Medical Specialties Commons^™

Barriers To A Successful Healthcare Transition For Individuals With Urea Cycle Disorders, Farah A Ladha, Cynthia Le Mons, William J Craigen, Pilar L Magoulas, Ronit Marom, Andrea M Lewis

Faculty, Staff and Students Publications

The pediatric to adult healthcare transition (HCT) is a process for individuals with chronic health conditions to gradually shift from a pediatric to an adult-oriented care system. Autonomy and self-management skills required for an individual's HCT readiness can be evaluated through the transition readiness assessment questionnaire (TRAQ). Despite general HCT preparation guidelines, little is known about the HCT experience of individuals with a urea cycle disorder (UCD). This is the first study to report the parent or guardian perception of the HCT process in children with a UCD by investigating the stages of transition readiness and transition outcome. We identify …

Epileptic Spasms In Cdkl5 Deficiency Disorder: Delayed Treatment And Poor Response To First-Line Therapies, Heather E Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N Moosa, Xiaoming Zhang, José R Pérez-Pérez, Judy Weisenberg, Erin O'Connor Prange, Eric D Marsh, Rajsekar R Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle Deleo, Lindsay Swanson, Jamie Love-Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri

Faculty, Staff and Students Publications

OBJECTIVE: We aimed to assess the treatment response of infantile-onset epileptic spasms (ES) in CDKL5 deficiency disorder (CDD) vs other etiologies.

METHODS: We evaluated patients with ES from the CDKL5 Centers of Excellence and the National Infantile Spasms Consortium (NISC), with onset from 2 months to 2 years, treated with adrenocorticotropic hormone (ACTH), oral corticosteroids, vigabatrin, and/or the ketogenic diet. We excluded children with tuberous sclerosis complex, trisomy 21, or unknown etiology with normal development because of known differential treatment responses. We compared the two cohorts for time to treatment and ES remission at 14 days and 3 months.

RESULTS: …

Arterial Spin Labeling Changes Parallel Asymmetric Perisylvian And Perirolandic Symptoms In 3 Pediatric Cases Of Anti-Nmdar Encephalitis, Alexander J Sandweiss, Varun Kannan, Nilesh K Desai, Stephen F Kralik, Eyal Muscal, Kristen S Fisher

Faculty, Staff and Students Publications

BACKGROUND AND OBJECTIVES: Anti-NMDA receptor autoimmune encephalitis (NMDAR AE) is an autoantibody-mediated disorder characterized by seizures, neuropsychiatric symptoms, movement disorder, and focal neurologic deficits. Conventionally defined broadly as an inflammatory brain disease, the heterotopic localization is rarely discussed in children. Imaging findings are often nonspecific, and there are no early biomarkers of disease other than the presence of anti-NMDAR antibodies.

METHODS: We conducted a retrospective analysis of our pediatric NMDAR AE cases (as determined by either positive serum or CSF antibodies or both) at Texas Children's Hospital between 2020-2021 and extracted medical record data of those patients who had arterial …

A Serological Assay To Detect And Differentiate Rodent Exposure To Soft Tick And Hard Tick Relapsing Fever Infections In The United States, Christina M Parise, Ying Bai, Kevin S Brandt, Shelby L Ford, Sarah Maes, Adam J Replogle, Alexander R Kneubehl, Job E Lopez, Rebecca J Eisen, Andrias Hojgaard

Faculty, Staff and Students Publications

Human cases of relapsing fever (RF) in North America are caused primarily by Borrelia hermsii and Borrelia turicatae, which are spread by argasid (soft) ticks, and by Borrelia miyamotoi, which is transmitted by ixodid (hard) ticks. In some regions of the United States, the ranges of the hard and soft tick RF species are known to overlap; in many areas, recorded ranges of RF spirochetes overlap with Lyme disease (LD) group Borrelia spirochetes. Identification of RF clusters or cases detected in unusual geographic localities might prompt public health agencies to investigate environmental exposures, enabling prevention of additional cases through locally …

Obsessive-Compulsive Disorder In Youth And Young Adults With Depression: Clinical Characteristics Of Comorbid Presentations, David B Riddle, Andrew Guzick, Abu Minhajuddin, Orri Smárason, Gabrielle M Armstrong, Holli Slater, Taryn L Mayes, Lynnel C Goodman, Denise L Baughn, Sarah L Martin, Sarah M Wakefield, Joseph Blader, Ryan Brown, Wayne K Goodman, Madhukar H Trivedi, Eric A Storch

