10 research outputs found

    Arterioportal Fistulas (APFs) in Pediatric Patients: Single Center Experience with Interventional Radiological versus Conservative Management and Clinical Outcomes

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    Arterioportal fistulas (APFs) are uncommon vascular abnormalities with a heterogeneous etiology. In pediatric orthotopic liver transplantation (OLT), APFs are frequently iatrogenic, following percutaneous liver interventions. The aim of this study was to report the 10-year experience of a tertiary referral center for pediatric OLT in the interventional radiological (IR) and conservative management of acquired APFs. A retrospective search was performed to retrieve pediatric patients (<18 years old) with a diagnosis of APF at color Doppler ultrasound (CDUS) or computed tomography angiography (CTA) from 2010 to 2020. Criteria for IR treatment were the presence of hemodynamic alterations at CDUS (resistive index <0.5; portal flow reversal) or clinical manifestations (bleeding; portal hypertension). Conservatively managed patients served as a control population. Clinical and imaging follow-up was analyzed. Twenty-three pediatric patients (median age, 4 years; interquartile range = 11 years; 15 males) with 24 APFs were retrieved. Twenty patients were OLT recipients with acquired APFs (16 iatrogenic). Twelve out of twenty-three patients were managed conservatively. The remaining 11 underwent angiography with confirmation of a shunt in 10, who underwent a total of 16 embolization procedures (14 endovascular; 2 transhepatic). Technical success was reached in 12/16 (75%) procedures. Clinical success was achieved in 8/11 (73%) patients; three clinical failures resulted in one death and two OLTs. After a median follow-up time of 42 months (range 1-107), successfully treated patients showed an improvement in hemodynamic parameters at CDUS. Conservatively managed patients showed a stable persistence of the shunts in six cases, spontaneous resolution in four, reduction in one and mild shunt increase in one. In pediatric patients undergoing liver interventions, APFs should be investigated. Although asymptomatic in most cases, IR treatment of APFs should be considered whenever hemodynamic changes are found at CDUS

    Facing up to limits: A lesson from the Charlie Gard case

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    the charlie gard case 1 generated immense media interest, but more importantly has bequeathed a valu- able lesson to doctors and nurses around the world. Medicine that does not recognize the existence of limits has little chance of being good medicine

    Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

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    Abstract Background In the last few years trio‐whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even in nonspecific clinical pictures and in atypical presentations of known diseases. Moreover WES allows the detection of variants in multiple genes causing different genetic conditions in a single patient, in about 5% of cases. The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic condition. Methods Trio‐WES was performed on a 4‐month‐old baby with a complex clinical presentation characterized by skeletal anomalies, congenital heart malformation, congenital hypothyroidism, generalized venous and arterial hypoplasia, and recurrent infections. Results WES detected two different homozygous variants, one in CEP57, the gene responsible for mosaic variegated aneuploidy syndrome 2, the other in DYNC2H1, the main gene associated with short‐rib thoracic dysplasia. Conclusion The contribution of these two different genetic causes in determining the phenotype of our patient is discussed, including some clinical signs not explained by the detected variants. The report then highlights the role of WES in providing complete and fast diagnosis in patients with complex presentations of rare genetic syndromes, with important implications in the assessment of recurrence risk

    Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

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    Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility

    Impact of SARS-CoV-2 Omicron and Delta variants in patients requiring intensive care unit (ICU) admission for COVID-19, Northern Italy, December 2021 to January 2022

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    This multicenter observational study included 171 COVID-19 adult patients hospitalized in the ICUs of nine hospitals in Lombardy (Northern Italy) from December, 1st 2021, to February, 9th 2022. During the study period, the Delta/Omicron variant ratio of cases decreased with a delay of two weeks in ICU patients compared to that in the community; a higher proportion of COVID-19 unvaccinated patients was infected by Delta than by Omicron whereas a higher rate of COVID-19 boosted patients was Omicron-infected. A higher number of comorbidities and a higher comorbidity score in ICU critically COVID-19 inpatients was positively associated with the Omicron infection as well in vaccinated individuals. Although people infected by Omicron have a lower risk of severe disease than those infected by Delta variant, the outcome, including the risk of ICU admission and the need for mechanical ventilation due to infection by Omicron versus Delta, remains uncertain. The continuous monitoring of the circulating SARS-CoV-2 variants remains a milestone to counteract this pandemic

    12th WINFOCUS world congress on ultrasound in emergency and critical care

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    12th WINFOCUS world congress on ultrasound in emergency and critical care.

