsis case group were matched in a 1:4 ratio to a comparison cohort of patients without sepsis admitted antepartum or postpartum. The following screening criteria were evaluated: the CMQCC (California Maternal Quality Care Collaborative) initial sepsis screen, the non-pregnancy-adjusted SIRS (Systemic Inflammatory Response Syndrome), …

Performance Characteristics Of Sepsis Screening Tools During Delivery Admissions, Elliott K Main, Matt Fuller, Vesela P Kovacheva, Rania Elkhateb, Kristen Azar, Morgan Caldwell, Vanna Chiem, Mindy Foster, Ronald Gibbs, Brenna L Hughes, Rebecca Johnson, Nobin Kottukapally, Magdalena Sanz Cortes, Melissa G Rosenstein, Laurence E Shields, Sylvia Sudat, Caitlin D Sutton, Paloma Toledo, Austin Traylor, Kurt Wharton, Melissa E Bauer

Faculty, Staff and Students Publications

Objective: To evaluate the screening performance characteristics of existing tools for the diagnosis of sepsis during delivery admissions.

Methods: This was a case-control study using electronic health record data, including vital signs and laboratory results, for all delivery admissions of patients with sepsis from 59 nationally distributed hospitals. Patients with sepsis were matched by gestational age at delivery in a 1:4 ratio with patients without sepsis to create a comparison group. Patients with chorioamnionitis and sepsis were compared with a complete cohort of patients with chorioamnionitis without sepsis. Multiple screening criteria for sepsis were evaluated: the CMQCC (California Maternal Quality …

Reply: Efficacy Of Segmented Axial Length And Artificial Intelligence Approaches To Intraocular Lens Power Calculation In Short Eyes, Karim Kozhaya, Peter I Kenny, Li Wang, Mitchell P Weikert, Douglas D Koch

Faculty, Staff and Students Publications

No abstract provided.

Rosiglitazone Improves Insulin Resistance But Does Not Improve Exercise Capacity In Individuals With Impaired Glucose Tolerance: A Randomized Clinical Study, Layla A Abushamat, Irene E Schauer, Cecilia C Low Wang, Stacey Mitchell, Leah Herlache, Mark Bridenstine, Roy Durbin, Janet K Snell-Bergeon, Judith G Regensteiner, Jane Eb Reusch

Faculty, Staff and Students Publications

Dysmetabolic states, such as type 2 diabetes (T2D), characterized by insulin resistance (IR), are associated with fatty liver, increased cardiovascular disease (CVD) risk, and decreased functional exercise capacity (FEC). Rosiglitazone (RO) improves exercise capacity and IR in T2D. However, the effects of RO on FEC and other markers of CVD risk in prediabetes are unknown. We hypothesized that insulin sensitization with RO would improve exercise capacity and markers of CVD risk in participants with impaired glucose tolerance (IGT). Exercise performance (peak oxygen consumption and oxygen uptake kinetics), IR (homeostasis model assessment of IR and quantitative insulin sensitivity check index), and …

Approaches To Sustainability-Driven Innovation In High-Performing Italian Firms: A Cross-Case Analysis, Emanuele Pizzurno, Fausto Cammarano

Journal of Global Business Insights

This paper investigated the nexus between sustainability-oriented innovation (SOI) initiatives and exceptional profitability in high-performing companies. To this aim, employing a multiple comparative case study methodology, we analyzed 10 cases that excel in both return-on-sales (ROS) compared to industry medians and are actively engaged in SOI initiatives with public evidence. The findings of the study are categorized into internal and external factors affecting company performance, shedding light on managerial practices, organizational culture, and industry-specific variables. From a managerial standpoint, this paper offers valuable insights for managers seeking to balance between sustainable practices, encompassing multiple social and environmental aspects of corporate …

Determinants Influencing The Adoption Of Mobile Banking By Women In Bangladesh, Soma Dey, Sacchidanand Majumder

Journal of Global Business Insights

Women’s mobile banking adoption is linked to several advantages, including empowering women, enhancing investment in women-owned businesses, and decreasing extreme poverty.This study explores the demographic and socioeconomic characteristics that affect women’s mobile banking adoption in Bangladesh using Bangladesh Demographic and Health Surveys (DHS; 2020) data. In this study, 12,147 ever-married women aged 15-49 are included in the analysis. The chi-square test is used to examine the effect of socioeconomic and demographic factors on women’s mobile banking adoption. Then, the enter method of a binary logistic regression model is applied to identify the factors most strongly affiliated with it. The result …

Transient Generalized Osteosclerosis In A Newborn Mimicking Congenital Osteopetrosis With Negative Comprehensive Genetic Workup: A Case Report, Jeffrey Hauck, Amanda Gerard, James E Crowe, Caridad A Martinez, Keren Machol

Faculty, Staff and Students Publications

We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.

