keyword
https://read.qxmd.com/read/38531626/extent-of-investigation-and-management-of-cases-of-unexplained-mismatch-repair-deficiency-u-dmmr-a-uk-cancer-genetics-group-consensus
#1
JOURNAL ARTICLE
Terri Patricia McVeigh, Kevin J Monahan, Joseph Christopher, Nick West, Malcolm Scott, Jennie Murray, Helen Hanson
BACKGROUND: Mismatch repair deficiency (dMMR) is a characteristic feature of cancers linked to Lynch syndrome. However, in most cases, it results from sporadic somatic events rather than hereditary factors. The term 'Lynch-like syndrome' (LLS) has been used to guide colorectal cancer surveillance for relatives of individuals with a dMMR tumour when somatic and germline genomic testing is uninformative. As the assessment of mismatch repair through immunohistochemistry and/or microsatellite instability is increasingly applied across various tumour types for treatment planning, dMMR is increasingly detected in tumours where suspicion of hereditary aetiology is low...
March 26, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38528146/phosphatidylserine-exposing-extracellular-vesicles-in-body-fluids-are-an-innate-defence-against-apoptotic-mimicry-viral-pathogens
#2
JOURNAL ARTICLE
Rüdiger Groß, Hanna Reßin, Pascal von Maltitz, Dan Albers, Laura Schneider, Hanna Bley, Markus Hoffmann, Mirko Cortese, Dhanu Gupta, Miriam Deniz, Jae-Yeon Choi, Jenny Jansen, Christian Preußer, Kai Seehafer, Stefan Pöhlmann, Dennis R Voelker, Christine Goffinet, Elke Pogge-von Strandmann, Uwe Bunz, Ralf Bartenschlager, Samir El Andaloussi, Konstantin M J Sparrer, Eva Herker, Stephan Becker, Frank Kirchhoff, Jan Münch, Janis A Müller
Some viruses are rarely transmitted orally or sexually despite their presence in saliva, breast milk, or semen. We previously identified that extracellular vesicles (EVs) in semen and saliva inhibit Zika virus infection. However, the antiviral spectrum and underlying mechanism remained unclear. Here we applied lipidomics and flow cytometry to show that these EVs expose phosphatidylserine (PS). By blocking PS receptors, targeted by Zika virus in the process of apoptotic mimicry, they interfere with viral attachment and entry...
March 25, 2024: Nature Microbiology
https://read.qxmd.com/read/38524755/can-nigerian-horse-owners-effectively-estimate-body-condition-and-cresty-neck-scores
#3
JOURNAL ARTICLE
Olumide Odunayo Akinniyi, Philip Wayuta Mshelia, Richard Emmanuel Edeh
A horse's body condition impacts every aspect of its life, including reproduction, performance, and health. Obesity and equine metabolic syndrome (EMS) are common in Nigeria; hence, early identification of a horse's obesity status by the owner is key to avoiding associated health issues such as EMS. Our study aimed to determine whether horse owners could effectively estimate their horses' body condition scores (BCSs) and cresty neck scores (CNSs). A total of 50 adult sedentary West African Barb horses owned by 50 different people were enrolled in the study...
March 2024: Journal of Equine Science
https://read.qxmd.com/read/38524255/characterizing-cardiac-function-in-icu-survivors-of-sepsis-a-pilot-study-protocol
#4
JOURNAL ARTICLE
Kevin Garrity, Christie Docherty, Kenneth Mangion, Rosie Woodward, Martin Shaw, Giles Roditi, Benjamin Shelley, Tara Quasim, Philip McCall, Joanne McPeake
BACKGROUND: Sepsis is one of the most common reasons for ICU admission and a leading cause of mortality worldwide. More than one-half of survivors experience significant physical, psychological, or cognitive impairments, often termed post-intensive care syndrome (PICS). Sepsis is recognized increasingly as being associated with a risk of adverse cardiovascular events that is comparable with other major cardiovascular risk factors. It is plausible that sepsis survivors may be at risk of unidentified cardiovascular disease, and this may play a role in functional impairments seen after ICU discharge...