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    10.1186/s13089-016-0046-8Crit Ultrasound J8Suppl 112-complete

    12th WINFOCUS world congress on ultrasound in emergency and critical care

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    Table of contents A1 Point-of-care ultrasound examination of cervical spine in emergency department Yahya Acar, Onur Tezel, Necati Salman A2 A new technique in verifying the placement of a nasogastric tube: obtaining the longitudinal view of nasogastric tube in addition to transverse view with ultrasound Yahya Acar, Necati Salman, Onur Tezel, Erdem Cevik A3 Pseudoaneurysm of the femoral artery after cannulation of a central venous line. Should we always use ultrasound in these procedures? Margarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-Bordomás A4 Ultrasound-guided supraclavicular subclavian vein catheterization. A novel approach in emergency department Margarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-Bordomás A5 Clinical ultrasound in a septic and jaundice patient in the emergency department Margarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-Bordomás A6 Characterization of the eyes in preoperative cataract Saudi patients by using medical diagnostic ultrasound Mustafa Z. Mahmoud, Abdelmoneim Sulieman A7 High-frequency ultrasound in determining the causes of acute shoulder joint pain Mustafa Z. Mahmoud A8 Teaching WINFOCUS Ultrasound Life Support Basic Level 1 for Providers in resource-limited countries Abbas Ali, Alrayah Mustafa, Ihab Abdelrahman, Mustafa Bahar, Osama Ali, H. Lester Kirchner, Gregor Prosen A9 Changes of arterial stiffness and endothelial function during uncomplicated pregnancy Ajda Anzic, Paul Leeson A10 Cardiovascular haemodynamic properties before, during and after pregnancy Ajda Anzic, Paul Leeson A11 An old man with generalized weakness Maryam Bahreini, Fatemeh Rasooli A12 Ultrasonography for non-specific presentations of abdominal pain Maryam Bahreini, Houman Hosseinnejad A13 Introduction of a new imaging guideline for suspected renal colic in the emergency department: effect on CT Urogram utilisation Gabriel Blecher, Robert Meek, Diana Egerton-Warburton A14 Transabdominal ultrasound screening for pancreatic cancer in Croatian military veterans: a retrospective analysis from the first Croatian veteran’s hospital Edina Ćatić Ćuti, Stanko Belina, Tihomir Vančina, Idriz Kovačević A15 The challenge of AAA: unusual case of obstructive jaundice Edina Ćatić Ćuti, Nadan Rustemović A16 Educational effectiveness of easy-made new simulator model for ultrasound-guided procedures in pediatric patients: vascular access and foreign body management Ikwan Chang, Jin Hee Lee, Young Ho Kwak, Do Kyun Kim A17 Detection of uterine rupture by point-of-care ultrasound at emergency department: a case report Chi-Yung Cheng, Hsiu-Yung Pan, Chia-Te Kung A18 Abdominal probe in the hands of interns as a relevant diagnostic tool in revealing the cause of heart failure Ela Ćurčić, Ena Pritišanac, Ivo Planinc, Marijana Grgić Medić, Radovan Radonić A19 Needs assessment of the potential utility of point-of-care ultrasound within the Zanzibar health system Abiola Fasina, Anthony J. Dean, Nova L. Panebianco, Patricia S. Henwood A20 Ultrasonographic diagnosis of tracheal compression Oliviero Fochi, Moreno Favarato, Ezio Bonanomi A21 The role of ultrasound in the detection of lung infiltrates in critically ill patients: a pilot study Marijana Grgić Medić, Ivan Tomić, Radovan Radonić A22 The SAFER Lasso; a novel approach using point-of-care ultrasound to evaluate patients with abdominal complaints in the emergency department Youngrock Ha, Hongchuen Toh A23 Awareness and use of clinician-performed ultrasound among clinical clerkship faculty Elizabeth Harmon, Wilma Chan, Cameron Baston, Gail Morrison, Frances Shofer, Nova Panebianco, Anthony J. Dean A24 Clinical outcomes in the use