keyword
https://read.qxmd.com/read/38335407/naa10-gene-related-ogden-syndrome-with-obstructive-hypertrophic-cardiomyopathy-a-rare-case-report
#21
JOURNAL ARTICLE
Feihong Li, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu, Jian Tang, Yaoqin Hu
RATIONALE: Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. Reported cases of this syndrome are approximately 20 children and are associated with facial dysmorphism, growth delay, developmental disorders, congenital heart disease, and arrhythmia. PATIENT CONCERNS: We present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C>T, p.(Arg83Cys)]. During infancy, she exhibited features such as left ventricular hypertrophy, protruding eyeballs, and facial deformities...
February 9, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38329575/spontaneous-hemodynamic-improvement-after-balloon-pulmonary-angioplasty-in-patients-with-chronic-thromboembolic-pulmonary-hypertension-is-observed-within-a-short-term-after-balloon-pulmonary-angioplasty
#22
JOURNAL ARTICLE
Shinya Fujii, Shinya Nagayoshi, Takuya Matsumoto, Takashi Miyamoto, Kazuo Ogawa, Michihiro Yoshimura
Natural hemodynamic changes after balloon pulmonary artery angioplasty (BPA) in a unified state without oxygen administration in patients with chronic thromboembolic pulmonary hypertension (CTEPH) remains undetermined. This study aimed to clarify the delayed changes in the hemodynamics after BPA in patients with CTEPH. We analyzed 73 consecutive patients with CTEPH who underwent BPA between July 2014 and December 2022. We extracted and evaluated hemodynamic data of the right heart catheter without oxygen administration immediately before and after the first BPA; and immediately before the second BPA, as the "post-delayed changes" after BPA...
February 8, 2024: Cardiovascular Intervention and Therapeutics
https://read.qxmd.com/read/38317125/effects-of-6-month-customized-home-based-exercise-on-motor-development-bone-strength-and-parental-stress-in-children-with-simple-congenital-heart-disease-a-single-blinded-randomized-clinical-trial
#23
RANDOMIZED CONTROLLED TRIAL
Qing Du, Xin Li, Zhaoxi Wang, Sun Chen, Xi Zhang, Juping Liang, Haibin Guo, Nan Chen, Hong Yu, Xiaoqing Zhu, Xuan Zhou, Kun Sun
BACKGROUND: New "noncardiac" problems in children with congenital heart disease (CHD), such as developmental delay or long-term neurodevelopmental impairments, have attracted considerable attention in recent years. It is hypothesized that exercise might attenuate CHD-associated neurodevelopmental impairments; however, this has not been thoroughly investigated. The objective of this prospective, single-blinded, randomized controlled experiment was to evaluate the impact of customized home-based exercise for children with CHD...
February 6, 2024: BMC Medicine
https://read.qxmd.com/read/38313450/delayed-68-ga-fapi-46-pet-mr-imaging-confirms-ongoing-fibroblast-activation-in-patients-after-acute-myocardial-infarction
#24
JOURNAL ARTICLE
Jana Kupusovic, Lukas Kessler, Sandra Kazek, Michal Kamil Chodyla, Lale Umutlu, Fadi Zarrad, Michael Nader, Wolfgang P Fendler, Zohreh Varasteh, Ken Hermann, Dobromir Dobrev, Reza Wakili, Tienush Rassaf, Johannes Siebermair, Christoph Rischpler
PURPOSE OF THE REPORT: Combined cardiac 68 Ga-Fibroblast-Activation Protein-alpha inhibitor (FAPI) positron-emission tomography (PET) and cardiac magnetic resonance imaging (MRI) constitute a novel diagnostic tool in patients for the assessment of myocardial damage after an acute myocardial infarction (AMI). Purpose of this pilot study was to evaluate simultaneous Ga-68-FAPI-46-PET/MR imaging in the delayed phase after AMI. MATERIAL AND METHODS: Eleven patients underwent hybrid 68 Ga-FAPI-46 PET/MRI post AMI...
February 2024: IJC Heart & Vasculature
https://read.qxmd.com/read/38306140/a-new-tool-to-improve-communication-between-hidradenitis-suppurativa-patients-and-health-care-providers
#25
JOURNAL ARTICLE
Melissa P Zundell, Joseph F Merola, Alice B Gottlieb
BACKGROUND: Hidradenitis suppurativa (HS) patients tend to experience diagnosis delay, misdiagnosis, and embarrassment due to their condition. To address these issues, the International Dermatology Outcome Measure (IDEOM) HS Workgroup collaborated with patients to modify an existing Novartis questionnaire to better suit the needs of HS patients. This quality improvement project aimed to use the resulting Shine a Light on HS as Modified by the IDEOM HS Workgroup Questionnaire to enhance communication between HS patients and providers, improve clinical experience for HS patients, and gather relevant demographic data...