March 2024: CHEST Crit Care
https://read.qxmd.com/read/38518433/epileptic-spasms-in-clusters-with-hypsarrhythmia-in-infancy-and-childhood-a-single-age-dependent-type-of-epilepsy-or-well-defined-epileptic-syndrome
#5
JOURNAL ARTICLE
Roberto H Caraballo, Adolfo Gallo, Gabriela Reyes, Giovana Flores, Eugenia Martín, Lenin Intriago, Diego Ballesta
OBJECTIVE: In this study, we present the electroclinical features and outcomes of 92 patients with epileptic spasms (ES) in clusters without modified or classical hypsarrhythmia that started in either in infancy or in childhood; we compared both groups in terms of electroclinical features, etiology, treatment, evolution, and outcome. METHODS: Between June 2000 and July 2022, 92 patients met the electroclinical diagnostic criteria of ES in clusters without hypsarrhythmia...
March 20, 2024: Epilepsy Research
https://read.qxmd.com/read/38513146/early-onset-west-syndrome-with-developmental-delay-associated-with-a-novel-klhl20-variant
#6
JOURNAL ARTICLE
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
No abstract text is available yet for this article.
March 21, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38508778/gut-microbiome-and-metabolic-and-immune-indices-in-males-with-or-without-evidence-of-metabolic-dysregulation
#7
JOURNAL ARTICLE
Kyle M Hatton-Jones, Nicholas P West, Mike W C Thang, Pin-Yen Chen, Peter Davoren, Allan W Cripps, Amanda J Cox
BACKGROUND: The contributions of the gut microbiota to obesity and metabolic disease represent a potentially modifiable factor that may explain variation in risk between individuals. This study aimed to explore relationships among microbial composition and imputed functional attributes, a range of soluble metabolic and immune indices, and gene expression markers in males with or without evidence of metabolic dysregulation (MetDys). METHODS: This case-control study included healthy males (n=15; 41...
March 21, 2024: Journal of obesity & metabolic syndrome
https://read.qxmd.com/read/38506155/brca1-associated-protein-1-tumor-predisposition-syndrome-and-kury-isidor-syndrome-from-genotype-phenotype-correlation-to-clinical-management
#8
REVIEW
Elizabeth Casey West, Marco Chiappetta, Aubrey Anne Mattingly, Maria Teresa Congedo, Jessica Evangelista, Annalisa Campanella, Carolina Sassorossi, Sara Flamini, Teresa Rossi, Mariaelena Pistoni, Ludovico Abenavoli, Stefano Margaritora, Filippo Lococo, Luigi Boccuto
The BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of BAP1 but have never been reported in the same subject or family, suggesting a mutually exclusive genotype-phenotype correlation...
March 20, 2024: Clinical Genetics
https://read.qxmd.com/read/38505540/missed-diagnosis-of-gestational-diabetes-mellitus-due-to-selective-screening-evidence-from-a-cross-sectional-study-in-the-west-nile-sub-region-uganda
#9
JOURNAL ARTICLE
Vincent Abindu, Derick Hope, Mary Aleni, Monicah Andru, Richard Mangwi Ayiasi, Victor Afayo, Caesar Oyet, Ritah Kiconco
PURPOSE: To ascertain the prevalence and risk factors of gestational diabetes mellitus (GDM) in pregnant women receiving antenatal care (ANC) services within the West Nile subregion of Uganda. PATIENTS AND METHODS: An analytical cross-sectional study was conducted on 233 pregnant women who are within 24-28 weeks of gestation and are receiving ANC services in selected hospitals. GDM was diagnosed according to the World Health Organization (WHO) criteria (2013). A questionnaire and anthropometric measurements were used to obtain relevant data...
2024: Diabetes, Metabolic Syndrome and Obesity
https://read.qxmd.com/read/38494280/movement-disorders-associated-with-pediatric-encephalitis
#10
REVIEW
Russell C Dale, Shekeeb S Mohammad
New onset movement disorders are a common clinical problem in pediatric neurology and can be infectious, inflammatory, metabolic, or functional in origin. Encephalitis is one of the more important causes of new onset movement disorders, and movement disorders are a common feature (~25%) of all encephalitis. However, all encephalitides are not the same, and movement disorders are a key diagnostic feature that can help the clinician identify the etiology of the encephalitis, and therefore appropriate treatment is required...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38493080/effectiveness-of-human-immunodeficiency-virus-prevention-strategies-by-mapping-the-geographic-dispersion-pattern-of-human-immunodeficiency-virus-prevalence-in-nanning-china
#11
JOURNAL ARTICLE
Ping Cen, Guo Xu, Jianxun Wu, Jiao Qin, Jinfeng He, Xiaofang Deng, Xi Yang, Peng Lu, Mengni Nong, Junjun Jiang, Li Ye, Hongyang Tang, Bingyu Liang, Hao Liang
BACKGROUND: The Guangxi government initiated two rounds of the Guangxi AIDS Conquering Project (GACP) in 2010 (Phase I) and 2015 (Phase II) to control human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) epidemics. However, the effectiveness of GACP in HIV prevention and treatment has rarely been reported. This study aimed to assess the effectiveness of the GACP implemented in Guangxi, China and provide data for strategy and praxis improvements to achieve Joint United Nations Programme on HIV/AIDS (UNAIDS) 95-95 targets...
