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Sara Rossi, Federica Volpi, Roberto Castellana, Roberta Pancani, Federico Dente, Roberta Gaeta, Laura Carrozzi, Emanuele Neri, Chiara Romei
Mounier-Kuhn syndrome is a rare airway disease characterized by tracheal and bronchial dilatation, primarily affecting middle-aged men. We present a case of Mounier-Kuhn syndrome in a 40-year-old man with a history of recurrent respiratory infections since adolescence. The diagnostic journey involved a multidisciplinary approach incorporating clinical evaluation, radiological imaging, and bronchoscopy. Computed tomography findings, including maximum intensity projection reconstructions and 3D rendering, facilitated the diagnosis by revealing significant airway dilation and associated abnormalities...
June 2024: Radiology Case Reports
#2
JOURNAL ARTICLE
Zhaohui Cai, Raj Kalkeri, Mingzhu Zhu, Shane Cloney-Clark, Benjamin Haner, Mi Wang, Bahar Osman, Dominic Dent, Sheau-Line Feng, Zach Longacre, Greg Glenn, Joyce S Plested
Neutralizing antibody responses from COVID-19 vaccines are pivotal in conferring protection against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Effective COVID-19 vaccines and assays measuring neutralizing antibodies against emerging variants (i.e., XBB.1.5, XBB.1.16, and XBB.2.3) are needed. The use of biosafety level (BSL)-3 laboratories for live virus assays results in higher costs and a longer turnaround time; therefore, a BSL-2-based pseudovirus neutralization assay (PNT) was developed...
February 29, 2024: Microorganisms
#3
JOURNAL ARTICLE
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females). The identified BGN variants were shown to lead to loss-of-function by cDNA and Western Blot analyses of skin fibroblasts or were strongly predicted to lead to loss-of-function based on the nature of the variant...
March 26, 2024: NPJ Genomic Medicine
#4
JOURNAL ARTICLE
Andrew S Poklepovic, Sarah W Gordon, Sejal Kothadia, William P McGuire, Leroy R Thacker, Xiaoyan Deng, Mary Beth Tombes, Ellen Shrader, Daniel Hudson, Dipankar Bandyopadhyay, Alison A Ryan, Maciej Kmieciak, Steven Smith, Paul Dent
The purpose of this study is to establish the recommended phase 2 dose for regorafenib in combination with sildenafil for patients with advanced solid tumors. Secondary outcomes included identification of antitumor effects of regorafenib and sildenafil, toxicity of the combination, determination of PDE5 expression in tumor samples, and the impact of sildenafil on the pharmacokinetics of regorafenib. This study was a phase 1, open-label single-arm dose-escalation trial using a 3 + 3 design. Additional patients were enrolled at the maximum tolerated dose (MTD) until a total of 12 patients were treated at the MTD...
June 1, 2024: Anti-cancer Drugs
#5
JOURNAL ARTICLE
Ashley Redding, Viktoryia A Kalesnikava, Rachel Bergmans, Stephen Redding, Kallisse Dent, Briana Mezuk
BACKGROUND: Chronic pain is an established risk factor for suicide. Pain syndromes are complex to diagnose, particularly in cases with limited evidence of injury or pathology. The goal of this study is to assess whether pain of unknown origin (i.e., medically-unexplained pain, MUEP) is more strongly associated with suicide behaviors than pain with a diagnostic explanation. METHODS: Data comes from the National Comorbidity Survey-Replication, a nationally-representative sample of US adults...
January 23, 2024: Journal of Affective Disorders
#6
JOURNAL ARTICLE
Nishi Grover, Danish Uz Zama Khan, Jitendra Bhagchandani, Sonali Saha, Kavita Dhinsa, Saumya Navit
INTRODUCTION: The present study was done to determine the size of the sella turcica in different skeletal type subjects and to evaluate if any significant difference exists between them, which could be the basis for early diagnosis. MATERIALS AND METHODS: A total of 60 lateral cephalograms of patients above 15 years of age were selected and distributed according to skeletal malocclusion into class I ( n = 20), class II ( n = 20), and 20 class III ( n = 20). Syndromic patients (physically/mentally/both) or patients with major illnesses were not included...