A Surgical Collaborative To Empower Medical Student Research, Spoorthi Kamepalli, Joseph R Junkin, Syed S Bakhtiyar, Ashley Montgomery, Michael Dileo, Thao N Galván, John A Goss, Abbas A Rana

Faculty, Staff and Students Publications

Mini abstracts: Faculty at the Baylor College of Medicine have developed a flexible research collaborative through which students gain research skills and individualized mentorship. This division has produced 86 trainee first author publications, 64 manuscripts by 34 different medical students with an average Scimago Journal Rank of 1.293 (range: 1.035-1.551) since 2015.

Multi-Season Mobile Monitoring Campaign Of On-Road Air Pollution In Bengaluru, India: High-Resolution Mapping Estimation Of Quasi-Emission Factors, Adithi Upadhya, Meenakshi Kushwaha, Pratyush Agrawal, Jonathan D. Gingrich, Jai Asundi, Sreekanth V, Julian Marshall, Joshua Apte

Faculty Work Comprehensive List

Mobile monitoring can supplement regulatory measurements, particularly in low-income countries where stationary monitors’ density is low. Here, we report results from a ~year-long mobile monitoring campaign of on-road black carbon (BC) mass concentration, ultrafine particle (UFP) number concentration, and carbon dioxide (CO2) in Bengaluru, India. The study route included ~150 unique kms covering urban and peri-urban residential neighborhoods and the central business district (CBD); ~22 repeat measurements were made per monitored road-segment, covering most seasons. After cleaning the data for known instrument artifacts and sensitivities, we generated 30 m high-resolution stable ‘data only’ spatial maps of BC, UFP, and CO2 …

Spontaneous Coronary Artery Dissection With Cardiogenic Shock In The United States, Chayakrit Krittanawong, Dhrubajyoti Bandyopadhyay, Neelkumar Patel, Yusuf Kamran Qadeer, Neil Sagar Maitra, Zhen Wang, Mahboob Alam, Samin Sharma, Hani Jneid

Faculty, Staff and Students Publications

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is defined as a non-traumatic separation of the epicardial coronary artery walls that creates a false lumen. SCAD poses a difficult challenge in management, as decisions regarding revascularization and medical management seem to be tailored to the individual patient. We evaluated and compared outcomes based on cardiogenic shock in patients with SCAD utilizing Nationwide Readmissions Database (NRD) between January 1, 2016, to December 30, 2020.

METHODS: We utilized the NRD 2016-2019 to carry out this study. We evaluated demographics (e.g., age, gender), conventional risk factors, comorbidities present on the index admission, and in-hospital outcomes …

Prognostic Significance Of Acute Kidney Injury Stage 1b In Hospitalized Patients With Cirrhosis: A Us Nationwide Study, Kavish R Patidar, Giuseppe Cullaro, Mobasshir A Naved, Shaowli Kabir, Ananth Grama, Eric S Orman, Salvatore Piano, Andrew S Allegretti

