keyword
https://read.qxmd.com/read/34293831/prenatal-case-of-simpson-golabi-behmel-syndrome-with-a-de-novo-370kb-sized-microdeletion-of-xq26-2-compassing-partial-gpc3-gene-and-review
#1
Jing Liu, Qin Liu, Shuting Yang, Na Ma, Jialun Pang, Ying Peng, Hui Xi, Zhengjun Jia, Yingchun Luo, Meiping Jiang, Yanling Teng, Wenxian Yu, Zhuo Li, Hua Wang
BACKGROUND: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally. METHODS: A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis...
July 22, 2021: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/34293648/maternal-urinary-cadmium-concentrations-in-early-pregnancy-in-relation-to-prenatal-and-postpartum-size-of-offspring
#2
Lili Liu, Lena Yao, Ming Dong, Ting Liu, Weina Lai, Xiao Yin, Shanyu Zhou, Lijuan Lv, Lifang Li, Jin Wang, Xiao Jiang, Bhatti Parveen, Jiabin Chen, Xin Sun
BACKGROUND: The impacts of environmental cadmium (Cd) exposure on birth size parameters including weight, length and head circumference (HC) have been reported in multiple studies. However, little remains known of the impacts of maternal Cd exposure during pregnancy on size during in utero development and during early childhood. The aim of this study was to comprehensively investigate impacts of maternal Cd exposure during pregnancy on the size of offspring in utero (from 24 weeks pregnancy) until six months of age...
July 16, 2021: Journal of Trace Elements in Medicine and Biology
https://read.qxmd.com/read/34293620/experimental-evaluation-of-the-near-field-and-far-field-heating-of-focused-ultrasound-using-the-thermal-dose-concept
#3
Antria Filippou, Theocharis Drakos, Marinos Giannakou, Nikolas Evripidou, Christakis Damianou
BACKGROUND: Conventional motion algorithms utilized during High Intensity Focused Ultrasound (HIFU) procedures usually sonicate successive tissue cells, thereby inducing excess deposition of thermal dose in the pre-focal region. Long delays (~60 s) are used to reduce the heating around the focal region. In the present study the experimental evaluation of six motion algorithms so as to examine the required delay and algorithm for which the pre-focal (near-field) and post-focal (far-field) heating can be reduced using thermal dose estimations is presented...
July 15, 2021: Ultrasonics
https://read.qxmd.com/read/34293592/pulsed-ultrasound-prevents-lipopolysaccharide-induced-muscle-atrophy-through-inhibiting-p38-mapk-phosphorylation-in-c2c12-myotubes
#4
Mizuki Ueno, Noriaki Maeshige, Yusuke Hirayama, Atomu Yamaguchi, Xiaoqi Ma, Mikiko Uemura, Hiroyo Kondo, Hidemi Fujino
OBJECTIVE: Inflammation contributes to skeletal muscle atrophy via protein degradation induced by p38 mitogen-activated protein kinase (MAPK) phosphorylation. Meanwhile, pulsed ultrasound irradiation provides the mechanical stimulation to the target tissue, and has been reported to show anti-inflammatory effects. This study investigated the preventive effects of pulsed ultrasound irradiation on muscle atrophy induced by lipopolysaccharide (LPS) in C2C12 myotubes. METHODS: C2C12 myotubes were used in this research...
July 19, 2021: Biochemical and Biophysical Research Communications
https://read.qxmd.com/read/34293317/neonatal-lung-ultrasound-and-surfactant-administration-a-pragmatic-multicenter-study
#5
Francesco Raimondi, Fiorella Migliaro, Iuri Corsini, Fabio Meneghin, Luca Pierri, Serena Salomè, Alessandro Perri, Salvatore Aversa, Stefano Nobile, Silvia Lama, Silvia Varano, Marilena Savoia, Sara Gatto, Valentina Leonardi, Letizia Capasso, Virgilio Paolo Carnielli, Fabio Mosca, Carlo Dani, Giovanni Vento, Pasquale Dolce, Gianluca Lista
BACKGROUND: Previous research shows that a lung ultrasound score (LUS) can anticipate CPAP failure in neonatal respiratory distress syndrome. RESEARCH QUESTION: Can LUS also predict the need for surfactant replacement? STUDY DESIGN AND METHODS: Multicenter, pragmatic study on preterm neonates who underwent lung ultrasound at birth and those given surfactant by masked physicians were also scanned within 24 hours from administration. Clinical data and respiratory support variables were recorded...