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD), anxiety disorders, and depressive disorders are highly comorbid, and each contribute to significant functional impairment for affected youth. Comorbid anxiety disorders in depressed youth have been associated with greater depressive symptom severity and impairment, but the impact of comorbid OCD in this population remains unclear. Accordingly, the present study examined the differential clinical characteristics of youth with depression and comorbid OCD relative to age/gender matched depressed youth with no such comorbidity and to those with depression and a comorbid (non-OCD) anxiety disorder. A sample of 797 youth and young adults ages 8-20 years who met diagnostic criteria …

Distinct Serum Immune Profiles Define The Spectrum Of Acute And Chronic Pancreatitis From The Multicenter Prospective Evaluation Of Chronic Pancreatitis For Epidemiologic And Translational Studies (Proceed) Study, Bomi Lee, Elaina K Jones, Murli Manohar, Liang Li, Dhiraj Yadav, Darwin L Conwell, Phil A Hart, Santhi Swaroop Vege, Evan L Fogel, Jose Serrano, Dana Andersen, Melena D Bellin, Mark D Topazian, Stephen K Van Den Eeden, Stephen J Pandol, Chris E Forsmark, William E Fisher, Walter G Park, Sohail Z Husain, Aida Habtezion, Consortium For The Study Of Chronic Pancreatitis, Diabetes, And Pancreatic Cancer (Cpdpc)

Faculty, Staff and Students Publications

BACKGROUND & AIMS: Pancreatitis is a disease continuum, starting with acute pancreatitis (AP) and progressing in some cases to recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP). Currently, there are no approved therapies or early diagnostic or prognostic biomarkers for pancreatitis. The current study examined whether patient serum immune profiling could identify noninvasive biomarkers and provide mechanistic insight into the disease continuum of pancreatitis.

METHODS: Using Olink immunoassay, we assessed the protein levels of 92 immune markers in serum samples from participants enrolled in the Prospective Evaluation of Chronic Pancreatitis for Epidemiologic and Translational Studies (PROCEED) study of the Chronic …

Radiologic-Pathologic Correlation Of Covid-19-Associated Acute Disseminated Encephalomyelitis, Amy Bezold, Huda Hussain, Julum Nwanze, James T Roberts, Kuang-Chun J Hsieh

Faculty, Staff and Students Publications

A 42-year-old woman presented with drooling, slurred speech, inability to walk and talk, and a recent positive COVID-19 test. She had two prior hospital admissions within the past week for similar symptoms with inconclusive evaluation. MRI of the brain demonstrated multifocal white matter hyperintense lesions on fluid-attenuated inversion recovery (FLAIR)/diffusion with variable enhancement. These imaging findings have been described in recent literature and are associated with inflammatory demyelinating disease, such as acute disseminated encephalomyelitis. The patient subsequently underwent a brain biopsy with a final diagnosis of inflammatory demyelinating lesion. To our knowledge, this is the first radiologic-pathologic correlation of COVID-19-associated …

Early Intraoperative Detection And Management Of Right Ventricular Failure After Left Ventricular Assist Device Implantation, Thomas R Powell

Faculty, Staff and Students Publications

No abstract provided.

Management Of Heart Failure-Related Cardiogenic Shock: Practical Guidance For Clinicians, Nikhil Narang, Vanessa Blumer, Marwan F Jumean, Biswajit Kar, Dharam J Kumbhani, Biykem Bozkurt, Nir Uriel, Maya Guglin, Navin K Kapur

Faculty, Staff and Students Publications

No abstract provided.

Outcomes Of Temporary Ventricular Assist Device: A Pediatric Institutional Experience Over 25 Years, Junsang Cho, Andres A Fuentes-Baldemar, Hari P Tunuguntla, Joseph A Spinner, Sebastian C Tume, Athar M Qureshi, Jun Teruya, Jeffrey S Heinle, Iki Adachi

Faculty, Staff and Students Publications

Background: There are scarce data describing outcomes of pediatric temporary ventricular assist device support.

Methods: A retrospective single-center study was conducted to review clinical outcomes of all consecutive patients with temporary ventricular assist device between 1996 and 2021. Given the complex clinical course in some patients requiring multiple temporary ventricular assist device runs, outcome analysis was based on "encounters" (hospitalizations with temporary ventricular assist device, regardless of the number of devices used).