February 1, 2024: Journal of Drugs in Dermatology: JDD
https://read.qxmd.com/read/38301108/duodenal-web-in-an-elderly-patient-with-abdominal-discomfort-and-vomiting-a-rare-case
#26
JOURNAL ARTICLE
Mehdi Alimadadi, Reza Ghanbari, Mohanna Yousefi, Somayeh Sadani
Duodenal web is complete or incomplete obstruction of the duodenum due to a membranous web or intraluminal diverticulum. This abnormality is one of the main causes of intestinal obstruction in children. The symptoms of this disease may rarely appear in older age and cause gastric outlet obstruction in adults. In the present paper, we report a 69-year-old male patient with heartburn, abdominal discomfort, frequent non-bilious, non-bloody vomiting for the past 6 months. Furthermore, the patient had experienced a weight loss of 12 kg during this period...
August 1, 2023: Archives of Iranian Medicine
https://read.qxmd.com/read/38298917/evaluating-registry-based-trial-economics-results-from-the-stress-clinical-trial
#27
JOURNAL ARTICLE
Eric L Eisenstein, Kevin D Hill, Nancy Wood, Jerry L Kirchner, Kevin J Anstrom, Christopher B Granger, Sunil V Rao, H Scott Baldwin, Jeffrey P Jacobs, Marshall L Jacobs, Prince J Kannankeril, Eric M Graham, Sean M O'Brien, Jennifer S Li
BACKGROUND: Registry-based trials have the potential to reduce randomized clinical trial (RCT) costs. However, observed cost differences also may be achieved through pragmatic trial designs. A systematic comparison of trial costs across different designs has not been previously performed. METHODS: We conducted a study to compare the current Steroids to Reduce Systemic inflammation after infant heart surgery (STRESS) registry-based RCT vs. two established designs: pragmatic RCT and explanatory RCT...
April 2024: Contemporary Clinical Trials Communications
https://read.qxmd.com/read/38290114/challenging-case-a-multidisciplinary-approach-to-demystifying-chronic-sleep-impairment-in-an-infant-with-a-complex-medical-and-behavioral-profile
#28
JOURNAL ARTICLE
Erica Gleason, Kristina Malik, Elise Sannar, Dana Kamara, Verenea Serrano, Marilyn Augustyn
X is a 22-month-old White male infant with a complex medical history, including diagnoses of FBXO11 mutation, hypotonia, restrictive lung disease and mild intermittent asthma, laryngotracheomalacia, obstructive sleep apnea (OSA), feeding difficulties with a history of aspiration, gastroesophageal reflux disease (GERD), and developmental delays. X's medical presentation has resulted in multiple prior medical admissions for respiratory failure due to acute illnesses, procedures and treatments including gastrojejunostomy (GJ) tube dependence, supraglottoplasty to reshape tissues of the upper larynx, and the use of biphasic positive airway pressure (BiPAP) at night and room air during the day when he is at baseline...
January 30, 2024: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/38288202/vein-of-galen-aneurysmal-malformation-a-case-report-and-literature-review
#29
Khushi Bhattarai, Marmik Patel, Monica Garcia, Florentina Litra
The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median pros encephalic vein of Markowski. Although most of the VGAM cases are diagnosed in the neonatal period, sometimes it can also present during early childhood. It is very crucial to intervene immediately following the diagnosis because if left untreated, morbidity and mortality are imminent. The most common causes of morbidity and mortality are high-output congestive heart failure (most common neonatal presentation), hydrocephalus (most common presentation in infants), headache, and seizures...
December 2023: Curēus
https://read.qxmd.com/read/38278214/impact-of-an-e-learning-training-for-interpreting-intrapartum-fetal-heart-rate-monitoring-to-avoid-perinatal-asphyxia-a-before-after-multicenter-observational-study
#30
JOURNAL ARTICLE
Aziz Slaoui, Cécile Cordier, Emilie Lefevre-Morane, Véronique Tessier, François Goffinet, Camille Leray, Agnès Bourgeois-Moine, Jeanne Sibiude, Anne-Charlotte Laurent, Elie Azria
INTRODUCTION: Perinatal asphyxia, a condition that results from compromised placental or pulmonary gas exchange during the birth process, is rare but can lead to serious neonatal and long-term consequences. The visual analysis of cardiotocography (CTG) is designed to avoid perinatal asphyxia, but its interpretation can be difficult. Our aim was to test the impact of an e-learning training program for interpreting CTG on the rate of avoidable perinatal asphyxia at term. METHOD: We conducted a retrospective multicenter before-after study comparing two periods, before and after the implementation of e-learning training program from July 1, 2016 to December 31, 2016, in CTG interpretation for midwives and obstetricians in five maternity hospitals in the Paris area, France...