July 19, 2021: Chest
https://read.qxmd.com/read/34293031/incidence-associated-risk-factors-and-the-ideal-mode-of-delivery-following-preterm-labour-between-24-to-28-weeks-of-gestation-in-a-low-resource-setting
#6
Herbert Kayiga, Diane Achanda Genevive, Pauline Mary Amuge, Josaphat Byamugisha, Annettee Nakimuli, Andrew Jones
BACKGROUND: Preterm labour, between 24 to 28 weeks of gestation, remains prevalent in low resource settings. There is evidence of improved survival after 24 weeks though the ideal mode of delivery remains unclear. There are no clear management protocols to guide patient management. We sought to determine the incidence of preterm labour occurring between 24 to 28 weeks, its associated risk factors and the preferred mode of delivery in a low resource setting with the aim of streamlining patient care...
2021: PloS One
https://read.qxmd.com/read/34292788/lung-ultrasound-features-and-relationships-with-respiratory-mechanics-of-evolving-bpd-in-preterm-rabbits-and-human-neonates
#7
Barbara Loi, Costanza Casiraghi, Chiara Catozzi, Matteo Storti, Monica Lucattelli, Barbara Bartalesi, Nadya Yousef, Fabrizio Salomone, Daniele De Luca
Evolving broncho-pulmonary dysplasia (BPD) is a regionally heterogeneous disorder characterized by impaired alveolarization leading to lung aeration inhomogeneities. Hyperoxia-exposed preterm rabbits have been proposed to mimic evolving BPD and we aim to verify if this model has the same lung ultrasound and mechanical features of evolving BPD in human neonates. Twenty-five preterm rabbits and twenty-five neonates with evolving BPD were enrolled and subjected to semi-quantitative lung ultrasound and lung mechanics measurement...
July 22, 2021: Journal of Applied Physiology
https://read.qxmd.com/read/34292609/hepatitis-b-virus-hbv-genotype-a-significant-risk-factor-in-determining-which-patients-with-chronic-hbv-infection-should-undergo-surveillance-for-hepatocellular-carcinoma-the-hepatitis-b-alaska-hep-b-ak-study
#8
Brian J McMahon, Solu Nolen, Mary Snowball, Chriss Homan, Susan Negus, Elena Roik, Philip R Spradling, Dana Bruden
BACKGROUND AND AIMS: Information is limited regarding hepatitis B virus (HBV) genotype and the outcome of chronic HBV (CHB) infection. We examined HBV genotype on hepatocellular carcinoma (HCC) occurrence in Alaska Native (AN) persons with CHB where five HBV genotypes are found, A2, B6, C2, D and F1. APPROACH AND RESULTS: We calculated HCC incidence per 1000 person-years of follow-up to determine which groups by age, sex, and genotype met current American Association for the Study of Liver Diseases HCC surveillance criteria...
July 22, 2021: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://read.qxmd.com/read/34292498/computed-tomographic-sarcopenia-in-pancreatic-cancer-further-utilization-to-plan-patient-management
#9
Mustafa Jalal, Jennifer A Campbell, Jonathan Wadsley, Andrew D Hopper
PURPOSE: The presence of a sarcopenia adversely affects the prognosis of patients with pancreatic cancer. There is an emerging role for using computed tomography (CT) to calculate skeletal muscle index (SMI) and the presence of sarcopenia. The aim of this study was to assess if detecting 'computed tomographic sarcopenia' is feasible and can contribute to the management of patients with locally advanced pancreatic cancer (LAPC). METHODS: Patients diagnosed with LAPC referred for endoscopic ultrasound-guided biopsy (EUS-B) by our regional cancer network were identified...
July 22, 2021: Journal of Gastrointestinal Cancer
https://read.qxmd.com/read/34292454/lung-ultrasound-for-the-assessment-of-lung-recruitment-in-neonates-with-massive-pneumothorax-during-extracorporeal-membrane-oxygenation-a-case-report
#10
Xiaolong Zhang, Yiyong Fu, Guang Yue, Sheng Yang, Rong Ju
Bedside lung ultrasound may be an effective method for the assessment of lung recruitment in newborns with extracorporeal membrane oxygenation (ECMO). We report a case of a neonate who had severe hypoxemia with persistent pulmonary hypertension and massive pneumothorax due to meconium aspiration syndrome and was treated with ECMO. Positive pressure mechanical ventilation resulted in persistent massive air leakage from the disrupted pulmonary tissue. When ECMO was initiated, a "total lung rest" ventilation strategy was used to facilitate healing of the lung rupture and absorption of the pneumothorax...