Results: In total, 126 temporary ventricular assist devices were implanted in 108 patients, resulting in a total of 114 encounters: 70 (61%) extracorporeal centrifugal pumps and 44 (39%) …

Ceramide Compensation By Ceramide Synthases Preserves Retinal Function And Structure In A Retinal Dystrophy Mouse Model, Xinye Qian, Tanmay Srinivasan, Jessica He, Jiaxiong Lu, Yan Jin, Haiwei Gu, Rui Chen

Faculty, Staff and Students Publications

Increasing evidence has supported the role of ceramide as a mediator of photoreceptor dysfunction or cell death in ceramide accumulation and deficiency contexts. TLCD3B, a non-canonical ceramide synthase, was previously identified in addition to the six canonical ceramide synthases (CerSs), and the Tlcd3b-/- mouse model exhibited both retinal dysfunction and degeneration. As previous canonical CerS-deficient mouse models failed to display retinal degeneration, the mechanisms of how TLCD3B interacts with CerSs have not been investigated. Additionally, as the ceramide profile of each CerS is distinct, it is unclear whether the overall level or the homeostasis of different ceramide species plays a …

It Is Time For A Paradigm Shift In Design, Execution, And Publishing Of Comparative Helicobacter Pylori Treatment Trials, David Y Graham

Faculty, Staff and Students Publications

No abstract provided.

The Systemic Availability Of Indispensable Amino Acids From Orally Ingested Algal And Legume Protein In Young Children At Risk Of Environmental Enteric Dysfunction, Nirupama Shivakumar, Sindhu Kashyap, Farook Jahoor, Sarita Devi, Thomas Preston, Tinku Thomas, Anura V Kurpad

Faculty, Staff and Students Publications

Background: The digestion and absorption of ingested protein may be reduced in children with environmental enteric dysfunction (EED), reducing systemic amino acid availability for protein synthesis with resultant growth faltering. This has not been directly measured in children with EED and associated growth faltering.

Objectives: To evaluate the systemic availability of algal (spirulina) and legume (mung bean) indispensable amino acids (IAAs) in children with EED.

Methods: Indian children (18-24 mo) from urban slums were assigned to EED (n = 24) or no-EED (control, n = 17) groups based on the lactulose rhamnose test, where the lactulose rhamnose ratio cutoff for …

Characterizing The Influence Of Exposure To Military Sexual Trauma And Intimate Partner Violence On Mental Health Outcomes Among Female Veterans, Carrie Esopenko, Nicola De Souza, Elisabeth A Wilde, Kristen Dams-O'Connor, Ellen Teng, Deleene S Menefee

Faculty, Staff and Students Publications

Military sexual trauma (MST) has deleterious long-term psychological consequences. Among female U.S. military members, MST is associated with increased risk for future interpersonal victimization, such as experiencing intimate partner violence (IPV). Few studies have investigated the implications of the cumulative effects of IPV and MST on psychological functioning. This study examined rates of co-exposure to MST, IPV, and their cumulative impact on psychological symptoms. Data were collected from 308 female Veterans (FVets; age:

Fkbp5 Inhibitors Modulate Alcohol Drinking And Trauma-Related Behaviors In A Model Of Comorbid Post-Traumatic Stress And Alcohol Use Disorder, Bryan Cruz, Valentina Vozella, Benjamin A Carper, Joy C Xu, Dean Kirson, Shawn Hirsch, Tracy Nolen, Lauren Bradley, Katie Fain, Meg Crawford, Thomas R Kosten, Eric P Zorrilla, Marisa Roberto

Faculty, Staff and Students Publications

Post-traumatic stress disorder (PTSD) leads to enhanced alcohol drinking and development of alcohol use disorder (AUD). Identifying shared neural mechanisms might help discover new therapies for PTSD/AUD. Here, we employed a rat model of comorbid PTSD/AUD to evaluate compounds that inhibit FK506-binding protein 51 (FKBP5), a co-chaperone modulator of glucocorticoid receptors implicated in stress-related disorders. Male and female rats received a familiar avoidance-based shock stress followed by voluntary alcohol drinking. We then assessed trauma-related behaviors through sleep bout cycles, hyperarousal, fear overgeneralization, and irritability. To evaluate the role of stress and alcohol history on the sensitivity to FKBP5 inhibitors, in …

Five New Ways To Advance Diagnostic Safety In Your Clinical Practice, Andrea Bradford, Christine Goeschel, Marjorie Shofer, Hardeep Singh

Faculty, Staff and Students Publications

No abstract provided.