January 24, 2024: Journal of Gynecology Obstetrics and Human Reproduction
https://read.qxmd.com/read/38273340/predicting-cognitive-scores-from-wearable-based-digital-physiological-features-using-machine-learning-data-from-a-clinical-trial-in-mild-cognitive-impairment
#31
JOURNAL ARTICLE
Yuri G Rykov, Michael D Patterson, Bikram A Gangwar, Syaheed B Jabar, Jacklyn Leonardo, Kok Pin Ng, Nagaendran Kandiah
BACKGROUND: Continuous assessment and remote monitoring of cognitive function in individuals with mild cognitive impairment (MCI) enables tracking therapeutic effects and modifying treatment to achieve better clinical outcomes. While standardized neuropsychological tests are inconvenient for this purpose, wearable sensor technology collecting physiological and behavioral data looks promising to provide proxy measures of cognitive function. The objective of this study was to evaluate the predictive ability of digital physiological features, based on sensor data from wrist-worn wearables, in determining neuropsychological test scores in individuals with MCI...
January 25, 2024: BMC Medicine
https://read.qxmd.com/read/38263797/early-wound-and-sternal-management-following-pediatric-cardiac-surgery
#32
JOURNAL ARTICLE
Dana B Gal, John D Cleveland, Alaina K Kipps
Early postoperative wound management following congenital heart surgery remains an area without equipoise. Precautionary restrictions can impact quality of life, development, and delay access to other needed care. The influence of different practices on wound healing and complications is unknown. We surveyed Pediatric Acute Care Cardiology Collaborative member centers regarding postoperative wound closure, wound vacuum-assisted closure (VAC) use, sternal precautions, and restrictions in the early postoperative period...
January 23, 2024: World Journal for Pediatric & Congenital Heart Surgery
https://read.qxmd.com/read/38242972/energetics-of-sinusoidal-exercise-below-and-across-critical-power-and-the-effects-of-fatigue
#33
JOURNAL ARTICLE
Marta Borrelli, Sheida Shokohyar, Susanna Rampichini, Paolo Bruseghini, Christian Doria, Eloisa Guglielmina Limonta, Guido Ferretti, Fabio Esposito
PURPOSE: Previous studies investigating sinusoidal exercise were not devoted to an analysis of its energetics and of the effects of fatigue. We aimed to determine the contribution of aerobic and anaerobic lactic metabolism to the energy balance and investigate the fatigue effects on the cardiorespiratory and metabolic responses to sinusoidal protocols, across and below critical power (CP). METHODS: Eight males (26.6 ± 6.2 years; 75.6 ± 8...
January 19, 2024: European Journal of Applied Physiology
https://read.qxmd.com/read/38242036/the-protective-effect-of-bergamot-polyphenolic-fraction-on-reno-cardiac-damage-induced-by-doca-salt-and-unilateral-renal-artery-ligation-in-rats
#34
JOURNAL ARTICLE
Cristina Carresi, Antonio Cardamone, Anna Rita Coppoletta, Rosamaria Caminiti, Roberta Macrì, Francesca Lorenzo, Federica Scarano, Rocco Mollace, Lorenza Guarnieri, Stefano Ruga, Saverio Nucera, Vincenzo Musolino, Micaela Gliozzi, Ernesto Palma, Carolina Muscoli, Maurizio Volterrani, Vincenzo Mollace
To date, the complex pathological interactions between renal and cardiovascular systems represent a real global epidemic in both developed and developing countries. In this context, renovascular hypertension (RVH) remains among the most prevalent, but also potentially reversible, risk factor for numerous reno-cardiac diseases in humans and pets. Here, we investigated the anti-inflammatory and reno-cardiac protective effects of a polyphenol-rich fraction of bergamot (BPF) in an experimental model of hypertension induced by unilateral renal artery ligation...
January 18, 2024: Biomedicine & Pharmacotherapy
https://read.qxmd.com/read/38216140/heart-rate-variability-as-a-prognostic-tool-for-gastroschisis-infants-in-the-neonatal-intensive-critical-unit
#35
JOURNAL ARTICLE
Chioma Moneme, Angela K S Gummadi, Sherry L Kausch, Briana Belmonte, Mark A Fleming Ii, Daniel E Levin, Brynne Archer Sullivan
BACKGROUND: Gastroschisis is the most common congenital abdominal wall defect, with an increasing incidence. It results in extrusion of abdominal contents with associated delayed intestinal motility. Abnormal heart rate characteristics such as decreased variability occur due to the inflammatory response to sepsis in preterm infants. OBJECTIVE: Test the hypothesis that infants with gastroschisis have decreased heart rate variability after birth and that this physiomarker may predict outcomes...