March 16, 2024: BMC Public Health
https://read.qxmd.com/read/38493042/metabolic-etiologies-in-children-with-infantile-epileptic-spasm-syndrome-experience-at-a-tertiary-pediatric-neurology-center
#12
JOURNAL ARTICLE
Merve Feyza Yüksel, Neslihan Doğulu, Miraç Yıldırım, Engin Köse, Ömer Bektaş, Fatma Tuba Eminoğlu, Serap Teber
OBJECTIVE: Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies. METHODS: This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years. RESULTS: Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months...
March 16, 2024: Brain & Development
https://read.qxmd.com/read/38486648/ophthalmic-manifestations-of-migraine-in-a-nigerian-tertiary-health-facility
#13
JOURNAL ARTICLE
Eiman Bashir, Lawan Abdu, Mohammed Isyaku, Zahraddeen Garba Habib, Saudat Garba Habib, Musbahu Sani Kurawa, Sadiq Hassan
BACKGROUND: Migraine is a group of headache syndromes, with a prevalence of 5%-25%. Migraine is a complex recurrent headache disorder, often unilateral, throbbing or pulsating in nature aggravated by physical activity, bright light, and loud noises. Symptoms associated with migraine without aura are nausea, anorexia, and varying degrees of ophthalmic problems ranging from visual aura, ocular symptoms, and ophthalmoplegia. OBJECTIVES: The study determined the pattern and ophthalmic manifestations of migraine in Aminu Kano Teaching Hospital, Kano, Nigeria...
2024: Journal of the West African College of Surgeons
https://read.qxmd.com/read/38486258/a-mixed-method-study-on-the-impact-of-covid-19-on-mental-healthcare-in-ghana-rethinking-mental-health-service-delivery
#14
JOURNAL ARTICLE
Michael Zobi, Seth Kofi Abrokwa, Eugene Dordoye, Angel Phuti
BACKGROUND: Since its emergence, Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has caused severe health, social and economic challenges. Mental healthcare has been significantly affected globally, and even worse in developing countries. An emerging economy like Ghana in West Africa was not spared its disruptive effects. This study aimed to elucidate the impact of the coronavirus disease 2019, the COVID-19 pandemic (caused by SARS-CoV-2), on Ghana's mental healthcare system...
March 14, 2024: International Journal for Equity in Health
https://read.qxmd.com/read/38482803/electroretinogram-as-a-screening-tool-to-assess-vigabatrin-induced-retinal-toxicity-in-children-with-infantile-spasms
#15
JOURNAL ARTICLE
Suruthi Nagarajan, Rajesh Prabu, Nikulaa Parachuri, Mithun Thulasidas
PURPOSE: To assess the utility of electroretinogram (ERG) as a screening tool for vigabatrin-induced retinal toxicity in children with infantile spasms. METHODS: This was an observational cohort study including children with infantile spasms receiving treatment with vigabatrin. A 30-Hz flicker potential ERG, using the RETeval system (LKC Technologies), was done at baseline before starting vigabatrin at 6 months and 1 year. The amplitudes were recorded. RESULTS: Eleven children were included in the study...