July 22, 2021: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://read.qxmd.com/read/34292449/a-novel-homozygous-variant-in-jam3-gene-causing-hemorrhagic-destruction-of-the-brain-subependymal-calcification-and-congenital-cataracts-hdbscc-with-neonatal-onset
#11
Domenico Umberto De Rose, Francesca Gallini, Domenica Immacolata Battaglia, Eloisa Tiberi, Simona Gaudino, Ilaria Contaldo, Chiara Veredice, Domenico Marco Romeo, Luca Massimi, Alessia Asaro, Cristina Cereda, Giovanni Vento, Eugenio Maria Mercuri
BACKGROUND: JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC). CASE REPORT: Herein, we present a newborn male with a prenatal suspicion of bilateral cataracts but without fetal ultrasound findings of cortical malformations. He was postnatally diagnosed with a clinical picture of HDBSCC and Early-onset Developmental and Epileptic Encephalopathy (DEE), associated to a homozygous variant of JAM3 gene...
July 22, 2021: Neurological Sciences
https://read.qxmd.com/read/34292441/you-ll-see-it-when-you-know-it-granulomatous-mastitis
#12
Elana Smith, Dan A Moore, Sheryl G Jordan
Granulomatous mastitis (GM) is an under-recognized and under-diagnosed disease. Patients with GM often present to the emergency room with a painful breast mass, nipple retraction, and skin changes. This pictorial essay will review the clinical presentation and imaging appearance of GM, BI-RADS reporting parameters, differential diagnoses, and diagnostic challenges posed by this disease. Early and accurate diagnosis is essential, as misdiagnosis can result in repeated core biopsies, leading to fistulae and sinus tract formation...
July 22, 2021: Emergency Radiology
https://read.qxmd.com/read/34292435/adoption-of-a-new-automated-optical-coherence-tomography-software-to-obtain-a-lipid-plaque-spread-out-plot
#13
Francesco Isidori, Eugenio Lella, Valeria Marco, Mario Albertucci, Yukio Ozaki, Alessio La Manna, Flavio Giuseppe Biccirè, Enrico Romagnoli, Christos V Bourantas, Giulia Paoletti, Franco Fabbiocchi, Laura Gatto, Simone Budassi, Alessandro Sticchi, Francesco Burzotta, Nevio Taglieri, Giuseppe Calligaris, Eloisa Arbustini, Fernando Alfonso, Francesco Prati
PURPOSE: Near infrared spectroscopy-Intravascular ultrasound (NIRS-IVUS) provide a fully automated Lipid Core Burden Index (LCBI). Optical coherence tomography (OCT) is potentially capable of measuring lipid longitudinal extension in a dedicated two-dimensional LCBI spread-out plot. The present study has been designed to validate an automated approach to assess OCT images, able of providing a dedicated LCBI spread-out plot. METHODS: We compared results obtained with conventional (manual) OCT, with those obtained with a novel automated OCT algorithm and with NIRS-IVUS in consecutive 40 patients...
July 22, 2021: International Journal of Cardiovascular Imaging
https://read.qxmd.com/read/34292433/echocardiographic-assessment-of-the-right-ventricle-in-covid-19-a-systematic-review
#14
REVIEW
Simone Ghidini, Alessio Gasperetti, Dario Winterton, Marco Vicenzi, Mattia Busana, Giovanni Pedrazzini, Luigi Biasco, Gregorio Tersalvi
Cardiac involvement has been frequently reported in COVID-19 as responsible of increased morbidity and mortality. Given the importance of right heart function in acute and chronic respiratory diseases, its assessment in SARS-CoV-2 infected patients may add prognostic accuracy. Transthoracic echocardiography has been proposed to early predict myocardial injury and risk of death in hospitalized patients. This systematic review presents the up-to-date sum of literature regarding right ventricle ultrasound assessment...
July 22, 2021: International Journal of Cardiovascular Imaging
https://read.qxmd.com/read/34292427/longitudinal-assessment-of-quality-of-life-following-molecular-testing-for-indeterminate-thyroid-nodules
#15
Max A Schumm, Dalena T Nguyen, Jiyoon Kim, Chi-Hong Tseng, Amy Y Chow, Na Shen, Masha J Livhits
BACKGROUND: Molecular testing can refine the risk of malignancy in cytologically indeterminate thyroid nodules and can reduce the need for diagnostic thyroidectomy. However, quality of life (QOL) in patients mananged with molecular testing is not well studied. OBJECTIVE: We aimed to assess the QOL of patients undergoing surveillance after a benign molecular test result, or thyroidectomy after a suspicious molecular test result. METHODS: This prospective longitudinal follow-up of the Effectiveness of Molecular Testing Techniques for Diagnosis of Indeterminate Thyroid Nodules randomized trial utilized the Thyroid-Related Patient-Reported Outcome, 39-item version (ThyPro-39) to assess the QOL of patients with indeterminate cytology on thyroid fine needle aspiration (FNA) biopsy...