of lung ultrasound for the diagnosis of pediatric pneumonias Angela Hua, Sharon Kim, James Tsung A25 Effectiveness of ultrasound in hypotensive patients Isa Gunaydin, Zeynep Kekec, Mehmet Oguzhan Ay A26 Moderate-to-severe left ventricular ejection fraction related to short-term mortality of patients with post-cardiac arrest syndrome after out-of-hospital cardiac arrest Jinjoo Kim, Jinhyun Kim, Gyoosung Choi, Dowon Shim A27 Usefulness of abdominal ultrasound for acute pyelonephritis diagnosis after kidney transplantation Ji-Han Lee A28 Lung ultrasound for assessing fluid tolerance in severe preeclampsia Jana Ambrozic, Katja Prokselj, Miha Lucovnik A29 Optic nerve sheath ultrasound in severe preeclampsia Gabrijela Brzan Simenc, Jana Ambrozic, Miha Lucovnik A30 Focused echocardiography monitoring in the postoperative period for non-cardiac patients Asta Mačiulienė, Almantas Maleckas, Algimantas Kriščiukaitis, Vytautas Mačiulis, Andrius Macas A31 POCUS-guided paediatric upper limb fracture reduction: algorithm, tricks, and tips Sharad Mohite A32 Point-of-care lung ultrasound: a good diagnostic tool for pneumonia in a septic patient Zoltan Narancsik, Hugon Možina A33 A case of undergraduate POCUS (r)evolution Sara Nikolić, Jan Hansel, Rok Petrovčič, Una Mršić, Gregor Prosen A34 The Graz Summer School for ultrasound: from first contact to bedside application: three-and-a-half-day undergraduate ultrasound training: résumé after two years of continuous development Simon Orlob, Markus Lerchbaumer, Niklas Schönegger, Reinhard Kaufmann A35 Usefulness of point-of-care ultrasound in the emergency room in a patient with acute abdominal pain Alberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-Bordomás A36 Use of bedside ultrasound in a critically ill patient. A case report Alberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-Bordomás A37 Diagnostic yield of clinical echocardiography for the emergency physician Alberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-Bordomás A38 Focused cardiac ultrasound in early diagnosis of type A aortic dissection with atypical presentation Chun-I Pan, Hsiu-Yung Pan, Chien-Hung Wu A39 Detection of imperforated hymen by point-of-care ultrasound Hsiu-yung Pan, Chia-Te Kung A40 Developing a point-of-care ultrasound curriculum for pediatric nurse practitioners practicing in the pediatric emergency department Sarah Pasquale, Stephanie J. Doniger, Sharon Yellin, Gerardo Chiricolo A41 Use of transthoracic echocardiography in emergency setting: patient with mitral valve abscess Maja Potisek, Borut Drnovšek, Boštjan Leskovar A42 A young man with syncope Fatemeh Rasooli, Maryam Bahreini A43 Work-related repetitive use injuries in ultrasound fellows Kristine Robinson, Clara Kraft, Benjamin Moser, Stephen Davis, Shelley Layman, Yusef Sayeed, Joseph Minardi A44 Lung ultrasonography in the evaluation of pneumonia in children Irmina Sefic Pasic, Amra Dzananovic, Anes Pasic, Sandra Vegar Zubovic A45 Central venous catheter placement with the ultrasound aid: two years’ experience of the Interventional unit, Division of Intensive Care Medicine, KBC Zagreb Ana Godan Hauptman, Marijana Grgic Medic, Ivan Tomic, Ana Vujaklija Brajkovic, Jaksa Babel, Marina Peklic, Radovan Radonic A46 Duplicitas casui: two patients admitted due to acute liver failure Vedran Radonic, Ivan Tomic, Luka Bielen, Marijana Grgic Medic A47 A pilot survey on an understanding of Bedside Point-of-Care Ultrasound (POCUS) among medical doctors in internal medicine: exposure, perceptions, interest, and barriers to training Peh Wee Ming A48 Unusual case of defecation syncope Nur hafiza Yezid, Fatahul Laham Mohammed A49 A case report of massive pulmonary embolism; a multidisciplinary approach Zainal Abidin Huda, Wan Nasarudin Wan Ismail, W.Yus Haniff W.Isa, Hashairi Fauzi, Praveena Seeva, Mohd Zulfakar Mazla
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