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JOURNAL ARTICLE
Hanan S Anbar, Nisha Yarifbhai Vahora, Hajra Laghman Shah, Mariyam Mohammed Azam, Tamanna Islam, Fatima Hersi, Hany A Omar, Wolfgang Dohle, Barry V L Potter, Mohammed I El-Gamal
Polycystic ovary syndrome (PCOS) is a prevalent hormonal disorder that affects women of reproductive age. It is characterized by abnormal production of androgens, typically present in small quantities in females. This study aimed to investigate the therapeutic potential of Irosustat (STX64), STX140, and compound 1G as new drug candidates for treatment of letrozole-induced PCOS in female Wistar rats. 36 rats were divided into six groups of equal size. PCOS was induced in all groups, except the normal control group, by administering letrozole orally (1 mg/kg/day for 35 days)...
October 16, 2023: European Journal of Pharmacology
#22
JOURNAL ARTICLE
Ryan Yann Shern Keh, Daniel du Plessis, Gillian M Potter, Christopher Kobylecki, Paul Cooper
A young woman with Rogers syndrome (thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness) presented with headache, recurrent supraventricular tachycardia and features of an upper gastrointestinal bleed, 1 month after radiofrequency cardiac ablation for supraventricular tachycardia. She deteriorated rapidly after endoscopy and subsequently died. Brain imaging during the acute deterioration showed diffuse intracranial air embolism and hypoxic-ischaemic injury. Postmortem examination showed an atrio-oesophageal fistula, a rare complication of cardiac ablation...
October 12, 2023: Practical Neurology
#23
Chuxu Wang, Tingting Cao, Guodong Hu, Bo Min, Haibo Hu, Bing Liu, Yaqin Wang, Xiaohua Zuo
Hypoglycemia has multiple causes, but the most common is a complication of insulin treatment. In addition to insulin therapy, tumors such as insulinomas of pancreatic origin and extrapancreatic tumors causing paraneoplastic syndromes should also be considered. Solitary fibrous tumors of the pleura (SFTP) is rare tumor, which when associated with hypoglycemia causes Doege-Potter syndrome. This article reports a case of a 69-year-old man with Doege-Potter syndrome and underwent the first surgical resection for SFTP...
2023: Frontiers in Oncology
#24
JOURNAL ARTICLE
Qasim Gohir, Shilajit Ghosh, Olivia Bosher, Emma Crawford, Koottalai Srinivasan, Harmesh Moudgil
Refractory hypoglycaemia in a patient with a solitary fibrous tumour (SFT) is very rare and was first reported in 1930 independently by Doege and Potter, leading to it being named 'Doege-Potter syndrome'. Here, we report the unusual case of a 77-year-old woman with a giant solitary fibrous pleural tumour who presented with complicating pulmonary hypertension and associated heart failure with hypoglycaemia, and subsequently underwent curative resection of the pleural mass with clinical improvement.
September 2023: Clinical Medicine: Journal of the Royal College of Physicians of London
#25
REVIEW
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D Archibald, Anna Baud, Ted W Brown, Dejan B Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V Gabis, Samantha J Grudzien, Deborah A Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R Frank Kooy, Claudine M Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M Miller, Federica Alice Maria Montanaro, Matthew W Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M Rivera, Katharine Shelly, Peter K Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J Hagerman
The premutation of the fragile X messenger ribonucleoprotein 1 ( FMR1 ) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins...
September 21, 2023: Cells
#26
JOURNAL ARTICLE
Jordan G Tropf, Benjamin W Hoyt, Sarah A Walsh, Jeffery A Gibson, Elizabeth M Polfer, Jason M Souza, Benjamin K Potter
BACKGROUND: There are little long-term health data, particularly in terms of body composition and development of metabolic syndromes, to help surgeons to guide the decision between limb salvage and amputation in patients with limb-threatening trauma. The purpose of this study was to compare long-term health outcomes after high-energy lower-extremity trauma between patients who underwent attempted flap-based limb salvage or amputation. METHODS: We performed a retrospective review of servicemembers with a minimum 10-year follow-up who underwent flap-based limb salvage followed by unilateral amputation or continued limb salvage after combat-related, lower-extremity trauma between 2005 and 2011...
