keyword
https://read.qxmd.com/read/38431799/improving-access-to-exome-sequencing-in-a-medically-underserved-population-through-the-texome-project
#21
JOURNAL ARTICLE
Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott McLean, Carrie Schmid, Morgan Nutter, Melissa Stuebben, Emily Magness, Olivia Juarez, Dina El Achi, Bailey Mitchell, Kevin E Glinton, Laurie Robak, Sandesh Cs Nagamani, Lisa Saba, Adasia Ritenour, Lilei Zhang, Haley Streff, Katie Chan, K Jordan Kemere, Kent Carter, Nichole Owen, Liesbeth Vossaert, Pengfei Liu, Hugo Bellen, Michael Wangler
PURPOSE: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing. METHODS: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project...
February 28, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38427023/minimalist-tetrazine-n-acetyl-muramic-acid-probes-for-rapid-and-efficient-labeling-of-commensal-and-pathogenic-peptidoglycans-in-living-bacterial-culture-and-during-macrophage-invasion
#22
JOURNAL ARTICLE
Ashlyn S Hillman, Stephen N Hyland, Kimberly A Wodzanowski, DeVonte L Moore, Sushanta Ratna, Andrew Jemas, Liam-Michael D Sandles, Timothy Chaya, Arit Ghosh, Joseph M Fox, Catherine L Grimes
N -Acetyl muramic acid (NAM) probes containing alkyne or azide groups are commonly used to investigate aspects of cell wall synthesis because of their small size and ability to incorporate into bacterial peptidoglycan (PG). However, copper-catalyzed alkyne-azide cycloaddition (CuAAC) reactions are not compatible with live cells, and strain-promoted alkyne-azide cycloaddition (SPAAC) reaction rates are modest and, therefore, not as desirable for tracking the temporal alterations of bacterial cell growth, remodeling, and division...
March 1, 2024: Journal of the American Chemical Society
https://read.qxmd.com/read/38422636/unraveling-the-effects-of-drying-techniques-on-chaya-leaves-metabolomics-analysis-of-nonvolatile-and-volatile-metabolites-umami-taste-and-antioxidant-capacity
#23
JOURNAL ARTICLE
Nuti Hutasingh, Apinya Tubtimrattana, Pornkanok Pongpamorn, Putthamas Pewlong, Atchara Paemanee, Nat Tansrisawad, Ubonrat Siripatrawan, Supaart Sirikantaramas
Chaya (Cnidoscolus chayamansa) leaves are known for their strong umami taste and widespread use as a dried seasoning. This study aimed to assess the impact of different drying methods [freeze drying (FD), vacuum drying, oven drying at 50 °C and 120 °C (OD120) and pan roasting (PR)] on the metabolome using mass spectrometry, umami intensity, and antioxidant properties of chaya leaves. The predominant volatile compound among all samples, 3-methylbutanal, exhibited the highest relative odor activity value (rOAV), imparting a malt-like odor, while hexanal (green grass-like odor) and 2-methylbutanal (coffee-like odor) are the second highest rOAV in the FD and PR samples, respectively...
February 17, 2024: Food Chemistry
https://read.qxmd.com/read/38419392/clinical-trials-studying-suicide-risk-reduction-who-is-excluded-from-participation
#24
JOURNAL ARTICLE
Ryan E Lawrence, Chaya Jaffe, Yinjun Zhao, Yuanjia Wang, Terry E Goldberg
OBJECTIVE: The use of exclusion criteria in clinical trials can cause research participants to differ markedly from clinical populations, which negatively impacts generalizability of results. This study identifies and quantifies common and recurring exclusion criteria in clinical trials studying suicide risk reduction, and estimates their impact on eligibility among a clinical sample of adults in an emergency department with high suicide risk. METHOD: Recent trials were identified by searching PubMed (terms suicide, efficacy, effectiveness, limited to clinical trials in prior 5 years)...
February 28, 2024: Archives of Suicide Research: Official Journal of the International Academy for Suicide Research
https://read.qxmd.com/read/38417881/identification-of-familial-infections-using-multilocus-microsatellite-typing-in-tinea-corporis-due-to-microsporum-canis
#25
JOURNAL ARTICLE
Chiaki Takahashi, Ryohei Asakura, Ayaka Chaya, Michi Ota, Kazutoshi Harada, Tatsuya Inukai, Shigeki Nakamura, Yasuki Hata, Emiko Watanabe-Okada
Microsporum canis is a type of dermatophyte that causes zoonotic dermatophytosis in cats and dogs. We report three cases of tinea corporis due to M. canis from a single household with a domestic cat as a pet. The cases included a woman in her thirties (mother), a girl in her teens (older sister), and a girl in her teens (younger sister). Following sudden hair loss in the domestic cat, annular erythema with pruritus and scales appeared on the face, neck, and limbs of the older sister, younger sister, and mother, sequentially; they subsequently visited our hospital...