July 22, 2021: Annals of Surgical Oncology
https://read.qxmd.com/read/34292422/magnetic-resonance-imaging-for-deep-infiltrating-endometriosis-current-concepts-imaging-technique-and-key-findings
#16
REVIEW
Filomenamila Lorusso, Marco Scioscia, Dino Rubini, Amato Antonio Stabile Ianora, Doriana Scardigno, Carla Leuci, Michele De Ceglie, Angela Sardaro, Nicola Lucarelli, Arnaldo Scardapane
Endometriosis is an estrogen-dependent chronic disease affecting about 10% of reproductive-age women with symptoms like pelvic pain and infertility. Pathologically, it is defined by the presence of endometrial tissue outside the uterine cavity responsible for a chronic inflammatory process. For decades the diagnosis of endometriosis was based on surgical exploration and biopsy of pelvic lesions. However, laparoscopy is not a risk-free procedure with possible false negative diagnosis due to an underestimate of retroperitoneal structures such as ureters and nerves...
July 22, 2021: Insights Into Imaging
https://read.qxmd.com/read/34292413/perinatal-post-mortem-magnetic-resonance-imaging-mri-of-the-central-nervous-system-cns-a-pictorial-review
#17
REVIEW
Carlos Pérez-Serrano, Álvaro Bartolomé, Núria Bargalló, Carmen Sebastià, Alfons Nadal, Olga Gómez, Laura Oleaga
Central nervous system (CNS) abnormalities cause approximately 32-37.7% of terminations of pregnancy (TOP). Autopsy is currently the gold standard for assessing dead foetuses and stillborn. However, it has limitations and is sometimes subject to parental rejection. Recent studies have described post-mortem foetal magnetic resonance imaging (MRI) as an alternative and even complementary to autopsy for CNS assessment. Radiologists now play a key role in the evaluation of perinatal deaths. Assessment of foetal CNS abnormalities is difficult, and interpretation of foetal studies requires familiarisation with normal and abnormal findings in post-mortem MRI studies as well as the strengths and limitations of the imaging studies...
July 22, 2021: Insights Into Imaging
https://read.qxmd.com/read/34292387/-preoperative-diagnostics-of-pancreatic-neoplasms
#18
REVIEW
Lena Häberle, Martin Schramm, Irene Esposito
While patients with clinico-radiologically diagnosed resectable pancreatic cancer usually undergo surgery without preoperative cytological or histopathological diagnostics, patients with inoperable tumors or ambiguous findings in imaging often undergo EUS-FNA or EUS-FNB (endoscopic ultrasound-guided fine-needle aspiration or endoscopic ultrasound-guided fine-needle biopsy). In many cases, this concerns pancreatic cystic lesions, which can range from benign inflammatory pseudocysts to invasive pancreatic cancer emerging from intraductal papillary mucinous neoplasms (IPMNs) or mucinous cystic neoplasms (MCNs)...
July 22, 2021: Der Pathologe
https://read.qxmd.com/read/34292383/ultrasound-in-legal-medicine-a-missed-opportunity-or-simply-too-late-a-narrative-review-of-ultrasonic-applications-in-forensic-contexts
#19
REVIEW
Dustin Möbius, Antonia Fitzek, Niels Hammer, Axel Heinemann, Alexandra Ron, Julia Schädler, Johann Zwirner, Benjamin Ondruschka
OBJECTIVES: Conventional autopsies remain the gold standard of postmortem healthcare quality assurance and help gathering extended knowledge on diseases. In answer to constantly declining autopsy rates non- or minimally invasive autopsy methods were introduced. Ultrasound is a well-established tool for imaging commonly used in clinical practice. This narrative review aims to summarize the current literature regarding the feasibility and validity of ultrasound in a forensic context. MATERIAL AND METHODS: A PubMed database search was carried out...
July 22, 2021: International Journal of Legal Medicine
https://read.qxmd.com/read/34292357/three-near-fatal-or-fatal-complications-during-implantation-of-tunnelled-hemodialysis-catheters-learning-from-experts
#20
Anne-Catherine Schuepfer, Guido Schuepfer, Jacqueline Mauch
Tunnelled hemodialysis catheters are well accepted and widely used devices to provide vascular access for dialysis in patients when an arteriovenous shunt is not feasible or dysfunctional. In the literature complications after implantation are well documented but fatal or near-fatal events during implantation are seldom reported. In this article 3 such cases from a single tertiary center over a period of more than 10 years are presented and discussed. The (near) fatal complications occurred despite experienced surgeons and the use of ultrasound and fluoroscopy during implantation...
July 22, 2021: Der Anaesthesist
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