Faculty, Staff and Students Publications

Understanding the prognostic significance of acute kidney injury (AKI) stage 1B [serum creatinine (sCr) ≥1.5 mg/dL] compared with stage 1A (sCr < 1.5 mg/dL) in a US population is important as it can impact initial management decisions for AKI in hospitalized cirrhosis patients. Therefore, we aimed to define outcomes associated with stage 1B in a nationwide US cohort of hospitalized cirrhosis patients with AKI. Hospitalized cirrhosis patients with AKI in the Cerner-Health-Facts database from January 2009 to September 2017 (n = 6250) were assessed for AKI stage 1 (≥1.5-2-fold increase in sCr from baseline) and were followed for 90 days for outcomes. The primary outcome was 90-day mortality; secondary outcomes were in-hospital AKI progression and AKI recovery. Competing-risk multivariable analysis was performed to determine the independent association between stage 1B, 90-day mortality (liver transplant as a competing risk), and AKI recovery (death/liver transplant as a competing risk). Multivariable logistic regression analysis was performed to determine the independent association between stage 1B and AKI progression. In all, 4654 patients with stage 1 were analyzed: 1A (44.3%) and 1B (55.7%). Stage 1B patients had a significantly higher cumulative incidence of 90-day mortality compared with stage 1A patients, 27.2% versus 19.7% ( p < 0.001). In multivariable competing-risk analysis, patients with stage 1B (vs. 1A) had a higher risk for mortality at 90 days [sHR 1.52 (95% CI 1.20-1.92), p = 0.001] and decreased probability for AKI recovery [sHR 0.76 (95% CI 0.69-0.83), p < 0.001]. Furthermore, in multivariable logistic regression analysis, AKI stage 1B (vs. 1A) was independently associated with AKI progression, OR 1.42 (95% CI 1.14-1.72) ( p < 0.001). AKI stage 1B patients have a significantly higher risk for 90-day mortality, AKI progression, and reduced probability of AKI recovery compared with AKI stage 1A patients. These results could guide initial management decisions for AKI in hospitalized patients with cirrhosis.

Tuberculosis In People Of Ukrainian Origin In The European Union And The European Economic Area, 2019 To 2022, Krista Stoycheva, Veronica Cristea, Csaba Ködmön, Senia Rosales-Klintz, Dominik Zenner, Anca Vasiliu, Marieke Van Der Werf, Christoph Lange

Faculty, Staff and Students Publications

Approximately five million Ukrainians were displaced to the EU/EEA following the Russian invasion of Ukraine. While tuberculosis (TB) notification rates per 100,000 Ukrainians in the EU/EEA remained stable, the number of notified TB cases in Ukrainians increased almost fourfold (mean 2019-2021: 201; 2022: 780). In 2022, 71% cases were notified in three countries, and almost 20% of drug-resistant TB cases were of Ukrainian origin. Targeted healthcare services for Ukrainians are vital for early diagnosis and treatment, and preventing transmission.

Environmental Justice: A Missing Core Tenet Of Global Health, Redeat Workneh, Merhawit Abadi, Krystle Perez, Sharla Rent, Elliott Mark Weiss, Stephanie Kukora, Olivia Brandon, Gal Barbut, Sahar Rahiem, Shaphil Wallie, Joseph Mhango, Benjamin C Shayo, Friday Saidi, Gesit Metaferia, Mahlet Abayneh, Gregory C Valentine

Faculty, Staff and Students Publications

No abstract provided.

Case Report: Contralateral Progression Of A Vestibular Schwannoma After Resection In A Patient With Neurofibromatosis Type 2, Ihika Rampalli, Collin William English, Tyler Lazaro, Benjamin Daniel Lovin, Sungho Lee, Andrew Tsao Huang, Ali Jalali, Kathleen Kelly Gallagher, Jacob J Mandel, Alex Daniel Sweeney, Akash J Patel

Faculty, Staff and Students Publications

BACKGROUND AND IMPORTANCE: Bilateral vestibular schwannomas (VS) are a distinctive feature of neurofibromatosis type 2 (NF2) that result in a serious reduction in the quality of life for patients. The growth rates of these schwannomas are variable, and the early detection of increased growth is fundamental for improving outcomes.

CLINICAL PRESENTATION: A 17-year-old man with NF2 and bilateral VS presented with complete right facial paralysis and sudden right hearing loss less than 1 month after resection of a left VS. Imaging revealed rapid growth of the right VS with intratumoral hemorrhage, and the patient underwent urgent surgical resection with some …

Foxp1 Haploinsufficiency Contributes To The Development Of Congenital Diaphragmatic Hernia, Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott

Faculty, Staff and Students Publications

FOXP1 encodes a transcription factor involved in tissue regulation and cell-type-specific functions. Haploinsufficiency of FOXP1 is associated with a neurodevelopmental disorder: autosomal dominant mental retardation with language impairment with or without autistic features. More recently, heterozygous FOXP1 variants have also been shown to cause a variety of structural birth defects including central nervous system (CNS) anomalies, congenital heart defects, congenital anomalies of the kidney and urinary tract, cryptorchidism, and hypospadias. In this report, we present a previously unpublished case of an individual with congenital diaphragmatic hernia (CDH) who carries an approximately 3.8 Mb deletion. Based on this deletion, and deletions …