2024: Medical Mycology Journal
https://read.qxmd.com/read/38405817/biallelic-variation-in-the-choline-and-ethanolamine-transporter-flvcr1-underlies-a-pleiotropic-disease-spectrum-from-adult-neurodegeneration-to-severe-developmental-disorders
#26
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R Lupski, Long Nam Nguyen
FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic FLVCR1 variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system...
February 13, 2024: medRxiv
https://read.qxmd.com/read/38353397/impact-of-initial-high-flow-nasal-cannula-flow-rates-on-clinical-outcomes-in-children-with-bronchiolitis
#27
JOURNAL ARTICLE
Nirupama Kannikeswaran, Robert R Ehrman, Priya Spencer, Chaya Pitman-Hunt, Jacqueline Leja, Karima Lelak, Rajan Arora, Amy Delaroche
PURPOSE: Our aim was to evaluate the impact of the initial high flow nasal cannula (HFNC) flow rate on clinical outcomes in children with bronchiolitis. METHODS: This secondary analysis of retrospective data included children <2 years who required HFNC for bronchiolitis between 10/01/2018-04/20/2019, and following implementation of a revised institutional bronchiolitis pathway between 10/01/2021-04/30/2022. The new pathway recommended weight-based initiation of HFNC at 1...
February 14, 2024: Pediatric Pulmonology
https://read.qxmd.com/read/38305992/ovarian-suppression-early-menopause-late-effects
#28
REVIEW
Chaya Goldberg, Megan R Greenberg, Alexandra Noveihed, Laila Agrawal, Coral Omene, Deborah Toppmeyer, Mridula A George
PURPOSE OF REVIEW: Pre-menopausal women diagnosed with hormone receptor (HR) breast cancer are candidates for prolonged hypoestrogenism to improve cancer outcomes. However, the disease benefit eclipses the toxicities associated with ovarian function suppression (OFS), which are often under-reported. RECENT FINDINGS: Increased risk of mortality from cardiovascular disease, bone disorders, and metabolic disorders is well reported in women with no history of cancer, after surgical oophorectomy or premature ovarian failure...
January 2, 2024: Current Oncology Reports
https://read.qxmd.com/read/38290904/prevalence-of-type-2-diabetes-among-tribal-population-of-india-a-multi-centric-cross-sectional-study
#29
JOURNAL ARTICLE
Bontha V Babu, Chaya R Hazarika, Sunil K Raina, Shariq R Masoodi, Yogish C Basappa, Nihal Thomas, Anna S Kerketta, Nanda Kumar Menon, Felix K Jebasingh
BACKGROUND: The perception among healthcare workers is that the Indian tribal (indigenous) population are less affected by diabetes. This paper reports the prevalence of type 2 diabetes and its associated factors among tribal populations from six districts across India. METHODOLOGY: Random blood glucose (RBG) and fasting blood glucose (FBG) were measured for 8486 and 3131 adults, respectively, with a glucose meter. FBG ≥ 126 mg/dL (7.0 mmol/L) and RBG ≥ 200 mg/dL (11...
January 29, 2024: Journal of the National Medical Association
https://read.qxmd.com/read/38285481/-correction-to-glycemic-index-and-glycemic-load-of-two-dishes-cooked-with-alache-anoda-cristata-and-chaya-cnidoscolus-aconitifolius-plants-from-the-traditional-mexican-diet-by-morales-guerrero-et-al-journal-of-medicinal-food-2023-26-6-416-421-doi-10-1089-jmf
#30
https://read.qxmd.com/read/38283408/localized-pseudomembranous-gastritis-associated-with-hepatic-cirrhosis-and-portal-hypertensive-gastropathy-a-case-report
#31
Pierre Tran, Rama Sai P, Chaya Prasad, Cyrus Parsa
Pseudomembranes in the large and small intestines are common in hospitalized patients that are immunosuppressed or on certain oral antibiotics. Pseudomembranous enterocolitis, histologically characterized by volcanic-like eruption of inflammatory cellular exudate from the mucosal surface, is mainly attributed to Clostridium difficile toxins and often presents with symptomatic diarrhea. Rarely, there are case reports of similar pseudomembranous lesions limited to the stomach in the absence of intestinal involvement...