Achieving Equity In Emergency Medicine Quality Measures Requires A Sex And Gender Lens, Ynhi T Thomas, Angela F Jarman, Nina G Faynshtayn, Greg B Buehler, Sara Andrabi, Alyson J Mcgregor

Faculty, Staff and Students Publications

BACKGROUND: Quality measures within Emergency Medicine (EM) were developed to standardize and improve care. Their development has been limited by lack of consideration of sex- and gender-based differences. Research has suggested that sex and gender can impact clinical care and treatment. Inclusion of sex and gender differences is needed to create EM quality measures that are equitable to all.

OBJECTIVE: The aim of the review is to provide a brief history of EM quality measures and the value of considering sex- and gender-based evidence in their development to ensure equity, using acute myocardial infarction (AMI) as an example.

DISCUSSION: Current …

The Association Of Academic Cosmetic Dermatology: Improving Cosmetic Dermatology Education Through Collaboration, Research, And Advocacy, Kira Minkis, Diana Bolotin, M Laurin Council, Anna Bar, Ronda S Farah, Nour Kibbi, Rachel Y N Miest, Jeffrey S Orringer, Arisa Ortiz, Kathleen C Suozzi, Neelam A Vashi, Simon S Yoo, Joerg Albrecht, Travis W Blalock, Alison J Bruce, Min Deng, Shraddha Desai, Milad Eshaq, Lori A Fiessinger, Erica Ghareeb, Tanya Greywal, Adelaide A Hebert, Deirdre Hooper, Maria Hordinsky, Jenny C Hu, Atieh Jibbe, Jayne Joo, Kristen M Kelly, Sonya Kenkare, Shilpi Khetarpal, Lauren C S Kole, A Shadi Kourosh, Helena Kuhn, Kachiu C Lee, Roberta Lucas, Janiene Luke, Mariam Mafee, Tiffany T Mayo, Zeena Y Nawas, Edit B Olasz Harken, Michelle V Pearlstein, Vesna Petronic-Rosic, Carolyn A Robinson, Megan N Rogge, Dana L Sachs, Sami K Saikaly, Olivia L Schenck, Cynthia A Schlick, Ladan Shahabi, Desmond M Shipp, Melissa Shive, Sirunya Silapunt, Amanda K Suggs, Leila Tolaymat, Kimberley H M Ward, Mara Weinstein Velez, Joshua Zeichner, Bianca Y Kang, Sarah A Ibrahim, Rachel E Christensen, Noor Anvery, Mckenzie A Dirr, Naomi Lawrence, Murad Alam

Faculty, Staff and Students Publications

Cosmetic and laser procedures are increasingly popular among patients and are skills in which dermatologists are regarded as well trained. Most dermatology residents intend to incorporate cosmetic procedures into their practice and prefer to learn such procedures during residency through direct patient care. However, there are notable challenges in optimizing how residents are trained in cosmetic and laser dermatology. To address these barriers and elevate the practice of cosmetic dermatology in academic medicine, the Association of Academic Cosmetic Dermatology (AACD) was founded in 2021 as the lead professional society for dermatologists who direct the education of resident trainees in cosmetic …

Posttransplant Outcomes For Alcohol-Associated Liver Disease During The Covid-19 Pandemic, Karthik Goli, Peter Lymberopoulos, Ronald Samuel, Anjiya Shaikh, Nisha Parakadavil, Donghee Kim, Aijaz Ahmed, John A Goss, Abbas Rana, Tzu-Hao Lee, Fasiha Kanwal, George Cholankeril

Faculty, Staff and Students Publications

No abstract provided.

Generation Of Humanized Ldhc Knock-In Mice As A Tool To Assess Human Ldhc-Targeting Contraceptive Drugs, Rie Iida-Norita, Haruhiko Miyata, Yuki Kaneda, Chihiro Emori, Taichi Noda, Tatsuya Nakagawa, Martin M Matzuk, Masahito Ikawa

Faculty, Staff and Students Publications

Background: Lactate dehydrogenase C (LDHC) is specifically expressed in male germ cells and plays critical roles in glycolysis. Glycolysis is required to supply energy for sperm motility. Previous studies showed that Ldhc knock-out mice exhibit impaired sperm motility.

