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REVIEW
Mayur Murali, Melody Ni, Dan S Karbing, Stephen E Rees, Matthieu Komorowski, Dominic Marshall, Padmanabhan Ramnarayan, Brijesh V Patel
Invasive mechanical ventilation is a key supportive therapy for patients on intensive care. There is increasing emphasis on personalised ventilation strategies. Clinical decision support systems (CDSS) have been developed to support this. We conducted a narrative review to assess evidence that could inform device implementation. A search was conducted in MEDLINE (Ovid) and EMBASE. Twenty-nine studies met the inclusion criteria. Role allocation is well described, with interprofessional collaboration dependent on culture, nurse:patient ratio, the use of protocols, and perception of responsibility...
April 17, 2024: British Journal of Anaesthesia
#2
JOURNAL ARTICLE
Martje Visser, Daniel Rossi, Hjalmar R Bouma, Jan C Ter Maaten
BACKGROUND: Clinical judgment, also known as gestalt or gut feeling, can predict deterioration and can be easily and rapidly obtained. To date, it is unknown what clinical judgement precisely entails. The aim of this study was to elucidate which features define the clinical impression of health care professionals in the ED. METHOD: A nominal group technique (NGT) was used to develop a consensus-based instrument to measure the clinical impression score (CIS, scale 1-10) and to identify features associated with either a more severe or less severe estimated disease severity...
February 27, 2024: Journal of Clinical Medicine
#3
JOURNAL ARTICLE
Gurmeet S Kanwal
This paper plays with the possibilities of writing about psychoanalytic work in different ways with different levels of disclosure about both patient and analyst. Various issues around anonymity, confidentiality, consent and identity are explored, highlighting the many questions that come up. These issues of how to write psychoanalytically are also addressed from the point of view of culture and the sociopolitical gestalt of our time.
2024: Psychoanalytic Quarterly
#4
JOURNAL ARTICLE
Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, Mónica Centeno-Pla, Jaime Sánchez-Pozo, Irene Lazaro-Rodriguez, Juan F Quesada-Espinosa, Ana Arteche-Lopez, Jonathan Olival, Marta Pacio-Miguez, María Palomares-Bralo, Fernando Santos-Simarro, Ramón Cancho-Candela, María Vázquez-López, Veronica Seidel, Antonio F Martinez-Monseny, Didac Casas-Alba, Daniel Grinberg, Susanna Balcells, Mercedes Serrano, Raquel Rabionet, Miguel A Martin, Roser Urreizti
BACKGROUND: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. METHODS: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. RESULTS: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects...
March 14, 2024: Pediatric Neurology
#5
JOURNAL ARTICLE
Sarah K S Knack, Nathaniel Scott, Brian E Driver, Matthew E Prekker, Lauren Page Black, Charlotte Hopson, Ellen Maruggi, Olivia Kaus, Walker Tordsen, Michael A Puskarich
STUDY OBJECTIVE: Compare physician gestalt to existing screening tools for identifying sepsis in the initial minutes of presentation when time-sensitive treatments must be initiated. METHODS: This prospective observational study conducted with consecutive encounter sampling took place in the emergency department (ED) of an academic, urban, safety net hospital between September 2020 and May 2022. The study population included ED patients who were critically ill, excluding traumas, transfers, and self-evident diagnoses...
March 25, 2024: Annals of Emergency Medicine
#6
JOURNAL ARTICLE
Marcello Niceta, Andrea Ciolfi, Marco Ferilli, Lucia Pedace, Camilla Cappelletti, Claudia Nardini, Mathis Hildonen, Luigi Chiriatti, Evelina Miele, Maria Lisa Dentici, Maria Gnazzo, Claudia Cesario, Elisa Pisaneschi, Anwar Baban, Antonio Novelli, Silvia Maitz, Angelo Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tumer, Maria Cristina Digilio, Manuela Priolo, Marco Tartaglia
Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements of the lysine-specific methyltransferase 2D (KMT2D) gene. While it is often recognizable due to a distinctive gestalt, the disorder is clinically variable, and a phenotypic scoring system has been introduced to help clinicians to reach a clinical diagnosis. The phenotype, however, can be less pronounced in some patients, including those carrying postzygotic mutations...