January 12, 2024: American Journal of Perinatology
https://read.qxmd.com/read/38206397/nt-probnp-course-during-mis-c-post-covid-19-an-observational-study
#36
JOURNAL ARTICLE
Saïd Bichali, Naïm Ouldali, François Godart, Patrice Maboudou, Ali Houeijeh, Stéphane Leteurtre
Multisystem inflammatory syndrome in children (MIS-C or PIMS-TS) is a severe disease. N-terminal pro-B-type natriuretic peptide (NT-proBNP) is used for positive and differential diagnosis, diagnosis of complications and severity, and cardiogenic shock prediction. However, contrasting cut-offs have been suggested. The aims of the present study were to compare NT-proBNP values depending on the time of measurement and to describe the NT-proBNP course during the MIS-C episode. The data from a single-centre cohort observational study on the impact of time to diagnosis, defined as the time from first symptom to diagnosis of MIS-C, were used for the purpose of this study, with an extended period of inclusion from May 2020 to April 2023...
January 11, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38202023/haemodynamic-parameters-underlying-the-relationship-between-sarcopenia-and-blood-pressure-recovery-on-standing
#37
JOURNAL ARTICLE
Eoin Duggan, Silvin P Knight, Feng Xue, Roman Romero-Ortuno
BACKGROUND: Sarcopenia, delayed blood pressure (BP) recovery following standing, and orthostatic hypotension (OH) pose significant clinical challenges associated with ageing. While prior studies have established a link between sarcopenia and impaired BP recovery and OH, the underlying haemodynamic mechanisms remain unclear. METHODS: We enrolled 107 participants aged 50 and above from a falls and syncope clinic, conducting an active stand test with continuous non-invasive haemodynamic measurements...
December 19, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/38197690/neonatal-death-audits-at-kgapane-hospital-limpopo-province
#38
JOURNAL ARTICLE
Gert J O Marincowitz, Clara Marincowitz
BACKGROUND:  Neonatal deaths (NNDs) are a global public health challenge, predominantly affecting low- and middle-income countries. The causes of most NNDs are preventable. Therefore, this study reviewed perinatal clinical audit data at Kgapane Hospital over a 4-year period with a special focus on the factors associated with NNDs. METHODS:  File audits were performed for all NNDs occurring at Kgapane Hospital and its catchment area from 2018 to 2021. The data from these audits were analysed to identify factors associated with NNDs...
December 22, 2023: South African Family Practice: Official Journal of the South African Academy of Family Practice/Primary Care
https://read.qxmd.com/read/38194958/effect-of-the%C3%A2-fran-crossfit-workout-on-oxygen-uptake-kinetics-energetics-and-postexercise-muscle-function-in-trained-crossfitters
#39
JOURNAL ARTICLE
Manoel Rios, Klaus Magno Becker, Ana Sofia Monteiro, Pedro Fonseca, David B Pyne, Victor Machado Reis, Daniel Moreira-Gonçalves, Ricardo J Fernandes
PURPOSE: Fran is one of the most popular CrossFit benchmark workouts used to control CrossFitters' improvements. Detailed physiological characterization of Fran is needed for a more specific evaluation of CrossFitters' training performance improvements. The aim of the study was to analyze the oxygen uptake (V˙O2) kinetics and characterize the energy system contributions and the degree of postexercise fatigue of the unbroken Fran. METHODS: Twenty trained CrossFitters performed Fran at maximal exertion...
January 9, 2024: International Journal of Sports Physiology and Performance
https://read.qxmd.com/read/38191072/congenital-heart-surgery-outcomes-in-patients-with-positive-respiratory-viral-swabs
#40
JOURNAL ARTICLE
Joy Lee, Arash Sabati, Lucia Mirea, Mohamad Alaeddine, Daniel A Velez
OBJECTIVE: To examine whether viral positive patients experienced worse outcomes and assess differences in surgical outcomes between viral positive patients with and without viral symptoms within 30 days of surgery. METHODS: This retrospective study reviewed charts of pediatric patients who underwent congenital heart surgery and routine viral testing at a single institution over a consecutive 3-year period (2017-2019). Patients with a history of heart transplants, pacemaker changes or implants, and mediastinal washouts were excluded from the study...
January 6, 2024: Journal of Thoracic and Cardiovascular Surgery
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