Objectives: We established human LDHC knock-in (hLDHC KI) mice and examined whether hLDHC KI mice can be used to assess LDHC-targeting drugs.

Material and methods: HLDHC was knocked-in to the mouse Ldhc (mLdhc) allele using the CRISPR/Cas9 system. Mating tests, sperm motility examinations with a computer-assisted sperm analysis (CASA) system, and in vitro fertilization (IVF) were performed. Furthermore, the effect of an …

Exploring The Role Of Vitamin D And The Gut Microbiome: A Cross-Sectional Study Of Individuals With Irritable Bowel Syndrome And Healthy Controls, Sarah W Matthews, Anna Plantinga, Robert Burr, Kevin C Cain, Tor Savidge, Kendra Kamp, Margaret M Heitkemper

Faculty, Staff and Students Publications

Irritable bowel syndrome (IBS) is a common disorder of gut-brain interaction with multifaceted pathophysiology. Prior studies have demonstrated higher rates of vitamin D deficiency in individuals with IBS compared to healthy controls (HC), as well as associations of vitamin D concentration with IBS symptoms. A systematic review of 10 mouse and 14 human studies reported a positive association between vitamin D (serum levels and supplementation) and beta diversity of gut microbiome in a variety of conditions. The present retrospective case-control study aimed to compare vitamin D (25(OH)D) plasma concentrations and gut microbiome composition in adult women with IBS (n=99) and …

Outside Looking In, Alec B Rezigh, Austin Rezigh, Zahir Kanjee, Zaven Sargsyan, Stephanie Sherman, Ann M Kumfer

Faculty, Staff and Students Publications

No abstract provided.

Disseminating Child Abuse Clinical Decision Support Among Commercial Electronic Health Records: Effects On Clinical Practice, David A Feldstein, Isabel Barata, Thomas Mcginn, Emily Heineman, Joshua Ross, Dana Kaplan, Francesca Bullaro, Sundas Khan, Nicholas Kuehnel, Rachel P Berger

Faculty, Staff and Students Publications

Objectives: The use of electronic health record (EHR)-embedded child abuse clinical decision support (CA-CDS) may help decrease morbidity from child maltreatment. We previously reported on the development of CA-CDS in Epic and Allscripts. The objective of this study was to implement CA-CDS into Epic and Allscripts and determine its effects on identification, evaluation, and reporting of suspected child maltreatment.

Materials and methods: After a preimplementation period, CA-CDS was implemented at University of Wisconsin (Epic) and Northwell Health (Allscripts). Providers were surveyed before the go-live and 4 months later. Outcomes included the proportion of children who triggered the CA-CDS system, had …

Measurement Of Fatigue In Patients Receiving Kidney Replacement Therapy, Melandrea L Worsley, Akshta Pai, L Parker Gregg

Faculty, Staff and Students Publications

No abstract provided.

Testis-Specific Serine Kinase 3 Is Required For Sperm Morphogenesis And Male Fertility, Kaori Nozawa, Thomas X Garcia, Katarzyna Kent, Mei Leng, Antrix Jain, Anna Malovannaya, Fei Yuan, Zhifeng Yu, Masahito Ikawa, Martin M Matzuk

Faculty, Staff and Students Publications

BACKGROUND: The importance of phosphorylation in sperm during spermatogenesis has not been pursued extensively. Testis-specific serine kinase 3 (Tssk3) is a conserved gene, but TSSK3 kinase functions and phosphorylation substrates of TSSK3 are not known.

OBJECTIVE: The goals of our studies were to understand the mechanism of action of TSSK3.

MATERIALS AND METHODS: We analyzed the localization of TSSK3 in sperm, used CRISPR/Cas9 to generate Tssk3 knockout (KO) mice in which nearly all of the Tssk3 open reading frame was deleted (ensuring it is a null mutation), analyzed the fertility of Tssk3 KO mice by breeding mice for 4 months, …

Longitudinal Analysis Of The Evolution Of Cellular Immunity To Sars-Cov-2 Induced By Infection And Vaccination, Spyridoula Vasileiou, Manik Kuvalekar, Yovana Velazquez, Ayumi Watanabe, Mansi Narula, Aster G Workineh, Matthew French-Kim, Alejandro Torres Chavez, Sarah Gilmore, Cliona M Rooney, Ann M Leen

Faculty, Staff and Students Publications

No abstract provided.