November 2023: International Journal of Clinical Pediatric Dentistry
#7
Atul Sharma, Anurag Chhabra, Isha Sharma, Suma Sogi, Pooja Sehrawat
AIM: The aim of this article is to report a case of multiple radicular cysts in an 8-year-old. BACKGROUND: Multiple radicular cysts are an uncommon and rare entity in mixed dentition. Management of these cysts needs careful examination of the present deciduous and erupting permanent dentition. Here, we present a case of multiple radicular cysts in an 8-year-old with no other significant medical history. The treatment approach included removal of the involved deciduous teeth and enucleation of cysts, followed by curettage and the use of Whitehead's varnish...
November 2023: International Journal of Clinical Pediatric Dentistry
#8
Jun Hyo Lee, Jiwon Lee, Dae Hun Suh
Lowe syndrome (LS), also known as oculocerebrorenal syndrome, is an X-linked multisystemic disorder caused by mutations in OCRL1 , which encodes a member of the inositol-5-phosphatase family. As implied by its name, congenital cataracts, defects in the central nervous system, and renal manifestations are the main symptoms. Early hidradenitis suppurativa (HS) occurrence in Dent disease 2 (DD2), which is a mild variant of LS and shares the OCRL1 gene mutation, has been reported, although not in LS patients. Here, we report a case of HS in a 17-year-old boy with genetically confirmed LS, which suggests that defects in the OCRL1 gene may contribute to HS pathogenesis...
November 2023: Annals of Dermatology
#9
JOURNAL ARTICLE
Limin Huang, Yingying Zhang, Haidong Fu, Weizhong Gu, Jianhua Mao
BACKGROUND: This study aimed to identify an orcl1 mutation in a patient with Dent-2 Disease and investigate the underlying mechanisms. METHODS: The ocrl1 mutation was identified through exome sequencing. Knockdown of orcl1 and overexpression of the orcl1 mutant were performed in HK-2 and MPC5 cells to study its function, while flow cytometry measured reactive oxygen species (ROS), phosphatidylserine levels, and cell apoptosis. Scanning electron microscopy observed crystal adhesion, while transmission electron microscopy examined kidney tissue pathology...
December 5, 2023: Cell Communication and Signaling: CCS
#10
JOURNAL ARTICLE
Philippe Gélisse, Pierre Genton, Arielle Crespel
BACKGROUND: In Dravet syndrome (DS), EEGs evolve over time. OBJECTIVE: To describe a peculiar EEG pattern in two adults with a de novo SCN1A gene mutation, in exon 5 (case 1) and 9 (case 2). METHODS: Two female patients underwent a prolonged video EEG (24 h) as part of their epilepsy assessment. RESULTS: In both cases, the EEG showed a very peculiar and stereotypical pattern of bilateral synchronous spikes at about 5-6 Hz...
January 2024: Seizure: the Journal of the British Epilepsy Association
#11
EDITORIAL
Vivek Agarwala, Arjun Ghosh, Avirup Guha, Purvish M Parikh, Susan Dent
No abstract text is available yet for this article.
2023: Frontiers in Oncology
#12
JOURNAL ARTICLE
Ben Chung-Lap Chan, Peiting Li, Miranda Sin-Man Tsang, Johnny Chun-Chau Sung, Keith Wai-Yeung Kwong, Tao Zheng, Sharon Sze-Man Hon, Ching-Po Lau, Ronald Chi-Yan Ho, Fang Chen, Clara Bik-San Lau, Ping-Chung Leung, Chun-Kwok Wong
The global pandemic of coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been developing all over the world for more than three years. In late 2020, several variants of concern (VOC) of SARS-CoV-2 virus emerged, with increased viral fitness and transmissibility by mutations of the spike proteins of the viral particle, denting hopes that the use of early-generation vaccines for a widespread protective immunity against viral infection. The use of adjuvant may enhance the immune responses of the conventional application of the COVID-19 vaccine...
September 15, 2023: Journal of Leukocyte Biology
#13
COMMENT
Kelvin I Afrashtehfar, Carlos A Jurado
ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: Moro JDS, Soares JP, Massignan C, Oliveira LB, Ribeiro DM, Cardoso M, Canto GL, Bolan M. Burnout syndrome among dentists: a systematic review and meta-analysis. J Evid Based Dent Pract. 2022 Sep;22(3):101,724. doi: 10.1016/j.jebdp.2022.101724. Epub 2022 Apr 2. PMID: 36162888 SOURCE OF FUNDING: University funds. TYPE OF STUDY/DESIGN: Systematic review with meta-analysis.