March 25, 2024: European Journal of Human Genetics: EJHG
#7
REVIEW
Anand Kumthekar, Nirali Sanghavi, Anuya Natu, Abhijeet Danve
PURPOSE OF REVIEW: Treatment guided by periodic and quantitative data assessment results in better outcomes compared to using clinical gestalt. While validated generic as well as specific disease activity measures for axial spondyloarthritis (axSpA) are available, there is vast scope to improve their actual utilization in routine clinical practice. In this review, we discuss available disease activity measures for axSpA, describe results from the survey conducted among general rheumatologists as well as Spondyloarthritis Research and Treatment Network (SPARTAN) members about disease activity measurement in daily practice, and discuss ways to improve axSpA disease activity using technological advances...
February 19, 2024: Current Rheumatology Reports
#8
JOURNAL ARTICLE
Mohammed Almannai, Dana Marafi, Maha S Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W El-Hattab
PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals...
February 14, 2024: Clinical Genetics
#9
JOURNAL ARTICLE
Emily W Baird, Daniel T Lammers, Peter Abraham, Zain G Hashmi, Russell L Griffin, Shannon W Stephens, Jan O Jansen, John B Holcomb
INTRODUCTION: The Pragmatic Randomized Optimal Platelet and Plasma Ratios (PROPPR) trial rapidly enrolled patients based on an ABC ≥ 2 score, or Physician Gestalt (PG) when ABC score was <2. The objective of this study was to describe what patients were enrolled by the two methods and whether patient outcomes differed based these enrollments. We hypothesized that there would be no differences in outcomes based on whether patients were enrolled via ABC score or PG. METHODS: Patients were enrolled with an ABC ≥ 2 or by PG when ABC was <2 by the attending trauma surgeon...
February 12, 2024: Journal of Trauma and Acute Care Surgery
#10
JOURNAL ARTICLE
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A Allan, David J Amor, Siddharth Banka, Donald G Basel, Laura D Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton-Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P Gilfillan, Nina B Gold, Karen W Gripp, Emma Hobson, Alexander M Holtz, A Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Sébastien Küry, François Lecoquierre, Paul Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E Posey, Rhonda E Schnur, Marie Shaw, Elliot Stolerman, Julie P Taylor, Erin Wadman, Emma Wakeling, Susan M White, Lawrence C Wong, James R Lupski, Olivier Lichtarge, Mark A Corbett, Jozef Gecz, Charles M Nicolet, Peggy J Farnham, Cheol-Hee Kim, Marwan Shinawi
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families...
February 5, 2024: American Journal of Human Genetics
#11
JOURNAL ARTICLE
Fatemeh Mahmoudzadeh, Atousa Akhgar, Hadi Mirfazaelian
UNLABELLED: Objective: Acute cholecystitis usually presents with right upper quadrant (RUQ) abdominal pain. However, there are other conditions with similar findings which make the diagnosis difficult. The objective of this study is to prospectively validate the performance of the bedside score for the diagnosis of cholecystitis in patients presenting to the emergency department (ED) with possible acute cholecystitis. STUDY DESIGN: We performed a prospective observational study of a convenience sample of patients with RUQ pain admitted to the ED of three academic hospitals...
February 15, 2024: Heliyon
#12
Inês Patrício Rodrigues, Beatriz Teixeira, Ana Miguel Capela, Marta Almeida, Cláudia Falcão Reis
Turnpenny-Fry Syndrome (TPFS) is a rare genetic disorder characterized by a severe developmental delay and a distinctive facial gestalt. It is caused by mutations in the Polycomb Group Ring Finger Protein 2 (PCGF2) gene, which is also known to play a role in numerous tumor types. Up to date, there have been no published case reports of patients with TPFS and concomitant malignancies. The present case describes the clinical evaluation and follow-up of a male infant with severe global developmental delay (GDD) and a distinctive phenotype...
January 2024: Curēus
#13
Sadat Kasanga, Abdallah Khashan, Ahsan Salik, Ahmed M Aboshehata, Sebastian Casillas, Mohammed Islam
Pulmonary embolisms (PEs) are potentially life-threatening emergencies that carry significant morbidity and mortality. Advances in treatment options and the safety of existing procedures have effectively reduced the long-term and short-term effects of the condition. Therefore, it is important to make an early diagnosis so that treatment options can be thoroughly explored. The D-dimer is an important tool in the early diagnosis of PEs. It is especially useful in ruling out the diagnosis in patients with a low to moderate suspicion of the disease...