Vincristine/Irinotecan/Temsirolimus Upfront Window Treatment Of High-Risk Hepatoblastoma: A Report From The Children’S Oncology Group Ahep0731 Study Committee, Patrick A Thompson, Marcio H Malogolowkin, Wayne L Furman, Jin Piao, Mark D Krailo, Nadia Chung, Lindsay Brock, Alexander J Towbin, Elizabeth B Mccarville, Milton J Finegold, Sarangarajan Ranganathan, Stephen P Dunn, Max R Langham, Eugene D Mcgahren, Gregory M Tiao, Christopher B Weldon, Allison F O'Neill, Carlos Rodriguez-Galindo, Rebecka L Meyers, Howard M Katzenstein

Faculty, Staff and Students Publications

Background: Survival for children with metastatic hepatoblastoma (HB) remains suboptimal. We report the response rate and outcome of two courses of vincristine/irinotecan/temsirolimus (VIT) in children with high-risk (HR)/metastatic HB.

Procedures: Patients with newly diagnosed HB received HR window chemotherapy if they had metastatic disease or a serum alpha-fetoprotein (AFP) level less than 100 ng/mL. Patients received vincristine (days 1 and 8), irinotecan (days 1-5), and temsirolimus (days 1 and 8). Cycles were repeated every 21 days. Responders had either a 30% decrease using RECIST (Response Evaluation Criteria in Solid Tumors) criteria OR a 90% (>1 log10 decline) AFP decline …

Prevalence Of Ddc Genotypes In Patients With Aromatic L-Amino Acid Decarboxylase (Aadc) Deficiency And In Silico Prediction Of Structural Protein Changes, Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua Bao, Fahad A Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin-Hsiu Chien, Yew Sing Choy, Sarah H Elsea, Lisa Flint, Àngels García-Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H Hamad, Burcu Hişmi, Tomas Honzik, Oya Kuseyri Hübschmann, Wuh-Liang Hwu, Salvador Ibáñez-Micó, Kathrin Jeltsch, Natalia Juliá-Palacios, Çiğdem Seher Kasapkara, Manju A Kurian, Katarzyna Kusmierska, Ning Liu, Lock Hock Ngu, John D Odom, Winnie Peitee Ong, Thomas Opladen, Mari Oppeboen, Phillip L Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut-Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, Jiri Zeman, Nenad Blau

Faculty, Staff and Students Publications

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, …

Advancing Asms With Lc-Ms/Ms For The Discovery Of Novel Pdcl2 Ligands From Dna-Encoded Chemical Library Selections, Qiuji Ye, Hassane Belabed, Yong Wang, Zhifeng Yu, Murugesan Palaniappan, Jian-Yuan Li, Stacey A Kalovidouris, Kevin R Mackenzie, Mingxing Teng, Damian W Young, Yoshitaka Fujihara, Martin M Matzuk

Faculty, Staff and Students Publications

BACKGROUND: A safe, effective, and reversible nonhormonal male contraceptive drug is greatly needed for male contraception as well as for circumventing the side effects of female hormonal contraceptives. Phosducin-like 2 (PDCL2) is a testis-specific phosphoprotein in mice and humans. We recently found that male PDCL2 knockout mice are sterile due to globozoospermia caused by impaired sperm head formation, indicating that PDCL2 is a potential target for male contraception. Herein, our study for the first time developed a biophysical assay for PDCL2 allowing us to screen a series of small molecules, to study structure-activity relationships, and to discover two PDCL2 binders …

Prematurity Blunts Protein Synthesis In Skeletal Muscle Independently Of Body Weight In Neonatal Pigs, Marko Rudar, Jane K Naberhuis, Agus Suryawan, Hanh V Nguyen, Marta L Fiorotto, Teresa A Davis

Faculty, Staff and Students Publications

Background

Postnatal growth failure in premature infants is associated with reduced lean mass accretion. Prematurity impairs the feeding-induced stimulation of translation initiation and protein synthesis in the skeletal muscle of neonatal pigs. The objective was to determine whether body weight independently contributes to the blunted postprandial protein synthesis.

Methods

Preterm and term pigs that were either fasted or fed were stratified into quartiles according to birth weight to yield preterm and term groups of similar body weight; first and second quartiles of preterm pigs and third and fourth quartiles of term pigs were compared (preterm-fasted, n = 23; preterm-fed, n …