September 2023: Journal of Evidence-based Dental Practice
#14
Meenu Mittal, Ashok Kumar, Radhika Chopra, Prashant Tomar
UNLABELLED: Moebius syndrome (MBS) is a rare congenital nonprogressive neuromuscular disorder characterized by partial or complete, unilateral or bilateral paralysis of the facial (VII) and abducens (VI) cranial nerves (CNs). In this syndrome bilateral facial palsy may occur with the involvement of VII CN and impaired eye movements can be there because of the involvement of VI CN. It can also be associated with other CN palsies, orofacial anomalies, and limb defects. MBS is diagnosed exclusively on the basis of clinical criteria, although causative genetic patterns are being documented in recent studies...
August 2023: International Journal of Clinical Pediatric Dentistry
#15
REVIEW
Darryl P Leong, Filipe Cirne, Nazanin Aghel, Rocio C Baro Vila, Germano D Cavalli, Peter M Ellis, Jeff S Healey, Richard Whitlock, Dina Khalaf, Hira Mian, Sanjit S Jolly, Shamir R Mehta, Susan Dent
Invasive cardiac interventions are recommended to treat ST-segment elevation myocardial infarction, non-ST-segment elevation acute coronary syndromes, multivessel coronary disease, severe symptomatic aortic stenosis, and cardiomyopathy. These recommendations are based on randomized controlled trials that historically included few individuals with active, advanced malignancies. Advanced malignancies represent a significant competing risk for mortality, and there is limited evidence to inform the risks and benefits of invasive cardiac interventions in affected patients...
August 2023: JACC CardioOncology
#16
JOURNAL ARTICLE
Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Leire Madariaga
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to describe the different molecular findings in patients with a clinical diagnosis of classic BS. We included 27 patients (26 families) with no identified pathogenic variants in CLCNKB. We used a customized Ion AmpliSeq Next-Generation Sequencing panel including 44 genes related to renal tubulopathies...
August 3, 2023: Scientific Reports
#17
Madhanraj Selvaraj, Karthik Sennimalai, Vilas D Samrit, Ritu Duggal
UNLABELLED: Hypodontia is an inherited condition involving the absence of one to six teeth. The permanent dentition is the most frequently affected; however, it may also affect the primary dentition. A congenitally missing tooth (CMT) is the most common dental abnormality, with the missing mandibular second premolar, maxillary lateral incisor, maxillary second premolar, and mandibular central incisor accounting for 90% of CMT in hypodontia studies. The etiology of CMT has been attributed to environmental and genetic contributing factors, with the latter having a strong influence...
2023: International Journal of Clinical Pediatric Dentistry
#18
Meera Sojan, Seema Thakur
UNLABELLED: By definition, supplemental teeth are supernumerary teeth (ST) resembling adjacent teeth at the end of a tooth series and are well aligned in the arch. A case of the non-syndrome, supplemental type of supernumerary lateral incisor is presented, along with an unusual habit that was noted accidentally in the same child. In the present case, of the two lateral incisors, the mesial supplemental lateral incisor was causing an impaction of 11. In addition, the patient was aesthetically concerned...
2023: International Journal of Clinical Pediatric Dentistry
#19
REVIEW
Ajai Chari, Elham Askari, Jo Caers, Luciano J Costa, Brandi W Hilder, Amrita Krishnan, María-Victoria Mateos, Monique C Minnema, Albert Oriol, Kodandaram Pillarisetti, Niels W C J van de Donk, Paula Rodríguez-Otero
WHAT IS THIS SUMMARY ABOUT?: This plain language summary describes the results of a phase 1 research study (or clinical trial) called MonumenTAL-1 published in the New England Journal of Medicine in December 2022. A phase 1 study is an early clinical trial where researchers evaluate how safe a medicine is at different doses in a small number of people. In the MonumenTAL-1 study, researchers looked at a new medicine under development called talquetamab, for people living with multiple myeloma (a type of blood cancer) who did not respond (refractory), stopped responding (relapsed), or who had difficulty dealing with their previous treatments...
September 2023: Future Oncology
#20
Pankaj Singhania, Abhranil Dhar, Aditya Deshpande, Debaditya Das, Neeti Agrawal, Partha Pratim Chakraborty, Rana Bhattacharjee, Ajitesh Roy
OBJECTIVES: Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. The biochemical hallmark of pRTA is hyperchloremic metabolic acidosis with a normal anion gap, accompanied by appropriate acidification of the urine (simultaneous urine pH <5.3). Isolated defects in bicarbonate transport are rare, and pRTA is more often associated with Fanconi syndrome (FS), which is characterized by urinary loss of phosphate, uric acid, glucose, amino acids, low-molecular-weight proteins, and bicarbonate...
July 13, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
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