September 21, 2023: Journal of Bone and Joint Surgery. American Volume
#27
Dipanjali Thombare, Prachi Dixit, Ankit Chavan, Ashwini Najan
Sirenomelia is an extremely uncommon congenital deformity in which neonate has fused lower limbs associated with various visceral malformations including urogenital and gastrointestinal tract, pulmonary hypoplasia, and potter's facies. The prevalence is 0.8 to 1 per 100,000 newborns. About 300 cases were recorded till date. We describe a case of 31-year G4P1L1A2 with previous lower segment caesarean section with gestational age of 22 weeks 5 days with anomaly scan suggestive of single live intrauterine pregnancy of 21 weeks 5 days with bilateral renal agenesis with placenta previa and no demonstrable amniotic fluid pocket seen...
2023: Journal of Education and Health Promotion
#28
JOURNAL ARTICLE
Angela Gwaltney, Sarah Nelson Potter, Sarika U Peters, Rene L Barbieri-Welge, Lucia T Horowitz, Lisa M Noll, Rachel J Hundley, Lynne M Bird, Wen-Hann Tan, Anjali Sadhwani, Anne Wheeler
In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes...
August 15, 2023: Journal of Autism and Developmental Disorders
#29
JOURNAL ARTICLE
Daniele Avenoso, Varun Mehra, Liron Barnea Slonim, Madson de Farias, Hassan Alshehri, Styliani Bouziana, Pramila Krishnamurthy, Austin Kulasekararaj, Francesco Dazzi, Henry Wood, Michelle Kenyon, Ye Ting Leung, Sandra Anteh, Mili Naresh Shah, Guy Hannah, Fabio Serpenti, Amna Gameil, Christianne Bourlon, Oana Diana Dragoi, Antonio Pagliuca, Victoria Potter
BACKGROUND: Allogeneic haematopoietic stem cell transplant (HSCT) is a curative strategy for acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS). The prediction of transplant related mortality (TRM) using the HCT-CI score and an arbitrary upper limit of 55 years for administering myeloablative conditioning (MAC) are common strategies to ensure a safe procedure. Reduced toxicity conditioning regimens are additional methods to deliver safe and effective myeloablation. OBJECTIVES: Herein we report the outcome of AML and MDS patients conditioned with fludarabine and a myeloablative dose of busulfan (FB4) stratified by age and HCT-CI score...
August 12, 2023: Transplantation and cellular therapy
#30
JOURNAL ARTICLE
Sumit R Monu, D'Anna L Potter, Tang-Dong Liao, Keyona Nicole King, Pablo A Ortiz
Inactivating mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by the early onset of obesity, insulin resistance, and renal dysfunction. However, the role of ALMS1 in renal function and hemodynamics is unclear. We previously found ALMS1 is expressed in Thick Ascending Limbs where it binds and decreases NKCC2 activity. We hypothesized that ALMS1 is expressed in macula densa cells and its deletion enhances tubuloglomerular feedback (TGF) and reduces glomerular filtration rate (GFR) in rats...
August 10, 2023: American Journal of Physiology. Renal Physiology
#31
JOURNAL ARTICLE
Samantha J Potter, Madison L Erdody, Nicholas J Bamford, Edward J Knowles, Nicola Menzies-Gow, Philippa K Morrison, Caroline McG Argo, Bridgett J McIntosh, Katelyn Kaufman, Patricia A Harris, Simon R Bailey
BACKGROUND: There is a high prevalence of obesity in ponies and pleasure horses. This may be associated with equine metabolic syndrome and an increased risk of laminitis. Body condition scoring (BCS) systems are widely used but are subjective and not very sensitive. OBJECTIVES: To derive a body condition index (BCI), based on objective morphometric measurements, that correlates with % body fat. STUDY DESIGN: Retrospective cohort study. METHODS: Morphometric measurements were obtained from 21 ponies and horses in obese and moderate body condition...