January 2024: Journal of Surgical Case Reports
https://read.qxmd.com/read/38281305/psychosocial-outcomes-of-pain-and-pain-management-in-adults-with-osteogenesis-imperfecta-a-qualitative-study
#32
JOURNAL ARTICLE
Whitney S Shepherd, Andrew D Wiese, Hannah E Cho, W Conor Rork, M Usman Baig, Kristin M Kostick, Dianne Nguyen, Erin M Carter, Chaya N Murali, Marie-Eve Robinson, Sophie C Schneider, Brendan Lee, V Reid Sutton, Eric A Storch
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures, short stature, dental abnormalities, hearing loss, scoliosis, and chronic pain. Despite a growing literature on the functional outcomes of OI, limited research has explicitly examined the psychosocial outcomes of pain within OI. Adults with OI (N = 15) were interviewed to understand pain-related experiences through a thematic analysis of semi-structured interview data. Research team members, genetic research experts, and OI clinicians developed an interview guide focused on topics related to pain and mental health challenges...
January 28, 2024: Journal of Clinical Psychology in Medical Settings
https://read.qxmd.com/read/38268713/incorporating-trauma-informed-approaches-to-care-in-vascularized-composite-allotransplantation
#33
JOURNAL ARTICLE
Erika Thys, Matteo Laspro, Bachar F Chaya, Eduardo D Rodriguez, Laura L Kimberly
Since 1998, vascularized composite allotransplantation (VCA) has been a growing area of research in the field of reconstructive surgery. Although conditions treated with VCA often result from a traumatic injury, there has been limited emphasis on incorporating trauma-informed care (TIC) models in VCA. Considering the importance of psychosocial well-being in VCA candidates and recipients, applying best practices in TIC to the face, upper extremity, and penile transplantation may be critical in minimizing retraumatization throughout the perioperative process...
January 2024: Plastic and Reconstructive Surgery. Global Open
https://read.qxmd.com/read/38224687/relapsing-polychondritis-with-tracheobronchial-involvement-a-detailed-description-of-two-pediatric-cases-and-review-of-the-literature
#34
JOURNAL ARTICLE
Greta Winter, Tara Löffelmann, Shaakira Chaya, Hannah Kaiser, Nils Kristian Prenzler, Athanasia Warnecke, Martin Wetzke, Thorsten Derlin, Diane Renz, Thomas Stueber, Florian Länger, Katharina Schütz, Nicolaus Schwerk
Relapsing polychondritis (RP) is a rare immune-mediated disease that primarily affects the cartilaginous structures of the ears, nose and airways. The clinical spectrum ranges from mild to severe disease characterized by progressive destruction of cartilage in the tracheobronchial tree leading to airway obstruction and acute respiratory failure. Early diagnosis is crucial to prevent irreversible airway damage and life-threatening complications. Due to its rarity and variability of symptoms, the diagnosis of RP is often delayed particularly in childhood...
January 15, 2024: Klinische Pädiatrie
https://read.qxmd.com/read/38201359/the-assessment-of-serum-fibronectin-levels-as-a-potential-biomarker-for-the-severity-of-drug-sensitive-pulmonary-tuberculosis-a-pilot-study
#35
JOURNAL ARTICLE
Shreedhar Kulkarni, Sumalatha Arunachala, Sindaghatta Krishnarao Chaya, Rekha Vaddarahalli ShankaraSetty, Medha Karnik, Nidhi Bansal, Sukanya Ravindran, Komarla Sundararaja Lokesh, Mikash Mohan, Mohammed Kaleem Ullah, Jayaraj Biligere Siddaiah, Padukudru Anand Mahesh
BACKGROUND: Tuberculosis (TB) is a global health burden caused by Mycobacterium tuberculosis (Mtb) infection. Fibronectin (Fn) facilitates Mtb attachment to host cells. We studied the Fn levels in smear-positive TB patients to assess its correlation with disease severity based on sputum smears and chest X-rays. METHODS: Newly detected consecutive sputum AFB-positive pulmonary TB patients ( n = 78) and healthy control subjects ( n = 11) were included. The mycobacterial load in the sputum smear was assessed by IUATLD classification, ranging from 0 to 3...
December 25, 2023: Diagnostics
https://read.qxmd.com/read/38181210/first-in-human-whole-eye-transplantation-ensuring-an-ethical-approach-to-surgical-innovation
#36
JOURNAL ARTICLE
Matteo Laspro, Erika Thys, Bachar Chaya, Eduardo D Rodriguez, Laura L Kimberly
As innovations in the field of vascular composite allotransplantation (VCA) progress, whole-eye transplantation (WET) is poised to transition from non-human mammalian models to living human recipients. Present treatment options for vision loss are generally considered suboptimal, and attendant concerns ranging from aesthetics and prosthesis maintenance to social stigma may be mitigated by WET. Potential benefits to WET recipients may also include partial vision restoration, psychosocial benefits related to identity and social integration, improvements in physical comfort and function, and reduced surgical risk associated with a biologic eye compared to a prosthesis...