December 2023: Curēus
#14
JOURNAL ARTICLE
Stephen Lankton
This article explains the method of treating depression with an intervention called Self-Image Building. Several antecedents or correlates of depression are briefly discussed as they form a gestalt backdrop for the many therapeutic approaches that have been researched and promoted as treatment or solutions to depression. The rationale and construction of the intervention is illustrated with a brief case example. Self-Image Building is discussed in the context of other theories of self-image, over-generalization, negativity bias, and as an internal discriminative stimulus for performance...
March 2024: American Journal of Clinical Hypnosis
#15
JOURNAL ARTICLE
Leon Gehri, Moritz L Schmidbauer, Timon Putz, Luka Ratkovic, Andreas Maskos, Cedric Zeisberger, Julia Zibold, Konstantinos Dimitriadis, On Behalf Of The Ignite Study Group
Medical nutritional therapy (MNT) in neurointensive care units (NICUs) is both particularly relevant and challenging due to prolonged analgosedation, immobilization, disorders of consciousness, and the high prevalence of dysphagia. Moreover, current guideline recommendations predominantly address the general intensive care unit (ICU) population, overlooking specific characteristics of neurological patients. We, therefore, conducted a web-based, cross-sectional survey for German-speaking neurointensivists mapping the clinical practices of MNT on NICUs to identify research gaps and common grounds for future clinical trials...
January 13, 2024: Journal of Clinical Medicine
#16
JOURNAL ARTICLE
Yung Hsiang Kao
OBJECTIVES: In systemic radionuclide therapy such as radioiodine (I-131) for differentiated thyroid cancer, post-therapy dosimetry is essential to verify pre-therapy predictions, which in turn informs the next treatment. However, post-therapy multi-time point dosimetry is resource intensive and unfeasible in many institutions. We devised a schema of rapid predictive dosimetry by circumventing post-First Strike multi-time point dosimetry with carefully assigned gestalt values of predicted kinetics to personalise the Second Strike prescription...
2024: Asia Oceania Journal of Nuclear Medicine & Biology
#17
Ashwini Kalshetty, Ashwini Chalikandy
Multiple endocrine neoplasia, type 1 (MEN1) syndrome is an autosomal dominant disease characterized by tumors involving parathyroid, pituitary, and pancreas. The diagnosis is mostly clinical and by the presence of MEN1 gene mutation. We present a case with initial presentation of neuroendocrine tumor of pancreas whose ancillary findings on 68 Ga-DOTATATE positron emission tomography-computed tomography helped in raising suspicion of MEN1, which was confirmed on genetic testing and family history. We emphasize the importance of using gestalt approach in such cases to avoid misdiagnosis or delay...
December 2023: World Journal of Nuclear Medicine
#18
JOURNAL ARTICLE
Zhanna Zhussupova, Dinmukhamed Ayaganov, Latina Tekebayeva, Altynshash Jaxybayeva, Ayten Mamedbayli, Amin Tamadon, Gulmira Zharmakhanova
This bibliometric analysis provides an in-depth exploration of the scholarly landscape in the field of Prechtl General Movement Assessment (GMA) research, spanning the period from 1961 to 2023. It offers valuable insights into the evolutionary trajectory and global impact of GMA. The study employs a longitudinal approach, meticulously tracking trends in scholarly output, international collaborations, and authorship patterns. Notably, our findings reveal a significant increase in GMA-related publications, highlighting the growing prominence of this field...
January 2024: Early Human Development
#19
Hugo H Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported...
December 14, 2023: Genes
#20
JOURNAL ARTICLE
Wanying Liang, Yuqing Zhang
Lacking a comprehensive understanding of sadomasochism makes difficulties in judicial dispositions, clinical interventions, and mental health services. This study explores the correlation between sadomasochists' growth experience and their sadomasochistic behaviors and fantasies. We interviewed 51 sadomasochists from a Chinese subcultural website, coded and analyzed the interview records, conducted correlation and cluster analyses on the reference points of the nodes of impressive experience and sadomasochistic behaviors and fantasies, and constructed the model of Experience-Behaviors and Fantasies...
December 17, 2023: PsyCh Journal
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