August 4, 2023: Equine Veterinary Journal
#32
JOURNAL ARTICLE
Emily M L Bowman, Nathan E Brummel, Gideon A Caplan, Colm Cunningham, Lis A Evered, Kirsten M Fiest, Timothy D Girard, Thomas A Jackson, Sara C LaHue, Heidi L Lindroth, Alasdair M J Maclullich, Daniel F McAuley, Esther S Oh, Mark A Oldham, Valerie J Page, Pratik P Pandharipande, Kelly M Potter, Pratik Sinha, Arjen J C Slooter, Aoife M Sweeney, Zoë Tieges, Edwin Van Dellen, Mary Elizabeth Wilcox, Henrik Zetterberg, Emma L Cunningham
BACKGROUND: Delirium, a common syndrome with heterogeneous etiologies and clinical presentations, is associated with poor long-term outcomes. Recording and analyzing all delirium equally could be hindering the field's understanding of pathophysiology and identification of targeted treatments. Current delirium subtyping methods reflect clinically evident features but likely do not account for underlying biology. METHODS: The Delirium Subtyping Initiative (DSI) held three sessions with an international panel of 25 experts...
July 31, 2023: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#33
JOURNAL ARTICLE
Thomas Starkey, Maria C Ionescu, Michael Tilby, Martin Little, Emma Burke, Matthew W Fittall, Sam Khan, Justin K H Liu, James R Platt, Rosie Mew, Arvind R Tripathy, Isabella Watts, Sophie Therese Williams, Nathan Appanna, Youssra Al-Hajji, Matthew Barnard, Liza Benny, Alexander Burnett, Jola Bytyci, Emma L Cattell, Vinton Cheng, James J Clark, Leonie Eastlake, Kate Gerrand, Qamar Ghafoor, Simon Grumett, Catherine Harper-Wynne, Rachel Kahn, Alvin J X Lee, Oliver Lomas, Anna Lydon, Hayley Mckenzie, Hari Panneerselvam, Jennifer S Pascoe, Grisma Patel, Vijay Patel, Vanessa A Potter, Amelia Randle, Anne S Rigg, Tim M Robinson, Rebecca Roylance, Tom W Roques, Stefan Rozmanowski, René L Roux, Ketan Shah, Remarez Sheehan, Martin Sintler, Sanskriti Swarup, Harriet Taylor, Tania Tillett, Mark Tuthill, Sarah Williams, Yuxin Ying, Andrew Beggs, Tim Iveson, Siow Ming Lee, Gary Middleton, Mark Middleton, Andrew Protheroe, Tom Fowler, Peter Johnson, Lennard Y W Lee
Patients with cancer are at increased risk of hospitalisation and mortality following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. However, the SARS-CoV-2 phenotype evolution in patients with cancer since 2020 has not previously been described. We therefore evaluated SARS-CoV-2 on a UK populationscale from 01/11/2020-31/08/2022, assessing case-outcome rates of hospital assessment(s), intensive care admission and mortality. We observed that the SARS-CoV-2 disease phenotype has become less severe in patients with cancer and the non-cancer population...
July 25, 2023: Scientific Reports
#34
JOURNAL ARTICLE
Ryan J Kramer, Amir Nima Fatahian, Alice Chan, Jeffery Mortenson, Jennifer Osher, Bo Sun, Lauren E Parker, Michael B Rosamilia, Kyra B Potter, Kaila Moore, Sage L Atkins, Jill A Rosenfeld, Alona Birjiniuk, Edward Jones, Taylor S Howard, Jeffrey J Kim, Daryl A Scott, Seema Lalani, Omid M T Rouzbehani, Samantha Kaplan, Marissa A Hathaway, Jennifer L Cohen, S Yukiko Asaki, Hugo R Martinez, Sihem Boudina, Andrew P Landstrom
BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor PRDM16 . Early studies suggest that deletion of PRDM16 may underlie cardiomyopathy in patients with 1p36 deletion; however, the prognostic impact of PRDM16 loss is unknown. METHODS: This retrospective cohort included subjects with 1p36 deletion syndrome from 4 hospitals. Prevalence of cardiomyopathy and freedom from death, cardiac transplantation, or ventricular assist device were analyzed...
August 2023: Circulation. Genomic and Precision Medicine
#35
Chiara Corsano, Matteo Paradiso, Ester Daniela Laudadio, Francesco Sollitto, Olga Lamacchia
Hypoglycemia in patients without diabetes is a diagnostic challenge for the endocrinologist. Sometimes it is related to rare causes such as Doege-Potter Syndrome (DPS). DPS is caused by an abnormal insulin-like grow factor 2(IGF-2) that retains part of the E domain during the production process, resulting in a longer peptide called "big-IGF-2". We present a case report of DPS with emphasis on the diagnosis and especially on the difficulties in interpreting the biochemical findings. An elderly patient with an intrathoracic neoplasm and hypoglycemia underwent various tests: insulin autoantibodies and fasting test were both negative...