March 14, 2024: Journal of Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/38476589/adherence-to-anti-retroviral-therapy-art-and-its-determinants-among-people-living-with-hiv-aids-at-bonga-kaffa-south-west-ethiopia
#16
JOURNAL ARTICLE
Asrat Tekle, Arega Tsegaye, Tsige Ketema
BACKGROUND: The scaling-up of antiretroviral therapy (ART) is the greatest accomplishment to reduce the burden of acquired immunodeficiency syndromes (AIDS) to date. However, it requires optimal adherence to be effective. Thus, this study was designed to assess the level of adherence of people living with HIV (PLWH) to ART and its determinants in one of the hardest-hit areas with HIV in Ethiopia. METHODS: A health facility-based cross-sectional study design was conducted among adult PLWH, age >18 years, and receiving ART in southwest Ethiopia...
2024: Patient Preference and Adherence
https://read.qxmd.com/read/38476470/a-nomogram-for-predicting-mortality-in-patients-with-pneumonia-associated-acute-respiratory-distress-syndrome-ards
#17
JOURNAL ARTICLE
Dong Huang, Dingxiu He, Linjing Gong, Wei Jiang, Rong Yao, Zongan Liang
BACKGROUND: There is no predictive tool developed for pneumonia-associated acute respiratory distress syndrome (ARDS) specifically so far, and the clinical risk classification of these patients is not well defined. Our study aims to construct an early prediction model for hospital mortality in patients with pneumonia-associated ARDS. METHODS: In this single-center retrospective study, consecutive patients with pneumonia-associated ARDS admitted into intensive care units (ICUs) in West China Hospital of Sichuan University in China between January 2012 and December 2018 were enrolled...
2024: Journal of Inflammation Research
https://read.qxmd.com/read/38470421/institutional-and-regional-variation-in-opioid-prescribing-for-hospitalized-infants-in-the-us
#18
JOURNAL ARTICLE
Olivia A Keane, Shadassa Ourshalimian, Ashwini Lakshmanan, Henry C Lee, Susan R Hintz, Nam Nguyen, Madeleine C Ing, Cynthia L Gong, Cameron Kaplan, Lorraine I Kelley-Quon
IMPORTANCE: High-risk infants, defined as newborns with substantial neonatal-perinatal morbidities, often undergo multiple procedures and require prolonged intubation, resulting in extended opioid exposure that is associated with poor outcomes. Understanding variation in opioid prescribing can inform quality improvement and best-practice initiatives. OBJECTIVE: To examine regional and institutional variation in opioid prescribing, including short- and long-acting agents, in high-risk hospitalized infants...
March 4, 2024: JAMA Network Open
https://read.qxmd.com/read/38466681/two-dimensional-and-doppler-trans-thoracic-echocardiographic-patterns-of-suspected-pediatric-heart-diseases-at-tibebe-ghion-specialized-teaching-hospital-and-adinas-general-hospital-bahir-dar-north-west-ethiopia-an-experience-from-an-lmic
#19
JOURNAL ARTICLE
Tesfaye Taye Gelaw, Amare Aschalew Yehuala, Senay Zerihun Mengste, Yalemwork Anteneh Yimer, Habtamu Bayih Engida, Abiot Tefera Alem
BACKGROUND: Transthoracic Echocardiography is the first-line, non-invasive, and accessible imaging modality to evaluate heart disease anatomy, physiology, and hemodynamics. We aim to describe the trans-thoracic echocardiography pattern of pediatric heart diseases and reasons for referral in children referred to Bahir Dar University Tibebe-Ghion Hospital and Adinas General Hospital. METHOD: A descriptive cross-sectional study of the archived Transthoracic, Two Dimensional, and Doppler Echocardiography assessments of children from birth to fifteen years of age performed between June 2019 to May 2023 was done...
2024: PloS One
https://read.qxmd.com/read/38461587/youssef-s-syndrome-a-rare-complication-of-caesarean-section-a-case-report
#20
Hamidou Soumana Diaouga, Maimouna Chaibou Yacouba, Rahamatou Madeleine Garba, Issa Salifou, Maman Sani Ousmane Manzo, Madi Nayama
INTRODUCTION AND IMPORTANCE: Youssef's syndrome or vesico-uterine fistula is an abnormal communication between the bladder and the uterus. It complicating of dystocic delivery, caesarean section and uterine rupture. The prevalence is globally 1-4 % of all obstetric fistulas. In Niger, it accounts for 6.4 % of iatrogenic urogenital fistulas. The best treatment is transvesical or transperitoneal surgery to close the bladder and uterus separately, with or without retaining the uterus...
March 9, 2024: International Journal of Surgery Case Reports
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