January 5, 2024: American Journal of Bioethics: AJOB
https://read.qxmd.com/read/38165915/micropulse-cyclophotocoagulation-compared-to-continuous-wave-cyclophotocoagulation-for-the-management-of-refractory-pediatric-glaucoma
#37
JOURNAL ARTICLE
Bo Wang, Ryan T Wallace, John A Musser, Craig J Chaya, Courtney L Kraus
INTRODUCTION: Micropulse cyclophotocoagulation (MPCPC) has been shown in adults to offer a favorable post-operative safety profile compared to continuous wave transscleral cyclophotocoagulation (CWCPC) in the management of glaucoma. The purpose of this study is to evaluate the long term efficacy, safety, and effectiveness of MPCPC in the management of pediatric glaucoma when compared to CWCPC. METHODS: IRB approved retrospective chart review of patients with pediatric glaucoma that underwent MPCPC and CWCPC at 2 separate institutions...
2024: PloS One
https://read.qxmd.com/read/38158269/bronchiolitis-trends-in-out-of-hospital-urgent-care-services-in-the-community-of-madrid-observational-study-2016-2023
#38
JOURNAL ARTICLE
Cristina Horrillo-García, Laura Sánchez García, Ana María Cintora-Sanz, Manuel José González-León, Carolina Chaya-Romero, Victor Quesada-Cubo, Joaquín Antonio Rendo-Murillo
INTRODUCTION: Bronchiolitis poses a considerable challenge during its seasonal peak, overwhelming the material and human resources available to care for affected patients. As a result, interhospital transfers increase exponentially. We did not find any studies analysing the characteristics of patients with bronchiolitis managed in out-of-hospital urgent care (OHUC) services and the impact of the COVID-19 pandemic on the epidemiology of bronchiolitis. OBJECTIVE: To establish the characteristics of paediatric and neonatal patients with acute bronchiolitis (AB) managed in OHUC services in the Community of Madrid and to analyse the impact of the COVID-19 pandemic on the epidemiology of bronchiolitis...
December 28, 2023: Anales de pediatría
https://read.qxmd.com/read/38145076/long-term-burden-of-war-injuries-among-civilians-in-lmics-case-of-the-july-2006-war-in-lebanon
#39
JOURNAL ARTICLE
Elsa Kobeissi, Marilyne Menassa, Gladys Honein-AbouHaidar, Nassim El Achi, Zahi Abdul-Sater, Theresa Farhat, Dalia Al Mohtar, Marwan Hajjar, Rima A Abdul-Khalek, Bachar F Chaya, Ahmad Elamine, Shehan Hettiaratchy, Ghassan Abu-Sittah
INTRODUCTION: Lebanon, a country located on the eastern shore of the Mediterranean Sea, is one of the world's smaller sovereign states. In the past few decades, Lebanon endured a perpetual political turmoil and several armed conflicts. July 12, 2006, marked the start of a one-month war in Lebanon, which resulted in thousands of casualties. Little is known about the long-term consequences of war injuries inflicted on civilians during the July 2006 war. METHODS: The objectives of this paper were to identify and evaluate: 1- civilians' access to healthcare and medicine under conditions of war; 2- the long-term socioeconomic burden on injured civilians; and 3- their quality of life more than a decade post-war...
2023: Frontiers in Public Health
https://read.qxmd.com/read/38144072/characterization-antioxidant-and-antimicrobial-properties-of-mulberry-lattices
#40
JOURNAL ARTICLE
Venkatesh Kumar R, Sunil Babu Gosipatala, Ram Kumar, Devika Srivastava, Vandana Singh, Kusumala Suman, Deepak Kumar Tripathi, Abhishek Verma, Akash Mishra, Karan Kumar Vishwakarma, Stuti Annapurna Singh, Tripti Pandey, Sanskrati Agarwal, Mohd Elyies, Ishani Singh, Pinky Kumari Sah, Chaya Sharma, Rishabh Parag, Pragya Saxena, Akanksha Raj, Anshika Tripathi, Poonam Devi, Krishna Mohan Poluri
In order to find the most advantageous bioactive compounds from mulberry latex for drug development in the near future, this study was conducted to characterize and evaluate antioxidant and antimicrobial properties from four different mulberry lattices (BR-2, S-1, AR-14, and S-146). The characterization of the lattices was performed by scanning electron microscopy with energy-dispersive X-ray spectroscopy, gas chromatography coupled to mass spectroscopy, and Fourier transform infrared spectroscopy. Further, screenings of the antioxidant and antimicrobial potential of selected lattices were performed in vitro using 2,2-diphenyl-1-picrylhydrazyl assay and agar well diffusion methods, respectively...
December 19, 2023: ACS Omega
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