June 12, 2023: Journal of Clinical Medicine
#36
Viviana Castaldo, Daniela Domenici, Mauro Valentino Biscosi, Paolo Ubiali, Cesare Miranda, Giorgio Zanette, Cinzia Mazzon, Maurizio Tonizzo
BACKGROUND: Doege-Potter syndrome is a rare paraneoplastic entity that is often diagnosed incidentally during the work-up of hypoglycemia of unclear etiology. It is characterized by a non-islet cell tumor hypoglycemia mostly associated with solitary fibrous tumors. These uncommon tumors have been reported in <5% of solitary fibrous tumors. Although not unique in its kind, this case is extremely important as this syndrome often conceals unrecognized tumors that can be surgically resolved...
2023: Endocrine, Metabolic & Immune Disorders Drug Targets
#37
JOURNAL ARTICLE
Nikhil Panda, Jacob Hurd, James Madsen, Jacob N Anderson, Margaret E Yang, Jon Sulit, Sangkavi Kuhan, Alexandra L Potter, Yolonda L Colson, Chi-Fu Jeffrey Yang, Dean M Donahue
OBJECTIVES: We aimed to report efficacy, safety, and health-related quality of life (HRQoL) outcomes of a multidisciplinary treatment approach including supraclavicular thoracic outlet decompression among patients with thoracic outlet syndrome (TOS). BACKGROUND: TOS is a challenging condition where controversy remains in diagnosis and treatment, primarily given a lack of data exploring various treatment approaches and associated patient outcomes. METHODS: Patients who underwent unilateral, supraclavicular thoracic outlet decompression, or pectoralis minor tenotomy for neurogenic, venous, or arterial TOS were identified from a prospectively maintained database...
September 1, 2023: Annals of Surgery
#38
JOURNAL ARTICLE
V D Parshin, V V Fadeev, M A Ursov, A V Parshin, G E Runova
Diagnostic and treatment algorithms for large mediastinal tumors are clear. However, long-term results are not always good. They largely depend on early diagnosis and morphological structure of tumor. Neoplasms may be asymptomatic for a long time, especially in case of slow growth. These tumors are usually diagnosed as soon as complications occur (for example, compression syndrome). Routine X-ray screening is rarer situation. Paraneoplastic syndromes are rare, and some ones are casuistic and unknown to surgical community...
2023: Khirurgiia
#39
JOURNAL ARTICLE
Dan Z Reinstein, Joseph G Potter, Ruchi Gupta, Robert Yammouni, Timothy J Archer
PURPOSE: To evaluate and compare the incidence of transient light sensitivity syndrome (TLSS) after myopic laser in situ keratomileusis (LASIK), hyperopic LASIK, and myopic small incision lenticule extraction (SMILE). METHODS: A retrospective analysis was performed of consecutive LASIK and myopic SMILE cases, performed with the VisuMax femtosecond laser and MEL 80 or MEL 90 excimer laser (both Carl Zeiss Meditec AG) between January 2010 and February 2021 at London Vision Clinic, London, United Kingdom...
June 2023: Journal of Refractive Surgery
#40
JOURNAL ARTICLE
Kreepa G Kooblall, Mark Stevenson, Michelle Stewart, Lachlan Harris, Oressia Zalucki, Hannah Dewhurst, Natalie Butterfield, Houfu Leng, Tertius A Hough, Da Ma, Bernard Siow, Paul Potter, Roger D Cox, Stephen D M Brown, Nicole Horwood, Benjamin Wright, Helen Lockstone, David Buck, Tonia L Vincent, Fadil M Hannan, J H Duncan Bassett, Graham R Williams, Kate E Lines, Michael Piper, Sara Wells, Lydia Teboul, Raoul C Hennekam, Rajesh V Thakker
The nuclear factor I/X ( NFIX ) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS). NFIX mutations associated with MAL mainly cluster in exon 2 and are cleared by nonsense-mediated decay (NMD) leading to NFIX haploinsufficiency, whereas NFIX mutations associated with MSS are clustered in exons 6-10 and escape NMD and result in the production of dominant-negative mutant NFIX proteins...
June 2023: JBMR Plus
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